#CHROM	POS	REF	ALT	NEAR_SNV	GENE	VARIATION	CODING	EFFECT
1	939398	GCCTCCCCAGCCACGGTGAGGACCCACCCTGGCATGATCCCCCTCATCA	G	C939437T	SAMD11	NM_152486.3(SAMD11):c.683_706+24del	coding	Benign
1	1014316	C	CG	C1014320G	ISG15	NM_005101.4(ISG15):c.339dup:p.Leu114fs	coding	Pathogenic
1	1040819	G	GC	T1040821C	AGRN	NM_198576.4(AGRN):c.667dup:p.Leu223fs	coding	Pathogenic
1	1041338	TCCTGCGCCGCG	T	G1041347C	AGRN	NM_198576.4(AGRN):c.902_912del:p.Arg301fs	coding	Pathogenic
1	1041354	CGCCCGCCAGGAGAATGTCTTCAAGAAGTTCGACG	C	G1041359T	AGRN	NM_198576.4(AGRN):c.914_947del:p.Arg305fs	coding	Pathogenic
1	1041559	G	GGCCC	A1041565C	AGRN	NM_198576.4(AGRN):c.1036_1039dup:p.Glu347fs	coding	Pathogenic
1	1041776	CCGGCCAGTGCCAGGGTCGAGGTGGGCGGCTCCCCCGGGGGAGGGCTG	C	C1041811T	AGRN	NM_198576.4(AGRN):c.1177+109_1178-99del	noncoding	Benign
1	1042136	T	TC	A1042141C	AGRN	NM_198576.4(AGRN):c.1362dup:p.Ser455fs	coding	Pathogenic
1	1043223	CCT	C	C1043224G	AGRN	NM_198576.4(AGRN):c.1385-15_1385-14del	noncoding	Benign
1	1046480	G	GC	G1046489C	AGRN	NM_198576.4(AGRN):c.3003dup:p.Gly1002fs	coding	Pathogenic
1	1048791	CAG	C	A1048792G	AGRN	NM_198576.4(AGRN):c.4106-75_4106-74del	noncoding	Benign
1	1049050	TGCAGCTCAGGTGGGCGGGGAGGGGACGGGGCCGGGGCAGCTCAGGTGGGCGGGGAGGGGACGGGCGGGGGAGGGGGGGCCGGG	T	C1049065T	AGRN	NM_198576.4(AGRN):c.4298+6_4298+88del	coding	Benign
1	1232289	T	TGCGGCGGGCGTGGCG	G1232315T	B3GALT6	NM_080605.4(B3GALT6):c.22_36dup:p.Trp8_Ala12dup	coding	Benign/Likely_benign
1	1232594	CGGCGCGCCCTGGAGCGGGAGCA	C	C1232601G	B3GALT6	NM_080605.4(B3GALT6):c.323_344del:p.Ala108fs	coding	Pathogenic
1	1232630	GA	G	A1232631C	B3GALT6	NM_080605.4(B3GALT6):c.353del:p.Asp118fs	coding	Pathogenic
1	1232684	GTGCTGGCCA	G	A1232693T	B3GALT6	NM_080605.4(B3GALT6):c.415_423del:p.Met139_Ala141del	coding	Pathogenic
1	1232859	CG	C	G1232866C	B3GALT6	NM_080605.4(B3GALT6):c.588del:p.Arg197fs	coding	Pathogenic
1	1338000	CT	C	T1338001G	DVL1	NM_001330311.2(DVL1):c.1690del:p.Ser564fs	coding	Pathogenic
1	1338033	TAGGCAGG	C	T1338033C	DVL1	NM_001330311.2(DVL1):c.1651_1658delinsG:p.Pro551fs	coding	Pathogenic
1	1338045	AA	G	A1338045G	DVL1	NM_001330311.2(DVL1):c.1645_1646delinsC:p.Phe549fs	coding	Pathogenic
1	1338053	TG	T	G1338058T	DVL1	NM_001330311.2(DVL1):c.1637del:p.Pro546fs	coding	Pathogenic
1	1338059	TC	T	C1338062G	DVL1	NM_001330311.2(DVL1):c.1631del:p.Gly544fs	coding	Pathogenic
1	1338086	AC	A	C1338089A	DVL1	NM_001330311.2(DVL1):c.1604del:p.Gly535fs	coding	Pathogenic
1	1338092	AG	A	G1338094C	DVL1	NM_001330311.2(DVL1):c.1598del:p.Pro533fs	coding	Pathogenic
1	1338096	CA	C	A1338097G	DVL1	NM_001330311.2(DVL1):c.1594del:p.Trp532fs	coding	Pathogenic
1	1338098	GGGGGCAGCCGGGT	G	C1338107G	DVL1	NM_001330311.2(DVL1):c.1580_1592del:p.His527fs	coding	Pathogenic
1	1338107	CG	C	G1338110T	DVL1	NM_001330311.2(DVL1):c.1583del:p.Pro528fs	coding	Pathogenic
1	1338111	TG	T	G1338115C	DVL1	NM_001330311.2(DVL1):c.1579del:p.His527fs	coding	Pathogenic
1	1338143	AG	A	G1338144T	DVL1	NM_001330311.2(DVL1):c.1547del:p.Thr516fs	coding	Pathogenic
1	1341659	CCA	C	A1341665C	DVL1	NM_001330311.2(DVL1):c.605+2TG[2]	noncoding	Benign/Likely_benign
1	1615464	C	CG	C1615470G	MIB2	NM_001170688.1(MIB2):c.10dup:p.Ala4fs	coding	Benign
1	1787340	GATC	G	A1787341T	GNB1	NM_002074.5(GNB1):c.1011_1013del:p.Lys337_Ile338delinsAsn	coding	Pathogenic
1	2229045	GTCCGACCGC	G	G2229049A	SKI	NM_003036.4(SKI):c.283_291del:p.Asp95_Ser97del	coding	Pathogenic
1	2229045	GTCCGACCGCTCC	G	T2229046A	SKI	NM_003036.4(SKI):c.280_291del:p.Ser94_Ser97del	coding	Pathogenic
1	2229401	AGCTCAGCGAGCGCAGCGTCCGCGTGTACCACGAGTGCTTCGGCAAGTGTAAGGGGCTGCTGGTGCCCGAGCTCTACAGCAGCCCGAGCGCCGCCTGCATCCAGTGCCTGGACTGCCGCCTCATGTACCCGCCGCACAAGTTCGTGGTGCACTCGCACAAGGCCCTGGAGAACCGGACCTGCCACTGGGGCTTCGACTCGGCCAACTGGCGGGCCTACATCCTGCTGAGCCAGGATTACACGGGCAAGGAGGAGCAGGC	A	T2229404G	SKI	NM_003036.4(SKI):c.638_895del:p.Leu213_Ala298del	coding	Pathogenic
1	2406528	G	GC	G2406529C	PEX10	NM_002617.3(PEX10):c.867_868insG:p.His290fs	coding	Pathogenic
1	2406580	CAG	C	A2406581G	PEX10	NM_153818.1(PEX10):c.874_875del:p.Leu292fs	coding	Pathogenic
1	2406734	GC	G	C2406736G	PEX10	NM_002617.3(PEX10):c.761del:p.Gly254fs	coding	Pathogenic/Likely_pathogenic
1	2406791	C	CT	G2406793T	PEX10	NM_153818.1(PEX10):c.764dup:p.Leu256fs	coding	Pathogenic
1	2406792	TGCAGCCCCATGG	T	G2406793A	PEX10	NM_153818.1(PEX10):c.752_763del:p.Ser251_Gln255delinsTer	coding	Pathogenic/Likely_pathogenic
1	2406831	A	AC	A2406837C	PEX10	NM_002617.4(PEX10):c.664dup:p.Val222fs	coding	Pathogenic
1	2406931	TGA	T	A2406933G	PEX10	NM_153818.1(PEX10):c.623_624del:p.Leu208fs	coding	Pathogenic/Likely_pathogenic
1	2408713	CA	C	A2408714G	PEX10	NM_002617.3(PEX10):c.338del:p.Leu113fs	coding	Pathogenic/Likely_pathogenic
1	2408714	AG	A	G2408719A	PEX10	NM_002617.3(PEX10):c.337del:p.Leu113fs	coding	Pathogenic
1	2408756	TG	T	G2408757C	PEX10	NM_002617.3(PEX10):c.295del:p.His99fs	coding	Pathogenic
1	2408760	G	GCGTCACCAGCA	T2408761C	PEX10	NM_002617.4(PEX10):c.291_292insTGCTGGTGACG:p.Leu98delinsCysTrpTer	coding	Pathogenic
1	2412474	T	TC	G2412477C	PEX10	NM_002617.4(PEX10):c.28dup:p.Glu10fs	coding	Pathogenic
1	2412498	GC	G	C2412500A	PEX10	NM_002617.3(PEX10):c.4del:p.Ala2fs	coding	Pathogenic
1	2498647	G	GGTGGGGGCC	A2498657G	PLCH2	NM_014638.4(PLCH2):c.2349+1_2349+9dup	coding	Benign
1	2504391	TTCC	T	T2504401A	PLCH2	NM_014638.4(PLCH2):c.3430_3432TCC[3]:p.Ser1148del	coding	Benign
1	3402939	TG	T	G3402941C	PRDM16	NM_022114.4(PRDM16):c.827del:p.Gly276fs	coding	Pathogenic
1	3403006	GCCCTCCTCTGAGTCTTCCTCCCCTTCCCGTA	G	A3403037G	PRDM16	NM_022114.4(PRDM16):c.884+39_884+69del	noncoding	Benign
1	3411765	A	AC	G3411771C	PRDM16	NM_022114.4(PRDM16):c.1573dup:p.Arg525fs	coding	Pathogenic
1	3430950	G	GGAC	T3430959C	PRDM16	NM_022114.4(PRDM16):c.3366_3368CGA[3]:p.Asp1125dup	coding	Benign/Likely_benign
1	3433530	CTGGGATGG	C	T3433531C	PRDM16	NM_022114.4(PRDM16):c.3697-146_3697-139del	noncoding	Benign
1	3433539	CCCGCCCTGCCCACGCGCTCACCTGCCTGTCT	C	C3433540G	PRDM16	NM_022114.4(PRDM16):c.3697-137_3697-107del	noncoding	Benign
1	3835081	G	GA	G3835082A	CEP104	NM_014704.4(CEP104):c.1328_1329insT:p.Tyr444fs	coding	Pathogenic
1	3837319	AGGGAGTAACG	A	G3837322T	CEP104	NM_014704.4(CEP104):c.1082_1091del:p.Pro361fs	coding	Pathogenic
1	3852318	AG	A	G3852319T	CEP104	NM_014704.4(CEP104):c.89del:p.Thr30fs	coding	Pathogenic
1	5866398	TG	T	G5866399A	NPHP4	NM_015102.5(NPHP4):c.3618del:p.Asp1208fs	coding	Pathogenic
1	5867799	TGATA	T	T5867802A	NPHP4	NM_015102.5(NPHP4):c.3409_3412del:p.Tyr1137fs	coding	Pathogenic
1	5873294	CA	C	A5873295C	NPHP4	NM_015102.5(NPHP4):c.3272del:p.Val1091fs	coding	Pathogenic
1	5874973	T	TGGAGC	T5874980G	NPHP4	NM_015102.5(NPHP4):c.2940_2944dup:p.His982fs	coding	Pathogenic
1	5905354	CTGAG	C	T5905355G	NPHP4	NM_015102.5(NPHP4):c.1889_1892del:p.Pro630fs	coding	Pathogenic
1	5907139	GCC	G	C5907140A	NPHP4	NM_015102.5(NPHP4):c.1585_1586del:p.Gly529fs	coding	Pathogenic
1	5948220	TCCAGGGCA	T	G5948224C	NPHP4	NM_015102.5(NPHP4):c.834_841del:p.Ala279fs	coding	Pathogenic
1	5952759	A	AG	T5952764G	NPHP4	NM_015102.5(NPHP4):c.750dup:p.Ser251fs	coding	Pathogenic
1	5978356	CATCA	C	T5978358A	NPHP4	NM_015102.5(NPHP4):c.189_192del:p.Phe63fs	coding	Pathogenic/Likely_pathogenic
1	5978416	AG	A	G5978418A	NPHP4	NM_015102.5(NPHP4):c.136-4del	noncoding	Benign/Likely_benign
1	6082281	GTCTTT	G	T6082284A	KCNAB2	NM_001199861.2(KCNAB2):c.281+10_281+14del	noncoding	Benign
1	6124668	T	TGG	A6124680G	CHD5	NM_015557.3(CHD5):c.4395-18_4395-17dup	noncoding	Benign
1	6448931	C	CG	C6448933G	ESPN	NM_031475.3(ESPN):c.1756dup:p.Ala586fs	coding	Pathogenic
1	6448961	GCCACCGCCGCCC	G	C6448973G	ESPN	NM_031475.3(ESPN):c.1797_1808del:p.Pro602_Pro605del	coding	Benign/Likely_benign
1	6451674	AAGAG	A	A6451675C	ESPN	NM_031475.3(ESPN):c.1988_1991del:p.Lys663fs	coding	Pathogenic
1	6457223	TGGAGGCGGGACCTCCTGC	T	G6457227A	ESPN	NM_031475.3(ESPN):c.2369_2386del:p.Arg790_Arg795del	coding	Pathogenic
1	6460047	ACAGT	A	T6460051A	ESPN	NM_031475.3(ESPN):c.2470_2473del:p.Ser824fs	coding	Pathogenic
1	6460076	AC	A	C6460077G	ESPN	NM_031475.3(ESPN):c.2496del:p.Gly831_Tyr832insTer	coding	Pathogenic
1	6460118	TGAA	T	A6460123G	ESPN	NM_031475.3(ESPN):c.2539_2541AAG[1]:p.Lys848del	coding	Pathogenic
1	6466142	CCGTGCTCT	C	G6466144T	PLEKHG5	NM_003790.2(TNFRSF25):c.-43_-36del	noncoding	Benign
1	6466180	GCGCC	G	C6466184A	PLEKHG5	NM_003790.2(TNFRSF25):c.-77_-74del	noncoding	Benign
1	6468468	TGA	T	A6468474G	PLEKHG5	NM_020631.5(PLEKHG5):c.2362_2363TC[2]:p.Leu789fs	coding	Pathogenic
1	6469122	TTCC	T	C6469146T	PLEKHG5	NM_020631.5(PLEKHG5):c.2145_2147GGA[7]:p.Glu723del	coding	Benign/Likely_benign
1	6469122	TTCCTCC	T	C6469143T	PLEKHG5	NM_020631.5(PLEKHG5):c.2145_2147GGA[6]:p.Glu722_Glu723del	coding	Benign
1	6470247	TC	T	C6470251T	PLEKHG5	NM_020631.6(PLEKHG5):c.1788del:p.Lys597fs	coding	Pathogenic
1	6470823	TGG	T	G6470826T	PLEKHG5	NM_020631.6(PLEKHG5):c.1452_1453del:p.His485fs	coding	Pathogenic
1	6470837	CAT	C	A6470838G	PLEKHG5	NM_020631.6(PLEKHG5):c.1438_1439del:p.Met480fs	coding	Pathogenic
1	6470905	C	CG	C6470909G	PLEKHG5	NM_020631.5(PLEKHG5):c.1393-24dup	noncoding	Benign
1	6471622	G	GGC	T6471627G	PLEKHG5	NM_020631.6(PLEKHG5):c.1145_1146dup:p.Leu383fs	coding	Pathogenic
1	6472604	AC	A	C6472605T	PLEKHG5	NM_020631.6(PLEKHG5):c.1002del:p.Gln334fs	coding	Pathogenic
1	6473051	C	CGTCTTCA	T6473059G	PLEKHG5	NM_020631.5(PLEKHG5):c.912_918dup:p.Glu307Ter	coding	Pathogenic
1	6473265	TGG	T	G6473266T	PLEKHG5	NM_020631.6(PLEKHG5):c.779_780del:p.Thr260fs	coding	Pathogenic
1	6474060	GGGCGGGGGGCCCGGTCCCAGCTGGCCGCAGAATCGGCAAACTCAGGGACTTGGAGTCCTTCATGCCCTGCTCCACCTTGCCCTCATCTCCA	G	G6474064T	PLEKHG5	NM_020631.5(PLEKHG5):c.453_543del:p.Gly152fs	coding	Pathogenic
1	6475036	TC	AA	T6475036A	PLEKHG5	NM_020631.5(PLEKHG5):c.302+10_302+11delinsTT	noncoding	Benign
1	6476021	CG	C	G6476024C	PLEKHG5	NM_001265593.1(PLEKHG5):c.265del:p.Arg89fs	coding	Pathogenic
1	6477533	TG	T	G6477538A	PLEKHG5	NM_020631.5(PLEKHG5):c.38del:p.Pro13fs	coding	Pathogenic
1	6477752	C	CTGCTCCGACCTGGGCCAGCTCTCCCTAATGGA	C6477754G	PLEKHG5	NM_020631.5(PLEKHG5):c.-87-95_-87-94insATCCATTAGGGAGAGCTGGCCCAGGTCGGAGC	noncoding	Benign
1	6640071	C	CA	G6640090A	DNAJC11	NM_018198.4(DNAJC11):c.1098-32dup	noncoding	Benign
1	7091314	CTTAT	C	T7091318A	CAMTA1	NM_015215.4(CAMTA1):c.249_252del:p.Ala82_Tyr83insTer	coding	Pathogenic
1	7249607	TC	T	C7249608A	CAMTA1	NM_015215.4(CAMTA1):c.420del:p.Lys141fs	coding	Pathogenic
1	7621940	CGTCTTCTCTGGGTGACCTCGTGTGACCTTGCAATCCCGTCAAGTCTTTGGTTCTGCAGAAACAACTGTCAGATCGGGAGTTAGTCACCTCCAAAGACAGAAACCAAAAACCAAAACAGTGACCTTGTTCTTTCTGTTCATGACCCTGGAGGTATGGGGGGAGGAGGAGGAAGCGGAGATTGGTTTTGCTCGTTAACTCATTATCAGTGACTGAGCGGCTACTCATGGCTGGGAACTTGTTGGGTGCCCTCCATTACACTTCCCTTAATCCTCTCAATGGCTTTTGATATCCTCAGGTAGATGGGAGGATCCCCATTTTACCTGGGAGGGATACAAGGCCAAGAGGGGTTAAGTAACTTGCCCAAGATCACACAGCGTTTGAAGTGGCCAAGGTGAAATTTGATCTAACTTCCACTTGGATGTGTGATTCCACTCCACATCCAAGTTCTTTCCATCATCTGGCTGCAGGCAAGATAACAGATTGGTGTATTCTTTCTATCTTATTTGAATTCCAAAGTTAGTATCCGCTATTGAAAACAGCTGACTTCATTATAACCCATCATTGACTCCTTTCTTTAACAAATAACCAGCAAAACAGAGCGTTCTTTCGGAGTAAGCCTTCCACCACCTGAACTTTGACAACTTTCTCCCTAATGGGTTTCTCCCTGTGAGTATTTGATCTTGGCCACCAGCATGAGCCTATCCTGGTGATCTCAAAATGCTGAGGTTTTTCTTCTGTTAAGAGATTGAATCTTCTGTTCCATGTGGAGGCTTATTCAACATTAAAGCGTTCCTGAACCATTTCATTTATTCAACAAATATTTTCCAAGCCCAGCTCTGGGCCAGATGCCAGGCTCAAGGCTTAGCAAGCCAGACAGATGTGGAGCCGCCATCATGGAACTCGGCCCTCACAGGCCATTGTCCTTGGCTTTCCAGACTGAACCTCTGTGCTTTCTTGTTTCACGGCTGTTTTCCTGAATGCTCCCTGTGAGCCCGAGTCTGTCCTGAGGTCTTCGTCCCTATTCCCTGTGCCTGAATCCTTTCCTCTCCCAGAGCTCCCCACAGCTGGCTTCTTTTTATCATCTCAGATACAGCTGAAGGTTCCATCCTCAGAGGCCTTCTCAAGCTCGCTGGCTAAATTCTCCACCCACCCCCATTTTTTATGCTCATACCACTTCATGCCATCCAGAACCACCTTATTCTTTATTCCAATGTTTATAGCTCGTCTCTTCCATGCTCTTTGAGGGCAGAGTCTTAGACTTGGTCACAGTAGACCCCAAATGTAGGCCAGTCCCTGGTATCTTGTGGTTCTTGAGAGCTAATCTGTTGAATGAATGAATGAATGAATGAATGAGGGAATTAATGAACACCCTGCAAAGCAAGTGCCACAGTTACCCCTACTCTATAGAAGAGGCAGCTGTTCCTCTAAAAGGCTGAGAATCCCACCTCAGAGCTACCTGCAGGAGAGTGGGTGAGCTGGGACCCCAGTCATTTCAGGTTAACTGAAGGGAAAGCCTGACTTCCCATCAGCTCCACACACTGAGTCCTTTCTCCTAGAAATGAAGGAAACACAAAGAAGTCACTAAGAAGGCACCTCGCCCTCAAGCATCTGAAACCCTCAGTTGGAAATTTGACTGCAACCTCTGCCTCCTGGGTTCAAGGGATTCTCCTGCCTCAGCCCCCCAAGTAGCTGGGACTACAGGCATGCGCCACCACACCCAGCTAATTCTGTATTTTCAGGAGAGATGGGATTTCACCATGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAGGTGTTCCGCCCGCCTCGGCCTCCCGAGGTGCTGGGATTACAGAAGCTCTTTTTCAACATTGCCTTTTAGATCCCCTTTCCCATCAGCTTCCTCCAAAGGAGCTGCTGGCTTGATTTACCTGCAGCCACCGCAATTAATTGCTGTCCCCTGGTAGCTAACATCTCTTAACAGCTCCATAGCAACAGTGGTTTCCAAATGCCAGAAAGTGTTTTTTCCAAGGGGACTCTATCCTCGACGCAAAATAGAACATTTTGAGTGAAATTTAAACACAGTTTTTGAACGGTGCTGTTCTGATTTCTTCACACTTCACAAATGCTTTCTTTGCAAACATGGGTGTCCCAGTTACCCTGGGCTGGTGCCAAGGCCCTCAGCCCAGCTTCTGTTTTCTCAGCTTCAAGGCAGCCGTGGTAAGACCTAAAAACAAACAGGGAGCGAGTGCTGTGGGTCTCCCCGCTAAGGGGTTGCCTTGCGCCTGTGCAGAGATGAGGACCACAGTTTGTCTCCCACACCAGCTGTGATCAATTGGTGATGACAACGCAGAACCCTGCCTATGCGATTTCTGGGACCCCATCTGAGCTTAGTGGGAAAGAGTGCCATCCGCCATGGTTCCAGTGCAGAATTCCAAGGGCCAAGATGGGGAGTAGGGATTTGTGTATGAGTGGTTGGTTGGAACAAATCATCCTGGTATACCACTGCTCCCACAGGTGGAAACAGAGAAACTGGGTTAAAATGAAGACTCCAGTAAATTCGCATGCAGAAGTACCCAGAAAGGCCCTTGCCATGTCCTTCACTCTGCCTTGGTGAAGGTGGAAGAGATGAAGGGAGAGGGTGATGGGTGGGTGGTGGGTGTGCTGGCCACCGACTGGCACAGCCCCCAGCACAGGGGCTGTCTCTAGTGACCGATCCAGGATGAGTGTCCCCATTCAGATGCAGTCAACCCACCACTGATTCAACCAACACTTGCTGACTGCCTATCAGGGAATACATTTCCTTCTGATGCACACTCTGCTCTCAGGAAGTCTGGGGTCCAGAGAGGGAATGGAGGTGCCAGCCAGCCTGAAGATCAGTGGAAAGAGTGAGGCTGGCTGATGCTGCAGGAGAGACACAGAGGACTGTCAGGGGAGTCCCAAAGGGAATGAAATTATTTTGGTTGGAAGGATAAAGGGAGGCTGGAAGGACAGTGTGACGTTGGATCTGGGTCTTGACA	C	G7621941A	CAMTA1	NM_015215.4(CAMTA1):c.511-18459_511-15460del	noncoding	Pathogenic
1	7640514	TG	T	G7640516A	CAMTA1	NM_015215.4(CAMTA1):c.627del:p.Lys208_Trp209insTer	coding	Pathogenic
1	7663346	TC	T	C7663348G	CAMTA1	NM_015215.4(CAMTA1):c.806-5del	noncoding	Benign
1	7663428	CA	C	A7663429G	CAMTA1	NM_015215.4(CAMTA1):c.882del:p.Tyr297fs	coding	Pathogenic
1	7663429	A	ACG	G7663430C	CAMTA1	NM_015215.4(CAMTA1):c.882_883insCG:p.Gly295fs	coding	Pathogenic
1	7663677	T	TG	T7663680G	CAMTA1	NM_015215.4(CAMTA1):c.1132dup:p.Val378fs	coding	Pathogenic
1	7663998	A	AC	G7664003C	CAMTA1	NM_015215.4(CAMTA1):c.1455dup:p.Asp486fs	coding	Pathogenic
1	7664460	CTG	C	T7664461G	CAMTA1	NM_015215.4(CAMTA1):c.1914_1915del:p.Gly640fs	coding	Pathogenic
1	7664990	AC	A	C7664993A	CAMTA1	NM_015215.4(CAMTA1):c.2446del:p.Gln816fs	coding	Pathogenic
1	7737492	ATGGCCCAG	A	C7737497A	CAMTA1	NM_015215.4(CAMTA1):c.3585_3592del:p.Trp1197fs	coding	Pathogenic
1	7738349	CTT	GTGCTGC	C7738349G	CAMTA1	NM_015215.4(CAMTA1):c.4049_4051delinsGTGCTGC:p.Pro1350fs	coding	Pathogenic
1	7738398	CAG	C	A7738403G	CAMTA1	NM_015215.4(CAMTA1):c.4099_4100AG[2]:p.Glu1368fs	coding	Pathogenic
1	7744861	CA	C	A7744862T	CAMTA1	NM_015215.4(CAMTA1):c.4210del:p.Ile1404fs	coding	Pathogenic
1	7965336	G	GT	G7965339T	PARK7	NM_007262.5(PARK7):c.105dup:p.Ala36fs	coding	Pathogenic
1	7965421	AAG	A	A7965424G	PARK7	NM_007262.5(PARK7):c.189_190AG[1]:p.Glu64fs	coding	Pathogenic
1	8358216	T	TGGTGGA	G8358234A	RERE	NM_001042681.2(RERE):c.4307_4312TCCACC[3]:p.1436_1437LH[3]	coding	Pathogenic
1	8359794	T	TCGCTCC	T8359813C	RERE	NM_001042681.2(RERE):c.3570_3575GGAGCG[4]:p.1192_1193RE[6]	coding	Benign
1	8359808	GCTCCTT	G	T8359825C	RERE	NM_001042681.2(RERE):c.3556_3561AAGGAG[2]:p.1186_1187KE[2]	coding	Benign
1	8359808	G	GCTCCTT	C8359831T	RERE	NM_001042681.2(RERE):c.3556_3561AAGGAG[4]:p.1186_1187KE[4]	coding	Benign
1	8361046	A	AGGGATGCGGCGG	T8361068C	RERE	NM_001042681.2(RERE):c.2449_2460dup:p.Pro817_Pro820dup	coding	Benign
1	8361236	C	CCCTGGAGGAGCTGAGGAGGGAG	T8361260C	RERE	NM_001042681.2(RERE):c.2249_2270dup:p.Thr758fs	coding	Pathogenic
1	8361858	AG	A	G8361860C	RERE	NM_001042681.2(RERE):c.1920del:p.Ser641fs	coding	Pathogenic
1	8656049	C	CT	C8656058T	RERE	NM_001042681.2(RERE):c.248dup:p.Ser84fs	coding	Pathogenic
1	8656224	T	TTC	G8656237T	RERE	NM_001042681.2(RERE):c.62_63GA[7]:p.Lys25fs	coding	Pathogenic
1	8656247	T	TCGGTCC	T8656260C	RERE	NM_001042681.2(RERE):c.39_44GGACCG[3]:p.14_15DR[5]	coding	Benign
1	9244919	CCCCAGGCA	C	C9244928T	H6PD	NM_004285.3(H6PD):c.-7_1delCCCAGGCA	noncoding	Benign
1	9245257	AC	A	C9245259G	H6PD	NM_004285.4(H6PD):c.325del:p.Arg109fs	coding	Pathogenic
1	9264353	C	CACAGGTGGTTGACCTGTGGCCGGGTCTGA	G9264354A	H6PD	NM_004285.4(H6PD):c.1860_1861insACAGGTGGTTGACCTGTGGCCGGGTCTGA:p.Glu621delinsThrGlyGlyTer	coding	Pathogenic
1	9981092	GA	G	A9981095G	NMNAT1	NM_022787.4(NMNAT1):c.364del:p.Arg122fs	coding	Pathogenic
1	10258485	CTT	C	T10258487A	KIF1B	NM_015074.3(KIF1B):c.184-6_184-5del	noncoding	Benign/Likely_benign
1	10267565	T	TA	G10267567A	KIF1B	NM_015074.3(KIF1B):c.608+8dup	noncoding	Benign/Likely_benign
1	10279151	CAT	C	A10279154T	KIF1B	NM_001365951.3(KIF1B):c.1222+16_1222+17del	noncoding	Benign
1	10297148	A	AT	A10297166T	KIF1B	NM_001365951.3(KIF1B):c.2043-9dup	noncoding	Benign
1	10297148	AT	A	T10297165A	KIF1B	NM_001365951.3(KIF1B):c.2043-9del	noncoding	Benign
1	10339753	TA	T	A10339754T	KIF1B	NM_015074.3(KIF1B):c.3285-15del	noncoding	Benign/Likely_benign
1	10376834	AAC	A	C10376866T	KIF1B	NM_001365951.2(KIF1B):c.*249_*250CA[15]	noncoding	Benign
1	11024947	A	ATGTTT	A11024949G	MASP2;TARDBP	NM_007375.3(TARDBP):c.*2294_*2295insGTTTT	noncoding	Benign
1	11130640	CGTGGTGGCGGCA	C	G11130650T	MTOR	NM_004958.4(MTOR):c.5490_5501del:p.1830_1833TAAT[1]	coding	Benign
1	11134342	GG	AC	G11134342A	MTOR	NM_004958.4(MTOR):c.5246+8_5246+9delinsGT	noncoding	Benign
1	11209461	ACAACCAAAGAT	A	C11209462T	MTOR	NM_004958.4(MTOR):c.3655-14_3655-4del	noncoding	Benign
1	11287098	C	CTGTT	A11287101T	UBIAD1	NM_013319.2(UBIAD1):c.*969_*970insTTTG	noncoding	Benign
1	11287944	AAAAG	A	G11287948A	UBIAD1	NM_001330349.1(UBIAD1):c.618+2216_618+2219del	noncoding	Benign
1	11786035	G	GT	C11786047T	MTHFR	NM_001010881.2(C1orf167):c.3567+757dup	coding	Benign
1	11790853	CA	AC	C11790853A	MTHFR	NM_001330358.1(MTHFR):c.1920_1921delinsGT:p.Tyr640_Glu641delinsTer	coding	Pathogenic
1	11792316	AC	A	C11792317T	MTHFR	NM_005957.4(MTHFR):c.1593del:p.Lys531fs	coding	Pathogenic
1	11792316	ACTT	A	T11792321A	MTHFR	NM_005957.5(MTHFR):c.1588_1590AAG[1]:p.Lys531del	coding	Pathogenic
1	11792367	ACT	A	C11792370A	MTHFR	NM_005957.5(MTHFR):c.1539_1540AG[1]:p.Glu514fs	coding	Pathogenic
1	11794539	CT	C	T11794540G	MTHFR	NM_005957.4(MTHFR):c.1167-2del	noncoding	Pathogenic
1	11795117	TC	T	C11795121A	MTHFR	NM_005957.5(MTHFR):c.1011del:p.Met338fs	coding	Pathogenic
1	11795261	T	TC	G11795262C	MTHFR	NM_005957.5(MTHFR):c.867_868insG:p.Asn290fs	coding	Pathogenic
1	11795264	CTT	C	T11795266G	MTHFR	NM_005957.5(MTHFR):c.863_864del:p.Lys288fs	coding	Pathogenic
1	11796306	GTGA	G	T11796313A	MTHFR	NM_001330358.1(MTHFR):c.794_796TCA[2]:p.Ile267del	coding	Pathogenic
1	11796323	TC	T	C11796326G	MTHFR	NM_005957.4(MTHFR):c.662del:p.Gly221fs	coding	Pathogenic
1	11801189	GC	AA	G11801189A	MTHFR	NM_005957.5(MTHFR):c.446_447delinsTT:p.Gly149Val	coding	Pathogenic
1	11801333	A	AGGGTCACCTGCTGGGTGCCAGGTCACGTCTATGTAGAGG	C11801376T	MTHFR	NM_005957.4(MTHFR):c.264_302dup:p.Leu89_Pro101dup	coding	Pathogenic
1	11803155	CAG	C	A11803156G	MTHFR	NM_005957.4(MTHFR):c.-13-28_-13-27del	noncoding	Pathogenic
1	11846007	CTT	C	T11846008C	NPPA	NM_006172.4(NPPA):c.456_*1del:p.Ter152TrpextTer?	noncoding	Pathogenic
1	11950377	CG	C	G11950381C	PLOD1	NM_000302.4(PLOD1):c.327del:p.Arg111fs	coding	Pathogenic
1	11950455	CA	C	A11950456G	PLOD1	NM_000302.4(PLOD1):c.402del:p.Asp135fs	coding	Pathogenic
1	11950455	CAGACCGCAGGCTGGAGACCA	C	A11950458T	PLOD1	NM_000302.4(PLOD1):c.404_423del:p.Asp135fs	coding	Pathogenic
1	11958586	T	TCCAGCGGCTCCTG	G11958601C	PLOD1	NM_000302.4(PLOD1):c.916_928dup:p.Arg310fs	coding	Pathogenic
1	11965487	T	TC	A11965489C	PLOD1	NM_000302.4(PLOD1):c.1479dup:p.Met494fs	coding	Pathogenic
1	11966257	AAGG	A	G11966260A	PLOD1	NM_000302.4(PLOD1):c.1594_1596del:p.Glu532del	coding	Pathogenic
1	11966984	CA	C	A11966985G	PLOD1	NM_000302.4(PLOD1):c.1651-2del	noncoding	Pathogenic
1	11970683	AG	A	G11970686T	PLOD1	NM_000302.4(PLOD1):c.1772del:p.Gly591fs	coding	Pathogenic
1	11970708	TA	T	A11970709T	PLOD1	NM_000302.4(PLOD1):c.1795del:p.Ile599fs	coding	Pathogenic
1	11989561	CAT	C	A11989562G	MFN2	NM_014874.3(MFN2):c.175+219_175+220del	noncoding	Benign
1	11996247	C	CG	T11996251G	MFN2	NM_014874.3(MFN2):c.406dup:p.Val136fs	coding	Pathogenic/Likely_pathogenic
1	11998841	TGCTGGTG	T	T11998844C	MFN2	NM_014874.3(MFN2):c.674_680del:p.Leu225fs	coding	Pathogenic
1	12005825	TC	T	C12005827A	MFN2	NM_014874.4(MFN2):c.1612del:p.Gln538fs	coding	Pathogenic
1	12009613	TC	T	C12009614A	MFN2	NM_014874.4(MFN2):c.2092del:p.His698fs	coding	Pathogenic
1	12318254	CTG	C	T12318257A	VPS13D	NM_015378.4(VPS13D):c.7332_7333TG[1]:p.Val2445fs	coding	Pathogenic
1	13779899	A	ACTC	G13779905C	PRDM2	NM_001135610.2(PRDM2):c.511+30415_511+30417dup	coding	Benign
1	15442521	TG	T	G15442524T	CTRC	NM_007272.3(CTRC):c.308del:p.Gly103fs	coding	Pathogenic
1	15443380	G	GC	T15443384C	CTRC	NM_007272.3(CTRC):c.357-36dup	noncoding	Benign
1	15445554	TG	T	G15445563C	CTRC	NM_007272.3(CTRC):c.640-34del	noncoding	Benign
1	15445687	AACACCCGCAAGAAGCCGGTAGTCT	A	C15445695G	CTRC	NM_007272.3(CTRC):c.738_761del:p.Lys247_Arg254del	coding	Pathogenic
1	15716228	TTC	T	C15716230T	PLEKHM2	NM_015164.4(PLEKHM2):c.61-7_61-6del	noncoding	Benign
1	16029304	GC	G	C16029309T	CLCNKA	NM_004070.4(CLCNKA):c.1227+10del	noncoding	Benign
1	16044506	T	TG	C16044511G	CLCNKB	NM_000085.4(CLCNKB):c.18dup:p.Leu7fs	coding	Pathogenic
1	16044564	CT	C	T16044565G	CLCNKB	NM_000085.4(CLCNKB):c.73del:p.Cys25fs	coding	Pathogenic
1	16048482	GC	G	C16048485T	CLCNKB	NM_000085.4(CLCNKB):c.577-19del	noncoding	Benign
1	16048568	CA	GC	C16048568G	CLCNKB	NM_000085.5(CLCNKB):c.641_642delinsGC:p.Ala214Gly	coding	Benign
1	16051792	C	CA	T16051794A	CLCNKB	NM_000085.4(CLCNKB):c.1381dup:p.Ile461fs	coding	Pathogenic
1	16051800	CA	C	A16051801G	CLCNKB	NM_000085.5(CLCNKB):c.1389del:p.Tyr466fs	coding	Pathogenic
1	16052263	AC	A	C16052265G	CLCNKB	NM_000085.5(CLCNKB):c.1476del:p.Gly493fs	coding	Pathogenic
1	16053707	TG	T	G16053709A	CLCNKB;LOC106501713	NM_000085.4(CLCNKB):c.1693del:p.Glu565fs	coding	Pathogenic
1	16125229	CCA	C	C16125232G	EPHA2	NM_004431.5(EPHA2):c.2913_2914TG[1]:p.Val972fs	coding	Pathogenic
1	16125254	TC	T	C16125257A	EPHA2	NM_004431.5(EPHA2):c.2891del:p.Gly964fs	coding	Pathogenic
1	16398827	GGA	G	A16398831G	SPATA21	NM_198546.1(SPATA21):c.1353-7_1353-6del	noncoding	Benign
1	16986881	CAG	C	G16986887A	ATP13A2	NM_022089.4(ATP13A2):c.3153_3154CT[2]:p.Leu1053fs	coding	Pathogenic
1	16986885	GAGA	G	A16986889C	ATP13A2	NM_022089.4(ATP13A2):c.3149_3151TCT[1]:p.Phe1051del	coding	Pathogenic
1	16987071	AG	A	G16987072C	ATP13A2	NM_022089.4(ATP13A2):c.3057del:p.Tyr1020fs	coding	Pathogenic/Likely_pathogenic
1	16989746	CAA	C	A16989748G	ATP13A2	NM_022089.4(ATP13A2):c.2552_2553del:p.Phe851fs	coding	Pathogenic
1	16997112	G	GTC	G16997118C	ATP13A2	NM_022089.4(ATP13A2):c.1099_1100GA[3]:p.Thr368fs	coding	Pathogenic
1	17004759	AC	A	C17004761G	ATP13A2	NM_022089.4(ATP13A2):c.409del:p.Val137fs	coding	Pathogenic
1	17022574	TGAGGCAGAGCTGAGGGTCACCAGCCCCACGTACCTTAG	T	G17022577C	SDHB	NM_003000.3(SDHB):c.761_765+33del	noncoding	Pathogenic
1	17022611	A	AG	A17022614G	SDHB	NM_003000.2(SDHB):c.761dup:p.Pro254_Lys255insTer	coding	Pathogenic
1	17022651	TATAG	T	T17022653G	SDHB	NM_003000.2(SDHB):c.718_721del:p.Leu240fs	coding	Pathogenic
1	17022653	TAGAG	T	G17022657A	SDHB	NM_003000.3(SDHB):c.714_715CT[1]:p.Ser239fs	coding	Pathogenic
1	17022655	G	GA	G17022657A	SDHB	NM_003000.2(SDHB):c.717dup:p.Leu240fs	coding	Pathogenic
1	17022659	GA	G	A17022661T	SDHB	NM_003000.2(SDHB):c.713del:p.Phe238fs	coding	Pathogenic
1	17022665	G	GTCCTGCAGCTTGGCCAGGCGCTCCTCTGTGAAGTCATCTCTGGAGTCAATCA	A17022721T	SDHB	NM_003000.2(SDHB):c.656_707dup:p.Pro237_Phe238insAspTer	coding	Pathogenic
1	17022684	C	CG	C17022686G	SDHB	NM_003000.3(SDHB):c.688dup:p.Arg230fs	coding	Pathogenic
1	17022687	T	TCCTCTGTGAAGCG	T17022699C	SDHB	NM_003000.2(SDHB):c.685_686insCGCTTCACAGAGG:p.Glu229fs	coding	Pathogenic
1	17022688	CCT	C	C17022691G	SDHB	NM_003000.2(SDHB):c.683_684delAG	coding	Pathogenic
1	17022695	GA	G	A17022697G	SDHB	NM_003000.3(SDHB):c.677del:p.Phe226fs	coding	Pathogenic
1	17023966	ACCTCACC	A	C17023967T	SDHB	NM_003000.2(SDHB):c.642_642+6del	noncoding	Pathogenic
1	17023975	GC	G	C17023976A	SDHB	NM_003000.2(SDHB):c.639del:p.Met213fs	coding	Pathogenic
1	17023992	C	CCCAGATATTTGTCT	G17024009A	SDHB	NM_003000.2(SDHB):c.609_622dup:p.Gly208fs	coding	Pathogenic
1	17023993	CCA	C	C17023994G	SDHB	NM_003000.2(SDHB):c.620_621del:p.Leu207fs	coding	Pathogenic
1	17023998	TATTTGTCTCC	T	A17023999G	SDHB	NM_003000.2(SDHB):c.607_616del:p.Gly203fs	coding	Pathogenic
1	17024005	C	CTCCGT	A17024014G	SDHB	NM_003000.2(SDHB):c.605_609dup:p.Asp204fs	coding	Pathogenic
1	17024006	TC	T	C17024008G	SDHB	NM_003000.2(SDHB):c.608del:p.Gly203fs	coding	Pathogenic
1	17024009	G	GT	C17024012T	SDHB	NM_003000.2(SDHB):c.605dup:p.Asn202fs	coding	Pathogenic
1	17024011	TCCACCAGTA	CC	T17024011C	SDHB	NM_003000.2(SDHB):c.595_604delinsGG:p.Tyr199fs	coding	Pathogenic
1	17024023	TG	T	G17024027C	SDHB	NM_003000.2(SDHB):c.591del:p.Ser198fs	coding	Pathogenic
1	17027751	G	GT	C17027755T	SDHB	NM_003000.2(SDHB):c.537dup:p.Leu180fs	coding	Pathogenic
1	17027762	TCTTC	CCTT	T17027762C	SDHB	NM_003000.2(SDHB):c.523_527delinsAAGG:p.Glu175fs	coding	Pathogenic
1	17027765	T	TC	T17027767C	SDHB	NM_003000.3(SDHB):c.523dup:p.Glu175fs	coding	Pathogenic
1	17027797	CT	C	T17027798G	SDHB	NM_003000.2(SDHB):c.491del:p.Gln164fs	coding	Pathogenic
1	17027807	TC	T	C17027809T	SDHB	NM_003000.2(SDHB):c.481del:p.Asp161fs	coding	Pathogenic
1	17027842	CTG	AGATACC	C17027842A	SDHB	NM_003000.2(SDHB):c.445_447delinsGGTATCT:p.Gln149fs	coding	Pathogenic
1	17027846	GC	G	C17027847A	SDHB	NM_003000.2(SDHB):c.442del:p.Ala148fs	coding	Pathogenic
1	17027878	GGAA	G	G17027900A	SDHB	NM_003000.3(SDHB):c.424-37TTC[7]	noncoding	Benign
1	17027878	G	GGAAGAA	A17027903G	SDHB	NM_003000.2(SDHB):c.424-37TTC[10]	noncoding	Benign/Likely_benign
1	17028623	A	AC	A17028625C	SDHB	NM_003000.2(SDHB):c.399dup:p.Tyr134fs	coding	Pathogenic
1	17028630	TG	T	G17028632A	SDHB	NM_003000.2(SDHB):c.392del:p.Pro131fs	coding	Pathogenic
1	17028643	A	AT	G17028649T	SDHB	NM_003000.2(SDHB):c.379dup:p.Ile127fs	coding	Pathogenic
1	17028653	C	CT	C17028654T	SDHB	NM_003000.2(SDHB):c.369_370insA:p.Val124fs	coding	Pathogenic
1	17028689	C	CTAGA	G17028694T	SDHB	NM_003000.2(SDHB):c.330_333dup:p.Ala112fs	coding	Pathogenic
1	17028690	TAG	T	A17028693T	SDHB	NM_003000.2(SDHB):c.329_330CT[1]:p.Leu111fs	coding	Pathogenic
1	17028712	T	CC	T17028712C	SDHB	NM_003000.2(SDHB):c.311delinsGG:p.Asn104fs	coding	Pathogenic
1	17033135	T	TG	C17033140G	SDHB	NM_003000.2(SDHB):c.210dup:p.Met71fs	coding	Pathogenic
1	17044770	TC	T	C17044771A	SDHB	NM_003000.2(SDHB):c.190del:p.Asp64fs	coding	Pathogenic
1	17044790	ATGAGG	A	G17044792T	SDHB	NM_003000.2(SDHB):c.166_170del:p.Pro56fs	coding	Pathogenic
1	17044809	T	TTGTC	G17044816T	SDHB	NM_003000.2(SDHB):c.148_151dup:p.Lys51fs	coding	Pathogenic
1	17044816	G	GGT	C17044819G	SDHB	NM_003000.2(SDHB):c.143_144dup:p.Pro49fs	coding	Pathogenic
1	17044834	CA	C	A17044837T	SDHB	NM_003000.2(SDHB):c.126del:p.Phe42fs	coding	Pathogenic
1	17044848	C	CGG	A17044853G	SDHB	NM_003000.2(SDHB):c.111_112dup:p.Arg38fs	coding	Pathogenic
1	17044848	CG	C	G17044852A	SDHB	NM_003000.2(SDHB):c.112del:p.Arg38fs	coding	Pathogenic
1	17044872	TG	T	G17044875C	SDHB	NM_003000.2(SDHB):c.88del:p.Gln30fs	coding	Pathogenic
1	17053947	CCTGCAGGCAGGCTCCGCCAAGGGTTGTGGCCGGCAACCGGCGCCTCAAGGAGAGGGCGACCACCGCCGCCAT	C	G17053950T	SDHB	NM_003000.2(SDHB):c.1_72del:p.Met1_Gln24del	coding	Pathogenic
1	17053948	C	CT	G17053950T	SDHB	NM_003000.2(SDHB):c.71dup:p.Ala25fs	coding	Pathogenic/Likely_pathogenic
1	17053956	A	AG	C17053959G	SDHB	NM_003000.3(SDHB):c.63dup:p.Cys22fs	coding	Pathogenic
1	17053977	C	CCGGCAACCGGCGCCTCAAGGAGAGGG	A17054006G	SDHB	NM_003000.2(SDHB):c.17_42dup:p.Ala15delinsProSerProTer	coding	Pathogenic
1	17053996	GGA	G	A17054000G	SDHB	NM_003000.2(SDHB):c.22_23delTC	coding	Pathogenic
1	17053998	AG	A	G17053999A	SDHB	NM_003000.2(SDHB):c.21del:p.Ser8fs	coding	Pathogenic
1	17401359	CAG	C	A17401362G	PADI6	NM_207421.4(PADI6):c.2007_2008AG[1]:p.Glu670fs	coding	Pathogenic
1	18874481	C	CA	G18874485A	ALDH4A1	NM_003748.4(ALDH4A1):c.1560dup:p.Gly521fs	coding	Pathogenic
1	19978419	CCA	C	C19978422G	PLA2G2A	NM_000300.4(PLA2G2A):c.142_143TG[1]:p.Cys48fs	coding	Pathogenic
1	20089882	C	CG	T20089884G	PLA2G5	NM_000929.3(PLA2G5):c.280dup:p.Val94fs	coding	Pathogenic
1	20633820	GC	G	C20633821T	PINK1	NM_032409.3(PINK1):c.273del:p.Cys92fs	coding	Pathogenic
1	20638052	GC	G	C20638053A	PINK1	NM_032409.3(PINK1):c.599del:p.Ala200fs	coding	Pathogenic
1	20638073	CG	C	G20638074A	PINK1	NM_032409.3(PINK1):c.620del:p.Arg207fs	coding	Pathogenic
1	20650512	A	AAGTT	A20650519T	PINK1	NM_032409.3(PINK1):c.1570_1573dup:p.Asp525fs	coding	Pathogenic
1	20650541	C	CCAA	T20650548C	PINK1	NM_032409.3(PINK1):c.1597_1599CAA[3]:p.Gln534dup	coding	Pathogenic
1	20652463	GTAGTAGGGGTAGGCCGAGGGGA	G	A20652465G	DDOST	NM_005216.4(DDOST):c.1265_1286del:p.Ile422fs	coding	Pathogenic
1	21554098	TA	T	A21554099G	ALPL	NM_000478.6(ALPL):c.18del:p.Val7fs	coding	Pathogenic
1	21554102	ACTGGCCATTGG	GTGT	A21554102G	ALPL	NM_000478.6(ALPL):c.21_32delinsGTGT:p.Leu8fs	coding	Pathogenic
1	21554123	TACTA	T	A21554127C	ALPL	NM_000478.6(ALPL):c.46_49del:p.Asn16fs	coding	Pathogenic/Likely_pathogenic
1	21563169	TGG	T	G21563172T	ALPL	NM_000478.6(ALPL):c.360_361del:p.Val121fs	coding	Pathogenic
1	21563212	AC	CA	A21563212C	ALPL	NM_000478.6(ALPL):c.400_401delinsCA:p.Thr134His	coding	Pathogenic/Likely_pathogenic
1	21563291	CG	C	G21563296A	ALPL	NM_000478.6(ALPL):c.472+12del	noncoding	Benign/Likely_benign
1	21564085	AC	A	C21564090A	ALPL	NM_000478.6(ALPL):c.522del:p.Ser175fs	coding	Pathogenic/Likely_pathogenic
1	21568111	T	TG	T21568118G	ALPL	NM_000478.6(ALPL):c.662dup:p.Gly222fs	coding	Pathogenic/Likely_pathogenic
1	21568169	TG	T	G21568170A	ALPL	NM_000478.6(ALPL):c.715del:p.Asp239fs	coding	Pathogenic
1	21573779	GCTT	G	C21573786G	ALPL	NM_000478.6(ALPL):c.978_980CTT[2]:p.Phe328del	coding	Pathogenic/Likely_pathogenic
1	21575749	C	CG	C21575753G	ALPL	NM_000478.6(ALPL):c.1017dup:p.His340fs	coding	Pathogenic/Likely_pathogenic
1	21575811	T	TCGGG	A21575817G	ALPL	NM_000478.6(ALPL):c.1078_1081dup:p.Gln361fs	coding	Pathogenic
1	21575831	ACCT	A	C21575836G	ALPL	NM_000478.6(ALPL):c.1098_1100CTC[1]:p.Ser368del	coding	Pathogenic
1	21575916	C	CT	A21575918T	ALPL	NM_000478.6(ALPL):c.1182dup:p.Ile395fs	coding	Pathogenic/Likely_pathogenic
1	21577631	CT	C	T21577632G	ALPL	NM_000478.6(ALPL):c.1559del:p.Leu520fs	coding	Pathogenic
1	21841292	GG	AA	G21841292A	HSPG2	NM_005529.7(HSPG2):c.9329-8_9329-7delinsTT	noncoding	Benign
1	21856983	AG	GT	A21856983G	HSPG2	NM_005529.7(HSPG2):c.5575+31_5575+32delinsAC	noncoding	Benign
1	21872243	GGCAAAGTTGCCAAAAGAGA	G	A21872246T	HSPG2	NM_005529.7(HSPG2):c.4145_4163del:p.Leu1382fs	coding	Pathogenic
1	21874458	TC	A	T21874458A	HSPG2	NM_005529.7(HSPG2):c.3603_3604delinsT:p.Thr1202fs	coding	Pathogenic
1	21880517	CCG	C	G21880523T	HSPG2	NM_005529.7(HSPG2):c.2035_2036CG[2]:p.Ala680fs	coding	Pathogenic
1	21881318	GT	CC	G21881318C	HSPG2	NM_005529.7(HSPG2):c.1818+20_1818+21delinsGG	noncoding	Benign
1	21881323	AG	CA	A21881323C	HSPG2	NM_005529.7(HSPG2):c.1818+15_1818+16delinsTG	noncoding	Benign
1	22647255	AC	A	C22647258A	C1QC	NM_172369.5(C1QC):c.213del:p.Gln74fs	coding	Pathogenic
1	23692643	AACTTCGC	A	C23692645T	RPL11	NM_000975.5(RPL11):c.43_49del:p.Leu15fs	coding	Pathogenic
1	23692659	ACT	A	C23692662G	RPL11	NM_000975.5(RPL11):c.58_59CT[1]:p.Cys21fs	coding	Pathogenic
1	23692662	CTG	C	G23692664C	RPL11	NM_000975.5(RPL11):c.62_63del:p.Cys21fs	coding	Pathogenic
1	23692711	GC	G	C23692713A	RPL11	NM_000975.5(RPL11):c.111del:p.Lys38fs	coding	Pathogenic
1	23692717	G	GT	G23692719T	RPL11	NM_000975.5(RPL11):c.116dup:p.Leu40fs	coding	Pathogenic
1	23692744	CCT	C	C23692745G	RPL11	NM_000975.5(RPL11):c.143_144del:p.Pro48fs	coding	Pathogenic
1	23693808	T	TA	G23693810A	RPL11	NM_000975.5(RPL11):c.160dup:p.Arg54fs	coding	Pathogenic
1	23693851	AT	A	T23693853G	RPL11	NM_000975.5(RPL11):c.204del:p.Ile68fs	coding	Pathogenic
1	23695875	CAA	C	A23695877G	RPL11	NM_000975.5(RPL11):c.476_477del:p.Lys159fs	coding	Pathogenic
1	23695878	AGAG	A	A23695883C	RPL11	NM_000975.5(RPL11):c.479_481AGG[1]:p.Glu161del	coding	Pathogenic
1	23796742	GC	G	C23796745T	GALE	NM_001008216.2(GALE):c.749del:p.Gly250fs	coding	Pathogenic
1	23798195	GA	G	A23798196G	GALE	NM_001008216.2(GALE):c.272del:p.Leu91fs	coding	Pathogenic
1	23802525	TAA	T	A23802527G	HMGCL	NM_000191.3(HMGCL):c.914_915del:p.Phe305fs	coding	Pathogenic
1	23810790	GGA	G	G23810793C	HMGCL	NM_000191.3(HMGCL):c.503_504TC[1]:p.Ser169fs	coding	Pathogenic
1	23814311	TGA	T	G23814312C	HMGCL	NM_000191.3(HMGCL):c.374_375del:p.Val125fs	coding	Pathogenic
1	23817520	CAG	C	A23817525T	HMGCL	NM_000191.3(HMGCL):c.202_203CT[2]:p.Ser69fs	coding	Pathogenic/Likely_pathogenic
1	23825388	GC	G	C23825389G	HMGCL	NM_000191.3(HMGCL):c.27del:p.Arg10fs	coding	Pathogenic
1	23854518	AG	A	G23854520A	FUCA1	NM_000147.4(FUCA1):c.810del:p.Cys271fs	coding	Pathogenic
1	23868049	GC	G	C23868051A	FUCA1	NM_000147.5(FUCA1):c.237del:p.Trp79fs	coding	Pathogenic
1	23868116	CT	C	T23868118G	FUCA1	NM_000147.5(FUCA1):c.170del:p.Lys57fs	coding	Pathogenic
1	24338064	T	TC	G24338068C	GRHL3	NM_198173.2(GRHL3):c.916delCinsCC:p.Arg306Profs	coding	Pathogenic
1	24339684	C	CTG	T24339686G	GRHL3	NM_198173.3(GRHL3):c.970_971insGT:p.Phe324fs	coding	Pathogenic
1	24342773	GT	G	T24342774C	GRHL3	NM_198173.3(GRHL3):c.1285+2del	noncoding	Pathogenic
1	24347482	CGGAG	C	G24347487A	GRHL3	NM_198173.3(GRHL3):c.1559_1562GGAG[1]:p.Glu522fs	coding	Pathogenic
1	25385733	T	TATGAAGC	C25385742T	RHCE	NM_020485.5(RHCE):c.1044_1050dup:p.Thr351fs	coding	Pathogenic
1	25543762	TG	T	G25543769C	LDLRAP1	NM_015627.2(LDLRAP1):c.71del:p.Gly24fs	coding	Pathogenic/Likely_pathogenic
1	25543762	T	TG	C25543770G	LDLRAP1	NM_015627.3(LDLRAP1):c.71dup:p.Gly25fs	coding	Pathogenic
1	25543770	C	CG	T25543773G	LDLRAP1	NM_015627.3(LDLRAP1):c.74dup:p.Gly26fs	coding	Pathogenic
1	25554893	ACT	A	C25554896G	LDLRAP1	NM_015627.3(LDLRAP1):c.268_269del:p.Leu90fs	coding	Pathogenic
1	25557238	C	CA	C25557240A	LDLRAP1	NM_015627.3(LDLRAP1):c.431dup:p.His144fs	coding	Pathogenic
1	25557240	C	CA	G25557241A	LDLRAP1	NM_015627.2(LDLRAP1):c.432_433insA:p.Ala145fs	coding	Pathogenic
1	25563104	AG	A	G25563108A	LDLRAP1	NM_015627.3(LDLRAP1):c.571del:p.Asp191fs	coding	Pathogenic
1	25563135	A	AC	T25563141C	LDLRAP1	NM_015627.3(LDLRAP1):c.603dup:p.Ser202fs	coding	Pathogenic
1	25563697	CA	TG	C25563697T	LDLRAP1	NM_015627.3(LDLRAP1):c.653_654inv:p.Thr218Met	coding	Benign/Likely_benign
1	25567436	AT	A	T25567441C	LDLRAP1	NM_015627.2(LDLRAP1):c.*449del	noncoding	Benign
1	25567977	C	CTG	A25567978T	LDLRAP1	NM_015627.2(LDLRAP1):c.*985_*986insTG	noncoding	Benign
1	25800158	CGGCCGCCCCGCCCCCGGCCCCGCCCCGCTCTTTCGCTTCCCGGGCCGCCGGCAGCCGCCGCCAGCCGCAGCCATGGGCCGGGCCCGGCCGGGCCAACGCG	C	C25800167A	SELENON	NM_020451.3(SELENON):c.-64_36del	noncoding	Pathogenic
1	25800174	GGCCCCGCCCCGCTCTTTCGCTTCCCGGGCCGCCGGCAGCCGCCGCCAGCCGCAGCCATGGGCCGGGCCCGGCCGGGCCAACGCGGGCCGCCCAGCCCCGGCCCCGCCGCGCAGCCTCCCGCGCCACCGCGCCGCCGCGCCCGTTCCCTGGCGCTGCTCGGAGCCCTGCTGGCCGCCGCCGCTGCCGCCGCCGTCCGGGTCTGCGCCCGCCACGCCGAGGCCCAGGCGGCCGCGCGGCA	G	C25800176G	SELENON	NM_020451.3(SELENON):c.-55_183del	noncoding	Pathogenic
1	25800211	AGCCGCCGCCAGCCGCAGCCATGGGCCGGGCCCGGCCGGGCCAACGCGGGCCGCCCAGCCCCGGCCCCGCCGCGCAGCCTCCCGCGCCACCGC	A	C25800220G	SELENON	NM_020451.3(SELENON):c.-11_81del:p.Met1fs	noncoding	Pathogenic
1	25800232	TGGGCCGGGCCCGGCCGGGCCAACGC	T	G25800239C	SELENON	NM_020451.3(SELENON):c.9_33del:p.Ala4fs	coding	Pathogenic
1	25800232	T	TGGGCC	C25800243G	SELENON	NM_020451.3(SELENON):c.3_7GGGCC[3]:p.Arg5fs	coding	Pathogenic
1	25800233	G	GGGCCGGGCCC	A25800253C	SELENON	NM_020451.3(SELENON):c.13_22dup:p.Gln8fs	coding	Pathogenic
1	25800248	G	GGGCCAACGCGGGCCGCCCAGCCCCGGCCC	C25800278G	SELENON	NM_020451.3(SELENON):c.19_47dup:p.Ala18fs	coding	Pathogenic
1	25800270	C	CCCGGCCCCGCCGCGCAGCCTCCCGCGCCA	C25800303G	SELENON	NM_020451.3(SELENON):c.44_72dup:p.Arg25fs	coding	Pathogenic
1	25801105	C	CGG	A25801110G	SELENON	NM_020451.3(SELENON):c.249_250dup:p.Asp84fs	coding	Pathogenic
1	25801158	CA	C	A25801159G	SELENON	NM_020451.3(SELENON):c.300del:p.Ser102fs	coding	Pathogenic
1	25808683	GC	G	C25808685A	SELENON	NM_020451.3(SELENON):c.643del:p.Gln215fs	coding	Pathogenic
1	25808724	C	CTGAGCAT	G25808732T	SELENON	NM_020451.3(SELENON):c.683_689dup:p.Met230fs	coding	Pathogenic
1	25808753	C	CA	C25808756A	SELENON	NM_020451.3(SELENON):c.713dup:p.Asn238fs	coding	Pathogenic
1	25808786	GGAGGTGAGGACAGCTGGGGTGCGACGTGGGGCCCCTCC	G	A25808788C	SELENON	NM_020451.3(SELENON):c.746_747+36del	coding	Pathogenic
1	25809138	CTG	C	T25809141A	SELENON	NM_020451.3(SELENON):c.863_864del:p.Val288fs	coding	Pathogenic
1	25809805	TCGTG	T	G25809807C	SELENON	NM_020451.3(SELENON):c.997_1000del:p.Val333fs	coding	Pathogenic
1	25811806	T	TC	A25811808C	SELENON	NM_020451.3(SELENON):c.1209dup:p.Lys404fs	coding	Pathogenic
1	26061184	ACT	A	C26061187G	TRIM63	NM_032588.4(TRIM63):c.481_482del:p.Ser161fs	coding	Pathogenic
1	26183819	AC	A	C26183826A	CNKSR1	NM_006314.3(CNKSR1):c.851del:p.Pro284fs	coding	Benign
1	26696421	CCCCGCCGCCGCCAGCAGCCTGGGCAA	C	A26696434G	ARID1A	NM_006015.6(ARID1A):c.31_56del:p.Ser11fs	coding	Pathogenic
1	26696516	A	AGGC	A26696532G	ARID1A	NM_006015.6(ARID1A):c.114_116GGC[6]:p.Ala45dup	coding	Benign/Likely_benign
1	26696793	TG	T	G26696797T	ARID1A	NM_006015.6(ARID1A):c.394del:p.Val132fs	coding	Pathogenic
1	26697152	A	AGCCGCCTCCCTCCTCCAGCGCC	T26697175G	ARID1A	NM_006015.6(ARID1A):c.750_771dup:p.Ser258fs	coding	Pathogenic
1	26697316	GCCCGGGGCTACCAGGGCTAC	G	C26697324G	ARID1A	NM_006015.6(ARID1A):c.921_940del:p.Tyr308fs	coding	Pathogenic
1	26697510	CG	C	G26697516C	ARID1A	NM_006015.6(ARID1A):c.1113del:p.Gln372fs	coding	Pathogenic
1	26767997	C	CAA	G26767999A	ARID1A	NM_006015.6(ARID1A):c.3197_3198insAA:p.Val1067fs	coding	Pathogenic
1	26773661	GGG	CTAGGA	G26773661C	ARID1A	NM_006015.6(ARID1A):c.3948_3950delinsCTAGGA:p.Gly1317Ter	coding	Pathogenic
1	26773690	C	CGCA	A26773715G	ARID1A	NM_006015.6(ARID1A):c.3978_3980GCA[9]:p.Gln1334dup	coding	Benign/Likely_benign
1	26773690	CGCA	C	G26773712A	ARID1A	NM_006015.6(ARID1A):c.3978_3980GCA[7]:p.Gln1334del	coding	Benign
1	26779159	CT	C	T26779160A	ARID1A	NM_006015.6(ARID1A):c.5262del:p.Ser1755fs	coding	Pathogenic
1	26779245	GA	G	A26779249T	ARID1A	NM_006015.6(ARID1A):c.5351del:p.Asn1784fs	coding	Pathogenic
1	26779586	GC	G	C26779591A	ARID1A	NM_006015.6(ARID1A):c.5693del:p.Pro1898fs	coding	Pathogenic
1	26780031	AAAGTG	A	A26780032G	ARID1A	NM_006015.6(ARID1A):c.6134_6138del:p.Lys2045fs	coding	Pathogenic
1	27102395	CGGT	C	T27102398A	SLC9A1	NM_003047.5(SLC9A1):c.1807_1809del:p.Thr603del	coding	Benign
1	27109728	AT	A	T27109729G	SLC9A1	NM_003047.5(SLC9A1):c.862del:p.Ile288fs	coding	Pathogenic
1	27547568	CT	C	T27547570G	AHDC1	NM_001371928.1(AHDC1):c.4547del:p.Lys1516fs	coding	Pathogenic
1	27547633	TC	T	C27547635T	AHDC1	NM_001029882.3(AHDC1):c.4482del:p.Thr1495fs	coding	Pathogenic
1	27547686	GG	A	G27547686A	AHDC1	NM_001029882.3(AHDC1):c.4429_4430delinsT:p.Pro1477fs	coding	Pathogenic
1	27547692	CG	C	G27547695C	AHDC1	NM_001371928.1(AHDC1):c.4423del:p.Arg1475fs	coding	Pathogenic
1	27548306	CT	C	T27548307G	AHDC1	NM_001029882.3(AHDC1):c.3809del:p.Gln1270fs	coding	Pathogenic
1	27548796	TGAGAA	T	A27548798C	AHDC1	NM_001029882.3(AHDC1):c.3315_3319del:p.Ser1106fs	coding	Pathogenic
1	27548873	TGCAGAGGTG	T	T27548881C	AHDC1	NM_001371928.1(AHDC1):c.3234_3242del:p.Thr1079_Ala1081del	coding	Benign
1	27548929	CTG	C	T27548932C	AHDC1	NM_001371928.1(AHDC1):c.3185_3186del:p.Thr1062fs	coding	Pathogenic
1	27548969	TGA	T	G27548970A	AHDC1	NM_001371928.1(AHDC1):c.3145_3146del:p.Ala1050fs	coding	Pathogenic
1	27549167	T	TG	C27549172G	AHDC1	NM_001371928.1(AHDC1):c.2948dup:p.Thr984fs	coding	Pathogenic
1	27549217	AG	A	G27549219T	AHDC1	NM_001029882.3(AHDC1):c.2898del:p.Tyr967fs	coding	Pathogenic
1	27549234	TG	T	G27549237T	AHDC1	NM_001029882.3(AHDC1):c.2881del:p.His961fs	coding	Pathogenic
1	27549369	GA	G	A27549370C	AHDC1	NM_001029882.3(AHDC1):c.2746del:p.Ser916fs	coding	Pathogenic
1	27549422	C	CA	C27549424A	AHDC1	NM_001029882.3(AHDC1):c.2693dup:p.Ala899fs	coding	Pathogenic
1	27549424	CT	C	T27549425G	AHDC1	NM_001029882.3(AHDC1):c.2691del:p.Val898fs	coding	Pathogenic
1	27549487	TG	T	G27549489T	AHDC1	NM_001029882.3(AHDC1):c.2628del:p.Ser877fs	coding	Pathogenic
1	27549568	AG	A	G27549570A	AHDC1	NM_001029882.3(AHDC1):c.2547del:p.Ser850fs	coding	Pathogenic
1	27549570	GAGTCATCCGAATCGAGC	G	T27549573C	AHDC1	NM_001029882.3(AHDC1):c.2529_2545del:p.Asp845fs	coding	Pathogenic
1	27549739	ACC	A	C27549741A	AHDC1	NM_001029882.3(AHDC1):c.2375_2376del:p.Gly792fs	coding	Pathogenic
1	27549741	CCA	C	C27549744G	AHDC1	NM_001029882.3(AHDC1):c.2371_2372TG[1]:p.Cys791fs	coding	Pathogenic
1	27549886	AC	A	C27549888G	AHDC1	NM_001029882.3(AHDC1):c.2229del:p.Ser744fs	coding	Pathogenic
1	27549921	TCTAC	T	A27549924C	AHDC1	NM_001371928.1(AHDC1):c.2191_2194del:p.Val731fs	coding	Pathogenic
1	27550090	C	AA	C27550090A	AHDC1	NM_001029882.3(AHDC1):c.2026delinsTT:p.Gly676fs	coding	Pathogenic
1	27550170	GC	G	C27550172T	AHDC1	NM_001029882.3(AHDC1):c.1945del:p.Ala649fs	coding	Pathogenic
1	27550205	G	GC	A27550207C	AHDC1	NM_001371928.1(AHDC1):c.1910dup:p.Cys637fs	coding	Pathogenic
1	27550234	AC	A	C27550235T	AHDC1	NM_001029882.3(AHDC1):c.1881del:p.Gln627fs	coding	Pathogenic
1	27550305	TC	T	C27550306T	AHDC1	NM_001029882.3(AHDC1):c.1810del:p.Asp604fs	coding	Pathogenic
1	27550357	G	GT	A27550365T	AHDC1	NM_001371928.1(AHDC1):c.1758dup:p.Arg587fs	coding	Pathogenic
1	27550357	GTTTT	G	T27550361A	AHDC1	NM_001029882.3(AHDC1):c.1755_1758del:p.Lys585fs	coding	Pathogenic
1	27550564	TG	T	G27550567C	AHDC1	NM_001371928.1(AHDC1):c.1551del:p.Thr518fs	coding	Pathogenic
1	27550667	T	TA	C27550669A	AHDC1	NM_001371928.1(AHDC1):c.1448dup:p.Ser484fs	coding	Pathogenic
1	27550682	CA	C	A27550683T	AHDC1	NM_001371928.1(AHDC1):c.1433del:p.Met478fs	coding	Pathogenic
1	27550713	C	CA	C27550715A	AHDC1	NM_001029882.3(AHDC1):c.1402dup:p.Cys468fs	coding	Pathogenic
1	27550826	TG	T	G27550831T	AHDC1	NM_001371928.1(AHDC1):c.1289del:p.Pro430fs	coding	Pathogenic
1	27550962	C	CTTGCGGCG	G27550963T	AHDC1	NM_001029882.3(AHDC1):c.1153_1154insCGCCGCAA:p.Arg385fs	coding	Pathogenic
1	27550993	C	CG	C27551001G	AHDC1	NM_001029882.3(AHDC1):c.1122dup:p.Gly375fs	coding	Pathogenic
1	27551118	GC	G	C27551120T	AHDC1	NM_001029882.3(AHDC1):c.997del:p.Ala333fs	coding	Pathogenic/Likely_pathogenic
1	27551171	C	CT	G27551173T	AHDC1	NM_001371928.1(AHDC1):c.944dup:p.Ala316fs	coding	Pathogenic
1	27551304	GGCTC	G	C27551306G	AHDC1	NM_001371928.1(AHDC1):c.808_811del:p.Glu270fs	coding	Pathogenic
1	27551494	G	GA	C27551496A	AHDC1	NM_001371928.1(AHDC1):c.621dup:p.Pro208fs	coding	Pathogenic
1	27551565	GC	G	C27551568G	AHDC1	NM_001029882.3(AHDC1):c.550del:p.Ala184fs	coding	Pathogenic
1	29018388	CGAATCAG	C	G29018389A	EPB41	NM_004437.4(EPB41):c.444_450del:p.Asn149fs	coding	Pathogenic
1	29200513	T	TA	C29200515A	MECR	NM_016011.5(MECR):c.830+2dup	noncoding	Pathogenic/Likely_pathogenic
1	29203230	TC	T	C29203234T	MECR	NC_000001.11:g.29203234del	coding	Pathogenic
1	29216611	GGATT	G	T29216615A	MECR	NM_016011.5(MECR):c.247_250del:p.Asn83fs	coding	Pathogenic
1	31429409	ACC	A	C31429413A	SERINC2	NM_178865.5(SERINC2):c.888_889del:p.His297fs	coding	Benign
1	32806522	TCCACCTGCTTTA	T	G32806529C	YARS1	NM_003680.3(YARS1):c.458_469del:p.Val153_Val156del	coding	Pathogenic
1	32810729	TC	AT	T32810729A	YARS1	NM_003680.3(YARS1):c.241_242delinsAT:p.Asp81Ile	coding	Pathogenic
1	33013377	CG	C	G33013378A	AK2	NM_001625.4(AK2):c.523del:p.Arg175fs	coding	Pathogenic
1	33014566	AG	A	G33014568A	AK2	NM_001625.4(AK2):c.453del:p.Tyr152fs	coding	Pathogenic
1	33024542	CA	C	A33024543G	AK2	NM_001625.4(AK2):c.118del:p.Cys40fs	coding	Pathogenic
1	34761404	CT	C	T34761407G	GJB4	NM_153212.3(GJB4):c.153del:p.Phe51fs	coding	Benign
1	34785182	CATT	C	A34785183G	GJB3	NM_024009.3(GJB3):c.421_423del:p.Ile141del	coding	Pathogenic
1	36091322	AG	A	G36091324T	ADPRS	NM_017825.3(ADPRS):c.292del:p.Val98fs	coding	Pathogenic
1	36091720	GCCTGC	G	T36091723G	ADPRS	NM_017825.3(ADPRS):c.414_418del:p.Ala139fs	coding	Pathogenic
1	36091723	TGCCCGGGCCCA	T	C36091725T	ADPRS	NM_017825.3(ADPRS):c.416_426del:p.Ala139fs	coding	Pathogenic
1	36098317	TG	AC	T36098317A	COL8A2	NM_005202.4(COL8A2):c.1363_1364delinsGT:p.Gln455Val	coding	Pathogenic
1	36469721	TG	T	G36469728C	CSF3R	NM_000760.4(CSF3R):c.1404del:p.Ser469fs	coding	Pathogenic
1	36471472	TC	T	C36471475G	CSF3R	NM_000760.4(CSF3R):c.1245del:p.Thr416fs	coding	Pathogenic
1	36471501	A	AC	T36471504C	CSF3R	NM_000760.4(CSF3R):c.1216dup:p.Val406fs	coding	Pathogenic
1	36472271	TCCAGTCGCTCCAGTGGCCAGGCAGGGGCC	T	C36472272A	CSF3R	NM_000760.4(CSF3R):c.935_963del:p.Arg311_Trp312insTer	coding	Pathogenic
1	36472271	TCCAGTCGCTCCAGTGG	T	T36472276G	CSF3R	NM_000760.4(CSF3R):c.948_963del:p.His317fs	coding	Pathogenic
1	36472560	TC	T	C36472561A	CSF3R	NM_000760.4(CSF3R):c.799del:p.Glu267fs	coding	Pathogenic
1	36475516	CCTGCCCCCGGGCTGAAGCT	C	C36475521T	CSF3R	NM_000760.4(CSF3R):c.203_221del:p.Glu68fs	coding	Pathogenic
1	39958673	AGTT	A	T39958676C	MFSD2A	NM_032793.5(MFSD2A):c.229-25_229-23del	coding	Pathogenic
1	40073531	A	ATGAT	A40073536T	PPT1	NM_000310.3(PPT1):c.*526_*529dup	noncoding	Benign
1	40074171	GC	G	C40074175A	PPT1	NM_000310.3(PPT1):c.810del:p.Gly270_Leu271insTer	coding	Pathogenic
1	40078655	T	TAC	C40078658A	PPT1	NM_000310.3(PPT1):c.629_630dup:p.Ile211fs	coding	Pathogenic
1	40080494	G	GA	G40080504A	PPT1	NM_000310.4(PPT1):c.537-16dup	noncoding	Benign
1	40089490	GC	G	C40089491A	PPT1	NM_000310.3(PPT1):c.455del:p.Cys152fs	coding	Pathogenic
1	40092060	TG	T	G40092063A	PPT1	NM_000310.4(PPT1):c.346del:p.Gln116fs	coding	Pathogenic
1	40092070	CCA	C	C40092071T	PPT1	NM_001142604.2(PPT1):c.125-2560_125-2559del	coding	Pathogenic
1	40092116	CTG	C	T40092117A	PPT1	NM_000310.4(PPT1):c.289_290del:p.Gln97fs	coding	Pathogenic
1	40092274	CCACTCAAGGGTGAAAGTATCACTGTATGATCTGCTGCTGAAAACACAAGGCAAAGCATTTTAACAGTATATGCTATGAAATCAGTCAGCAACCCTTCAAAGGAACAGCTGTGAAGCGCCTTACCTCCATCAGGGTCTTCCCAATCTCTAAAGATAAGACGTAAATTCCAGGTATTTTCTTCTCCACCATTTTTTTAATAGCACCCATGCTTAAGGGATTGCAACAGCTGTCTCCTAGCCAACAAAACACAATGATGGAAACTCATGAGTCCAAATATTGTTTATTGTTTAAAAACTCTGAGGCCTCAAACAGCATTATCAAGGATGTGAAAACAATGTATAGAATGGAAGAAAATATTTGCAAAACAGTTATCTGATAAGGGCTTAATATCCAGAATATACAAGGAATCTATAACTCACTTACAACTCAACAAAAAGATAACCTAATTTAAAAATGGGAAAAGAAATTAAACAGATATTTTTCCAAAGAAGATATACAAATGGCTAACCACTGGCATGTGAAATGCAAACCAAAACCACGATGAGATACCATTTCACACAGACTAGGATGTCTTTAATAATAATTTTTTAATAGAAAATAACAAGTATTGTCAACGATGTAGAAAAATGGGACCCCTTGGACATTGCTGGTGGGAATGTAATAAGCAGCCACTGTGAAAAACAGTTTGGTGGTTTCTCAAAAAGTTAAACATACGATTACTAAATGACTCAGCAATTCAACTCCTAGTTATACACCCCAAAGAAATAAAAACACACGTCCATGCAGAAACTTGCATATAGATGTTAACAGCAGCAGTGTTTGTAATAGTCAAAAGGGAGAAACAATCCAGCAGTCCATCAATGAATGAATGAATAAAATGTGGTATATTCACACAATGGAATATTACTGAGTTATAAAAAAGGAACAAAGTGCTGACACATGTTACAACTTGAATGAACCTCAGAAACATTATACTAAGTGAAAGAAGCCAGACTCAAAAAGCCACATAATGCATGATTCCTTTCATAGGATAAATAAAGAACAGGCAAATCCACTGAGATACAGAAAACTAAGCTGGAGATTATCAAGAAGTAGTAGGAGGGGGCAATAGGGAGTGATTGCTTAATGGCTATGTGTGTTTTTCTGGGGTGTTGAAAAAGAAGTGTTAGTTGCACAACATTGCAAATACACTAAATGCCACTGAATCGTACCATTTTAAATGGTTAACTTTACATGAATTTTTACCTCAATTTTAAAAAACAGAAGAAAGAACATTTTTTGCTTAGCTCCTGTTTATCAAGTAATAACAAGCTTCAAAAGTCCATACAGGAGCTGGGTGTCATGGCTCACGTCTGTAATCCCAGCAGTTTGGGAGGCCGAGGTGGGTGGATCACAAGGTCAGGAGCTCGAGACCAGCCTGGGCAACATGGTGAAACCCCATCTCTACTAAATATACAAAAATTAGCCGGGTGTGGTGGCACATGTCTGTAGTCCCGCTACTTGGGGGGCTGAGGCAGGAGAATCGCTTGAAACTGAAAGGTGGAGGTTTCAGTGAGCCAAGATCATGCCACTGCACTCCAGCCTGGGCAACAGAACAAGGCTCCATCTCAAAAAAAAAAAAAAAAAAAAATCCATATAGGCCAAGCATGGGCTCATACCTATCATCCCAGCGCTTTGGTAAGACGAGGCAGGAGGATTGCTTGAGGCCAAGAGTTCGAGACCAGTTTGGGCAACATAACGAGACCCTGTCTCAAAAAAACCAAAAAGCCCATATAGGATAATTAAGACACCAAATTTACAAATGAAAAATAAGCAGAGGTACACATTCCCTTCCCCTATCACAGGGGATATTTGGGGTGAACAGATGCAAAGTTTTCTCTTCAGGGCCAGGACTAGGGTGAGGCAAATTAAGCATCTAGGACAGCGGTCTTCAACCTTTTTGGCACCAGGGACCAGGTTTGTGGAAGACAATTTTTCAAAACTGTTCCACCTCAGATCATCAGGCATTTGCTAGATTCTCATAAGGAGCACCCAATCCAGATCCCTCACATGCGCAGTTCACAACAGCATTTGAGCTCTTTGAGAATCTAATGCCACTGCTGATCTGACAGGAGGTAGAGCTCATGGTGGTAAGGCTGCAGGCTCACTCACCTCCTGCTGTGTGGCTAGTTCCTAACAGGTCACAGACCCAGGGAGTTTGGGACCCCCGCTCTAGGGCACAAAATTTAAGGAGGCACTCATTCTCAGGTTTATGTAAGTGTTGACCCTGAATTTGAGAGTGAGTGCCTCCTTAAATTTGCACTTCAGGAGCCTCTTCATCTTGTCCTAGCCCCAGACTTGTTTCTTCTATTTCAGGGAACTAGAACTAGGAACAGGAAGCAAACTGGCTACTGAGTAGAAGTGGACTGAGATCATTTCCCATTTTGAACTTACTTATTCCATTTTCAACCTGCGAGAAAGCTTAAGCACCAATTTTAGAACAAGAAAAGGCTACTGCCTAGAGAATTGTCTATTCCTTTTATTTCTCTGAAAACAACGTTCTCCACACTGAGCTGTAATTGTAGGTTACTTAACTGCCTCTGCCTCCCCTGTAACTGACTGTGAGCTCTGGGAAAACACAAAGCTCCTACCCTGTGTCCTCTTTTGACCCCACTGTAGTAGCCCCAGGGCCTGTTGGAGAACCTTGCAAGTGTTTGTATTTGCTGACTCTAATTACTCTGAATATTTTTCTGTAACCCATCCCAATAAAGATCTCACTATCACGACTCTCCCAAAACTGCTTTTGTCAAGATTAATCATCTTTATATTGCTAAATCCAATAATCAGTTGTCAGCCTTTATCTTCCTTGACCCATTAACATTTGATACAGTTGATCATGACCTATCAACATTTGATGCAGTTGATCATGCCCTTCTTCCTGAAACATTTTCTTCACTTGGCTTCAAGGACACTGCGCTTTCCTGACCCCTCCACTTCACCGGCTATTTGGTTACAGCCTCCTTTGCTAGTTTCTCCTCATTTCCTCCACCTCCAAATGGAATGGAGTGCCTCAGGGCTTAGTCCTCTGTGTACGCTCATTTCCTAGGTGGTCTCACCTAGCCTTTAACTACTAGCTGTATGCCGAAGACTCCCTACTTAAATCTCCAACCCGTATCTCTGTCCTAGACTCCACACTCCAAATGCCTCTACAACATCTCCTGGGTGTCTCATGAGGATCTCAAGTTTAGTAAGCCCAAAAGCAGACTCTTGATCTTTCCCCCACCCTAAGTCAGCTTGTCCTACAGGCTTCCCCATCTTGGTAAAATGAAAACTTCACCCTTCCAATTGTTCAGGCCAAAACCTGTGGAGTCATCTTTGGCTCCTTTCTTTCTCTCTTATTCCAAGTCTGATCTGTTAGCAATCCACCTTCAAAATCTATCCAAACTTTGACCACTTCTCAACACCTCTACTGTTACTCTACAGTTCCAAGTCATCATCTCTTGTTTAAATTATTGCAATAGTTTCCTAACCTGTCTCCCTGTGACCATCCATGACGCCCTACGATCTATTCTTAATACAGCAACTAAAGTGATTCTTTAAAAATGTGTCAGATCATGTCACTCATCTGCTCAAAAAGTTCCCCATGA	C	A40092280T	PPT1	NM_000310.4(PPT1):c.124+1215_235-103del	noncoding	Pathogenic
1	40092456	TC	T	C40092458A	PPT1	NM_000310.3(PPT1):c.175del:p.Glu59fs	coding	Pathogenic
1	40092462	A	AT	A40092470T	PPT1	NM_000310.3(PPT1):c.169dup:p.Met57fs	coding	Pathogenic/Likely_pathogenic
1	40092787	G	GGCATGTGAAAA	T40092798A	PPT1	NM_000310.3(PPT1):c.125-281_125-280insTTTTCACATGC	noncoding	Benign
1	40097136	AC	A	C40097137G	PPT1	NM_000310.4(PPT1):c.102del:p.Leu35fs	coding	Pathogenic
1	40097232	AC	A	C40097233G	PPT1	NM_000310.4(PPT1):c.6del:p.Ser3fs	coding	Pathogenic
1	40258319	GA	G	A40258321G	ZMPSTE24	NM_005857.5(ZMPSTE24):c.50del:p.Lys17fs	coding	Pathogenic
1	40258324	G	GT	A40258326T	ZMPSTE24	NM_005857.5(ZMPSTE24):c.54dup:p.Ile19fs	coding	Pathogenic
1	40270082	CTA	C	A40270084T	ZMPSTE24	NM_005857.5(ZMPSTE24):c.584_585del:p.Tyr195fs	coding	Pathogenic
1	40270084	A	AT	A40270092T	ZMPSTE24	NM_005857.5(ZMPSTE24):c.591dup:p.Ile198fs	coding	Pathogenic
1	40281389	CA	C	A40281391G	ZMPSTE24	NM_005857.5(ZMPSTE24):c.818del:p.Lys273fs	coding	Pathogenic
1	40290846	CTTTCTAGATGAATTCTTTCCTGTGTTTTTTTT	C	T40290848A	ZMPSTE24	NM_005857.5(ZMPSTE24):c.1060-6_1085del	noncoding	Pathogenic
1	40290870	G	GT	A40290880T	ZMPSTE24	NM_005857.4(ZMPSTE24):c.1085dupT:p.Leu362Phefs	coding	Pathogenic
1	40292501	A	AT	G40292505T	ZMPSTE24	NM_005857.5(ZMPSTE24):c.1263dup:p.Ala422fs	coding	Pathogenic
1	40302811	TGGAGGGAG	T	G40302828A	COL9A2	NM_001852.4(COL9A2):c.1604-26CTCC[4]	noncoding	Benign
1	40302811	TGGAG	T	G40302832A	COL9A2	NM_001852.4(COL9A2):c.1604-26CTCC[5]	noncoding	Benign
1	40307477	TG	CA	T40307477C	COL9A2	NM_001852.4(COL9A2):c.976_977inv:p.Gln326Trp	coding	Benign
1	40309933	CTCACCTCG	C	T40309939C	COL9A2	NM_001852.4(COL9A2):c.843_846+4del	noncoding	Pathogenic
1	40311460	GC	G	C40311466T	COL9A2	NM_001852.4(COL9A2):c.519+39del	noncoding	Benign/Likely_benign
1	40784302	GC	G	C40784304A	KCNQ4	NM_004700.4(KCNQ4):c.211del:p.Gln71fs	coding	Pathogenic
1	40784303	CCAGCGCTCCTCGG	C	A40784305C	KCNQ4	NM_004700.4(KCNQ4):c.212_224del:p.Gln71fs	coding	Pathogenic
1	40784317	C	CCG	A40784323G	KCNQ4	NM_004700.4(KCNQ4):c.226_227GC[3]:p.His77fs	coding	Pathogenic
1	40784351	GGTCTACAAC	G	C40784354G	KCNQ4	NM_004700.4(KCNQ4):c.261_269del:p.Tyr88_Val90del	coding	Pathogenic
1	40818215	TC	T	C40818217G	KCNQ4	NM_004700.4(KCNQ4):c.459del:p.Ala154fs	coding	Pathogenic
1	40822312	AGGCTGCCT	A	T40822316G	KCNQ4	NM_004700.4(KCNQ4):c.1044_1051del:p.Ala349Profs	noncoding	Pathogenic
1	42456883	GCCTTCGGGCCCAGCC	G	C42456885T	PPCS	NM_024664.4(PPCS):c.320_334del:p.Pro107_Ala111del	coding	Pathogenic
1	42747780	AT	A	T42747783A	P3H1	NM_022356.4(P3H1):c.1856del:p.Asn619fs	coding	Pathogenic
1	42752644	CT	G	C42752644G	P3H1	NM_022356.3(P3H1):c.1365_1366delinsC:p.Glu455fs	coding	Pathogenic
1	42759261	AG	A	G42759264C	P3H1	NM_022356.3(P3H1):c.747del:p.Tyr250fs	coding	Pathogenic
1	42759358	TGAGTA	T	A42759363C	P3H1	NM_022356.3(P3H1):c.646_650del:p.Tyr216fs	coding	Pathogenic
1	42762369	CCA	C	C42762370G	P3H1	NM_001146289.1(P3H1):c.570_571del:p.Gly191fs	coding	Pathogenic
1	42766739	TG	T	G42766742T	P3H1	NM_022356.4(P3H1):c.232del:p.Gln78fs	coding	Pathogenic
1	42816502	ATTCT	A	C42816505A	SVBP	NM_199342.4(SVBP):c.39_42del:p.Lys13fs	coding	Pathogenic
1	42830984	TGA	T	G42830989T	ERMAP	NM_001017922.2(ERMAP):c.303_304GA[2]:p.Asp103fs	coding	Pathogenic
1	42927114	T	TGCCGGAA	G42927131C	SLC2A1	NM_006516.3(SLC2A1):c.1392_1398TTCCGGC[3]:p.Gln469fs	coding	Pathogenic
1	42927211	AGAT	A	T42927217A	SLC2A1	NM_006516.3(SLC2A1):c.1303_1305ATC[1]:p.Ile436del	coding	Pathogenic
1	42927695	GCT	TCA	G42927695T	SLC2A1	NM_006516.3(SLC2A1):c.1186_1188delinsTGA:p.Ser396Ter	coding	Pathogenic
1	42927720	CATGGG	C	A42927726G	SLC2A1	NM_006516.3(SLC2A1):c.1153_1157CCCAT[1]:p.Ile386fs	coding	Pathogenic
1	42927793	TC	T	C42927795A	SLC2A1	NM_006516.3(SLC2A1):c.1089del:p.Pro362_Trp363insTer	coding	Pathogenic
1	42927799	G	GT	A42927801T	SLC2A1	NM_006516.3(SLC2A1):c.1083dup:p.Pro362fs	coding	Pathogenic
1	42927799	GTAGCTGC	G	A42927801C	SLC2A1	NM_006516.4(SLC2A1):c.1077_1083del:p.Glu359fs	coding	Pathogenic
1	42928963	GCACAACCCGC	G	C42928966T	SLC2A1	NM_006516.3(SLC2A1):c.1033_1042del:p.Ala345fs	coding	Pathogenic
1	42928977	G	GC	A42928980C	SLC2A1	NM_006516.4(SLC2A1):c.1028dup:p.Met344fs	coding	Pathogenic
1	42928989	T	TA	T42928991A	SLC2A1	NM_006516.3(SLC2A1):c.1016dup:p.Gly340fs	coding	Pathogenic
1	42928999	AG	A	G42929002T	SLC2A1	NM_006516.3(SLC2A1):c.1006del:p.Leu336fs	coding	Pathogenic
1	42929024	CCA	C	C42929027A	SLC2A1	NM_006516.3(SLC2A1):c.978_979TG[1]:p.Val327fs	coding	Pathogenic
1	42929026	AC	A	C42929027A	SLC2A1	NM_006516.3(SLC2A1):c.979del:p.Val327fs	coding	Pathogenic
1	42929206	TCAC	T	A42929208G	SLC2A1	NM_006516.3(SLC2A1):c.972+1_972+3del	noncoding	Pathogenic
1	42929214	ACG	A	C42929215A	SLC2A1	NM_006516.3(SLC2A1):c.966_967del:p.Ser324fs	coding	Pathogenic
1	42929242	C	CG	A42929245G	SLC2A1	NM_006516.3(SLC2A1):c.939dup:p.Gly314fs	coding	Pathogenic
1	42929274	A	AC	G42929280C	SLC2A1	NM_006516.3(SLC2A1):c.907dup:p.Val303fs	coding	Pathogenic
1	42929274	AC	A	C42929279G	SLC2A1	NM_006516.3(SLC2A1):c.907del:p.Val303fs	coding	Pathogenic
1	42929306	AT	A	T42929307A	SLC2A1	NM_006516.3(SLC2A1):c.875del:p.Tyr292fs	coding	Pathogenic
1	42929604	CAGACAGCTGCTG	C	A42929605G	SLC2A1	NM_006516.3(SLC2A1):c.844_855del:p.Gln282_Ser285del	coding	Pathogenic
1	42929618	GACAGCTGCAGCACC	G	T42929624G	SLC2A1	NM_006516.3(SLC2A1):c.828_841del:p.Val277fs	coding	Pathogenic
1	42929720	TCTTC	T	C42929725A	SLC2A1	NM_006516.4(SLC2A1):c.732_735GAAG[1]:p.Glu246fs	coding	Pathogenic
1	42929727	TC	T	C42929728A	SLC2A1	NM_006516.3(SLC2A1):c.732del:p.Met244fs	coding	Pathogenic
1	42929763	C	CAT	G42929764A	SLC2A1	NM_006516.4(SLC2A1):c.696_697insAT:p.Gly233fs	coding	Pathogenic
1	42929927	CG	C	G42929931C	SLC2A1	NM_006516.3(SLC2A1):c.624del:p.Glu209fs	coding	Pathogenic
1	42929931	G	GA	C42929932A	SLC2A1	NM_006516.4(SLC2A1):c.620_621insT:p.Glu209fs	coding	Pathogenic
1	42929976	GAT	G	A42929977G	SLC2A1	NM_006516.4(SLC2A1):c.574_575del:p.Ile192fs	coding	Pathogenic
1	42930012	CA	C	A42930013T	SLC2A1	NM_006516.3(SLC2A1):c.539del:p.Met180fs	coding	Pathogenic
1	42930627	T	TG	C42930631G	SLC2A1	NM_006516.3(SLC2A1):c.514dup:p.Gln172fs	coding	Pathogenic
1	42930634	TGAG	T	G42930637T	SLC2A1	NM_006516.3(SLC2A1):c.505_507del:p.Leu169del	coding	Pathogenic
1	42930671	G	GC	A42930675C	SLC2A1	NM_006516.3(SLC2A1):c.470dup:p.Thr158fs	coding	Pathogenic
1	42930721	GC	G	C42930722A	SLC2A1	NM_006516.3(SLC2A1):c.420del:p.Met142fs	coding	Pathogenic
1	42930730	CTG	C	T42930733G	SLC2A1	NM_006516.3(SLC2A1):c.408_409CA[1]:p.Thr137fs	coding	Pathogenic
1	42930767	GC	G	C42930770A	SLC2A1	NM_006516.4(SLC2A1):c.374del:p.Gly125fs	coding	Pathogenic
1	42930826	AC	A	C42930827A	SLC2A1	NM_006516.3(SLC2A1):c.315del:p.Ser106fs	coding	Pathogenic
1	42930836	CA	C	A42930837G	SLC2A1	NM_006516.3(SLC2A1):c.305del:p.Leu102fs	coding	Pathogenic
1	42930842	G	GT	C42930845T	SLC2A1	NM_006516.3(SLC2A1):c.299dup:p.Asn100fs	coding	Pathogenic
1	42930848	CA	C	A42930849T	SLC2A1	NM_006516.4(SLC2A1):c.293del:p.Met98fs	coding	Pathogenic
1	42930858	GA	AT	G42930858A	SLC2A1	NM_006516.3(SLC2A1):c.283_284delinsAT:p.Ser95Ile	coding	Pathogenic
1	42931046	CG	C	G42931048C	SLC2A1	NM_006516.3(SLC2A1):c.274del:p.Arg92fs	coding	Pathogenic
1	42931063	GA	G	A42931067G	SLC2A1	NM_006516.4(SLC2A1):c.257del:p.Phe86fs	coding	Pathogenic
1	42931081	GGAGCCAATCAT	G	A42931083C	SLC2A1	NM_006516.4(SLC2A1):c.229_239del:p.Met77fs	coding	Pathogenic
1	42931093	G	GC	A42931099C	SLC2A1	NM_006516.3(SLC2A1):c.227dup:p.Met77fs	coding	Pathogenic
1	42931105	AAAGATGGCC	G	A42931105G	SLC2A1	NM_006516.3(SLC2A1):c.207_216delinsC:p.Ala70_Phe72del	coding	Pathogenic
1	42931136	GTG	TT	G42931136T	SLC2A1	NM_006516.4(SLC2A1):c.183_185delinsAA:p.Thr63fs	coding	Pathogenic
1	42931142	GT	G	T42931143G	SLC2A1	NM_006516.4(SLC2A1):c.178del:p.Thr60fs	coding	Pathogenic
1	42931159	C	CT	C42931161T	SLC2A1	NM_006516.3(SLC2A1):c.161dup:p.Ser55fs	coding	Pathogenic
1	42931205	A	ACC	T42931208C	SLC2A1	NM_006516.3(SLC2A1):c.115-1_115dup	coding	Pathogenic
1	42931208	TG	T	G42931209C	SLC2A1	NM_006516.3(SLC2A1):c.115-3del	noncoding	Pathogenic
1	42943282	CT	C	T42943283G	SLC2A1	NM_006516.3(SLC2A1):c.57del:p.Val20fs	coding	Pathogenic
1	42943311	CCCGTCAGCTT	C	C42943313T	SLC2A1	NM_006516.2(SLC2A1):c.19_28delAAGCTGACGG:p.Lys7Valfs	coding	Pathogenic
1	42959040	CT	C	T42959041A	SLC2A1	NM_006516.2(SLC2A1):c.-390delA	noncoding	Benign
1	43156263	ACT	A	C43156266G	FAM183A	NM_001101376.3(FAM183A):c.356_357CT[1]:p.Leu120fs	coding	Benign
1	43338563	CCT	C	C43338564G	MPL	NM_005373.2(MPL):c.235_236del:p.Leu79fs	coding	Pathogenic
1	43338704	CT	C	T43338707G	MPL	NM_005373.2(MPL):c.378del:p.Phe126fs	coding	Pathogenic
1	43339291	AT	A	T43339292C	MPL	NM_005373.2(MPL):c.413del:p.Ile138fs	coding	Pathogenic/Likely_pathogenic
1	43339333	AT	A	T43339334C	MPL	NM_005373.3(MPL):c.455del:p.Ile152fs	coding	Pathogenic
1	43340063	TC	T	C43340066T	MPL	NM_005373.3(MPL):c.793del:p.Leu265fs	coding	Pathogenic
1	43340501	GC	G	C43340505A	MPL	NM_005373.2(MPL):c.972del:p.Arg325fs	coding	Pathogenic
1	43349267	G	GATCT	C43349272A	MPL	NM_005373.3(MPL):c.1474_1477dup:p.Ser493fs	coding	Pathogenic
1	43349292	CT	C	T43349293A	MPL	NM_005373.3(MPL):c.1499del:p.Leu500fs	coding	Pathogenic
1	43349337	TG	AA	T43349337A	MPL	NM_005373.2(MPL):c.1543_1544delinsAA:p.Trp515Lys	coding	Pathogenic
1	43416601	AC	A	C43416603A	SZT2	NM_001365999.1(SZT2):c.841del:p.Gln281fs	coding	Pathogenic
1	43424392	CCT	C	T43424396A	SZT2	NM_001365999.1(SZT2):c.2435_2436del:p.Leu812fs	coding	Pathogenic
1	43426728	A	AT	C43426729T	SZT2	NM_001365999.1(SZT2):c.3228_3229insT:p.Leu1077fs	coding	Pathogenic
1	43431343	G	GCC	A43431349C	SZT2	NM_001365999.1(SZT2):c.4999_5000dup:p.Leu1668fs	coding	Pathogenic
1	43437462	ATGTT	A	G43437468A	SZT2	NM_001365999.1(SZT2):c.6250_6253del:p.Val2084fs	coding	Pathogenic
1	43439743	GC	G	C43439746G	SZT2	NM_001365999.1(SZT2):c.7019del:p.Pro2340fs	coding	Pathogenic
1	43443264	CA	C	A43443265G	SZT2	NM_001365999.1(SZT2):c.8497del:p.Ser2833fs	coding	Pathogenic
1	43443609	CCT	C	C43443610G	SZT2	NM_001365999.1(SZT2):c.8639_8640del:p.Pro2880fs	coding	Pathogenic
1	43443678	GC	G	C43443681G	SZT2	NM_001365999.1(SZT2):c.8710del:p.Arg2904fs	coding	Pathogenic
1	43443776	GC	G	C43443782T	SZT2	NM_001365999.1(SZT2):c.8811del:p.Ser2938fs	coding	Pathogenic
1	43447911	TTGTC	T	T43447916A	SZT2	NM_001365999.1(SZT2):c.9504_9507TGTC[1]:p.Cys3170fs	coding	Pathogenic
1	43448229	T	TA	T43448231A	SZT2	NM_001365999.1(SZT2):c.9715dup:p.Ile3239fs	coding	Pathogenic
1	43597774	ATG	A	T43597781A	PTPRF	NM_002840.5(PTPRF):c.1841_1842TG[3]:p.Val616fs	coding	Pathogenic
1	44002862	AGACTT	A	T44002866C	SLC6A9	NM_001024845.3(SLC6A9):c.709_713del:p.Lys237fs	coding	Pathogenic
1	45012270	AAGCGAATGGG	A	A45012271T	UROD	NM_000374.5(UROD):c.6_15del:p.Glu2fs	coding	Pathogenic
1	45013204	C	CTGACT	C45013210T	UROD	NM_000374.5(UROD):c.203_207dup:p.Leu70Ter	coding	Pathogenic
1	45327490	T	TTGCC	G45327491T	HPDL	NM_032756.3:c.342_343insTGCC	coding	Pathogenic
1	45329405	GC	CT	G45329405C	MUTYH	NM_012222.2(MUTYH):c.1541_1542delinsAG:p.Cys514Ter	coding	Pathogenic
1	45330517	ATACAGGT	TGGGCTGTTGG	A45330517T	MUTYH	NM_012222.2(MUTYH):c.1501_1508delinsCCAACAGCCCA:p.Thr501_Met503delinsProThrAlaGln	coding	Pathogenic
1	45331196	TG	T	G45331198A	MUTYH	NM_012222.2(MUTYH):c.1452del:p.Thr485fs	coding	Pathogenic
1	45331210	G	GT	G45331212T	MUTYH	NM_012222.2(MUTYH):c.1438dup:p.Thr480fs	coding	Pathogenic
1	45331218	TTCC	T	C45331223G	MUTYH	NM_001048173.1(MUTYH):c.1350_1352GGA[1]:p.Glu452del	coding	Pathogenic
1	45331254	GGT	G	T45331256G	MUTYH	NM_001128425.1(MUTYH):c.1402_1403del:p.Thr468fs	coding	Pathogenic
1	45331286	GC	G	C45331289A	MUTYH	NM_001048174.2(MUTYH):c.1287del:p.Leu430fs	coding	Pathogenic
1	45331301	AT	A	T45331302G	MUTYH	NM_012222.2(MUTYH):c.1347del:p.Tyr450fs	coding	Pathogenic
1	45331421	TC	T	C45331425A	MUTYH	NM_012222.2(MUTYH):c.1312del:p.Glu438fs	coding	Pathogenic/Likely_pathogenic
1	45331445	GC	G	C45331446T	MUTYH	NM_012222.2(MUTYH):c.1288del:p.Ala430fs	coding	Pathogenic
1	45331453	GGGCCCAGCCC	G	G45331454A	MUTYH	NM_012222.2(MUTYH):c.1271_1280del:p.Trp424fs	coding	Pathogenic
1	45331475	TC	T	C45331477T	MUTYH	NM_001048174.2(MUTYH):c.1183del:p.Glu395fs	coding	Pathogenic
1	45331514	T	TCC	A45331518C	MUTYH	NM_012222.2(MUTYH):c.1218_1219dup:p.Glu407fs	coding	Pathogenic/Likely_pathogenic
1	45331524	CG	C	G45331526A	MUTYH	NM_001048174.2(MUTYH):c.1134del:p.Ser378_Val379insTer	coding	Pathogenic
1	45331543	TCCTGCCAGCAGACCTGAGAGGGAGGGCAGCCAGGCAGGGGTCAGG	T	G45331547C	MUTYH	NM_001128425.1(MUTYH):c.1187-32_1199del	coding	Pathogenic/Likely_pathogenic
1	45331727	TGGCAGAGCTCTCCTCCCTG	T	C45331730G	MUTYH	NM_012222.2(MUTYH):c.1092_1110del:p.Arg365fs	coding	Pathogenic
1	45331745	TG	T	G45331751C	MUTYH	NM_001128425.1(MUTYH):c.1101del:p.Arg368fs	coding	Pathogenic
1	45331745	T	TG	C45331752G	MUTYH	NM_012222.2(MUTYH):c.1092dup:p.Arg365fs	coding	Pathogenic/Likely_pathogenic
1	45331768	CT	C	T45331769G	MUTYH	NM_001128425.1(MUTYH):c.1078del:p.Arg360fs	coding	Pathogenic/Likely_pathogenic
1	45331800	CCAGGGCTCCGAGGGAGGCAGGCA	C	G45331805T	MUTYH	NM_012222.2(MUTYH):c.1015_1037del:p.Cys339fs	coding	Pathogenic
1	45332056	TC	T	C45332059T	MUTYH	NM_012222.2(MUTYH):c.954del:p.Ser319fs	coding	Pathogenic
1	45332239	GC	G	C45332243T	MUTYH	NM_001128425.1(MUTYH):c.859del:p.Ala287fs	coding	Pathogenic/Likely_pathogenic
1	45332290	A	CT	A45332290C	MUTYH	NM_012222.2(MUTYH):c.800delinsAG:p.Val267fs	coding	Pathogenic
1	45332458	GTGCTA	AGCAGCTG	G45332458A	MUTYH	NM_012222.2(MUTYH):c.707_712delinsCAGCTGCT:p.Val236fs	coding	Pathogenic
1	45332596	ATGGCCCCAGCTGTGTAGCGCCCCACGCCAGGCAGGAGCTGCTGCAGGGTCTCTGCTGTACGTGGCATGTGGCCCCCTAGCTCCTCTACCACCTGATTGGAGTGCAAGACTCAAGATTATAAGACACCCAAGACTCCTGGGTTCCTACCCTCCTGCCATCCCCTTACCTTCCGAGCTCCCTCCTGCAGCCGCCGGCCACGAGAATAGTAGCCCAGGCCAGCCCAGAGTTGATTCACCTCCTGTGGGTAGGATCAGAGGTCAAAGAGATCACCCGTCAGTCCCTCTATTGTTCCTATTTCCCCTACCCTAGGGTGGCTCTCACCTCCAGGGAAGCACTGGCCAGGTCCTGCAGTGTAGGCCACTTCTATAGCCACAGGCAGGCAGAAAGAGACAAGGTCAAGGGTGAAGGTGGTAGAGGAAGCCTTCTCTACACCCACCCCAAAGTAGAGGCTCTCATCTGGGGTCTGACCCATGACCCTTCCCTTCCTCCCCTGGAGTCACCTGCATCCATCCGGTATAGTAGTTGATCACAGTGGCAACCTGGGTCTGCTGCAGCATGACCTCTGAGACCCACACTGGGGGAAAGGGGTTGGCATGAGGACACTGCTGACCTGCCCCTACCTGGCCCACAGCCCCCAGACCCAAGGGCCTCGAGGCAAAGTGGCCCTGCTCTCAGGAGATGTACTGACCAGCATATGCCCGCCTGTCCAGGTCCATCTCATCTTCTGCCTGTCAATGCAACCCCAGATGAGGAGTTAGGGTGGAGGGGGCTGGGTGCCTGCCTCCCACCCACTGTCCCTGCTCCTCGCCTGCCTACCCGTCTTCTCCATGGTAGGTCCCGTTTCTCTTGGTCGTACCAGCTTAGCAGGCTCCCTCGGAAGGCTGTGACTTCAGCTACGTCTCTGAATAGATGGTATGAGGAGACAGAGGCCTGCAATACCACCTCTTCCGGCTGCCTGGCCAGGCCTGCTGGGGCCCCAGGACACTCAGCAATCATCCCTGCACAGGCTGTGCATCAGGGTCTTGGGACACAGCAGCCTGTGGCAGTATGCTCCCACTTAGGGCTTCCCCCAACTAACCCCCTTAAGCTTTGGAGCTGGAGTCAGACCAGAGTTATGTAATTGTGTGTAGCTGTGGCTAAGTTTCTGGCCTTAATTTTCTCAGGGTGGTACTACTGGCTTGTCTCTGAGCCATAATGAAAACCTAATAGTTTTAGCCAGCTAGAATGTATACTGGTGCAGGACCTTCCTATTCACAAAACACTTTCAGGCTCATAAACTCATTTGGTCCCATGAAAGCCACATGAGGGAGGAAATGCTGAACTACTGCTCCATTTTACTGGTAAGAAAGCAGCCATTCAGAGCAATTGTCCCAATGTCACACAGCAATACAGTCAGAATTACACCCTCAGTGAGTCTCTTTTGTTTTGAGACAAGAGTCTGGCTCTGTTGCCCAGACTGAAATGCAGTTGCATTATCTTGACTCAGTGCAACTTCTGCCTTCCAGGCTCAAGCGATCCTGTCACCTCAGCTTCCCGAGTAGCTGGGACTACAGACGCTCACCACCACGCGAGCATAGAGAGGGGATTTCGCCATGTTACCCAAGCTGGTCTCAAACTCCTGGGCTCAAGGGATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCGCACCTGGCCCTTAGTAAGTCTCTTAATGTCTTGATACGTATCACAATCCCTTCCCAGCCTGAATCTGCCTTTCATGGCCAATGAGCCTTGGGCCACAACCTAGTTCCTTACCATCACAGGCAGAAGGCTTGGCCTGACTGTTGTTCTTAGCATGCTTCTGCCTCCCTTCCTGGCTGGCTGCCTGCTTCCTGTGACCACTTCCCACGGCTGCTCGTGGCTTCCTCATGATGGCCTGAAACAAAAAGACCCAGCCAAAGCAGTCAGTCACAATGAGGCCAAATTTTGAGGCCTTCCAAGGGTGATAGCTATCTCCCTCTCATCCACCATTCACATGGGGTCCAGCTTCTCTCAAGCACTCTCAAGATGCTCACGGGTTTACTCTTGGCTGGCTGCAGCACTGAGATACAACTAGTATAGCTGAGCAAGTGGCCTCAAGGGGGCCGGCGTTACAGCCCTGGAGACATGCAAAGACTGTGAGGCCAGGGCTGGGATGGGTCAAGGATGAAAGCCTCCTGTTTGGGAGCATTTGTGTATCTCTGATGCTTACTGTGACTGTGTGTGTGGATAGGGGTTGTTTAGGTGTGTCTGGGAGAATGGGGGTAGGCGGTTTCTCTGCCTCTTAGAGATGTAGCATGGTTACACTGAAACAGCCTGTAGTAGTCATTAAGTCCAAAACCTTCATTTTATCCTAGAAGAAACCAAGGATCAGAGGGACAAAAGATCTGTCTGAGAACAGATGGCAAATCAGTGGGAGAACAGAGATTAGCTATTTTTATTCCTAATCTAGTAAACCATAGGTGGCTGACCATCAACAATGAGAAAATGTGCCTGGTTGATTTTCACTGCTCCCTAACTGTTATAATGGCCGCCTTTTCTCTAACAGCTAAAATTAGTTGATATTTTGTGAGTGCCTACTCTATGTCAGACCCCATGAAGAGCTTTACCGGATCTCTCAATCTCCTGGTGACTCTATGAGGTATGTACTAGTATCACCTCCACCTTAGTTATAAGGAAATTGAGGTTTATGGAGATTAAGCGACTTGTTCTTTCAAATCCACGACCAGCATTCTTATACTGTGATAAAATGCAGTCCCTGCTAAGCCTCTGTATCAAACTCTCCCCCCAAACCTTTGACTTTACCACCTCATTTTCATCAAAAGAGCTTGCCTCCTCCTTCAGAAAAAAAAAAACCAACTTCAAATCTACCTCCATTTGCACTGTCTTACCCTCCTCCTCTTCAGGGTCCTGCTCCTCCAATCCCGTCTAACTGTTGGAACTCAGAAACTAATACCCCAGGCCAGGCACGGTGGCTCATGCCTGTAATCCCAACACTGCGGGAGGCTAAGGCAGGCAGATCACTTGAGGCCAGGAGTTCGAGACCAGCCTGGCCAACATGGCGAAACCCCATCTCTACTAAAAATCCAAAAAAATTAGCCAGACGTGCTCGCTTGAACCCAGGAGGCAGAGCTTGCAGTGAGCTGAGATCATGCCACTGCACAGCCTGGGCAACAAAGACAGAGCAAGACTCTGTCTCAAAAAAAAAGAAAAG	A	T45332597A	MUTYH	NM_001128425.1(MUTYH):c.37-1317_667del	coding	Pathogenic
1	45332603	CAGCTGTGTAGCGCCCCACGCCAGGCAGG	C	T45332609C	MUTYH	NM_012222.2(MUTYH):c.624_651del:p.Leu209fs	coding	Pathogenic
1	45332803	TAGCCCAGGCC	T	G45332811A	MUTYH	NM_001128425.1(MUTYH):c.526_535del:p.Gly176fs	coding	Pathogenic/Likely_pathogenic
1	45332830	AC	A	C45332832T	MUTYH	NM_001128425.1(MUTYH):c.508del:p.Glu169_Val170insTer	coding	Pathogenic/Likely_pathogenic
1	45332886	TCCTATTTCCCCTA	T	T45332889C	MUTYH	NM_001128425.1(MUTYH):c.504+19_504+31del	noncoding	Pathogenic/Likely_pathogenic
1	45332949	GTA	TT	G45332949T	MUTYH	NM_001048174.2(MUTYH):c.387_389delinsAA:p.Thr130fs	coding	Pathogenic
1	45333100	C	CATCCAT	C45333107A	MUTYH	NM_001128425.1(MUTYH):c.453_458dup:p.Met153_Gln154insIleTrp	coding	Pathogenic/Likely_pathogenic
1	45333137	TG	T	G45333140T	MUTYH	NM_001350650.1(MUTYH):c.33+147del	coding	Pathogenic
1	45333152	A	ATGACCTCTGAGACC	C45333167T	MUTYH	NM_001350650.1(MUTYH):c.33+119_33+132dup	coding	Pathogenic
1	45333164	AC	A	C45333167A	MUTYH	NM_001350650.1(MUTYH):c.33+120del	coding	Pathogenic
1	45333427	G	GT	A45333429T	MUTYH	NM_001293192.1(MUTYH):c.-28dup	coding	Pathogenic
1	45333466	TC	T	C45333469T	MUTYH	NM_001048174.2(MUTYH):c.210del:p.Ser71fs	coding	Pathogenic
1	45333484	C	CT	C45333487T	MUTYH	NM_001048174.2(MUTYH):c.192dup:p.Val65fs	coding	Pathogenic
1	45333560	GC	G	C45333562T	MUTYH	NM_001128425.1(MUTYH):c.200del:p.Gly67fs	coding	Pathogenic/Likely_pathogenic
1	45334412	CCTGA	C	A45334416T	MUTYH	NM_001048174.2(MUTYH):c.90_93del:p.Ser30fs	coding	Pathogenic
1	45334445	CT	C	T45334447C	MUTYH	NM_001293192.1(MUTYH):c.-153del	coding	Pathogenic
1	45334448	C	CCTGG	C45334460G	MUTYH	NM_001048174.2(MUTYH):c.54_57dup:p.Glu20fs	coding	Pathogenic
1	45334456	GC	G	C45334457T	MUTYH	NM_001293192.1(MUTYH):c.-164del	coding	Pathogenic
1	45334464	CTTCCTGTGACCACTTCCCACGGCTGCTCGTGGCTTCCTCATGATGGCCTGAAACAAAAAGACCCAGCCAAAGCAGTCAGTCACAATGAGGCCAAATTTTGAGGCCTTCCAAGGGTGATAGCTATCTCCCTCTCATCCACCAT	G	C45334464G	MUTYH	NM_001128425.1(MUTYH):c.37-95_84delinsC	coding	Pathogenic
1	45340247	G	GGTGTCAT	G45340256T	MUTYH	NM_025077.4(TOE1):c.-4_3dup:p.Ala2fs	coding	Pathogenic
1	45343106	CCA	C	C45343109G	TOE1	NM_025077.4(TOE1):c.938_939CA[1]:p.Gln314fs	coding	Pathogenic
1	45507542	G	GT	A45507545T	MMACHC	NM_015506.3(MMACHC):c.270dup:p.Arg91Ter	coding	Pathogenic
1	45507763	A	AT	A45507765T	MMACHC	NM_015506.3(MMACHC):c.276+214dup	noncoding	Benign
1	45508219	C	CA	G45508221A	MMACHC	NM_015506.3(MMACHC):c.285dup:p.Glu96fs	coding	Pathogenic/Likely_pathogenic
1	45508260	CCCAA	C	A45508263G	MMACHC	NM_015506.3(MMACHC):c.328_331del:p.Asn110fs	coding	Pathogenic
1	45508284	GC	G	C45508287A	MMACHC	NM_015506.3(MMACHC):c.352del:p.Gln118fs	coding	Pathogenic
1	45508296	G	GC	A45508300C	MMACHC	NM_015506.3(MMACHC):c.364dup:p.His122fs	coding	Pathogenic
1	45508316	TTAC	T	T45508323C	MMACHC	NM_015506.3(MMACHC):c.382_384TAC[2]:p.Tyr130del	coding	Pathogenic/Likely_pathogenic
1	45508332	CAA	C	A45508333G	MMACHC	NM_015506.3(MMACHC):c.398_399del:p.Gln133fs	coding	Pathogenic
1	45508805	GGT	G	T45508811C	MMACHC	NM_015506.3(MMACHC):c.441_442TG[2]:p.Cys149fs	coding	Pathogenic
1	45508862	C	CT	G45508864T	MMACHC	NM_015506.3(MMACHC):c.497dup:p.Pro167fs	coding	Pathogenic/Likely_pathogenic
1	45508864	GC	G	C45508866A	MMACHC	NM_015506.3(MMACHC):c.500del:p.Pro167fs	coding	Pathogenic
1	45508869	GGATAGAGGTGCCA	G	A45508873C	MMACHC	NM_015506.3(MMACHC):c.507_519del:p.Glu170fs	coding	Pathogenic/Likely_pathogenic
1	45508909	CTG	C	G45508913A	MMACHC	NM_015506.3(MMACHC):c.545_546GT[1]:p.Val183fs	coding	Pathogenic
1	45508929	AC	A	C45508931G	MMACHC	NM_015506.3(MMACHC):c.565del:p.Arg189fs	coding	Pathogenic/Likely_pathogenic
1	45508932	G	GT	A45508934T	MMACHC	NM_015506.3(MMACHC):c.567dup:p.Ile190fs	coding	Pathogenic
1	45508967	CGT	C	T45508969A	MMACHC	NM_015506.3(MMACHC):c.603_604del:p.Asp202fs	coding	Pathogenic
1	45508991	G	GT	G45508993T	MMACHC	NM_015506.3(MMACHC):c.626dup:p.Thr210fs	coding	Pathogenic
1	45509021	CAGA	C	A45509024G	MMACHC	NM_015506.3(MMACHC):c.658_660del:p.Lys220del	coding	Pathogenic
1	45510591	C	CT	G45510592T	MMACHC	NM_015506.3(MMACHC):c.*1376_*1377insT	noncoding	Benign
1	46189520	CA	C	A46189521G	POMGNT1	NM_017739.3(POMGNT1):c.1832del:p.Leu611fs	coding	Pathogenic
1	46189919	TG	T	G46189920T	POMGNT1	NM_017739.3(POMGNT1):c.1719del:p.His573fs	coding	Pathogenic/Likely_pathogenic
1	46190767	CT	C	T46190769C	POMGNT1	NM_017739.4(POMGNT1):c.1556del:p.Lys519fs	coding	Pathogenic
1	46192366	ACCCAG	A	C46192377G	POMGNT1	NM_001290129.1(POMGNT1):c.1274_1278CTGGG[2]:p.Trp429fs	coding	Pathogenic
1	46192385	TG	T	G46192387T	POMGNT1	NM_017739.3(POMGNT1):c.1335del:p.Met446fs	coding	Pathogenic
1	46193309	GAC	G	A46193312G	POMGNT1	NM_017739.4(POMGNT1):c.1104_1105del:p.Gln370fs	coding	Pathogenic/Likely_pathogenic
1	46193587	CTG	C	G46193589T	POMGNT1	NM_017739.3(POMGNT1):c.1001_1002del:p.Thr334fs	coding	Pathogenic
1	46195867	T	TG	C46195870G	POMGNT1	NM_017739.3(POMGNT1):c.477dup:p.Met160fs	coding	Pathogenic
1	46197729	G	GT	G46197733T	POMGNT1	NM_017739.3(POMGNT1):c.92dup:p.Asn31fs	coding	Pathogenic
1	46197785	AG	A	G46197788C	POMGNT1	NM_017739.4(POMGNT1):c.36del:p.Phe13fs	coding	Pathogenic
1	46197811	CA	C	A46197812G	POMGNT1	NM_017739.3(POMGNT1):c.10del:p.Trp4fs	coding	Pathogenic
1	46815074	GAT	G	A46815075G	CYP4B1	NM_001099772.2(CYP4B1):c.884_885del:p.Asp295fs	coding	Benign
1	47250368	TAA	T	A47250371G	STIL	NM_001048166.1(STIL):c.*766_*767del	noncoding	Benign
1	47251344	AC	A	C47251345T	STIL	NM_001048166.1(STIL):c.3658del:p.Leu1219_Val1220insTer	coding	Pathogenic
1	47287591	C	CT	G47287593T	STIL	NM_001048166.1(STIL):c.1092dup:p.Glu365fs	coding	Pathogenic
1	47295846	T	TA	T47295848A	STIL	NM_001048166.1(STIL):c.703dup:p.Tyr235fs	coding	Pathogenic
1	47417253	C	CG	C47417258G	FOXE3	NM_012186.3(FOXE3):c.942dup:p.Leu315fs	coding	Pathogenic
1	52383433	AC	T	A52383433T	ORC1	NM_004153.4(ORC1):c.1999_2000delinsA:p.Val667fs	coding	Pathogenic
1	52687984	AC	A	C52687986A	COA7	NM_023077.3(COA7):c.431del:p.Gly144fs	coding	Pathogenic
1	52941734	CA	C	A52941749T	SCP2	NM_002979.5(SCP2):c.70-47del	noncoding	Benign
1	52974790	C	CA	T52974796A	SCP2	NM_002979.5(SCP2):c.550dup:p.Ile184fs	coding	Pathogenic
1	53197040	CA	C	A53197041G	CPT2	NM_000098.3(CPT2):c.98del:p.Gln33fs	coding	Pathogenic
1	53197050	A	AGC	A53197055G	CPT2	NM_000098.3(CPT2):c.108_109GC[3]:p.Ser38fs	coding	Pathogenic/Likely_pathogenic
1	53200769	AG	A	G53200770A	CPT2	NM_000098.3(CPT2):c.204del:p.Lys69fs	coding	Pathogenic
1	53202342	AAG	A	A53202345T	CPT2	NM_000098.3(CPT2):c.254_255AG[1]:p.Ser86fs	coding	Pathogenic
1	53210258	TG	T	G53210259C	CPT2	NM_000098.3(CPT2):c.585del:p.Pro196fs	coding	Pathogenic
1	53210335	TTCAAC	T	A53210343G	CPT2	NM_000098.3(CPT2):c.664_668AACTC[1]:p.Thr224fs	coding	Pathogenic
1	53210396	GAC	G	A53210399C	CPT2	NM_000098.3(CPT2):c.723_724AC[1]:p.His242fs	coding	Pathogenic
1	53210506	TCAGA	T	A53210510C	CPT2	NM_000098.3(CPT2):c.836_839del:p.Asp279fs	coding	Pathogenic
1	53210521	GC	G	C53210526G	CPT2	NM_000098.3(CPT2):c.852del:p.Glu285fs	coding	Pathogenic
1	53210661	C	CT	C53210664T	CPT2	NM_000098.3(CPT2):c.989dup:p.Ile332fs	coding	Pathogenic/Likely_pathogenic
1	53210911	CAG	C	G53210913A	CPT2	NM_000098.3(CPT2):c.1239_1240del:p.Lys414fs	coding	Pathogenic
1	53210916	ACT	A	T53210918A	CPT2	NM_000098.3(CPT2):c.1244_1245del:p.Leu415fs	coding	Pathogenic
1	53210997	C	CA	C53210999A	CPT2	NM_000098.3(CPT2):c.1324dup:p.Thr442fs	coding	Pathogenic
1	53211019	C	TA	C53211019T	CPT2	NM_000098.3(CPT2):c.1345delinsTA:p.Gln449Ter	coding	Pathogenic/Likely_pathogenic
1	53211117	GACAGTGGCCACCTACGAGTCCTGTAGCACTGCCGCATTCAAGCACGGCCGCACTGAGACCATCCGCCCGGCCTCCGTCTATACAAAGAGGTGCTCTGAGGCCTTTGTCAGGGAGCCCTCCAGGCACAGTGCTGGTGAGCTTCAGCAGATGATGGTTGAGTGCTCCAAGTACCATGGCCAGCTGACCAAAGAAGCAGCAATGGGTGAGGCAGGGGTGGGGAGCATGCCCTTGGGTCTTGTCCTCAGTGCTTGGGTAAGCAAGCCTAAATCATTCTACTCCAAATCTGATTTCTACCCGTTCACTAGGTTTAATCCATCGCCAACTCCCCAAATTTTTCTTTTCTACCCTAGCAGTCTGAACAGCCACACTAGCCACTAGGGATCAGAATGTTCTTGCCTCCTAAGCAGGGGTGGGGAAATGCATGTGTCTTTGTCCTCATTTAAGGTCACTTTCAGCTGTGACGCATTAATTCTTTTTTCTTTCTTTTTTTTTTTTTTTTTTGGAGACAAGAGTTTCCCTCCGTCCAGGCTGGAGTGCAATGGCGTGATCTCGGCTCACTGCAACCT	G	A53211118C	CPT2	NM_000098.3(CPT2):c.1444_1645+364del	coding	Pathogenic
1	53211240	GCA	G	C53211243G	CPT2	NM_000098.3(CPT2):c.1567_1568CA[1]:p.His523fs	coding	Pathogenic/Likely_pathogenic
1	53211280	T	TC	A53211283C	CPT2	NM_000098.3(CPT2):c.1608dup:p.Lys537fs	coding	Pathogenic/Likely_pathogenic
1	53213283	CTT	C	T53213284G	CPT2	NM_000098.3(CPT2):c.1666_1667del:p.Leu556fs	coding	Pathogenic
1	53213342	TGG	T	G53213343A	CPT2	NM_000098.3(CPT2):c.1725_1726del:p.Asp576fs	coding	Pathogenic
1	53213354	AC	A	C53213355G	CPT2	NM_000098.3(CPT2):c.1737del:p.Ala578_Tyr579insTer	coding	Pathogenic
1	53213385	GAGCACACTGA	T	G53213385T	CPT2	NM_000098.3(CPT2):c.1767_1777delinsT:p.Ser590fs	coding	Pathogenic
1	53213399	GC	G	C53213402A	CPT2	NM_000098.3(CPT2):c.1784del:p.Pro595fs	coding	Pathogenic
1	53213539	GAGAAGGCCTTAGA	G	A53213543C	CPT2	NM_000098.3(CPT2):c.1925_1937del:p.Lys642fs	coding	Pathogenic
1	53213549	T	TA	G53213551A	CPT2	NM_000098.3(CPT2):c.1932dup:p.Glu645fs	coding	Pathogenic
1	54610464	CCACTCCACATTCAGACCGTCATCCCCAGG	C	C54610467G	FAM151A	NM_176782.3(FAM151A):c.1003_1031del:p.Pro335fs	coding	Benign
1	54758031	A	AG	A54758038G	PARS2	NM_152268.4(PARS2):c.1130dup:p.Pro377_Lys378insTer	coding	Pathogenic
1	54759053	CTCT	C	C54759058G	PARS2	NM_152268.4(PARS2):c.103_105AGA[1]:p.Arg36del	coding	Benign
1	55007173	GC	G	C55007176T	BSND	NM_057176.3(BSND):c.452del:p.Pro151fs	coding	Pathogenic
1	55039879	A	ACTG	C55039903G	PCSK9	NM_174936.3(PCSK9):c.63_65dupGCT	coding	Benign/Likely_benign
1	55039879	A	ATG	C55039880T	PCSK9	NM_174936.3(PCSK9):c.42_43insTG:p.Leu15fs	coding	Pathogenic
1	55039919	GC	G	C55039922G	PCSK9	NM_174936.3(PCSK9):c.85del:p.Arg29fs	coding	Pathogenic/Likely_pathogenic
1	55058666	C	CGT	C55058719G	PCSK9	NM_174936.4(PCSK9):c.1503+20GT[27]	noncoding	Benign
1	55058666	C	CGTGT	C55058719G	PCSK9	NM_174936.4(PCSK9):c.1503+20GT[28]	noncoding	Benign
1	55058666	CGT	C	G55058717C	PCSK9	NM_174936.4(PCSK9):c.1503+20GT[25]	noncoding	Benign
1	55058666	CGTGT	C	G55058715C	PCSK9	NM_174936.3(PCSK9):c.1503+20GT[24]	noncoding	Benign
1	55058666	CGTGTGTGTGTGT	C	G55058707C	PCSK9	NM_174936.3(PCSK9):c.1503+20GT[20]	noncoding	Benign/Likely_benign
1	55058666	CGTGTGTGTGTGTGT	C	G55058705C	PCSK9	NM_174936.3(PCSK9):c.1503+20GT[19]	noncoding	Benign/Likely_benign
1	55058666	CGTGTGTGTGTGTGTGT	C	G55058703C	PCSK9	NM_174936.3(PCSK9):c.1503+20GT[18]	noncoding	Benign
1	55058666	CGTGTGTGTGTGTGTGTGT	C	G55058701C	PCSK9	NM_174936.3(PCSK9):c.1503+20GT[17]	noncoding	Benign/Likely_benign
1	55058666	CGTGTGTGTGTGTGTGTGTGT	C	G55058699C	PCSK9	NM_174936.3(PCSK9):c.1503+20GT[16]	noncoding	Benign
1	55059478	ACT	A	C55059481A	PCSK9	NM_174936.4(PCSK9):c.1504-5_1504-4del	noncoding	Benign/Likely_benign
1	56945878	G	GCACAGCC	T56945886C	C8B	NM_000066.4(C8B):c.1041_1047dup:p.Leu350fs	coding	Pathogenic
1	56952108	CG	C	G56952112A	C8B	NM_000066.4(C8B):c.605del:p.Pro202fs	coding	Pathogenic
1	56956823	TG	T	G56956825T	C8B	NM_000066.4(C8B):c.336del:p.Asn113fs	coding	Pathogenic
1	57072423	GA	G	A57072431G	DAB1	NM_021080.5(DAB1):c.307-10del	noncoding	Benign
1	58576524	CT	C	T58576525G	TACSTD2	NM_002353.3(TACSTD2):c.632del:p.Gln211fs	coding	Pathogenic
1	61088426	G	GT	G61088429T	NFIA	NM_001134673.4(NFIA):c.307dup:p.Cys103fs	coding	Pathogenic
1	61088493	TAA	T	A61088495G	NFIA	NM_001134673.4(NFIA):c.374_375del:p.Lys125fs	coding	Pathogenic
1	61383297	C	CTT	C61383300T	NFIA	NM_001134673.4(NFIA):c.1008_1009dup:p.Ser337fs	coding	Pathogenic
1	61404120	AC	A	C61404122A	NFIA	NM_001134673.4(NFIA):c.1094del:p.Pro365fs	coding	Pathogenic
1	61404169	CCTTA	C	A61404173C	NFIA	NM_001134673.4(NFIA):c.1145_1148del:p.Tyr382fs	coding	Pathogenic
1	61406556	C	CCT	A61406558T	NFIA	NM_001134673.4(NFIA):c.1255-5_1255-4insTC	noncoding	Benign
1	61406556	C	CT	C61406557T	NFIA	NM_001134673.4(NFIA):c.1255-6_1255-5insT	noncoding	Benign
1	62210575	GAACT	G	T62210579A	L1TD1	NM_019079.5(L1TD1):c.1805_1808del:p.Leu602fs	coding	Benign
1	62455461	G	GA	T62455469A	DOCK7	NM_001367561.1(DOCK7):c.6381-12dup	noncoding	Benign
1	62489008	CT	C	T62489010C	DOCK7	NM_001367561.1(DOCK7):c.5418del:p.Ala1807fs	coding	Pathogenic
1	62496478	AT	A	T62496482A	DOCK7	NM_001367561.1(DOCK7):c.4783del:p.Met1595fs	coding	Pathogenic
1	62555910	GT	G	T62555911C	DOCK7	NM_001367561.1(DOCK7):c.2510del:p.Asp837fs	coding	Pathogenic
1	62578974	CA	C	A62578989T	DOCK7	NM_001367561.1(DOCK7):c.1872-9del	noncoding	Benign
1	62578974	C	CA	T62578990A	DOCK7	NM_001367561.1(DOCK7):c.1872-23dup	noncoding	Benign
1	62597616	CC	GA	C62597616G	ANGPTL3	NM_014495.4(ANGPTL3):c.50_51delinsGA:p.Ser17Ter	coding	Pathogenic
1	62597619	GA	G	A62597621T	ANGPTL3	NM_014495.4(ANGPTL3):c.55del:p.Ile19fs	coding	Pathogenic
1	62597921	GAACTC	G	C62597929A	ANGPTL3	NM_014495.4(ANGPTL3):c.358_362CTCAA[1]:p.Asn121fs	coding	Pathogenic
1	62597996	CAACT	C	A62598005T	ANGPTL3	NM_014495.4(ANGPTL3):c.431_434AACT[2]:p.Thr146_Asn147insTer	coding	Pathogenic
1	62647725	CA	C	A62647729T	DOCK7	NM_001367561.1(DOCK7):c.783del:p.Phe261fs	coding	Pathogenic
1	62654109	AATGA	T	A62654109T	DOCK7	NM_001367561.1(DOCK7):c.191_195delinsA:p.Leu64fs	coding	Pathogenic
1	63396573	CTT	C	T63396576A	ALG6	NM_013339.4(ALG6):c.146_147del:p.Thr48_Phe49insTer	coding	Pathogenic
1	63404484	CT	C	T63404485C	ALG6	NM_013339.4(ALG6):c.290del:p.Leu97fs	coding	Pathogenic
1	63407082	CT	C	T63407084G	ALG6	NM_013339.4(ALG6):c.452del:p.Leu151fs	coding	Pathogenic
1	63407120	A	AT	C63407125T	ALG6	NM_013339.4(ALG6):c.492dup:p.Gln165fs	coding	Pathogenic
1	63414092	AT	A	T63414093G	ALG6	NM_013339.4(ALG6):c.849del:p.Asn283fs	coding	Pathogenic
1	63414136	TTAA	T	A63414141G	ALG6	NM_013339.4(ALG6):c.894_896AAT[1]:p.Ile299del	coding	Pathogenic
1	63419380	C	CG	C63419382G	ALG6	NM_013339.4(ALG6):c.999dup:p.Leu334fs	coding	Pathogenic
1	63419387	ATT	A	T63419388C	ALG6	NM_013339.4(ALG6):c.1006_1007del:p.Phe336fs	coding	Pathogenic
1	63419396	AT	A	T63419400C	ALG6	NM_013339.4(ALG6):c.1018del:p.Ser340fs	coding	Pathogenic
1	63436833	C	CA	G63436835A	ALG6	NM_013339.4(ALG6):c.1338dup:p.Val447fs	coding	Pathogenic
1	63593574	TCC	T	C63593575A	PGM1	NM_002633.3(PGM1):c.87_88del:p.Phe29fs	coding	Pathogenic
1	63593645	CA	G	C63593645G	PGM1	NM_002633.3(PGM1):c.157_158delinsG:p.Gln53fs	coding	Pathogenic
1	63631759	TC	T	C63631761G	PGM1	NM_002633.3(PGM1):c.661del:p.Arg221fs	coding	Pathogenic
1	63634806	CA	TT	C63634806T	PGM1	NM_002633.3(PGM1):c.683-23_683-22delinsTT	noncoding	Benign
1	63638736	G	GT	G63638743T	PGM1	NM_002633.3(PGM1):c.1086dup:p.Gly363fs	coding	Pathogenic
1	63638745	GA	G	A63638747T	PGM1	NM_002633.3(PGM1):c.1091del:p.Asn364fs	coding	Pathogenic
1	63651763	TTC	T	T63651766A	PGM1	NM_002633.3(PGM1):c.1376_1377TC[1]:p.Ala461fs	coding	Pathogenic
1	65572318	A	ATTTTTTTTTT	A65572319T	LEPR	NM_002303.6(LEPR):c.371-8_371-7insTTTTTTTTTT	noncoding	Benign
1	65572433	CA	C	A65572434T	LEPR	NM_001003679.3(LEPR):c.479del:p.His160fs	coding	Pathogenic
1	65636776	A	AAG	T65636787A	LEPR	NM_002303.5(LEPR):c.3260_3261AG[6]:p.Ser1090fs	coding	Pathogenic
1	65637359	AAC	A	C65637377T	LEPR	NM_002303.5(LEPR):c.*362_*363delCA	noncoding	Benign
1	67050506	TG	T	G67050508A	SLC35D1	NM_015139.3(SLC35D1):c.393-3del	noncoding	Benign
1	67093186	CTCATT	C	T67093191G	C1orf141	NM_001276352.2(C1orf141):c.*389_*393del	coding	Benign
1	68098709	CA	C	A68098712C	WLS	NM_001002292.3(WLS):c.1554del:p.Phe518fs	coding	Benign
1	68429781	A	AT	G68429788T	RPE65	NM_000329.3(RPE65):c.1596dup:p.Ser533fs	coding	Pathogenic
1	68431148	TC	T	C68431149T	RPE65	NM_000329.3(RPE65):c.1366del:p.Glu456fs	coding	Pathogenic/Likely_pathogenic
1	68431503	T	TCCAG	A68431512C	RPE65	NM_000329.3(RPE65):c.1203_1206CTGG[3]:p.Glu404fs	coding	Pathogenic
1	68431504	C	CCCAG	A68431506C	RPE65	NM_000329.3(RPE65):c.1209_1210insCTGG:p.Glu404fs	coding	Pathogenic
1	68438247	A	AT	C68438256T	RPE65	NM_000329.3(RPE65):c.1067dup:p.Asn356fs	coding	Pathogenic
1	68438247	AT	A	T68438255C	RPE65	NM_000329.3(RPE65):c.1067del:p.Asn356fs	coding	Pathogenic
1	68438977	A	AT	G68438980T	RPE65	NM_000329.3(RPE65):c.962dup:p.Asn321fs	coding	Pathogenic
1	68439046	CT	C	T68439051C	RPE65	NM_000329.3(RPE65):c.893del:p.Lys298fs	coding	Pathogenic
1	68439183	AGACTTACCCCCATGGTTTCATTG	A	T68439188C	RPE65	NM_000329.3(RPE65):c.843_858+7del	noncoding	Pathogenic
1	68439215	ACAATC	A	A68439218T	RPE65	NM_000329.3(RPE65):c.829_833del:p.Asp277fs	coding	Pathogenic
1	68440879	ATG	A	G68440881T	RPE65	NM_000329.3(RPE65):c.615_616del:p.Ile206fs	coding	Pathogenic
1	68444580	GTC	G	C68444584G	RPE65	NM_000329.3(RPE65):c.444_445del:p.Glu148fs	coding	Pathogenic
1	68444584	CTG	C	T68444587C	RPE65	NM_000329.3(RPE65):c.440_441del:p.Thr147fs	coding	Pathogenic
1	68444664	G	GA	C68444672A	RPE65	NM_000329.3(RPE65):c.361dup:p.Ser121fs	coding	Pathogenic
1	68444817	GCCAAATTCTGTTATGACGAT	G	A68444820T	RPE65	NM_000329.2(RPE65):c.292_311del:p.Ile98Hisfs	coding	Pathogenic
1	68446804	CAA	C	A68446806G	RPE65	NM_000329.3(RPE65):c.149_150del:p.Leu49_Phe50insTer	coding	Pathogenic
1	68446807	A	ATTTG	G68446808T	RPE65	NM_000329.3(RPE65):c.147_148insCAAA:p.Phe50fs	coding	Pathogenic
1	68446816	GC	G	C68446819A	RPE65	NM_000329.3(RPE65):c.138del:p.Pro47fs	coding	Pathogenic
1	68448659	TCC	T	C68448660A	RPE65	NM_000329.3(RPE65):c.57_58del:p.Glu20fs	coding	Pathogenic
1	68449895	TG	T	G68449897A	RPE65	NM_000329.3(RPE65):c.10del:p.Gln4fs	coding	Pathogenic
1	74342872	C	CACTCCATGGG	T74342880G	TNNI3K	NM_015978.3(TNNI3K):c.720_721insGGGACTCCAT:p.Phe241fs	coding	Benign
1	75724782	GCCAACATGGCA	ACCCCGAAGG	G75724782A	ACADM	NM_000016.5(ACADM):c.-6_6delinsACCCCGAAGG:p.Met1fs	noncoding	Pathogenic
1	75728416	TC	T	C75728417T	ACADM	NM_001286042.1(ACADM):c.10+3600del	coding	Pathogenic
1	75728472	A	ATTAGGAT	T75728484G	ACADM	NM_001286042.1(ACADM):c.10+3660_10+3666dup	coding	Pathogenic/Likely_pathogenic
1	75728544	GT	G	T75728548G	ACADM	NM_000016.5(ACADM):c.118+60del	noncoding	Benign
1	75728549	GT	G	T75728552G	ACADM	NM_000016.5(ACADM):c.118+64del	noncoding	Benign
1	75732687	AT	A	T75732690G	ACADM	NM_001286044.1(ACADM):c.-221del	coding	Pathogenic
1	75732879	C	CT	G75732881T	ACADM	NM_000016.5(ACADM):c.244dup:p.Trp82fs	coding	Pathogenic
1	75733559	TTTAA	T	A75733563G	ACADM	NM_000016.5(ACADM):c.322_325del:p.Ile108fs	coding	Pathogenic
1	75733571	AGAATTGGCTTATG	A	A75733574T	ACADM	NM_000016.6(ACADM):c.333_345del:p.Glu111fs	coding	Pathogenic
1	75733582	ATGGATG	A	G75733584A	ACADM	NM_001286044.1(ACADM):c.-100+662_-100+667del	coding	Pathogenic
1	75733592	A	AG	T75733597G	ACADM	NM_001286044.1(ACADM):c.-100+674dup	coding	Pathogenic/Likely_pathogenic
1	75734798	CTAT	C	A75734806G	ACADM	NM_001286044.1(ACADM):c.-100+1877TAT[2]	coding	Pathogenic
1	75734824	CA	C	A75734828G	ACADM	NM_001286044.1(ACADM):c.-100+1906del	coding	Pathogenic
1	75734828	AG	A	G75734829A	ACADM	NM_001286044.1(ACADM):c.-100+1907del	coding	Pathogenic
1	75734832	GAAGT	G	A75734834T	ACADM	NM_000016.5(ACADM):c.431_434del:p.Lys144fs	coding	Pathogenic
1	75734848	ATGAC	A	C75734852G	ACADM	NM_000016.5(ACADM):c.449_452del:p.Thr150fs	coding	Pathogenic
1	75740049	GGA	G	G75740052T	ACADM	NM_001286044.1(ACADM):c.-29_-28GA[1]	coding	Pathogenic
1	75745806	GT	G	T75745807A	ACADM	NM_000016.6(ACADM):c.601del:p.Tyr201fs	coding	Pathogenic
1	75745888	AC	A	C75745892A	ACADM	NM_000016.6(ACADM):c.686del:p.Pro229fs	coding	Pathogenic
1	75749504	GTGACGGAGC	TTTAA	G75749504T	ACADM	NM_000016.6(ACADM):c.794_803delinsTTTAA:p.Gly265_Ala268delinsValTer	coding	Pathogenic
1	75749524	GTTGCAATGGGAGC	G	G75749527T	ACADM	NM_000016.5(ACADM):c.817_829del:p.Ala273fs	coding	Pathogenic/Likely_pathogenic
1	75750480	AAG	A	A75750483C	ACADM	NM_000016.5(ACADM):c.880_881AG[1]:p.Arg294fs	coding	Pathogenic
1	75750524	C	CT	C75750528T	ACADM	NM_000016.5(ACADM):c.926dup:p.Gly310fs	coding	Pathogenic/Likely_pathogenic
1	75750527	TC	T	C75750528G	ACADM	NM_000016.5(ACADM):c.927del:p.Phe309fs	coding	Pathogenic
1	75761148	T	TG	A75761150G	ACADM	NM_000016.6(ACADM):c.973dup:p.Glu325fs	coding	Pathogenic
1	75761159	TG	T	G75761160A	ACADM	NM_000016.5(ACADM):c.984del:p.Met328fs	coding	Pathogenic/Likely_pathogenic
1	75761164	GTTGAACTAGCTAGAATGAGTTA	G	T75761165C	ACADM	NM_000016.5(ACADM):c.989_1010del:p.Val330fs	coding	Pathogenic
1	75761173	G	GCTAGAATGAGTTA	C75761188T	ACADM	NM_000016.5(ACADM):c.999_1011dup:p.Gln338Ter	coding	Pathogenic/Likely_pathogenic
1	75761187	C	CCTAGAATGAGTTA	A75761189T	ACADM	NM_000016.5(ACADM):c.1012_1013insTAGAATGAGTTAC:p.Gln338delinsLeuGluTer	coding	Pathogenic
1	75761275	CAGTT	C	T75761278C	ACADM	NM_000016.5(ACADM):c.1102_1105del:p.Ala369fs	coding	Pathogenic
1	75761289	T	TG	C75761291G	ACADM	NM_000016.5(ACADM):c.1114dup:p.Ala372fs	coding	Pathogenic
1	75761364	C	CT	A75761366T	ACADM	NM_000016.5(ACADM):c.1189dup:p.Tyr397fs	coding	Pathogenic
1	75762716	CAA	C	A75762718G	ACADM	NM_000016.5(ACADM):c.1221_1222del:p.Arg408fs	coding	Pathogenic/Likely_pathogenic
1	77558660	C	CTAT	T77558665A	AK5	NM_174858.3(AK5):c.1681_1683dup:p.Ile561dup	coding	Benign
1	77925198	TAAAC	T	A77925201T	NEXN	NM_144573.3(NEXN):c.461_464del:p.Asn154fs	coding	Pathogenic
1	77926630	GT	G	T77926634C	NEXN	NM_144573.3(NEXN):c.687+23del	noncoding	Benign
1	77936014	TAA	T	A77936016G	NEXN	NM_144573.3(NEXN):c.1445_1446del:p.Lys482fs	coding	Pathogenic
1	85071977	CA	C	A85071984G	DNAI3	NM_145172.5(DNAI3):c.43del:p.Arg15fs	coding	Benign
1	85267691	CCTT	C	T85267700A	BCL10	NM_003921.5(BCL10):c.629_631AAG[2]:p.Glu212del	coding	Pathogenic
1	85267787	CTGCCTACTTCTAGAACA	C	T85267788G	BCL10	NM_003921.5(BCL10):c.525_541del:p.Val176fs	coding	Pathogenic
1	85267829	G	GA	G85267837A	BCL10	NM_003921.5(BCL10):c.499dup:p.Ser167fs	coding	Pathogenic
1	85267900	GA	G	A85267903T	BCL10	NM_003921.5(BCL10):c.428del:p.Phe143fs	coding	Pathogenic
1	85267900	G	GAA	T85267904A	BCL10	NM_003921.5(BCL10):c.427_428dup:p.Glu145fs	coding	Pathogenic
1	85267918	AT	A	T85267921G	BCL10	NM_003921.5(BCL10):c.410del:p.Asn137fs	coding	Pathogenic
1	85267930	G	GA	G85267932A	BCL10	NM_003921.5(BCL10):c.398dup:p.Ser134fs	coding	Pathogenic
1	85270618	CT	C	T85270621C	BCL10	NM_003921.5(BCL10):c.345del:p.Gly116fs	coding	Pathogenic
1	85270732	C	CT	G85270737T	BCL10	NM_003921.5(BCL10):c.231dup:p.Gly78fs	coding	Pathogenic
1	85270800	A	AT	C85270804T	BCL10	NM_003921.5(BCL10):c.163dup:p.Ile55fs	coding	Pathogenic
1	85270827	A	AT	G85270836T	BCL10	NM_003921.5(BCL10):c.136dup:p.Ile46fs	coding	Pathogenic
1	85270827	AT	A	T85270835G	BCL10	NM_003921.5(BCL10):c.136del:p.Ile46fs	coding	Pathogenic
1	91266061	GG	C	G91266061C	HFM1	NM_001017975.5(HFM1):c.3929_3930delinsG:p.Pro1310fs	coding	Pathogenic
1	91385237	G	GA	T91385247A	HFM1	NM_001017975.5(HFM1):c.755-12dup	noncoding	Benign
1	92263708	T	TA	C92263712A	GLMN	NM_053274.3(GLMN):c.1323dup:p.Thr442fs	coding	Pathogenic
1	92266451	CTTG	C	G92266454A	GLMN	NM_053274.3(GLMN):c.1179_1181del:p.Asn393del	coding	Pathogenic
1	92271540	GCTAA	G	A92271543G	GLMN	NM_053274.3(GLMN):c.844_847del:p.Leu282fs	coding	Pathogenic
1	92271644	T	TA	C92271651A	GLMN	NM_053274.3(GLMN):c.743dup:p.Leu248fs	coding	Pathogenic
1	92297407	ATTCTT	A	T92297411A	GLMN	NM_053274.3(GLMN):c.157_161del:p.Glu52_Lys53insTer	coding	Pathogenic
1	92297534	CA	C	A92297548C	GLMN	NM_053274.3(GLMN):c.40-6del	noncoding	Benign
1	92478757	CAGAGAGAGAGAG	C	G92478783T	GFI1	NM_005263.5(GFI1):c.925-40CT[12]	noncoding	Benign
1	92478757	CAGAGAGAG	C	G92478787T	GFI1	NM_005263.5(GFI1):c.925-40CT[14]	noncoding	Benign
1	92478757	CAGAGAG	C	G92478789T	GFI1	NM_005263.5(GFI1):c.925-40CT[15]	noncoding	Benign
1	92478757	C	CAGAGAGAGAGAGAGAGAG	T92478795G	GFI1	NM_005263.5(GFI1):c.925-40CT[27]	noncoding	Benign
1	92478757	C	CAGAGAGAGAGAGAGAG	T92478795G	GFI1	NM_005263.5(GFI1):c.925-40CT[26]	noncoding	Benign
1	92478757	C	CAGAGAGAGAGAG	T92478795G	GFI1	NM_005263.5(GFI1):c.925-40CT[24]	noncoding	Benign
1	92478757	C	CAGGGAGAGAG	A92478760G	GFI1	NM_005263.5(GFI1):c.925-5_925-4insCTCTCTCTCC	noncoding	Benign
1	92478757	C	CAG	T92478795G	GFI1	NM_005263.5(GFI1):c.925-40CT[19]	noncoding	Benign
1	92483343	AGCCCCGCCTGGCCCGCGCGC	A	C92483347T	GFI1	NM_005263.5(GFI1):c.115+10_115+29del	noncoding	Benign
1	92833390	GGTTT	G	T92833394A	RPL5	NM_000969.5(RPL5):c.9_12del:p.Phe3fs	coding	Pathogenic
1	92833397	T	TA	G92833401A	RPL5	NM_000969.5(RPL5):c.15dup:p.Val6fs	coding	Pathogenic
1	92833424	TA	T	A92833426G	RPL5	NM_000969.5(RPL5):c.41del:p.Lys14fs	coding	Pathogenic
1	92833612	CAAAT	C	A92833614C	RPL5;DIPK1A	NM_000969.5(RPL5):c.143_146del:p.Lys48fs	coding	Pathogenic
1	92833626	T	TAGTTCGTGTGACA	A92833641G	RPL5	NM_000969.5(RPL5):c.157_169dup:p.Asn57fs	coding	Pathogenic
1	92833636	GACAA	G	A92833640G	RPL5	NM_000969.5(RPL5):c.169_172del:p.Asn57fs	coding	Pathogenic
1	92833642	CAG	C	G92833646T	RPL5	NM_000969.5(RPL5):c.173_174GA[1]:p.Asp59fs	coding	Pathogenic
1	92834823	G	GT	A92834825T	RPL5	NM_000969.5(RPL5):c.235dup:p.Tyr79fs	coding	Pathogenic
1	92834844	A	AT	A92834846T	RPL5	NM_000969.5(RPL5):c.256dup:p.Tyr86fs	coding	Pathogenic
1	92834855	AG	A	G92834857T	RPL5	NM_000969.5(RPL5):c.268del:p.Val90fs	coding	Pathogenic
1	92836199	AGGTT	A	G92836200T	RPL5	NM_000969.5(RPL5):c.335_338del:p.Arg112fs	coding	Pathogenic
1	92836266	G	GC	A92836268C	RPL5;DIPK1A	NM_000969.5(RPL5):c.402dup:p.Ile135fs	coding	Pathogenic
1	92837560	T	TA	T92837563A	RPL5	NM_000969.5(RPL5):c.634dup:p.Met212fs	coding	Pathogenic
1	92837619	G	GT	A92837621T	RPL5	NM_000969.5(RPL5):c.692dup:p.Thr232fs	coding	Pathogenic
1	94010858	CT	C	T94010860C	ABCA4	NM_000350.3(ABCA4):c.5655del:p.Val1887fs	coding	Pathogenic
1	94014610	GCA	G	C94014613A	ABCA4	NM_000350.3(ABCA4):c.5389_5390TG[1]:p.Cys1797_Ala1798insTer	coding	Pathogenic/Likely_pathogenic
1	94014666	GTACA	G	A94014668C	ABCA4	NM_000350.3(ABCA4):c.5333_5336del:p.Met1778fs	coding	Pathogenic
1	94014685	G	GT	C94014686T	ABCA4	NM_000350.3(ABCA4):c.5317_5318insA:p.Ala1773fs	coding	Pathogenic
1	94015761	CA	C	A94015763G	ABCA4	NM_000350.3(ABCA4):c.5289del:p.Val1764fs	coding	Pathogenic/Likely_pathogenic
1	94015818	TGCCCACCACCA	T	C94015824G	ABCA4	NM_000350.3(ABCA4):c.5222_5232del:p.Leu1741fs	coding	Pathogenic
1	94019602	T	TC	A94019604C	ABCA4	NM_000350.3(ABCA4):c.5175dup:p.Thr1726fs	coding	Pathogenic/Likely_pathogenic
1	94019615	GGT	G	T94019617G	ABCA4	NM_000350.3(ABCA4):c.5161_5162del:p.Thr1721fs	coding	Pathogenic
1	94019718	AT	A	T94019719C	ABCA4	NM_000350.3(ABCA4):c.5059del:p.Ile1687fs	coding	Pathogenic
1	94019719	TCACGCAGATGGCAAC	T	G94019723A	ABCA4	NM_000350.3(ABCA4):c.5044_5058del:p.Val1682_Val1686del	coding	Pathogenic
1	94021241	CTGTAA	C	G94021243C	ABCA4	NM_000350.3(ABCA4):c.5012_5016del:p.Ile1671fs	coding	Pathogenic
1	94021310	CG	C	G94021314C	ABCA4	NM_000350.3(ABCA4):c.4947del:p.Glu1650fs	coding	Pathogenic
1	94021362	A	AT	G94021365T	ABCA4	NM_000350.3(ABCA4):c.4895dup:p.Asn1632fs	coding	Pathogenic
1	94021377	CA	C	A94021378G	ABCA4	NM_000350.3(ABCA4):c.4880del:p.Leu1627fs	coding	Pathogenic/Likely_pathogenic
1	94021649	GT	G	T94021650C	ABCA4	NM_000350.3(ABCA4):c.4838del:p.Asp1613fs	coding	Pathogenic/Likely_pathogenic
1	94021701	C	CT	A94021703T	ABCA4	NM_000350.3(ABCA4):c.4786dup:p.Arg1596fs	coding	Pathogenic
1	94021729	AAC	A	C94021731A	ABCA4	NM_000350.3(ABCA4):c.4774-17_4774-16del	noncoding	Benign
1	94021879	TAAAAAC	T	A94021880C	ABCA4	NM_000350.3(ABCA4):c.4734_4739del:p.Phe1579_Leu1580del	coding	Pathogenic
1	94021937	GA	G	A94021940T	ABCA4	NM_000350.3(ABCA4):c.4681del:p.Ser1561fs	coding	Pathogenic
1	94023412	CT	C	T94023415A	ABCA4	NM_000350.3(ABCA4):c.4640del:p.Lys1547fs	coding	Pathogenic
1	94023417	AG	A	G94023418C	ABCA4	NM_000350.3(ABCA4):c.4635del:p.Ser1545_Leu1546insTer	coding	Pathogenic
1	94024962	TATAAGAGCAGGATA	T	A94024963C	ABCA4	NM_000350.3(ABCA4):c.4612_4625del:p.Tyr1538fs	coding	Pathogenic
1	94029446	TG	T	G94029453C	ABCA4	NM_000350.3(ABCA4):c.4537del:p.Gln1513fs	coding	Pathogenic
1	94029446	T	TG	C94029454G	ABCA4	NM_000350.3(ABCA4):c.4537dup:p.Gln1513fs	coding	Pathogenic
1	94030997	TGAA	T	A94031002G	ABCA4	NM_000350.3(ABCA4):c.4246_4248TTC[1]:p.Phe1417del	coding	Pathogenic
1	94031026	CA	C	A94031027G	ABCA4	NM_000350.3(ABCA4):c.4222del:p.Trp1408fs	coding	Pathogenic
1	94031797	TG	T	G94031799C	ABCA4	NM_000350.3(ABCA4):c.4108del:p.His1370fs	coding	Pathogenic
1	94031868	CGT	C	G94031871T	ABCA4	NM_000350.3(ABCA4):c.4034_4035AC[1]:p.Thr1346fs	coding	Pathogenic
1	94031901	TGG	T	G94031905A	ABCA4	NM_000350.3(ABCA4):c.4003_4004del:p.Pro1335fs	coding	Pathogenic
1	94031935	GC	G	C94031939T	ABCA4	NM_000350.3(ABCA4):c.3970del:p.Ala1324fs	coding	Pathogenic
1	94031971	T	TG	T94031973G	ABCA4	NM_000350.3(ABCA4):c.3934dup:p.Gln1312fs	coding	Pathogenic
1	94036742	GCAAA	G	A94036745G	ABCA4	NM_000350.3(ABCA4):c.3856_3859del:p.Phe1286fs	coding	Pathogenic
1	94036775	AC	A	C94036777T	ABCA4	NM_000350.3(ABCA4):c.3826del:p.Val1276fs	coding	Pathogenic
1	94037311	AC	A	C94037312A	ABCA4	NM_000350.3(ABCA4):c.3646del:p.Val1216fs	coding	Pathogenic
1	94040066	A	AAC	G94040067A	ABCA4	NM_000350.3(ABCA4):c.3583_3584insGT:p.Leu1195fs	coding	Pathogenic
1	94040094	TGGAGAAACCCTTAGAC	T	G94040096A	ABCA4	NM_000350.3(ABCA4):c.3540_3555del:p.Ser1181fs	coding	Pathogenic
1	94040117	C	CTGCA	G94040122T	ABCA4	NM_000350.3(ABCA4):c.3529_3532dup:p.Ser1178fs	coding	Pathogenic
1	94041279	AAGC	A	C94041282T	ABCA4	NM_000350.3(ABCA4):c.3449_3451del:p.Cys1150del	coding	Pathogenic
1	94042877	G	GAC	G94042881C	ABCA4	NM_000350.3(ABCA4):c.3210_3211dup:p.Ser1071fs	coding	Pathogenic
1	94042878	A	AAC	C94042879A	ABCA4	NM_000350.2(ABCA4):c.3210_3211insGT:p.Ser1071Valfs	coding	Pathogenic
1	94043386	TC	T	C94043388A	ABCA4	NM_000350.3(ABCA4):c.3139del:p.Glu1047fs	coding	Pathogenic
1	94043432	CT	C	T94043435C	ABCA4	NM_000350.3(ABCA4):c.3093del:p.Gly1032fs	coding	Pathogenic
1	94044675	GGTTTCAAT	G	T94044678C	ABCA4	NM_000350.3(ABCA4):c.2980_2987del:p.Ile994fs	coding	Pathogenic/Likely_pathogenic
1	94044735	CA	C	A94044736G	ABCA4	NM_000350.3(ABCA4):c.2927del:p.Leu976fs	coding	Pathogenic
1	94046948	GC	G	C94046951A	ABCA4	NM_000350.3(ABCA4):c.2888del:p.Gly963fs	coding	Pathogenic
1	94047007	GC	G	C94047009G	ABCA4	NM_000350.3(ABCA4):c.2829del:p.Pro944fs	coding	Pathogenic
1	94048878	TTC	T	C94048880G	ABCA4	NM_000350.3(ABCA4):c.2731_2732del:p.Glu911fs	coding	Pathogenic
1	94051668	AAG	A	A94051669T	ABCA4	NM_000350.3(ABCA4):c.2616_2617del:p.Phe873fs	coding	Pathogenic
1	94051669	AG	A	G94051670T	ABCA4	NM_000350.3(ABCA4):c.2616del:p.Leu874fs	coding	Pathogenic
1	94051670	GTACCAAGGAAGTGGGGTTCCATAGTCTCCTAAAAATAGAGACAAATAAACAGAGAAAGTCGAAGGAGTCTCCCTATCCTACCTTACCGCAGTTCTATAAGATCTAGAGTTTATTTACCTGAACCTCAAATTGTAACTATAGATATTTGCAGTTATTATTACATGGCTATTCTCAGGCTCCCAGAAAGAC	G	A94051675C	ABCA4	NM_000350.3(ABCA4):c.2588-161_2615del	coding	Pathogenic
1	94051682	TG	T	G94051686T	ABCA4	NM_000350.3(ABCA4):c.2603del:p.Pro868fs	coding	Pathogenic
1	94051703	AAA	CC	A94051703C	ABCA4	NM_000350.3(ABCA4):c.2588-7_2588-5delinsGG	noncoding	Pathogenic
1	94055141	GT	G	T94055142A	ABCA4	NM_000350.3(ABCA4):c.2556del:p.Leu852fs	coding	Pathogenic
1	94055289	TC	T	C94055291A	ABCA4	NM_000350.3(ABCA4):c.2408del:p.Gly803fs	coding	Pathogenic
1	94055301	C	CGG	A94055304G	ABCA4	NM_000350.3(ABCA4):c.2395_2396dup:p.Val800fs	coding	Pathogenic
1	94060683	TCA	T	C94060686G	ABCA4	NM_000350.3(ABCA4):c.2010_2011TG[1]:p.Val671fs	coding	Pathogenic
1	94060690	CAT	C	A94060691G	ABCA4	NM_000350.3(ABCA4):c.2005_2006del:p.Met669fs	coding	Pathogenic
1	94062665	GT	G	T94062667C	ABCA4	NM_000350.3(ABCA4):c.1848del:p.Glu616fs	coding	Pathogenic
1	94062722	CG	C	G94062725A	ABCA4	NM_000350.3(ABCA4):c.1791del:p.Val598fs	coding	Pathogenic
1	94062748	CA	C	A94062750T	ABCA4	NM_000350.3(ABCA4):c.1765del:p.Trp589fs	coding	Pathogenic
1	94063238	T	TTTTC	C94063243T	ABCA4	NM_000350.3(ABCA4):c.1630_1633dup:p.Asn545fs	coding	Pathogenic/Likely_pathogenic
1	94063249	TAG	T	A94063256G	ABCA4	NM_000350.3(ABCA4):c.1615_1616CT[3]:p.Leu541fs	coding	Pathogenic
1	94063256	AG	A	G94063259C	ABCA4	NM_000350.3(ABCA4):c.1615del:p.Leu539fs	coding	Pathogenic
1	94077789	GC	G	C94077792T	ABCA4	NM_000350.3(ABCA4):c.1454del:p.Gly485fs	coding	Pathogenic
1	94077823	G	GTAAT	A94077828T	ABCA4	NM_000350.3(ABCA4):c.1417_1420dup:p.Thr474fs	coding	Pathogenic
1	94078579	A	AC	T94078586C	ABCA4	NM_000350.3(ABCA4):c.1356+5dup	noncoding	Benign
1	94078584	C	CG	C94078585G	ABCA4	NM_000350.3(ABCA4):c.1356+5_1356+6insC	noncoding	Benign/Likely_benign
1	94078585	C	CG	T94078586G	ABCA4	NM_000350.3(ABCA4):c.1356+4_1356+5insC	noncoding	Benign
1	94078643	CT	C	T94078644A	ABCA4	NM_000350.3(ABCA4):c.1302del:p.Gln437fs	coding	Pathogenic
1	94079335	CT	C	T94079337C	ABCA4	NM_000350.3(ABCA4):c.1225del:p.Arg409fs	coding	Pathogenic
1	94079388	CT	C	T94079391G	ABCA4	NM_000350.3(ABCA4):c.1172del:p.Lys391fs	coding	Pathogenic
1	94080496	A	AATAG	G94080505A	ABCA4	NM_000350.3(ABCA4):c.1077_1080dup:p.Ser361fs	coding	Pathogenic
1	94080538	CCTTATAGTTATTGT	C	A94080542C	ABCA4	NM_000350.3(ABCA4):c.1025_1038del:p.Asp342fs	coding	Pathogenic/Likely_pathogenic
1	94080609	AG	A	G94080611A	ABCA4	NM_000350.3(ABCA4):c.967del:p.Leu323fs	coding	Pathogenic
1	94080691	AG	A	G94080692T	ABCA4	NM_000350.3(ABCA4):c.885del:p.Leu296fs	coding	Pathogenic
1	94083352	CTCTTGAAT	C	A94083358G	ABCA4	NM_000350.3(ABCA4):c.850_857del:p.Ile284fs	coding	Pathogenic
1	94083375	CA	C	A94083376G	ABCA4	NM_000350.3(ABCA4):c.834del:p.Asp279fs	coding	Pathogenic
1	94098883	AGCGCACCGTCTTT	A	G94098886C	ABCA4	NM_000350.3(ABCA4):c.666_678del:p.Lys223fs	coding	Pathogenic
1	94098897	GC	G	C94098901G	ABCA4	NM_000350.3(ABCA4):c.664del:p.Ala222fs	coding	Pathogenic
1	94098922	TG	T	G94098923A	ABCA4	NM_000350.3(ABCA4):c.639del:p.Phe213fs	coding	Pathogenic
1	94098981	C	CCATGAGCGAA	T94098993A	ABCA4	NC_000001.11:g.94098982_94098991dup	coding	Pathogenic
1	94103020	CT	C	T94103021G	ABCA4	NM_000350.3(ABCA4):c.564del:p.Glu189fs	coding	Pathogenic/Likely_pathogenic
1	94103067	A	AG	C94103070G	ABCA4	NM_000350.3(ABCA4):c.517dup:p.Leu173fs	coding	Pathogenic
1	94103093	TGTCA	T	C94103096G	ABCA4	NM_000350.3(ABCA4):c.488_491del:p.Leu163fs	coding	Pathogenic
1	94108671	TGC	T	G94108672A	ABCA4	NM_000350.3(ABCA4):c.346_347del:p.Ala116fs	coding	Pathogenic
1	94111443	G	GT	G94111446T	ABCA4	NM_000350.3(ABCA4):c.296dup:p.Asn99fs	coding	Pathogenic
1	94111452	GT	G	T94111455G	ABCA4	NM_000350.3(ABCA4):c.287del:p.Asn96fs	coding	Pathogenic
1	94111489	C	CTTTG	A94111494T	ABCA4	NM_000350.3(ABCA4):c.247_250dup:p.Ser84fs	coding	Pathogenic
1	94113024	GA	G	A94113027T	ABCA4	NM_000350.3(ABCA4):c.108del:p.Leu37fs	coding	Pathogenic/Likely_pathogenic
1	94516478	ACATTGAGAGGAATTGAGAGCATTTGGGTTTCACCCTTCCTCTTCTTTTGGAGGTATAGACAAGTAGCAAAATAATCATCACGCCAGTGATCATGTGAAGGAGGGGAACACAACTAGAATGTGAGGGGCCAGGATAGCTAAGAAATAGTAATACAGAAAATGGAAACTCAGAAAGCTTTCTGAAAATAAGCCACTAAATAAAAACAGAAGGCTTTGTAACTGCTGTTGTGTCTTCAGAGGTTAGGATATATCGGCAGTTTTTATAGCTCTTTTTCCCCTCTACTAAATTAAAAACAAATAAAAAGCCTTAAGCTGGAGATTTCAAGCTGATTAGGAAATCAGGCTACAGGAAACAATACTGACTGACCTATGGAACAGTCTTGCATTTAGCACAGTTTAACCTACTGGTAGCTGAGATCCTTGGTCATGGAGTTACGGAAGCATTCTGATTTGTGGGATGCTTATAGATTTAGCTCCCTTAAAATAATGAGGAAGTCTGTATTTTACTTTTCATAAAAGACAGTACTATATTCACTCTTAGTTACTGACTTTTTTTCCCCCTTCTTTCCCATAGTACTACCTGCATATGGATGGCAGAGGCAACTATGAATTCAAACAGATAACAGAAGATACAGTTGAGTTTGGCTCTTAGAGAAATCTGGAGAACTATACCTGCTTCAGTGAAATAATTACAGAATATACTTAGAAAGGCAAAGTACATTGTAAAATAAAGTTGAGCTTAGTTTTTTTTAAAAAAAAAAACAAAGCAACAAATTAACTAGATACAGAATAATGGAGAACAAGTTGTTAAAACATTTAATATTATATAGGATATTGCTAATTGTGTATATGTTGGTTTAATTAATAATATGTACTAAGAATGTCCTTATTCTTGTGGTTAAAAACCTGCCTAAATTAAATTGGGCTTCAATCACTGTAACCTGATTCATCCTGGGATGTAAACCATTCGAAGTCAGCTAATTGGACTTTTATGGCTCTATCTTTTCCTTCAGTGAAGAACCCTATTTAAAACTGGGTCATCATTTGTCCTGTTCTAGCAAGATAGTCTTCAGTTTCATTTTCCTGTGCCCTGTGGTAGTTGGAAACAAATCATAATGTATTATTTAAATGTTTAACATCATTGCATAACAGCGTTTATTATACAGTGGCAGATTTCTTTAGCTGCCACAGTAATACTCATTCCTTGTGTGTGTCTTGGAGTGCATTTGACTCCAGGAAAAGCCATTTTGGTTTTCCTTAACTAAATGATAAATGTACCCCTCTCAGTCTGCAGTATTGAGTTGTTTAAAGTATATGTGCAGTCTTGCTTACAAGGAGGGGTTACCATGTATCACACCTAATCTTCCCAATGTTTGGGATATTAAAACACAAAGTCCTTAACATGCCAGGCTCAAGGTCTTATAAGAGTTCTAGATTTTTAAGAGAATTAGACAAATTTGTGTGTGTTAGAAGCCCATTCATTAGAAGTGTGGTGGTTATTTGGTATTAAACTCCAAATGAGCCATAGGAAGGCACTACATGAAATAATGCACTGAGTATGCAATGCTATCACTGTCTTTGACTGTGATTTTATGTTTAAAAAGTATGTTCTAAAATTATTATATATACATGGGTGAATTATGTTTCCGAGGCACTGTTTTATCTCTGTGAATCTTGAATAACTTTTTTATATTTGGGTTATGATGTCAAACGATCCTAAGCGAAGATGATTTCAGTTCATCAAATCATCATTAATGACT	A	C94516479T	ABCD3	NM_002858.4(ABCD3):c.1903-573_*1108del	noncoding	Pathogenic
1	95027119	TCTTA	T	T95027125C	ALG14	NM_144988.4(ALG14):c.420+6_420+9del	noncoding	Pathogenic
1	97883279	AGGATTTCT	A	G97883280T	DPYD	NM_001160301.1(DPYD):c.127_134del:p.Lys42_Arg43insTer	coding	Pathogenic/Likely_pathogenic
1	99851058	CAG	C	G99851060T	AGL	NM_000642.3(AGL):c.18_19del:p.Gln6fs	coding	Pathogenic/Likely_pathogenic
1	99851063	TC	T	C99851064G	AGL	NM_000642.3(AGL):c.22del:p.Arg8fs	coding	Pathogenic/Likely_pathogenic
1	99851065	GAA	G	A99851066T	AGL	NM_000642.3(AGL):c.24_25del:p.Ile9fs	coding	Pathogenic
1	99861576	TC	T	C99861578T	AGL	NM_000642.3(AGL):c.158del:p.Pro53fs	coding	Pathogenic
1	99861632	CAG	C	G99861634A	AGL	NM_000642.3(AGL):c.214_215del:p.Glu72fs	coding	Pathogenic
1	99861669	T	TA	T99861672A	AGL	NM_000642.3(AGL):c.251dup:p.Asn84fs	coding	Pathogenic
1	99861695	AG	A	G99861696T	AGL	NM_000642.3(AGL):c.276del:p.Gln92fs	coding	Pathogenic
1	99862306	GTTGGTGCTGATAATCATGTGCTACCC	G	T99862311A	AGL	NM_000642.3(AGL):c.348_373del:p.Ala117fs	coding	Pathogenic/Likely_pathogenic
1	99864423	T	TG	A99864426G	AGL	NM_000642.3(AGL):c.500dup:p.Leu168fs	coding	Pathogenic/Likely_pathogenic
1	99864448	CT	C	T99864450G	AGL	NM_000642.3(AGL):c.525del:p.Ala176fs	coding	Pathogenic
1	99864457	CAGTT	C	T99864460A	AGL	NM_000642.3(AGL):c.535_538del:p.Leu179fs	coding	Pathogenic
1	99864529	GA	G	A99864534T	AGL	NM_000642.3(AGL):c.609del:p.Lys203fs	coding	Pathogenic
1	99864556	AT	A	T99864559G	AGL	NM_000642.3(AGL):c.634del:p.Cys212fs	coding	Pathogenic
1	99870484	TAGAC	T	C99870488G	AGL	NM_000642.3(AGL):c.753_756del:p.Asp251fs	coding	Pathogenic
1	99870764	CG	C	G99870765A	AGL	NM_000642.3(AGL):c.854del:p.Arg285fs	coding	Pathogenic/Likely_pathogenic
1	99870770	ATAAT	A	A99870772T	AGL	NM_000642.3(AGL):c.861_864del:p.Ile288fs	coding	Pathogenic
1	99870847	AT	A	T99870850A	AGL	NM_000642.3(AGL):c.939del:p.Phe313fs	coding	Pathogenic
1	99874727	T	TA	C99874729A	AGL	NM_000642.3(AGL):c.1000dup:p.Thr334fs	coding	Pathogenic
1	99875172	TG	T	G99875173A	AGL	NM_000642.3(AGL):c.1102del:p.Glu368fs	coding	Pathogenic
1	99875396	ACTGG	A	T99875402C	AGL	NM_000642.3(AGL):c.1226_1229TGGC[1]:p.Gly411fs	coding	Pathogenic
1	99876548	CAATG	C	A99876549G	AGL	NM_000642.3(AGL):c.1375_1378del:p.Asn459fs	coding	Pathogenic
1	99876555	TG	T	G99876558T	AGL	NM_000642.3(AGL):c.1384del:p.Trp461_Val462insTer	coding	Pathogenic/Likely_pathogenic
1	99877701	AT	A	T99877702G	AGL	NM_000642.3(AGL):c.1485del:p.Arg494_Tyr495insTer	coding	Pathogenic
1	99877713	C	CAGAG	G99877718A	AGL	NM_000642.3(AGL):c.1497_1500dup:p.Asp501fs	coding	Pathogenic
1	99877744	G	GA	T99877751A	AGL	NM_000642.3(AGL):c.1533dup:p.Tyr512fs	coding	Pathogenic
1	99877779	AG	A	G99877782A	AGL	NM_000642.3(AGL):c.1565del:p.Gly522fs	coding	Pathogenic
1	99879999	T	GA	T99879999G	AGL	NM_000642.3(AGL):c.1688delinsGA:p.Leu563fs	coding	Pathogenic
1	99880002	AC	A	C99880003A	AGL	NM_000642.3(AGL):c.1692del:p.Asp564fs	coding	Pathogenic
1	99880027	C	CA	T99880029A	AGL	NM_000642.3(AGL):c.1717dup:p.Ile573fs	coding	Pathogenic
1	99880043	AGAGGTAGGCTTGTTG	A	G99880047T	AGL	NM_000642.3(AGL):c.1735+1_1735+15del	coding	Pathogenic
1	99881172	CATC	T	C99881172T	AGL	NM_000642.3(AGL):c.1996_1999delinsT:p.His666_Gln667delinsTer	coding	Pathogenic
1	99881174	TC	T	C99881175A	AGL	NM_000642.3(AGL):c.1999del:p.Gln667fs	coding	Pathogenic
1	99881311	AACGGTTTTAC	A	G99881314T	AGL	NM_000642.3(AGL):c.2024_2033del:p.Arg675fs	coding	Pathogenic
1	99881432	CA	C	A99881434G	AGL	NM_000642.3(AGL):c.2144del:p.Lys715fs	coding	Pathogenic
1	99884359	TAAAC	T	A99884362G	AGL	NM_000642.3(AGL):c.2457_2460del:p.Gln820fs	coding	Pathogenic/Likely_pathogenic
1	99884690	AT	A	T99884692C	AGL	NM_000642.3(AGL):c.2670del:p.Pro891fs	coding	Pathogenic
1	99888009	AATCAG	A	A99888013C	AGL	NM_000642.3(AGL):c.2717_2721del:p.Gln906fs	coding	Pathogenic
1	99891229	C	CT	G99891231T	AGL	NM_000642.3(AGL):c.2823dup:p.Val942fs	coding	Pathogenic
1	99891311	C	CT	A99891313T	AGL	NM_000642.3(AGL):c.2905dup:p.Tyr969fs	coding	Pathogenic
1	99891664	TC	T	C99891667A	AGL	NM_000642.3(AGL):c.3011del:p.Pro1004fs	coding	Pathogenic/Likely_pathogenic
1	99891669	TG	T	G99891670T	AGL	NM_000642.3(AGL):c.3014del:p.Cys1005fs	coding	Pathogenic
1	99892549	TTA	T	T99892552G	AGL	NM_000642.3(AGL):c.3202_3203TA[1]:p.Tyr1068_Arg1069delinsTer	coding	Pathogenic
1	99892561	TGA	T	G99892564T	AGL	NM_000642.3(AGL):c.3214_3215GA[1]:p.Glu1072fs	coding	Pathogenic
1	99900713	GA	G	A99900714T	AGL	NM_000642.3(AGL):c.3441del:p.Arg1147fs	coding	Pathogenic
1	99900751	TGTATCCAGGATTACTGTAAAATGGTTCCAAATGGTCTAGACATTCTCAAGTGCCCAGTTTCCAGAATGTATCCTACAGATGATTCTGCTCCTTTGCCTGCTGGCACACTGGTAAAGATATTTCTTAAAATGTTTTTTTGTTTTTTTTTTTTTTTCTGAAAAATGACTTTTAGTTTCTAATGTAAAAATAAGGGTAATTAAGAATCCAAATCTTACGAATTATTCAAATGTCAGTATTGATTTGGCACCTGCTGGTACTATAAGTGATTGGTCTTTGCCTGAAGAACTTTGCAACATGGTAGAAGAGATGATGATGTGTACATAAATATGGCCATTGCAATAGATTGTAGAGGAAGTGTTGTGTAGTCTCTTAAAAGAGAGAGAAGGTCCAGTAGGTAGGTCTCAGGGAGAACGTTAGAAAGTAGCTAAAGTTTCACCTAAATGAGCCATAAAAGGTGAGTAGGACTTTCGGAGAGATGGAGAAAGTTGTTGGGAGACATTAGAGTTGAAAAGAAGCCAGGTGTATGGCACACACCTGTAATCTCAGCTTCTCAGGAGGCTGAGGCAGAAGGATCACTTGAGGCCAGGAGTATGAGTCCAGCCTAGGCAACATAGCAAAACTCAGTCTCTTTAAAAAAAAAAAAAAAAAAAAAAAGAGGAAAGGAATAATAGGGTTGCATAGTGGATTGAAGCACAGTTTAGGGGACATAGTACTTAATAGTGTTTTTGTAAGAGCCTAGGCTCTTATAAAATACGTTTTGTGAAAAAGTCAATATGGTTTGGCTTTTTGTGTAGGATACCTGCAGGGTAGTAAGAGATTATGGAAAGGGTGAGCCAGGTTATGGAGAGCCTTGACTACCAATCCAGGGAGCTTAAAGATTATCTTATGAACAGTGAAGAATGGATAGACATTTTTGAGTGTTTTTTTTTCCCTAATCAAGAATGGACAATAATACTATACTTTTGCCACTTCTGATCTGCCTTTATGTTAATAGTTTGTTATATATGATTGGGGGGGCTGGGAGGGGATAGTAGCTTTGTAAGCTACTCCAGGGTTAGCATATATTTGTGTTCTCATGATATTTATTTATATCATGAAGTACTCAACATTTGTCCAAAATTTTTTTATTTGTCCTCTGTTATCAACTGACATTTCTGTTACAATGAATATAGGTTCATGCTATCAGGCAGGTAATTATTTTACACATAACTTTGTTTTCTCACAGTTTATCCAAAAATATTCACAGCATTATAATTTTTATAATTAATAGTAGAATTTTTATATTATAGAGTTTTGGTTATATTCAGAGTCTTTAAAATGAAACATAATAAACATGTAAGGACTCTAAACATTTTGCTTCTATTTAACATTCTTTACCTTATTTTTAAAAATATAATTGTATATTTTCCCAAATGTCATCCTGAGTATCACATTTATTATTTATATGGGTAAAGAAAATGACTTATGAATTCTTTACATTCACTGGGGTATTTTCCAAAGTCATTATGGATCCTCAAATTTGAGA	T	A99900754T	AGL	NM_000642.3(AGL):c.3481_3589-405del	coding	Pathogenic
1	99900753	TATCCAGGATTACTGTAAAATGGTTCCAAATGGTCTAGACATTCTCAAGTGCCCAGTTTCCAGAATGTATCCTACAGATGATTCTGCTCCTTTGCCTGCTGGCACACTGGTAAAGATATTTCTTAAAATGTTTTTTTGTTTTTTTTTTTTTTTCTGAAAAATGACTTTTAGTTTCTAATGTAAAAATAAGGGTAATTAAGAATCCAAATCTTACGAATTATTCAAATGTCAGTATTGATTTGGCACCTGCTGGTACTATAAGTGATTGGTCTTTGCCTGAAGAACTTTGCAACATGGTAGAAGAGATGATGATGTGTACATAAATATGGCCATTGCAATAGATTGTAGAGGAAGTGTTGTGTAGTCTCTTAAAAGAGAGAGAAGGTCCAGTAGGTAGGTCTCAGGGAGAACGTTAGAAAGTAGCTAAAGTTTCACCTAAATGAGCCATAAAAGGTGAGTAGGACTTTCGGAGAGATGGAGAAAGTTGTTGGGAGACATTAGAGTTGAAAAGAAGCCAGGTGTATGGCACACACCTGTAATCTCAGCTTCTCAGGAGGCTGAGGCAGAAGGATCACTTGAGGCCAGGAGTATGAGTCCAGCCTAGGCAACATAGCAAAACTCAGTCTCTTTAAAAAAAAAAAAAAAAAAAAAAAGAGGAAAGGAATAATAGGGTTGCATAGTGGATTGAAGCACAGTTTAGGGGACATAGTACTTAATAGTGTTTTTGTAAGAGCCTAGGCTCTTATAAAATACGTTTTGTGAAAAAGTCAATATGGTTTGGCTTTTTGTGTAGGATACCTGCAGGGTAGTAAGAGATTATGGAAAGGGTGAGCCAGGTTATGGAGAGCCTTGACTACCAATCCAGGGAGCTTAAAGATTATCTTATGAACAGTGAAGAATGGATAGACATTTTTGAGTGTTTTTTTTTCCCTAATCAAGAATGGACAATAATACTATACTTTTGCCACTTCTGATCTGCCTTTATGTTAATAGTTTGTTATATATGATTGGGGGGGCTGGGAGGGGATAGTAGCTTTGTAAGCTACTCCAGGGTTAGCATATATTTGTGTTCTCATGATATTTATTTATATCATGAAGTACTCAACATTTGTCCAAAATTTTTTTATTTGTCCTCTGTTATCAACTGACATTTCTGTTACAATGAATATAGGTTCATGCTATCAGGCAGGTAATTATTTTACACATAACTTTGTTTTCTCACAGTTTATCCAAAAATATTCACAGCATTATAATTTTTATAATTAATAGTAGAATTTTTATATTATAGAGTTTTGGTTATATTCAGAGTCTTTAAAATGAAACATAATAAACATGTAAGGACTCTAAACATTTTGCTTCTATTTAACATTCTTTACCTTATTTTTAAAAATATAATTGTATATTTTCCCAAATGTCATCCTGAGTATCACATTTATTATTTATATGGGTAAAGAAAATGACTTATGAATTCTTTACATTCACTGGGGTATTTTCCAAAGTCATTATGGATCCTCAAATTTGAGA	T	A99900754G	AGL	NM_000642.3(AGL):c.3481_3589-407del	coding	Pathogenic
1	99900826	AC	A	C99900827A	AGL	NM_000642.3(AGL):c.3554del:p.Thr1185fs	coding	Pathogenic/Likely_pathogenic
1	99910757	A	AT	G99910759T	AGL	NM_000642.3(AGL):c.3747dup:p.Gly1250fs	coding	Pathogenic
1	99912471	C	CA	T99912480A	AGL	NM_000642.3(AGL):c.3911dup:p.Asn1304fs	coding	Pathogenic
1	99913541	GT	G	T99913542C	AGL	NM_000642.3(AGL):c.3965del:p.Val1322fs	coding	Pathogenic
1	99915421	GA	G	A99915424G	AGL	NM_000642.3(AGL):c.4197del:p.Ala1400fs	coding	Pathogenic/Likely_pathogenic
1	99915440	GA	G	A99915448T	AGL	NM_000642.3(AGL):c.4221del:p.Lys1407fs	coding	Pathogenic
1	99915440	G	GA	T99915449A	AGL	NM_000642.3(AGL):c.4221dup:p.Leu1408fs	coding	Pathogenic/Likely_pathogenic
1	99916417	G	GT	A99916421T	AGL	NM_000642.3(AGL):c.4270dup:p.Tyr1424fs	coding	Pathogenic
1	99916470	T	TAA	G99916474A	AGL	NM_000642.3(AGL):c.4322_4323dup:p.Gly1442fs	coding	Pathogenic/Likely_pathogenic
1	99916633	A	AAAATT	T99916640A	AGL	NM_000642.3(AGL):c.4385_4389dup:p.Tyr1464fs	coding	Pathogenic
1	99916671	CT	C	T99916672G	AGL	NM_000642.3(AGL):c.4422del:p.Ala1475fs	coding	Pathogenic/Likely_pathogenic
1	99916703	CT	C	T99916706C	AGL	NM_000642.3(AGL):c.4456del:p.Ser1486fs	coding	Pathogenic
1	99921580	T	TA	C99921582A	AGL	NM_000642.3(AGL):c.4529dup:p.Tyr1510Ter	coding	Pathogenic/Likely_pathogenic
1	100011534	G	GT	A100011536T	SLC35A3	NM_012243.3(SLC35A3):c.634+2dup	noncoding	Pathogenic
1	100015346	G	GA	T100015348A	SLC35A3	NM_012243.3(SLC35A3):c.680dup:p.Asp227fs	coding	Pathogenic
1	100017688	G	GGA	G100017692A	SLC35A3	NM_012243.3(SLC35A3):c.762_763dup:p.Gly255fs	coding	Pathogenic
1	100107513	G	GT	C100107518T	SASS6	NM_194292.3(SASS6):c.1186dup:p.Thr396fs	coding	Pathogenic
1	100196430	TGAAAAA	T	G100196431A	DBT	NM_001918.4(DBT):c.1282-14_1282-9del	noncoding	Benign
1	100196431	G	GAAAAAAAAAAAAAAA	G100196460A	DBT	NM_001918.4(DBT):c.1282-37_1282-23dup	noncoding	Benign
1	100196431	G	GAAAAAAAAAAAAAA	G100196460A	DBT	NM_001918.4(DBT):c.1282-37_1282-24dup	noncoding	Benign
1	100196431	G	GAAAAAA	G100196460A	DBT	NM_001918.4(DBT):c.1282-37_1282-32dup	noncoding	Benign
1	100196431	G	GAAAAA	G100196460A	DBT	NM_001918.4(DBT):c.1282-37_1282-33dup	noncoding	Benign
1	100196431	G	GAAAA	G100196460A	DBT	NM_001918.4(DBT):c.1282-37_1282-34dup	noncoding	Benign
1	100206304	AT	A	T100206310A	DBT	NM_001918.4(DBT):c.1210-4del	noncoding	Benign
1	100206309	T	TA	T100206310A	DBT	NM_001918.4(DBT):c.1210-9_1210-8insT	noncoding	Benign
1	100206309	TTA	T	T100206310A	DBT	NM_001918.4(DBT):c.1210-10_1210-9del	noncoding	Benign
1	100206310	TA	T	A100206323G	DBT	NM_001918.4(DBT):c.1210-10del	noncoding	Benign
1	100206571	A	AT	C100206577T	DBT	NM_001918.4(DBT):c.1082dup:p.Asn361fs	coding	Pathogenic
1	100210692	AC	A	C100210694T	DBT	NM_001918.4(DBT):c.1017+1del	noncoding	Pathogenic
1	100214857	GC	G	C100214858A	DBT	NM_001918.4(DBT):c.898del:p.Ala300fs	coding	Pathogenic
1	100216084	TCAACTTTG	T	C100216085G	DBT	NM_001918.4(DBT):c.663_670del:p.Lys222fs	coding	Pathogenic
1	100218691	GGT	G	G100218696A	DBT	NM_001918.5(DBT):c.488_489del:p.His163fs	coding	Pathogenic
1	100218750	GGTAACAAGGTAA	G	G100218751A	DBT	NM_001918.4(DBT):c.434-15_434-4del	noncoding	Pathogenic
1	100230805	GT	G	T100230811A	DBT	NM_001918.4(DBT):c.360del:p.Lys120fs	coding	Pathogenic
1	100230820	CATCATAA	C	A100230821C	DBT	NM_001918.4(DBT):c.339_345del:p.Tyr114fs	coding	Pathogenic
1	100230890	CACTG	C	A100230891T	DBT	NM_001918.4(DBT):c.272_275del:p.Thr91fs	coding	Pathogenic
1	100230904	CT	C	T100230908A	DBT	NM_001918.4(DBT):c.261del:p.Glu88fs	coding	Pathogenic
1	100235416	C	CT	C100235423T	DBT	NM_001918.4(DBT):c.251+14dup	noncoding	Benign/Likely_benign
1	100240859	CAT	C	A100240860G	DBT	NM_001918.4(DBT):c.75_76del:p.Cys26fs	coding	Pathogenic/Likely_pathogenic
1	100424287	CT	C	T100424288A	CDC14A	NM_003672.4(CDC14A):c.376del:p.Tyr126fs	coding	Pathogenic
1	100498136	GGC	G	G100498137A	CDC14A	NM_003672.4(CDC14A):c.1351_1352del:p.Ala451fs	coding	Pathogenic
1	100912217	CA	AG	C100912217A	SLC30A7	NM_133496.5(SLC30A7):c.490_491delinsAG:p.His164Ser	coding	Pathogenic
1	102890516	CA	C	A102890526C	COL11A1	NM_001854.4(COL11A1):c.4303-13del	noncoding	Benign
1	102914823	TA	T	A102914836G	COL11A1	NM_001854.4(COL11A1):c.3817-13del	noncoding	Benign
1	102914823	T	TA	G102914837A	COL11A1	NM_001854.4(COL11A1):c.3817-25dup	noncoding	Benign
1	102914827	A	AG	A102914828G	COL11A1	NM_001854.4(COL11A1):c.3817-17_3817-16insC	noncoding	Benign
1	102939031	TCA	T	C102939034T	COL11A1	NM_001854.4(COL11A1):c.3438+2_3438+3del	noncoding	Pathogenic
1	102961853	TCATCATACTTA	T	T102961856A	COL11A1	NM_001854.4(COL11A1):c.3168+2_3168+12del	noncoding	Pathogenic
1	102974860	TGGACCCTGAGGTCCTTGA	T	A102974869G	COL11A1	NM_080629.2(COL11A1):c.2796_2813delTCAAGGACCTCAGGGTCC	coding	Pathogenic
1	102983844	TC	T	C102983845T	COL11A1	NM_001854.4(COL11A1):c.2556+293del	noncoding	Benign
1	102995850	CAATTA	C	A102995855T	COL11A1	NM_001854.4(COL11A1):c.2340+9_2340+13del	noncoding	Benign
1	102998372	G	GA	T102998383A	COL11A1	NM_080629.2(COL11A1):c.2179-10dupT	noncoding	Benign
1	103005900	CCATCAT	C	T103005927C	COL11A1	NM_001854.4(COL11A1):c.1792-39ATG[8]	noncoding	Benign
1	103005900	CCAT	C	T103005930C	COL11A1	NM_001854.4(COL11A1):c.1792-39ATG[9]	noncoding	Benign/Likely_benign
1	103006072	G	GC	A103006077C	COL11A1	NM_001854.4(COL11A1):c.1786dup:p.Ala596fs	coding	Pathogenic
1	103008517	CT	C	T103008518A	COL11A1	NM_001854.4(COL11A1):c.1630-2del	noncoding	Pathogenic
1	103031249	GAA	G	A103031261C	COL11A1	NM_001854.4(COL11A1):c.652-7_652-6del	noncoding	Benign
1	103031249	GA	G	A103031262C	COL11A1	NM_001854.4(COL11A1):c.652-6del	noncoding	Benign
1	108898026	GC	G	C108898029T	GPSM2	NM_013296.5(GPSM2):c.485del:p.Pro162fs	coding	Pathogenic
1	108898937	AC	A	C108898939T	GPSM2	NM_013296.5(GPSM2):c.742del:p.Gly249fs	coding	Pathogenic/Likely_pathogenic
1	108922446	AG	A	G108922449T	GPSM2	NM_013296.5(GPSM2):c.1473del:p.Phe492fs	coding	Pathogenic
1	108922519	AACTGCCAT	A	T108922522A	GPSM2	NM_013296.5(GPSM2):c.1546_1553del:p.Cys516fs	coding	Pathogenic
1	108922534	TCAA	T	A108922542T	GPSM2	NM_013296.5(GPSM2):c.1560_1562AAC[2]:p.Thr523del	coding	Benign/Likely_benign
1	108922543	ACTT	A	T108922548C	GPSM2	NM_013296.5(GPSM2):c.1569_1571TTC[1]:p.Ser525del	coding	Benign/Likely_benign
1	108922574	AAAGT	A	A108922579C	GPSM2	NM_013296.5(GPSM2):c.1600+3_1600+6del	coding	Pathogenic
1	109250113	A	ACGC	T109250129C	CELSR2	NM_001408.3(CELSR2):c.35_37CGC[6]:p.Pro16dup	coding	Benign
1	109603463	AT	A	T109603466C	GNAT2	NM_005272.4(GNAT2):c.955del:p.Ile319fs	coding	Pathogenic
1	109604018	G	GTTGA	G109604023T	GNAT2	NM_005272.4(GNAT2):c.803_806dup:p.Lys270fs	coding	Pathogenic
1	109606394	G	GA	G109606396A	GNAT2	NM_005272.4(GNAT2):c.503dup:p.Pro169_Ser170insTer	coding	Pathogenic
1	109607656	AAATTGTGGTGTATTATGAAAAATATTCAGCTTTGTAGTCAAGCAGCCCAATGCAAATGCAGTCTCTGCTATTTATCTACATGACCTTGGGCAGTTAATTAACTTCTCTGAACTTCAGTTTTTCCATGTGTAAAATGAGGCTAATTAGAAAGGTACCATCTACCTTAAGGTCTTACTGCGTAGATGGGTAAAGGGCGTTGAGATGGTATACACAGTACACCTAGCAGTGACTGGGCTTTGAGTGCTCCGGGAACAGTAAGTGATAGCATTATTACAAGATTAGGAGACAGATGGTTAGGTTAAATAAACTCAGGTTTGACTTTGAAGCCCATACTTGTCTATGATCCCATACTGTCTGAGGTAGGATTGATAAATTATGTCCCTTAGCTTTTTGGAAGCAGCTTTGCAATGATGGTACTAATTCCTGACCACCTTCCCTTGGTTTGCCCTTGTAGTTTGTGTCCCCTGCCTTGGCATCGTGACATAAGATGCTCTAGGTGTAGGAGACTCATTTCTGCTTAGTGGCCTAAGTAGATCCTAGATTACCAGATAGAAAATTCTGCCCTGAAAGAGCCATCATGAATCACATTACTCCTGCGAGAGTGTATGACAGAACTGCAGGGCTATCTTAGGGTTCTGGAAGGAGAGGCTTAGTGTACACCTCAATTAAGAGAACAGGGCTGAGGGCTACTAGGCAGAACACGTCTTTTGAATTTTGCATCTTCAGCCTTGTAGGCTGTAGTGAGCCAGTGTAAAGCAATAGAAAGTCATGACAACTGTGGCAGATCTCCCCATAGCATTAAATTCAAAACATTGCTGAAGCCTAACAAAACAGATCCACAGGCTGAATTCAGTCTGGGTCTCCAGCTTTCAATGCCTGAAATTTTGGGTTGGGTGAGGTTTCTCCCAACCAGAGAGAAGACTGGCTAGAAGATTGCTTAAGCATCAACCCACCCTCTCACCAGTCAGTCTTACTAAGATGCGGAGTCATTAAGCTGGTATTCTGCAGCTCTCTCGAAGCAGGCTTGCACCCCACCATCCTTCCACAACCTCCTAATGACCTCCACGAGCTCAGGAGGCATGGTTCCCTCCTCAATGGAGTCAGCCAGGTTGTTGAGCTGTCGCCCGTCATCCTGTAATGCAGAAACCTGGTTAAGAACTTCACAGGAGTAATAGCTTTCCAGGAGGCTTCTGGGAATACTGCTGAATGGAAATCATTTTACATTACTACGAAGACCTAAGATGGAAGCAGTATCCAGTGAAGATTCTATGTAAGAAAACATACTGTTGAATTTTTGAGTATGCTCCCCAGATGCAGAGGGTGGCACTATACCCAGCCCTGGGGTGTGTCTAAAGCGGGGCAGGGGTCCCAGGTATTTCCTCTCTGGAGTTTCTGGCTTCCATCCTTAGTCTGAAAGTTTACCGCCACAAAACGTGGGTCCTCTGCTGCAGAGAGACTGAAAATGTAAAGGCCAGATTGACCATGAAATAGACAAGATAGAAGACAGGGACCCATCACCTTTGTTCTTCAGCGATTGAAAGCTAGAAAAAGTCCAGTACTAGAAGTAGGGATTTCACTTACAAAAGTTCCATGGCCAGGAACCCAAGGGTAGCAATTTAAATGGTAAAGTAAAAAAGCAGAGGAAGCTGTGAGCAGCTTTATTTTGTAAATATGTGTTATAAAGTAGGGCTTGAGGACAGGCACGGTGGCTCACACCTGTAATCTCAACACTTTCGGAGTCTGAGGCAGGAGGATTGCTTAAGGCCAGGAGTTTGACACCAGCCTAGACAAGATGGCAAGACCCCTTCTCTACAAAAAAATTTTAAAAAATAGCTGGGTGTGGTGGTGCACACCTGTGGTCCCACCTACTGGGGCTGAGGTGGGAGAATCACTTAAGCCTGGGAGGGTGAGATTGCAGTGAGCCATGATCACACCACTGCATTCCAGCCTGGGTAAGAGAGGAAGACCCTGTCCCAGTAAAAATAAGGGTGGATGTTGCTTACTTCTCCAGGACTGCAT	A	A109607813G	GNAT2	NM_005272.4(GNAT2):c.303+365_461+974del	noncoding	Pathogenic
1	109610052	TTCAGCA	ATACAG	T109610052A	GNAT2	NM_005272.4(GNAT2):c.285_291delinsCTGTAT:p.Ala96fs	coding	Pathogenic
1	109625342	CCCGAT	C	G109625345C	AMPD2	NM_001368809.2(AMPD2):c.134_138del:p.Arg45fs	coding	Pathogenic
1	109625367	CT	C	T109625368G	AMPD2	NM_001368809.2(AMPD2):c.157del:p.Cys53fs	coding	Pathogenic
1	109628724	TG	T	G109628727A	AMPD2	NM_001368809.2(AMPD2):c.1492del:p.Asp498fs	coding	Pathogenic
1	110064599	CTCAG	C	T110064604G	ALX3	NM_006492.3(ALX3):c.574_577CTGA[1]:p.Thr193fs	coding	Pathogenic
1	110604192	AC	A	C110604194A	KCNA2	NM_004974.4(KCNA2):c.590del:p.Gly197fs	coding	Pathogenic
1	111124855	TATAACGAAC	T	C111124860A	DRAM2	NM_178454.5(DRAM2):c.217_225del:p.Val73_Tyr75del	coding	Pathogenic
1	111126285	AC	A	C111126287A	DRAM2	NM_178454.5(DRAM2):c.140del:p.Gly47fs	coding	Pathogenic
1	111131488	AAGC	A	C111131494A	DRAM2	NM_178454.5(DRAM2):c.61_63GCT[1]:p.Ala22del	coding	Pathogenic
1	111319160	A	ATGCCCCTCAGGAAG	T111319179C	CHIA	NM_201653.4(CHIA):c.961_974dup:p.Tyr326fs	coding	Benign
1	111414901	G	GGGTCAGGGTCTTCTGTCCAGT	C111414907G	OVGP1	NM_002557.4(OVGP1):c.1599_1600insACTGGACAGAAGACCCTGACC:p.Pro534_Val535insThrGlyGlnLysThrLeuThr	coding	Benign
1	111414925	GGGTCAGGGTCTTTTCCCCAGGGGTCACAGACTGATAACCCACAGA	G	T111414938C	OVGP1	NM_002557.4(OVGP1):c.1531_1575del:p.Ser511_Thr525del	coding	Benign
1	111982044	CAGA	C	A111982050G	KCND3	NM_172198.2(KCND3):c.677_679TCT[1]:p.Phe227del	coding	Pathogenic
1	112917655	GATTA	G	A112917659G	SLC16A1	NM_003051.3(SLC16A1):c.747_750del:p.Asn250fs	coding	Pathogenic
1	112917906	AC	A	C112917908T	SLC16A1	NM_003051.3(SLC16A1):c.499del:p.Val167fs	coding	Pathogenic
1	112917915	A	AG	C112917922G	SLC16A1	NM_003051.3(SLC16A1):c.490dup:p.Leu164fs	coding	Pathogenic
1	112922132	AC	A	C112922134T	SLC16A1	NM_003051.3(SLC16A1):c.218delG	coding	Pathogenic
1	112956232	C	CG	C112956237G	SLC16A1	NM_003051.3(SLC16A1):c.-243dup	noncoding	Benign/Likely_benign
1	112956380	C	CCCCCACCCCGCCACGTGACCGGCGT	T112956381C	SLC16A1	NM_003051.3(SLC16A1):c.-391_-390insACGCCGGTCACGTGGCGGGGTGGGG	noncoding	Pathogenic
1	113100266	GA	G	A113100268T	LRIG2	NM_014813.3(LRIG2):c.1230del:p.Glu410fs	coding	Pathogenic
1	113114431	AC	A	C113114434T	LRIG2	NM_014813.3(LRIG2):c.2088del:p.Ser697fs	coding	Pathogenic
1	113116443	ACT	A	C113116446G	LRIG2	NM_014813.3(LRIG2):c.2680+10_2680+11del	noncoding	Benign
1	113829710	TAA	T	A113829721G	PTPN22	NM_015967.7(PTPN22):c.2135-5_2135-4del	noncoding	Benign
1	113829710	TA	T	A113829722G	PTPN22	NM_015967.7(PTPN22):c.2135-4del	noncoding	Benign
1	113896264	AGTAATACAACAAAC	A	A113896267C	AP4B1	NM_001253852.3(AP4B1):c.1490_1503del:p.Arg497fs	coding	Pathogenic
1	113898754	CTG	C	G113898756T	AP4B1	NM_001253852.3(AP4B1):c.1160_1161del:p.Thr387fs	coding	Pathogenic/Likely_pathogenic
1	113900353	AG	A	G113900354A	AP4B1	NM_001253852.3(AP4B1):c.664del:p.Leu222fs	coding	Pathogenic
1	113901322	C	CT	A113901323T	AP4B1	NM_001253852.3(AP4B1):c.530_531insA:p.Asn178fs	coding	Pathogenic
1	113901814	CTGACA	C	G113901816A	AP4B1	NM_001253852.3(AP4B1):c.405_409del:p.Tyr135_Arg137delinsTer	coding	Pathogenic
1	113902662	GC	G	C113902664A	AP4B1	NM_001253852.3(AP4B1):c.313del:p.Ala105fs	coding	Pathogenic
1	113902664	CA	G	C113902664G	AP4B1	NM_001253852.3(AP4B1):c.311_312delinsC:p.Leu104fs	coding	Pathogenic
1	114695466	AG	A	G114695468C	AMPD1	NM_000036.2(AMPD1):c.104del:p.Pro35fs	coding	Benign
1	114713907	TT	CA	T114713907C	NRAS	NM_002524.5(NRAS):c.182_183delinsTG:p.Gln61Leu	coding	Pathogenic
1	114713907	TT	CC	T114713907C	NRAS	NM_002524.5(NRAS):c.182_183delinsGG:p.Gln61Arg	coding	Pathogenic
1	114713976	A	ATCC	G114713981C	NRAS	NM_002524.5(NRAS):c.112-1_113dup	coding	Pathogenic
1	114713997	A	AG	C114714003G	NRAS	NM_002524.5(NRAS):c.112-24dup	noncoding	Benign/Likely_benign
1	115034182	CT	C	T115034183G	TSHB	NM_000549.5(TSHB):c.373del:p.Cys125fs	coding	Pathogenic/Likely_pathogenic
1	115701423	C	CA	G115701425A	CASQ2	NM_001232.3(CASQ2):c.1017dup:p.Asp340Ter	coding	Pathogenic
1	115725557	GAAAAAAAA	G	A115725573G	CASQ2	NM_001232.3(CASQ2):c.738-12_738-5del	noncoding	Benign
1	115725557	GAAAAAA	G	A115725575G	CASQ2	NM_001232.4(CASQ2):c.738-10_738-5del	noncoding	Benign
1	115725557	GAAAAA	G	A115725576G	CASQ2	NM_001232.4(CASQ2):c.738-9_738-5del	noncoding	Benign
1	115725557	GAAAA	G	A115725577G	CASQ2	NM_001232.3(CASQ2):c.738-8_738-5del	noncoding	Benign/Likely_benign
1	115725557	GAAA	G	A115725578G	CASQ2	NM_001232.3(CASQ2):c.738-7_738-5del	noncoding	Benign
1	115725557	GAA	G	A115725579G	CASQ2	NM_001232.3(CASQ2):c.738-6_738-5del	noncoding	Benign
1	115725557	GA	G	A115725580G	CASQ2	NM_001232.3(CASQ2):c.738-5del	noncoding	Benign
1	115740793	CCTTAAGAATATACAGG	C	A115740797C	CASQ2	NM_001232.3(CASQ2):c.339_354del:p.Ser113fs	coding	Pathogenic
1	115768328	GT	G	T115768330G	CASQ2	NM_001232.3(CASQ2):c.213del:p.Gln71fs	coding	Pathogenic
1	115768337	GT	G	T115768342G	CASQ2	NM_001232.3(CASQ2):c.204del:p.Lys68fs	coding	Pathogenic
1	115768479	CT	C	T115768480C	CASQ2	NM_001232.3(CASQ2):c.62del:p.Glu21fs	coding	Pathogenic
1	116387400	GGTTCTCAATGTTACT	G	T116387403G	ATP1A1	NM_000701.8(ATP1A1):c.299_313del:p.Phe100_Leu104del	coding	Pathogenic
1	116579790	CG	C	G116579793A	IGSF3	NM_001007237.3(IGSF3):c.2935del:p.Arg979fs	coding	Pathogenic
1	117878149	A	AC	A117878151C	GDAP2	NM_017686.4(GDAP2):c.1305dup:p.Ser436fs	coding	Pathogenic
1	117883536	T	TC	G117883537C	GDAP2	NM_017686.4(GDAP2):c.1198_1199insG:p.His400fs	coding	Pathogenic
1	119076372	CT	C	T119076378C	WARS2	NM_015836.3(WARS2):c.325del:p.Ser109fs	coding	Pathogenic
1	119422056	A	AC	A119422060C	HSD3B2	NM_000198.4(HSD3B2):c.558dup:p.Thr187fs	coding	Pathogenic
1	119422317	CAA	C	A119422319G	HSD3B2	NM_000198.4(HSD3B2):c.818_819del:p.Lys273fs	coding	Pathogenic
1	119422367	TG	T	G119422368A	HSD3B2	NM_000198.4(HSD3B2):c.867del:p.Met290fs	coding	Pathogenic
1	119712161	G	GT	A119712163T	PHGDH	NM_006623.4(PHGDH):c.138+2dup	noncoding	Pathogenic
1	119735309	AAC	A	A119735312C	PHGDH	NM_006623.4(PHGDH):c.661_662del:p.Thr221fs	coding	Pathogenic
1	119735362	AG	A	G119735365A	PHGDH	NM_006623.4(PHGDH):c.714del:p.Ile239fs	coding	Pathogenic
1	119740393	CCCAGGCCCTTA	C	G119740398T	PHGDH	NM_006623.4(PHGDH):c.958_968del:p.Ala320fs	coding	Pathogenic
1	119755598	CT	C	T119755599G	HMGCS2	NM_001166107.1(HMGCS2):c.891-2del	noncoding	Pathogenic
1	119759195	GA	G	A119759198G	HMGCS2	NM_001166107.1(HMGCS2):c.646del:p.Ser216fs	coding	Pathogenic
1	119764549	A	ATTGGCCTCCAGGGCCATATTGG	C119764550T	HMGCS2	NM_005518.4(HMGCS2):c.181_182insCCAATATGGCCCTGGAGGCCAA:p.Val61fs	coding	Pathogenic
1	119915631	TG	T	G119915632C	NOTCH2	NM_024408.4(NOTCH2):c.7090del:p.Gln2364fs	coding	Pathogenic
1	119915812	TG	T	G119915818C	NOTCH2	NM_024408.4(NOTCH2):c.6909del:p.Ile2304fs	coding	Pathogenic
1	119915812	T	TG	C119915819G	NOTCH2	NM_024408.4(NOTCH2):c.6909dup:p.Ile2304fs	coding	Pathogenic
1	119915844	TG	T	G119915845C	NOTCH2	NM_024408.4(NOTCH2):c.6877del:p.His2293fs	coding	Pathogenic
1	119916218	TG	T	G119916220A	NOTCH2	NM_024408.4(NOTCH2):c.6503del:p.Pro2168fs	coding	Pathogenic
1	119916271	CAG	C	A119916272G	NOTCH2	NM_024408.4(NOTCH2):c.6449_6450del:p.Pro2150fs	coding	Pathogenic
1	119916294	TCAGA	T	A119916298T	NOTCH2	NM_024408.4(NOTCH2):c.6424_6427del:p.Ser2142fs	coding	Pathogenic
1	119916295	C	CAA	G119916297A	NOTCH2	NM_024408.4(NOTCH2):c.6426_6427insTT:p.Glu2143fs	coding	Pathogenic
1	119916317	CAG	C	G119916321C	NOTCH2	NM_024408.4(NOTCH2):c.6403_6404del:p.Leu2135fs	coding	Pathogenic
1	119916449	GA	G	A119916452G	NOTCH2	NM_024408.4(NOTCH2):c.6272del:p.Phe2091fs	coding	Pathogenic
1	119917707	CAA	C	A119917710G	NOTCH2	NM_024408.4(NOTCH2):c.5983_5984del:p.Leu1995fs	coding	Pathogenic
1	119918491	CA	C	A119918492G	NOTCH2	NM_024408.4(NOTCH2):c.5843del:p.Leu1948fs	coding	Pathogenic
1	119919428	G	GT	G119919430T	NOTCH2	NM_024408.4(NOTCH2):c.5664dup:p.Arg1889fs	coding	Pathogenic
1	119920362	GT	G	T119920363C	NOTCH2	NM_024408.4(NOTCH2):c.5345del:p.Asp1782fs	coding	Pathogenic
1	119925358	CG	C	G119925359T	NOTCH2	NM_024408.4(NOTCH2):c.4457del:p.Thr1486fs	coding	Pathogenic
1	119937388	A	AG	C119937394G	NOTCH2	NM_024408.4(NOTCH2):c.3415dup:p.Leu1139fs	coding	Pathogenic
1	119937947	C	CT	C119937954T	NOTCH2	NM_024408.4(NOTCH2):c.3246dup:p.Ala1083fs	coding	Pathogenic
1	119963653	G	GT	A119963655T	NOTCH2	NM_024408.4(NOTCH2):c.1835dup:p.Tyr612Ter	coding	Pathogenic
1	119969597	T	TC	A119969599C	NOTCH2	NM_024408.4(NOTCH2):c.1021dup:p.Asp341fs	coding	Pathogenic
1	120069388	CGG	C	G120069391C	NOTCH2	NM_024408.4(NOTCH2):c.17_18del:p.Pro6fs	coding	Benign
1	145926616	C	CCGCT	A145926617C	RBM8A	NM_005105.5(RBM8A):c.207_208insAGCG:p.Val70fs	coding	Pathogenic
1	145926802	TACTC	T	T145926805A	RBM8A	NM_005105.5(RBM8A):c.205+3_205+6del	noncoding	Pathogenic
1	146018372	CGAGA	C	A146018376T	HJV	NM_145277.5(HJV):c.641_642TC[1]:p.Ser215fs	coding	Pathogenic
1	146018660	TG	T	G146018661A	HJV	NM_145277.5(HJV):c.358del:p.Gln120fs	coding	Pathogenic
1	146019177	TC	T	C146019179G	HJV	NM_213653.4(HJV):c.654del:p.Lys219fs	coding	Pathogenic
1	146019611	AC	A	C146019615T	HJV	NM_213653.3(HJV):c.220del:p.Val74fs	coding	Pathogenic
1	147259832	C	CA	C147259834A	CHD1L	NM_004284.6(CHD1L):c.495-4dup	noncoding	Benign
1	147285397	GA	G	A147285398C	CHD1L	NM_004284.6(CHD1L):c.1929del:p.Arg643fs	coding	Pathogenic
1	147908040	C	CT	C147908045T	GJA8	NM_005267.5(GJA8):c.89dup:p.Ile31fs	coding	Pathogenic
1	147909270	G	GA	C147909284A	GJA8	NM_005267.4(GJA8):c.*26dup	noncoding	Benign
1	148960636	TTTGCCGTTTCTTCC	T	T148960638A	PDE4DIP	NM_014644.5(PDE4DIP):c.637-16_637-3del	noncoding	Benign
1	148960744	GA	G	A148960746C	PDE4DIP	NM_014644.5(PDE4DIP):c.729del:p.Glu243fs	coding	Benign
1	149791461	AAAG	A	G149791467C	FCGR1A	NM_001161334.1(H2BC18):c.378-8204_378-8202del	coding	Benign
1	149923558	CCTCGAAG	C	C149923559T	SF3B4	NM_005850.5(SF3B4):c.1252_1258del:p.Leu418fs	coding	Pathogenic
1	149923567	GGGCCTCGAGGGGGAACTGGT	G	T149923572G	SF3B4	NM_005850.5(SF3B4):c.1230_1249del:p.Pro411fs	coding	Pathogenic
1	149923584	TG	T	G149923586T	SF3B4	NM_005850.5(SF3B4):c.1232del:p.Pro411fs	coding	Pathogenic
1	149923617	AG	A	G149923619C	SF3B4	NM_005850.5(SF3B4):c.1199del:p.Pro400fs	coding	Pathogenic
1	149923653	AG	A	G149923656C	SF3B4	NM_005850.5(SF3B4):c.1163del:p.Pro388fs	coding	Pathogenic
1	149923657	C	CCAGTGTA	T149923665C	SF3B4	NM_005850.5(SF3B4):c.1153_1159dup:p.Gly387fs	coding	Pathogenic
1	149923668	A	AT	G149923670T	SF3B4	NM_005850.5(SF3B4):c.1148dup:p.His383fs	coding	Pathogenic
1	149923669	TG	T	G149923676C	SF3B4	NM_005850.5(SF3B4):c.1147del:p.His383fs	coding	Pathogenic
1	149923669	T	TG	C149923677G	SF3B4	NM_005850.5(SF3B4):c.1147dup:p.His383fs	coding	Pathogenic
1	149925884	CA	C	A149925885T	SF3B4	NM_005850.5(SF3B4):c.864del:p.His288fs	coding	Pathogenic
1	149925912	T	TCATACCC	C149925914A	SF3B4	NM_005850.5(SF3B4):c.836_837insGGGTATG:p.Thr280fs	coding	Pathogenic
1	149925921	TG	T	G149925927C	SF3B4	NM_005850.5(SF3B4):c.827del:p.Pro276fs	coding	Pathogenic
1	149925921	T	TG	C149925928G	SF3B4	NM_005850.5(SF3B4):c.827dup:p.Ser277fs	coding	Pathogenic
1	149925937	GC	G	C149925938A	SF3B4	NM_005850.5(SF3B4):c.811del:p.Ala271fs	coding	Pathogenic
1	149925952	A	AT	A149925954T	SF3B4	NM_005850.5(SF3B4):c.796dup:p.Met266fs	coding	Pathogenic
1	149925979	AT	A	T149925980C	SF3B4	NM_005850.5(SF3B4):c.769del:p.Ile257fs	coding	Pathogenic
1	149926005	TGGCACTGGGGGTG	T	C149926008A	SF3B4	NM_005850.5(SF3B4):c.731_743del:p.Pro244fs	coding	Pathogenic
1	149926417	T	TTGGG	A149926422T	SF3B4	NM_005850.5(SF3B4):c.661_664dup:p.Asn222fs	coding	Pathogenic
1	149927240	CA	C	A149927241C	SF3B4	NM_005850.5(SF3B4):c.88del:p.Trp30fs	coding	Pathogenic
1	149927282	TAC	T	C149927286G	SF3B4	NM_005850.5(SF3B4):c.43_44GT[1]:p.Tyr16fs	coding	Pathogenic
1	150487417	CTGTT	C	T150487420A	TARS2	NM_025150.4(TARS2):c.-31_-28del	noncoding	Benign
1	150509553	GC	TT	G150509553T	ECM1	NM_004425.4(ECM1):c.93_94delinsTT:p.Arg31_Gln32delinsSerTer	coding	Pathogenic
1	150510990	T	TC	T150510997C	ECM1	NM_004425.4(ECM1):c.506dup:p.Gly170fs	coding	Pathogenic
1	150510996	CT	C	T150510997G	ECM1	NM_004425.4(ECM1):c.507del:p.Arg171fs	coding	Pathogenic
1	150511766	CA	C	A150511767G	ECM1	NM_004425.4(ECM1):c.1019del:p.Gln340fs	coding	Pathogenic
1	150553055	AC	A	C150553058G	ADAMTSL4	NM_019032.5(ADAMTSL4):c.239del:p.Pro80fs	coding	Pathogenic
1	150553749	CCAGAGCCCAGGCCTCTGGCA	C	A150553758C	ADAMTSL4	NM_019032.6(ADAMTSL4):c.767_786del:p.Gln256fs	coding	Pathogenic
1	150553815	TCCGTGCATCCC	T	C150553817T	ADAMTSL4	NM_019032.5(ADAMTSL4):c.826_836del:p.Arg276fs	coding	Pathogenic
1	150555544	CTG	C	T150555549G	ADAMTSL4	NM_025008.5(ADAMTSL4):c.1351_1352TG[2]:p.Val452fs	coding	Pathogenic
1	150558029	T	TG	T150558038G	ADAMTSL4	NM_019032.5(ADAMTSL4):c.2270dup:p.Gly758fs	coding	Pathogenic
1	150805873	A	AGGAGTAACATATCCTTTCTTTCGATAGTCGACAGAGTCTGGGGCTCTACCTTCCCATTCTGGGATATAAAGGGTGTCATTACTGCG	A150805963G	CTSK	NM_000396.4(CTSK):c.301_386dup:p.Val130fs	coding	Pathogenic
1	150806186	G	GT	C150806194T	CTSK	NM_000396.4(CTSK):c.158dup:p.Asn53fs	coding	Pathogenic
1	151008634	T	TGGAGG	A151008640G	PRUNE1	NM_021222.3(PRUNE1):c.3_7dup:p.Asp3fs	coding	Pathogenic
1	151025653	AG	A	G151025655C	PRUNE1	NM_021222.3(PRUNE1):c.661del:p.Ala221fs	coding	Pathogenic
1	151343828	CT	C	T151343829G	RFX5	NM_001025603.2(RFX5):c.609del:p.Ala204fs	coding	Pathogenic
1	151344768	C	CA	G151344770A	RFX5	NM_001025603.2(RFX5):c.312dup:p.Asp105Ter	coding	Pathogenic
1	151399625	C	CG	T151399632G	PSMB4	NM_002796.3(PSMB4):c.44dup:p.Pro16fs	coding	Pathogenic
1	151401295	CGACTTAGTA	C	C151401298A	PSMB4	NM_002796.3(PSMB4):c.636_644del:p.Asp212_Val214del	coding	Pathogenic
1	151405413	AC	A	C151405414A	POGZ	NM_015100.4(POGZ):c.3621del:p.Trp1208fs	coding	Pathogenic
1	151405436	CTG	C	G151405438A	POGZ	NM_015100.4(POGZ):c.3597_3598del:p.Tyr1199_Ser1200delinsTer	coding	Pathogenic
1	151405577	CCT	C	C151405578G	POGZ	NM_015100.4(POGZ):c.3456_3457del:p.Glu1154fs	coding	Pathogenic
1	151405674	T	TA	G151405676A	POGZ	NM_015100.4(POGZ):c.3360dup:p.Met1121fs	coding	Pathogenic
1	151405680	AG	A	G151405683T	POGZ	NM_015100.4(POGZ):c.3354del:p.Leu1119fs	coding	Pathogenic
1	151405713	CA	C	A151405717T	POGZ	NM_015100.4(POGZ):c.3321del:p.Phe1107fs	coding	Pathogenic
1	151405724	AAG	A	A151405727T	POGZ	NM_015100.4(POGZ):c.3307_3308CT[1]:p.Phe1104fs	coding	Pathogenic
1	151405993	CT	C	T151405994G	POGZ	NM_015100.4(POGZ):c.3041del:p.Gln1014fs	coding	Pathogenic/Likely_pathogenic
1	151406109	TCA	T	C151406112G	POGZ	NM_015100.4(POGZ):c.2922_2923TG[1]:p.Val975fs	coding	Pathogenic
1	151406151	C	CA	C151406153A	POGZ	NM_015100.4(POGZ):c.2883dup:p.Gly962fs	coding	Pathogenic
1	151406204	TCATCAACATTCAGA	T	C151406208T	POGZ	NM_015100.4(POGZ):c.2817_2830del:p.Cys939_Asp944delinsTer	coding	Pathogenic
1	151406254	T	TA	G151406258A	POGZ	NM_015100.4(POGZ):c.2780dup:p.Leu927fs	coding	Pathogenic
1	151406263	CG	C	G151406266T	POGZ	NM_015100.4(POGZ):c.2771del:p.Pro924fs	coding	Pathogenic
1	151406271	T	TG	T151406277G	POGZ	NM_015100.4(POGZ):c.2763dup:p.Thr922fs	coding	Pathogenic
1	151406284	T	TG	T151406289G	POGZ	NM_015100.4(POGZ):c.2750dup:p.Pro918fs	coding	Pathogenic
1	151406322	C	CT	A151406324T	POGZ	NM_015100.4(POGZ):c.2712dup:p.Ala905fs	coding	Pathogenic
1	151406387	TTG	T	G151406389T	POGZ	NM_015100.4(POGZ):c.2646_2647del:p.Asn882fs	coding	Pathogenic
1	151406418	TA	T	A151406419T	POGZ	NM_015100.4(POGZ):c.2616del:p.Asn872fs	coding	Pathogenic
1	151406934	CTG	C	T151406937A	POGZ	NM_015100.4(POGZ):c.2518_2519CA[1]:p.His840fs	coding	Pathogenic
1	151408129	AC	A	C151408130A	POGZ	NM_015100.4(POGZ):c.2345del:p.Cys782fs	coding	Pathogenic
1	151408150	CAGAG	C	A151408153C	POGZ	NM_015100.4(POGZ):c.2319_2320CT[1]:p.Ser774fs	coding	Pathogenic
1	151408478	A	AT	G151408481T	POGZ	NM_015100.4(POGZ):c.2164dup:p.Met722fs	coding	Pathogenic
1	151411683	T	TAA	G151411686A	POGZ	NM_015100.4(POGZ):c.1866_1867dup:p.Tyr623fs	coding	Pathogenic
1	151411741	C	CA	G151411743A	POGZ	NM_015100.4(POGZ):c.1809dup:p.Glu604Ter	coding	Pathogenic
1	151423516	TC	A	T151423516A	POGZ	NM_015100.4(POGZ):c.1558_1559delinsT:p.Asp520fs	coding	Pathogenic
1	151424194	A	AG	A151424199G	POGZ	NM_015100.4(POGZ):c.1277dup:p.Pro426_Glu427insTer	coding	Pathogenic
1	151424958	CAT	C	A151424959G	POGZ	NM_015100.4(POGZ):c.1180_1181del:p.Met394fs	coding	Pathogenic
1	151427852	C	CT	G151427856T	POGZ	NM_015100.4(POGZ):c.1048dup:p.Arg350fs	coding	Pathogenic
1	151428348	CAG	C	A151428349G	POGZ	NM_015100.4(POGZ):c.632_633del:p.Pro211fs	coding	Pathogenic
1	151430749	A	AT	A151430751T	POGZ	NM_015100.4(POGZ):c.375dup:p.Leu126fs	coding	Pathogenic
1	151612258	T	TGGC	G151612273C	SNX27	NM_001330723.2(SNX27):c.60_62CGG[5]:p.Gly25dup	coding	Benign
1	151612459	C	CG	C151612467G	SNX27	NM_001330723.2(SNX27):c.265dup:p.Ala89fs	coding	Pathogenic
1	151658313	AAG	A	A151658320T	SNX27	NM_001330723.2(SNX27):c.629_630del:p.Glu210fs	coding	Pathogenic
1	151662235	GT	G	T151662237A	SNX27	NM_001330723.2(SNX27):c.873del:p.Lys293fs	coding	Pathogenic
1	151692548	T	TA	C151692552A	SNX27	NM_001330723.2(SNX27):c.1356dup:p.Leu453fs	coding	Pathogenic
1	151760903	C	CAA	T151760927A	MRPL9	NM_031420.4(MRPL9):c.589-27_589-26dup	noncoding	Benign
1	152111699	T	TTGCTGCTCGCGCCTCTCC	C152111737G	TCHH	NM_007113.3(TCHH):c.1500_1517dupGGAGAGGCGCGAGCAGCA	coding	Benign
1	152156589	GTGGTGGGAATCTCTGTCTTGTTTCTCAGACTGACCA	G	T152156611C	RPTN	NM_001122965.1(RPTN):c.474_509del:p.Gly159_His170del	coding	Benign
1	152303034	T	TG	A152303036G	FLG	NM_002016.1(FLG):c.11851dup:p.His3951fs	coding	Pathogenic
1	152303850	AC	A	C152303851T	FLG	NM_002016.2(FLG):c.11035del:p.Val3679fs	coding	Pathogenic
1	152304694	AC	A	C152304695T	FLG	NM_002016.1(FLG):c.10191del:p.Glu3397fs	coding	Pathogenic
1	152305067	TTGTC	T	T152305070G	FLG	NM_002016.2(FLG):c.9815_9818del:p.Arg3272fs	coding	Pathogenic
1	152305163	TC	T	C152305165A	FLG	NM_002016.1(FLG):c.9722del:p.Gly3241fs	coding	Pathogenic
1	152305605	GC	G	C152305607T	FLG	NM_002016.1(FLG):c.9280del:p.Ala3094fs	coding	Pathogenic
1	152307398	TG	T	G152307399T	FLG	NM_002016.1(FLG):c.7487del:p.Thr2496fs	coding	Pathogenic
1	152307617	CTG	C	G152307619T	FLG	NM_002016.1(FLG):c.7267_7268del:p.Gln2423fs	coding	Pathogenic
1	152307784	CCTGA	C	G152307787A	FLG	NM_002016.1(FLG):c.7098_7101del:p.Ser2366fs	coding	Pathogenic
1	152307928	CATGGGATG	C	G152307932C	FLG	NM_002016.1(FLG):c.6950_6957del:p.Ala2316_Ser2317insTer	coding	Pathogenic
1	152308939	CTG	C	T152308944A	FLG	NM_002016.1(FLG):c.5945_5946delCA	coding	Pathogenic
1	152309195	GT	G	T152309196G	FLG	NM_002016.1(FLG):c.5690del:p.His1897fs	coding	Pathogenic
1	152310073	C	CTGAGT	G152310079T	FLG	NM_002016.2(FLG):c.4808_4812dup:p.Glu1605fs	coding	Pathogenic
1	152310097	CCTGA	C	G152310100A	FLG	NM_002016.1(FLG):c.4785_4788del:p.Ser1595fs	coding	Pathogenic
1	152310880	ACT	A	C152310883G	FLG	NM_002016.1(FLG):c.4004_4005delAG	coding	Pathogenic
1	152310993	GA	G	A152310995G	FLG	NM_002016.1(FLG):c.3892del:p.Ser1298fs	coding	Pathogenic
1	152311048	AG	A	G152311049T	FLG	NM_002016.1(FLG):c.3837del:p.Ser1280fs	coding	Pathogenic
1	152311183	AC	A	C152311186T	FLG	NM_002016.1(FLG):c.3702del:p.Ser1235fs	coding	Pathogenic
1	152311375	AC	A	C152311379G	FLG	NM_002016.1(FLG):c.3510del:p.Ser1171fs	coding	Pathogenic
1	152311564	CT	C	T152311565G	FLG	NM_002016.1(FLG):c.3321del:p.Gly1109fs	coding	Pathogenic
1	152311660	CCTCA	C	C152311663A	FLG	NM_002016.2(FLG):c.3222_3225del:p.Ser1074fs	coding	Pathogenic
1	152311979	GT	G	T152311982C	FLG	NM_002016.1(FLG):c.2906del:p.Asn969fs	coding	Pathogenic
1	152313055	GC	G	C152313059G	FLG	NM_002016.2(FLG):c.1830del:p.Arg612fs	coding	Pathogenic
1	152313587	GTC	G	C152313589G	FLG	NM_002016.1(FLG):c.1297_1298del:p.Asp433fs	coding	Pathogenic
1	152313637	A	AC	G152313643C	FLG	NM_002016.1(FLG):c.1248dup:p.Ser417fs	coding	Pathogenic
1	152314140	C	CT	A152314142T	FLG	NM_002016.1(FLG):c.745dup:p.Ser249fs	coding	Pathogenic
1	152314225	CT	C	T152314226G	FLG	NM_002016.1(FLG):c.660del:p.Gly221fs	coding	Pathogenic
1	152314328	G	GT	C152314334T	FLG	NM_002016.1(FLG):c.557dup:p.Asn186fs	coding	Pathogenic
1	152314408	C	CT	C152314417T	FLG	NM_002016.1(FLG):c.477dup:p.Glu160fs	coding	Pathogenic
1	152314494	CTTCT	C	T152314498C	FLG	NM_002016.2(FLG):c.388_391del:p.Arg130fs	coding	Pathogenic
1	152315393	CT	C	T152315400G	FLG	NM_002016.2(FLG):c.63del:p.Asp22fs	coding	Pathogenic
1	152354960	TGAACTTGACCCATGTTGACCATAGCCAGATGACTGACTTGAGCCAGAACCATGTTGGCCATAGCTAGACTGATGTGATCTAGACTCATGTTGTCCAAAACCAGAGTATTGTCCTGAGCCAGTCCCATGTTGTCCAAAGCCACTGGACTGACCTGAGCCTGATCCATGTTGTCCAAAGCCAGAGTATTGACCTGAGCTTGACCTGTGTTGTCCAAAGCCAGATGTCTGTCCC	T	C152354993T	FLG2	NM_001014342.3(FLG2):c.2595_2825del:p.Ser869_Thr945del	coding	Benign
1	153261627	A	AG	T153261634G	LORICRIN	NM_000427.3(LORICRIN):c.684dup:p.Ser229fs	coding	Pathogenic
1	153813254	TC	T	C153813256T	GATAD2B	NM_020699.4(GATAD2B):c.1414del:p.Glu472fs	coding	Pathogenic
1	153813337	AC	A	C153813338A	GATAD2B	NM_020699.4(GATAD2B):c.1331del:p.Cys444fs	coding	Pathogenic
1	153813407	G	GC	A153813409C	GATAD2B	NM_020699.4(GATAD2B):c.1261dup:p.Ala421fs	coding	Pathogenic
1	153816289	ACT	A	C153816292G	GATAD2B	NM_020699.4(GATAD2B):c.1196_1197AG[1]:p.Ser400fs	coding	Pathogenic/Likely_pathogenic
1	153816292	CT	C	T153816293G	GATAD2B	NM_020699.4(GATAD2B):c.1196del:p.Gln399fs	coding	Pathogenic
1	153816507	TC	T	C153816510T	GATAD2B	NM_020699.4(GATAD2B):c.981del:p.Thr328fs	coding	Pathogenic
1	153816570	GA	G	A153816572C	GATAD2B	NM_020699.4(GATAD2B):c.918del:p.Pro307fs	coding	Pathogenic
1	153818098	TTAGA	T	A153818102G	GATAD2B	NM_020699.4(GATAD2B):c.667_670del:p.Lys224fs	coding	Pathogenic
1	153818821	ACT	A	C153818824G	GATAD2B	NM_020699.4(GATAD2B):c.563_564AG[1]:p.Gln190fs	coding	Pathogenic
1	153818824	CTG	C	G153818826C	GATAD2B	NM_020699.4(GATAD2B):c.562_563del:p.Gln188fs	coding	Pathogenic
1	153818832	GTTTC	G	C153818836A	GATAD2B	NM_020699.4(GATAD2B):c.552_555del:p.Lys184fs	coding	Pathogenic
1	153818892	T	TA	G153818895A	GATAD2B	NM_020699.4(GATAD2B):c.495dup:p.Ile166fs	coding	Pathogenic
1	153819635	GTCTT	G	T153819640C	GATAD2B	NM_020699.4(GATAD2B):c.428_431AAGA[1]:p.Glu144fs	coding	Pathogenic
1	153828022	GCACT	G	C153828025T	GATAD2B	NM_020699.4(GATAD2B):c.322_325del:p.Ser108fs	coding	Pathogenic
1	153828073	G	GCAGT	C153828079A	GATAD2B	NM_020699.4(GATAD2B):c.271_274dup:p.Ala92fs	coding	Pathogenic
1	153828095	GC	G	C153828097T	GATAD2B	NM_020699.4(GATAD2B):c.252del:p.Arg84fs	coding	Pathogenic
1	153828154	GTGGGTAAC	CACCA	G153828154C	GATAD2B	NM_020699.4(GATAD2B):c.186_194delinsTGGTG:p.Glu62fs	coding	Pathogenic
1	153828162	CT	C	T153828163C	GATAD2B	NM_020699.4(GATAD2B):c.185del:p.Glu62fs	coding	Pathogenic
1	153828194	TC	T	C153828196T	GATAD2B	NM_020699.4(GATAD2B):c.153del:p.Lys52fs	coding	Pathogenic
1	153828232	G	GC	T153828235C	GATAD2B	NM_020699.4(GATAD2B):c.115dup:p.Ala39fs	coding	Pathogenic
1	153828267	G	GACATC	T153828274C	GATAD2B	NM_020699.4(GATAD2B):c.76_80dup:p.Leu28fs	coding	Pathogenic
1	153991196	TC	T	C153991198T	RPS27	NM_001030.6(RPS27):c.90del:p.Tyr31fs	coding	Pathogenic
1	154166689	C	CT	G154166702T	TPM3	NM_152263.4(TPM3):c.*1247dup	coding	Benign
1	154167939	AT	A	T154167940C	TPM3	NM_152263.4(TPM3):c.855del:p.Ter286AsnextTer?	coding	Pathogenic
1	154170678	TTTC	T	T154170682C	TPM3	NM_152263.4(TPM3):c.670_672GAA[1]:p.Glu225del	coding	Pathogenic
1	154170694	ATCT	A	C154170699T	TPM3	NM_152263.4(TPM3):c.654_656AGA[1]:p.Glu219del	coding	Pathogenic
1	154171584	T	TAG	T154171593A	TPM3	NM_152263.4(TPM3):c.567-104CT[5]	noncoding	Benign
1	154273372	TG	T	G154273373A	HAX1	NM_006118.3(HAX1):c.91del:p.Glu31fs	coding	Pathogenic
1	154273402	A	AG	C154273408G	HAX1	NM_006118.4(HAX1):c.125dup:p.Ser43fs	coding	Pathogenic
1	154273412	T	TA	G154273413A	HAX1	NM_006118.4(HAX1):c.130_131insA:p.Trp44Ter	coding	Pathogenic
1	154273449	A	AC	T154273456C	HAX1	NM_006118.4(HAX1):c.173dup:p.Pro58_Glu59insTer	coding	Pathogenic
1	154273455	CTG	TT	C154273455T	HAX1	NM_006118.4(HAX1):c.173_175delinsTT:p.Pro58fs	coding	Pathogenic
1	154273863	CA	C	A154273864C	HAX1	NM_006118.4(HAX1):c.407del:p.His136fs	coding	Pathogenic
1	154273880	T	TG	T154273888G	HAX1	NM_006118.3(HAX1):c.430dup:p.Val144fs	coding	Pathogenic
1	154434605	AG	A	G154434608A	IL6R	NM_000565.4(IL6R):c.548del:p.Gly183fs	coding	Pathogenic
1	154584285	CCT	C	C154584288T	ADAR	NM_001111.5(ADAR):c.*517_*518AG[1]	noncoding	Benign
1	154585296	T	TA	G154585298A	ADAR	NM_001111.5(ADAR):c.3363dup:p.Lys1122Ter	coding	Pathogenic
1	154585313	CT	C	T154585317G	ADAR	NM_001111.5(ADAR):c.3346del:p.Arg1116fs	coding	Pathogenic
1	154588267	CAG	C	A154588268G	ADAR	NM_001111.5(ADAR):c.2886-11_2886-10del	noncoding	Benign
1	154589856	TAGTC	T	T154589859A	ADAR	NM_001111.5(ADAR):c.2565_2568del:p.Asn857fs	coding	Pathogenic
1	154589860	C	CA	G154589862A	ADAR	NM_001111.5(ADAR):c.2564dup:p.Thr856fs	coding	Pathogenic
1	154590245	CCT	C	C154590246G	ADAR	NM_001111.5(ADAR):c.2433_2434del:p.Ala813fs	coding	Pathogenic
1	154596894	AG	A	G154596897T	ADAR	NM_001111.5(ADAR):c.2180del:p.Pro727fs	coding	Pathogenic
1	154596944	T	TG	C154596948G	ADAR	NM_001111.5(ADAR):c.2130dup:p.Asn711fs	coding	Pathogenic
1	154597929	AG	A	G154597930A	ADAR	NM_001111.5(ADAR):c.1832del:p.Ser611fs	coding	Pathogenic
1	154601147	ACT	A	C154601150G	ADAR	NM_001111.5(ADAR):c.1491_1492AG[1]:p.Glu498fs	coding	Pathogenic
1	154601561	CTCGCT	C	G154601564T	ADAR	NM_001111.5(ADAR):c.1076_1080del:p.Lys359fs	coding	Pathogenic
1	154601699	CAG	C	A154601702G	ADAR	NM_001111.5(ADAR):c.939_940CT[1]:p.Ser314fs	coding	Pathogenic
1	154602003	TG	T	G154602005T	ADAR	NM_001111.5(ADAR):c.638del:p.Pro213fs	coding	Pathogenic
1	154869723	GGCT	G	C154869764A	KCNN3	NM_002249.6(KCNN3):c.200_202AGC[13]:p.Gln80del	coding	Benign
1	154869723	G	GGCTGCTGCTGCT	A154869767C	KCNN3	NM_002249.6(KCNN3):c.200_202AGC[18]:p.Gln77_Gln80dup	coding	Benign
1	154869723	G	GGCTGCTGCTGCTGCTGCT	A154869767C	KCNN3	NM_002249.6(KCNN3):c.200_202AGC[20]:p.Gln75_Gln80dup	coding	Benign/Likely_benign
1	154925157	AG	A	G154925159T	PMVK	NM_006556.4(PMVK):c.550del:p.Asn183_Leu184insTer	coding	Pathogenic
1	154984014	CG	C	G154984018C	FLAD1	NM_025207.5(FLAD1):c.324del:p.Arg109fs	coding	Pathogenic
1	154988128	CTTCT	C	T154988133G	FLAD1	NM_025207.5(FLAD1):c.397_400TTCT[1]:p.Phe134fs	coding	Pathogenic
1	154988229	TC	T	C154988230T	FLAD1	NM_025207.5(FLAD1):c.498del:p.Ser167fs	coding	Pathogenic
1	154988258	GCAGGGGGCATC	CA	G154988258C	FLAD1	NM_025207.5(FLAD1):c.526_537delinsCA:p.Ala176fs	coding	Pathogenic
1	154988299	G	GGC	A154988302G	FLAD1	NM_025207.5(FLAD1):c.568_569dup:p.Val191fs	coding	Pathogenic
1	154988566	GT	G	T154988568C	FLAD1	NM_025207.5(FLAD1):c.836del:p.Phe279fs	coding	Pathogenic
1	154990455	ACTC	A	C154990458G	FLAD1	NM_025207.5(FLAD1):c.1484_1486del:p.Ser495del	coding	Pathogenic
1	155235749	GGGACTGTCGACAAAGTTACGCACCCAATTGGGTCCTCCTTCGGGGTTCAGGGCAA	G	A155235752T	GBA	NM_000157.4(GBA):c.1265_1319del:p.Leu422fs	coding	Pathogenic
1	155236439	CA	C	A155236440T	GBA	NM_000157.4(GBA):c.1029del:p.Lys342_Tyr343insTer	coding	Pathogenic
1	155238264	CG	C	G155238267A	GBA	NM_000157.4(GBA):c.630del:p.Val211fs	coding	Pathogenic
1	155238298	CAG	C	A155238299G	GBA	NM_000157.4(GBA):c.595_596del:p.Leu199fs	coding	Pathogenic
1	155238547	GA	G	A155238549G	GBA	NM_000157.4(GBA):c.557del:p.Phe186fs	coding	Pathogenic
1	155238571	AG	A	G155238575T	GBA	NM_000157.4(GBA):c.533del:p.Pro178fs	coding	Pathogenic
1	155238617	GC	G	C155238619A	GBA	NM_000157.4(GBA):c.487del:p.Ala163fs	coding	Pathogenic
1	155239665	CAG	C	A155239666G	GBA	NM_000157.4(GBA):c.403_404del:p.Leu135fs	coding	Pathogenic
1	155239968	GGTA	G	G155239969C	GBA	NM_000157.4(GBA):c.222_224del:p.Thr75del	coding	Pathogenic
1	155240651	G	GC	A155240652C	GBA	NM_000157.4(GBA):c.93_94insG:p.Gln32fs	coding	Pathogenic
1	155240660	G	GC	A155240662C	GBA	NM_001005741.2(GBA):c.84dupG:p.Leu29Alafs*18	coding	Pathogenic
1	155240671	AG	A	G155240673C	GBA	NM_000157.4(GBA):c.73del:p.Leu25fs	coding	Pathogenic
1	155337700	C	CT	C155337703T	ASH1L	NM_018489.3(ASH1L):c.8854dup:p.Arg2952fs	coding	Pathogenic
1	155347690	T	TCCTTG	T155347696C	ASH1L	NM_018489.3(ASH1L):c.7764_7768dup:p.Asp2590fs	coding	Pathogenic
1	155357741	AC	TGAGAA	A155357741T	ASH1L	NM_018489.3(ASH1L):c.6803_6804delinsTTCTCA:p.Cys2268fs	coding	Pathogenic
1	155477966	GAA	G	A155477969G	ASH1L	NM_018489.3(ASH1L):c.4902_4903del:p.Ser1635fs	coding	Pathogenic
1	155478644	TAA	T	A155478646G	ASH1L	NM_018489.3(ASH1L):c.4224_4225del:p.Tyr1409fs	coding	Pathogenic
1	155479164	CA	C	A155479165G	ASH1L	NM_018489.3(ASH1L):c.3705del:p.Glu1236fs	coding	Pathogenic
1	155479202	CTCTT	C	C155479204T	ASH1L	NM_018489.3(ASH1L):c.3664_3667del:p.Lys1222fs	coding	Pathogenic
1	155479877	AAC	A	C155479879G	ASH1L	NM_018489.3(ASH1L):c.2991_2992del:p.Leu998fs	coding	Pathogenic
1	155480447	TT	A	T155480447A	ASH1L	NM_018489.3(ASH1L):c.2422_2423delinsT:p.Lys808fs	coding	Pathogenic
1	155480844	ATAAAC	A	A155480847G	ASH1L	NM_018489.3(ASH1L):c.2021_2025del:p.Ser674fs	coding	Pathogenic
1	155480988	C	CTT	A155480992T	ASH1L	NM_018489.3(ASH1L):c.1880_1881dup:p.Gly628fs	coding	Pathogenic
1	155481237	AT	A	T155481240A	ASH1L	NM_018489.3(ASH1L):c.1632del:p.Lys544fs	coding	Pathogenic
1	155660417	TCAGA	T	C155660422G	YY1AP1	NM_001198906.2(YY1AP1):c.*428_*431TCTG[1]	coding	Pathogenic
1	155688320	GGCGGCGGCA	G	G155688332A	YY1AP1	NM_001198903.1(YY1AP1):c.136_144del	coding	Benign
1	155910963	A	AC	A155910971C	RIT1	NM_006912.6(RIT1):c.-43-166dup	noncoding	Benign
1	155958318	AC	A	C155958320A	ARHGEF2	NM_001162383.2(ARHGEF2):c.1545+1del	noncoding	Pathogenic
1	156114925	A	AC	G156114930C	LMNA	NM_170707.4(LMNA):c.11dup:p.Ser5fs	coding	Pathogenic
1	156114930	GT	G	T156114931C	LMNA	NM_170707.4(LMNA):c.13del:p.Ser5fs	coding	Pathogenic
1	156114931	TC	T	C156114934A	LMNA	NM_170707.4(LMNA):c.16del:p.Gln6fs	coding	Pathogenic
1	156114964	GC	G	C156114966A	LMNA	NM_170707.4(LMNA):c.48del:p.Ser17fs	coding	Pathogenic
1	156114968	G	GCT	C156114972T	LMNA	NM_170707.4(LMNA):c.52_53dup:p.Thr19fs	coding	Pathogenic
1	156114983	CG	T	C156114983T	LMNA	NM_170707.4(LMNA):c.65_66delinsT:p.Ser22fs	coding	Pathogenic
1	156114988	AC	A	C156114991G	LMNA	NM_170707.4(LMNA):c.73del:p.Arg25fs	coding	Pathogenic
1	156115006	CAGG	C	G156115009A	LMNA	NM_170707.4(LMNA):c.91_93del:p.Glu31del	coding	Pathogenic
1	156115009	GAGA	G	A156115012G	LMNA	NM_170707.4(LMNA):c.94_96del:p.Lys32del	coding	Pathogenic
1	156115079	CGG	C	G156115080A	LMNA	NM_170707.4(LMNA):c.162_163del:p.Asn56fs	coding	Pathogenic
1	156115127	TC	T	C156115128A	LMNA	NM_170707.4(LMNA):c.210del:p.Ser71fs	coding	Pathogenic
1	156115165	G	GCCGA	G156115170C	LMNA	NM_170707.4(LMNA):c.248_251dup:p.Glu84fs	coding	Pathogenic
1	156115265	T	TG	A156115267G	LMNA	NM_170707.4(LMNA):c.348dup:p.Lys117fs	coding	Pathogenic
1	156130641	GAT	TGGTCACCTGAGAG	G156130641T	LMNA	NM_170707.4(LMNA):c.381_383delinsTGGTCACCTGAGAG:p.Ile128fs	coding	Pathogenic
1	156134410	CA	C	A156134411G	LMNA	NM_170707.4(LMNA):c.522del:p.Ala175fs	coding	Pathogenic
1	156134472	AACAGGCTGCAG	A	A156134475C	LMNA	NM_170707.4(LMNA):c.586_596del:p.Arg196fs	coding	Pathogenic
1	156134499	CT	C	T156134500G	LMNA	NM_170707.4(LMNA):c.611del:p.Leu204fs	coding	Pathogenic
1	156134508	CAGA	C	G156134513C	LMNA	NM_170707.4(LMNA):c.621_623GAA[1]:p.Lys208del	coding	Pathogenic
1	156134869	GT	G	T156134870G	LMNA	NM_170707.4(LMNA):c.705del:p.Glu236fs	coding	Pathogenic
1	156134876	TGAGAGCCGGCTGGCGGAT	CC	T156134876C	LMNA	NM_170707.4(LMNA):c.711_729delinsCC:p.Glu238fs	coding	Pathogenic
1	156134893	A	AT	G156134895T	LMNA	NM_170707.4(LMNA):c.729dup:p.Ala244fs	coding	Pathogenic
1	156134909	GC	TT	G156134909T	LMNA	NM_170707.4(LMNA):c.744_745delinsTT:p.Arg249Trp	coding	Pathogenic
1	156134942	TAAG	T	A156134946G	LMNA	NM_170707.4(LMNA):c.778_780AAG[1]:p.Lys261del	coding	Pathogenic/Likely_pathogenic
1	156134947	AG	A	G156134949A	LMNA	NM_170707.4(LMNA):c.784del:p.Glu262fs	coding	Pathogenic
1	156135003	TGCCTCTGCCCTTGGCAGCCCTACCCTTACCCACGCTGGGCTATGCCTTCTGGGGATCAGGCAGATGGTGGCAGGGAGCTCAGGGTGGCCCAGGACCTGGGGCTGTAGCAGTGATGCCCAACTCAGGCCTGTGCCTCCACCCCTCCCAGTCACCACAGTCCTAACCCTTTGTCCTCCCCTCCAGCTGGACAATGCCAGGCAGTCTGCTGAGAGGAACAGCAACCTGGTGGGGGCTGCCCACGAGGAGCTGCAGCAGTCGCGCATCCGCATCGACAGCCTCTCTGCCCAGCTCAGCCAGCTCCAGAAGCAGGTGATACCCCACCTCACCCCTCTCTCCAGGGGCCTAGAGTCTGGGCCGGATGCAGGCTGGAAGCCCAGGGTTGGGGGTGGGGGTGGGGGTGGGAGGTTCCTGAGGAGGAGAGGGATGAAAAGTGTCCCCACAACCACAGAGAAGGGTCGCAGGATGTGGAGTCAGATGGCCTGTGTGCTGTTTCTGTACACTCTTACCTCACCTTCACTTCTCAGGGCTTTGGTTTTCCCATTCGAAAATGGAGGCTGTTCTTAATCTCCCTAACTCAGAGTTGCCACAGGACTCTGCAATGTGAGGTGTTAAAAGCATCAGTATTTTTCTAGTTGGCTGTGCTATTTGTGACAGGAGAAAAAGTCTAGCCTCAGAACGAGAGGTTTCAGTTAGACAAGGGGAAGGACTTCCCAGTTGCCAGCCAAGACTATGTTTAGAGCTTGTGATGTTCAGAGCTGGCTCTGATGAGGGCTCTGGGGAAGCTCTGATTGCAGATCCTGGAGAGAGTAGCCAGGTGTCTCCTACACCGACCCACGTCCCTCCTTCCCCATACTTAGGGCCCTTGGGAGCTCACCAAACCCTCCCACCCCCCTTCAGCTGGCAGCCAAGGAGGCGAAGCTTCGAGACCTGGAGGACTCACTGGCCCGTGAGCGGGACACCAGCCGGCGGCTGCTGGCGGAAAAGGAGCGGGAGATGGCCGAGATGCGGGCAAGGATGCAGCAGCAGCTGGACGAGTACCAGGAGCTTCTGGACATCAAGCTGGCCCTGGACATGGAGATCCACGCCTACCGCAAGCTCTTGGAGGGCGAGGAGGAGAGGTGGGCTGGGGAGACGTCGGGGAGGTGCTGGCAGTGTCCTCTGGCCGGCAACTGGCCTTGACTAGACCCCCACTTGGTCTCCCTCTCCCCAGGCTACGCCTGTCCCCCAGCCCTACCTCGCAGCGCAGCCGTGGCCGTGCTTCCTCTCACTCATCCCAGACACAGGGTGGGGGCAGCGTCACCAAAAAGCGCAAACTGGAGTCCACTGAGAGCCGCAGCAGCTTCTCACAGCACGCACGCACTAGCGGGCGCGTG	T	T156135007G	LMNA	NM_170707.4(LMNA):c.810+32_1323del	noncoding	Pathogenic
1	156135210	TG	T	G156135211A	LMNA	NM_170707.4(LMNA):c.835del:p.Glu279fs	coding	Pathogenic
1	156135213	GAGGAAC	G	G156135216C	LMNA	NM_170707.4(LMNA):c.840_845del:p.Arg280_Asn281del	coding	Pathogenic
1	156135230	TG	T	G156135235C	LMNA	NM_170707.4(LMNA):c.859del:p.Ala287fs	coding	Pathogenic/Likely_pathogenic
1	156135262	C	CA	G156135263A	LMNA	NM_170707.4(LMNA):c.886_887insA:p.Arg296fs	coding	Pathogenic
1	156135279	CCT	C	C156135284G	LMNA	NM_170707.4(LMNA):c.904_905CT[2]:p.Ser303fs	coding	Pathogenic
1	156135921	GC	G	C156135922T	LMNA	NM_170707.4(LMNA):c.958del:p.Leu320fs	coding	Pathogenic
1	156135922	CT	C	T156135924C	LMNA	NM_005572.3(LMNA):c.959delT:p.Arg321Glufs	coding	Pathogenic
1	156135930	CCT	C	C156135931G	LMNA	NM_170707.4(LMNA):c.967_968del:p.Leu323fs	coding	Pathogenic
1	156135935	A	AG	A156135938G	LMNA	NM_170707.4(LMNA):c.973dup:p.Asp325fs	coding	Pathogenic
1	156135940	TCA	T	A156135942T	LMNA	NM_170707.4(LMNA):c.978_979del:p.Leu327fs	coding	Pathogenic
1	156135941	C	CA	C156135943A	LMNA	NM_170707.4(LMNA):c.978dup:p.Leu327fs	coding	Pathogenic
1	156135953	AGC	A	C156135955G	LMNA	NM_170707.4(LMNA):c.991_992del:p.Arg331fs	coding	Pathogenic/Likely_pathogenic
1	156135991	CG	C	G156135994A	LMNA	NM_170707.4(LMNA):c.1030del:p.Glu344fs	coding	Pathogenic
1	156136048	CT	C	T156136050C	LMNA	NM_170707.4(LMNA):c.1086del:p.Leu363fs	coding	Pathogenic
1	156136074	C	CATGG	G156136080T	LMNA	NM_170707.4(LMNA):c.1112_1115dup:p.Glu372fs	coding	Pathogenic/Likely_pathogenic
1	156136076	TG	T	G156136078A	LMNA	NM_170707.4(LMNA):c.1114del:p.Glu372fs	coding	Pathogenic
1	156136103	TGGAGGGCGAGGAGGAGA	T	A156136106T	LMNA	NM_170707.4(LMNA):c.1142_1157+1del	coding	Pathogenic
1	156136105	GA	G	A156136106G	LMNA	NM_170707.4(LMNA):c.1142del:p.Glu381fs	coding	Pathogenic
1	156136112	AG	A	G156136114A	LMNA	NM_170707.4(LMNA):c.1150del:p.Glu384fs	coding	Pathogenic
1	156136935	CA	C	A156136937T	LMNA	NM_170707.4(LMNA):c.1397del:p.Asn466fs	coding	Pathogenic
1	156136975	CT	C	T156136976G	LMNA	NM_170707.4(LMNA):c.1436del:p.Leu479fs	coding	Pathogenic/Likely_pathogenic
1	156137137	AC	A	C156137140A	LMNA	NM_170707.4(LMNA):c.1516del:p.His506fs	coding	Pathogenic
1	156137144	G	GC	T156137151C	LMNA	NM_005572.3(LMNA):c.1526dupC:p.Thr510Tyrfs	coding	Pathogenic
1	156137145	C	CCCCCCTACCGA	T156137159C	LMNA	NM_170707.4(LMNA):c.1524_1534dup:p.Leu512fs	coding	Pathogenic
1	156137201	TGCGTACG	T	G156137204T	LMNA	NM_170707.4(LMNA):c.1580_1586del:p.Arg527fs	coding	Pathogenic
1	156137226	TG	T	G156137230A	LMNA	NM_170707.4(LMNA):c.1606del:p.Glu536fs	coding	Pathogenic
1	156137670	AGCTGGTGC	A	G156137674C	LMNA	NM_170707.4(LMNA):c.1629_1636del:p.Val544fs	coding	Pathogenic
1	156137701	C	CG	A156137703G	LMNA	NM_170707.4(LMNA):c.1657dup:p.Asp553fs	coding	Pathogenic
1	156138482	TCCCAGGGCTCCCACTGCAGCAGCTCGGGGGACCCCGCTGAGTACAACCTGCGCTCGCGCACCGTGCTGTGCGGGACCTGCGGGCAGCCTGCCGACAAGGCATCTGCCAGCGGCTCAGGAGCCCAGGTGGGCGGACCCATCTCCTCTGGCTCTTCTGCCTCCAGTGTCACGGTCACTCGCAGCTACCGCAGTGTGGGGGGCAGTGGGGGTGGCAGCTTCGGGGACAATCTGGTCACCCGCTCCTACCTCCTGGGCAACTCCAGCCCCCGAA	T	G156138489T	LMNA	NM_170707.4(LMNA):c.1700_1968+1del	noncoding	Pathogenic
1	156138749	C	CG	A156138751G	LMNA	NM_170707.3(LMNA):c.1961dupG:p.Thr655Asnfs	coding	Pathogenic
1	156160962	A	AG	A156160965G	SEMA4A	NM_022367.4(SEMA4A):c.745dup:p.Glu249fs	coding	Pathogenic
1	156592622	CCAGTGTCAGA	ATCCCTTTCCTTGGGG	C156592622A	NAXE	NM_144772.3(NAXE):c.468_478delinsATCCCTTTCCTTGGGG:p.Gln157fs	coding	Pathogenic
1	156593959	GC	G	C156593960A	NAXE	NM_144772.3(NAXE):c.743del:p.Ala248fs	coding	Pathogenic
1	156594021	GAAG	A	G156594021A	NAXE	NM_144772.3(NAXE):c.804_807delinsA:p.Lys270del	coding	Pathogenic
1	156861140	CTG	C	T156861141A	NTRK1	NM_001007792.1(NTRK1):c.123-3213_123-3212del	coding	Pathogenic
1	156864365	A	ACCAG	A156864371C	NTRK1	NM_001007792.1(NTRK1):c.136_139dup:p.Gln47fs	coding	Pathogenic
1	156864371	AG	A	G156864372C	NTRK1	NM_001007792.1(NTRK1):c.141del:p.Gln47fs	coding	Pathogenic
1	156864429	G	GT	G156864431T	NTRK1	NM_002529.3(NTRK1):c.287+2dup	noncoding	Pathogenic
1	156868215	AG	A	G156868218C	NTRK1	NM_001007792.1(NTRK1):c.453del:p.Leu153fs	coding	Pathogenic
1	156868503	AG	A	G156868505T	NTRK1	NM_001012331.1(NTRK1):c.575delG	noncoding	Pathogenic
1	156873812	GGGTGTCTGCGCCT	G	G156873813C	NTRK1	NM_001007792.1(NTRK1):c.941_953del:p.Gly314fs	coding	Pathogenic
1	156874963	C	CTTGT	G156874968T	NTRK1	NM_001007792.1(NTRK1):c.1202_1205dup:p.Leu403fs	coding	Pathogenic
1	156875017	GGGCTGCAGAGGGCTGTCTGTCTGTCTGTTCTCCTGGCTTTGTTTCCTACTGGCTCTTCCTGACTCTGTCTCTGGGGGGCTGTGCACATGGGAGTTCCAGGGCGTGTGAGTGTGTTTGGGGTATAAATGAAGGCCTGGCTGTGAGGCTTGTGAGTGTGAGTGTGTGTGGGAGCGTGTGTCGGGCTGGTGCTGGGGTAGTTTCAGAGGCGGCAGCTGCTAATTGGTGGCTGGATTGTAGTCAAGCATTAAGTGGGTCTGGGAGGTCTGGGCTCTGTGGGGGTGGAGGGGGAGTTCTTTGGTGCCCATGGGGCCAGGGGTGGGACAGGAGCCAGCACAGGGAGAGGCGGTGGTGCCCCCTTCCCCCTGCCTGCTGTCTCGCTCCCTAGCTTCTCAGTCTCTCCCCTGCAAGTTACAAGGTGGGGGTGACCAGGCATCCTGCAGGCAAGGGTGGGCAGGGCCAAGGTGTGGGCAAACCCCTCCATGCGGCTGTGTCTCCTCTCTAGGCCCGGCTGTGCTGGCTCCAGAGGATGGGCTGGCCATGTCCCTGCATTTCATGACATTGGGTGGCAGCTCCCTGTCCCCCACCGAGGGCAAAGGCTCTGGGCTCCAAGGCCACATCATCGAGAACCCACAATACTTCAGTGATGCCTGTGAGGGGCTATGCTGGGTCAAGGGCAGGGACGAGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTAGAAGCCCCTAGGCCTGAACGATCCCTCCCTTTCTCCCACCCCTCCCCAGCCCTATTCCAGCCATAGGCCCTGTCATATTCTTCTCAGGCTGAGTCCAGCCTGGCTCTTAGCTGCATCCCCTGCCCAGAGTCACAGCTAGCCCAAACCATGTCCTCTCGGGGCAGGTGCAGCCCCACACTATGACATGGGGCTTGCTGAAGGGGTGCAGGTTGAATTTTAGCCCCCATGCAGTCCCTCGTCTGGGCAGCCTTGTGCAGCACACAGCCCTGCCAAGACAGTCCCCGCTACAACCCCAGCCCTCCCAAGACTGGGGCTACCGTCTGACCCTGCAAGCCCCCTCAGGTGTTCACCACATCAAGCGCCGGGACATCGTGCTCAAGTGGGAGCTGGGGGAGGGCGCCTTTGGGAAGGTCTTCCTTGCTGAGTGCCACAACCTCCTGCCTGAGCAGGACAAGATGCTGGTGGCTGTCAAGGTGAGACCCTGCCCCGGGGGGTACTGCTGGCCTGGGTCCCACCCCCAGGAGCTCCATCACATCAGGACAGAGTGGGGGGAGATGCAGAGGGCTGACATGGCTGGATACCGGGGTGGGCGGGCTGCCCTGGGTGAACAGCAGTGAGGGCTCGGCCCCCAACTCAGTCCTGTCCCTGCCGCTTCCATCCA	G	T156875021A	NTRK1	NM_002529.3(NTRK1):c.1354+13_1634del	noncoding	Pathogenic
1	156876425	CT	C	T156876426C	NTRK1	NM_001007792.1(NTRK1):c.1551del:p.Arg518fs	coding	Pathogenic
1	156876426	TC	T	C156876427G	NTRK1	NM_001007792.1(NTRK1):c.1552del:p.Arg518fs	coding	Pathogenic
1	156879117	CA	C	A156879118C	NTRK1	NM_001007792.1(NTRK1):c.1698-4del	noncoding	Benign/Likely_benign
1	156879176	C	CT	C156879177T	NTRK1	NM_001007792.1(NTRK1):c.1752_1753insT:p.Pro585fs	coding	Pathogenic
1	156880006	G	GCCGC	A156880011C	NTRK1	NM_001007792.1(NTRK1):c.1947_1950dup:p.Thr651fs	coding	Pathogenic
1	158614313	GA	G	A158614325C	SPTA1	NM_003126.4(SPTA1):c.6789-8del	noncoding	Benign/Likely_benign
1	158614313	G	GAA	C158614326A	SPTA1	NM_003126.4(SPTA1):c.6789-19_6789-18dup	noncoding	Benign/Likely_benign
1	158614313	G	GA	C158614326A	SPTA1	NM_003126.4(SPTA1):c.6789-19dup	noncoding	Benign/Likely_benign
1	158668045	C	CT	C158668048T	SPTA1	NM_003126.4(SPTA1):c.1850dup:p.Ser618fs	coding	Pathogenic
1	159205718	CCCTGGCTGGCCTGT	C	T159205725A	ACKR1	NM_002036.4(ACKR1):c.286_299del:p.Trp96fs	coding	Pathogenic
1	160041757	AC	A	C160041759A	KCNJ10	NM_002241.5(KCNJ10):c.775del:p.Val258_Val259insTer	coding	Pathogenic
1	160042210	CAG	C	A160042211G	KCNJ10	NM_002241.5(KCNJ10):c.321_322del:p.Val109fs	coding	Pathogenic
1	160120890	TC	T	C160120893T	ATP1A2	NM_000702.4(ATP1A2):c.13-13del	noncoding	Benign
1	160120891	CCCTT	C	T160120895C	ATP1A2	NM_000702.4(ATP1A2):c.13-11_13-8del	noncoding	Benign
1	160123327	T	TTC	C160123332T	ATP1A2	NM_000702.4(ATP1A2):c.293_294TC[3]:p.Ile100fs	coding	Pathogenic
1	160125498	C	CT	G160125500T	ATP1A2	NM_000702.4(ATP1A2):c.748+246dup	noncoding	Benign
1	160129092	AG	A	G160129097T	ATP1A2	NM_000702.4(ATP1A2):c.1326+8del	noncoding	Benign/Likely_benign
1	160139618	A	AC	T160139621C	ATP1A2	NM_000702.4(ATP1A2):c.2841-20dup	noncoding	Benign
1	160141330	GGAA	G	G160141337C	ATP1A2	NM_000702.4(ATP1A2):c.*9_*11GAA[2]	noncoding	Benign
1	160240083	GCTCTTCTTCCTC	G	T160240102C	DCAF8	NM_015726.4(DCAF8):c.313_324GAGGAAGAAGAG[1]:p.Glu109_Glu112del	coding	Benign
1	160280077	A	AT	A160280079T	PEX19	NM_002857.3(PEX19):c.763dup:p.Met255fs	coding	Pathogenic
1	160282969	CT	C	T160282973G	PEX19	NM_002857.3(PEX19):c.320del:p.Lys107fs	coding	Pathogenic
1	160343408	AG	A	G160343413T	NCSTN	NM_015331.3(NCSTN):c.17del:p.Gly6fs	coding	Pathogenic
1	160356711	AG	A	G160356712C	NCSTN	NM_015331.3(NCSTN):c.1752del:p.Glu584fs	coding	Pathogenic
1	161074704	GA	G	A161074707G	NECTIN4	NM_030916.3(NECTIN4):c.906del:p.Pro304fs	coding	Pathogenic
1	161167208	GC	G	C161167211T	PPOX	NM_001122764.3(PPOX):c.199del:p.Ala66_Leu67insTer	coding	Pathogenic
1	161168497	CAT	C	A161168498C	PPOX	NM_001122764.3(PPOX):c.538_539del:p.Ile180fs	coding	Pathogenic
1	161169115	A	AG	T161169122G	PPOX	NM_001122764.3(PPOX):c.745dup:p.Val249fs	coding	Pathogenic
1	161170510	CAG	C	A161170513T	PPOX	NM_001122764.3(PPOX):c.1090_1091AG[1]:p.Arg364fs	coding	Pathogenic
1	161223055	CCA	C	A161223093T	APOA2	NM_001643.2(APOA2):c.53-43TG[18]	noncoding	Benign
1	161223055	CCACACACA	C	A161223087T	APOA2	NM_001643.2(APOA2):c.53-43TG[15]	noncoding	Benign
1	161223055	CCACACACACA	C	A161223085T	APOA2	NM_001643.2(APOA2):c.53-43TG[14]	noncoding	Benign
1	161223055	CCACACACACACA	C	A161223083T	APOA2	NM_001643.2(APOA2):c.53-43TG[13]	noncoding	Benign
1	161223055	C	CCA	T161223095A	APOA2	NM_001643.2(APOA2):c.53-43TG[20]	noncoding	Benign
1	161304965	T	TTCTC	G161304977C	MPZ	NM_000530.8(MPZ):c.*901_*902GA[7]	noncoding	Benign
1	161305972	TGGCGTCTGGGGGAGG	T	T161305977C	MPZ	NM_000530.8(MPZ):c.646-10_650del	coding	Pathogenic
1	161305976	G	GT	C161305978T	MPZ	NM_000530.8(MPZ):c.646dup:p.Thr216fs	coding	Pathogenic
1	161306164	T	TA	G161306166A	MPZ	NM_000530.8(MPZ):c.588dup:p.Met197fs	coding	Pathogenic
1	161306337	CCT	C	C161306340G	MPZ	NM_000530.8(MPZ):c.572_573AG[1]:p.Arg192fs	coding	Pathogenic
1	161306349	C	CGCCT	G161306360C	MPZ	NM_000530.8(MPZ):c.556_559AGGC[3]:p.Ala189fs	coding	Pathogenic
1	161306352	CT	C	T161306353G	MPZ	NM_000530.8(MPZ):c.560del:p.Gln187fs	coding	Pathogenic
1	161306354	GC	G	C161306356T	MPZ	NM_000530.8(MPZ):c.558del:p.Arg186fs	coding	Pathogenic
1	161306421	A	AC	G161306427C	MPZ	NM_000530.8(MPZ):c.491dup:p.Val165fs	coding	Pathogenic
1	161306426	CG	C	G161306427A	MPZ	NM_000530.8(MPZ):c.486del:p.Ile162fs	coding	Pathogenic/Likely_pathogenic
1	161306718	GACAT	G	T161306722G	MPZ	NM_000530.8(MPZ):c.434_437del:p.Tyr145fs	coding	Pathogenic
1	161306772	G	GTCAC	A161306777T	MPZ	NM_000530.8(MPZ):c.380_383dup:p.Asp128delinsGluTer	coding	Pathogenic
1	161306819	CAATG	C	A161306820G	MPZ	NM_000530.8(MPZ):c.333_336del:p.Ile112fs	coding	Pathogenic
1	161306885	C	CGTCAA	T161306891G	MPZ	NM_000530.8(MPZ):c.266_270dup:p.Glu91fs	coding	Pathogenic/Likely_pathogenic
1	161307290	AGC	A	G161307293C	MPZ	NM_000530.8(MPZ):c.198_199GC[1]:p.Arg67fs	coding	Pathogenic
1	161307301	AAGG	A	G161307304A	MPZ	NM_000530.8(MPZ):c.188_190del:p.Ser63del	coding	Pathogenic
1	161307354	CACCCGGGA	C	A161307355G	MPZ	NM_000530.8(MPZ):c.130_137del:p.Ser44fs	coding	Pathogenic
1	161307355	ACCCGGGAG	A	G161307359A	MPZ	NM_000530.8(MPZ):c.129_136del:p.Ser44fs	coding	Pathogenic
1	161307414	CG	C	G161307418A	MPZ	NM_000530.8(MPZ):c.77del:p.Pro26fs	coding	Pathogenic
1	161307420	CAGCACTGCA	C	T161307426A	MPZ	NM_000530.8(MPZ):c.68-5_71del	coding	Pathogenic
1	161309897	A	AGGAGCCATAGCTGGGGCAGGGGCAGGGGCCC	A161309934C	MPZ	NM_000530.8(MPZ):c.-23_8dup:p.Ala5fs	coding	Pathogenic
1	161314410	CT	C	T161314411G	SDHC	NM_003001.5(SDHC):c.6del:p.Ala3fs	coding	Pathogenic
1	161314421	C	CTG	A161314424T	SDHC	NM_003001.5(SDHC):c.17_18dup:p.Arg7Ter	coding	Pathogenic
1	161314434	A	AGT	G161314438T	MPZ;SDHC	NM_003001.3(SDHC):c.20+11_20+12dup	noncoding	Benign
1	161314435	G	GGT	T161314436G	SDHC	NM_003001.5(SDHC):c.20+10_20+11insGT	noncoding	Benign
1	161314436	T	TTG	G161314437T	SDHC	NM_003001.5(SDHC):c.20+11_20+12insTG	noncoding	Benign
1	161328402	TC	T	C161328404T	SDHC	NM_003001.5(SDHC):c.86del:p.Pro29fs	coding	Pathogenic
1	161328492	CT	C	T161328493A	SDHC	NM_003001.5(SDHC):c.175del:p.Tyr59fs	coding	Pathogenic
1	161340595	TG	T	G161340597T	SDHC	NM_003001.5(SDHC):c.183del:p.Trp61fs	coding	Pathogenic
1	161340628	CG	C	G161340629T	SDHC	NM_003001.5(SDHC):c.215del:p.Arg72fs	coding	Pathogenic
1	161340644	C	CT	G161340648T	SDHC	NM_003001.5(SDHC):c.233dup:p.Leu78fs	coding	Pathogenic
1	161356681	C	CT	C161356683T	SDHC	NM_003001.5(SDHC):c.247dup:p.Ser83fs	coding	Pathogenic
1	161356683	CTCTT	C	C161356685T	SDHC	NM_003001.5(SDHC):c.250_253del:p.Phe85fs	coding	Pathogenic
1	161356783	TAA	T	A161356784G	SDHC	NM_003001.5(SDHC):c.349_350del:p.Lys117fs	coding	Pathogenic
1	161356807	CATGTATCATACCTGGA	C	T161356811G	SDHC	NM_003001.5(SDHC):c.376_391del:p.Tyr126fs	coding	Pathogenic
1	161356810	G	GT	A161356812T	SDHC	NM_003001.5(SDHC):c.376dup:p.Tyr126fs	coding	Pathogenic
1	161362328	GATGTGGGACCTAGGAAAAGGCCTGAAGATTCCCCAGCTATACCAGTCTGGAGTGGTTGTCCTGGTTCTTACTGTGTTGTCCTCTATGGGGCTGGCAGCCATGTGA	G	T161362330G	SDHC	NM_003001.5(SDHC):c.407_*1del:p.Met136_Ter170delinsXaa	coding	Pathogenic
1	161363614	G	GA	T161363615A	SDHC	NM_003001.3(SDHC):c.*1181_*1182insA	noncoding	Benign
1	161364743	CA	C	A161364751G	SDHC	NM_001013625.4(CFAP126):c.*221del	noncoding	Benign
1	161781910	A	AG	A161781913G	ATF6	NM_007348.3(ATF6):c.160dup:p.Glu54Glyfs	noncoding	Pathogenic
1	161784093	TC	T	C161784095T	ATF6	NM_007348.4(ATF6):c.353del:p.Pro118fs	coding	Pathogenic
1	161791406	A	AG	A161791409G	ATF6	NM_007348.4(ATF6):c.355dup:p.Glu119Glyfs	noncoding	Pathogenic
1	161802157	T	TC	T161802161C	ATF6	NM_007348.4(ATF6):c.797dup:p.Pro266_Asn267insTer	coding	Pathogenic
1	161821081	T	TA	G161821085A	ATF6	NM_007348.4(ATF6):c.1110dup:p.Val371fs	coding	Pathogenic
1	162780420	CTT	C	T162780433A	DDR2	NM_006182.4(DDR2):c.*187_*188del	noncoding	Benign
1	164792597	C	CGG	A164792600G	PBX1	NM_002585.4(PBX1):c.370_371dup:p.Gly125fs	coding	Pathogenic
1	164792619	GC	G	C164792620A	PBX1	NM_002585.4(PBX1):c.392del:p.Ala131fs	coding	Pathogenic
1	164792639	AGGGGCAG	A	G164792641T	PBX1	NM_002585.3(PBX1):c.413_419del:p.Gly138fs	coding	Pathogenic
1	164792654	CA	C	A164792656C	PBX1	NM_002585.3(PBX1):c.428del:p.Asn143fs	coding	Pathogenic
1	164807619	A	AC	A164807624C	PBX1	NM_002585.3(PBX1):c.783dup:p.Ser262fs	coding	Pathogenic
1	165743318	GA	G	A165743333G	TMCO1	NM_019026.5(TMCO1):c.324-8del	noncoding	Benign
1	165743318	G	GA	G165743334A	TMCO1	NM_019026.5(TMCO1):c.324-22dup	noncoding	Benign
1	165768199	ACT	A	C165768202G	TMCO1	NM_019026.6(TMCO1):c.139_140del:p.Gln46_Ser47insTer	coding	Pathogenic
1	165768249	AAACC	A	A165768251G	TMCO1	NM_001256164.1(TMCO1):c.147-9_147-6del	coding	Pathogenic
1	167439353	CTG	ATA	C167439353A	CD247	NM_000734.4(CD247):c.208_210delinsTAT:p.Gln70Tyr	coding	Pathogenic
1	167439354	TG	CA	T167439354C	CD247	NM_000734.4(CD247):c.208_209inv:p.Gln70Trp	coding	Pathogenic
1	167518414	T	TC	G167518416C	CD247	NM_000734.4(CD247):c.51dup:p.Ile18fs	coding	Pathogenic
1	167848395	TC	T	C167848396T	ADCY10	NM_018417.6(ADCY10):c.2402del:p.Arg801fs	coding	Pathogenic
1	167880124	CGT	C	G167880127C	ADCY10	NM_018417.6(ADCY10):c.1203_1204AC[1]:p.His402fs	coding	Pathogenic
1	167902059	GA	G	A167902073T	ADCY10	NM_018417.6(ADCY10):c.254-6del	noncoding	Benign
1	167902059	G	GA	T167902074A	ADCY10	NM_018417.6(ADCY10):c.254-19dup	noncoding	Benign
1	168136343	A	AG	C168136349G	GPR161	NM_153832.2(GPR161):c.-272dup	coding	Benign
1	168281161	AGAGT	A	T168281165C	TBX19	NM_005149.3(TBX19):c.75_78del:p.Glu26fs	coding	Pathogenic
1	168281244	CAG	C	G168281248T	TBX19	NM_005149.3(TBX19):c.156_157GA[1]:p.Arg53fs	coding	Pathogenic
1	168291218	TC	T	C168291221T	TBX19	NM_005149.3(TBX19):c.265del:p.Leu89fs	coding	Pathogenic
1	168293285	G	GTGTT	G168293289T	TBX19	NM_005149.3(TBX19):c.603+10_603+11insTTGT	noncoding	Benign
1	168297784	AG	A	G168297786T	TBX19	NM_005149.3(TBX19):c.665+1del	coding	Pathogenic
1	168305060	CA	C	A168305062T	TBX19	NM_005149.3(TBX19):c.782del:p.Asn261fs	coding	Pathogenic
1	168313920	AAAAG	A	G168313944T	TBX19	NM_005149.3(TBX19):c.*922_*925GAAA[5]	noncoding	Benign
1	169468717	CCA	C	C169468720G	SLC19A2	NM_006996.3(SLC19A2):c.1146_1147TG[1]:p.Val383fs	coding	Pathogenic
1	169470108	GA	G	A169470110G	SLC19A2	NM_006996.3(SLC19A2):c.885del:p.Leu296fs	coding	Pathogenic
1	169477236	TG	T	G169477240T	SLC19A2	NM_006996.3(SLC19A2):c.725del:p.Pro242fs	coding	Pathogenic
1	169477376	TAA	T	A169477377G	SLC19A2	NM_006996.3(SLC19A2):c.584_585del:p.Leu195fs	coding	Pathogenic
1	169477531	TAA	T	A169477532G	SLC19A2	NM_006996.3(SLC19A2):c.429_430del:p.Ile145fs	coding	Pathogenic
1	169477719	G	GT	A169477721T	SLC19A2	NM_006996.3(SLC19A2):c.242dup:p.Tyr81Ter	coding	Pathogenic
1	169485696	CGAGCGGT	C	G169485697C	SLC19A2	NM_006996.3(SLC19A2):c.64_70del:p.Thr22fs	coding	Pathogenic
1	169530956	A	AT	C169530962T	F5	NM_000130.4(F5):c.5037dup:p.Ser1680fs	coding	Pathogenic
1	169540993	AG	A	G169540996T	F5	NM_000130.5(F5):c.4096del:p.Leu1366fs	coding	Pathogenic
1	169541902	C	CT	C169541905T	F5	NM_000130.4(F5):c.3187dupA:p.Arg1063Lysfs	coding	Pathogenic
1	170539374	C	CA	C170539380A	GORAB	NM_152281.3(GORAB):c.231dup:p.Pro78fs	coding	Pathogenic
1	170719746	GA	G	A170719753G	PRRX1	NM_022716.4(PRRX1):c.269del:p.Lys90fs	coding	Pathogenic
1	170719746	G	GAAAA	G170719754A	PRRX1	NM_022716.4(PRRX1):c.266_269dup:p.Arg92fs	coding	Pathogenic
1	171108182	CTG	C	T171108185A	FMO3	NM_001002294.3(FMO3):c.589_590TG[1]:p.Cys197_Asp198delinsTer	coding	Pathogenic
1	171116174	A	AT	A171116177T	FMO3	NM_001002294.3(FMO3):c.1184-32dup	noncoding	Benign
1	171196663	TG	T	G171196664T	FMO2	NM_001460.5(FMO2):c.337del:p.Ser112_Val113insTer	coding	Benign
1	171209118	C	CT	G171209126T	FMO2	NM_001460.5(FMO2):c.1588dup:p.Cys530fs	coding	Benign
1	172442610	G	GTGTTAGTCACAA	T172442612G	PIGC	NM_153747.2(PIGC):c.12_13insTTGTGACTAACA:p.Pro5delinsLeuTer	coding	Pathogenic/Likely_pathogenic
1	172659459	GT	G	T172659464C	FASLG	NM_000639.3(FASLG):c.263del:p.Phe88fs	coding	Pathogenic
1	172665641	CATGCCTCTGGAATGGGAAGACACCTATGGAATTGTCCTGCTTTCTGGAGTGAAGTATAAGAAGGGTGGCCTTGTGATCAATGAA	C	T172665643C	FASLG	NM_000639.3(FASLG):c.473_556del:p.Met158_Glu185del	coding	Pathogenic
1	172666616	G	GGT	A172666649G	FASLG	NM_000639.3(FASLG):c.*601_*602GT[17]	noncoding	Benign
1	172666616	GGTGTGT	G	G172666643A	FASLG	NM_000639.3(FASLG):c.*601_*602GT[13]	noncoding	Benign
1	173826664	TC	T	C173826665T	DARS2	NM_018122.5(DARS2):c.128-22del	noncoding	Benign
1	173826665	C	CT	A173826683T	DARS2	NM_018122.5(DARS2):c.128-5dup	noncoding	Benign
1	173826665	C	CTT	A173826683T	DARS2	NM_018122.5(DARS2):c.128-6_128-5dup	noncoding	Benign
1	173826665	C	CTTT	A173826683T	DARS2	NM_018122.5(DARS2):c.128-7_128-5dup	noncoding	Benign
1	173826665	CT	C	T173826682A	DARS2	NM_018122.5(DARS2):c.128-5del	noncoding	Benign
1	173826814	GC	TT	G173826814T	DARS2	NM_018122.5(DARS2):c.227+28_227+29delinsTT	noncoding	Benign
1	173828309	CT	C	T173828313C	DARS2	NM_018122.5(DARS2):c.228-20del	noncoding	Benign
1	173828312	TT	C	T173828312C	DARS2	NM_018122.5(DARS2):c.228-21_228-20delinsC	noncoding	Pathogenic
1	173850330	AT	A	T173850331C	DARS2	NM_018122.5(DARS2):c.1196del:p.Ile399fs	coding	Pathogenic
1	173850407	GG	C	G173850407C	DARS2	NM_018122.5(DARS2):c.1272_1273delinsC:p.Glu425fs	coding	Pathogenic
1	173909644	CG	C	G173909648C	SERPINC1	NM_000488.3(SERPINC1):c.1060del:p.Arg354fs	coding	Pathogenic
1	173909680	TCATC	T	T173909683G	SERPINC1	NM_000488.3(SERPINC1):c.1021_1024del:p.Asp341fs	coding	Pathogenic
1	173909736	GCT	G	C173909739T	SERPINC1	NM_000488.3(SERPINC1):c.965_966AG[1]:p.Ser323fs	coding	Pathogenic
1	173909873	ACT	A	T173909877C	SERPINC1	NM_001365052.1(SERPINC1):c.686_687del:p.Glu229fs	coding	Pathogenic
1	173909925	C	CT	G173909929T	SERPINC1	NM_000488.3(SERPINC1):c.779dup:p.Phe261fs	coding	Pathogenic
1	173909938	AG	A	G173909940C	SERPINC1	NM_000488.3(SERPINC1):c.766del:p.Leu256fs	coding	Pathogenic
1	173911958	AAAG	A	A173911965T	SERPINC1	NM_001365052.1(SERPINC1):c.312_314CTT[2]:p.Phe107del	coding	Pathogenic
1	173911974	T	TG	A173911976G	SERPINC1	NM_000488.3(SERPINC1):c.448dup:p.Gln150fs	coding	Pathogenic
1	173912002	CAAACTT	C	C173912006T	SERPINC1	NM_000488.3(SERPINC1):c.415_420del:p.Lys139_Phe140del	coding	Pathogenic
1	175362771	TCA	T	C175362774G	TNR	NM_003285.3(TNR):c.2742_2743TG[1]:p.Val915fs	coding	Pathogenic
1	175379615	CA	C	A175379616C	TNR	NM_003285.3(TNR):c.1899del:p.Glu634fs	coding	Pathogenic
1	176081294	GAAA	G	A176081308G	COP1	NM_022457.7(COP1):c.1142-10_1142-8del	noncoding	Benign
1	179551343	GA	G	A179551345G	NPHS2	NM_014625.4(NPHS2):c.981del:p.Gln328fs	coding	Pathogenic
1	179551376	CA	C	A179551377G	NPHS2	NM_144696.6(AXDND1):c.3032-3135del	coding	Pathogenic
1	179552619	CTT	C	T179552621G	NPHS2;AXDND1	NM_144696.6(AXDND1):c.3032-1891_3032-1890del	coding	Pathogenic/Likely_pathogenic
1	179552652	T	TG	A179552654G	NPHS2	NM_014625.4(NPHS2):c.823dup:p.Gln275fs	coding	Pathogenic
1	179557187	CAA	C	A179557189T	NPHS2	NM_014625.4(NPHS2):c.576_577del:p.Ile192fs	coding	Pathogenic
1	179561279	G	GT	A179561287T	NPHS2	NM_014625.3(NPHS2):c.451+3dup	noncoding	Benign/Likely_benign
1	179561303	CT	C	T179561305C	NPHS2	NM_014625.4(NPHS2):c.436del:p.Arg146fs	coding	Pathogenic
1	179561320	TC	T	C179561323A	NPHS2	NM_014625.4(NPHS2):c.419del:p.Gly140fs	coding	Pathogenic
1	179575708	TC	T	C179575712G	NPHS2	NM_014625.3(NPHS2):c.156del:p.Thr53fs	coding	Pathogenic/Likely_pathogenic
1	179575760	G	GC	T179575763C	NPHS2	NM_014625.3(NPHS2):c.104dup:p.Arg36fs	coding	Pathogenic
1	179882506	GCGGGCGA	G	A179882513G	TOR1AIP1	NM_015602.4(TOR1AIP1):c.11_17del:p.Asp4fs	coding	Pathogenic
1	179882687	AG	A	G179882688C	TOR1AIP1;TOR1AIP2;LOC112577517	NM_015602.3(TOR1AIP1):c.186del:p.Glu62fs	coding	Pathogenic
1	179884747	C	CTCA	A179884748T	TOR1AIP1	NM_001267578.1(TOR1AIP1):c.531_532insTCA:p.Arg178_Ser179insSer	coding	Benign
1	179901310	GA	G	A179901312G	TOR1AIP1	NM_015602.4(TOR1AIP1):c.663del:p.Glu222fs	coding	Pathogenic
1	180266430	T	TC	A180266437C	LHX4	NM_033343.4(LHX4):c.293dup:p.Thr99fs	coding	Pathogenic
1	180266436	CA	C	A180266438C	LHX4	NM_033343.4(LHX4):c.295del:p.Thr99fs	coding	Pathogenic
1	182382495	T	TAAATGA	T182382497A	GLUL	NM_001033044.4(GLUL):c.*1909_*1910insTCATTT	noncoding	Benign
1	183207931	CACAG	C	G183207935A	LAMC2	NM_005562.3(LAMC2):c.134_137del:p.Arg45fs	coding	Pathogenic/Likely_pathogenic
1	183227615	TCCCTGTCATA	AACCGC	T183227615A	LAMC2	NM_005562.3(LAMC2):c.1386_1396delinsAACCGC:p.Cys462_Asn466delinsTer	coding	Pathogenic
1	183232188	T	TG	A183232191G	LAMC2	NM_005562.3(LAMC2):c.1861dup:p.Asp621fs	coding	Pathogenic
1	183232772	ACCAGAAC	A	C183232774G	LAMC2	NM_005562.3(LAMC2):c.2137_2143del:p.Gln713fs	coding	Pathogenic
1	183235621	GA	G	A183235622G	LAMC2	NM_005562.3(LAMC2):c.2348del:p.Glu783fs	coding	Pathogenic/Likely_pathogenic
1	183236490	G	GT	G183236493T	LAMC2	NM_005562.3(LAMC2):c.2489dup:p.Leu830fs	coding	Pathogenic
1	183560238	ACTTTC	A	T183560242G	NCF2	NM_000433.3(NCF2):c.1321_1325del:p.Lys440_Glu441insTer	coding	Pathogenic
1	183563436	CAGCTT	C	C183563439T	NCF2	NM_000433.3(NCF2):c.1171_1175del:p.Lys391fs	coding	Pathogenic
1	183566939	TG	T	G183566941A	NCF2	NM_000433.3(NCF2):c.904del:p.His302fs	coding	Pathogenic
1	183567222	CGT	C	T183567224G	NCF2	NM_000433.3(NCF2):c.835_836del:p.Thr279fs	coding	Pathogenic
1	183574505	CT	C	T183574507G	NCF2	NM_001190789.1(NCF2):c.366+3093del	coding	Pathogenic
1	183574587	T	TTC	T183574591C	NCF2	NM_001190789.1(NCF2):c.366+3010_366+3011dup	coding	Pathogenic
1	183590266	AGTCCTTCTT	A	T183590271G	NCF2	NM_000433.3(NCF2):c.55_63del:p.Lys19_Asp21del	coding	Pathogenic/Likely_pathogenic
1	183590289	AC	A	C183590293T	NCF2	NM_000433.3(NCF2):c.40del:p.Val14fs	coding	Pathogenic
1	186001389	TC	T	C186001391A	HMCN1	NM_031935.3(HMCN1):c.4163del:p.Pro1388fs	coding	Pathogenic
1	186038044	AC	A	C186038045T	HMCN1	NM_031935.3(HMCN1):c.5851+10del	noncoding	Benign/Likely_benign
1	186152863	AC	TT	A186152863T	HMCN1	NM_031935.3(HMCN1):c.15010_15011delinsTT:p.Thr5004Phe	coding	Benign
1	186306567	CA	C	A186306568G	PRG4	NM_005807.5(PRG4):c.849del:p.Val284fs	coding	Pathogenic
1	186306910	AC	A	C186306913A	PRG4	NM_005807.5(PRG4):c.1194del:p.Thr399fs	coding	Pathogenic
1	186307135	GGAGCCTGCACCCACCACTCCCAAA	G	C186307150T	PRG4	NM_005807.6(PRG4):c.1431_1454del:p.Thr478_Thr485del	coding	Benign
1	186307628	CCT	C	C186307629G	PRG4	NM_005807.5(PRG4):c.1910_1911del:p.Pro637fs	coding	Pathogenic
1	186307629	CT	C	T186307630G	PRG4	NM_005807.5(PRG4):c.1911del:p.Glu638fs	coding	Pathogenic
1	186308555	GAA	G	A186308560C	PRG4	NM_005807.5(PRG4):c.2841_2842del:p.Lys947fs	coding	Pathogenic
1	186308739	CAA	C	A186308742G	PRG4	NM_005807.6(PRG4):c.3023_3024del:p.Lys1008fs	coding	Pathogenic
1	186308856	CAA	C	A186308858G	PRG4	NM_005807.6(PRG4):c.3139_3140del:p.Lys1047fs	coding	Pathogenic
1	186308994	CAA	C	A186308996G	PRG4	NM_005807.5(PRG4):c.3277_3278del:p.Lys1093fs	coding	Pathogenic
1	186311461	AC	A	C186311463A	PRG4	NM_005807.6(PRG4):c.3660del:p.Asn1221fs	coding	Pathogenic
1	186311558	A	AT	A186311560T	PRG4	NM_005807.6(PRG4):c.3756dup:p.Lys1253Ter	coding	Pathogenic/Likely_pathogenic
1	186312296	ACGTGCTATAGGACCTTCT	A	G186312298A	PRG4	NM_003292.3(TPR):c.*1657_*1674del	coding	Pathogenic
1	186313753	CC	AG	C186313753A	PRG4	NM_003292.3(TPR):c.*217_*218delinsCT	coding	Pathogenic
1	186911324	A	AT	A186911326T	PLA2G4A	NM_001311193.2(PLA2G4A):c.378+17114dup	coding	Pathogenic
1	186979472	TGTAA	T	A186979476T	PLA2G4A	NM_024420.2(PLA2G4A):c.2118+4_2118+7del	coding	Pathogenic
1	193122202	TG	T	G193122204C	CDC73	NM_024529.4(CDC73):c.4del:p.Ala2fs	coding	Pathogenic
1	193122205	C	CG	A193122208G	CDC73	NM_024529.5(CDC73):c.7dup:p.Asp3fs	coding	Pathogenic
1	193122208	ACG	CT	A193122208C	CDC73	NM_024529.4(CDC73):c.8_10delinsCT:p.Asp3fs	coding	Pathogenic
1	193122209	C	CGTGCTTAGCGTCCTGCGACA	A193122232G	CDC73	NM_024529.4(CDC73):c.12_31dup:p.Tyr11fs	coding	Pathogenic
1	193122211	TGCTTAGCGTCCTGCGACA	T	C193122213T	CDC73	NM_024529.4(CDC73):c.13_30del:p.Leu5_Gln10del	coding	Pathogenic
1	193122212	GCTTA	G	C193122213G	CDC73	NM_024529.4(CDC73):c.13_16del:p.Leu5fs	coding	Pathogenic
1	193122252	AT	A	T193122254G	CDC73	NM_024529.4(CDC73):c.54del:p.Ile18fs	coding	Pathogenic
1	193122252	ATT	A	T193122253G	CDC73	NM_024529.4(CDC73):c.53_54del:p.Ile18fs	coding	Pathogenic
1	193122281	CG	C	G193122285A	CDC73	NM_024529.4(CDC73):c.85del:p.Glu29fs	coding	Pathogenic
1	193125197	G	GT	A193125201T	CDC73	NM_024529.5(CDC73):c.220dup:p.Tyr74fs	coding	Pathogenic
1	193125238	TTATC	T	C193125246T	CDC73	NM_024529.4(CDC73):c.237+29_237+32del	noncoding	Benign
1	193130177	GA	G	A193130181T	CDC73	NM_024529.4(CDC73):c.245del:p.Asn82fs	coding	Pathogenic
1	193135538	C	CA	C193135542A	CDC73	NM_024529.4(CDC73):c.375dup:p.Arg126fs	coding	Pathogenic
1	193135541	AC	T	A193135541T	CDC73	NM_024529.4(CDC73):c.375_376delinsT:p.Lys125fs	coding	Pathogenic
1	193138110	AAG	A	G193138116T	CDC73	NM_024529.4(CDC73):c.451_452GA[2]:p.Arg152fs	coding	Pathogenic
1	193138141	C	CA	G193138145A	CDC73	NM_024529.4(CDC73):c.483dup:p.Glu162fs	coding	Pathogenic
1	193142015	CAGAG	C	A193142022T	CDC73	NM_024529.4(CDC73):c.679_680AG[3]:p.Arg229fs	coding	Pathogenic
1	193142015	C	CAG	T193142026A	CDC73	NM_024529.5(CDC73):c.679_680AG[6]:p.Val230fs	coding	Pathogenic
1	193142016	A	AAG	G193142017A	CDC73	NM_024529.4(CDC73):c.679_680insAG:p.Arg227fs	coding	Pathogenic
1	193142052	CA	C	A193142055G	CDC73	NM_024529.5(CDC73):c.718del:p.Ser240fs	coding	Pathogenic
1	193142060	AGG	C	A193142060C	CDC73	NM_024529.4(CDC73):c.723_725delinsC:p.Gly242fs	coding	Pathogenic
1	193142098	TGA	T	A193142116T	CDC73	NM_024529.4(CDC73):c.729+33GA[8]	noncoding	Benign
1	193147901	CTG	C	G193147903A	CDC73	NM_024529.4(CDC73):c.766_767del:p.Val256fs	coding	Pathogenic
1	193203822	ACTCC	A	C193203823T	CDC73	NM_024529.5(CDC73):c.1001_1004del:p.Thr334fs	coding	Pathogenic
1	193212081	TC	T	C193212086A	CDC73	NM_024529.4(CDC73):c.1052del:p.Pro351fs	coding	Pathogenic
1	193233080	AG	A	G193233085C	CDC73	NM_024529.5(CDC73):c.1247del:p.Gly416fs	coding	Pathogenic
1	193236343	T	TA	T193236345A	CDC73	NM_024529.5(CDC73):c.1405dup:p.Ile469fs	coding	Pathogenic
1	196492292	TTA	T	T196492293G	KCNT2	NM_198503.5(KCNT2):c.143_144del:p.Leu48fs	coding	Pathogenic
1	196679670	CAGA	C	A196679674T	CFH	NM_001014975.2(CFH):c.668_670AGA[1]:p.Lys224del	coding	Pathogenic
1	196679711	ATG	A	G196679713A	CFH	NM_000186.3(CFH):c.710_711del:p.Lys236_Cys237insTer	coding	Pathogenic
1	196690220	TCCCAGATGCA	T	C196690221T	CFH	NM_000186.3(CFH):c.1318_1327del:p.Pro440fs	coding	Pathogenic
1	196692560	CTTCT	C	C196692571T	CFH	NM_000186.4(CFH):c.1336+2322TTCT[2]	noncoding	Benign
1	196728505	CA	C	A196728506G	CFH	NM_000186.3(CFH):c.2397del:p.Glu800fs	coding	Pathogenic
1	196736943	A	AT	C196736946T	CFH	NM_000186.4(CFH):c.2535dup:p.Gln846fs	coding	Pathogenic
1	196950930	AAATT	A	A196950932T	CFHR2	NM_005666.4(CFHR2):c.334_337del:p.Ile112fs	coding	Benign
1	196958921	CAT	C	T196958923A	CFHR2	NM_005666.4(CFHR2):c.656_657del:p.Ile219fs	coding	Benign
1	196995785	GA	G	A196995787T	CFHR5	NM_030787.3(CFHR5):c.678del:p.Glu226fs	coding	Pathogenic
1	197052690	TC	T	C197052691A	F13B	NM_001994.2(F13B):c.1498del:p.Glu500fs	coding	Pathogenic
1	197061935	G	GGTT	T197061936G	F13B	NM_001994.2(F13B):c.299_300insAAC:p.Tyr100Ter	coding	Pathogenic
1	197090270	CT	C	T197090274G	ASPM	NM_018136.5(ASPM):c.9754del:p.Arg3252fs	coding	Pathogenic
1	197090276	TAG	T	A197090279T	ASPM	NM_018136.5(ASPM):c.9745_9746CT[1]:p.Tyr3250fs	coding	Pathogenic
1	197090334	CTTTAA	C	A197090338T	ASPM	NM_018136.5(ASPM):c.9686_9690del:p.Ile3229fs	coding	Pathogenic
1	197090339	AT	A	T197090344G	ASPM	NM_018136.5(ASPM):c.9685del:p.Ile3229fs	coding	Pathogenic
1	197090347	A	AC	A197090349C	ASPM	NM_018136.5(ASPM):c.9677dup:p.Cys3226fs	coding	Pathogenic
1	197090978	TC	T	C197090979T	ASPM	NM_018136.5(ASPM):c.9507del:p.Ile3170fs	coding	Pathogenic
1	197092013	GC	G	C197092014A	ASPM	NM_018136.5(ASPM):c.9337del:p.Ala3113fs	coding	Pathogenic
1	197092026	GA	G	A197092028G	ASPM	NM_018136.5(ASPM):c.9324del:p.Leu3109fs	coding	Pathogenic
1	197092040	GCT	G	C197092045G	ASPM	NM_018136.5(ASPM):c.9305_9306AG[2]:p.Arg3103fs	coding	Pathogenic
1	197093186	AT	A	T197093189C	ASPM	NM_018136.5(ASPM):c.9159del:p.Lys3053fs	coding	Pathogenic
1	197093227	T	TAATG	T197093232A	ASPM	NM_018136.5(ASPM):c.9115_9118dup:p.Tyr3040fs	coding	Pathogenic
1	197095767	T	TGTA	A197095768G	ASPM	NM_018136.5(ASPM):c.8987+230_8987+231insTAC	noncoding	Benign
1	197096140	TG	T	G197096142C	ASPM	NM_018136.5(ASPM):c.8844del:p.Lys2949fs	coding	Pathogenic
1	197100538	CTT	C	T197100539G	ASPM	NM_018136.5(ASPM):c.8711_8712del:p.Gln2904fs	coding	Pathogenic
1	197100548	AT	A	T197100549G	ASPM	NM_018136.5(ASPM):c.8702del:p.His2901fs	coding	Pathogenic
1	197100651	TG	T	G197100652T	ASPM	NM_018136.5(ASPM):c.8599del:p.Gln2867fs	coding	Pathogenic
1	197100653	TAA	T	A197100655G	ASPM	NM_018136.5(ASPM):c.8596_8597del:p.Leu2866fs	coding	Pathogenic
1	197100741	TTC	T	C197100743G	ASPM	NM_018136.5(ASPM):c.8508_8509del:p.Lys2837fs	coding	Pathogenic
1	197100743	CTG	C	G197100747T	ASPM	NM_018136.5(ASPM):c.8504_8505CA[1]:p.Gln2836fs	coding	Pathogenic
1	197100872	CA	C	A197100873T	ASPM	NM_018136.5(ASPM):c.8378del:p.Met2793fs	coding	Pathogenic
1	197101049	GTT	G	T197101054C	ASPM	NM_018136.5(ASPM):c.8200_8201del:p.Asn2734fs	coding	Pathogenic
1	197101052	TTTTC	T	T197101058G	ASPM	NM_018136.5(ASPM):c.8195_8198del:p.Arg2732fs	coding	Pathogenic
1	197101058	TTC	T	C197101060G	ASPM	NM_018136.5(ASPM):c.8191_8192del:p.Glu2731fs	coding	Pathogenic
1	197101114	TTTTC	T	C197101118G	ASPM	NM_018136.5(ASPM):c.8133_8136del:p.Lys2712fs	coding	Pathogenic
1	197101118	CTT	C	T197101120G	ASPM	NM_018136.5(ASPM):c.8131_8132del:p.Lys2711fs	coding	Pathogenic
1	197101207	G	GT	A197101209T	ASPM	NM_018136.5(ASPM):c.8043dup:p.Arg2682fs	coding	Pathogenic
1	197101389	ATC	A	C197101391G	ASPM	NM_018136.5(ASPM):c.7860_7861del:p.Gln2620fs	coding	Pathogenic
1	197101393	G	GT	A197101401T	ASPM	NM_018136.5(ASPM):c.7857dup:p.Gln2620fs	coding	Pathogenic
1	197101464	ACTTT	A	T197101467G	ASPM	NM_018136.5(ASPM):c.7783_7786del:p.Lys2595fs	coding	Pathogenic
1	197101467	TTC	T	C197101469G	ASPM	NM_018136.5(ASPM):c.7782_7783del:p.Lys2595fs	coding	Pathogenic
1	197101585	CT	C	T197101588G	ASPM	NM_018136.5(ASPM):c.7665del:p.Ala2556fs	coding	Pathogenic
1	197101665	CTGATA	C	G197101667A	ASPM	NM_018136.5(ASPM):c.7581_7585del:p.Tyr2527_Arg2529delinsTer	coding	Pathogenic
1	197101755	GTAATA	G	A197101758T	ASPM	NM_018136.5(ASPM):c.7491_7495del:p.Thr2499fs	coding	Pathogenic
1	197101942	C	CA	T197101948A	ASPM	NM_018136.5(ASPM):c.7308dup:p.Val2437fs	coding	Pathogenic
1	197101954	C	CT	G197101961T	ASPM	NM_018136.5(ASPM):c.7296dup:p.Ala2433fs	coding	Pathogenic
1	197102089	CAG	C	A197102092T	ASPM	NM_018136.5(ASPM):c.7158_7159CT[1]:p.Ser2387fs	coding	Pathogenic
1	197102122	G	GCAGT	T197102127C	ASPM	NM_018136.5(ASPM):c.7125_7128dup:p.Gln2377fs	coding	Pathogenic
1	197102331	TGTAA	T	A197102334G	ASPM	NM_018136.5(ASPM):c.6916_6919del:p.Leu2306fs	coding	Pathogenic/Likely_pathogenic
1	197102395	TGAGA	T	A197102401G	ASPM	NM_018136.5(ASPM):c.6848_6849TC[2]:p.Leu2285fs	coding	Pathogenic
1	197102518	AT	A	T197102519A	ASPM	NM_018136.5(ASPM):c.6732del:p.Tyr2245fs	coding	Pathogenic
1	197102561	GTTTC	G	T197102570A	ASPM	NM_018136.5(ASPM):c.6678_6681GAAA[2]:p.Arg2229fs	coding	Pathogenic
1	197102596	CTGTT	C	G197102598T	ASPM	NM_018136.5(ASPM):c.6651_6654del:p.Thr2218fs	coding	Pathogenic
1	197102702	TCTAA	T	A197102705C	ASPM	NM_018136.5(ASPM):c.6545_6548del:p.Val2182fs	coding	Pathogenic
1	197102737	C	CT	A197102741T	ASPM	NM_018136.5(ASPM):c.6513dup:p.Val2172fs	coding	Pathogenic
1	197102912	AAT	A	A197102915G	ASPM	NM_018136.5(ASPM):c.6335_6336AT[1]:p.Ile2113fs	coding	Pathogenic
1	197103066	TTC	T	C197103068T	ASPM	NM_018136.5(ASPM):c.6183_6184del:p.Lys2062fs	coding	Pathogenic
1	197103098	CT	C	T197103099G	ASPM	NM_018136.5(ASPM):c.6152del:p.Gln2051fs	coding	Pathogenic
1	197103387	T	TG	A197103389G	ASPM	NM_018136.5(ASPM):c.5863dup:p.Gln1955fs	coding	Pathogenic
1	197103565	TTCTAA	T	A197103569G	ASPM	NM_018136.5(ASPM):c.5681_5685del:p.Ile1894fs	coding	Pathogenic
1	197103659	AAG	A	A197103662T	ASPM	NM_018136.5(ASPM):c.5588_5589CT[1]:p.Leu1864fs	coding	Pathogenic
1	197104101	AT	A	T197104108G	ASPM	NM_018136.5(ASPM):c.5149del:p.Lys1716_Ile1717insTer	coding	Pathogenic
1	197104149	A	AC	A197104150C	ASPM	NM_018136.5(ASPM):c.5101_5102insG:p.Leu1701fs	coding	Pathogenic
1	197104391	AAT	A	T197104395A	ASPM	NM_018136.5(ASPM):c.4856_4857AT[1]:p.Ile1620fs	coding	Pathogenic
1	197104521	ACT	A	C197104524G	ASPM	NM_018136.5(ASPM):c.4726_4727AG[1]:p.Arg1576fs	coding	Pathogenic
1	197104667	CT	C	T197104670C	ASPM	NM_018136.5(ASPM):c.4583del:p.Lys1528fs	coding	Pathogenic
1	197104999	CAT	C	A197105002C	ASPM	NM_018136.5(ASPM):c.4248_4249AT[1]:p.Arg1416_Tyr1417insTer	coding	Pathogenic
1	197105055	G	GT	A197105057T	ASPM	NM_018136.5(ASPM):c.4195dup:p.Thr1399fs	coding	Pathogenic
1	197117879	A	AT	A197117881T	ASPM	NM_018136.5(ASPM):c.3974dup:p.Tyr1325Ter	coding	Pathogenic
1	197117893	C	CT	G197117894T	ASPM	NM_018136.5(ASPM):c.3960_3961insA:p.Val1321fs	coding	Pathogenic
1	197117907	ACT	A	C197117910T	ASPM	NM_018136.5(ASPM):c.3943_3944AG[1]:p.Arg1315fs	coding	Pathogenic
1	197121930	ATC	A	C197121932G	ASPM	NM_018136.5(ASPM):c.3853_3854del:p.Asp1285fs	coding	Pathogenic
1	197122045	T	TA	C197122054A	ASPM	NM_018136.5(ASPM):c.3742-10dup	noncoding	Benign/Likely_benign
1	197122236	AC	A	C197122238T	ASPM	NM_018136.5(ASPM):c.3663del:p.Arg1221fs	coding	Pathogenic
1	197122478	CCA	C	C197122481G	ASPM	NM_018136.5(ASPM):c.3504_3505TG[1]:p.Val1169fs	coding	Pathogenic
1	197122504	ATAGCG	A	A197122506C	ASPM	NM_018136.5(ASPM):c.3477_3481del:p.Ala1160fs	coding	Pathogenic
1	197122557	C	CA	C197122559A	ASPM	NM_018136.5(ASPM):c.3428dup:p.Leu1144fs	coding	Pathogenic
1	197124103	AACTT	A	T197124106C	ASPM	NM_018136.5(ASPM):c.3390+3_3390+6del	noncoding	Pathogenic
1	197125159	TC	T	C197125162A	ASPM	NM_018136.5(ASPM):c.2968del:p.Asp990fs	coding	Pathogenic
1	197128489	C	CA	C197128491A	ASPM	NM_018136.5(ASPM):c.2936dup:p.Arg980fs	coding	Pathogenic
1	197139830	TTTTG	T	G197139838T	ASPM	NM_018136.5(ASPM):c.1955_1958CAAA[1]:p.Asn653fs	coding	Pathogenic
1	197142354	TTC	T	C197142360G	ASPM	NM_018136.5(ASPM):c.1892_1893GA[2]:p.Lys633fs	coding	Pathogenic
1	197142450	CTTTT	C	T197142451G	ASPM	NM_018136.5(ASPM):c.1798_1801del:p.Lys600fs	coding	Pathogenic
1	197142521	GCT	G	C197142524T	ASPM	NM_018136.5(ASPM):c.1727_1728AG[1]:p.Ser577fs	coding	Pathogenic/Likely_pathogenic
1	197142522	CTCTT	C	C197142528T	ASPM	NM_018136.5(ASPM):c.1722_1725AAGA[1]:p.Lys576fs	coding	Pathogenic
1	197142524	CTT	C	T197142526C	ASPM	NM_018136.5(ASPM):c.1726_1727del:p.Lys576fs	coding	Pathogenic
1	197142579	TAA	T	A197142580C	ASPM	NM_018136.5(ASPM):c.1671_1672del:p.Ser557fs	coding	Pathogenic
1	197142616	GAAGAT	G	T197142621A	ASPM	NM_018136.5(ASPM):c.1631_1635del:p.Tyr544fs	coding	Pathogenic
1	197142661	CT	C	T197142666C	ASPM	NM_018136.5(ASPM):c.1590del:p.Lys530_Val531insTer	coding	Pathogenic
1	197142720	TCA	T	C197142721G	ASPM	NM_018136.5(ASPM):c.1530_1531del:p.Glu511fs	coding	Pathogenic
1	197142838	ATTTAGGAT	A	T197142840A	ASPM	NM_018136.5(ASPM):c.1406_1413del:p.Asn469fs	coding	Pathogenic
1	197142841	TAG	AA	T197142841A	ASPM	NM_018136.5(ASPM):c.1409_1411delinsTT:p.Pro470fs	coding	Pathogenic
1	197142898	C	CA	T197142904A	ASPM	NM_018136.5(ASPM):c.1353dup:p.Glu452Ter	coding	Pathogenic
1	197142985	GGACTTGA	G	C197142988A	ASPM	NM_018136.5(ASPM):c.1260_1266del:p.Gln421fs	coding	Pathogenic
1	197143012	GTACTT	G	T197143016A	ASPM	NM_018136.5(ASPM):c.1235_1239del:p.Lys412fs	coding	Pathogenic
1	197143072	TA	T	A197143073G	ASPM	NM_018136.5(ASPM):c.1179del:p.Asn394fs	coding	Pathogenic
1	197143096	ACT	A	C197143099G	ASPM	NM_018136.5(ASPM):c.1152_1153AG[1]:p.Glu385fs	coding	Pathogenic
1	197143249	CT	C	T197143250A	ASPM	NM_018136.5(ASPM):c.1002del:p.Leu334_Val335insTer	coding	Pathogenic
1	197143446	ACT	A	C197143447T	ASPM	NM_018136.5(ASPM):c.804_805del:p.Lys268fs	coding	Pathogenic
1	197143447	CTT	C	T197143450G	ASPM	NM_018136.5(ASPM):c.803_804del:p.Lys268fs	coding	Pathogenic
1	197143531	CAG	C	A197143536T	ASPM	NM_018136.5(ASPM):c.715_716CT[2]:p.Ser240fs	coding	Pathogenic
1	197143614	AT	A	T197143616A	ASPM	NM_018136.5(ASPM):c.637del:p.Ile213fs	coding	Pathogenic
1	197143727	A	AAC	T197143731C	ASPM	NM_018136.5(ASPM):c.523_524dup:p.Asn176fs	coding	Pathogenic
1	197143957	CT	C	T197143962C	ASPM	NM_018136.5(ASPM):c.440del:p.Lys147fs	coding	Pathogenic
1	197146319	GAC	G	C197146321G	ASPM	NM_018136.5(ASPM):c.117_118del:p.Leu41fs	coding	Pathogenic
1	197146360	GC	G	C197146364G	ASPM	NM_018136.5(ASPM):c.77del:p.Gly26fs	coding	Pathogenic
1	197268466	G	GT	C197268467T	CRB1	NM_201253.3(CRB1):c.54_55insT:p.Leu19fs	coding	Pathogenic
1	197268467	C	CT	A197268470T	CRB1	NM_201253.3(CRB1):c.57dup:p.Ile20fs	coding	Pathogenic
1	197328603	T	TTG	A197328610T	CRB1	NM_201253.3(CRB1):c.253_254TG[4]:p.Asn87Ter	coding	Pathogenic
1	197328630	CTT	C	T197328632C	CRB1	NM_201253.3(CRB1):c.281_282del:p.Phe94fs	coding	Pathogenic
1	197328758	GC	G	C197328761T	CRB1	NM_201253.3(CRB1):c.410del:p.Pro137fs	coding	Pathogenic
1	197328787	GAGAT	G	A197328792C	CRB1	NM_201253.3(CRB1):c.437_440AGAT[1]:p.Asp148fs	coding	Pathogenic
1	197328828	TG	T	G197328832C	CRB1	NM_201253.3(CRB1):c.481del:p.Ala161fs	coding	Pathogenic
1	197328855	TG	T	G197328857T	CRB1	NM_201253.3(CRB1):c.506del:p.Gly169fs	coding	Pathogenic/Likely_pathogenic
1	197328872	G	GTGTCCCAGGA	A197328884G	CRB1	NM_201253.3(CRB1):c.523_532dup:p.Tyr178fs	coding	Pathogenic
1	197328960	TGAAATAG	T	A197328964G	CRB1	NM_201253.3(CRB1):c.613_619del:p.Ile205fs	coding	Pathogenic
1	197344288	CTG	C	T197344291A	CRB1	NM_201253.3(CRB1):c.661_662TG[1]:p.Cys221_Glu222delinsTer	coding	Pathogenic
1	197344356	TG	T	G197344361C	CRB1	NM_201253.3(CRB1):c.733del:p.Ala245fs	coding	Pathogenic
1	197344427	GC	A	G197344427A	CRB1	NM_201253.3(CRB1):c.799_800delinsA:p.Ala267fs	coding	Pathogenic
1	197344428	CCAGT	C	G197344431A	CRB1	NM_201253.3(CRB1):c.803_806del:p.Ser268fs	coding	Pathogenic
1	197356833	TAC	T	C197356837G	CRB1	NM_201253.3(CRB1):c.993_994CA[1]:p.Thr332fs	coding	Pathogenic
1	197356879	AC	A	C197356883T	CRB1	NM_201253.3(CRB1):c.1041del:p.Cys348fs	coding	Pathogenic
1	197356988	C	CTG	A197356992G	CRB1	NM_201253.3(CRB1):c.1148_1149dup:p.Ile384fs	coding	Pathogenic
1	197356990	G	GT	A197356992T	CRB1	NM_201253.3(CRB1):c.1149dup:p.Ile384fs	coding	Pathogenic
1	197421160	CTGTACCCATCAGCAATGTCTAAATAATGGAACATGCATCCCTCACTTCCAAGATGGCCAGCATGGATTCAGCTGCCTATGTCCATCTGGCTACACCGGGTCCCTGTGTGAAATCGCAACCACACTTTCATTTGAGGGCGATGGCTTCCTGTGGGTCAAAAGTGGCTCAGTGACAACCAAGGGCTCAGTTTGTAACATAGCCCTCAGGTTTCAGACTGTTCAGCCAATGGCTCTTCTACTTTTCCGAAGCAACAGGGATGTGTTTGTGAAGCTGGAGCTGCTAAGTGGCTACATTCACTTATCAATTCAGGTCAATAATCAGTCAAAGGTGCTTCTGTTCATTTCCCACAACACCAGCGATGGAGAGTGGCATTTCGTGGAGGTAATATTTGCAGAGGCTGTGACCCT	C	G197421162A	CRB1	NM_201253.3(CRB1):c.1334_1740del:p.Cys445fs	coding	Pathogenic
1	197421256	CG	C	G197421259T	CRB1	NM_201253.3(CRB1):c.1431del:p.Ser478fs	coding	Pathogenic
1	197421282	C	CACTT	T197421287A	CRB1	NM_201253.3(CRB1):c.1455_1458dup:p.Ser487fs	coding	Pathogenic
1	197421284	C	CT	C197421288T	CRB1	NM_201253.3(CRB1):c.1459dup:p.Ser487fs	coding	Pathogenic
1	197421310	GT	G	T197421311G	CRB1	NM_201253.3(CRB1):c.1483del:p.Trp495fs	coding	Pathogenic
1	197421524	GA	G	A197421525G	CRB1	NM_201253.3(CRB1):c.1697del:p.Glu566fs	coding	Pathogenic
1	197421597	AATGC	A	G197421600C	CRB1	NM_201253.3(CRB1):c.1772_1775del:p.Cys591fs	coding	Pathogenic
1	197421798	AC	A	C197421799A	CRB1	NM_201253.3(CRB1):c.1971del:p.Asn657fs	coding	Pathogenic
1	197427553	T	TCTCCATGTTGAAG	C197427555T	CRB1	NM_201253.3(CRB1):c.2229_2230insTCCATGTTGAAGC:p.Arg744fs	coding	Pathogenic
1	197427566	AC	A	C197427568A	CRB1	NM_201253.3(CRB1):c.2243del:p.Pro748fs	coding	Pathogenic
1	197427650	GACTCCAA	G	C197427655T	CRB1	NM_201253.3(CRB1):c.2330_2336del:p.Pro777fs	coding	Pathogenic/Likely_pathogenic
1	197427855	AATGGTGG	A	G197427858T	CRB1	NM_201253.3(CRB1):c.2533_2539del:p.Gly845fs	coding	Pathogenic
1	197427901	AC	A	C197427903A	CRB1	NM_201253.3(CRB1):c.2578del:p.Gln860fs	coding	Pathogenic
1	197429449	TCCAAC	T	A197429452C	CRB1	NM_201253.3(CRB1):c.2680_2684del:p.Asn894fs	coding	Pathogenic
1	197434715	A	AT	G197434717T	CRB1	NM_201253.3(CRB1):c.2853dup:p.Ala952fs	coding	Pathogenic
1	197434972	G	GTGACCCTTTCCATGACAGACCCACTGTCCCAGAC	C197435007T	CRB1	NM_201253.3(CRB1):c.3110_3143dup:p.Ser1049fs	coding	Pathogenic
1	197435006	CCTCCAGGTGGC	A	C197435006A	CRB1	NM_201253.3(CRB1):c.3143_3154delinsA:p.Thr1048fs	coding	Pathogenic
1	197435207	GT	G	T197435210C	CRB1	NM_201253.3(CRB1):c.3347del:p.Phe1116fs	coding	Pathogenic
1	197435245	AT	A	T197435246C	CRB1	NM_201253.3(CRB1):c.3383del:p.Ile1128fs	coding	Pathogenic
1	197435270	GC	G	C197435271T	CRB1	NM_201253.3(CRB1):c.3408del:p.Cys1137fs	coding	Pathogenic
1	197435322	CTG	C	T197435325A	CRB1	NM_201253.3(CRB1):c.3460_3461TG[1]:p.Cys1154_Glu1155delinsTer	coding	Pathogenic
1	197435404	T	TG	C197435406G	CRB1	NM_201253.3(CRB1):c.3542dup:p.Cys1181fs	coding	Pathogenic
1	197435531	GT	A	G197435531A	CRB1	NM_201253.3(CRB1):c.3668_3669delinsA:p.Gln1222_Cys1223insTer	coding	Pathogenic
1	197435574	T	TTGCC	C197435580G	CRB1	NM_201253.3(CRB1):c.3713_3716dup:p.Cys1240fs	coding	Pathogenic
1	197442274	CG	C	G197442275A	CRB1	NM_201253.3(CRB1):c.3988del:p.Glu1330fs	coding	Pathogenic/Likely_pathogenic
1	197442295	A	AAGC	C197442302A	CRB1	NM_201253.3(CRB1):c.4005+4AGC[3]	coding	Benign/Likely_benign
1	197477696	CA	C	A197477697C	CRB1	NM_201253.3(CRB1):c.4039del:p.Thr1347fs	coding	Pathogenic
1	197477774	AAGGGCAACTC	A	C197477779A	CRB1	NM_201253.3(CRB1):c.4121_4130del:p.Ala1374fs	coding	Pathogenic
1	197477871	CT	C	T197477872G	CRB1	NM_201253.3(CRB1):c.4214del:p.Leu1405fs	coding	Pathogenic
1	198735211	AG	T	A198735211T	PTPRC	NM_002838.5(PTPRC):c.2362_2363delinsT:p.Arg788fs	coding	Pathogenic
1	198748089	GTT	G	T198748104C	PTPRC	NM_002838.5(PTPRC):c.2848-5_2848-4del	noncoding	Benign
1	200111336	C	CAA	G200111352A	NR5A2	NM_205860.3(NR5A2):c.1230+29_1230+30dup	noncoding	Benign
1	200554602	CT	C	T200554606C	KIF14	NM_014875.3(KIF14):c.4432del:p.Ser1478fs	coding	Pathogenic
1	200598303	CCAA	C	A200598305T	KIF14	NM_014875.3(KIF14):c.2480_2482del:p.Val827del	coding	Pathogenic
1	200603950	TTC	T	C200603952G	KIF14	NM_014875.3(KIF14):c.1750_1751del:p.Glu584fs	coding	Pathogenic
1	200618477	TA	T	A200618478G	KIF14	NM_014875.3(KIF14):c.246del:p.Asn83fs	coding	Pathogenic
1	200666555	GA	G	A200666558G	DDX59	NM_001031725.6(DDX59):c.185del:p.Phe62fs	coding	Pathogenic
1	201039955	AGTAGCTCT	A	A201039958T	CACNA1S	NM_000069.3(CACNA1S):c.5490_5497del:p.Leu1832fs	coding	Benign/Likely_benign
1	201043381	CT	C	T201043383G	CACNA1S	NM_000069.3(CACNA1S):c.4947del:p.Asp1650fs	coding	Pathogenic
1	201043454	CTGAT	C	A201043457G	CACNA1S	NM_000069.3(CACNA1S):c.4871_4874del:p.Asn1624fs	coding	Pathogenic
1	201048559	C	CT	C201048561T	CACNA1S	NM_000069.3(CACNA1S):c.4441+22dup	noncoding	Benign
1	201061970	CGT	C	T201061972A	CACNA1S	NM_000069.3(CACNA1S):c.3025_3026del:p.Thr1009fs	coding	Pathogenic
1	201065878	AG	A	G201065880A	CACNA1S	NM_000069.3(CACNA1S):c.2812del:p.Leu938fs	coding	Pathogenic
1	201076950	GT	G	T201076952G	CACNA1S	NM_000069.3(CACNA1S):c.1796del:p.Asn599fs	coding	Pathogenic
1	201089425	AG	A	G201089428C	CACNA1S	NM_000069.3(CACNA1S):c.732del:p.Cys245fs	coding	Pathogenic
1	201091769	TG	T	G201091771A	CACNA1S	NM_000069.3(CACNA1S):c.564del:p.Ile189fs	coding	Pathogenic
1	201109963	T	TCA	G201109966C	CACNA1S	NM_000069.3(CACNA1S):c.258+199_258+200dup	noncoding	Benign
1	201317612	TC	T	C201317614G	PKP1	NM_001005337.3(PKP1):c.889del:p.Arg297fs	coding	Pathogenic
1	201332609	G	GCCCCCACCCTGA	T201332613C	PKP1	NM_001005337.3(PKP1):c.*2571_*2572insCCACCCTGACCC	noncoding	Benign
1	201359629	T	TG	T201359632G	TNNT2	NM_001276345.2(TNNT2):c.844dup:p.Gln282fs	coding	Pathogenic
1	201361970	ATCT	A	C201361981T	TNNT2	NM_001276345.2(TNNT2):c.650_652AGA[3]:p.Lys220del	coding	Pathogenic/Likely_pathogenic
1	201363376	TCTC	T	C201363386T	TNNT2	NM_001276345.2(TNNT2):c.508_510GAG[3]:p.Glu173del	coding	Pathogenic
1	201364378	AAGG	A	G201364381A	TNNT2	NM_001276345.2(TNNT2):c.412-6_412-4del	noncoding	Benign/Likely_benign
1	201364468	TG	T	G201364473A	TNNT2	NM_001276345.2(TNNT2):c.412-94del	noncoding	Benign/Likely_benign
1	201365268	ACTCATT	A	T201365270A	TNNT2	NM_001276345.2(TNNT2):c.328_333del:p.Asn110_Glu111del	coding	Pathogenic
1	201369848	GAG	AA	G201369848A	TNNT2	NM_001276345.2(TNNT2):c.68-5_68-3delinsTT	noncoding	Benign/Likely_benign
1	201372047	CAGAAG	C	A201372053T	TNNT2	NM_001276345.2(TNNT2):c.53-11_53-7del	noncoding	Benign/Likely_benign
1	201372052	GA	G	A201372053G	TNNT2	NM_001276345.2(TNNT2):c.53-12del	noncoding	Benign
1	201386876	ACC	A	C201386877A	LAD1	NM_005558.4(LAD1):c.483_484del:p.Leu161fs	coding	Benign
1	202733510	TG	T	G202733513C	KDM5B	NM_006618.5(KDM5B):c.3799del:p.Gln1267fs	coding	Pathogenic
1	202735523	TC	T	C202735525T	KDM5B	NM_006618.5(KDM5B):c.3328del:p.Glu1110fs	coding	Pathogenic
1	202767014	T	TA	C202767016A	KDM5B	NM_006618.5(KDM5B):c.622dup:p.Tyr208fs	coding	Pathogenic
1	203217822	C	CAGACCATGGCCCCGCCCAGTCCCT	T203217847A	CHIT1	NM_003465.3(CHIT1):c.1049_1072dup:p.Trp358Ter	coding	Benign/Likely_benign
1	203219251	CCCACTGGTTGTCCCGGAAGATGTAGGGCA	C	A203219254T	CHIT1	NM_003465.3(CHIT1):c.965_993del:p.Val322fs	coding	Benign
1	204166246	GAGC	G	C204166258T	REN	NM_000537.4(REN):c.36_38GCT[3]:p.Leu16del	coding	Pathogenic
1	204190483	CT	C	T204190484C	KISS1	NM_002256.4(KISS1):c.417del:p.Ter139TrpextTer?	coding	Benign
1	205059098	TG	T	G205059100C	CNTN2	NM_005076.5(CNTN2):c.504del:p.Trp168fs	coding	Pathogenic
1	207321806	TC	T	C207321808T	CD55	NM_001114752.1(CD55):c.43delC:p.Leu15Serfs	coding	Pathogenic
1	207322389	TG	T	G207322391C	CD55	NM_000574.5(CD55):c.110del:p.Gly37fs	coding	Pathogenic
1	207322430	AA	CCTT	A207322430C	CD55	NM_000574.5(CD55):c.149_150delinsCCTT:p.Glu50fs	coding	Pathogenic
1	207485454	TTC	T	C207485456G	CR2	NM_001006658.2(CR2):c.3189-8_3189-7del	noncoding	Benign
1	207759651	TG	T	G207759653T	CD46	NM_172351.3(CD46):c.404del:p.Gly135fs	coding	Pathogenic
1	207761313	ATT	A	T207761315G	CD46	NM_172351.3(CD46):c.542_543del:p.Val180_Phe181insTer	coding	Pathogenic
1	207767051	CAG	C	G207767053T	CD46	NM_172351.3(CD46):c.714_715del:p.Gln238fs	coding	Pathogenic
1	207767112	AG	A	G207767115T	CD46	NM_172351.3(CD46):c.776del:p.Gly259fs	coding	Pathogenic
1	209615336	TCTCCAGTC	T	C209615339G	LAMB3	NM_000228.3(LAMB3):c.3446_3453del:p.Gly1149fs	coding	Pathogenic
1	209615395	T	TC	A209615398C	LAMB3	NM_000228.3(LAMB3):c.3394dup:p.Glu1132fs	coding	Pathogenic
1	209618518	AC	A	C209618520A	LAMB3	NM_000228.3(LAMB3):c.2842del:p.Val948fs	coding	Pathogenic
1	209618591	CTG	C	T209618594G	LAMB3	NM_000228.3(LAMB3):c.2766_2767CA[1]:p.Thr923fs	coding	Pathogenic
1	209618670	A	AC	A209618672C	LAMB3	NM_000228.3(LAMB3):c.2702-12dup	noncoding	Benign
1	209623516	TG	T	G209623519T	LAMB3	NM_000228.3(LAMB3):c.2346del:p.Thr783fs	coding	Pathogenic/Likely_pathogenic
1	209623561	C	CAA	G209623564A	LAMB3	NM_000228.3(LAMB3):c.2300_2301dup:p.Val768fs	coding	Pathogenic
1	209623574	GC	G	C209623576G	LAMB3	NM_000228.3(LAMB3):c.2288del:p.Gly763fs	coding	Pathogenic/Likely_pathogenic
1	209625800	G	GC	T209625802C	LAMB3	NM_000228.3(LAMB3):c.1823dup:p.Ser608fs	coding	Pathogenic/Likely_pathogenic
1	209626875	CCT	C	C209626876G	LAMB3	NM_000228.3(LAMB3):c.1587_1588del:p.Gly530fs	coding	Pathogenic
1	209627424	CACACG	C	A209627425G	LAMB3	NM_000228.3(LAMB3):c.1439_1443del:p.Pro480fs	coding	Pathogenic
1	209627501	TTG	T	T209627502G	LAMB3	NM_000228.3(LAMB3):c.1365_1366del:p.Asn456fs	coding	Pathogenic/Likely_pathogenic
1	209627522	CCA	C	A209627524T	LAMB3	NM_000228.3(LAMB3):c.1344_1345del:p.Ser448fs	coding	Pathogenic
1	209628131	GC	G	C209628134G	LAMB3	NM_000228.3(LAMB3):c.1191del:p.Gln398fs	coding	Pathogenic
1	209629834	A	ATTGTCACACACACCTCCATATGCCCCCTGGCTGGCGGCAAACACAGCGGGGTCAAAGTGACATGTCTCTGAGTGCCC	A209629912T	LAMB3	NM_000228.3(LAMB3):c.958_1034dup:p.Asn345fs	coding	Pathogenic
1	209630653	CA	C	A209630654G	LAMB3	NM_000228.3(LAMB3):c.904del:p.Trp302fs	coding	Pathogenic
1	209634510	GCT	G	C209634513G	LAMB3	NM_000228.3(LAMB3):c.497_498AG[1]:p.Ser167fs	coding	Pathogenic/Likely_pathogenic
1	209634547	G	GA	G209634549A	LAMB3	NM_000228.3(LAMB3):c.463dup:p.Ser155fs	coding	Pathogenic/Likely_pathogenic
1	209634574	T	TA	C209634576A	LAMB3	NM_000228.3(LAMB3):c.436dup:p.Tyr146fs	coding	Pathogenic
1	209650070	C	CA	G209650072A	LAMB3	NM_000228.3(LAMB3):c.76dup:p.Cys26fs	coding	Pathogenic
1	209650115	A	AG	C209650119G	LAMB3	NM_000228.3(LAMB3):c.31dup:p.Leu11fs	coding	Pathogenic
1	209786741	TA	T	A209786745C	IRF6	NM_006147.4(IRF6):c.*1678del	noncoding	Benign
1	209788499	ATGCGGTACAGC	A	G209788503T	IRF6	NM_006147.4(IRF6):c.1314_1324del:p.Gln438fs	coding	Pathogenic
1	209788593	TGAAATCACCA	T	T209788598A	IRF6	NM_006147.4(IRF6):c.1221_1230del:p.Gly408fs	coding	Pathogenic
1	209788628	GC	G	C209788630A	IRF6	NM_006147.4(IRF6):c.1195del:p.Ala399fs	coding	Pathogenic
1	209790667	GTCCAGCAGCTTGCTAGTG	T	G209790667T	IRF6	NM_006147.4(IRF6):c.870_888delinsA:p.Phe290_Asp296delinsLeu	coding	Pathogenic
1	209790834	TG	T	G209790836T	IRF6	NM_006147.4(IRF6):c.720del:p.Thr240_Met241insTer	coding	Pathogenic
1	209790868	CT	C	T209790870G	IRF6	NM_006147.4(IRF6):c.686del:p.Lys229fs	coding	Pathogenic
1	209801280	CG	C	G209801283T	IRF6	NM_006147.4(IRF6):c.133del:p.Arg45fs	coding	Pathogenic
1	209801305	GG	C	G209801305C	IRF6	NM_006147.4(IRF6):c.108_109delinsG:p.Phe36fs	coding	Pathogenic
1	209801384	T	TA	G209801386A	IRF6	NM_006147.4(IRF6):c.29dup:p.Pro12fs	coding	Pathogenic
1	209802060	A	AG	T209802065G	IRF6	NM_006147.4(IRF6):c.-75-21dup	noncoding	Benign
1	211481277	GCT	G	T211481279C	RD3	NM_001164688.1(RD3):c.137_138del:p.Glu46fs	coding	Pathogenic
1	211491956	A	AG	A211491957G	RD3	NM_183059.2(RD3):c.-204_-203insC	noncoding	Benign
1	211671216	CTCATACA	T	C211671216T	NEK2	NM_002497.4(NEK2):c.617_624delinsA:p.Leu206fs	coding	Pathogenic
1	212863739	TG	T	G212863741C	FLVCR1	NM_014053.4(FLVCR1):c.755del:p.Gly252fs	coding	Pathogenic/Likely_pathogenic
1	212888496	ATGAC	A	A212888499G	FLVCR1	NM_014053.4(FLVCR1):c.1318_1321del:p.Thr440fs	coding	Pathogenic/Likely_pathogenic
1	212888556	G	GA	G212888559A	FLVCR1	NM_014053.4(FLVCR1):c.1377dup:p.Gly460fs	coding	Pathogenic
1	212895200	C	CTGAT	T212895207A	FLVCR1	NM_014053.4(FLVCR1):c.1594-13_1594-10dup	noncoding	Benign
1	212898419	A	ATAAT	G212898421A	FLVCR1	NM_014053.4(FLVCR1):c.*3130_*3131insAATT	noncoding	Benign
1	214383705	GCCTCCT	G	C214383719A	PTPN14	NM_005401.5(PTPN14):c.2132_2134AGG[4]:p.Glu715_Glu716del	coding	Benign
1	214414669	T	TAA	G214414670A	PTPN14	NM_005401.5(PTPN14):c.401_402insTT:p.Leu135fs	coding	Pathogenic
1	214614833	TTGAAAATGAAAAAACCGAGGGTACAAACC	T	T214614840G	CENPF	NM_016343.4(CENPF):c.171_199del:p.Asn57fs	coding	Pathogenic
1	214645482	C	CA	C214645491A	CENPF	NM_016343.4(CENPF):c.5920dup:p.Thr1974fs	coding	Pathogenic
1	214651758	C	CT	A214651760T	CENPF	NM_016343.4(CENPF):c.8033dup:p.Asp2679fs	coding	Pathogenic
1	215628929	GT	G	T215628931A	USH2A	NM_206933.3(USH2A):c.15403del:p.Thr5135fs	coding	Pathogenic
1	215628961	CA	C	A215628962G	USH2A	NM_206933.4(USH2A):c.15371del:p.Leu5124fs	coding	Pathogenic
1	215634555	GA	G	A215634556T	USH2A	NM_206933.3(USH2A):c.15200del:p.Ile5067fs	coding	Pathogenic/Likely_pathogenic
1	215634675	CTTTTTCCCAGGAGTTGTT	GC	C215634675G	USH2A	NM_206933.4(USH2A):c.15063_15081delinsGC:p.Thr5022fs	coding	Pathogenic/Likely_pathogenic
1	215639228	GAA	G	A215639232G	USH2A	NM_206933.3(USH2A):c.14977_14978del:p.Phe4993fs	coding	Pathogenic
1	215640630	AC	A	C215640631A	USH2A	NM_206933.4(USH2A):c.14895del:p.Val4965_Leu4966insTer	coding	Pathogenic
1	215640645	G	GTC	T215640647C	USH2A	NM_206933.4(USH2A):c.14880_14881insGA:p.Leu4961fs	coding	Pathogenic
1	215647525	CT	C	T215647530G	USH2A	NM_206933.4(USH2A):c.14787del:p.Glu4930fs	coding	Pathogenic/Likely_pathogenic
1	215648580	TC	T	C215648582T	USH2A	NM_206933.4(USH2A):c.14529del:p.Thr4844fs	coding	Pathogenic
1	215648606	GGA	G	A215648610G	USH2A	NM_206933.3(USH2A):c.14500_14501TC[1]:p.Pro4835fs	coding	Pathogenic
1	215648655	TCGGTCCTTTGCTGCAA	T	G215648657A	USH2A	NM_206933.4(USH2A):c.14439_14454del:p.Asn4812_Cys4813insTer	coding	Pathogenic
1	215650702	C	CATGGAACG	T215650711A	USH2A	NM_206933.4(USH2A):c.14225_14232dup:p.Val4745fs	coding	Pathogenic
1	215671073	C	CT	A215671075T	USH2A	NM_206933.4(USH2A):c.14031dup:p.Ala4678fs	coding	Pathogenic
1	215671079	GTCTTCTGTATAATTC	G	T215671080G	USH2A	NM_206933.4(USH2A):c.14011_14025del:p.Glu4671_Arg4675del	coding	Pathogenic
1	215671206	CA	C	A215671209G	USH2A	NM_206933.3(USH2A):c.13898del:p.Pro4632_Leu4633insTer	coding	Pathogenic/Likely_pathogenic
1	215673951	GCTTTGTCTACTATGCACGTTTAGGTGGATGGAGGTTGGGGACACCTTGCATCCCATTTTTAGAGTCTTCATTAGAACTGACCAAGGGCTCAGGCAATAGAAAGGTCAGCAGTGGCTTACTCTCAGAAAACCGAGACATGGCTACCTACCTGTGAAATGGCTTCAGCTGGTTTACTATATATGACTGCATACCAAAAGAATTATGAGTTGTGTTTATGTGTATGATTTTAGTTTCTCTTTCAAATAGTTCACGGATGAAGAGGGTATAATTGATGATATCACCATTTGTTCTCACTGGAGGGTCCCAGTTCACTAAGATCTCCTGAGGACCCCTGGCCTGCAATTTTGGAGGTTCCATCCCTGAGGGTGCTGAGGGGCTGGTTCGATCTTTGACAAGAGGACTCAAAATACCCCCTTGGCTGTTGCTGGCAGTTACTGTGTAGCTATACTCCACACCTGGGGTGAGAGTAAAATCACGATAGCGTGTTTCCAAGCCTGTATATACAATGGTTCCATCCCTCCTAAGTTCATAACTTCTGATCTGGCCATTTGGGTTTCTTGGAGGTTTCCAGGTGATTTCTATTGATTCTGAGCCTGTGACTTGCAATGTTGGAGAGTCCATGTTCTCTGGCAGGGCCTCCATTGTCCAGGCAGATTTTGACACACTAGCTGTGCAACCTCCATTCGTGCAGGCTACAAGGGAGAAGTTATACTGAGAGTAAGGCTGCAGGTGGGAAACCAGCAGGCACAGGCCCTGGCCAGCAAGGGACTCTTTATTATCATATCTAACTAAATATTTAGTAATCTTTCCATTTTGCACTGTGGGCGGTGACCAACATACATTCATTTGAGTGGCACTGACGGCCCAAAGATCTGGAGGGCTGACTTCTGATGGAGCAGCCTCCAGAGTTGTGATGCTGGTGGGTTTGCTGGTGGAGCATCCTCCACTCGTGCAGGCTTGGAGTGCATAGCTATAGGTGGAAAAAGGAAGAAGCTCTTCATCAGTGTAATTGAAAGTCACAGGATCAAAGCTAAAAGGATAGAGCATTTCATTCCTTTGAAGCCTATAGGACTGGATAATACCATTAGACTGTTCTGGTGGGATCCAGGAAATCAGCAGTTTTTGGGGATTCATAGAAACATAGGATATCACAGGTGGAGAGAGACCTTCTGGAGGTGCTTGCAATGTCCTCACCACATTCCAAGAGCTACAGGTATGCCCAGCTGAATTCCAAGTGTAGATTTTATATTCACACTGCGTCCATGGTTGCAAACCTGTGTCATTATACATAAATGTATTCCTTTCAGTGTTATATTCTGTGAAAACAATTTTCTCGTCGGCCTGGATTGTCTGATTTCCCCAAGCTTTTCCCTCGAAGCATCTGCGAATCACTTCATAGCGAATTATTTTTCCATTTGGGTTAACAGGCTCAGACCAGCTCAGCTCAACACTGGTGGACTTCA	G	T215673953A	USH2A	NM_206933.4(USH2A):c.12497_13811+148del	noncoding	Pathogenic
1	215674210	GA	G	A215674211G	USH2A	NM_206933.3(USH2A):c.13700del:p.Leu4567fs	coding	Pathogenic
1	215674323	AG	A	G215674327C	USH2A	NM_206933.4(USH2A):c.13587del:p.Ser4530fs	coding	Pathogenic
1	215674445	C	CCA	T215674447A	USH2A	NM_206933.4(USH2A):c.13465_13466insTG:p.Gly4489fs	coding	Pathogenic
1	215674536	AT	A	T215674538C	USH2A	NM_206933.3(USH2A):c.13374del:p.Glu4458fs	coding	Pathogenic
1	215674563	GAGAGTC	G	A215674564C	USH2A	NM_206933.4(USH2A):c.13342_13347del:p.Asp4448_Ser4449del	coding	Pathogenic/Likely_pathogenic
1	215674564	AGAGTCCATGTTC	CAAG	A215674564C	USH2A	NM_206933.3(USH2A):c.13335_13347delinsCTTG:p.Glu4445_Ser4449delinsAspLeu	coding	Pathogenic/Likely_pathogenic
1	215674567	GTCCATGTTC	G	C215674570T	USH2A	NM_206933.4(USH2A):c.13335_13343del:p.Glu4445_Met4447del	coding	Pathogenic
1	215674573	GTTC	G	T215674575C	USH2A	NM_206933.4(USH2A):c.13335_13337del:p.Glu4445_Asn4446delinsAsp	coding	Pathogenic/Likely_pathogenic
1	215674702	GCC	G	C215674704T	USH2A	NM_206933.3(USH2A):c.13207_13208del:p.Gly4403fs	coding	Pathogenic
1	215674795	CATTT	C	A215674796G	USH2A	NM_206933.3(USH2A):c.13112_13115del:p.Gln4371fs	coding	Pathogenic/Likely_pathogenic
1	215674849	AGCCTCCAGAGTTGTGATGCTGG	TGACTTCTGA	A215674849T	USH2A	NM_206933.4(USH2A):c.13040_13062delinsTCAGAAGTCA:p.Thr4347fs	coding	Pathogenic
1	215674931	GA	G	A215674936G	USH2A	NM_206933.4(USH2A):c.12979del:p.Ser4327fs	coding	Pathogenic
1	215675116	AC	A	C215675118T	USH2A	NM_206933.3(USH2A):c.12794del:p.Gly4265fs	coding	Pathogenic
1	215675577	C	CA	G215675579A	USH2A	NM_206933.4(USH2A):c.12333dup:p.Gly4112fs	coding	Pathogenic
1	215680168	CT	C	T215680169C	USH2A	NM_206933.4(USH2A):c.12274del:p.Arg4092fs	coding	Pathogenic
1	215680207	TTC	T	C215680211T	USH2A	NM_206933.3(USH2A):c.12232_12233GA[1]:p.Asn4079fs	coding	Pathogenic
1	215680290	T	TAA	T215680291A	USH2A	NM_206933.3(USH2A):c.12152_12153insTT:p.Glu4051fs	coding	Pathogenic
1	215680328	AT	A	T215680329G	USH2A	NM_206933.4(USH2A):c.12114del:p.Tyr4039fs	coding	Pathogenic
1	215680349	CG	C	G215680350T	USH2A	NM_206933.4(USH2A):c.12093del:p.Leu4030_Tyr4031insTer	coding	Pathogenic
1	215728092	AGACCACACGGTAATGGGAGATAATGCCATTGGGAGATTCTGGCTTTGTCCAATTCAACAGAACTGAATGAGCACTCGTGGCTTGAGCCCAAGGAGCTGGAAAATCTT	A	C215728095G	USH2A	NM_206933.4(USH2A):c.11897_12003del:p.Gln3966fs	coding	Pathogenic
1	215728219	TTG	T	G215728223T	USH2A	NM_206933.3(USH2A):c.11873_11874CA[1]:p.Gln3959fs	coding	Pathogenic
1	215728271	A	AC	G215728275C	USH2A	NM_206933.4(USH2A):c.11824dup:p.Val3942fs	coding	Pathogenic
1	215728273	C	CCGATATT	T215728283A	USH2A	NM_206933.4(USH2A):c.11816_11822dup:p.Val3942fs	coding	Pathogenic
1	215728370	ATG	A	T215728371C	USH2A	NM_206933.4(USH2A):c.11724_11725del:p.Gly3908_Ile3909insTer	coding	Pathogenic
1	215741541	GA	G	A215741553T	USH2A	NM_206933.3(USH2A):c.11549-5del	noncoding	Benign
1	215741541	G	GA	T215741554A	USH2A	NM_206933.3(USH2A):c.11549-16dup	noncoding	Benign
1	215743290	TTGAG	T	G215743292A	USH2A	NM_206933.3(USH2A):c.11431_11434del:p.Leu3811fs	coding	Pathogenic/Likely_pathogenic
1	215743313	AG	A	G215743315A	USH2A	NM_206933.3(USH2A):c.11411del:p.Pro3804fs	coding	Pathogenic
1	215743341	A	AAG	A215743361G	USH2A	NM_206933.3(USH2A):c.11390-24CT[10]	noncoding	Benign
1	215743371	C	CAT	G215743388A	USH2A	NM_206933.3(USH2A):c.11390-52AT[9]	noncoding	Benign
1	215758593	AC	A	C215758595T	USH2A	NM_206933.3(USH2A):c.11389+1del	noncoding	Pathogenic/Likely_pathogenic
1	215759667	TGGGCTCCA	T	G215759670T	USH2A	NM_206933.4(USH2A):c.11216_11223del:p.Leu3739fs	coding	Pathogenic
1	215759716	GA	G	A215759720G	USH2A	NM_206933.3(USH2A):c.11174del:p.Phe3725fs	coding	Pathogenic
1	215759816	AT	A	T215759817A	USH2A	NM_206933.4(USH2A):c.11074del:p.Ile3692fs	coding	Pathogenic
1	215766752	G	GTA	A215766755T	USH2A	NM_206933.2(USH2A):c.10974_10975dup(p.Thr3659Ilefs	coding	Pathogenic/Likely_pathogenic
1	215779930	CGTTTGAT	C	G215779931T	USH2A	NM_206933.4(USH2A):c.10845_10851del:p.Ser3616fs	coding	Pathogenic
1	215782082	AG	A	G215782083C	USH2A	NM_206933.4(USH2A):c.10699del:p.Gln3566_Leu3567insTer	coding	Pathogenic
1	215782154	C	CT	G215782155T	USH2A	NM_206933.4(USH2A):c.10627_10628insA:p.Arg3543fs	coding	Pathogenic
1	215786738	AT	A	T215786740G	USH2A	NM_206933.3(USH2A):c.10318del:p.Ile3440fs	coding	Pathogenic
1	215786845	TG	T	G215786848C	USH2A	NM_206933.4(USH2A):c.10211del:p.Pro3404fs	coding	Pathogenic
1	215786865	CTT	C	T215786867G	USH2A	NM_206933.3(USH2A):c.10190_10191del:p.Lys3397fs	coding	Pathogenic
1	215798952	C	CT	A215798954T	USH2A	NM_206933.4(USH2A):c.9912dup:p.Glu3305fs	coding	Pathogenic
1	215799053	AT	A	T215799055C	USH2A	NM_206933.4(USH2A):c.9811del:p.Met3271fs	coding	Pathogenic
1	215813789	TC	T	C215813791T	USH2A	NM_206933.3(USH2A):c.9685del:p.Glu3229fs	coding	Pathogenic
1	215813836	CG	C	G215813839A	USH2A	NM_206933.4(USH2A):c.9638del:p.Pro3213fs	coding	Pathogenic
1	215838015	GGT	G	G215838018T	USH2A	NM_206933.3(USH2A):c.9343_9344AC[1]:p.Pro3116fs	coding	Pathogenic/Likely_pathogenic
1	215838054	AT	A	T215838057G	USH2A	NM_206933.4(USH2A):c.9307del:p.Ile3103fs	coding	Pathogenic/Likely_pathogenic
1	215845988	C	CA	G215845995A	USH2A	NM_206933.3(USH2A):c.8890dup:p.Trp2964fs	coding	Pathogenic
1	215877797	G	GAATA	T215877806A	USH2A	NM_206933.3(USH2A):c.8634_8637TATT[3]:p.Ser2881fs	coding	Pathogenic/Likely_pathogenic
1	215879081	TG	T	G215879086T	USH2A	NM_206933.3(USH2A):c.8240del:p.Pro2747fs	coding	Pathogenic/Likely_pathogenic
1	215888469	A	AC	A215888474C	USH2A	NM_206933.2(USH2A):c.8179dup:p.Val2727Glyfs	coding	Pathogenic/Likely_pathogenic
1	215888698	T	TG	T215888703G	USH2A	NM_206933.3(USH2A):c.7950dup:p.Asn2651fs	coding	Pathogenic/Likely_pathogenic
1	215888817	GA	G	A215888820G	USH2A	NM_206933.4(USH2A):c.7831del:p.Ser2611fs	coding	Pathogenic
1	215889028	GA	G	A215889030T	USH2A	NM_206933.3(USH2A):c.7620del:p.Leu2541fs	coding	Pathogenic/Likely_pathogenic
1	215900080	TC	T	C215900081T	USH2A	NM_206933.4(USH2A):c.7588del:p.Glu2530fs	coding	Pathogenic
1	215900144	GA	G	A215900147C	USH2A	NM_206933.3(USH2A):c.7524del:p.Arg2509fs	coding	Pathogenic
1	215900175	AC	A	C215900176T	USH2A	NM_206933.3(USH2A):c.7493del:p.Ser2498fs	coding	Pathogenic/Likely_pathogenic
1	215900200	GA	G	A215900202G	USH2A	NM_206933.4(USH2A):c.7468del:p.Ser2490fs	coding	Pathogenic
1	215934808	GA	G	A215934812T	USH2A	NM_206933.3(USH2A):c.7121-14del	noncoding	Benign
1	215965360	TAA	T	A215965361G	USH2A	NM_206933.4(USH2A):c.7075_7076del:p.Leu2359fs	coding	Pathogenic
1	215965409	CG	C	G215965412A	USH2A	NM_206933.4(USH2A):c.7027del:p.Arg2343fs	coding	Pathogenic
1	215965413	A	AT	C215965415T	USH2A	NM_206933.4(USH2A):c.7023dup:p.Ser2342fs	coding	Pathogenic
1	215965446	CT	C	T215965448C	USH2A	NM_206933.4(USH2A):c.6990del:p.Gly2331fs	coding	Pathogenic
1	215970650	GC	G	C215970652G	USH2A	NM_206933.4(USH2A):c.6931del:p.Ala2311fs	coding	Pathogenic
1	215970661	T	TTGGACTCTGAAGGAATG	A215970680G	USH2A	NM_206933.4(USH2A):c.6904_6920dup:p.Gln2307fs	coding	Pathogenic
1	215993027	ATAT	A	A215993029C	USH2A	NM_206933.3(USH2A):c.6795_6797del:p.Glu2265_Tyr2266delinsAsp	coding	Pathogenic/Likely_pathogenic
1	215998904	AT	A	T215998907A	USH2A	NM_206933.3(USH2A):c.6639del:p.Lys2213fs	coding	Pathogenic
1	216000493	GA	G	A216000495C	USH2A	NM_206933.4(USH2A):c.6394del:p.Ser2132fs	coding	Pathogenic
1	216046453	ACTGCCTGAATAGAT	A	T216046455A	USH2A	NM_206933.4(USH2A):c.6289_6302del:p.Leu2096_Ile2097insTer	coding	Pathogenic/Likely_pathogenic
1	216048537	CT	C	T216048539G	USH2A	NM_206933.3(USH2A):c.6159del:p.Glu2054fs	coding	Pathogenic/Likely_pathogenic
1	216048568	G	GCT	A216048574T	USH2A	NM_206933.4(USH2A):c.6125_6126AG[3]:p.Ser2043fs	coding	Pathogenic
1	216070272	GA	G	A216070273G	USH2A	NM_206933.3(USH2A):c.5877del:p.Ser1961fs	coding	Pathogenic/Likely_pathogenic
1	216078148	T	TA	C216078152A	USH2A	NM_206933.4(USH2A):c.5512dup:p.Tyr1838fs	coding	Pathogenic
1	216078308	T	TA	G216078312A	USH2A	NM_206933.4(USH2A):c.5352dup:p.Thr1785fs	coding	Pathogenic
1	216083475	TC	T	C216083476T	USH2A	NM_206933.3(USH2A):c.5278del:p.Asp1760fs	coding	Pathogenic/Likely_pathogenic
1	216084706	AG	A	G216084708A	USH2A	NM_206933.3(USH2A):c.5158del:p.Phe1719_Leu1720insTer	coding	Pathogenic
1	216084712	TGA	T	A216084714C	USH2A	NM_206933.4(USH2A):c.5151_5152del:p.Gln1718fs	coding	Pathogenic
1	216084863	C	CT	G216084869T	USH2A	NM_206933.4(USH2A):c.5001dup:p.Gly1668fs	coding	Pathogenic
1	216086798	ACCATTC	GA	A216086798G	USH2A	NM_206933.3(USH2A):c.4902_4908delinsTC:p.Asn1635fs	coding	Pathogenic/Likely_pathogenic
1	216097168	ACAAT	A	T216097172A	USH2A	NM_206933.4(USH2A):c.4669_4672del:p.Ile1557fs	coding	Pathogenic
1	216175275	T	TG	A216175277G	USH2A	NM_007123.5(USH2A):c.4603dup:p.His1535fs	coding	Pathogenic
1	216175368	C	CT	C216175372T	USH2A	NM_206933.4(USH2A):c.4510dup:p.Arg1504fs	coding	Pathogenic
1	216190234	GT	G	T216190237G	USH2A	NM_206933.4(USH2A):c.4384del:p.Thr1462fs	coding	Pathogenic
1	216190279	CAG	C	A216190284T	USH2A	NM_206933.3(USH2A):c.4334_4335CT[2]:p.Cys1447fs	coding	Pathogenic
1	216190379	AAAAG	A	A216190401T	USH2A	NM_007123.5(USH2A):c.4252-36CTTT[5]	noncoding	Benign/Likely_benign
1	216196618	CCA	C	C216196621A	USH2A	NM_206933.4(USH2A):c.4182_4183TG[1]:p.Val1395fs	coding	Pathogenic
1	216196669	T	TGA	T216196677A	USH2A	NM_007123.5(USH2A):c.4129_4130TC[4]:p.Asn1379fs	coding	Pathogenic
1	216196678	AC	A	C216196679G	USH2A	NM_007123.5(USH2A):c.4125del:p.Tyr1376fs	coding	Pathogenic
1	216198349	AG	A	G216198350A	USH2A	NM_206933.4(USH2A):c.4046del:p.Ser1349fs	coding	Pathogenic
1	216199700	T	TA	G216199702A	USH2A	NM_206933.4(USH2A):c.3737dup:p.Ser1247fs	coding	Pathogenic
1	216199848	GA	G	A216199851C	USH2A	NM_206933.3(USH2A):c.3589del:p.Ser1197fs	coding	Pathogenic/Likely_pathogenic
1	216199879	CA	C	A216199880C	USH2A	NM_206933.3(USH2A):c.3558del:p.Cys1186fs	coding	Pathogenic/Likely_pathogenic
1	216199944	AC	A	C216199945A	USH2A	NM_206933.4(USH2A):c.3493del:p.Ser1164_Val1165insTer	coding	Pathogenic
1	216200002	CT	C	T216200003G	USH2A	NM_007123.5(USH2A):c.3435del:p.Val1147fs	coding	Pathogenic
1	216200020	TGACAGCTACACTCCTTGTTGAACCATGCACATTG	T	A216200022T	USH2A	NM_206933.3(USH2A):c.3384_3417del:p.Asn1129fs	coding	Pathogenic
1	216200056	TG	T	G216200058T	USH2A	NM_206933.4(USH2A):c.3381del:p.Thr1128fs	coding	Pathogenic
1	216200064	ATG	A	G216200066A	USH2A	NM_206933.4(USH2A):c.3372_3373del:p.Tyr1124_Ile1125insTer	coding	Pathogenic
1	216207291	CTG	C	G216207293T	USH2A	NM_007123.5(USH2A):c.3296_3297del:p.Thr1099fs	coding	Pathogenic
1	216207363	G	GAC	T216207366A	USH2A	NM_007123.5(USH2A):c.3224_3225dup:p.Pro1076fs	coding	Pathogenic
1	216207400	TTG	T	G216207402C	USH2A	NM_206933.3(USH2A):c.3187_3188del:p.Gln1063fs	coding	Pathogenic
1	216217414	C	CA	T216217416A	USH2A	NM_007123.5(USH2A):c.3129dup:p.Val1044fs	coding	Pathogenic
1	216217457	GC	G	C216217459A	USH2A	NM_007123.5(USH2A):c.3086del:p.Gly1029fs	coding	Pathogenic
1	216217539	CA	C	A216217541G	USH2A	NM_007123.5(USH2A):c.3004del:p.Cys1002fs	coding	Pathogenic
1	216232047	TC	T	C216232048A	USH2A	NM_007123.5(USH2A):c.2898del:p.Thr967fs	coding	Pathogenic
1	216232130	TA	T	A216232135C	USH2A	NM_206933.4(USH2A):c.2815del:p.Tyr939fs	coding	Pathogenic
1	216246673	T	TGTCCCCAAGGA	A216246685G	USH2A	NM_206933.4(USH2A):c.2710_2720dup:p.Leu908fs	coding	Pathogenic
1	216246744	G	GC	T216246746C	USH2A	NM_206933.4(USH2A):c.2649dup:p.Pro884fs	coding	Pathogenic/Likely_pathogenic
1	216246859	CA	C	A216246860G	USH2A	NM_007123.5(USH2A):c.2534del:p.Leu845fs	coding	Pathogenic
1	216247001	TCA	T	C216247004G	USH2A	NM_206933.4(USH2A):c.2391_2392del:p.Cys797_Asp798delinsTer	coding	Pathogenic
1	216247094	TC	T	C216247095A	USH2A	NM_007123.5(USH2A):c.2299del:p.Glu767fs	coding	Pathogenic
1	216247113	GAT	G	A216247114T	USH2A	NM_007123.5(USH2A):c.2279_2280del:p.Asn760fs	coding	Pathogenic
1	216251067	A	ACGTGTCTC	T216251076C	USH2A	NM_206933.4(USH2A):c.1995_2002dup:p.Val668fs	coding	Pathogenic
1	216251077	T	TA	C216251079A	USH2A	NM_206933.4(USH2A):c.1992dup:p.Lys665Ter	coding	Pathogenic
1	216292190	C	CA	C216292192A	USH2A	NM_206933.4(USH2A):c.1824dup:p.Glu609Ter	coding	Pathogenic
1	216292211	CT	C	T216292212C	USH2A	NM_007123.5(USH2A):c.1803del:p.Gly602fs	coding	Pathogenic
1	216292335	AG	A	G216292337C	USH2A	NM_206933.3(USH2A):c.1679del:p.Pro560fs	coding	Pathogenic
1	216292377	C	CA	T216292384A	USH2A	NM_007123.5(USH2A):c.1645-13dup	noncoding	Benign
1	216321968	CA	C	A216321969C	USH2A	NM_206933.3(USH2A):c.1558del:p.Cys520fs	coding	Pathogenic/Likely_pathogenic
1	216323502	CA	AT	C216323502A	USH2A	NM_206933.4(USH2A):c.1521_1522delinsAT:p.Tyr507_Ala508delinsTer	coding	Pathogenic
1	216324168	T	TTGGAAAGCTGAAGACA	G216324185T	USH2A	NM_007123.5(USH2A):c.1312_1327dup:p.Asn443fs	coding	Pathogenic
1	216324281	AT	A	T216324285C	USH2A	NM_206933.3(USH2A):c.1214del:p.Asn405fs	coding	Pathogenic
1	216325335	AAT	A	T216325337G	USH2A	NM_206933.3(USH2A):c.1111_1112del:p.Ile371fs	coding	Pathogenic/Likely_pathogenic
1	216325447	C	CGT	A216325451T	USH2A	NM_007123.5(USH2A):c.999_1000dup:p.Arg334fs	coding	Pathogenic
1	216325453	ACT	A	C216325456A	USH2A	NM_206933.4(USH2A):c.991_992AG[1]:p.Arg331fs	coding	Pathogenic/Likely_pathogenic
1	216325524	G	GTGGC	C216325531G	USH2A	NM_007123.5(USH2A):c.920_923dup:p.His308fs	coding	Pathogenic
1	216325594	ATC	A	C216325600G	USH2A	NM_206933.2(USH2A):c.852_853delGA:p.Glu284Aspfs	coding	Pathogenic
1	216327635	TC	T	C216327637G	USH2A	NM_206933.4(USH2A):c.803del:p.Gly268fs	coding	Pathogenic
1	216327668	CAT	C	A216327669G	USH2A	NM_007123.5(USH2A):c.785-16_785-15del	noncoding	Benign
1	216364960	ACT	A	C216364963G	USH2A	NM_206933.4(USH2A):c.773_774AG[1]:p.Ser259fs	coding	Pathogenic
1	216365069	A	AT	G216365075T	USH2A	NM_007123.5(USH2A):c.667dup:p.Ile223fs	coding	Pathogenic
1	216418552	T	TC	A216418557C	USH2A	NM_206933.4(USH2A):c.612dup:p.Arg205fs	coding	Pathogenic
1	216418618	CTT	C	T216418620C	USH2A	NM_007123.5(USH2A):c.545_546del:p.Lys182fs	coding	Pathogenic
1	216418632	G	GT	A216418634T	USH2A	NM_206933.4(USH2A):c.532dup:p.Thr178fs	coding	Pathogenic
1	216421927	G	GA	G216421932A	USH2A	NM_206933.4(USH2A):c.409dup:p.Ser137fs	coding	Pathogenic
1	216421934	AG	A	G216421935C	USH2A	NM_007123.5(USH2A):c.402del:p.Cys135fs	coding	Pathogenic
1	216421949	CA	C	A216421954T	USH2A	NM_206933.3(USH2A):c.387del:p.Phe129fs	coding	Pathogenic/Likely_pathogenic
1	216421959	AC	A	C216421960T	USH2A	NM_206933.4(USH2A):c.377del:p.Ser126fs	coding	Pathogenic
1	216422096	G	GGATC	G216422098A	USH2A	NM_206933.3(USH2A):c.240_241insGATC:p.Gln81fs	coding	Pathogenic
1	216422097	G	GGTAC	A216422102G	USH2A	NM_206933.3(USH2A):c.236_239dup:p.Gln81fs	coding	Pathogenic
1	216422237	G	GA	T216422238A	USH2A	NM_206933.3(USH2A):c.99_100insT:p.Arg34fs	coding	Pathogenic
1	216422281	AT	A	T216422284C	USH2A	NM_206933.4(USH2A):c.55del:p.Met19fs	coding	Pathogenic
1	218331057	GC	G	C218331058A	RRP15	NM_016052.4(RRP15):c.816del:p.Ser272fs	coding	Benign
1	218346586	A	AAAAC	C218346593A	TGFB2	NM_003238.5(TGFB2):c.-113_-110dup	noncoding	Benign
1	218346928	ACTTGCTCCAGGAGAAGG	A	T218346930G	TGFB2	NM_003238.5(TGFB2):c.229_245del:p.Leu77fs	coding	Pathogenic
1	218346939	GA	AAG	G218346939A	TGFB2	NM_003238.5(TGFB2):c.238_239delinsAAG:p.Glu80fs	coding	Pathogenic
1	218346951	C	CG	A218346954G	TGFB2	NM_003238.5(TGFB2):c.252dup:p.Arg85fs	coding	Pathogenic
1	218346980	GA	G	A218346981G	TGFB2	NM_003238.5(TGFB2):c.280del:p.Ser94fs	coding	Pathogenic
1	218405175	TC	T	C218405178G	TGFB2	NM_003238.5(TGFB2):c.356del:p.Pro119fs	coding	Pathogenic
1	218405268	TCA	T	C218405269G	TGFB2	NM_003238.6(TGFB2):c.447_448del:p.Phe149fs	coding	Pathogenic
1	218405344	T	TTTG	G218405346T	TGFB2	NM_003238.6(TGFB2):c.510+13_510+14insTGT	noncoding	Benign
1	218434146	CAA	C	A218434147G	TGFB2	NM_003238.5(TGFB2):c.576_577del:p.Arg193fs	coding	Pathogenic/Likely_pathogenic
1	218436013	TATAAAGT	A	T218436013A	TGFB2	NM_003238.6(TGFB2):c.798_805delinsA:p.Ile267fs	coding	Pathogenic
1	218436028	G	GA	C218436037A	TGFB2	NM_001135599.3(TGFB2):c.905dup:p.Asn302fs	coding	Pathogenic/Likely_pathogenic
1	218436106	CCGGCGGAAGA	C	C218436107A	TGFB2	NM_003238.5(TGFB2):c.892_901del:p.Arg298fs	coding	Pathogenic
1	218436132	C	CGGCCTA	T218436139G	TGFB2	NM_003238.6(TGFB2):c.918_923dup:p.Tyr308Ter	coding	Pathogenic
1	218437320	CT	C	T218437337A	TGFB2	NM_003238.6(TGFB2):c.933-6del	noncoding	Benign/Likely_benign
1	218437320	CTTT	C	T218437335A	TGFB2	NM_003238.5(TGFB2):c.933-8_933-6del	noncoding	Benign
1	218437399	T	TA	G218437401A	TGFB2	NM_003238.6(TGFB2):c.990dup:p.Gly331fs	coding	Pathogenic
1	218437430	GTACAA	G	A218437432G	TGFB2	NM_003238.5(TGFB2):c.1022_1026del:p.Tyr341fs	coding	Pathogenic
1	218442150	GT	G	T218442161C	TGFB2	NM_003238.5(TGFB2):c.*799del	noncoding	Benign
1	218443709	GTT	G	T218443722A	TGFB2	NM_003238.5(TGFB2):c.*2360_*2361del	noncoding	Benign
1	219914320	TG	T	G219914322A	SLC30A10	NM_018713.2(SLC30A10):c.*1128del	noncoding	Benign
1	219915671	CT	C	T219915672G	SLC30A10	NM_018713.2(SLC30A10):c.1235del:p.Gln412fs	coding	Pathogenic
1	219918445	GACC	G	C219918448A	SLC30A10	NR_046437.1(SLC30A10):n.1014_1016del	coding	Pathogenic
1	219927855	TC	T	C219927860G	SLC30A10	NR_046437.1(SLC30A10):n.796del	coding	Pathogenic
1	219927887	GGGGCTGTCGGGTCCGCCGCGCGCCGCGGGTCCTCCGCGCCCTGAGGCCCCCCGAAAGC	G	G219927889C	SLC30A10	NR_046437.1(SLC30A10):n.707_764del	coding	Pathogenic
1	219927933	GC	G	C219927939G	SLC30A10	NM_018713.2(SLC30A10):c.507del:p.Pro170fs	coding	Pathogenic
1	219927948	CG	C	G219927952A	SLC30A10	NM_018713.2(SLC30A10):c.492del:p.Gly165fs	coding	Pathogenic
1	219928038	GGAAGATGAGCAGCCCCACCACGTTGACCAACAGCCCCAGGACGCCGACGATGAGCACCAGCTCGGGGTCATCGATGCGCTCGGGCCGGGCCAGGCGCAGCACGGCCTCCAC	G	A219928046G	SLC30A10	NR_046437.1(SLC30A10):n.503_613del	coding	Pathogenic
1	219928118	TCGGGCCGGG	T	G219928120C	SLC30A10	NR_046437.1(SLC30A10):n.525_533del	coding	Pathogenic
1	219980128	GT	G	T219980130G	EPRS1	NM_004446.3(EPRS1):c.3667del:p.Thr1223fs	coding	Pathogenic
1	220096096	TA	T	A220096100C	IARS2	NM_018060.4(IARS2):c.268-4del	noncoding	Benign
1	220110770	GT	G	T220110781A	IARS2	NM_018060.4(IARS2):c.1328-5del	noncoding	Benign
1	220148325	TAAG	T	A220148329T	RAB3GAP2	NM_012414.4(RAB3GAP2):c.*2920_*2922CTT[1]	noncoding	Benign
1	220167637	G	GT	A220167641T	RAB3GAP2	NM_012414.4(RAB3GAP2):c.2844dup:p.Gln949fs	coding	Pathogenic
1	220182722	A	AG	C220182724G	RAB3GAP2	NM_012414.4(RAB3GAP2):c.2207dup:p.Leu737fs	coding	Pathogenic
1	220196403	TAA	T	A220196414G	RAB3GAP2	NM_012414.4(RAB3GAP2):c.812-7_812-6del	noncoding	Benign
1	220196403	TA	T	A220196415G	RAB3GAP2	NM_012414.4(RAB3GAP2):c.812-6del	noncoding	Benign
1	220210803	CAGTGTAGAA	C	A220210804G	RAB3GAP2	NM_012414.4(RAB3GAP2):c.499_507del:p.Phe167_Thr169del	coding	Pathogenic
1	220232810	GTTCA	G	C220232813T	RAB3GAP2	NM_012414.4(RAB3GAP2):c.165_168del:p.Glu56fs	coding	Pathogenic
1	222522729	C	CA	G222522731A	HHIPL2	NM_024746.4(HHIPL2):c.2046dup:p.Gly683fs	coding	Benign
1	222544020	T	TC	T222544024C	HHIPL2	NM_024746.4(HHIPL2):c.490dup:p.Asp164fs	coding	Benign
1	222943130	GAG	AAT	G222943130A	DISP1	NM_032890.5(DISP1):c.307_309delinsAAT:p.Glu103Asn	coding	Benign
1	223712873	C	CCACGGTAGGAAGCG	G223712889A	CAPN2	NM_001748.5(CAPN2):c.235_237+11dup	coding	Benign
1	224189834	CTT	C	T224189835C	DEGS1	NM_003676.4(DEGS1):c.341_342del:p.Leu114fs	coding	Pathogenic
1	224190096	AT	A	T224190098A	DEGS1	NM_003676.4(DEGS1):c.604del:p.Tyr202fs	coding	Pathogenic
1	224398195	ACT	A	C224398198G	WDR26	NM_001115113.3(WDR26):c.1624_1625AG[1]:p.Arg542fs	coding	Pathogenic/Likely_pathogenic
1	224398524	TACATTTAACA	T	C224398526A	WDR26	NM_025160.6(WDR26):c.1625_1634del:p.Ala541_Leu542insTer	coding	Pathogenic
1	224398548	A	AT	G224398555T	WDR26	NM_001379403.1(WDR26):c.1910dup:p.Asn637fs	coding	Pathogenic
1	224398996	TA	T	A224398997C	WDR26	NM_025160.6(WDR26):c.1457del:p.Val486fs	coding	Pathogenic
1	224404566	GTA	G	A224404568C	WDR26	NM_025160.6(WDR26):c.1161_1162del:p.His389fs	coding	Pathogenic
1	224411561	GC	AA	G224411561A	WDR26	NM_025160.6(WDR26):c.1023_1024delinsTT:p.Arg341_Gln342delinsSerTer	coding	Pathogenic
1	224418319	AT	A	T224418321G	WDR26	NM_025160.6(WDR26):c.959del:p.Asn320fs	coding	Pathogenic
1	224418373	CTG	C	G224418375A	WDR26	NM_025160.6(WDR26):c.904_905del:p.Gln302fs	coding	Pathogenic
1	224431762	TGA	T	A224431764G	WDR26	NM_001379403.1(WDR26):c.740_741del:p.Leu247fs	coding	Pathogenic
1	224433740	CT	C	T224433741G	WDR26	NM_001379403.1(WDR26):c.665del:p.Gln222fs	coding	Pathogenic
1	224433778	GT	G	T224433780C	WDR26	NM_025160.6(WDR26):c.327del:p.Glu109fs	coding	Pathogenic
1	224433896	A	AT	G224433899T	WDR26	NM_001379403.1(WDR26):c.509dup:p.Asn170fs	coding	Pathogenic
1	224433951	TC	T	C224433956G	WDR26	NM_025160.6(WDR26):c.154del:p.Asp52fs	coding	Pathogenic
1	224434032	C	CT	C224434033T	WDR26	NM_025160.6(WDR26):c.73_74insA:p.Gly25fs	coding	Pathogenic
1	224434049	TC	T	C224434051T	WDR26	NM_025160.6(WDR26):c.56del:p.Gly19fs	coding	Pathogenic
1	225404486	TAGAAGA	CTTCTAG	T225404486C	LBR	NM_002296.4(LBR):c.1599_1605delinsCTAGAAG:p.Leu534_Leu535delinsTer	coding	Pathogenic
1	225404530	TATAAAA	T	A225404537G	LBR	NM_002296.4(LBR):c.1565-10_1565-5del	noncoding	Pathogenic
1	225406744	TA	T	A225406747T	LBR	NM_002296.4(LBR):c.1402del:p.Tyr468fs	coding	Pathogenic
1	225412649	TA	T	A225412665G	LBR	NM_002296.4(LBR):c.893-5del	noncoding	Benign
1	225418168	ATG	TTTCTCATCA	A225418168T	LBR	NM_002296.4(LBR):c.651_653delinsTGATGAGAAA:p.Ile218fs	coding	Pathogenic
1	225424040	TACCA	T	A225424041C	LBR	NM_002296.4(LBR):c.32_35del:p.Val11fs	coding	Pathogenic
1	225498336	CA	C	A225498337G	ENAH	NM_001008493.3(ENAH):c.1738+10del	noncoding	Benign
1	225519331	ATCCAGGCGTTCCTGCCGC	A	C225519385T	ENAH	NM_001008493.3(ENAH):c.615_632GCGGCAGGAACGCCTGGA[2]:p.199_204ERQERL[3]	coding	Benign
1	225519569	GA	G	A225519585G	ENAH	NM_001008493.3(ENAH):c.435-5del	noncoding	Benign
1	225921246	C	CAG	C225921253A	PYCR2	NM_013328.4(PYCR2):c.753_754CT[4]:p.Leu254fs	coding	Pathogenic/Likely_pathogenic
1	225922388	AAG	A	A225922391G	PYCR2	NM_013328.4(PYCR2):c.139-7_139-6del	noncoding	Benign
1	226965069	G	GT	C226965071T	COQ8A	NM_020247.5(COQ8A):c.248dup:p.His85fs	coding	Pathogenic
1	226965322	AATCCCCTGTTGGGGGCCTCAC	TTG	A226965322T	COQ8A	NM_020247.5(COQ8A):c.500_521delinsTTG:p.Gln167fs	coding	Pathogenic
1	226965714	TTGGCCGGC	T	G226965720A	COQ8A	NM_020247.5(COQ8A):c.638_645del:p.Arg213fs	coding	Pathogenic
1	226982089	C	CGCACGCTCTGCAAGGTGCGTGGTGCG	T226982120G	COQ8A	NM_020247.5(COQ8A):c.798_823dup:p.Leu275fs	coding	Pathogenic
1	226983549	C	CAGT	C226983554G	COQ8A	NM_020247.5(COQ8A):c.1081-1_1082dup	noncoding	Pathogenic
1	226984168	CCA	C	C226984171G	COQ8A	NM_020247.5(COQ8A):c.1332_1333CA[1]:p.Thr445fs	coding	Pathogenic
1	226984194	CT	C	T226984195G	COQ8A	NM_020247.5(COQ8A):c.1358del:p.Leu453fs	coding	Pathogenic
1	226984232	CG	C	G226984233A	COQ8A	NM_020247.5(COQ8A):c.1396del:p.Glu466fs	coding	Pathogenic
1	226986534	C	CA	G226986536A	COQ8A	NM_020247.5(COQ8A):c.1742dup:p.Ser582fs	coding	Pathogenic
1	226986538	GCAC	G	A226986543G	COQ8A	NM_020247.5(COQ8A):c.1747_1749ACC[1]:p.Thr584del	coding	Pathogenic
1	226986604	A	AG	A226986607G	COQ8A	NM_020247.5(COQ8A):c.1813dup:p.Glu605fs	coding	Pathogenic
1	226987122	A	AT	A226987127T	COQ8A	NM_020247.5(COQ8A):c.*389dup	noncoding	Benign
1	226987544	C	CT	G226987548T	COQ8A	NM_020247.4(COQ8A):c.*807_*808insT	noncoding	Benign
1	228157781	TC	AA	T228157781A	GJC2	NM_020435.4(GJC2):c.23_24delinsAA:p.Phe8Ter	coding	Pathogenic
1	228157864	AT	A	T228157865C	GJC2	NM_020435.4(GJC2):c.107del:p.Ile36fs	coding	Pathogenic
1	228158453	A	AG	C228158454G	GJC2	NM_020435.4(GJC2):c.695_696insG:p.Tyr232Ter	coding	Pathogenic
1	228158658	CCGCCGCGGCCCCCCGGCCTCCGCCCCCGCCCCCG	C	C228158672G	GJC2	NM_020435.4(GJC2):c.914_947del:p.Pro305fs	coding	Pathogenic
1	228158727	G	GGC	C228158730G	GJC2	NM_020435.4(GJC2):c.970_971dup:p.Ala325fs	coding	Pathogenic/Likely_pathogenic
1	228158744	GC	G	C228158747G	GJC2	NM_020435.4(GJC2):c.989del:p.Pro330fs	coding	Pathogenic
1	228158882	TCGGCCTCCCTG	T	T228158892G	GJC2	NM_020435.4(GJC2):c.1134_1144del:p.Ala379fs	coding	Pathogenic/Likely_pathogenic
1	228174733	G	GT	G228174735T	IBA57	NM_001010867.4(IBA57):c.384dup:p.Asp129Ter	coding	Pathogenic
1	228174937	GGC	G	C228174939G	IBA57	NM_001010867.4(IBA57):c.589_590del:p.Arg197fs	coding	Pathogenic
1	228319259	GC	G	C228319266A	OBSCN	NM_001271223.2(OBSCN):c.17373+12del	noncoding	Benign
1	228351308	GGGTGGATTCCA	G	A228351314T	OBSCN	NM_001271223.2(OBSCN):c.21291-7_21294del	noncoding	Pathogenic
1	229431913	C	CG	C229431916G	ACTA1	NM_001100.4(ACTA1):c.809-13dup	noncoding	Benign/Likely_benign
1	229431916	C	GG	C229431916G	ACTA1	NM_001100.4(ACTA1):c.809-14delinsCC	noncoding	Benign
1	229431916	CGGGGAGCGTGAGCAGAAGCTC	GGGGGGAGCGTGAGCAGAAGCT	C229431916G	ACTA1	NM_001100.4(ACTA1):c.809-35_809-14delinsAGCTTCTGCTCACGCTCCCCCC	noncoding	Benign
1	229431936	TC	T	C229431937G	ACTA1	NM_001100.3(ACTA1):c.809-35del	noncoding	Benign
1	229432089	AG	A	G229432092A	ACTA1	NM_001100.4(ACTA1):c.712del:p.Leu238fs	coding	Pathogenic
1	229432344	TC	T	C229432346A	ACTA1	NM_001100.3(ACTA1):c.541del:p.Asp181fs	coding	Pathogenic
1	229432732	TAGA	T	A229432735G	ACTA1	NM_001100.3(ACTA1):c.275_277del:p.Phe92del	coding	Pathogenic
1	229432792	A	AT	A229432794T	ACTA1	NM_001100.4(ACTA1):c.217dup:p.Ile73fs	coding	Pathogenic/Likely_pathogenic
1	229433031	G	GA	G229433032A	ACTA1	NM_001100.3(ACTA1):c.84_85insT:p.Pro29fs	coding	Pathogenic
1	229527317	GAGGAA	G	G229527330A	ABCB10	NM_012089.3(ABCB10):c.1646-24TTCCT[2]	noncoding	Benign
1	230203211	T	TA	C230203213A	GALNT2	NM_004481.5(GALNT2):c.296dup:p.Tyr99Ter	coding	Pathogenic
1	230664532	G	GA	T230664539A	COG2	NM_007357.3(COG2):c.436dup:p.Ile146fs	coding	Pathogenic
1	230669461	T	TA	C230669463A	COG2	NM_007357.3(COG2):c.701dup:p.Tyr234Ter	coding	Pathogenic
1	230703308	CA	C	A230703316T	AGT	NM_000029.4(AGT):c.1290del:p.Phe430fs	coding	Pathogenic
1	230995820	C	CA	G230995830A	ARV1	NM_022786.3(ARV1):c.518dup:p.Pro174fs	coding	Pathogenic
1	231266020	TG	T	G231266021A	GNPAT	NM_014236.4(GNPAT):c.780del:p.Asn261fs	coding	Pathogenic
1	231266089	G	GTT	A231266092T	GNPAT	NM_014236.4(GNPAT):c.849_850dup:p.Tyr284fs	coding	Pathogenic
1	231266259	CT	C	T231266260G	GNPAT	NM_014236.4(GNPAT):c.925-17del	noncoding	Benign
1	231270906	CAT	C	A231270907G	GNPAT	NM_014236.4(GNPAT):c.1429_1430del:p.Met477fs	coding	Pathogenic
1	231272363	TC	T	C231272364A	GNPAT	NM_014236.4(GNPAT):c.1575del:p.Phe525fs	coding	Pathogenic
1	231335929	CCT	C	C231335930G	EXOC8	NM_175876.5(EXOC8):c.1815_1816del:p.Gly606_Asp607insTer	coding	Pathogenic
1	231351569	AAGGT	A	G231351571C	SPRTN	NM_032018.7(SPRTN):c.718_718+3del	coding	Pathogenic
1	231352611	TA	T	A231352614C	SPRTN	NM_032018.7(SPRTN):c.723del:p.Lys241fs	coding	Pathogenic
1	231365762	CA	C	A231365771G	EGLN1	NM_022051.2(EGLN1):c.*648del	noncoding	Benign
1	231366484	TA	T	A231366498T	EGLN1	NM_022051.2(EGLN1):c.1217-10del	noncoding	Benign
1	231425029	G	GT	C231425035T	EGLN1	NM_022051.2(EGLN1):c.-3142dup	noncoding	Benign
1	231487316	CATTT	C	A231487317T	-	NC_000001.11:g.231487317_231487320del	noncoding	Pathogenic
1	234383706	C	CT	C234383716T	COA6	NM_001206641.3(COA6):c.373-8dup	noncoding	Benign
1	234609199	A	AGCT	A234609217T	IRF2BP2	NM_001077397.1(IRF2BP2):c.281_283AGC[6]:p.Gln98dup	coding	Benign
1	234609200	G	GGCT	C234609201G	IRF2BP2	NM_182972.2(IRF2BP2):c.294_295insAGC:p.Leu99_Gly100insSer	coding	Benign
1	235380114	CAG	C	A235380115T	TBCE	NM_003193.5(TBCE):c.66_67del:p.Val23fs	coding	Pathogenic
1	235380161	TTGTGTGTGTGTGTGTGTG	T	G235380197A	TBCE	NM_003193.5(TBCE):c.100+13TG[17]	noncoding	Benign/Likely_benign
1	235401552	TGGGAGCCACGAA	T	G235401557C	TBCE	NM_003193.4(TBCE):c.155_166delGCCACGAAGGGA:p.Ser52_Gly55del	coding	Pathogenic/Likely_pathogenic
1	235436567	TC	T	C235436569T	TBCE	NM_003193.5(TBCE):c.924del:p.Ser308_Leu309insTer	coding	Pathogenic
1	235454189	CAGC	AGG	C235454189A	B3GALNT2	NM_152490.5(B3GALNT2):c.1275_1278delinsCCT:p.Trp425fs	coding	Pathogenic
1	235454243	AG	A	G235454246T	B3GALNT2	NM_152490.5(B3GALNT2):c.1223del:p.Pro408fs	coding	Pathogenic
1	235465651	T	TAA	C235465656A	B3GALNT2	NM_152490.5(B3GALNT2):c.824_825dup:p.Ile276fs	coding	Pathogenic/Likely_pathogenic
1	235465706	C	CT	C235465708T	B3GALNT2	NM_152490.5(B3GALNT2):c.770dup:p.Ala259fs	coding	Pathogenic
1	235470912	CA	C	A235470914G	B3GALNT2	NM_152490.5(B3GALNT2):c.699del:p.Val234fs	coding	Pathogenic
1	235489219	CCA	C	C235489222G	B3GALNT2	NM_152490.5(B3GALNT2):c.306_307TG[1]:p.Val103fs	coding	Pathogenic
1	235504179	G	GAGCGCAGCCGCAGCCAGAGGTGC	G235504208A	B3GALNT2	NM_152490.5(B3GALNT2):c.51_73dup:p.Ser25fs	coding	Pathogenic
1	235663082	TA	T	A235663095T	LYST	NM_001301365.1(LYST):c.11268-5del	noncoding	Benign/Likely_benign
1	235697251	CT	C	T235697255A	LYST	NM_001301365.1(LYST):c.10395del:p.Gly3466fs	coding	Pathogenic
1	235712088	GA	G	A235712093C	LYST	NM_001301365.1(LYST):c.9893del:p.Phe3298fs	coding	Pathogenic
1	235712149	GTTGTAT	G	T235712155G	LYST	NM_000081.4(LYST):c.9827_9832del:p.Asn3276_Thr3277del	coding	Pathogenic
1	235716748	AT	A	T235716749A	LYST	NM_001301365.1(LYST):c.9590del:p.Tyr3197fs	coding	Pathogenic
1	235724114	T	TACTGAAAGAA	G235724115A	LYST	NM_001301365.1(LYST):c.9228_9229insTTCTTTCAGT:p.Lys3077delinsPhePheGlnTer	coding	Pathogenic
1	235752076	TA	T	A235752077T	LYST	NM_001301365.1(LYST):c.7555del:p.Tyr2519fs	coding	Pathogenic
1	235755388	CAAAAG	C	G235755428A	LYST	NM_000081.4(LYST):c.7229+50CTTTT[7]	noncoding	Benign
1	235755640	TCTAATAG	T	T235755645A	LYST	NM_000081.3(LYST):c.7060_7066del:p.Leu2354Metfs	coding	Pathogenic
1	235762863	AT	A	T235762871G	LYST	NM_000081.4(LYST):c.6122-13del	noncoding	Benign/Likely_benign
1	235775004	CTT	C	T235775006G	LYST	NM_001301365.1(LYST):c.5541_5542del:p.Arg1848fs	coding	Pathogenic
1	235775088	TA	T	A235775099T	LYST	NM_000081.4(LYST):c.5461-3del	noncoding	Benign
1	235777205	CT	C	T235777208G	LYST	NM_001301365.1(LYST):c.5317del:p.Arg1773fs	coding	Pathogenic
1	235791967	TA	T	A235791970C	LYST	NM_001301365.1(LYST):c.4274del:p.Leu1425fs	coding	Pathogenic
1	235800381	A	AG	T235800383G	LYST	NM_001301365.1(LYST):c.3944dup:p.Val1316fs	coding	Pathogenic
1	235803018	GA	G	A235803023T	LYST	NM_000081.4(LYST):c.3601del:p.Ser1201fs	coding	Pathogenic
1	235804624	A	AT	G235804626T	LYST	NM_001301365.1(LYST):c.3434dup:p.His1145fs	coding	Pathogenic
1	235806061	GTT	G	T235806063A	LYST	NM_001301365.1(LYST):c.3073_3074del:p.Asn1025fs	coding	Pathogenic
1	235806512	TA	T	A235806516T	LYST	NM_001301365.1(LYST):c.2623del:p.Tyr875fs	coding	Pathogenic
1	235806681	CT	C	T235806685A	LYST	NM_001301365.1(LYST):c.2454del:p.Ala819fs	coding	Pathogenic
1	235806722	TC	T	C235806723G	LYST	NM_001301365.1(LYST):c.2413del:p.Glu805fs	coding	Pathogenic
1	235808915	C	CT	A235808922T	LYST	NM_001301365.1(LYST):c.1902dup:p.Ala635fs	coding	Pathogenic
1	235809350	GC	G	C235809351T	LYST	NM_001301365.1(LYST):c.1467del:p.Glu489fs	coding	Pathogenic
1	235830299	G	GC	A235830302C	LYST	NM_001301365.1(LYST):c.118dup:p.Ala40fs	coding	Pathogenic
1	236482402	CAACGGT	C	A236482403G	EDARADD	NM_080738.4(EDARADD):c.372_377del:p.Thr125_Val126del	coding	Pathogenic
1	236550992	T	TA	T236551011A	HEATR1	NM_018072.6(HEATR1):c.6347-20dup	coding	Benign
1	236859871	T	TATCA	G236859872A	MTR	NM_000254.2(MTR):c.1992_1993insATCA:p.Glu665fs	coding	Pathogenic
1	236861191	CCT	C	T236861195A	MTR	NM_001291939.1(MTR):c.2044-1041_2044-1040del	coding	Pathogenic
1	236874727	TA	T	A236874728T	MTR	NM_000254.2(MTR):c.2476del:p.Asp825_Ile826insTer	coding	Pathogenic
1	236880798	GTAA	G	A236880800C	MTR	NM_000254.2(MTR):c.2640_2642del:p.Ile881del	coding	Pathogenic
1	236880825	AGT	A	T236880829G	MTR	NM_000254.2(MTR):c.2667_2668TG[1]:p.Val890fs	coding	Pathogenic
1	236894530	C	CA	G236894533A	MTR	NM_000254.2(MTR):c.3380dup:p.Ala1128fs	coding	Pathogenic
1	236897006	GC	G	C236897007A	MTR	NM_000254.2(MTR):c.3600del:p.Ile1201fs	coding	Pathogenic
1	236900409	T	TA	G236900419A	MTR	NM_000254.2(MTR):c.*2774dup	noncoding	Benign
1	236900417	AAG	A	G236900419A	MTR	NM_000254.2(MTR):c.*2775_*2776del	noncoding	Benign
1	236901466	TC	T	C236901468A	MTR	NM_000254.2(MTR):c.*3824del	noncoding	Benign
1	236903480	C	CT	C236903482T	MTR	NM_000254.2(MTR):c.*5837dup	noncoding	Benign
1	237042458	G	GGCC	A237042475C	RYR2	NM_001035.3(RYR2):c.-62_-60CCG[6]	noncoding	Benign
1	237330678	GCACCCGGCCACTATCTCTGGTTTTTTAAAATGTATTAAACATGAGGAGTAATGACAGTGTTTCTTGATGACTGGGGAACTTGCAGTAGAAAGTTGACAAATACTGTTTCTATGAAAGAAACTGGAGCCTCCTAAGGTAAGCTGGGTCTGGATGCTTGATGAAGATGATGCTGCTGACTGCTCTTCCTCTTTCTGTGCAGAATGTGCCCCCAGACCTCTCCATCTGCACCTTTGTGCTGGAGCAGTCCCTCTCTGTCCGGGCGCTGCAGGAGATGCTGGCTAACACCGTGGAGAAATCAGAAGGGGCAAGTACCCAATTTATGTAGACTTGTAGTATTTTAATGAGCTCAGCTACTATAGGAACAATTTCTTTCACAGGTGTCAGAGATTTTCTTTTTGCTAAAATAAGTCCATGCCTTTCAGTTGGAATGTCCTTAGGTTTGACTTTCTGCTTTATCTAGCATATTTGTGGTGTCTTGAAAACTAAAAAAATATATCCAAGCTTGATGTGATCTGTGTCACTAGGCCTCGTGCTTATGTCTGTTGTTTAAAACCGACCTTTCTTTGAGCGTTTCTGTGTTTCATTACATTTTCAGAGCTGTTATTGTTATTATTTTAACTCATAGCTTTATGCATGGCTATTTGTCATTAACCTTTATTTCATTTTCAAATGTCTGTCACTATGTGACTATGTTCTGAGCTTTTTCATGGAAAGTAAAATTTCATGGCACTGTTATATATTTTAAGTAACCAAATTTTGGTGATATGGCTTTAGGCTATTGTAATTTTGCAAACAGCTAATCCTTCTCCTCTGAAAATTGAAATTTTTCTTTTCTTTTTTTTGAGATGGAGTCTGGCTCTGTCACCCAGGCTGGAGTGCAGTGGCGCGATCTCAGCTCACTGCAAGCTCTGCCTCCCGGGTTCATGCCATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGCTCCTGCCACCACCACACCTGGCTATTTTTTTTTTTTTTTTCTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAGGATGGTCTTGACCTCCTGACCTCGTGATCTGCCCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCA	G	A237330680C	RYR2	NM_001035.3(RYR2):c.169-198_273+820del	noncoding	Pathogenic
1	237374800	G	GC	A237374802C	RYR2	NM_001035.3(RYR2):c.463+6dup	noncoding	Benign/Likely_benign
1	237416759	C	CAG	C237416761G	RYR2	NM_001035.3(RYR2):c.774-289_774-288insGA	noncoding	Benign
1	237456575	A	AT	A237456590T	RYR2	NM_001035.3(RYR2):c.1477-11dup	noncoding	Benign/Likely_benign
1	237456575	A	ATTT	A237456590T	RYR2	NM_001035.3(RYR2):c.1477-13_1477-11dup	noncoding	Benign
1	237456575	AT	A	T237456589A	RYR2	NM_001035.3(RYR2):c.1477-11del	noncoding	Benign/Likely_benign
1	237456575	ATT	A	T237456588A	RYR2	NM_001035.3(RYR2):c.1477-12_1477-11del	noncoding	Benign
1	237456575	ATTT	A	T237456587A	RYR2	NM_001035.3(RYR2):c.1477-13_1477-11del	noncoding	Benign
1	237468985	A	AT	G237468986T	RYR2	NM_001035.3(RYR2):c.1613-107_1613-106insT	noncoding	Benign
1	237503509	C	CCTTG	A237503511T	RYR2	NM_001035.3(RYR2):c.2613+5_2613+6insTTGC	noncoding	Benign
1	237589774	AT	A	T237589784C	RYR2	NM_001035.3(RYR2):c.3599-9del	noncoding	Benign/Likely_benign
1	237602011	TA	T	A237602014T	RYR2	NM_001035.3(RYR2):c.4597-11del	noncoding	Benign/Likely_benign
1	237643306	G	GT	C237643316T	RYR2	NM_001035.3(RYR2):c.7222-12dup	noncoding	Benign/Likely_benign
1	237655790	AT	A	T237655801G	RYR2	NM_001035.3(RYR2):c.7966-20del	noncoding	Benign
1	237666504	T	TG	A237666506G	RYR2	NM_001035.2(RYR2):c.8437-7dupG	noncoding	Benign/Likely_benign
1	237730373	GC	TT	G237730373T	RYR2	NM_001035.3(RYR2):c.10935+17_10935+18delinsTT	noncoding	Benign
1	237742270	C	CTTT	A237742286T	RYR2	NM_001035.3(RYR2):c.11092-13_11092-11dup	noncoding	Benign
1	237759858	GACT	G	A237759859C	RYR2	NM_001035.3(RYR2):c.11402+7_11402+9del	noncoding	Benign
1	237760814	C	CAATGAATGGAGACATGT	T237760832A	RYR2	NM_001035.3(RYR2):c.11403-140_11403-124dup	noncoding	Benign
1	237778781	TA	T	A237778783C	RYR2	NM_001035.3(RYR2):c.11880+13del	noncoding	Benign
1	237778782	AACTG	A	A237778783C	RYR2	NM_001035.3(RYR2):c.11880+13_11880+16del	noncoding	Benign/Likely_benign
1	237783983	GC	AG	G237783983A	RYR2	NM_001035.3(RYR2):c.12271_12272delinsAG:p.Ala4091Arg	coding	Pathogenic
1	237785720	T	TG	A237785721G	RYR2	NM_001035.3(RYR2):c.13261-249_13261-248insG	noncoding	Benign
1	237794327	C	CGG	A237794328G	RYR2	NM_001035.3(RYR2):c.13913+330_13913+331insGG	noncoding	Benign
1	237798412	C	CTATT	G237798416T	RYR2	NM_001035.3(RYR2):c.14090+245_14090+246insTTAT	noncoding	Benign
1	237801833	A	AT	G237801846T	RYR2	NM_001035.2(RYR2):c.14091-11dup	noncoding	Benign/Likely_benign
1	237801833	AT	A	T237801845G	RYR2	NM_001035.3(RYR2):c.14091-11del	noncoding	Benign/Likely_benign
1	237831862	T	TTTGA	T237831866A	RYR2	NM_001035.3(RYR2):c.14808+300_14808+301insATTG	noncoding	Benign
1	239908624	GCCTGAGGAGGA	T	G239908624T	CHRM3	NM_000740.3(CHRM3):c.1173_1184delinsT:p.Pro392fs	coding	Pathogenic
1	240092723	T	TGCA	T240092747A	FMN2	NM_020066.5(FMN2):c.617_619AGC[8]:p.Gln212dup	coding	Benign
1	240092766	A	ACAG	T240092786A	FMN2	NM_020066.5(FMN2):c.659_661AGC[7]:p.Gln225dup	coding	Benign
1	240093499	G	GC	G240093504C	FMN2	NM_020066.5(FMN2):c.1394dup:p.Ala466fs	coding	Pathogenic
1	240207174	ATT	A	T240207175G	FMN2	NM_020066.5(FMN2):c.2363_2364del:p.Ile788fs	coding	Pathogenic
1	240207324	CA	C	A240207327C	FMN2	NM_020066.5(FMN2):c.2515del:p.Thr839fs	coding	Pathogenic
1	241497872	ACTGCT	A	C241497878G	FH	NM_000143.3(FH):c.1479_1483AGCAG[1]:p.Glu495fs	coding	Pathogenic
1	241497884	TGA	T	G241497887T	FH	NM_000143.3(FH):c.1473_1474TC[1]:p.Leu492fs	coding	Pathogenic
1	241497891	GC	G	C241497893A	FH	NM_000143.3(FH):c.1469del:p.Gly490fs	coding	Pathogenic/Likely_pathogenic
1	241497911	CCTTT	C	C241497912A	FH	NM_000143.3(FH):c.1446_1449del:p.Glu484fs	coding	Pathogenic
1	241497923	A	ATCCATTTT	G241497933C	FH	NM_000143.3(FH):c.1430_1437dup:p.Ser480fs	coding	Pathogenic
1	241497960	C	CT	G241497963T	FH	NM_000143.3(FH):c.1400dup:p.Ala468fs	coding	Pathogenic
1	241500456	T	TGTGA	C241500459G	FH	NM_000143.3(FH):c.1370_1371insTCAC:p.Ala458fs	coding	Pathogenic
1	241500468	TAG	T	G241500472C	FH	NM_000143.3(FH):c.1355_1356CT[1]:p.Leu453fs	coding	Pathogenic
1	241500474	C	CTCAT	C241500483T	FH	NM_000143.3(FH):c.1345_1348ATGA[3]:p.Ser452_Leu453insTer	coding	Pathogenic
1	241500474	CTCAT	C	T241500479C	FH	NM_000143.3(FH):c.1345_1348ATGA[1]:p.Asn450fs	coding	Pathogenic
1	241500479	TC	T	C241500480A	FH	NM_000143.3(FH):c.1347del:p.Met449fs	coding	Pathogenic
1	241500486	C	CTTGTTGATCCTTTCTGTATTGGCCTGGATTCCCACCACGCAGT	T241500532G	FH	NM_000143.3(FH):c.1298_1340dup:p.Met449fs	coding	Pathogenic
1	241500490	T	TTGATCCTTTCTGTATTGGCCTGGATTCCCACCACGCAGTTTTC	T241500536A	FH	NM_000143.3(FH):c.1294_1336dup:p.Asn446fs	coding	Pathogenic
1	241500495	C	CCTTT	G241500502T	FH	NM_000143.3(FH):c.1328_1331dup:p.Ile445fs	coding	Pathogenic
1	241500528	G	GT	C241500533T	FH	NM_000143.4(FH):c.1298dup:p.Asn433fs	coding	Pathogenic
1	241500533	CT	C	T241500534G	FH	NM_000143.3(FH):c.1293del:p.Glu432fs	coding	Pathogenic
1	241500539	AG	A	G241500541A	FH	NM_000143.4(FH):c.1287del:p.Phe430fs	coding	Pathogenic
1	241500563	GC	G	C241500565T	FH	NM_000143.3(FH):c.1263del:p.Arg421fs	coding	Pathogenic
1	241500575	G	GT	A241500577T	FH	NM_000143.3(FH):c.1251dup:p.His418fs	coding	Pathogenic
1	241500598	T	TGAGTGA	A241500608T	FH	NM_000143.3(FH):c.1237-14_1237-9dup	noncoding	Benign/Likely_benign
1	241502469	CA	C	A241502473T	FH	NM_000143.3(FH):c.1209del:p.Phe403fs	coding	Pathogenic
1	241502473	AT	A	T241502474G	FH	NM_000143.3(FH):c.1205del:p.His402fs	coding	Pathogenic
1	241502478	CA	C	A241502479T	FH	NM_000143.3(FH):c.1200del:p.Asn400fs	coding	Pathogenic
1	241502504	ACATGGTTCCC	A	G241502509A	FH	NM_000143.3(FH):c.1165_1174del:p.Gly389fs	coding	Pathogenic
1	241502536	GGTCA	G	G241502537T	FH	NM_000143.3(FH):c.1139_1142del:p.Met380fs	coding	Pathogenic
1	241502540	A	AT	G241502543T	FH	NM_000143.3(FH):c.1138dup:p.Met380fs	coding	Pathogenic
1	241502540	AT	A	T241502542G	FH	NM_000143.3(FH):c.1138del:p.Ala379_Met380insTer	coding	Pathogenic
1	241502566	CT	C	T241502568G	FH	NM_000143.3(FH):c.1112del:p.Lys371fs	coding	Pathogenic
1	241504063	GTTCA	G	C241504066T	FH	NM_000143.3(FH):c.1083_1086del:p.Glu362fs	coding	Pathogenic
1	241504067	AT	A	T241504071C	FH	NM_000143.3(FH):c.1082del:p.Asn361fs	coding	Pathogenic
1	241504093	G	GA	C241504095A	FH	NM_000143.3(FH):c.1056dup:p.Leu353fs	coding	Pathogenic
1	241504108	CA	C	A241504109G	FH	NM_000143.3(FH):c.1041del:p.Gly348fs	coding	Pathogenic
1	241504121	TC	T	C241504122G	FH	NM_000143.3(FH):c.1028del:p.Arg343fs	coding	Pathogenic
1	241504149	C	CT	G241504151T	FH	NM_000143.4(FH):c.1000dup:p.Ser334fs	coding	Pathogenic
1	241504158	G	GT	A241504160T	FH	NM_000143.3(FH):c.991dup:p.Thr331fs	coding	Pathogenic
1	241504204	CCA	C	C241504205G	FH	NM_000143.3(FH):c.944_945del:p.Leu315fs	coding	Pathogenic
1	241504230	GT	G	T241504231G	FH	NM_000143.3(FH):c.919del:p.Thr307fs	coding	Pathogenic
1	241504231	TGACAAAA	T	A241504233G	FH	NM_000143.3(FH):c.912_918del:p.Phe305fs	coding	Pathogenic
1	241505995	TCACTAACCTGTAAGTGCAG	T	A241505997C	FH	NM_000143.4(FH):c.893_904+7del	noncoding	Pathogenic
1	241506027	CA	C	A241506029C	FH	NM_000143.3(FH):c.879del:p.Ala294fs	coding	Pathogenic
1	241506070	AACAGCAGTGCCTCCAGCTGCG	A	C241506072G	FH	NM_000143.3(FH):c.816_836del:p.Ala273_Val279del	coding	Pathogenic
1	241506079	G	GCCTC	A241506085C	FH	NM_000143.4(FH):c.824_827dup:p.Thr277fs	coding	Pathogenic
1	241506098	TA	T	A241506099G	FH	NM_000143.3(FH):c.808del:p.Tyr270fs	coding	Pathogenic
1	241506100	GATTCTTGGCATGGCAGCTTTT	G	G241506108T	FH	NM_000143.3(FH):c.786_806del:p.Lys263_Ile269del	coding	Pathogenic/Likely_pathogenic
1	241506101	AT	A	T241506103C	FH	NM_000143.3(FH):c.805del:p.Ile269fs	coding	Pathogenic
1	241506109	C	CA	T241506111A	FH	NM_000143.3(FH):c.797dup:p.Met266fs	coding	Pathogenic
1	241506125	CTT	C	T241506126G	FH	NM_000143.4(FH):c.780_781del:p.Arg261fs	coding	Pathogenic
1	241508599	ATACCTGCCCAAGAGTAAGTG	A	T241508600G	FH	NM_000143.3(FH):c.722_738+3del	noncoding	Pathogenic
1	241508603	CT	C	T241508604G	FH	NM_000143.3(FH):c.737del:p.Gln246fs	coding	Pathogenic
1	241508665	CA	C	A241508668C	FH	NM_000143.3(FH):c.675del:p.Phe225fs	coding	Pathogenic
1	241508668	ACT	A	C241508671T	FH	NM_000143.3(FH):c.669_670AG[1]:p.Glu224fs	coding	Pathogenic
1	241508671	CTT	C	T241508673G	FH	NM_000143.3(FH):c.668_669del:p.Lys223fs	coding	Pathogenic
1	241508677	A	AT	G241508682T	FH	NM_000143.4(FH):c.663dup:p.Ser222fs	coding	Pathogenic
1	241508754	TGCATTGCTGTGGGAAAAGTATCA	C	T241508754C	FH	NM_000143.3(FH):c.564_587delinsG:p.Asn188fs	coding	Pathogenic
1	241508757	ATTGCTG	A	T241508759G	FH	NM_000143.3(FH):c.578_583del:p.Thr193_Ala194del	coding	Pathogenic/Likely_pathogenic
1	241508771	AGT	A	G241508772A	FH	NM_000143.3(FH):c.568_569del:p.Thr190fs	coding	Pathogenic
1	241508777	AT	A	T241508780G	FH	NM_000143.3(FH):c.563del:p.Asn188fs	coding	Pathogenic
1	241508778	TTTGAGCTCTG	T	A241508782G	FH	NM_000143.4(FH):c.556-3_562del	coding	Pathogenic
1	241508783	GC	G	C241508784T	FH	NM_000143.4(FH):c.557del:p.Ser186fs	coding	Pathogenic
1	241508783	GCT	G	C241508786G	FH	NM_000143.3(FH):c.556_557delAG	coding	Pathogenic
1	241511968	T	TCA	G241511969C	FH	NM_000143.3(FH):c.553_554insTG:p.Gln185fs	coding	Pathogenic
1	241511997	CA	C	A241511998C	FH	NM_000143.3(FH):c.524del:p.Val175fs	coding	Pathogenic
1	241512017	GT	G	T241512019C	FH	NM_000143.3(FH):c.504del:p.Glu168fs	coding	Pathogenic/Likely_pathogenic
1	241512037	AT	A	T241512039G	FH	NM_000143.4(FH):c.484del:p.Ile162fs	coding	Pathogenic
1	241512078	C	CT	G241512080T	FH	NM_000143.3(FH):c.443dup:p.Thr149fs	coding	Pathogenic
1	241512082	G	GT	C241512085T	FH	NM_000143.3(FH):c.439dup:p.Thr147fs	coding	Pathogenic
1	241512090	TC	T	C241512092A	FH	NM_000143.4(FH):c.431del:p.Gly144fs	coding	Pathogenic
1	241512103	AC	A	C241512105A	FH	NM_000143.4(FH):c.418del:p.Val140fs	coding	Pathogenic
1	241512122	CATTTA	C	A241512128C	FH	NM_000143.4(FH):c.395_399del:p.Lys131_Leu132insTer	coding	Pathogenic
1	241512126	TA	T	A241512128T	FH	NM_000143.3(FH):c.395del:p.Lys131_Leu132insTer	coding	Pathogenic
1	241512149	G	GA	T241512156A	FH	NM_000143.3(FH):c.379-12dup	noncoding	Benign
1	241513627	AT	A	T241513629A	FH	NM_000143.3(FH):c.353del:p.Asn118fs	coding	Pathogenic
1	241513636	CT	C	T241513639G	FH	NM_000143.4(FH):c.344del:p.Lys115fs	coding	Pathogenic
1	241513661	TTTACTTCAGCGGCCGCTCG	T	T241513662C	FH	NM_000143.3(FH):c.301_319del:p.Arg101fs	coding	Pathogenic
1	241513664	AC	A	C241513665T	FH	NM_000143.3(FH):c.316del:p.Glu105_Val106insTer	coding	Pathogenic
1	241513679	CGCTTCAA	C	C241513681A	FH	NM_000143.3(FH):c.295_301del:p.Leu99fs	coding	Pathogenic
1	241517171	ATGCCACTTAC	A	C241517174G	FH	NM_000143.3(FH):c.267+1_267+10del	noncoding	Pathogenic
1	241517205	CA	C	A241517207T	FH	NM_000143.4(FH):c.243del:p.Ile81fs	coding	Pathogenic
1	241517209	C	CT	A241517212T	FH	NM_000143.3(FH):c.239dup:p.Ile81fs	coding	Pathogenic
1	241517211	T	TA	G241517215A	FH	NM_000143.3(FH):c.237dup:p.Lys80Ter	coding	Pathogenic
1	241517227	T	TC	T241517229C	FH	NM_000143.3(FH):c.221dup:p.Ser75fs	coding	Pathogenic
1	241517260	T	TGGCA	C241517265G	FH	NM_000143.3(FH):c.185_188dup:p.Asn64fs	coding	Pathogenic
1	241517271	G	GTTCA	C241517276T	FH	NM_000143.3(FH):c.174_177dup:p.Leu60Ter	coding	Pathogenic
1	241517301	AGGAATTTT	A	A241517304C	FH	NM_000143.4(FH):c.140_147del:p.Gln47fs	coding	Pathogenic
1	241517314	TG	T	G241517315C	FH	NM_000143.3(FH):c.134del:p.Ala45fs	coding	Pathogenic
1	241519592	ATTCGAGCCGCG	A	A241519597G	FH	NM_000143.3(FH):c.120_130del:p.Ala41fs	coding	Pathogenic
1	241519717	G	GT	A241519719T	FH	NM_000143.4(FH):c.5dup:p.Tyr2Ter	coding	Pathogenic
1	243304732	AT	A	T243304733G	SDCCAG8	NM_006642.5(SDCCAG8):c.696del:p.Thr231_Tyr232insTer	coding	Pathogenic
1	243330627	AG	A	G243330630C	SDCCAG8	NM_006642.5(SDCCAG8):c.1159del:p.Ala387fs	coding	Pathogenic
1	243341153	C	CG	A243341157G	SDCCAG8	NM_006642.5(SDCCAG8):c.1339dup:p.Glu447fs	coding	Pathogenic
1	243344276	AG	A	G243344278A	SDCCAG8	NM_006642.5(SDCCAG8):c.1420del:p.Glu474fs	coding	Pathogenic
1	243344297	CA	C	A243344302C	SDCCAG8	NM_006642.5(SDCCAG8):c.1444del:p.Thr482fs	coding	Pathogenic
1	243344378	C	CA	T243344380A	SDCCAG8	NM_006642.5(SDCCAG8):c.1473+48dup	noncoding	Benign
1	243415710	AAGAT	A	A243415713C	SDCCAG8	NM_006642.5(SDCCAG8):c.1628_1631del:p.Asp543fs	coding	Pathogenic
1	243426516	AGTGT	A	G243426519C	SDCCAG8	NM_006642.5(SDCCAG8):c.1944_1945GT[1]:p.Cys649fs	coding	Pathogenic
1	244054372	TC	T	C244054373A	ZBTB18	NM_006352.4(ZBTB18):c.572del:p.Asp190_Ser191insTer	coding	Pathogenic
1	244054573	T	TA	T244054575A	ZBTB18	NM_006352.4(ZBTB18):c.773dup:p.Tyr258Ter	coding	Pathogenic
1	244054716	CAG	C	A244054717G	ZBTB18	NM_006352.4(ZBTB18):c.916_917del:p.Arg306fs	coding	Pathogenic
1	244054741	C	CG	T244054742G	ZBTB18	NM_006352.4(ZBTB18):c.940_941insG:p.Leu314fs	coding	Pathogenic
1	244054803	TGATGA	T	G244054809T	ZBTB18	NM_006352.4(ZBTB18):c.1003_1007GATGA[1]:p.Glu336fs	coding	Pathogenic
1	244055115	C	CA	C244055117A	ZBTB18	NM_006352.4(ZBTB18):c.1315dup:p.Thr439fs	coding	Pathogenic
1	244055122	ACC	A	C244055124A	ZBTB18	NM_205768.3(ZBTB18):c.1350_1351del:p.Gln451fs	coding	Pathogenic
1	244842190	T	TG	A244842191G	COX20	NM_198076.6(COX20):c.158-5_158-4insG	noncoding	Benign
1	244843190	T	TAGAAA	G244843195A	COX20	NM_198076.6(COX20):c.*18_*19insAAGAA	noncoding	Benign
1	244854456	AT	TC	A244854456T	HNRNPU	NM_031844.3(HNRNPU):c.2471_2472delinsGA:p.Tyr824Ter	coding	Pathogenic
1	244855470	CCT	C	C244855473G	HNRNPU	NM_031844.3(HNRNPU):c.2302_2303AG[1]:p.Gly769fs	coding	Pathogenic
1	244855487	A	AC	A244855490C	HNRNPU	NM_031844.3(HNRNPU):c.2288dup:p.Gly763_Ser764insTer	coding	Pathogenic
1	244855504	CAG	C	A244855505G	HNRNPU	NM_031844.3(HNRNPU):c.2270_2271del:p.Pro757fs	coding	Pathogenic
1	244855985	C	CA	C244855987A	HNRNPU	NM_031844.3(HNRNPU):c.2085dup:p.Gly696fs	coding	Pathogenic
1	244856556	C	CA	C244856559A	HNRNPU	NM_031844.3(HNRNPU):c.1812dup:p.Val605fs	coding	Pathogenic
1	244856789	T	TG	C244856796G	HNRNPU	NM_031844.3(HNRNPU):c.1681dup:p.Gln561fs	coding	Pathogenic
1	244856806	CA	C	A244856807G	HNRNPU	NM_031844.3(HNRNPU):c.1664del:p.Leu555fs	coding	Pathogenic
1	244857693	CT	C	T244857694G	HNRNPU	NM_031844.3(HNRNPU):c.1518del:p.Gly507fs	coding	Pathogenic
1	244858012	T	TCA	A244858017C	HNRNPU	NM_031844.3(HNRNPU):c.1491_1492dup:p.Glu498fs	coding	Pathogenic
1	244858784	TCA	T	C244858787G	HNRNPU	NM_031844.3(HNRNPU):c.1171_1172TG[1]:p.Cys391_Glu392delinsTer	coding	Pathogenic
1	244858821	C	CA	T244858823A	HNRNPU	NM_031844.3(HNRNPU):c.1137dup:p.Gly380fs	coding	Pathogenic
1	244859305	AG	A	G244859306C	HNRNPU	NM_031844.3(HNRNPU):c.1086del:p.Trp363fs	coding	Pathogenic
1	244859306	GC	G	C244859308A	HNRNPU	NM_031844.3(HNRNPU):c.1085del:p.Gly362fs	coding	Pathogenic
1	244862672	TCGTGGTC	T	C244862673T	HNRNPU	NM_031844.3(HNRNPU):c.743_749del:p.Arg248fs	coding	Pathogenic
1	244863647	CTCCGCCGCCT	C	G244863654T	HNRNPU	NM_031844.3(HNRNPU):c.651_660del:p.Gly218fs	coding	Pathogenic
1	244863679	G	GC	T244863682C	HNRNPU	NM_031844.3(HNRNPU):c.628dup:p.Ala210fs	coding	Pathogenic
1	244863736	G	GTGGGGCCGCTGCTCTTCCCCGC	G244863759T	HNRNPU	NM_031844.3(HNRNPU):c.550_571dup:p.Thr191fs	coding	Pathogenic
1	244863823	TG	T	G244863824C	HNRNPU	NM_031844.3(HNRNPU):c.484del:p.Gln162fs	coding	Pathogenic
1	244863933	CT	GG	C244863933G	HNRNPU	NM_031844.3(HNRNPU):c.374_375delinsCC:p.Glu125Ala	coding	Benign
1	244863985	TCTCCTAG	T	T244863990A	HNRNPU	NM_031844.3(HNRNPU):c.316_322del:p.Leu106fs	coding	Pathogenic
1	244864054	T	TC	T244864056C	HNRNPU	NM_031844.3(HNRNPU):c.253dup:p.Glu85fs	coding	Pathogenic
1	244864101	GCGCCCAGCGGAATCCC	G	C244864109G	HNRNPU	NM_031844.3(HNRNPU):c.191_206del:p.Gly64fs	coding	Pathogenic
1	244864142	CG	C	G244864145C	HNRNPU	NM_031844.3(HNRNPU):c.165del:p.Asn57fs	coding	Pathogenic
1	244864292	C	AAT	C244864292A	HNRNPU	NM_031844.3(HNRNPU):c.16delinsATT:p.Val6fs	coding	Pathogenic
1	245688125	CGGGACCTCGCCCCCCAGCTCCG	C	A245688129C	KIF26B	NM_018012.4(KIF26B):c.5146_5167del:p.Thr1716fs	coding	Pathogenic
1	247419159	TATA	T	A247419160T	NLRP3	NM_001243133.2(NLRP3):c.277+83_277+85del	noncoding	Benign
1	247448679	TC	T	C247448681T	NLRP3	NM_004895.4(NLRP3):c.*177del	noncoding	Benign
1	247448849	C	CT	C247448856T	NLRP3	NM_004895.4(NLRP3):c.*351dup	noncoding	Benign
1	248626807	CAG	C	G248626809A	OR2T11	NM_001001964.1(OR2T11):c.320_321del:p.Gly106_Ser107insTer	coding	Benign
2	1456222	C	CG	A1456228G	TPO	NM_001206744.2(TPO):c.764dup:p.Gly256fs	coding	Pathogenic
2	1477447	A	ACGGC	C1477454G	TPO	NM_001206744.2(TPO):c.1184_1187dup:p.Ala397fs	coding	Pathogenic
2	1484750	AC	A	C1484753G	TPO	NM_001206744.2(TPO):c.1496del:p.Pro499fs	coding	Pathogenic
2	1493987	C	CT	G1493989T	TPO	NM_001206744.2(TPO):c.1955dup:p.Phe653fs	coding	Pathogenic
2	1496646	G	GT	G1496648T	TPO	NM_001206744.2(TPO):c.2268dup:p.Glu757Ter	coding	Pathogenic
2	1503975	AC	A	C1503982T	TPO	NM_001206744.2(TPO):c.2421del:p.Cys808fs	coding	Pathogenic
2	1503982	CT	C	T1503983G	TPO	NM_001206744.2(TPO):c.2422del:p.Cys808fs	coding	Pathogenic
2	1504072	CT	C	T1504073G	TPO	NM_001206744.2(TPO):c.2512del:p.Cys838fs	coding	Pathogenic
2	1635502	C	CGTGATTCAAG	T1635513G	PXDN	NM_012293.3(PXDN):c.4216_4225dup:p.Arg1409delinsProTer	coding	Pathogenic
2	1638965	CCT	C	C1638966G	PXDN	NM_012293.3(PXDN):c.4085_4086del:p.Gln1362fs	coding	Pathogenic
2	1649210	CA	C	A1649211G	PXDN	NM_012293.3(PXDN):c.2569del:p.Cys857fs	coding	Pathogenic
2	1649211	AG	A	G1649218T	PXDN	NM_012293.3(PXDN):c.2568del:p.Cys857fs	coding	Pathogenic
2	1649382	TGGACACCAGGCGCGGCATGGGAA	T	A1649385G	PXDN	NM_012293.3(PXDN):c.2375_2397del:p.Leu792fs	coding	Pathogenic
2	1680225	A	ACTGAG	G1680232T	PXDN	NM_012293.3(PXDN):c.693_697dup:p.Val233fs	coding	Pathogenic
2	1889336	AAC	A	A1889339C	MYT1L	NM_001303052.2(MYT1L):c.2423_2424del:p.Cys808fs	coding	Pathogenic
2	1889348	TC	T	C1889349A	MYT1L	NM_001303052.2(MYT1L):c.2412del:p.Met804fs	coding	Pathogenic
2	1892131	TG	T	G1892134C	MYT1L	NM_001303052.2(MYT1L):c.2188del:p.His730fs	coding	Pathogenic
2	1892196	G	GC	G1892202C	MYT1L	NM_001303052.2(MYT1L):c.2123dup:p.Ser709fs	coding	Pathogenic
2	1917289	CA	C	A1917290C	MYT1L	NM_001303052.2(MYT1L):c.1533del:p.Cys511fs	coding	Pathogenic
2	1922547	GC	A	G1922547A	MYT1L	NM_001303052.2(MYT1L):c.1221_1222delinsT:p.Glu407fs	coding	Pathogenic
2	1922700	TG	T	G1922701T	MYT1L	NM_001303052.2(MYT1L):c.1068del:p.Asn356fs	coding	Pathogenic
2	1923008	T	TC	T1923010C	MYT1L	NM_001303052.2(MYT1L):c.760dup:p.Asp254fs	coding	Pathogenic
2	1923162	TG	T	G1923164C	MYT1L	NM_001303052.2(MYT1L):c.606del:p.Lys203fs	coding	Pathogenic
2	1943135	CT	C	T1943136G	MYT1L	NM_001303052.2(MYT1L):c.351del:p.Asp119fs	coding	Pathogenic
2	3387978	G	GC	G3387984C	TRAPPC12	NM_016030.6(TRAPPC12):c.360dup:p.Glu121fs	coding	Pathogenic
2	3580103	C	CT	A3580108T	RPS7	NM_001011.4(RPS7):c.357-3dup	noncoding	Benign
2	3604383	GC	G	C3604385T	COLEC11	NM_024027.5(COLEC11):c.45del:p.Phe16fs	coding	Pathogenic
2	5693752	C	CCAGCAGCAGCGG	G5693784A	SOX11	NM_003108.4(SOX11):c.1039_1050AGCGGCAGCAGC[3]:p.347_350SGSS[3]	coding	Benign/Likely_benign
2	5693883	GGGAACCTGTCCCT	G	G5693885T	SOX11	NM_003108.4(SOX11):c.1164_1176del:p.Asn389fs	coding	Pathogenic
2	8730955	CTG	C	G8730957T	KIDINS220	NM_020738.4(KIDINS220):c.5079_5080del:p.Asn1693fs	coding	Pathogenic
2	8731515	C	CA	T8731519A	KIDINS220	NM_020738.4(KIDINS220):c.4520dup:p.Leu1507fs	coding	Pathogenic
2	8731618	A	AG	A8731625G	KIDINS220	NM_020738.4(KIDINS220):c.4417dup:p.Leu1473fs	coding	Pathogenic
2	8731759	GA	G	A8731760G	KIDINS220	NM_020738.4(KIDINS220):c.4276del:p.Ser1426fs	coding	Pathogenic
2	9491159	GA	G	A9491162C	ADAM17	NM_003183.6(ADAM17):c.2083-9del	noncoding	Benign
2	9493742	CCTACCAAAAGTATTGATGCTCAG	C	A9493745G	ADAM17	NM_003183.6(ADAM17):c.1975_1993+4del	noncoding	Pathogenic
2	9494757	G	GT	G9494760T	ADAM17	NM_003183.6(ADAM17):c.1793dup:p.Asn598fs	coding	Pathogenic
2	9502175	GT	G	T9502176G	ADAM17	NM_003183.6(ADAM17):c.1645del:p.Thr549fs	coding	Pathogenic
2	9527798	CTCTG	C	G9527802A	ADAM17	NM_003183.6(ADAM17):c.603_606del:p.Asp201fs	coding	Pathogenic
2	10043621	TGCC	T	G10043637C	KLF11	NM_003597.5(KLF11):c.-95_-93GCC[5]	noncoding	Benign
2	10052724	G	GTT	A10052735T	KLF11	NM_003597.5(KLF11):c.*226_*227dup	noncoding	Benign
2	10058930	C	CG	C10058934G	CYS1	NM_001037160.2(CYS1):c.399dup:p.Glu134fs	coding	Benign
2	10440846	TCTGGAATTGCTGCATGAGTTGC	T	G10440850A	ODC1	NM_001287190.1:c.1242_1263del22	coding	Pathogenic
2	10441508	C	CCA	G10441512A	ODC1	NM_002539.3(ODC1):c.1240_1241dup:p.Trp414fs	coding	Pathogenic
2	11779629	TG	T	G11779630C	LPIN1	NM_001349206.2(LPIN1):c.942del:p.Pro315fs	coding	Pathogenic
2	11782200	GTCT	G	T11782207C	LPIN1	NM_001349206.2(LPIN1):c.958_960TCT[2]:p.Ser322del	coding	Benign/Likely_benign
2	11784887	G	GGA	T11784892G	LPIN1	NM_001349206.2(LPIN1):c.1361_1362GA[3]:p.Asp455fs	coding	Pathogenic
2	11804570	AG	A	G11804572T	LPIN1	NM_001349206.2(LPIN1):c.2162+1del	coding	Pathogenic
2	15402288	AT	A	T15402294G	NBAS	NM_015909.4(NBAS):c.2950del:p.Ile984fs	coding	Pathogenic/Likely_pathogenic
2	15427803	T	TA	T15427813A	NBAS	NM_015909.4(NBAS):c.2340-18dup	noncoding	Benign
2	15534602	G	GA	C15534606A	NBAS	NM_015909.4(NBAS):c.686dup:p.Ser230fs	coding	Pathogenic
2	15536459	CAGG	C	G15536462T	NBAS	NM_015909.4(NBAS):c.603_605del:p.Leu202del	coding	Pathogenic
2	15536504	TATC	T	T15536506A	NBAS	NM_015909.4(NBAS):c.558_560del:p.Ile187del	coding	Pathogenic
2	15942129	A	ACTCG	A15942136C	MYCN	NM_005378.6(MYCN):c.68_71dup:p.Gln25fs	coding	Pathogenic
2	15942191	A	AC	G15942199C	MYCN	NM_005378.6(MYCN):c.134dup:p.Glu47fs	coding	Pathogenic
2	15942503	GC	G	C15942506A	MYCN	NM_005378.6(MYCN):c.442del:p.Gln148fs	coding	Pathogenic
2	15942566	GCCGGCCGCGCCGGGGCCGCCCTGCCCGCCGAGCTCGCCCAC	G	G15942575C	MYCN	NM_005378.6(MYCN):c.511_551del:p.Ala171fs	coding	Pathogenic
2	15945500	AG	A	G15945501A	MYCN	NM_005378.6(MYCN):c.799del:p.Asp267fs	coding	Pathogenic
2	15945601	CTG	C	T15945604C	MYCN	NM_005378.6(MYCN):c.900_901TG[1]:p.Val301fs	coding	Pathogenic
2	15945762	G	GC	G15945764C	MYCN	NM_005378.6(MYCN):c.1061dup:p.Ser355fs	coding	Pathogenic
2	15945790	T	TC	A15945797C	MYCN	NM_005378.6(MYCN):c.1094dup:p.Ala367fs	coding	Pathogenic
2	15945804	A	AAG	C15945809A	MYCN	NM_005378.6(MYCN):c.1103_1104AG[3]:p.Ser369fs	coding	Pathogenic
2	15945823	ACT	A	C15945826G	MYCN	NM_005378.6(MYCN):c.1122_1123CT[1]:p.Asn374_Ser375insTer	coding	Pathogenic
2	15945832	CG	C	G15945834A	MYCN	NM_005378.6(MYCN):c.1132del:p.Glu378fs	coding	Pathogenic
2	19930540	AG	A	G19930542C	WDR35	NM_020779.4(WDR35):c.2976del:p.Leu993fs	coding	Pathogenic
2	19931374	AG	A	G19931376T	WDR35	NM_020779.4(WDR35):c.2858del:p.Pro953fs	coding	Pathogenic
2	19962311	T	TC	A19962314C	WDR35	NM_020779.4(WDR35):c.1195-1699dup	coding	Pathogenic
2	19977630	GCACAGAGATGTTTCTAAAGAACAATCTTATCACATTGCTCCCATTCTTAAAACTTTTCATTGGCCTCCCAAGTGCTGTTGGACTTAAGTCCAAACACCTTAATATAACTTATGATCTGCATGATCTGGCCTCTGTTTCTCTCTCTAGATTCACTGCATACTACTCTTCACTGTTAGTATTATACCCTACTGATAATCAACTTTTTTCAATGGCCCAAACATAGCTAAGTGCAACTCCTCTGGACCTCCTCAAATACTACTTCTTAGGGCAGAGACATTCTACACACCAACCTACCTTGTGGCTAATGCCTCAGCATCAGCATCACTTCCTCCAGGAAGCCTTTCCTGATCCCTCCAAGTCTGCATTAGGTGGCACTTCTACATGCTCCTGTATTTTCCCCATCTTAGCGCTTATCACAGGATACTGTAATTTCTCAGTTACTCATCCATCTCTCCTGATCTAGGTCTGGTCATTGCTGTACCCTTAGTTCCTAAAATGATAGCTGTTGCTTTATAGGCTCTCAGAAACATTTGTTGACTACATGAAGTTACACACACACACACAGACACACACACACACACACACACACAGAGCGAGCGAGAGAGAGAAATAAAAATGATTTTAAAATAAATTATTTATCTACAGAGTTTCAAATTAAAACAAAGGTGCAGACTCTCAGAAGACCCAGTTTTATCTATTACTAGAATTTGAAAAATACAGGTTTTTAAGGCTATAAACTACAACCAACAATGACATATTCAGTTCCAATAAAAACGACCACAGACTTTTTGAAACTAAAGTCTATATATTTGTACAGACTAACCAATATAAAAAGAAATTACATAATGAGGCAGACATGTTTAAAATAATGCTGAAAAGTTAATTCAATTTTTTCAATGCCACTGTAGGAAATAAAAAAATTTCCTTGAATATACATAAAAACAGATGGTTAAAATCAAAGAACGGTTCTTGAATGTCGTCAAATTGTATATCAAATAGTTTCCCTTTTATGTCTATTTTTCAATCAGAATGCTAACATATGGTAACTAACTTAAATCTCTAAAGAAGAAAACTGTCAGCCAGATATTGATCTTAGTTCTATGTCCAATCAATACATTACCATCCACTGAACCAACTATCACAGCCCCATCTTCATATACAATGCAGATCTTCTGTCCGTCAGCATTCCAGCTCATACTGCGAACAACTGATTTATTTCGATTGTTGATCATCTCCTCAATCCAAGAGCCTGTTTTCACAAATTTAAAAAATTACAAGTCAAAACTTTCACATCTATTAAATAGTAGTTAAGAATTGAAAGCATTCCATAAAGTACGCCATGGGACAAATAACTGCAAAGTTTTCTACAACCTGAGACATTAAACTATAAAACTTCCAAATCCAACAAAAACAAAATGAAAAATTAACTTGGGCTTAACTGATAACTGCTTCAAAGATTATCACAGAAAACATAATAAATGCCCATCCTTTGTTTCTTCTTTCTTTCTTTCCCTCTCTCTTTCTTTCTGTCAATTAAAAATTAAACTTCATTTGCTTTTTCAGAGCTAAAACTACTGATTTTTCTGAAAGCCTAACTTTTCCCACTTGAACAATATGGTTCAGATCATAACCAATTAAAAAAACTCCAAGTAACAATAACTTTATACATATGCACATAAACTCTCCAATGAATAATTACAAGCATATTAAATGCAGCATATTAGTTACCATCACAAAGAGAATGAAGGCAAAAAAATACACAGCATATTAGGTAAAACCCTAAGCCTGCTTGAAAAAATTCTAATCAGTTTATACTACATTAGTGACACGACATCTCTAATGCCGAATGACAAAAATATTCTAGTTGTATGCAGGGTAGGAATGAGATGTAACTTGTCTTTTAGCATAACCAAACTAGAAGCAAAAAAATAGGCTATTTTGTTTTTGCTTTTCTCAAAGGCTTTTTGACATACCAACATGGGCAACTCTGGCCTGCAGCCAAGCAAATAATCATGTAATTTGGAATAACTGCCCAGAGCAGGATAACAGAATCGAGACTGAGACCCAGAGAAGACCTGAAGACCTACCTTGGAAACAGACAAAGTTTACTCCAGTCCACTGAACTTTCACATTCTATCCCCTACACACACACACACACACACACACACACACACACTTTTTAAAAAATTAAAGTATTATAGCATATCTTTAATGAAGACTTTTTAAATGGTATGCCCTGCCATTTAAAACAGCACACATGAACTTTTCAAAACAGCACACATGAACTAAGGCACCCTTCCCTTTTGAAGATGATAACTACAGGCCTCAGGAGAACATGTATTATGAGCTGCTTTTCTGGTAAAAGTGGATTATCTAAGTTAATCCTTCTTTTACTCACCCTCTCTCATAGACAAACTGTGAACCAGTAGTCAGAGTTGAGATAAAATCTGTATCCATAAAAGAAAAGGAAACTAACTGGCCCATGCAGGAAGTGAATTATTCCCTTTGACTTCTTACTAAATGTGTTTTTATCTACTGAGATAACTCTAGCCACTCATTTATTCATTCATTCAACAAATATTTATTGAACATGTACACTGTGCTATGTATTATAAAAGGTTCTACGTATAAAATGAACAAACAGTCATTTCCCCTTTCCCCTCAGAGCTTACAGTCTACTGAGGAACCAATATTAAATACACACTCACACACACATGAATGTAATTATAAACTGGAACTACCTAGAAGTAATTCTTATTGGAAATCTGGAAAAAAAAAAAGACTTATCTCAAGTAGAAGCTATTCTTCTGCTAAGAGTCTAAGTTCATTTTGGAGATGGCCAACAGT	G	A19977634C	WDR35	NM_020779.4(WDR35):c.307+214_436+1120del	noncoding	Pathogenic
2	21002263	CT	C	T21002265C	APOB	NM_000384.3(APOB):c.13158del:p.Glu4387fs	coding	Pathogenic
2	21002291	GAT	G	A21002292C	APOB	NM_000384.3(APOB):c.13129_13130del:p.Ile4377fs	coding	Pathogenic
2	21003240	TC	T	C21003241T	APOB	NM_000384.3(APOB):c.12181del:p.Glu4061fs	coding	Pathogenic
2	21004450	TC	T	C21004453T	APOB	NM_000384.2(APOB):c.11905del:p.Glu3969Asnfs	coding	Pathogenic
2	21005807	GA	TT	G21005807T	APOB	NM_000384.3(APOB):c.11060_11061delinsAA:p.Phe3687Ter	coding	Pathogenic
2	21006629	AG	A	G21006630T	APOB	NM_000384.3(APOB):c.10238del:p.Thr3413fs	coding	Pathogenic
2	21007344	GC	G	C21007345T	APOB	NM_000384.3(APOB):c.9523del:p.Ala3175fs	coding	Pathogenic
2	21007667	CT	C	T21007669C	APOB	NM_000384.3(APOB):c.9200del:p.Lys3067fs	coding	Pathogenic
2	21007687	G	GA	C21007692A	APOB	NM_000384.3(APOB):c.9180dup:p.Pro3061fs	coding	Pathogenic
2	21007748	TGAAAA	T	A21007756G	APOB	NM_000384.3(APOB):c.9110_9114TTTTC[1]:p.Phe3039fs	coding	Pathogenic
2	21009464	CA	C	A21009465G	APOB	NM_000384.3(APOB):c.7403del:p.Leu2468fs	coding	Pathogenic
2	21009931	TG	CA	T21009931C	APOB	NM_000384.3(APOB):c.6936_6937inv:p.Ile2313Val	coding	Benign/Likely_benign
2	21010324	CA	C	A21010327T	APOB	NM_000384.3(APOB):c.6543del:p.Phe2181fs	coding	Pathogenic
2	21011404	GC	G	C21011405A	APOB	NM_000384.3(APOB):c.5463del:p.His1822fs	coding	Pathogenic
2	21011601	CTGTT	C	T21011605G	APOB	NM_000384.3(APOB):c.5263_5266del:p.Asn1755fs	coding	Pathogenic
2	21011751	G	GT	G21011753T	APOB	NM_000384.3(APOB):c.5116dup:p.Thr1706fs	coding	Pathogenic
2	21012277	TG	T	G21012279T	APOB	NM_000384.3(APOB):c.4590del:p.Asn1531fs	coding	Pathogenic
2	21012515	AC	A	C21012517T	APOB	NM_000384.3(APOB):c.4352del:p.Gly1451fs	coding	Pathogenic
2	21015144	TAGCATACATAT	CCTAAG	T21015144C	APOB	NM_000384.3(APOB):c.3614_3625delinsCTTAGG:p.His1205_Asn1209delinsProTer	coding	Pathogenic
2	21019100	GT	G	T21019102C	APOB	NM_000384.3(APOB):c.3012del:p.Glu1004fs	coding	Pathogenic
2	21022860	TG	T	G21022864A	APOB	NM_000384.3(APOB):c.2786del:p.Pro929fs	coding	Pathogenic
2	21022860	T	TG	A21022865G	APOB	NM_000384.3(APOB):c.2786dup:p.Arg931fs	coding	Pathogenic
2	21025070	ATT	A	T21025072C	APOB	NM_000384.3(APOB):c.2297_2298del:p.Lys766fs	coding	Pathogenic
2	21027834	GA	G	A21027835G	APOB	NM_000384.3(APOB):c.2060del:p.Leu687fs	coding	Pathogenic
2	21033517	A	ACC	T21033520C	APOB	NM_000384.3(APOB):c.905-1_905dup	coding	Pathogenic
2	21037121	TG	T	G21037124C	APOB	NM_000384.3(APOB):c.671del:p.Pro224fs	coding	Pathogenic
2	21043895	CAGCGCAG	C	A21043896G	APOB	NM_000384.3(APOB):c.44_50del:p.Pro15fs	coding	Pathogenic
2	21043902	GGCAGCGCCA	G	C21043919G	APOB	NM_000384.3(APOB):c.26_34TGGCGCTGC[1]:p.9_11LAL[1]	coding	Benign/Likely_benign
2	21043906	GC	G	C21043907G	APOB	NM_000384.3(APOB):c.39del:p.Leu14fs	coding	Pathogenic
2	21043906	GCGCCA	G	C21043907G	APOB	NM_000384.3(APOB):c.35_39del:p.Leu12fs	coding	Pathogenic
2	21043912	GCAGCGCCA	G	C21043913G	APOB	NM_000384.3(APOB):c.26_33del:p.Leu9fs	coding	Benign
2	25161451	CG	C	G25161453A	POMC	NM_000939.4(POMC):c.433del:p.Arg145fs	coding	Pathogenic
2	25161468	G	GT	A25161470T	POMC	NM_000939.4(POMC):c.416dup:p.Tyr139Ter	coding	Pathogenic
2	25161480	G	GCC	T25161484C	POMC	NM_000939.4(POMC):c.403_404dup:p.Lys136fs	coding	Pathogenic
2	25161587	C	CGCCGCTGCT	T25161608C	POMC	NM_000939.4(POMC):c.280_288AGCAGCGGC[3]:p.94_96SSG[3]	coding	Benign/Likely_benign
2	25161659	TC	T	C25161661G	POMC	NM_000939.4(POMC):c.225del:p.Lys76fs	coding	Pathogenic
2	25164752	G	GCCACCCGAGGGGCCCCCGAGGGCCC	T25164754C	POMC	NM_000939.4(POMC):c.20_21insGGGCCCTCGGGGGCCCCTCGGGTGG:p.Ser7fs	coding	Pathogenic
2	25236944	T	TC	T25236947C	DNMT3A	NM_022552.5(DNMT3A):c.2469dup:p.Ile824fs	coding	Pathogenic
2	25240644	GAGGCCCT	G	A25240645T	DNMT3A	NM_022552.5(DNMT3A):c.2162_2168del:p.Lys721fs	coding	Pathogenic
2	25241606	TC	T	C25241610T	DNMT3A	NM_022552.5(DNMT3A):c.2037del:p.Lys680fs	coding	Pathogenic
2	25243966	TA	T	A25243969C	DNMT3A	NM_153759.3(DNMT3A):c.1300del:p.Tyr434fs	coding	Pathogenic
2	25244578	G	GC	A25244584C	DNMT3A	NM_022552.5(DNMT3A):c.1628dup:p.Arg544fs	coding	Pathogenic
2	25245296	AG	A	G25245299T	DNMT3A	NM_022552.5(DNMT3A):c.1510del:p.Leu504fs	coding	Pathogenic
2	25246214	TC	T	C25246216G	DNMT3A	NM_022552.5(DNMT3A):c.1374del:p.Lys459fs	coding	Pathogenic
2	25246655	TG	T	G25246657A	DNMT3A	NM_022552.5(DNMT3A):c.1243del:p.Gln415fs	coding	Pathogenic
2	25246660	G	GC	A25246667C	DNMT3A	NM_022552.5(DNMT3A):c.1238dup:p.Phe414fs	coding	Pathogenic
2	25247103	GCCTGGTGGAA	G	C25247105G	DNMT3A	NM_022552.5(DNMT3A):c.1060_1069del:p.Phe354fs	coding	Pathogenic
2	25247159	CTG	TT	C25247159T	DNMT3A	NM_153759.3(DNMT3A):c.448-3_448-1delinsAA	noncoding	Pathogenic
2	25247713	CCCA	C	C25247715A	DNMT3A	NM_022552.5(DNMT3A):c.889_891del:p.Trp297del	coding	Pathogenic
2	25248156	CA	C	A25248157G	DNMT3A	NM_022552.5(DNMT3A):c.735del:p.Ala246fs	coding	Pathogenic
2	25282548	G	GC	G25282553C	DNMT3A	NM_022552.5(DNMT3A):c.340dup:p.Ala114fs	coding	Pathogenic
2	25743362	GCTCC	G	T25743364A	ASXL2	NM_018263.6(ASXL2):c.2971_2974del:p.Gly991fs	coding	Pathogenic
2	25743730	TG	T	G25743731A	ASXL2	NM_018263.6(ASXL2):c.2606del:p.Pro868_Ser869insTer	coding	Pathogenic
2	25743864	TG	T	G25743867C	ASXL2	NM_018263.6(ASXL2):c.2472del:p.Ser825fs	coding	Pathogenic
2	25743912	TG	T	G25743916T	ASXL2	NM_018263.6(ASXL2):c.2424del:p.Thr809fs	coding	Pathogenic
2	25744255	G	GC	A25744258C	ASXL2	NM_018263.6(ASXL2):c.2081dup:p.Gly696fs	coding	Pathogenic
2	25744457	G	GA	G25744459A	ASXL2	NM_018263.6(ASXL2):c.1879dup:p.Ser627fs	coding	Pathogenic
2	25750312	GAC	G	C25750316G	ASXL2	NM_018263.6(ASXL2):c.1240_1241GT[1]:p.Ser415fs	coding	Pathogenic
2	25750327	TTTGG	T	G25750331T	ASXL2	NM_018263.6(ASXL2):c.1225_1228del:p.Pro409fs	coding	Pathogenic
2	26191490	A	ACAAGG	G26191497A	HADHA	NM_000182.5(HADHA):c.2134_2138dup:p.Gly715fs	coding	Pathogenic
2	26191496	C	CG	A26191500G	HADHA	NM_000182.5(HADHA):c.2132dup:p.Pro712fs	coding	Pathogenic
2	26192342	TA	T	A26192346T	HADHA	NM_000182.5(HADHA):c.1967del:p.Ile655_Leu656insTer	coding	Pathogenic/Likely_pathogenic
2	26192390	C	CTGAT	A26192395T	HADHA	NM_000182.5(HADHA):c.1916_1919dup:p.Glu641fs	coding	Pathogenic
2	26192391	TGATA	T	A26192395G	HADHA	NM_000182.5(HADHA):c.1915_1918del:p.Tyr639fs	coding	Pathogenic/Likely_pathogenic
2	26193650	GC	G	C26193653A	HADHA	NM_000182.5(HADHA):c.1811del:p.Gly604fs	coding	Pathogenic/Likely_pathogenic
2	26193667	CAT	C	A26193668G	HADHA	NM_000182.5(HADHA):c.1793_1794del:p.His598fs	coding	Pathogenic/Likely_pathogenic
2	26193740	CAG	C	A26193741G	HADHA	NM_000182.5(HADHA):c.1720_1721del:p.Leu574fs	coding	Pathogenic
2	26193773	CTGAACAGGAAGCGATG	C	T26193774C	HADHA	NM_000182.5(HADHA):c.1690-17_1690-2del	noncoding	Pathogenic
2	26194584	T	TGACTTCA	A26194595T	HADHA	NM_000182.5(HADHA):c.1668_1674dup:p.Ile559Ter	coding	Pathogenic
2	26194614	TG	T	G26194616T	HADHA	NM_000182.5(HADHA):c.1644del:p.Arg549fs	coding	Pathogenic
2	26197741	ATG	A	G26197745T	HADHA	NM_000182.5(HADHA):c.1425_1426CA[1]:p.Thr476fs	coding	Pathogenic
2	26204189	CCAGATGCCTG	C	G26204192A	HADHA	NM_000182.5(HADHA):c.1086-3_1092del	coding	Pathogenic/Likely_pathogenic
2	26209794	TG	T	G26209796A	HADHA	NM_000182.5(HADHA):c.1070del:p.Pro357fs	coding	Pathogenic
2	26230255	T	TA	C26230257A	HADHA	NM_000182.5(HADHA):c.612dup:p.Arg205Ter	coding	Pathogenic
2	26232151	T	TA	G26232153A	HADHA	NM_000182.5(HADHA):c.573+8dup	noncoding	Benign
2	26236890	TGATGA	T	G26236894A	HADHA	NM_000182.5(HADHA):c.274_278del:p.Ser92fs	coding	Pathogenic/Likely_pathogenic
2	26238929	GATACC	AT	G26238929A	HADHA	NM_000182.5(HADHA):c.180_180+5delinsAT	noncoding	Pathogenic
2	26244572	T	TGCCAATCGCCCGGCAGGCC	A26244592G	HADHA	NM_000182.5(HADHA):c.6_24dup:p.Ile9fs	coding	Pathogenic
2	26254257	G	GACT	T26254262C	HADHB	NM_000183.3(HADHB):c.5_7dup:p.Thr2dup	coding	Benign
2	26277074	C	CT	G26277076T	HADHB	NM_000183.3(HADHB):c.357dup:p.Ala120fs	coding	Pathogenic
2	26279196	C	CCGCT	G26279201C	HADHB	NM_000183.3(HADHB):c.693_696dup:p.Ala233fs	coding	Pathogenic
2	26283047	CT	C	T26283049G	HADHB	NM_000183.3(HADHB):c.1059del:p.Gly354fs	coding	Pathogenic
2	26284941	T	TG	T26284945G	HADHB	NM_000183.3(HADHB):c.1211dup:p.Gly404_Arg405insTer	coding	Pathogenic
2	26402096	T	TC	A26402099C	DRC1	NM_145038.5(DRC1):c.109dup:p.Gln37fs	coding	Pathogenic
2	26429759	C	CA	T26429761A	DRC1	NM_145038.5(DRC1):c.673dup:p.Ile225fs	coding	Pathogenic
2	26444875	CA	C	A26444877T	DRC1	NM_145038.5(DRC1):c.1325del:p.Asn442fs	coding	Pathogenic
2	26460982	GC	G	C26460983T	OTOF	NM_194248.3(OTOF):c.5581del:p.Ala1861fs	coding	Pathogenic
2	26462170	CG	C	G26462171C	OTOF	NM_194248.3(OTOF):c.5203del:p.Arg1735fs	coding	Pathogenic
2	26464055	C	CA	G26464057A	OTOF	NM_194248.3(OTOF):c.5011dup:p.Trp1671fs	coding	Pathogenic
2	26474022	A	AT	G26474024T	OTOF	NM_194248.3(OTOF):c.3376dup:p.Ile1126fs	coding	Pathogenic
2	26474622	GC	G	C26474624A	OTOF	NM_194248.3(OTOF):c.3178del:p.Ala1060fs	coding	Pathogenic
2	26475926	ACT	A	C26475929G	OTOF	NM_194248.3(OTOF):c.2977_2978del:p.Gln994fs	coding	Pathogenic
2	26475982	CGGCAAAGAGGCTGCGGGC	TGCGCTCGGAG	C26475982T	OTOF	NM_194248.3(OTOF):c.2905_2923delinsCTCCGAGCGCA:p.Ala969fs	coding	Pathogenic
2	26476258	C	CAGCT	C26476263A	OTOF	NM_194248.3(OTOF):c.2732_2735dup:p.Tyr913fs	coding	Pathogenic
2	26476308	TCC	T	C26476310T	OTOF	NM_194248.3(OTOF):c.2684_2685del:p.Gly895fs	coding	Pathogenic
2	26477251	TG	T	G26477254C	OTOF	NM_194248.3(OTOF):c.2443del:p.Gln815fs	coding	Pathogenic
2	26477420	TC	AA	T26477420A	OTOF	NM_194248.3(OTOF):c.2401_2402delinsTT:p.Glu801Leu	coding	Benign/Likely_benign
2	26477473	GC	G	C26477476T	OTOF	NM_194248.3(OTOF):c.2348del:p.Gly783fs	coding	Pathogenic
2	26479599	CG	C	G26479603C	OTOF	NM_194248.3(OTOF):c.1966del:p.Arg656fs	coding	Pathogenic
2	26479600	GGGGCCGAGGCCGCTGGGGCC	G	C26479604A	OTOF	NM_194248.3(OTOF):c.1946_1965del:p.Arg649fs	coding	Pathogenic
2	26480228	C	CT	G26480231T	OTOF	NM_194248.3(OTOF):c.1886dup:p.Pro630fs	coding	Pathogenic
2	26480848	AG	A	G26480850T	OTOF	NM_194248.3(OTOF):c.1740del:p.Ser581fs	coding	Pathogenic
2	26480937	TC	T	C26480938A	OTOF	NM_194248.3(OTOF):c.1651del:p.Glu551fs	coding	Pathogenic
2	26480979	AC	A	C26480982A	OTOF	NM_194248.3(OTOF):c.1609del:p.Trp536_Val537insTer	coding	Pathogenic
2	26480987	TG	T	G26480990C	OTOF	NM_194248.3(OTOF):c.1601del:p.Pro534fs	coding	Pathogenic
2	26482417	TCATTAGAAATCTTGCG	T	T26482420G	OTOF	NM_194248.3(OTOF):c.1552_1567del:p.Arg518fs	coding	Pathogenic
2	26483617	CG	C	G26483623C	OTOF	NM_194248.3(OTOF):c.1236del:p.Glu413fs	coding	Pathogenic
2	26484498	T	TC	A26484500C	OTOF	NM_194248.3(OTOF):c.1180dup:p.Glu394fs	coding	Pathogenic
2	26484575	CC	G	C26484575G	OTOF	NM_194248.3(OTOF):c.1103_1104delinsC:p.Gly368fs	coding	Pathogenic
2	27054676	CTGGA	C	T27054681C	AGBL5	NM_021831.6(AGBL5):c.603_606del:p.Gly202fs	coding	Pathogenic
2	27056027	T	TA	C27056029A	AGBL5	NM_021831.6(AGBL5):c.1255dup:p.Thr419fs	coding	Pathogenic
2	27057399	G	GGCTTTCCCCTCCA	A27057414C	AGBL5	NM_021831.6(AGBL5):c.1634_1646dup:p.Arg549fs	coding	Pathogenic
2	27058514	CAT	C	A27058515G	AGBL5	NM_021831.6(AGBL5):c.1787_1788del:p.His596fs	coding	Pathogenic
2	27206912	GCA	G	C27206915G	SLC5A6	NM_021095.4(SLC5A6):c.422_423del:p.Val141fs	coding	Pathogenic
2	27232193	TCAGA	T	G27232196A	CAD	NM_004341.5(CAD):c.2617_2620del:p.Asp873fs	coding	Pathogenic
2	27239368	TGCCCTTCTCCAAG	T	T27239373A	CAD	NM_004341.5(CAD):c.5296_5308del:p.Phe1766fs	coding	Pathogenic
2	27240312	CTT	C	T27240313C	CAD	NM_004341.5(CAD):c.5545_5546del:p.Phe1849fs	coding	Pathogenic
2	27309311	GCAGTGAGGCAAGATCGCGCCACTGCACTCCAGCCTGGGAGACAGAGCAAGACCCTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAATTGGGCTTGGTGGTCTCTTGGCTTCTTTCCAGCTCTAGAAATGACTCCCCAATAGTTTTCTGCTTAAAAACTTACTCATTACCACTGCAGATTCCGGATTACATATTTAATAACATATTTACTGAGGCACCATATAAAGGGTTCCGGGAGTCTCTAAAGAGCTGGAGCTACAAGAAGCCTAGGCAGGGTTAGAGTAACAAATGTGTCTATGAAGAGTGGGGATGAGTGGCATTTGCTGGGATATGGGTGTAAAGTTGATAAGGTCATGAAGGTTCAACAGATATTTATGGAGTGCCTAGTATGTGGTGGGAATAAGACTATTATCAAGGGCTCTAAAGCAGTCAGTGTACATTTTAGAGTGAAGAGGGGCATTGCAGGGTGCTAGTCCTCTTAAGCTCTGACCGGCAACCCAACCCCGTGGAAACTGGTATGCCCACTTTGAGGAGGTTGTCTGACCGTTCCAGGGTCAAGCTGCATCACTGCAAGGTGGAAACGATGGAGTGAGGCAGGCTTAGAGCCGATGTGCCTTCCAGGACAGGTAGGAGTTCCAGATAACAGCAACACATTGGACAACGGCCAACCTAAGGAACAGGAATAACACAATGAAGAGGAGGAAGGCTAAGCAGTGAGCAAGGGCTGGAGATGGGAGCATGAAATGGCAAAGGAGGGATCATGACAAAGGATTGGCAGGTTTAGGTCTCTTTCCTTCAGCACCTTTTTTTTGAGATGGAGTCTCCTCTGTTGCCCAGGCTGGAGTGCAGTAGCACAATCTTGGCTCACTGCCTCCCGGGTTCAATCAATTCTCGTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGTGTGCTCCACCACACCTGGCTAATTTTTGTATTTTTAGGAGAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAAGTGAGCCACCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACGACACCCAGCCCTTTCAGCACCCTATGAAGGGCCTGTGTGGCTTGCACTAAAGGACAACTGGCTCAAATTCTAGTGCCATCCCAGAGCTCTGTTTCCTGGCTGAGAGCCTCAAAGGCTAAATATTCAGCGGCTCTCTTGCCATGCATAGCTCTGTTAATCACAGAAAGGGCCCCTATCTGGGCCCCTTCTAAGTTCATTGATCTGTCTTGTACCAGCTGAGATTTCATCTTCCGAAATGTACGGACTATCATATAAAGTAGCATCTTTCTGTTTTAAATTAACCTTGCTCTGGTTTCAAAGAGTGTTGCAAAGGACCCTAATGTTTAGGATTTGGTTCATAAGTCTGTATTCCTTTTTTGTTTTTTCGGGTTTTTTTTGAGACGGAGTCTCGCTCTGTTGCCCAGGCTGGAGTGCGGTGGCAAGATCTTGGCTCACTGCAACCTCCGCCTCCCAGGTTCAAGCGATTCTCCTCCCTCAGCCTCCCGAGTAGCTGGGACTA	CAGG	G27309311C	MPV17	NG_008075.1(MPV17):g.16680_18253delinsCCTG	noncoding	Pathogenic
2	27311945	G	GC	A27311948C	MPV17	NM_002437.5(MPV17):c.414dup:p.Pro139fs	coding	Pathogenic
2	27312575	CG	C	G27312579C	MPV17	NM_002437.5(MPV17):c.293del:p.Pro98fs	coding	Pathogenic
2	27312584	G	GC	T27312591C	MPV17	NM_002437.5(MPV17):c.280-1dup	coding	Pathogenic
2	27313000	GC	G	C27313002A	MPV17	NM_002437.5(MPV17):c.179del:p.Gly60fs	coding	Pathogenic
2	27313012	GGACACCATGGTCA	G	C27313015G	MPV17	NM_002437.5(MPV17):c.155_167del:p.Leu52fs	coding	Pathogenic
2	27313032	GGCCTCTCTGGTGTTCCTGCAGACCCC	G	T27313040C	MPV17	NM_002437.5(MPV17):c.122_147del:p.Arg41fs	coding	Pathogenic
2	27313044	GT	G	T27313046C	MPV17	NM_002437.5(MPV17):c.135del:p.Glu45fs	coding	Pathogenic/Likely_pathogenic
2	27322495	T	TG	T27322498G	MPV17	NM_002437.5(MPV17):c.22dup:p.Gln8fs	coding	Pathogenic
2	27445435	TTCTC	T	T27445440A	IFT172	NM_015662.3(IFT172):c.4921_4922GA[2]:p.Arg1642fs	coding	Pathogenic
2	27459399	A	AT	A27459401T	IFT172	NM_015662.3(IFT172):c.2765dup:p.Tyr922Ter	coding	Pathogenic
2	27461793	CG	C	G27461795T	IFT172	NM_015662.3(IFT172):c.2158del:p.Arg720fs	coding	Pathogenic
2	27470947	A	ACT	A27470955T	IFT172	NM_015662.3(IFT172):c.1667_1668AG[4]:p.Val558fs	coding	Pathogenic
2	27476656	TAATATC	T	T27476661A	IFT172	NM_015662.3(IFT172):c.1390_1395del:p.Asp464_Ile465del	coding	Pathogenic
2	29065060	C	CGCT	C29065072T	PCARE	NM_001029883.3(PCARE):c.3669-2AGC[4]	coding	Benign/Likely_benign
2	29070995	TGGG	T	G29070997A	PCARE	NM_001029883.3(PCARE):c.3264_3266del:p.Pro1089del	coding	Benign
2	29071203	TG	CT	T29071203C	PCARE	NM_001029883.3(PCARE):c.3058_3059delinsAG:p.Gln1020Arg	coding	Benign
2	29071294	CA	C	A29071295G	PCARE	NM_001029883.3(PCARE):c.2967del:p.Val990fs	coding	Pathogenic
2	29071341	T	TG	C29071342G	PCARE	NM_001029883.3(PCARE):c.2920_2921insC:p.Glu974fs	coding	Pathogenic
2	29071493	GTCCAGGGCTGGCT	G	A29071497T	PCARE	NM_001029883.3(PCARE):c.2756_2768del:p.Lys919fs	coding	Pathogenic
2	29071840	GA	G	A29071841G	PCARE	NM_001029883.3(PCARE):c.2421del:p.Leu808fs	coding	Pathogenic
2	29071881	A	AT	G29071886T	PCARE	NM_001029883.3(PCARE):c.2380dup:p.Met794fs	coding	Pathogenic/Likely_pathogenic
2	29072033	ACT	A	T29072037C	PCARE	NM_001029883.3(PCARE):c.2225_2226AG[1]:p.Leu744fs	coding	Pathogenic
2	29072456	ACT	A	C29072459G	PCARE	NM_001029883.3(PCARE):c.1802_1803AG[1]:p.His603fs	coding	Pathogenic
2	29072472	TCTGA	T	A29072476G	PCARE	NM_001029883.3(PCARE):c.1786_1789del:p.Glu597fs	coding	Pathogenic
2	29072533	TTGGGGGGACCACTGTCCTCC	T	T29072534C	PCARE	NM_001029883.3(PCARE):c.1709_1728del:p.Gly570fs	coding	Pathogenic
2	29072716	A	AT	G29072719T	PCARE	NM_001029883.3(PCARE):c.1545dup:p.Ser516fs	coding	Pathogenic
2	29072720	TG	T	G29072722C	PCARE	NM_001029883.3(PCARE):c.1541del:p.Pro514fs	coding	Pathogenic
2	29072736	GT	G	T29072742C	PCARE	NM_001029883.3(PCARE):c.1525del:p.Thr509fs	coding	Pathogenic
2	29072884	CA	C	A29072887G	PCARE	NM_001029883.3(PCARE):c.1377del:p.Phe459fs	coding	Pathogenic
2	29073032	CT	C	T29073033G	PCARE	NM_001029883.3(PCARE):c.1229del:p.Gln410fs	coding	Pathogenic
2	29073220	CAG	C	A29073223C	PCARE	NM_001029883.3(PCARE):c.1040_1041del:p.Cys346_Ser347insTer	coding	Pathogenic
2	29073314	AT	A	T29073316C	PCARE	NM_001029883.3(PCARE):c.947del:p.Asn316fs	coding	Pathogenic
2	29073484	GCT	G	C29073489T	PCARE	NM_001029883.3(PCARE):c.772_773AG[2]:p.Glu259fs	coding	Pathogenic
2	29073783	C	CT	A29073784T	PCARE	NM_001029883.3(PCARE):c.478_479insA:p.Cys160Ter	coding	Pathogenic
2	29193159	C	CATTG	C29193164A	ALK	NM_004304.5(ALK):c.*61_*64dup	noncoding	Benign
2	29193781	GCTC	G	T29193789C	ALK	NM_004304.5(ALK):c.4297_4299GAG[2]:p.Glu1435del	coding	Benign/Likely_benign
2	29383877	CAG	C	A29383880G	ALK	NM_004304.5(ALK):c.1155-20_1155-19del	noncoding	Benign
2	31342194	CT	C	T31342195G	XDH	NM_000379.4(XDH):c.3507del:p.Gly1170fs	coding	Pathogenic
2	31349616	T	TG	T31349621G	XDH	NM_000379.4(XDH):c.2969+66dup	noncoding	Benign
2	31364221	TG	T	G31364222T	XDH	NM_000379.4(XDH):c.2567del:p.Thr856fs	coding	Pathogenic
2	31366917	CT	C	T31366918G	XDH	NM_000379.4(XDH):c.2274del:p.Glu760fs	coding	Pathogenic
2	31403104	G	GC	T31403111C	XDH	NM_000379.4(XDH):c.140dup:p.Cys48fs	coding	Pathogenic
2	31526207	AT	A	T31526208G	SRD5A2	NM_000348.4(SRD5A2):c.753del:p.Phe252fs	coding	Pathogenic
2	31526231	TG	T	G31526235T	SRD5A2	NM_000348.4(SRD5A2):c.729del:p.Lys244fs	coding	Pathogenic
2	31529348	GA	G	A31529353T	SRD5A2	NM_000348.4(SRD5A2):c.656del:p.Phe219fs	coding	Pathogenic
2	31531447	CATT	C	A31531448C	SRD5A2	NM_000348.4(SRD5A2):c.468_470del:p.Met157del	coding	Pathogenic
2	31580682	GA	G	A31580683G	SRD5A2	NM_000348.4(SRD5A2):c.218del:p.Leu73fs	coding	Pathogenic
2	31580810	A	AG	C31580814G	SRD5A2	NM_000348.4(SRD5A2):c.90dup:p.Ser31fs	coding	Benign
2	32063718	CGGCGGGCACACGGGGGTCTGTGGCCCCCGCCGTAGCAGTGGCTGCCGCCGTCGCTTGGTTCCCGTCGGTCTGCGGGAGGCGGGTTATGGCGGCGGCGGCAGTGAGAGCTGTGAATGAATTCTCCGGGTGGACGAGGGAAGAAGAAAGGCTCCGGCGGCGCCAGCAACCCGGTGCCTCCCAGGCCTCCGCCCCCTTGCCTGGCCCCCGCCCCTCCCGCCGCCGGGCCGGCCCCTCCGCCCGAGTCGCCGCATAAGCGGAACCTGTACTATTTCTCCTACCCGCTGTTTGTAGGCTTCGCGCTGCTGCGTTTGGTCGCCTTCCACCTGGGGCTCCTCTTCGTGTGGCTCTGCCAGCGCTTCTCCCGCGCCCTCATGGCAGCCAAGAGGAGCTCCGGGGCCGCGCCAGCACCTGCCTCGGCCTCGGCCCCGGCGCCGGTGCCGGGCGGCGAGGCCGAGCGCGTCCGAGTCTTCCACAAACAGGCCTTCGAGTACATCTCCATTGCCCTGCGCATCGATGAGGATGAGAAAGGTAACTAGGGGGCTGGGGGAGGGGGCGGCGGCGCCGGGAAGAAGGCGGTGGGGTCGCCGGGGGAGGGCAACACCTGCGTCCCTTTTCTGCGGGAGGGGACGGTGCACCCCCGGAATTGATATGCCCCGGGAGACTGCTTTCCCGTAGGTCGGAGCCTCATCTTCTAGTATTCTTAAAACCTCTCCCCTTTCAGGGCACTGTAGCTGTCGACTTTGTTTCAGACACCAGCCTTCCCCCACACTTCTGCATGACCCAGGTCACTATGAGACACCCAGACGTGTTGATGACAGTGACATTTGTCCTAGAGTGACCACACTGATCCTTTCTAGCACTGTGAAGAGTGTGCAGCTTCCTCTGAACCAAGGTTTCCAAAAGGTTTTGATATTGAAGAAGCAGTGCCGCCTTACTGGCTTTTAATGAAAGCAGAGTATTGTAGTGTCAGAAAAAAAGAACAAATGGTGACAATTTTGAAAGAAATAGCTGCATATGACTGCAGTTGAATTTGCATCATTTTAATCAAGATAATCATTTTATCAGTACAACGATTCCTGAATACTTTTTCAATGAAGTTATATTTAGCATAAAACTTTTCCCCCTGTTGCTTTGATTTTAATTAAAACAGTATTCCAAAGTAGCCTTTAATTTCCAAGTTGAAATGTTTGATGAATGGATTGCGTAAACTTAAACATACCACTTTACAGTAAAACCTAAAACAACTATGTATGTTTCTGAATGAAAGCAAGGATACTACATCTTTCGGGTTTCTTTTAAGCTAACTTTTTTTTTTTTTTGAGACGGAATCTCGCCCTGTCGCCCAAGCTGGAGTGCAATGGTGCAGTCTCGGCTCACTGCAACCTCCGACTCCCTGGTTCCAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCACGCACCACCACGCCTGGCTAATTTTTGTATTTTTAGTAGAGTAGGGATTTCACCATGTTGGCCAGGATGGTCTCCATCTCCTGACCTCGTGATCGGGTCGCCTCGGCCTCCCAAAGTGCTGGTAATACAGGCATGAGCCACCGCGCCTGGCCTTAAGCTAACATTTTTTATTATATGTGCCAGGCATTGTGCTATTAGCTTTGCATGTGTTATCTTTTTTCTTTTTAAAAAAAATAGCAACCATCCCAGACCATGAAAAGTGTTATTTAATCCTCACAATAACTTTGTGAGATGAAGGTATTATTGGTATCAGCATTTTAGAGATGAAGAAAATGAGGCCCAAAAGATAAAGGAGGTTATTCCAAACCTGTGCTAATAATGAAATTTCTTTTATGGAAAATAAGTGAAATTAGGAGAAGTCTAACTTTTACAATTCTCCCCTTTTATCCTTACTTCCAGTATGCTGAGATCTTGCTTCTCCCTCTGCCAAAAACACCCACTTTTCTACCACACCTCAATTAGATACTCACTTGCATTGTCCATTAGTGAAAACAGAAACAATCTGCACTTCATTCATAGTGTCTGTCTCTACTGCCAACTCCAAAAACTGTTCTAGAATTTCAATCTTGTTGAAACCTGTTTCCTTTGTGGGGCCTGGGAGTGGGAAGTGGGATATAAGGAAAGAGGCAGTTATTCATTGTTTTGGACAGTAAGGAAAGAGTGACGGTTAAGAGAGGTCAAGGAGGGTGTTAACATTTAAGAATACTATGTGTTTGTAGAAGGAAATTTTTTGTTAACTGCTCCATTCTTTTTTTTTTTTTTTTTTGAGATGGAGTCTCCCTGTGTCACCCAGACTGGA	C	G32063720T	SPAST	NM_014946.4(SPAST):c.-112_415+1779del	noncoding	Pathogenic
2	32063836	ATT	A	T32063837C	SPAST	NM_014946.3(SPAST):c.6_7del:p.Pro4fs	coding	Pathogenic
2	32063857	A	AG	A32063859G	SPAST	NM_014946.4(SPAST):c.27dup:p.Lys10fs	coding	Pathogenic
2	32063919	G	GC	G32063925C	SPAST	NM_014946.4(SPAST):c.93dup:p.Ala32fs	coding	Pathogenic
2	32063996	CCCGCTGTTTG	C	C32063997T	SPAST	NM_014946.3(SPAST):c.166_175del:p.Tyr55_Pro56insTer	coding	Pathogenic
2	32064096	G	GC	A32064099C	SPAST	NM_014946.4(SPAST):c.267dup:p.Lys90fs	coding	Pathogenic
2	32064116	CG	C	G32064117C	SPAST	NM_014946.3(SPAST):c.286del:p.Ala96fs	coding	Pathogenic
2	32064154	TGCCGGGCGGCGAG	T	G32064159A	SPAST	NM_014946.3(SPAST):c.328_340del:p.Gly110fs	coding	Pathogenic
2	32064174	C	CGCGTCCGAGT	C32064185G	SPAST	NM_014946.3(SPAST):c.344_353dup:p.Phe119fs	coding	Pathogenic
2	32064221	CC	GGT	C32064221G	SPAST	NM_199436.1(SPAST):c.390_391delinsGGT:p.Leu131fs	coding	Pathogenic
2	32064240	GA	G	A32064241G	SPAST	NM_014946.3(SPAST):c.410del:p.Glu137fs	coding	Pathogenic
2	32087497	CAGAA	C	A32087498G	SPAST	NM_014946.3(SPAST):c.422_425del:p.Gln141fs	coding	Pathogenic
2	32087526	G	GA	G32087530A	SPAST	NM_014946.3(SPAST):c.453dup:p.Gly152fs	coding	Pathogenic
2	32087530	GGTATT	G	T32087532A	SPAST	NM_014946.4(SPAST):c.456_460del:p.Ile153fs	coding	Pathogenic
2	32087539	GA	G	A32087541C	SPAST	NM_199436.1(SPAST):c.465del:p.Glu155fs	coding	Pathogenic
2	32087545	GA	G	A32087550G	SPAST	NM_014946.4(SPAST):c.474del:p.Gly159fs	coding	Pathogenic
2	32087545	G	GA	G32087551A	SPAST	NM_014946.4(SPAST):c.474dup:p.Gly159fs	coding	Pathogenic
2	32089528	AGT	A	T32089532A	SPAST	NM_014946.4(SPAST):c.511_512TG[1]:p.Cys171_Glu172delinsTer	coding	Pathogenic
2	32089539	GC	G	C32089540T	SPAST	NM_014946.4(SPAST):c.521del:p.Ala174fs	coding	Pathogenic
2	32089579	TG	T	G32089581C	SPAST	NM_014946.3(SPAST):c.562del:p.Ala188fs	coding	Pathogenic
2	32089588	AC	A	C32089590G	SPAST	NM_014946.3(SPAST):c.571del:p.Arg191fs	coding	Pathogenic
2	32114649	G	GTTCCAAAAAGAAAAGACCCCTTA	A32114673T	SPAST	NM_014946.4(SPAST):c.695_717dup:p.Thr240delinsPheGlnLysGluLysThrProTer	coding	Pathogenic
2	32114651	TC	T	C32114653A	SPAST	NM_014946.3(SPAST):c.698del:p.Pro233fs	coding	Pathogenic
2	32114653	C	CA	G32114659A	SPAST	NM_014946.4(SPAST):c.703dup:p.Arg235fs	coding	Pathogenic
2	32114672	AAC	A	A32114679T	SPAST	NM_199436.1(SPAST):c.622_623AC[3]:p.His209_Thr210insTer	coding	Pathogenic
2	32114737	C	CA	G32114739A	SPAST	NM_014946.4(SPAST):c.783dup:p.Gly262fs	coding	Pathogenic
2	32114793	CAG	C	A32114794G	SPAST	NM_014946.4(SPAST):c.839_840del:p.Gln280fs	coding	Pathogenic
2	32114793	C	CA	G32114795A	SPAST	NM_014946.3(SPAST):c.839dup:p.Ser282fs	coding	Pathogenic
2	32114820	CAT	C	T32114822A	SPAST	NM_014946.3(SPAST):c.867_868del:p.His289fs	coding	Pathogenic
2	32115710	G	GA	C32115715A	SPAST	NM_014946.3(SPAST):c.883dup:p.Thr295fs	coding	Pathogenic
2	32115730	A	ATT	A32115731T	SPAST	NM_014946.4(SPAST):c.899_900insTT:p.Lys300fs	coding	Pathogenic
2	32115753	ACTCGT	A	C32115754A	SPAST	NM_014946.4(SPAST):c.923_927del:p.Thr308fs	coding	Pathogenic
2	32115755	TC	T	C32115756G	SPAST	NM_014946.3(SPAST):c.925del:p.Arg309fs	coding	Pathogenic
2	32115799	AC	A	C32115801T	SPAST	NM_014946.4(SPAST):c.970del:p.Ala325fs	coding	Pathogenic
2	32115805	C	CT	A32115807T	SPAST	NM_014946.4(SPAST):c.975dup:p.Asn326Ter	coding	Pathogenic
2	32115806	T	TA	C32115809A	SPAST	NM_014946.4(SPAST):c.977dup:p.Asn326fs	coding	Pathogenic
2	32116129	GTTAAA	G	A32116132T	SPAST	NM_014946.3(SPAST):c.1018_1022del:p.Val339_Lys340insTer	coding	Pathogenic
2	32116138	G	GATGAT	A32116146G	SPAST	NM_014946.3(SPAST):c.1027_1031dup:p.Ile344fs	coding	Pathogenic
2	32116168	CA	C	A32116170G	SPAST	NM_014946.3(SPAST):c.1056del:p.Ala353fs	coding	Pathogenic
2	32116204	AGG	A	G32116205C	SPAST	NM_014946.3(SPAST):c.1091_1092del:p.Arg364fs	coding	Pathogenic
2	32126965	AG	A	G32126966C	SPAST	NM_014946.3(SPAST):c.1117del:p.Ala373fs	coding	Pathogenic
2	32127015	CAA	C	A32127016T	SPAST	NM_014946.3(SPAST):c.1167_1168del:p.Met390fs	coding	Pathogenic
2	32128406	AG	A	G32128408C	SPAST	NM_014946.3(SPAST):c.1174-1del	noncoding	Pathogenic
2	32128413	AG	A	G32128414C	SPAST	NM_014946.4(SPAST):c.1180del:p.Ala394fs	coding	Pathogenic
2	32128436	CA	C	A32128438C	SPAST	NM_014946.4(SPAST):c.1204del:p.Thr402fs	coding	Pathogenic
2	32128439	CCTT	C	C32128443T	SPAST	NM_014946.4(SPAST):c.1206CTT[1]:p.Phe404del	coding	Pathogenic/Likely_pathogenic
2	32128440	CTTCT	C	C32128443A	SPAST	NM_199436.1(SPAST):c.1113_1116del:p.Phe371fs	coding	Pathogenic/Likely_pathogenic
2	32128445	TTAATA	T	T32128449G	SPAST	NM_014946.3(SPAST):c.1215_1219del:p.Asn405fs	coding	Pathogenic
2	32128457	C	CT	G32128459T	SPAST	NM_014946.3(SPAST):c.1224dup:p.Ala409fs	coding	Pathogenic
2	32128478	AC	A	C32128479G	SPAST	NM_199436.1(SPAST):c.1149del:p.Lys382_Tyr383insTer	coding	Pathogenic
2	32136567	GAGA	G	A32136570G	SPAST	NM_014946.3(SPAST):c.1253_1255del:p.Glu418del	coding	Pathogenic
2	32136577	GAA	G	A32136579T	SPAST	NM_014946.4(SPAST):c.1262_1263del:p.Lys421fs	coding	Pathogenic
2	32136590	GCT	G	C32136593T	SPAST	NM_014946.4(SPAST):c.1276_1277del:p.Leu426fs	coding	Pathogenic
2	32136600	C	CTG	G32136605T	SPAST	NM_199436.1(SPAST):c.1188_1189TG[3]:p.Ala398fs	coding	Pathogenic
2	32136844	TTAATTAAAGTCTTATACTTGTATTTCCTC	T	A32136847G	SPAST	NM_014946.3(SPAST):c.1322-30_1322-2del	noncoding	Pathogenic
2	32136891	CTT	C	T32136894G	SPAST	NM_014946.4(SPAST):c.1339_1340del:p.Leu447fs	coding	Pathogenic
2	32136911	A	AGG	A32136916G	SPAST	NM_014946.3(SPAST):c.1359_1360dup:p.Glu454fs	coding	Pathogenic
2	32136915	G	GA	G32136917A	SPAST	NM_014946.3(SPAST):c.1361dup:p.His455fs	coding	Pathogenic
2	32136922	A	AT	G32136924T	SPAST	NM_014946.3(SPAST):c.1368dup:p.Ala457fs	coding	Pathogenic
2	32136945	GA	G	A32136947T	SPAST	NM_014946.3(SPAST):c.1392del:p.Glu464fs	coding	Pathogenic
2	32136947	AT	A	T32136950C	SPAST	NM_014946.3(SPAST):c.1395del:p.Phe465_Leu466insTer	coding	Pathogenic
2	32136959	AT	A	T32136962G	SPAST	NM_014946.4(SPAST):c.1407del:p.Phe469fs	coding	Pathogenic
2	32136968	TGTAA	T	A32136971G	SPAST	NM_014946.3(SPAST):c.1413+3_1413+6del	coding	Pathogenic/Likely_pathogenic
2	32136969	G	GT	A32136971T	SPAST	NM_014946.3(SPAST):c.1413+2dup	noncoding	Pathogenic
2	32137129	CAG	C	A32137132T	SPAST	NM_014946.4(SPAST):c.1437_1438del:p.Arg479fs	coding	Pathogenic/Likely_pathogenic
2	32137137	T	TA	T32137138A	SPAST	NM_014946.3(SPAST):c.1442_1443insA:p.Val482fs	coding	Pathogenic
2	32137147	TGCAACTAATA	T	C32137149G	SPAST	NM_014946.4(SPAST):c.1454_1463del:p.Ala485fs	coding	Pathogenic
2	32137152	C	CTA	A32137155T	SPAST	NM_014946.3(SPAST):c.1458_1459dup:p.Asn487fs	coding	Pathogenic
2	32137163	CAA	C	A32137164G	SPAST	NM_014946.3(SPAST):c.1469_1470del:p.Gln490fs	coding	Pathogenic
2	32137186	CAGGT	C	T32137190G	SPAST	NM_014946.3(SPAST):c.1493+2_1493+5del	coding	Pathogenic
2	32141890	A	AT	A32141902T	SPAST	NM_014946.3(SPAST):c.1494-3dup	noncoding	Benign
2	32141920	GTA	G	A32141924G	SPAST	NM_014946.4(SPAST):c.1514_1515del:p.Tyr505fs	coding	Pathogenic
2	32143372	CAAGG	C	G32143376T	SPAST	NM_014946.3(SPAST):c.1577_1580del:p.Gly526fs	coding	Pathogenic
2	32143380	TC	T	C32143382A	SPAST	NM_014946.3(SPAST):c.1583del:p.Pro528fs	coding	Pathogenic
2	32143399	CT	C	T32143400A	SPAST	NM_014946.3(SPAST):c.1601del:p.Leu534fs	coding	Pathogenic
2	32147227	CAGAACAGGTGA	C	C32147232T	SPAST	NM_014946.4(SPAST):c.1702_1712del:p.Gln568fs	coding	Pathogenic
2	32154383	AT	A	T32154385C	SPAST	NM_014946.4(SPAST):c.1740del:p.Arg581fs	coding	Pathogenic
2	32156658	A	AAGG	A32156661G	SPAST	NM_014946.3(SPAST):c.*2164_*2165insGAG	noncoding	Benign
2	37231668	CA	C	A37231669G	NDUFAF7	NM_144736.5(NDUFAF7):c.-37del	noncoding	Benign
2	37231669	AG	A	G37231670C	NDUFAF7	NM_144736.5(NDUFAF7):c.-36del	noncoding	Benign
2	37242700	AGG	A	G37242705A	NDUFAF7	NM_144736.5(NDUFAF7):c.681+12_681+13del	noncoding	Benign
2	38070511	C	CA	T38070519A	CYP1B1	NM_000104.3(CYP1B1):c.*210dup	noncoding	Benign
2	38070812	CTTGGGT	C	G38070815A	CYP1B1	NM_000104.3(CYP1B1):c.1536_1541del:p.Pro513_Lys514del	coding	Pathogenic
2	38071008	TC	T	C38071010T	CYP1B1	NM_000104.3(CYP1B1):c.1345del:p.Asp449fs	coding	Pathogenic
2	38071144	T	TGGTGGCATGA	A38071157T	CYP1B1	NM_000104.3(CYP1B1):c.1200_1209dup:p.Thr404fs	coding	Pathogenic
2	38071277	TTCTGCCTGCACTC	T	T38071278G	CYP1B1	NM_000104.3(CYP1B1):c.1064_1076del:p.Arg355fs	coding	Pathogenic
2	38071278	TCTGCCTGCACTCG	T	C38071279A	CYP1B1	NM_000104.3(CYP1B1):c.1063_1075del:p.Arg355fs	coding	Pathogenic
2	38074520	C	CG	C38074527G	CYP1B1	NM_000104.3(CYP1B1):c.868dup:p.Arg290fs	coding	Pathogenic
2	38074558	CA	C	A38074560G	CYP1B1	NM_000104.3(CYP1B1):c.830del:p.Phe276_Leu277insTer	coding	Pathogenic
2	38074853	GC	G	C38074855A	CYP1B1	NM_000104.3(CYP1B1):c.535del:p.Ala179fs	coding	Pathogenic
2	38075874	A	AG	C38075877G	CYP1B1	NM_000104.3(CYP1B1):c.-97dup	noncoding	Benign
2	38989556	TA	T	A38989563T	SOS1	NM_005633.3(SOS1):c.3347-243del	noncoding	Benign
2	38995220	T	TG	A38995223G	SOS1	NM_005633.3(SOS1):c.3248dup:p.Arg1084fs	coding	Pathogenic
2	38997474	G	GT	C38997482T	SOS1	NM_005633.3(SOS1):c.2792-56dup	noncoding	Benign
2	39007201	TA	T	A39007210G	SOS1	NM_005633.3(SOS1):c.2511-9del	noncoding	Benign
2	39007490	G	GGA	G39007494A	SOS1	NM_005633.3(SOS1):c.2511-299_2511-298dup	noncoding	Benign
2	39013443	TA	T	A39013454C	SOS1	NM_005633.3(SOS1):c.2167+16del	noncoding	Benign/Likely_benign
2	39013443	T	TA	C39013455A	SOS1	NM_005633.3(SOS1):c.2167+6dup	noncoding	Benign
2	39023127	CC	TT	C39023127T	SOS1	NM_005633.3(SOS1):c.1300_1301delinsAA:p.Gly434Lys	coding	Pathogenic
2	39058410	TAAAC	T	C39058414A	SOS1	NM_005633.3(SOS1):c.345+259_345+262del	noncoding	Benign
2	39058659	T	TAG	T39058662A	SOS1	NM_005633.3(SOS1):c.345+12_345+13dup	noncoding	Benign/Likely_benign
2	42770143	C	CA	G42770145A	HAAO	NM_012205.3(HAAO):c.483dup:p.Asp162Ter	coding	Pathogenic
2	43776896	T	TA	G43776897A	DYNC2LI1	NM_016008.4(DYNC2LI1):c.123_124insA:p.Gly42fs	coding	Pathogenic
2	43794553	CA	C	A43794556G	DYNC2LI1	NM_016008.4(DYNC2LI1):c.420del:p.Lys140_Val141insTer	coding	Pathogenic
2	43800829	AT	A	T43800832G	DYNC2LI1	NM_016008.4(DYNC2LI1):c.655-9del	noncoding	Pathogenic
2	43824358	AT	A	T43824360C	ABCG5	NM_022436.3(ABCG5):c.978del:p.Glu326fs	coding	Pathogenic/Likely_pathogenic
2	43844515	GG	C	G43844515C	ABCG8	NM_022437.3(ABCG8):c.72_73delinsC:p.Gln24fs	coding	Pathogenic
2	43851805	GC	G	C43851808A	ABCG8	NM_022437.3(ABCG8):c.547del:p.Gln183fs	coding	Pathogenic
2	43852436	G	GGGGTGAGCGCA	A43852450G	ABCG8	NM_022437.3(ABCG8):c.647_657dup:p.Arg220fs	coding	Pathogenic
2	43874398	A	AC	T43874400C	ABCG8	NM_022437.3(ABCG8):c.1412-8dup	noncoding	Benign
2	43874438	AC	A	C43874439T	ABCG8	NM_022437.3(ABCG8):c.1444del:p.Leu482fs	coding	Pathogenic
2	43889850	T	TA	G43889852A	LRPPRC	NM_133259.4(LRPPRC):c.4011dup:p.Lys1338Ter	coding	Pathogenic
2	43899244	AC	A	C43899246T	LRPPRC	NM_133259.4(LRPPRC):c.3799del:p.Val1267fs	coding	Pathogenic
2	43918025	C	CT	G43918034T	LRPPRC	NM_133259.4(LRPPRC):c.3147dup:p.Gly1050fs	coding	Pathogenic
2	43934197	ATCT	A	C43934202G	LRPPRC	NM_133259.4(LRPPRC):c.2723_2725AGA[1]:p.Lys909del	coding	Pathogenic
2	43934785	TACC	T	C43934787G	LRPPRC	NM_133259.4(LRPPRC):c.2595_2597del:p.Val866del	coding	Pathogenic
2	43948124	TAATC	T	C43948128T	LRPPRC	NM_133259.4(LRPPRC):c.1914_1917del:p.Ile639fs	coding	Pathogenic
2	43948173	GTAGA	G	G43948176T	LRPPRC	NM_133259.4(LRPPRC):c.1865_1868del:p.Ile622fs	coding	Pathogenic/Likely_pathogenic
2	43949613	CGA	C	A43949615G	LRPPRC	NM_133259.4(LRPPRC):c.1722_1723del:p.Gly576fs	coding	Pathogenic/Likely_pathogenic
2	43957384	CC	AAA	C43957384A	LRPPRC	NM_133259.4(LRPPRC):c.1649_1649+1delinsTTT	coding	Pathogenic
2	43973708	GC	G	C43973710A	LRPPRC	NM_133259.4(LRPPRC):c.1267del:p.Ala423fs	coding	Pathogenic
2	43982249	G	GT	A43982251T	LRPPRC	NM_133259.4(LRPPRC):c.334dup:p.Thr112fs	coding	Pathogenic
2	44218542	GTTTTA	G	T44218551C	PPM1B	NM_002706.6(PPM1B):c.1134+14_1134+18del	noncoding	Benign
2	44275695	TC	T	C44275698A	SLC3A1	NM_000341.4(SLC3A1):c.163del:p.Gln55fs	coding	Pathogenic
2	44280876	TG	T	G44280877C	SLC3A1	NM_000341.4(SLC3A1):c.592del:p.Ala198fs	coding	Pathogenic
2	44286044	GGAAACTCCAGTTGGCACTTTGAC	G	A44286048G	SLC3A1	NM_000341.4(SLC3A1):c.782_804del:p.Asn261fs	coding	Pathogenic
2	44301059	A	AATGCACGACATTGTCC	G44301076A	SLC3A1	NM_000341.4(SLC3A1):c.1069_1084dup:p.Arg362fs	coding	Pathogenic
2	44301128	GT	G	T44301130G	SLC3A1	NM_000341.4(SLC3A1):c.1136+3del	noncoding	Benign/Likely_benign
2	44312617	CG	C	G44312618C	SLC3A1	NM_000341.4(SLC3A1):c.1365del:p.Arg456fs	coding	Pathogenic
2	44313933	CCA	C	A44313937T	SLC3A1	NM_000341.4(SLC3A1):c.1601_1602AC[1]:p.Thr535fs	coding	Pathogenic
2	44320329	CAA	C	A44320330G	SLC3A1	NM_000341.4(SLC3A1):c.1749_1750del:p.Glu585fs	coding	Pathogenic
2	44320600	C	CT	A44320602T	SLC3A1	NM_000341.4(SLC3A1):c.2020dup:p.Tyr674fs	coding	Pathogenic
2	44323364	AG	A	G44323366A	PREPL	NM_001171603.1(PREPL):c.1793del:p.Pro598fs	coding	Pathogenic
2	44323368	A	AGT	A44323373G	PREPL	NM_001171613.2(PREPL):c.1521_1522dup:p.Leu508fs	coding	Pathogenic
2	44323413	TA	T	A44323421G	PREPL	NM_001171603.1(PREPL):c.1747-3del	noncoding	Benign
2	44332526	TCAAA	T	A44332529G	PREPL	NM_001171603.1(PREPL):c.1282_1285del:p.Phe428fs	coding	Pathogenic
2	44332563	A	AT	G44332568T	PREPL	NM_001171603.1(PREPL):c.1248dup:p.Tyr417fs	coding	Pathogenic/Likely_pathogenic
2	44339161	GTTCTCCAACATTAGTGAGAATGTATAATTCATCATCTCTGTGTTCAACATAGTAAAGGACCCCATGTATTCGCT	TAAAA	G44339161T	PREPL	NM_001171603.1(PREPL):c.881_955delinsTTTTA:p.Lys294fs	coding	Pathogenic
2	44339308	TA	T	A44339310T	PREPL	NM_001171603.1(PREPL):c.807del:p.Ile269_Met270insTer	coding	Pathogenic
2	44339365	TAG	T	G44339381C	PREPL	NM_001171613.2(PREPL):c.486-18CT[7]	noncoding	Benign
2	44342450	CGTTT	C	T44342454A	PREPL	NM_001171603.1(PREPL):c.715_718del:p.Lys239fs	coding	Pathogenic
2	44343926	TA	T	A44343930C	PREPL	NM_001171603.1(PREPL):c.434del:p.Leu145fs	coding	Pathogenic
2	44344564	TAAAC	T	C44344568A	PREPL	NM_001171603.1(PREPL):c.361_364del:p.Val121fs	coding	Pathogenic
2	44346267	CT	C	T44346269C	PREPL	NM_001171613.2(PREPL):c.75del:p.Val26fs	coding	Pathogenic
2	44346383	TG	T	G44346384A	PREPL	NM_001171613.2(PREPL):c.-42del	coding	Pathogenic
2	44942456	GC	G	C44942461G	SIX3	NM_005413.4(SIX3):c.357del:p.Ala121fs	coding	Pathogenic
2	44942499	TGC	T	G44942510C	SIX3	NM_005413.4(SIX3):c.396_397GC[5]:p.Ala136fs	coding	Pathogenic
2	44942543	GACCTCTACCAC	G	C44942545T	SIX3	NM_005413.4(SIX3):c.441_451del:p.Leu148fs	coding	Pathogenic
2	44942659	C	CGG	C44942662G	SIX3	NM_005413.4(SIX3):c.556_557dup:p.Pro187fs	coding	Pathogenic
2	44942799	ACCCCAGCAAG	A	C44942800A	SIX3	NM_005413.4(SIX3):c.696_705del:p.Asn232fs	coding	Pathogenic
2	46297561	C	CT	C46297572T	EPAS1	NM_001430.5(EPAS1):c.-341dup	noncoding	Benign
2	46297848	G	GC	A46297855C	EPAS1	NM_001430.5(EPAS1):c.-58dup	noncoding	Benign
2	46356142	C	CT	C46356143T	EPAS1	NM_001430.5(EPAS1):c.218-9_218-8insT	noncoding	Benign
2	46385187	GTT	G	T46385199G	EPAS1	NM_001430.5(EPAS1):c.*539_*540del	noncoding	Benign
2	46385361	C	CTGAG	T46385367G	EPAS1	NM_001430.5(EPAS1):c.*703_*706dup	noncoding	Benign
2	46616860	CGGCGAGCGCCGGCGGGTCGGGGCGCCAAGGCTCAGGGCTGCTTCGGCAATTCGCGGGGGTAGCTTGCACCTCGTGAGGCGAGACGCCGAGGGCGTCCAGCGGGGCTTACCTAACTCTCCCTCCCGCGGAAGGGAAGCGGGGAACTACTGCCTCCTACCATCAGGTACGACGGGCGGCCCAGGCCCACGCGCAGGCGCAGGGCTGTGGGGCGGAGACCCACGCCTAACAGCCAGTCGCAGAAAGGGAGGGGCGGGCAAAAGGGGCAGCGGCTTTCCAGGTTTGGGGTAGGCGGGAGTATGGGCTTAGAAGCCGGAAGTGGGTTGACGTAGCCCGGAAGGGGAATACTTCCAAGTTGTAGTGTTGTTGTTTTCAGCCTGCTGCTGCTGCTGCTGTTGCGGCTAGGGGAACCGTCGTGGGGAAGGATGGTGTGCGAAAAATGTGAGTTAAGGGGCCGCTTCTGCGGGAGGAGGAGGCTGGGAGAACCTAACTGAGCTCTCCCGGGAACTTTGCTTTCTCGTTGTTTTTTCTTCGCCCACAGGTCTCAGATTCTATCCGCTGTCTTTCTACCCTACCCTTTGACCATTTTTGCACCTCCCAACGACCATACAGTCCTATATATTTTGTACTCAGAATGGTCTCAGTTCTGCACCTCCTTGTCTATTTCTGTTGCCTTCCCCCAGCCCCAGATCTCATCAGCTCTCCTCCCATATAAAAATGTGCAGTTAAACCCCAACGACACCTTTCTGTCTTGGCAATTCTTGATCTTTCCTTTCTATTCATGTAAGAAGTATTGTTCTCCTGCCAAATGCTAGACACTAGAACCAAAGACTAAGGACTTTGCCTTATTCATTCTCATTAGTCATTATGCCAGGATATGGCTTAGAGTAAGCCCAGAAGATGCTTGAATTGAAAATCAACGTAAGTGCAAATTATTATTTCCCTAACTTAAAACCTTTAATAAATTCTCAGTGTGCAGAGAATAATTTGGGGATTCTATATTTGGAACCTGGCGTTCAGGACCCTCCACACTAAGGCCCCAACTTATTTTTCCAGCTTCATCTTCACTGAGGCTTATCCTCTTCACATTTTGACCAAACAAAATACTCTTTGTGCCCATGTGTACTCTAAGCTTTCTATGCCTTTCCTCAGAATGTGTCCTTTATCTAGTTTGCCTTCATCCTCTTTACTCCTTTTTGTTCACAGTCCTATTGCCACATATCCAAATCCTCTGTCTTGCCTTCTCCCCAAACTTTCTTTTCTTGGATTTCCTTAGCTAGGGTTATTTCTTCCTGCATGGAATTTCTTCTAGTACTTTAGCTGTCGATTATTAT	C	G46616861A	CRIPT	NM_014171.6(CRIPT):c.0_17-582del	noncoding	Pathogenic
2	46619669	CA	C	A46619676G	CRIPT	NM_014171.6(CRIPT):c.132del:p.Ala45fs	coding	Pathogenic
2	46619676	A	AGG	C46619678G	CRIPT	NM_014171.6(CRIPT):c.133_134insGG:p.Ala45fs	coding	Pathogenic
2	46623756	AT	A	T46623759C	CRIPT	NM_014171.6(CRIPT):c.138-5del	noncoding	Benign
2	46623764	AT	A	T46623767G	CRIPT	NM_014171.6(CRIPT):c.141del:p.Phe47fs	coding	Pathogenic
2	46907846	TAAGCCATC	T	C46907851A	MCFD2	NM_001171506.2(MCFD2):c.265_272del:p.Asp89fs	coding	Pathogenic
2	46907869	CA	C	A46907870T	MCFD2	NM_001171506.2(MCFD2):c.249del:p.Asp83fs	coding	Pathogenic
2	46909068	TG	T	G46909071A	MCFD2	NM_001171506.2(MCFD2):c.103del:p.Gln35fs	coding	Pathogenic
2	46915811	GCCCCCCCCC	G	C46915819G	MCFD2	NM_001171506.2(MCFD2):c.-198_-190del	coding	Benign
2	46950490	TTATC	T	T46950493A	TTC7A	NM_020458.4(TTC7A):c.315_318del:p.Asn104_Tyr105insTer	coding	Pathogenic
2	46978904	AG	A	G46978908T	TTC7A	NM_020458.4(TTC7A):c.764+1del	coding	Pathogenic
2	46994512	CAAGT	C	A46994517T	TTC7A	NM_020458.4(TTC7A):c.1001+3_1001+6del	coding	Pathogenic
2	46995150	A	AG	A46995153G	TTC7A	NM_020458.4(TTC7A):c.1018dup:p.Asp340fs	coding	Pathogenic
2	46995171	T	TC	T46995174C	TTC7A	NM_020458.4(TTC7A):c.1039dup:p.Leu347fs	coding	Pathogenic
2	47006038	A	AC	A47006040C	TTC7A	NM_020458.4(TTC7A):c.1183dup:p.Gln395fs	coding	Pathogenic
2	47021947	TG	T	G47021950T	TTC7A	NM_020458.4(TTC7A):c.1481del:p.Gly494fs	coding	Pathogenic
2	47029255	C	CG	C47029256G	TTC7A	NM_020458.4(TTC7A):c.1673_1674insG:p.Leu559fs	coding	Pathogenic
2	47073815	G	GC	A47073817C	TTC7A	NM_020458.4(TTC7A):c.2470dup:p.Gln824fs	coding	Pathogenic
2	47161625	TCA	T	C47161626G	CALM2	NM_001743.6(CALM2):c.421+96_421+97del	noncoding	Benign
2	47373967	TG	CA	T47373967C	EPCAM	NM_002354.2(EPCAM):c.344_345inv:p.Met115Thr	coding	Benign
2	47373996	A	AC	G47373997C	EPCAM	NM_002354.2(EPCAM):c.373_374insC:p.Arg125fs	coding	Pathogenic
2	47377020	T	TC	A47377022C	EPCAM	NM_002354.2(EPCAM):c.499dup:p.Gln167fs	coding	Pathogenic
2	47378929	GTAT	G	A47378934C	EPCAM	NM_002354.3(EPCAM):c.556-19_556-17del	noncoding	Benign
2	47379819	TG	T	G47379823A	EPCAM	NM_002354.2(EPCAM):c.712del:p.Glu238fs	coding	Pathogenic
2	47403201	C	CA	G47403203A	MSH2	NM_000251.2(MSH2):c.11dup:p.Pro5fs	coding	Pathogenic
2	47403202	AG	C	A47403202C	MSH2	NM_001258281.1(MSH2):c.-31+27_-31+28delinsC	coding	Pathogenic
2	47403210	GA	G	A47403211G	MSH2	NM_000251.2(MSH2):c.20del:p.Glu7fs	coding	Pathogenic
2	47403210	G	GA	G47403212A	MSH2	NM_000251.3(MSH2):c.20dup:p.Thr8fs	coding	Pathogenic
2	47403211	A	AG	A47403213G	MSH2	NM_000251.2(MSH2):c.21dup:p.Thr8fs	coding	Pathogenic
2	47403219	C	CA	G47403221A	MSH2	NM_000251.2(MSH2):c.29dup:p.Leu11fs	coding	Pathogenic
2	47403223	T	TG	A47403226G	MSH2	NM_000251.2(MSH2):c.34dup:p.Glu12fs	coding	Pathogenic
2	47403226	AGAGCGCGGCC	A	C47403230G	MSH2	NM_001258281.1(MSH2):c.-31+55_-31+64del	coding	Pathogenic
2	47403261	C	CA	G47403263A	MSH2	NM_000251.2(MSH2):c.71dup:p.Met26fs	coding	Pathogenic
2	47403264	G	GC	G47403265C	MSH2	NM_000251.2(MSH2):c.73_74insC:p.Gly25fs	coding	Pathogenic
2	47403265	GC	G	C47403266A	MSH2	NM_001258281.1(MSH2):c.-31+91del	coding	Pathogenic/Likely_pathogenic
2	47403271	CG	C	G47403273A	MSH2	NM_000251.2(MSH2):c.82del:p.Glu28fs	coding	Pathogenic
2	47403277	AGCCG	A	G47403278A	MSH2	NM_001258281.1(MSH2):c.-30-82_-30-79del	coding	Pathogenic
2	47403283	CCACCACAGTG	C	A47403285G	MSH2	NM_000251.2(MSH2):c.94_103del:p.Thr32fs	coding	Pathogenic
2	47403285	A	AC	A47403288C	MSH2	NM_000251.3(MSH2):c.96dup:p.Thr33fs	coding	Pathogenic
2	47403288	AC	A	C47403289A	MSH2	NM_000251.3(MSH2):c.98del:p.Thr33fs	coding	Pathogenic
2	47403292	T	TG	C47403294G	MSH2	NM_000251.3(MSH2):c.102dup:p.Arg35fs	coding	Pathogenic
2	47403297	CT	C	T47403301C	MSH2	NM_000251.2(MSH2):c.110del:p.Phe37fs	coding	Pathogenic
2	47403304	AC	A	C47403306G	MSH2	NM_001258281.1(MSH2):c.-30-54del	coding	Pathogenic
2	47403306	CG	C	G47403310C	MSH2	NM_000251.2(MSH2):c.119del:p.Gly40fs	coding	Pathogenic
2	47403314	C	CTTCT	A47403319T	MSH2	NM_001258281.1(MSH2):c.-30-45_-30-42dup	coding	Pathogenic
2	47403321	AC	G	A47403321G	MSH2	NM_000251.3(MSH2):c.130_131delinsG:p.Thr44fs	coding	Pathogenic
2	47403324	GCGCACGGCGAGGACGCGCTGCTGGCCGCC	G	C47403327G	MSH2	NM_000251.3(MSH2):c.136_164del:p.His46fs	coding	Pathogenic
2	47403331	GCGAGGACGCGCTGC	G	C47403332T	MSH2	NM_001258281.1(MSH2):c.-30-28_-30-15del	coding	Pathogenic
2	47403334	AG	A	G47403336A	MSH2	NM_000251.2(MSH2):c.145del:p.Asp49fs	coding	Pathogenic
2	47403335	GGA	G	G47403336C	MSH2	NM_000251.2(MSH2):c.145_146del:p.Asp49fs	coding	Pathogenic
2	47403343	T	TG	C47403345G	MSH2	NM_001258281.1(MSH2):c.-30-16dup	coding	Pathogenic
2	47403345	C	CG	T47403346G	MSH2	NM_000251.2(MSH2):c.154_155insG:p.Leu52fs	coding	Pathogenic
2	47403350	CG	C	G47403351C	MSH2	NM_001258281.1(MSH2):c.-30-9del	coding	Pathogenic
2	47403351	GC	G	C47403354G	MSH2	NM_000251.2(MSH2):c.163del:p.Arg55fs	coding	Pathogenic
2	47403354	CG	C	G47403357A	MSH2	NM_000251.2(MSH2):c.166del:p.Glu56fs	coding	Pathogenic
2	47403364	TC	AA	T47403364A	MSH2	NM_000251.3(MSH2):c.173_174delinsAA:p.Phe58Ter	coding	Pathogenic
2	47403364	T	TC	A47403366C	MSH2	NM_000251.3(MSH2):c.174dup:p.Lys59fs	coding	Pathogenic
2	47403372	CA	C	A47403373G	MSH2	NM_000251.2(MSH2):c.182del:p.Gln61fs	coding	Pathogenic
2	47403373	A	AGG	T47403379G	MSH2	NM_000251.2(MSH2):c.186_187dup:p.Val63fs	coding	Pathogenic
2	47403373	A	AG	T47403379G	MSH2	NM_000251.2(MSH2):c.187dup:p.Val63fs	coding	Pathogenic
2	47403373	AG	A	G47403378T	MSH2	NM_000251.2(MSH2):c.187del:p.Gly62_Val63insTer	coding	Pathogenic
2	47403380	GA	G	A47403381T	MSH2	NM_000251.3(MSH2):c.190del:p.Ile64fs	coding	Pathogenic
2	47403381	AT	A	T47403382C	MSH2	NM_000251.3(MSH2):c.191del:p.Ile64fs	coding	Pathogenic
2	47403382	T	TC	A47403384C	MSH2	NM_000251.2(MSH2):c.192dup:p.Lys65fs	coding	Pathogenic
2	47403384	A	ATC	A47403385T	MSH2	NM_000251.2(MSH2):c.193_194insTC:p.Lys65fs	coding	Pathogenic
2	47403391	TG	T	G47403395C	MSH2	NM_000251.3(MSH2):c.204del:p.Pro69fs	coding	Pathogenic
2	47403395	GC	G	C47403397G	MSH2	NM_000251.2(MSH2):c.206del:p.Pro69fs	coding	Pathogenic
2	47408384	C	CT	A47408398T	MSH2	NM_000251.3(MSH2):c.212-4dup	noncoding	Benign
2	47408384	CTTTTTTTTTTTTTAAGGAG	C	T47408385C	MSH2	NM_000251.3(MSH2):c.212-16_214del	noncoding	Pathogenic
2	47408396	TTAAGGAGCAAAGAATCTGCAGAGTGTTGTGCTTAGTAAAATGAATTTTGAATCTTTTGTAAAAGATCTTCTTCTGGTTCGTCAGTATAGAGTTGAAGTTTATAAGAATAGAGCTGGAAATAAGGCATCCAAGGAGAATGATTGGTATTTGGCATA	T	A47408402T	MSH2	NM_000251.3(MSH2):c.213_366+1del	noncoding	Pathogenic
2	47408399	AG	A	G47408401A	MSH2	NC_000002.12:g.47408401del	noncoding	Pathogenic
2	47408400	GGAGCAAAGAA	CAC	G47408400C	MSH2	NM_000251.2(MSH2):c.212-1_221delinsCAC	coding	Pathogenic
2	47408402	AGCAAAGAATCT	A	A47408406G	MSH2	NM_000251.2(MSH2):c.217_227del:p.Lys73fs	coding	Pathogenic
2	47408410	ATC	A	C47408412G	MSH2	NM_000251.2(MSH2):c.223_224del:p.Leu75fs	coding	Pathogenic
2	47408415	CAG	C	A47408418T	MSH2	NM_000251.3(MSH2):c.227_228AG[1]:p.Ser77fs	coding	Pathogenic
2	47408426	GCTTAGTAAAATGAATTTTGAAT	G	A47408430T	MSH2	NM_000251.3(MSH2):c.241_262del:p.Ser81fs	coding	Pathogenic
2	47408432	TAAAATGAATTTTGAATCTTTTGTAAAAGAT	CTGACAAGCGCCTATAGCACTCGAATAATTCTTCTCACCCTAACAGGTCAGCCTCGCTTCCCAGCCCTCACTAACATTAACGAAAACAACCCACCCACTAAACCCCATTAAACGCCTAACAATCGGAAGCCTATTTTGCAGGGTTTCTCCATCACCAACAGCATTCTCCCCACATCCACCCCCCAAATGACAATCCCACTTTACTTAAAACTCACAG	T47408432C	MSH2	NM_000251.2(MSH2):c.243_273delinsCTGACAAGCGCCTATAGCACTCGAATAATTCTTCTCACCCTAACAGGTCAGCCTCGCTTCCCAGCCCTCACTAACATTAACGAAAACAACCCACCCACTAAACCCCATTAAACGCCTAACAATCGGAAGCCTATTTTGCAGGGTTTCTCCATCACCAACAGCATTCTCCCCACATCCACCCCCCAAATGACAATCCCACTTTACTTAAAACTCACAG:p.Lys82_Asp91delinsTer	coding	Pathogenic
2	47408438	GA	G	A47408440T	MSH2	NM_000251.2(MSH2):c.251del:p.Asn84fs	coding	Pathogenic
2	47408440	A	AT	G47408445T	MSH2	NM_000251.2(MSH2):c.255dup:p.Glu86Ter	coding	Pathogenic
2	47408440	AT	A	T47408444G	MSH2	NM_000251.3(MSH2):c.255del:p.Phe85fs	coding	Pathogenic
2	47408443	TTG	T	T47408444A	MSH2	NM_000251.2(MSH2):c.255_256del:p.Phe85fs	coding	Pathogenic
2	47408449	C	CT	G47408454T	MSH2	NM_000251.2(MSH2):c.264dup:p.Val89fs	coding	Pathogenic
2	47408449	C	CTT	G47408454T	MSH2	NM_000251.3(MSH2):c.263_264dup:p.Val89fs	coding	Pathogenic
2	47408449	CTT	C	T47408452G	MSH2	NM_000251.2(MSH2):c.263_264del:p.Phe88fs	coding	Pathogenic
2	47408456	A	AAAAGATCTTCTTCTGGTTCGTC	G47408480A	MSH2	NM_000251.2(MSH2):c.269_290dup:p.Tyr98fs	coding	Pathogenic
2	47408461	ATCT	A	T47408468G	MSH2	NM_000251.2(MSH2):c.279_281delTCT	coding	Benign
2	47408466	CTT	C	T47408467C	MSH2	NM_000251.2(MSH2):c.278_279del:p.Leu93fs	coding	Pathogenic
2	47408477	TC	T	C47408478A	MSH2	NM_000251.2(MSH2):c.289del:p.Gln97fs	coding	Pathogenic
2	47408480	GTA	G	T47408483G	MSH2	NM_001258281.1(MSH2):c.94_95TA[1]:p.Tyr32_Arg33delinsTer	coding	Pathogenic
2	47408486	AG	A	G47408487T	MSH2	NM_000251.3(MSH2):c.298del:p.Val100fs	coding	Pathogenic
2	47408497	AT	A	T47408498A	MSH2	NM_000251.2(MSH2):c.309del:p.Val102_Tyr103insTer	coding	Pathogenic
2	47408509	CT	C	T47408510G	MSH2	NM_000251.3(MSH2):c.321del:p.Gly108fs	coding	Pathogenic
2	47408531	GA	G	A47408533T	MSH2	NM_000251.2(MSH2):c.344del:p.Asn115fs	coding	Pathogenic
2	47408533	ATGAT	A	A47408536G	MSH2	NM_000251.2(MSH2):c.347_350del:p.Asp116fs	coding	Pathogenic
2	47408536	ATTGGTAT	A	T47408541C	MSH2	NM_000251.2(MSH2):c.352_358del:p.Tyr118fs	coding	Pathogenic
2	47408540	G	GT	A47408542T	MSH2	NM_000251.2(MSH2):c.352dup:p.Tyr118fs	coding	Pathogenic
2	47408550	TA	T	A47408551T	MSH2	NM_000251.2(MSH2):c.362del:p.Tyr121fs	coding	Pathogenic
2	47408554	A	CGG	A47408554C	MSH2	NM_000251.2(MSH2):c.365delinsCGG:p.Lys122fs	coding	Pathogenic
2	47410092	AG	A	G47410094C	MSH2	NM_000251.3(MSH2):c.367del	noncoding	Pathogenic
2	47410094	GC	G	C47410095T	MSH2	NM_000251.2(MSH2):c.368del:p.Ala123fs	coding	Pathogenic
2	47410105	C	CA	T47410108A	MSH2	NM_000251.2(MSH2):c.380dup:p.Asn127fs	coding	Pathogenic
2	47410106	AAT	A	A47410107C	MSH2	NM_000251.2(MSH2):c.380_381del:p.Asn127fs	coding	Pathogenic
2	47410107	ATC	A	T47410114A	MSH2	NM_000251.3(MSH2):c.387_388del	coding	Pathogenic
2	47410114	TCA	T	C47410115G	MSH2	NM_000251.2(MSH2):c.388_389del:p.Gln130fs	coding	Pathogenic
2	47410125	AC	A	C47410126A	MSH2	NM_000251.2(MSH2):c.399del:p.Asp133fs	coding	Pathogenic
2	47410132	CT	C	T47410135G	MSH2	NM_000251.2(MSH2):c.408del:p.Phe136fs	coding	Pathogenic
2	47410141	CA	C	A47410143T	MSH2	NM_000251.2(MSH2):c.416del:p.Asn139fs	coding	Pathogenic
2	47410145	GAT	G	A47410148G	MSH2	NM_000251.3(MSH2):c.419_420AT[1]:p.Met141fs	coding	Pathogenic
2	47410146	A	AT	A47410148T	MSH2	NM_000251.2(MSH2):c.420dup:p.Met141fs	coding	Pathogenic
2	47410163	G	GGT	T47410168G	MSH2	NM_000251.2(MSH2):c.437_438GT[3]:p.Val148fs	coding	Pathogenic
2	47410169	GT	G	T47410170G	MSH2	NM_000251.2(MSH2):c.443del:p.Val148fs	coding	Pathogenic
2	47410177	TA	T	A47410181T	MSH2	NM_000251.2(MSH2):c.454del:p.Met152fs	coding	Pathogenic
2	47410177	T	TA	T47410182A	MSH2	NM_000251.2(MSH2):c.454dup:p.Met152fs	coding	Pathogenic
2	47410189	AG	A	G47410190T	MSH2	NM_000251.3(MSH2):c.463del:p.Val155fs	coding	Pathogenic
2	47410192	TG	A	T47410192A	MSH2	NM_000251.2(MSH2):c.465_466delinsA:p.Asp156fs	coding	Pathogenic
2	47410192	TG	T	G47410193A	MSH2	NM_000251.3(MSH2):c.466del:p.Asp156fs	coding	Pathogenic
2	47410201	GA	G	A47410202G	MSH2	NM_000251.2(MSH2):c.475del:p.Arg159fs	coding	Pathogenic
2	47410201	G	GA	G47410203A	MSH2	NM_000251.2(MSH2):c.475dup:p.Arg159fs	coding	Pathogenic
2	47410218	GGT	G	G47410219A	MSH2	NM_000251.3(MSH2):c.492_493del:p.Tyr165fs	coding	Pathogenic
2	47410230	CCATA	C	T47410233G	MSH2	NM_000251.2(MSH2):c.506_509del:p.Ile169fs	coding	Pathogenic
2	47410234	A	ACCTC	A47410236C	MSH2	NM_000251.3(MSH2):c.508_509insCTCC:p.Gln170fs	coding	Pathogenic
2	47410236	A	AG	A47410238G	MSH2	NM_000251.2(MSH2):c.510dup:p.Arg171fs	coding	Pathogenic
2	47410236	A	AGAGGAAACTAGGACTGTGTGAATTCCCTGATAATGATCAGTTCTCCAATCTTGAGGCTCTCCTCATCCAGATT	G47410311A	MSH2	NM_000251.3(MSH2):c.511_583dup:p.Gly195delinsGluGluThrArgThrValTer	coding	Pathogenic
2	47410238	AG	A	G47410240A	MSH2	NM_000251.2(MSH2):c.513del:p.Lys172fs	coding	Pathogenic
2	47410244	CT	C	T47410245A	MSH2	NM_000251.2(MSH2):c.518del:p.Leu173fs	coding	Pathogenic
2	47410250	CTG	C	T47410255A	MSH2	NM_000251.2(MSH2):c.528_529delTG	coding	Pathogenic
2	47410250	CTGTGTGAA	C	G47410252T	MSH2	NM_000251.2(MSH2):c.525_532del:p.Cys176fs	coding	Pathogenic
2	47410256	GAA	G	A47410257T	MSH2	NM_000251.2(MSH2):c.530_531del:p.Glu177fs	coding	Pathogenic
2	47410260	TCC	T	C47410262T	MSH2	NM_000251.2(MSH2):c.535_536del:p.Phe178_Pro179insTer	coding	Pathogenic
2	47410260	TC	T	C47410263T	MSH2	NM_000251.2(MSH2):c.536del:p.Pro179fs	coding	Pathogenic
2	47410276	GT	G	T47410278C	MSH2	NM_000251.2(MSH2):c.551del:p.Phe184fs	coding	Pathogenic
2	47410284	ATCTTGAGGC	A	T47410288C	MSH2	NM_000251.3(MSH2):c.561_569del:p.Glu188_Leu190del	coding	Pathogenic
2	47410289	GA	G	A47410290G	MSH2	NM_000251.2(MSH2):c.563del:p.Glu188fs	coding	Pathogenic
2	47410291	G	GGC	T47410294G	MSH2	NM_000251.2(MSH2):c.565_566dup:p.Leu191fs	coding	Pathogenic
2	47410294	TCTC	T	C47410298A	MSH2	NM_000251.2(MSH2):c.571_573delCTC	coding	Pathogenic
2	47410312	AC	A	C47410314A	MSH2	NM_000251.2(MSH2):c.587del:p.Pro196fs	coding	Pathogenic
2	47410317	A	AG	A47410320G	MSH2	NM_000251.2(MSH2):c.592dup:p.Glu198fs	coding	Pathogenic
2	47410337	G	GGAGA	C47410344G	MSH2	NM_000251.2(MSH2):c.611_612GA[5]:p.Thr206fs	coding	Pathogenic
2	47410342	G	GA	C47410344A	MSH2	NM_000251.2(MSH2):c.616dup:p.Thr206fs	coding	Pathogenic
2	47410354	CAT	C	A47410355G	MSH2	NM_000251.2(MSH2):c.628_629del:p.Met210fs	coding	Pathogenic
2	47410356	TG	T	G47410360A	MSH2	NM_000251.2(MSH2):c.633del:p.Lys212fs	coding	Pathogenic
2	47410360	G	GA	C47410364A	MSH2	NM_000251.3(MSH2):c.636dup:p.Leu213fs	coding	Pathogenic
2	47410364	CTG	C	T47410365A	MSH2	NM_000251.2(MSH2):c.638_639del:p.Leu213fs	coding	Pathogenic
2	47410366	GAGAC	G	A47410369G	MSH2	NM_000251.3(MSH2):c.643_646del:p.Arg214_Gln215insTer	coding	Pathogenic
2	47410368	GAC	G	C47410370G	MSH2	NM_000251.3(MSH2):c.643_644del:p.Gln215fs	coding	Pathogenic
2	47410369	AC	A	C47410370A	MSH2	NM_000251.2(MSH2):c.643del:p.Gln215fs	coding	Pathogenic
2	47410370	CA	C	A47410371G	MSH2	NM_000251.2(MSH2):c.644del:p.Gln215fs	coding	Pathogenic
2	47412403	TTTCAAAATAGATAA	T	A47412410G	MSH2	NM_000251.2(MSH2):c.646-4_655del	noncoding	Pathogenic
2	47412409	AATAG	A	G47412413A	MSH2	NM_000251.3(MSH2):c.646-1_648del	noncoding	Pathogenic
2	47412415	TAATTC	T	T47412418A	MSH2	NM_000251.2(MSH2):c.650_654del:p.Ile217fs	coding	Pathogenic
2	47412420	C	CA	G47412424A	MSH2	NM_000251.2(MSH2):c.655dup:p.Arg219fs	coding	Pathogenic
2	47412442	CAGAA	C	G47412448A	MSH2	NM_000251.2(MSH2):c.680_683delGAAA	coding	Pathogenic
2	47412443	AGAAA	TAAT	A47412443T	MSH2	NM_000251.2(MSH2):c.675_679delinsTAAT:p.Glu226fs	coding	Pathogenic
2	47412444	GA	G	A47412447G	MSH2	NM_000251.3(MSH2):c.679del:p.Arg227fs	coding	Pathogenic
2	47412446	AAG	A	G47412448A	MSH2	NM_000251.2(MSH2):c.680_681del:p.Arg227fs	coding	Pathogenic
2	47412448	GAA	G	A47412454G	MSH2	NM_001258281.1(MSH2):c.488_489del:p.Lys163fs	coding	Pathogenic
2	47412448	GA	G	A47412455G	MSH2	NM_000251.2(MSH2):c.687del:p.Ala230fs	coding	Pathogenic
2	47412448	G	GA	G47412456A	MSH2	NM_000251.2(MSH2):c.687dup:p.Ala230fs	coding	Pathogenic
2	47412455	A	AT	G47412456T	MSH2	NM_000251.2(MSH2):c.687_688insT:p.Ala230fs	coding	Pathogenic
2	47412458	TG	T	G47412459A	MSH2	NM_000251.2(MSH2):c.691del:p.Asp231fs	coding	Pathogenic
2	47412461	CTT	C	T47412464C	MSH2	NM_000251.2(MSH2):c.696_697del:p.Ser233fs	coding	Pathogenic
2	47412469	CAA	C	A47412472G	MSH2	NM_000251.2(MSH2):c.704_705del:p.Lys235fs	coding	Pathogenic
2	47412469	CA	C	A47412473G	MSH2	NM_000251.2(MSH2):c.705del:p.Asp236fs	coding	Pathogenic
2	47412475	ACATTTAT	A	T47412478G	MSH2	NM_000251.2(MSH2):c.710_716del:p.Ile237fs	coding	Pathogenic
2	47412476	CATTT	C	T47412479C	MSH2	NM_000251.2(MSH2):c.711_714del:p.Tyr238fs	coding	Pathogenic
2	47412485	GGACC	TTA	G47412485T	MSH2	NM_000251.2(MSH2):c.717_721delinsTTA:p.Gln239fs	coding	Pathogenic
2	47412487	AC	A	C47412489T	MSH2	NM_000251.3(MSH2):c.721del:p.Leu241fs	coding	Pathogenic
2	47412491	C	CA	C47412494A	MSH2	NM_000251.2(MSH2):c.725dup:p.Asn242fs	coding	Pathogenic
2	47412495	C	CG	T47412498G	MSH2	NM_000251.2(MSH2):c.729dup:p.Leu244fs	coding	Pathogenic
2	47412497	GT	G	T47412499G	MSH2	NM_000251.2(MSH2):c.731del:p.Leu244fs	coding	Pathogenic
2	47412502	T	TG	A47412504G	MSH2	NM_000251.2(MSH2):c.735dup:p.Lys246fs	coding	Pathogenic
2	47412509	CA	C	A47412514G	MSH2	NM_000251.2(MSH2):c.746del:p.Lys249fs	coding	Pathogenic
2	47412509	C	CA	G47412515A	MSH2	NM_000251.3(MSH2):c.746dup:p.Glu251fs	coding	Pathogenic
2	47412524	GATGA	G	G47412527A	MSH2	NM_000251.2(MSH2):c.759_762del:p.Met253fs	coding	Pathogenic
2	47412526	TG	T	G47412527A	MSH2	NM_000251.2(MSH2):c.759del:p.Met253fs	coding	Pathogenic
2	47412527	GA	G	A47412529T	MSH2	NM_000251.2(MSH2):c.761del:p.Asn254fs	coding	Pathogenic
2	47412531	AGTG	TT	A47412531T	MSH2	NM_000251.2(MSH2):c.763_766delinsTT:p.Ser255fs	coding	Pathogenic
2	47412534	G	GCT	G47412537C	MSH2	NM_000251.2(MSH2):c.767_768dup:p.Val257fs	coding	Pathogenic
2	47412537	GTA	G	A47412539T	MSH2	NM_000251.3(MSH2):c.771_772del:p.Leu258fs	coding	Pathogenic
2	47412550	T	TA	G47412551A	MSH2	NM_000251.2(MSH2):c.782_783insA:p.Met261fs	coding	Pathogenic
2	47412555	AAT	A	A47412556C	MSH2	NM_000251.2(MSH2):c.788_789del:p.Asn263fs	coding	Pathogenic
2	47412557	T	TC	A47412559C	MSH2	NM_000251.2(MSH2):c.790dup:p.Gln264fs	coding	Pathogenic
2	47412559	AG	A	G47412561T	MSH2	NM_000251.3(MSH2):c.792+1del	coding	Pathogenic/Likely_pathogenic
2	47412567	GGATTATAAATGTGAATTACAATATATATAATGTAAATATGTAATATATAATAAATAATATGTAAACTATAGTGACTTTTTAGAAGGATATTTCTGTCATATTTATCTCAAAACCTAAACTGTGTATCAATGATATTAAGCTTTTTTTTTTTTTTGAGACAGAGTTTCACTTTTGTTGCCCAGGCTGGAGTACAATGGCGCGATCTTGGCTCACCACATCCTCTGCCTCCCAGGTTCAAGTGATCCTCCTGCCTTGGCCTCCTGAGTAGCTGGGATTACAGGCATGTGCCACCACGCCTGGCTCATCTTTTTTGTATTTTTAGTAGAGATGGGGTTTCTCTATGTTGGTCAGGCTGGTCTCAAACTCCTGAACCTCAGGTGATCCGCCCGCCTCGGGCTTCCAAAGCGCTGAGATTGCAGGCATGAGCCACTGTGTCTGGCCTATTTTTATAGTTTATGTACTTGGAATTATATAATATATTCTGCCTAGCTTCTTTCATTCAATATTTGTAAGATTTATCCATATTATTGAGTGTAGTTGTGGATTTTTGCATTTATATTTCATAGCACGAGCATGTCAGAATTTATCCATTTTACTTCCCTTCTGCCCGCCACTGCTACTCTCCCCATTTTACCTTTTTTTTTGTTTTTTTGAGATGGAGTCTCAGAATTTCGCTCTGTCGCCCAGGCTGGAGTGCTGTGGCACGGTCTCAGCTCACTGCAACTTCTGCCTCTGGGTTCAGCTGCACGCCACCATGCCTGGCTAATTTTTGTATTTTCAGTAGAGGGGATTTTGCTATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCACCCACCTTGGCCTGCCAGAGTGCTGTGATTACAGGCGTGAACCACCGTGCCCGACCCCCATTCTAATTTTGATGGACATTTGGGTAATTTTCATTTTTGGCTGTTATAAATACTGCTGCAATTACAGTTAATTTTCACAGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGGTGAGTTTCGCTCTTGTTGCTCAGGCTGGAGTGCAGTGGTGCGATCTCAGCCCACTGCAACCTTCACCTTCTGGATTCAAGCAATTCTCCTTTCTCATCTCCTAAGTAGCTGGGGTTTACAGGCATGTGCCACCATGCCCAGCTAATTTTTGTATTTTAATTTCACAGTTCTGGAGGCTGGGAAGTTCAGAATTAAGGCACTGGCTGATCTGTTGTCTGGTGAGGGCCCACTTGTTCATAGATAACCATTTTCTCACTCTAACCTCACAAGGTTGAAAGGGCCTAATTTTTGTGTTTTTAGTAGAGACGGGGTTTCACTATGTTGGCTAGGCTGGTCTCAAACTCCTAGCCTCGAGTCATCCACCCGCCTCGTCCTCCCGGAGTGCTTGGATTACAGCATGAGCCACTGCGCCCGGCCCCCATTTTAGTTTTGATGGACATTTGGGTAATTTTCTTTTTTGGCTATTCTAAATAATGCTGCAATTACTGTTAATTTTCACCTTGTAAAAACCATTTTCAAATCTCAAGAGATTAACCTTTAGTTTTCTTGGTTTGGATTGGGAAGGAACACCAAGGAAAATGAGGGACTTCAGAATTTATTTTCATTTTGCATTTGTTTTTTAAAATCTTTAGAACTGGATCCAGTGGTATAGAAATCTTCGATTTTTAAATTCTTAATTTTAGGTTGCAGTTTCATCACTGTCTGCGGTAATCAAGTTTTTAGAACTCTTATCAGATGATTCCAACTTTGGACAGTTTGAACTGACTACTTTTGACTTCAGCCAGTATATGAAATTGGATATTGCAGCAGTCAGAGCCCTTAACCTTTTTCAGGTAAAAAAAAAAAAAAAAAAAAAAAAAAAGGGTTAAAAATGTTGAATGGTTAAAAAATGTTTTCATTGACATATACTGAAGAAGCTTATAAAGGAGCTAAAATATTTTGAAATATTATTATACTTGGATTAGATAACTAGCTTTAAATGGCTGTATTTTTCTCTCCCCTCCTCCACTCCACTTTTTAACTTTTTTTTTTTTAAGTCAGAGTCTCACTTGTTCCCTAGGCCAGAGTGCAGTGGCACAATCTCAGCCCACTCTAACCTCCACCTCCCAAGTAGTTGGGATTACAGTTGCCTGCCACCATGCCTGGTTAATTTTTATATTTTTAGTAGGGTTGCGGGGACAGGGTTTCACCATGTTGGCCAGGTTGGTCTCAAACTTCTGACCTTAGGTGATCCTCCCACCTCGGCTTCCCAAAGTGCTGGGATTACAGGCTTGAGCCATCGTGCCCAGCCTACTTTTTACTTTTTTAGAGACTGGGCTTGGTGGAGTGAAGTGGCAAGATCATAGCTCACTGCAGTATTGAACTCCTGGGCTCAAGCGATCTTCCTGCTTCAACCTCATGAGTAGCTGGGTCTACAGGCACAAGCCACCATGCTTGCCTAATTTTAAAATTTTTGCAGAGTTGGAGTTTCACAGTGTTGCCCAGGATGTTCGCTCACTCCTGACTTCAAGTGATTCTTCTGCCTTAGCCTCTAGAGTGGTAGCTGGGATTACAGGCATGAACCACCATGCTCTGCTATTTTTTTTCAAGGTTTTTTTTTTTTTTTTTTTTTTTGAGAGACTGGTATGACTATGTATGCTCCCTAGGCTGGAGTGCAGTGGCTATTCACAGGAAGTGCCATCAGAGTGTACTACAGCTTCAAACTCCTGGGCTCAAGCACTTCTATCATAGTCTCCAAAGTAGCTGGGACTACGAGTGTGTCTCATTGTGCCTTGCTCTCGAATTGCTTTTTTTTTTTTTTTCTGGTTTCAAGCTATCTATGTGGTATTAGTCCTCACTTTATGAATAATTTTGTATACTACTAATAGCAATTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCATTCTTGTCGCCCAGGCTGGAGTGCAGTGGTGTGATCTTAGCTCACTGCAACCTCTGCCTCTCCGGTTTGGGCAATTAGCTGGGATTAGAGGCGCCTGCCACCATGCCCAGCTAATTTTTGTATTTTTAGTAGACATGGGGTTTCATCTTGTTGGCTAGGCTGGACTCTAACTCCAGGTGATCTGCCTGCCTCGGCCTCCCAAATTGATGGGATTACAGGTGTAAACCACTGGGCCTGGCCTAGCAATTTAAAATGACATTCTAAGAAGTTTTATGTCTAAATCTGCAGTAAGTGGCTGGGTGACGTGGCTCATGCCTGTAATCCCAACGCTTTGGGAGTCCAGGGTGGGAGGAT	G	T47412570C	MSH2	NM_000251.2(MSH2):c.792+10_943-448del	noncoding	Pathogenic
2	47414262	ATTTTAGGTTGCAGTTTCATCACTGTCTGCGGTAATCAAGTTTTTAGAACTCTTATCAGATGATTCCAACTTTGGACAGTTTGAACTGACTACTTTTGACTTCAGCCAGTATATGAAATTGGATATTGCAGCAGTCAGAGCCCTTAACCTTTTTCAGGTAAAAAAAAAAAAAAAAAAAAAAAAAAAGGGTTAAAAATGTTGAATGGTTAAAAAATGTTTTCATTGACATATACTGAAGAAGCTTATAAAGGAGCTAAAATATTTTGAAATATTATTATACTTGGATTAGATAACTAGCTTTAAATGGCTGTATTTTTCTCTCCCCTCCTCCACTCCACTTTTTAACTTTTTTTTTTTTAAGTCAGAGTCTCACTTGTTCCCTAGGCCAGAGTGCAGTGGCACAATCTCAGCCCACTCTAACCTCCACCTCCCAAGTAGTTGGGATTACAGTTGCCTGCCACCATGCCTGGTTAATTTTTATATTTTTAGTAGGGTTGCGGGGACAGGGTTTCACCATGTTGGCCAGGTTGGTCTCAAACTTCTGACCTTAGGTGATCCTCCCACCTCGGCTTCCCAAAGTGCTGGGATTACAGGCTTGAGCCATCGT	A	T47414263G	MSH2	NM_000251.2(MSH2):c.793-6_942+450del	noncoding	Pathogenic
2	47414269	GT	G	T47414271G	MSH2	NM_000251.2(MSH2):c.795del:p.Ala266fs	coding	Pathogenic
2	47414282	C	CTGTACCGCAGATT	A47414283T	MSH2	NM_000251.2(MSH2):c.806_807insTGTACCGCAGATT:p.Leu270fs	coding	Pathogenic
2	47414283	ACTGT	A	T47414287C	MSH2	NM_000251.2(MSH2):c.811_814del:p.Ser271fs	coding	Pathogenic
2	47414284	CTG	C	G47414286C	MSH2	NM_000251.2(MSH2):c.810_811del:p.Ser271fs	coding	Pathogenic
2	47414286	GTC	G	C47414288G	MSH2	NM_000251.2(MSH2):c.812_813del:p.Ser271fs	coding	Pathogenic
2	47414291	CG	C	G47414293T	MSH2	NM_000251.3(MSH2):c.817del:p.Ala272_Val273insTer	coding	Pathogenic
2	47414295	AAT	TG	A47414295T	MSH2	NM_000251.2(MSH2):c.819_821delinsTG:p.Ile274fs	coding	Pathogenic
2	47414306	TAG	T	G47414308A	MSH2	NM_000251.3(MSH2):c.832_833del:p.Glu278fs	coding	Pathogenic
2	47414311	CT	C	T47414312C	MSH2	NM_000251.2(MSH2):c.836del:p.Leu279fs	coding	Pathogenic
2	47414313	C	CT	A47414316T	MSH2	NM_000251.2(MSH2):c.839dup:p.Leu280fs	coding	Pathogenic
2	47414313	CT	C	T47414315A	MSH2	NM_000251.2(MSH2):c.839del:p.Leu280fs	coding	Pathogenic
2	47414324	A	AT	C47414327T	MSH2	NM_000251.2(MSH2):c.850dup:p.Ser284fs	coding	Pathogenic
2	47414328	CA	C	A47414330C	MSH2	NM_000251.2(MSH2):c.854del:p.Asn285fs	coding	Pathogenic
2	47414331	CT	C	T47414334G	MSH2	NM_000251.2(MSH2):c.858del:p.Phe286fs	coding	Pathogenic
2	47414334	T	TG	A47414337G	MSH2	NM_000251.2(MSH2):c.860dup:p.Gln288fs	coding	Pathogenic/Likely_pathogenic
2	47414338	CA	C	A47414339G	MSH2	NM_000251.2(MSH2):c.863del:p.Gln288fs	coding	Pathogenic
2	47414340	GT	G	T47414343G	MSH2	NM_000251.3(MSH2):c.867del:p.Phe289fs	coding	Pathogenic
2	47414342	TTGAAC	T	A47414346C	MSH2	NM_000251.2(MSH2):c.870_874del:p.Glu290fs	coding	Pathogenic
2	47414345	AACTG	A	G47414349A	MSH2	NM_000251.2(MSH2):c.873_876del:p.Thr292fs	coding	Pathogenic
2	47414346	AC	A	C47414347T	MSH2	NM_000251.2(MSH2):c.871del:p.Glu290_Leu291insTer	coding	Pathogenic
2	47414349	GAC	G	A47414350T	MSH2	NM_000251.3(MSH2):c.874_875del:p.Thr292fs	coding	Pathogenic
2	47414351	C	CT	A47414353T	MSH2	NM_000251.2(MSH2):c.876dup:p.Thr293fs	coding	Pathogenic
2	47414354	CT	C	T47414358G	MSH2	NM_000251.3(MSH2):c.882del:p.Phe294fs	coding	Pathogenic
2	47414354	CTT	C	T47414357G	MSH2	NM_000251.2(MSH2):c.881_882del:p.Thr293_Phe294insTer	coding	Pathogenic
2	47414363	TCAGC	ACTTTTTCAGTATATGACTACTTTTGACTACTTTTT	T47414363A	MSH2	NM_000251.3(MSH2):c.887_891delinsACTTTTTCAGTATATGACTACTTTTGACTACTTTTT:p.Phe296_Ser297delinsTyrPhePheSerIleTer	coding	Pathogenic
2	47414363	TC	T	C47414364A	MSH2	NM_000251.2(MSH2):c.888del:p.Phe296fs	coding	Pathogenic
2	47414370	G	GTA	G47414376A	MSH2	NM_000251.2(MSH2):c.896_897AT[3]:p.Met300fs	coding	Pathogenic
2	47414386	A	AT	G47414389T	MSH2	NM_000251.2(MSH2):c.912dup:p.Ala305fs	coding	Pathogenic
2	47414388	TGCAGCAGTCA	T	C47414390A	MSH2	NM_000251.3(MSH2):c.914_923del:p.Ala305fs	coding	Pathogenic
2	47414388	T	TG	C47414390G	MSH2	NM_000251.2(MSH2):c.913dup:p.Ala305fs	coding	Pathogenic
2	47414390	CA	C	A47414391G	MSH2	NM_000251.3(MSH2):c.915del:p.Ala306fs	coding	Pathogenic
2	47414390	C	CAGCAGTCA	G47414399A	MSH2	NM_000251.2(MSH2):c.915_922dup:p.Arg308fs	coding	Pathogenic
2	47414406	TA	T	A47414408C	MSH2	NM_000251.2(MSH2):c.932del:p.Asn311fs	coding	Pathogenic
2	47414408	AC	A	C47414410T	MSH2	NM_000251.2(MSH2):c.934del:p.Leu312fs	coding	Pathogenic
2	47414410	C	CTT	C47414416T	MSH2	NM_000251.3(MSH2):c.938_939dup:p.Gln314fs	coding	Pathogenic
2	47414410	CT	C	T47414415C	MSH2	NM_000251.2(MSH2):c.939del:p.Gln314fs	coding	Pathogenic
2	47414420	TAAAAAAAAAAAAAAAA	T	A47414432G	MSH2	NM_000251.3(MSH2):c.942+14_942+29del	noncoding	Benign
2	47414420	T	TAAAAAAAAAAAAAAAAAAAAAAA	G47414448A	MSH2	NM_000251.3(MSH2):c.942+7_942+29dup	noncoding	Benign
2	47416294	AG	A	G47416297T	MSH2	NC_000002.12:g.47416297del	noncoding	Pathogenic
2	47416307	AGATAC	A	G47416308C	MSH2	NM_000251.3(MSH2):c.955_959del:p.Asp319fs	coding	Pathogenic
2	47416310	TAC	T	A47416311C	MSH2	NM_000251.3(MSH2):c.958_959del:p.Thr320fs	coding	Pathogenic
2	47416310	T	TA	C47416312A	MSH2	NM_000251.2(MSH2):c.958dup:p.Thr320fs	coding	Pathogenic
2	47416311	ACCAC	A	C47416312T	MSH2	NM_000251.2(MSH2):c.959_962del:p.Thr320fs	coding	Pathogenic
2	47416311	ACCACTGGCTCTCAGTCTCTGGCTGCCTTGCTGAATAAGTGTAAAAC	A	A47416314C	MSH2	NM_001258281.1(MSH2):c.763_808del:p.Thr255fs	coding	Pathogenic/Likely_pathogenic
2	47416320	T	TCTCA	G47416325C	MSH2	NM_000251.3(MSH2):c.968_971dup:p.Gln324fs	coding	Pathogenic
2	47416322	TCA	T	C47416323G	MSH2	NM_000251.2(MSH2):c.970_971del:p.Gln324fs	coding	Pathogenic
2	47416325	G	GT	C47416327T	MSH2	NM_000251.2(MSH2):c.973dup:p.Ser325fs	coding	Pathogenic
2	47416330	TG	T	G47416332C	MSH2	NM_000251.2(MSH2):c.979del:p.Ala327fs	coding	Pathogenic
2	47416331	G	GT	G47416332T	MSH2	NM_000251.3(MSH2):c.978_979insT:p.Ala327fs	coding	Pathogenic
2	47416341	C	CT	G47416343T	MSH2	NM_000251.2(MSH2):c.989dup:p.Asn331fs	coding	Pathogenic
2	47416356	A	AC	T47416361C	MSH2	NM_000251.2(MSH2):c.1007dup:p.Gln337fs	coding	Pathogenic
2	47416356	AC	A	C47416360T	MSH2	NM_000251.2(MSH2):c.1007del:p.Pro336fs	coding	Pathogenic
2	47416360	CT	C	T47416361C	MSH2	NM_001258281.1(MSH2):c.810del:p.Gln271fs	coding	Pathogenic
2	47416368	CAA	C	A47416370G	MSH2	NM_000251.2(MSH2):c.1017_1018del:p.Arg340fs	coding	Pathogenic
2	47416368	C	CA	G47416372A	MSH2	NM_000251.2(MSH2):c.1018dup:p.Arg340fs	coding	Pathogenic
2	47416374	CT	C	T47416376G	MSH2	NM_000251.2(MSH2):c.1023del:p.Val342fs	coding	Pathogenic/Likely_pathogenic
2	47416389	A	ATT	A47416392T	MSH2	NM_000251.2(MSH2):c.1037_1038dup:p.Lys347fs	coding	Pathogenic
2	47416394	GC	G	C47416395A	MSH2	NM_000251.2(MSH2):c.1042del:p.Gln348fs	coding	Pathogenic
2	47416395	CA	C	A47416396G	MSH2	NM_000251.2(MSH2):c.1043del:p.Gln348fs	coding	Pathogenic
2	47416409	TA	T	A47416411G	MSH2	NM_000251.3(MSH2):c.1058del:p.Lys353fs	coding	Pathogenic
2	47416411	AG	A	G47416412A	MSH2	NM_000251.2(MSH2):c.1059del:p.Asn354fs	coding	Pathogenic
2	47416420	TA	T	A47416421G	MSH2	NM_000251.2(MSH2):c.1068del:p.Ile356fs	coding	Pathogenic
2	47416423	A	AGG	A47416426G	MSH2	NM_000251.2(MSH2):c.1071_1072dup:p.Glu358fs	coding	Pathogenic
2	47416424	G	GGA	G47416430A	MSH2	NM_000251.2(MSH2):c.1075_1076dup:p.Leu360Aspfs	coding	Pathogenic
2	47429605	G	GTGAGCCACTGCGCCCAGCAGATTCAAGCTTTTTAAATGGAATTTTGAGCTGATTTAGTTGAGACTTACGTGCTTAGTTGATAAATTTTAATTTTATACTAAAATATTTTACATTAATTCAAGTTAATTTATTTCAGATTGAATTTAGTGGAAGCTTTTGTAGAAGATGCAGAATTGAGGCAGACTTTACAAGAAGATTTACTTCGTCGATTCCCAGATCTTAACCGACTTGCCAAGAAGTTTCAAAGACAAGCAGCAAACTTACAAGATTGTTACCGACTCTATCAGGGTATAAATCAACTACCTAATGTTATACAGGCTCTGGAAAAACATGAAGGTAACAAGTGATTTTGTTTTTTTGTTTTCCTTCAACTCATACAATATATACTTGGCAATGTGCTGTCCTCATAAAGTTGGTGGTGGTGACTCACTCTTAGGACACATTCAGATTTCTT	T47430061G	MSH2	NM_000251.3(MSH2):c.1077-135_1276+119dup	noncoding	Pathogenic
2	47429672	ACGTGCTTAGTTGATAAATTTTAATTTTATACTAAAATATTTTACATTAATTCAAGTTAATTTATTTCAGATTGAATTTAGTGGAAGCTTTTGTAGAAGATGCAGAATTGAGGCAGACTTTACAAGAAGATTTACTT	A	G47429676C	MSH2	NM_000251.2(MSH2):c.1077-66_1146del	noncoding	Pathogenic/Likely_pathogenic
2	47429739	CAGATTGAATTTAGTGGAAGCTTTTGTAGAAGATGCAGAATTGAGGCAGACTTTACAAGAAGATTTACTTCGTCGATTCCCAGATCTTAACCGACTTGCCAAGAAGTTTCAAAGACAAGCAGCAAACTTACAAGATTGTTACCGACTCTATCAGGGTATAAATCAACTACCTAATGTTATACAGGCTCTGGAAAAACATGA	C	A47429742G	MSH2	NM_000251.2(MSH2):c.1077_1276del200:p.Leu360Lysfs	noncoding	Pathogenic
2	47429745	GA	G	A47429747T	MSH2	NM_000251.3(MSH2):c.1082del:p.Asn361fs	coding	Pathogenic
2	47429762	T	TA	T47429763A	MSH2	NM_000251.2(MSH2):c.1097_1098insA:p.Phe366fs	coding	Pathogenic
2	47429763	TG	T	G47429764T	MSH2	NM_000251.2(MSH2):c.1099del:p.Phe366_Val367insTer	coding	Pathogenic
2	47429772	TG	T	G47429773C	MSH2	NM_000251.2(MSH2):c.1108del:p.Ala370fs	coding	Pathogenic
2	47429782	AG	A	G47429784C	MSH2	NM_000251.2(MSH2):c.1119del:p.Arg373fs	coding	Pathogenic
2	47429789	C	CTA	T47429791A	MSH2	NM_000251.2(MSH2):c.1125_1126insAT:p.Leu376fs	coding	Pathogenic
2	47429791	T	TTA	C47429794T	MSH2	NM_000251.2(MSH2):c.1127_1128dup:p.Gln377fs	coding	Pathogenic
2	47429801	AT	A	T47429804A	MSH2	NM_000251.2(MSH2):c.1139del:p.Leu380fs	coding	Pathogenic
2	47429806	CT	C	T47429808C	MSH2	NM_000251.2(MSH2):c.1143del:p.Arg382fs	coding	Pathogenic
2	47429808	TC	T	C47429809G	MSH2	NM_000251.2(MSH2):c.1144del:p.Arg382fs	coding	Pathogenic
2	47429808	T	TC	G47429810C	MSH2	NM_000251.2(MSH2):c.1144dup:p.Arg382fs	coding	Pathogenic
2	47429814	A	AT	C47429817T	MSH2	NM_000251.3(MSH2):c.1151dup:p.Asp386fs	coding	Pathogenic
2	47429816	TC	T	C47429819A	MSH2	NM_000251.3(MSH2):c.1154del:p.Pro385fs	coding	Pathogenic
2	47429820	AGATCTTAACC	A	T47429823C	MSH2	NM_000251.2(MSH2):c.1158_1167del:p.Asn388fs	coding	Pathogenic
2	47429821	G	GA	T47429823A	MSH2	NM_000251.2(MSH2):c.1157dup:p.Asp386fs	coding	Pathogenic
2	47429839	AAG	A	G47429841A	MSH2	NM_000251.2(MSH2):c.1176_1177del:p.Lys393fs	coding	Pathogenic
2	47429856	A	AG	C47429858G	MSH2	NM_000251.2(MSH2):c.1192dup:p.Ala398fs	coding	Pathogenic
2	47429860	G	GCA	A47429863C	MSH2	NM_000251.2(MSH2):c.1196_1197dup:p.Asn400fs	coding	Pathogenic
2	47429863	AACTT	A	T47429866A	MSH2	NM_000251.2(MSH2):c.1201_1204del:p.Leu401fs	coding	Pathogenic
2	47429865	C	CTT	A47429868T	MSH2	NM_000251.2(MSH2):c.1201_1202dup:p.Leu401fs	coding	Pathogenic
2	47429867	T	TA	C47429869A	MSH2	NM_000251.2(MSH2):c.1203dup:p.Gln402fs	coding	Pathogenic
2	47429868	AC	A	C47429869A	MSH2	NM_000251.2(MSH2):c.1204del:p.Gln402fs	coding	Pathogenic
2	47429872	GA	G	A47429873T	MSH2	NM_000251.2(MSH2):c.1208del:p.Asp403fs	coding	Pathogenic
2	47429873	AT	A	T47429875G	MSH2	NM_000251.2(MSH2):c.1210del:p.Cys404fs	coding	Pathogenic
2	47429878	T	TACCG	T47429885C	MSH2	NM_000251.2(MSH2):c.1216_1219dup:p.Leu407fs	coding	Pathogenic
2	47429883	ACT	A	C47429886A	MSH2	NM_000251.2(MSH2):c.1219_1220CT[1]:p.Tyr408fs	coding	Pathogenic
2	47429886	C	CT	A47429888T	MSH2	NM_000251.2(MSH2):c.1222dup:p.Tyr408fs	coding	Pathogenic
2	47429890	CAG	C	A47429891G	MSH2	NM_000251.2(MSH2):c.1226_1227del:p.Gln409fs	coding	Pathogenic
2	47429891	AG	A	G47429894T	MSH2	NM_000251.2(MSH2):c.1229del:p.Gly410fs	coding	Pathogenic
2	47429904	ACTAC	A	C47429908A	MSH2	NM_000251.2(MSH2):c.1243_1246del:p.Pro415fs	coding	Pathogenic
2	47429911	A	AATGTTATACAG	G47429923A	MSH2	NM_000251.2(MSH2):c.1247_1257dup:p.Ala420fs	coding	Pathogenic
2	47429911	AATGTT	A	G47429914A	MSH2	NM_000251.2(MSH2):c.1249_1253del:p.Val417fs	coding	Pathogenic
2	47429913	TG	T	G47429914T	MSH2	NM_000251.2(MSH2):c.1249del:p.Val417fs	coding	Pathogenic
2	47429914	GT	G	T47429916A	MSH2	NM_000251.3(MSH2):c.1251del:p.Ile418fs	coding	Pathogenic
2	47429916	TATACAGGCTCTGGAAAA	AGTT	T47429916A	MSH2	NM_000251.3(MSH2):c.1251_1268delinsAGTT:p.Ile418fs	coding	Pathogenic/Likely_pathogenic
2	47429916	T	TA	T47429918A	MSH2	NM_000251.2(MSH2):c.1252dup:p.Ile418fs	coding	Pathogenic
2	47429922	GGCTCTGGAAAAACATGAA	G	C47429924G	MSH2	NM_000251.3(MSH2):c.1259_1276del:p.Ala420_Glu425del	coding	Pathogenic
2	47429929	G	GA	C47429935A	MSH2	NM_000251.2(MSH2):c.1269dup:p.His424fs	coding	Pathogenic
2	47429930	AAAAA	GAAAAG	A47429930G	MSH2	NM_001258281.1(MSH2):c.1067_1071delinsGAAAAG:p.Glu356fs	coding	Pathogenic
2	47429935	C	CA	T47429937A	MSH2	NM_000251.2(MSH2):c.1271dup:p.His424fs	coding	Pathogenic
2	47444368	TGCTAAAATTTCTGGAGAAGTTTGGGAACTATTGTTTTGGAGTGAAATGCAGTGTGTTAGATATCACTTGCAGAATTCTTCTAAGGGTATTTATTGGCGATTAGAAAAAAAATCCTTGTGTTATACCAGTAGTAATACAAAGTAATTGTTCAGCTTCTGTTAAGTGTAAAGGACTATACAAGTATTGTGTATAGTTATCTCATTTATTATTTTCTGGGTAGCTATTGTTATTATTACTTCGTACAAAAAGGGAAAAGGAGGCTCAAAGTATCATGCTCCAGATAACAGAGCCAGTAGGTAGCAGAGCTGGGATTGCTACCCAGGTCTCTAGTCCTGCTTTTTCACACTATATACTCATTGCTTCACTTACTCCTTCATACATGATTCCCCAGCATGTACTCTTTTTTTTTTTTTTTTTTTTTTGTTTGAGATAGAATCTCGCTCTCTGTTGCCCAGGCTGGCAGGCAGTAGTGTGATCTTGGGCTAACTGCAACCTCCATCTCCTGCATTCAAGCAGTTCTCCTGCTTCAACCTCCTGAGTAGCTGAGATTATAAGCCTATGCTACCACGCCTGGCTAATTTTTGTATTTTTAGCAGAGATGAGGTTTCGCCTTGTTGGCCAGGCTGGTCTCAAACTCCTGAACTCAAGTGATCTGCCCACCTCAGCCTCCGAAAGTGCTGGGATTATAGGCATGAGCCATCATGTCCGGCCTCCCCATCATGTACCCTTAAATACCATCAAGCACAGTTCCATTGTGTAAAAACTTGGCTTGATTTAACCTGTTAATTGGAACACTGTCATTAATGGAAATTAGGAATATGAGGTAAGCTAGAGGTTTTATTTTAATGACTTTGGGTTATTAAATCTATAAGAAATGAAATTCATTTAGTCATAATTAATGTCATGTTTCTGCATCTATATTACTTGTTGGGTTTACAGACGAGGTAGTGTATTATTAGTGGGAAGCTTTGAGTGCTACATCATCTCCCTTTCTATAAAATAAATTGAGTACGAAACAATTTGAATTAAAACACCTGAGTAAATAGTAACTTTGGAGACCTGCTGTACTATTTGTACCTTTTGGATCAAATGATGCTTGTTTATCTCAGTCAAAATTTTATGATTTGTATTCTGTAAAATGAGATCTTTTTATTTGTTTGTTTTACTACTTTCTTTTAGGAAAACACCAGAAATTATTGTTGGCAGTTTTTGTGACTCCTCTTACTGATCTTCGTTCTGACTTCTCCAAGTTTCAGGAAATGATAGAAACAACTTTAGATATGGATCAGGTATGCAATATACTTTTTAATTTAAGCAGTAGTTATTTTTAAAAAGCAAAGGCCACTTTAAGAAAGTTTGTAGATTTTTCTTTTTAGTATCTAATTGTAGCACCTTTGTGGACAGTGGATGTAATATTAAGTGACAGATGGGAAAAGGATTTTTAAAAAAATAGCAACTGTTTCAGTGGATGAAATAAAGATTATTAGCAGAGAAAATGAATATTGGGCATAACTGTCCTGGTGAAAGACAATCTCATAAATGAACAATTTCATAATTTCGTAAATGCAACTGCATTTTATTTTCAAAGAGAAGGAAAATTATAGTCACTGGAAACGGAAAGAGAAGTTAGAGGTAAACATAGGACACACAAGAAAACTTTCATTTTGTTTATTTTCTTGTTTTTCTTTTGAGACAGGGTTTCCCTCTGTTACCCAGGCTTAAGTGCAGTGACACTATCATAGTTCACTAACCCCTCAAATTCCTGGGTTCAAGTAATCCTCCTGCCTTAGCCTTAGTAGGTGTAAATACAGGTGTGTACCACCATGCCTGGCGAATTTTAAAAAAACTTTTTTATAGAGATGAGCTCTCGCCGTGTTGCCCAAGCTGGTCCTAAAACGCTGGCCTCAAGCTATCCTCCGGCCTCAGTCTTAGCCTCCCAAAATGCTGGGGTTTCAGTAGAAGCCACCATGCCGGGCCACTTCTGTTTCTTTTCCATGTAGAGTTCTTTGCAGGAGGAGGTTAGAATAGGTGTGCATCTCCTAAATAGTTGTCGAATATAACTAAAAAGTTAACCAGGACTCTAAATACTATTTACTTCTAAAATTTGTTAATTGGGAACATTTAGGGTTTAACTGATCTATATCTTATGTCTTTAACAATTTTGAATGATAATTATATGTAAAGTAAGAACAGTTTGTGAAATAGTTGAAAATATCCTTACATGAAAGTGAATTTTAAAGCACAGTTTATGTAATGTTAATGTTTTGTTTTGTATCTGTTAAAAATTTGTTTATATGAACAAGTTTACAGGTTTACTGTGGTGAGCCCGTTGAATATAGTGGGTTTTTTTTGTTTGTTTTGTTTTTGTTTTTGAGATGAAGTCTCACTCTTGTCCCGAGGCTGATGTGCAATGGCGCGATCTTGGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGCGATTCTCCTGCCTTAGCCTCCCGAGTAGCTGGGATTATAGGCACCTGTCACCAAACCCGGCTAAGTTTTGTATTTTTGGTAGAGATGGGATCTCAGCATGTTGGCCAGGCTGGACTCAGGTGATCCGTCTGCCTCGGCCTCCCAAGTGCTGGGATTACAGGTGTGAGCCACCATGCCGAGCCTGAATATAGTGTTTTTAAGTTGCAGGACTTTAAAAATAATATTTTGAAATTTTTCTAAGTTAAATTCCCTGTTAAAATGGTCATGCAGGAATATACGCTTGCATTATTCATATTAGGGTAACTGTTTGGTTTGCTAGTTGTTAGATTCTTTGCATTCCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTTTCACTCTTTTTGACAAGGCTGGAGTGCAATGGCGCTATCTCGGCTCACCTCAACCTCCGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGAATTACAGGAATACGCCACCAAGCCCGGCTAATTTTGTATTTTTAGTAGAGATGGGGTTTCTCCATGTTGGTCAGGCTGGTCTCAAACTCCCAGTCTCAGGTGATCAGCCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGAGTAATCCCCCACCCTTTTAAAAAAATGAGACAGAGTTTTATTCTGTCACCCAGGGTGGAGTGCAGTGGTGCGATCATGGTTCACCGCAGCCTTGAATCTGGGCTCAAGTGATCCTCCCACTTCAGCCTCCCAAGTAGTTGGAACCATAGATGTGCATCACCACACCTGGCTGATTTTTAAATTATTTGTAGAGATGAGGTCTTGCTTGTTGTCTAGGCTGGTCTTAAACTTCTGGGCTTCAGCAGTCCTCCTGCCTCAGCCTCCCAGAGTGCTGAGATGATAGACATGGGCCACTGCCCCTGGCCGCATTTTTCTTTTCTTTTCCTTTCTTTTTTTTTTTTTTTTTTTGAAACGGAGTTTTGCCATTGTCGCCCAGGCTGGAGTGCAGTGGCACGATCTCTGCTCACTGCAACCTCTGCCTCCCGAG	CATTCTCTTTGAAAA	T47444368C	MSH2	NM_000251.3(MSH2):c.1277-1180_1386+2226delinsCATTCTCTTTGAAAA	noncoding	Pathogenic
2	47444970	AGGTTTCGCCTTGTTGGCCAGGCTGGTCTCAAACTCCTGAACTCAAGTGATCTGCCCACCTCAGCCTCCGAAAGTGCTGGGATTATAGGCATGAGCCATCATGTCCGGCCTCCCCATCATGTACCCTTAAATACCATCAAGCACAGTTCCATTGTGTAAAAACTTGGCTTGATTTAACCTGTTAATTGGAACACTGTCATTAATGGAAATTAGGAATATGAGGTAAGCTAGAGGTTTTATTTTAATGACTTTGGGTTATTAAATCTATAAGAAATGAAATTCATTTAGTCATAATTAATGTCATGTTTCTGCATCTATATTACTTGTTGGGTTTACAGACGAGGTAGTGTATTATTAGTGGGAAGCTTTGAGTGCTACATCATCTCCCTTTCTATAAAATAAATTGAGTACGAAACAATTTGAATTAAAACACCTGAGTAAATAGTAACTTTGGAGACCTGCTGTACTATTTGTACCTTTTGGATCAAATGATGCTTGTTTATCTCAGTCAAAATTTTATGATTTGTATTCTGTAAAATGAGATCTTTTTATTTGTTTGTTTTACTACTTTCTTTTAGGAAAACACCAGAAATTATTGTTGGCAGTTTTTGTGACTCCTCTTACTGATCTTCGTTCTGACTTCTCCAAGTTTCAGGAAATGATAGAAACAACTTTAGATATGGATCAGGTATGCAATATACTTTTTAATTTAAGCAGTAGTTATTTTTAAAAAGCAAAGGCCACTTTAAGAAAGTTTGTAGATTTTTCTTTTTAGTATCTAATTGTAGCACCTTTGTGGACAGTGGATGTAATATTAAGTGACAGATGGGAAAAGGATTTTTAAAAAAATAGCAACTGTTTCAGTGGATGAAATAAAGATTATTAGCAGAGAAAATGAATATTGGGCATAACTGTCCTGGTGAAAGACAATCTCATAAATGAACAATTTCATAATTTCGTAAATGCAACTGCATTTTATTTTCAAAGAGAAGGAAAATTATAGTCACTGGAAACGGAAAGAGAAGTTAGAGGTAAACATAGGACACACAAGAAAACTTTCATTTTGTTTATTTTCTTGTTTTTCTTTTGAGACAGGGTTTCCCTCTGTTACCCAGGCTTAAGTGCAGTGACACTATCATAGTTCACTAACCCCTCAAATTCCTGGGTTCAAGTAATCCTCCTGCCTTAGCCTTAGTAGGTGTAAATACAGGTGTGTACCACCATGCCTGGCGAATTTTAAAAAAACTTTTTTATAGAGATGAGCTCTCGCCGTGTTGCCCAAGCTGGTCCTAAAACGCTGGCCTCAAGCTATCCTCCGGCCTCAGTCTTAGCCTCCCAAAATGCTGGGGTTTCAGTAGAAGCCACCATGCCGGGCCACTTCTGTTTCTTTTCCATGTAGAGTTCTTTGCAGGAGGAGGTTAGAATAGGTGTGCATCTCCTAAATAGTTGTCGAATATAACTAAAAAGTTAACCAGGACTCTAAATACTATTTACTTCTAAAATTTGTTAATTGGGAACATTTAGGGTTTAACTGATCTATATCTTATGTCTTTAACAATTTTGAATGATAATTATATGTAAAGTAAGAACAGTTTGTGAAATAGTTGAAAATATCCTTACATGAAAGTGAATTTTAAAGCACAGTTTATGTAATGTTAATGTTTTGTTTTGTATCTGTTAAAAATTTGTTTATATGAACAAGTTTACAGGTTTACTGTGGTGAGCCCGTTGAATATAGTGGGTTTTTTTTGTTTGTTTTGTTTTTGTTTTTGAGATGAAGTCTCACTCTTGTCCCGAGGCTGATGTGCAATGGCGCGATCTTGGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGCGATTCTCCTGCCTTAGCCTCCCGAGTAGCTGGGATTATAGGCACCTGTCACCAAACCCGGCTAAGTTTTGTATTTTTGGTAGAGATGGGATCTCAGCATGTTGGCCAGGCTGGACTCAGGTGATCCGTCTGCCTCGGCCTCCCAAGTGCTGGGATTACAGGTGTGAGCCACCATGCCGAGCCTGAATATAGTGTTTTTAAGTTGCAGGACTTTAAAAATAATATTTTGAAATTTTTCTAAGTTAAATTCCCTGTTAAAATGGTCATGCAGGAATATACGCTTGCATTATTCATATTAGGGTAACTGTTTGGTTTGCTAGTTGTTAGATTCTTTGCATTCCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTTTCACTCTTTTTGACAAGGCTGGAGTGCAATGGCGCTATCTCGGCTCACCTCAACCTCCGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGAATTACAGGAATACGCCACCAAGCCCGGCTAATTTTGTATTTTTAGTAGAGATGGGGTTTCTCCATGTTGGTCAGGCTGGTCTCAAACTCCCAGTCTCAGGTGATCAGCCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGAGTAATCCCCCACCCTTTTAAAAAAATGAGACAGAGTTTTATTCTGTCACCCAGGGTGGAGTGCAGTGGTGCGATCATGGTTCACCGCAGCCTTGAATCTGGGCTCAAGTGATCCTCCCACTTCAGCCTCCCAAGTAGTTGGAACCATAGATGTGCATCACCACACCTGGCTGATTTTTAAATTATTTGTAGAGATGAGGTCTTGCTTGTTGTCTAGGCTGGTCTTAAACTTCTGGGCTTCAGCAGTCCTCCTGCCTCAGCCTCCCAGAGTGCTGAGATGATAGACATGGGCCACTGCCCCTGGCCGCATTTTTCTTTTCTTTTCCTTTCTTTTTTTTTTTTTTTTTTTGAAACGGAGTTTTGCCATTGTCGCCCAGGCTGGAGTGCAGTGGCACGATCTCTGCTCACTGCAACCTCTGCCTCCCGAGTTCAAGCCATTCTTCTGCCTCAGCCTTCCAGTTATCTGGGATTACAGTCATGTGCCACCACGCCCAGCTAATTTTTGTATTTTTAGTAGAAACAG	A	G47444977T	MSH2	NM_000251.2(MSH2):c.1277-571_1386+2327del	noncoding	Pathogenic
2	47445545	TAGGAAAACACCAGAAATTATTGTTGGCAGTTTTTGTGACTCCTCTTACTGATCTTCGTTCTGACTTCTCCAAGTTTCAGGAAATGATAGAAACAACTTTAGATATGGATC	T	A47445549T	MSH2	NM_000251.3(MSH2):c.1278_1386+1del	noncoding	Pathogenic
2	47445554	AC	A	C47445556A	MSH2	NM_000251.2(MSH2):c.1285del:p.Gln429fs	coding	Pathogenic
2	47445557	A	AG	A47445559G	MSH2	NM_000251.2(MSH2):c.1287dup:p.Lys430fs	coding	Pathogenic
2	47445563	T	TA	T47445565A	MSH2	NM_000251.2(MSH2):c.1293dup:p.Leu432fs	coding	Pathogenic
2	47445574	G	GT	G47445580T	MSH2	NM_000251.2(MSH2):c.1308dup:p.Val437fs	coding	Pathogenic
2	47445574	G	GTT	G47445580T	MSH2	NM_000251.2(MSH2):c.1307_1308dup:p.Val437fs	coding	Pathogenic
2	47445585	TC	T	C47445587T	MSH2	NM_000251.3(MSH2):c.1316del:p.Pro439fs	coding	Pathogenic
2	47445586	CCT	C	C47445589T	MSH2	NM_001258281.1(MSH2):c.1118_1119CT[1]:p.Leu374fs	coding	Pathogenic
2	47445591	TA	T	A47445592C	MSH2	NM_000251.3(MSH2):c.1321del:p.Thr441fs	coding	Pathogenic
2	47445591	T	TA	C47445593A	MSH2	NM_000251.2(MSH2):c.1321dup:p.Thr441fs	coding	Pathogenic
2	47445609	CTT	C	T47445610C	MSH2	NM_000251.2(MSH2):c.1339_1340del:p.Phe447fs	coding	Pathogenic
2	47445611	T	TGG	C47445612G	MSH2	NM_000251.2(MSH2):c.1340_1341insGG:p.Phe447fs	coding	Pathogenic
2	47445613	TC	T	C47445615A	MSH2	NM_000251.2(MSH2):c.1344del:p.Lys449fs	coding	Pathogenic
2	47445615	CAAGT	C	A47445616T	MSH2	NM_000251.2(MSH2):c.1345_1348del:p.Lys449fs	coding	Pathogenic
2	47445618	GT	G	T47445621C	MSH2	NM_000251.2(MSH2):c.1350del:p.Gln451fs	coding	Pathogenic
2	47445622	CAG	C	A47445623G	MSH2	NM_000251.2(MSH2):c.1352_1353del:p.Gln451fs	coding	Pathogenic
2	47445625	G	GT	A47445626T	MSH2	NM_000251.2(MSH2):c.1354_1355insT:p.Glu452fs	coding	Pathogenic
2	47445641	CT	C	T47445644A	MSH2	NM_000251.2(MSH2):c.1373del:p.Thr457_Leu458insTer	coding	Pathogenic
2	47463014	CTTTG	C	T47463017C	MSH2	NM_000251.3(MSH2):c.1387-14_1387-11del	noncoding	Benign/Likely_benign
2	47463032	TG	T	G47463034A	MSH2	NM_000251.2(MSH2):c.1390del:p.Glu464fs	coding	Pathogenic
2	47463034	GA	G	A47463038C	MSH2	NM_000251.2(MSH2):c.1394del:p.Asn465fs	coding	Pathogenic
2	47463034	G	GA	C47463039A	MSH2	NM_000251.2(MSH2):c.1394dup:p.Asn465fs	coding	Pathogenic
2	47463038	AC	A	C47463040A	MSH2	NM_000251.2(MSH2):c.1396del:p.His466fs	coding	Pathogenic
2	47463043	GA	G	A47463045T	MSH2	NM_000251.2(MSH2):c.1401del:p.Glu467fs	coding	Pathogenic/Likely_pathogenic
2	47463043	G	GA	T47463046A	MSH2	NM_000251.3(MSH2):c.1401dup:p.Phe468fs	coding	Pathogenic
2	47463047	TCCTTGTA	T	C47463048A	MSH2	NM_000251.2(MSH2):c.1404_1410del:p.Phe468fs	coding	Pathogenic
2	47463047	TC	T	C47463049T	MSH2	NM_000251.2(MSH2):c.1405del:p.Leu469_Val470insTer	coding	Pathogenic
2	47463051	TG	T	G47463052T	MSH2	NM_000251.2(MSH2):c.1408del:p.Leu469_Val470insTer	coding	Pathogenic
2	47463053	TA	T	A47463057C	MSH2	NM_000251.2(MSH2):c.1413del:p.Lys471fs	coding	Pathogenic
2	47463057	A	AC	T47463060C	MSH2	NM_000251.3(MSH2):c.1415dup:p.Ser473fs	coding	Pathogenic
2	47463074	A	ATC	A47463079T	MSH2	NM_000251.2(MSH2):c.1431_1432TC[3]:p.Glu480fs	coding	Pathogenic
2	47463082	G	GA	T47463085A	MSH2	NM_000251.3(MSH2):c.1440dup:p.Leu481fs	coding	Pathogenic
2	47463086	TAAGAG	T	G47463089A	MSH2	NM_000251.2(MSH2):c.1445_1449del:p.Arg482fs	coding	Pathogenic
2	47463086	TA	T	A47463088G	MSH2	NM_000251.2(MSH2):c.1444del:p.Arg482fs	coding	Pathogenic
2	47463086	T	TA	G47463089A	MSH2	NM_000251.2(MSH2):c.1444dup:p.Arg482fs	coding	Pathogenic
2	47463087	AAG	A	G47463091A	MSH2	NM_000251.2(MSH2):c.1445_1446GA[1]:p.Glu483fs	coding	Pathogenic
2	47463095	TAATG	T	A47463101C	MSH2	NM_000251.3(MSH2):c.1457_1460del:p.Asn486fs	coding	Pathogenic
2	47463095	T	TAATG	C47463105A	MSH2	NM_000251.2(MSH2):c.1453_1456ATGA[3]:p.Asp487delinsGluTer	coding	Pathogenic
2	47463099	GA	G	A47463101T	MSH2	NM_000251.2(MSH2):c.1457del:p.Asn486fs	coding	Pathogenic
2	47463105	CTT	C	T47463106G	MSH2	NM_000251.2(MSH2):c.1462_1463del:p.Leu488fs	coding	Pathogenic
2	47463114	GAAG	AAA	G47463114A	MSH2	NM_000251.2(MSH2):c.1470_1473delinsAAA:p.Met492fs	coding	Pathogenic
2	47463120	GC	CT	G47463120C	MSH2	NM_000251.2(MSH2):c.1476_1477delinsCT:p.Met492_Gln493delinsIleTer	coding	Pathogenic
2	47463121	CA	C	A47463122G	MSH2	NM_000251.2(MSH2):c.1478del:p.Gln493fs	coding	Pathogenic
2	47463129	A	ATT	A47463132T	MSH2	NM_000251.3(MSH2):c.1486_1487dup:p.Leu496fs	coding	Pathogenic
2	47463135	A	ATT	A47463136T	MSH2	NM_000251.2(MSH2):c.1491_1492insTT:p.Ser498fs	coding	Pathogenic
2	47463137	G	GT	G47463139T	MSH2	NM_000251.2(MSH2):c.1494dup:p.Ala499fs	coding	Pathogenic
2	47463140	CA	C	A47463141G	MSH2	NM_000251.2(MSH2):c.1497del:p.Ala500fs	coding	Pathogenic
2	47463142	G	GC	A47463145C	MSH2	NM_000251.2(MSH2):c.1500dup:p.Arg501fs	coding	Pathogenic
2	47466664	AC	A	C47466667T	MSH2	NM_000251.2(MSH2):c.1520del:p.Pro507fs	coding	Pathogenic
2	47466676	AGATTAAACTG	A	A47466681C	MSH2	NM_000251.2(MSH2):c.1534_1543del:p.Lys512fs	coding	Pathogenic
2	47466678	AT	A	T47466680A	MSH2	NM_000251.2(MSH2):c.1533del:p.Lys512fs	coding	Pathogenic
2	47466694	GT	G	T47466695G	MSH2	NM_000251.3(MSH2):c.1548del:p.Ser516fs	coding	Pathogenic
2	47466696	GCA	G	C47466699G	MSH2	NM_000251.3(MSH2):c.1550_1551CA[1]:p.Gln518fs	coding	Pathogenic
2	47466701	GT	G	T47466704G	MSH2	NM_000251.2(MSH2):c.1557del:p.Phe519fs	coding	Pathogenic
2	47466706	G	GA	T47466708A	MSH2	NM_000251.2(MSH2):c.1560dup:p.Tyr521fs	coding	Pathogenic
2	47466709	ATTAC	A	A47466712T	MSH2	NM_000251.2(MSH2):c.1565_1568del:p.Tyr522fs	coding	Pathogenic
2	47466716	TC	T	C47466717G	MSH2	NM_000251.2(MSH2):c.1570del:p.Arg524fs	coding	Pathogenic
2	47466717	C	CGTGTAACCTGTAAGGAAGAA	A47466738G	MSH2	NM_000251.3(MSH2):c.1571_1590dup:p.Lys531delinsValTer	coding	Pathogenic
2	47466721	TA	T	A47466723C	MSH2	NM_000251.2(MSH2):c.1576del:p.Thr526fs	coding	Pathogenic
2	47466721	T	TA	C47466724A	MSH2	NM_000251.2(MSH2):c.1576dup:p.Thr526fs	coding	Pathogenic
2	47466723	AC	A	C47466725T	MSH2	NM_000251.2(MSH2):c.1578del:p.Cys527fs	coding	Pathogenic
2	47466725	C	CT	G47466727T	MSH2	NM_000251.2(MSH2):c.1579dup:p.Cys527fs	coding	Pathogenic
2	47466732	GA	G	A47466734G	MSH2	NM_000251.2(MSH2):c.1587del:p.Glu530fs	coding	Pathogenic
2	47466734	AGAAAAAGTCC	T	A47466734T	MSH2	NM_000251.2(MSH2):c.1587_1597delinsT:p.Glu529fs	coding	Pathogenic
2	47466740	A	AG	T47466742G	MSH2	NM_000251.2(MSH2):c.1594dup:p.Val532fs	coding	Pathogenic
2	47466764	TA	T	A47466765G	MSH2	NM_000251.3(MSH2):c.1618del:p.Ser540fs	coding	Pathogenic
2	47466773	AG	A	G47466774A	MSH2	NM_000251.2(MSH2):c.1627del:p.Asp543fs	coding	Pathogenic
2	47466782	G	GA	G47466785A	MSH2	NM_000251.2(MSH2):c.1637dup:p.Asn547fs	coding	Pathogenic
2	47466783	A	AAG	A47466787G	MSH2	NM_000251.2(MSH2):c.1638_1639dup:p.Asn547fs	coding	Pathogenic
2	47466788	TG	T	G47466790T	MSH2	NM_000251.3(MSH2):c.1643del:p.Gly548fs	coding	Pathogenic
2	47466794	TAA	T	A47466796T	MSH2	NM_000251.2(MSH2):c.1649_1650del:p.Lys550fs	coding	Pathogenic
2	47466801	AC	A	C47466803A	MSH2	NM_000251.2(MSH2):c.1656del:p.Asn553fs	coding	Pathogenic
2	47470965	CA	C	A47470968T	MSH2	NM_000251.2(MSH2):c.1665del:p.Lys555fs	coding	Pathogenic
2	47470968	A	AT	G47470971T	MSH2	NM_000251.2(MSH2):c.1667dup:p.Leu556fs	coding	Pathogenic
2	47470968	AT	A	T47470970G	MSH2	NM_000251.2(MSH2):c.1667del:p.Lys555_Leu556insTer	coding	Pathogenic
2	47470968	ATTGACTT	A	T47470969C	MSH2	NM_000251.2(MSH2):c.1666_1672del:p.Leu556_Thr557insTer	coding	Pathogenic
2	47470970	T	TA	G47470971A	MSH2	NM_000251.2(MSH2):c.1667_1668insA:p.Thr557fs	coding	Pathogenic
2	47470975	TC	T	C47470976T	MSH2	NM_000251.3(MSH2):c.1673del:p.Ser558fs	coding	Pathogenic
2	47470976	CT	C	T47470979A	MSH2	NM_000251.2(MSH2):c.1676del:p.Ser558_Leu559insTer	coding	Pathogenic
2	47470983	T	TGA	A47470986G	MSH2	NM_000251.2(MSH2):c.1681_1682dup:p.Glu562fs	coding	Pathogenic
2	47470984	GA	G	A47470986G	MSH2	NM_000251.2(MSH2):c.1683del:p.Glu562fs	coding	Pathogenic
2	47470989	G	GT	A47470991T	MSH2	NM_000251.2(MSH2):c.1687dup:p.Tyr563fs	coding	Pathogenic
2	47470994	CCA	C	C47470995A	MSH2	NM_000251.3(MSH2):c.1692_1693del:p.Lys565_Asn566insTer	coding	Pathogenic
2	47470995	CAA	C	A47470999T	MSH2	NM_000251.2(MSH2):c.1696_1697del:p.Lys565_Asn566insTer	coding	Pathogenic
2	47470995	CA	C	A47471000T	MSH2	NM_000251.2(MSH2):c.1697del:p.Asn566fs	coding	Pathogenic
2	47471001	TAAAAC	T	A47471003G	MSH2	NM_000251.2(MSH2):c.1700_1704del:p.Lys567fs	coding	Pathogenic
2	47471001	T	TA	C47471006A	MSH2	NM_000251.2(MSH2):c.1702dup:p.Thr568fs	coding	Pathogenic
2	47471006	CA	C	A47471007G	MSH2	NM_000251.3(MSH2):c.1704del:p.Glu569fs	coding	Pathogenic
2	47471006	CAG	C	G47471008A	MSH2	NM_000251.2(MSH2):c.1705_1706del:p.Glu569fs	coding	Pathogenic
2	47471006	C	CAG	A47471010G	MSH2	NM_000251.2(MSH2):c.1705_1706dup:p.Tyr570fs	coding	Pathogenic
2	47471008	G	GT	A47471009T	MSH2	NM_000251.2(MSH2):c.1705_1706insT:p.Glu569fs	coding	Pathogenic
2	47471010	AT	A	T47471011A	MSH2	NM_000251.2(MSH2):c.1708del:p.Tyr570fs	coding	Pathogenic
2	47471019	AG	A	G47471020C	MSH2	NM_000251.2(MSH2):c.1717del:p.Ala573fs	coding	Pathogenic
2	47471020	GC	G	C47471023A	MSH2	NM_000251.2(MSH2):c.1720del:p.Gln574fs	coding	Pathogenic
2	47471029	G	GC	A47471032C	MSH2	NM_000251.3(MSH2):c.1728dup:p.Ile577fs	coding	Pathogenic
2	47471046	TG	T	G47471047T	MSH2	NM_000251.2(MSH2):c.1744del:p.Val582fs	coding	Pathogenic
2	47471049	CAA	C	A47471050T	MSH2	NM_000251.2(MSH2):c.1747_1748del:p.Asn583fs	coding	Pathogenic
2	47471053	AT	A	T47471056C	MSH2	NM_000251.3(MSH2):c.1753del:p.Ser585fs	coding	Pathogenic
2	47475023	AG	A	G47475025C	MSH2	NM_000251.3(MSH2):c.1760del:p.Gly587Alafs	noncoding	Pathogenic
2	47475033	GA	G	A47475035C	MSH2	NM_000251.3(MSH2):c.1770del:p.Glu590fs	coding	Pathogenic
2	47475036	C	CA	C47475037A	MSH2	NM_000251.2(MSH2):c.1771_1772insA:p.Pro591fs	coding	Pathogenic
2	47475041	GCAGA	G	G47475044C	MSH2	NM_000251.2(MSH2):c.1779_1782del:p.Gln593fs	coding	Pathogenic
2	47475046	C	CA	C47475048A	MSH2	NM_000251.2(MSH2):c.1782dup:p.Leu595fs	coding	Pathogenic
2	47475046	C	CCT	A47475047C	MSH2	NM_000251.2(MSH2):c.1781_1782insCT:p.Leu595fs	coding	Pathogenic
2	47475048	C	CT	C47475050T	MSH2	NM_000251.2(MSH2):c.1784dup:p.Asn596fs	coding	Pathogenic
2	47475050	CAAT	C	A47475051G	MSH2	NM_000251.3(MSH2):c.1786_1788del:p.Asn596del	coding	Pathogenic
2	47475050	C	CA	T47475053A	MSH2	NM_000251.2(MSH2):c.1787dup:p.Asn596fs	coding	Pathogenic
2	47475052	ATG	A	T47475053A	MSH2	NM_000251.2(MSH2):c.1788_1789del:p.Asn596fs	coding	Pathogenic
2	47475055	ATGTGT	A	G47475057A	MSH2	NM_000251.3(MSH2):c.1792_1796del:p.Val598fs	coding	Pathogenic
2	47475057	GT	G	T47475058G	MSH2	NM_000251.2(MSH2):c.1793del:p.Val598fs	coding	Pathogenic
2	47475058	TGTTAGCTCAG	T	G47475059C	MSH2	NM_000251.2(MSH2):c.1794_1803del:p.Val598_Leu599insTer	coding	Pathogenic
2	47475059	GT	G	T47475061A	MSH2	NM_000251.2(MSH2):c.1796del:p.Val598_Leu599insTer	coding	Pathogenic
2	47475061	TAGCTC	T	C47475066A	MSH2	NM_000251.2(MSH2):c.1801_1805del:p.Gln601fs	coding	Pathogenic
2	47475067	A	AG	C47475069G	MSH2	NM_000251.2(MSH2):c.1803dup:p.Leu602fs	coding	Pathogenic
2	47475073	A	AT	G47475075T	MSH2	NM_000251.2(MSH2):c.1809dup:p.Ala604fs	coding	Pathogenic
2	47475073	AT	A	T47475074G	MSH2	NM_000251.2(MSH2):c.1809del:p.Asp603fs	coding	Pathogenic
2	47475076	C	CTGTTGTCA	G47475085T	MSH2	NM_000251.2(MSH2):c.1812_1819dup:p.Ser607fs	coding	Pathogenic
2	47475091	CT	C	T47475092C	MSH2	NM_000251.2(MSH2):c.1827del:p.His610fs	coding	Pathogenic
2	47475098	GT	G	T47475099C	MSH2	NM_000251.2(MSH2):c.1834del:p.Ser612fs	coding	Pathogenic
2	47475100	C	CA	T47475104A	MSH2	NM_000251.2(MSH2):c.1838dup:p.Asn613fs	coding	Pathogenic/Likely_pathogenic
2	47475107	AGC	A	G47475108A	MSH2	NM_000251.2(MSH2):c.1843_1844del:p.Ala615fs	coding	Pathogenic
2	47475114	G	GTT	C47475117T	MSH2	NM_000251.3(MSH2):c.1850_1851dup:p.Pro618fs	coding	Pathogenic
2	47475116	TC	T	C47475118A	MSH2	NM_000251.2(MSH2):c.1853del:p.Pro618fs	coding	Pathogenic
2	47475118	CATAT	C	A47475119G	MSH2	NM_000251.3(MSH2):c.1854_1857del:p.Val620fs	coding	Pathogenic
2	47475121	A	ATG	A47475125G	MSH2	NM_000251.2(MSH2):c.1858_1859dup:p.Arg621fs	coding	Pathogenic
2	47475131	AG	A	G47475132C	MSH2	NM_000251.2(MSH2):c.1867del:p.Ala623fs	coding	Pathogenic
2	47475146	AG	A	G47475148A	MSH2	NM_000251.2(MSH2):c.1883del:p.Gly628fs	coding	Pathogenic
2	47475150	CAAGG	C	G47475154A	MSH2	NM_000251.2(MSH2):c.1889_1892del:p.Gly630fs	coding	Pathogenic
2	47475160	TTA	T	A47475164T	MSH2	NM_000251.3(MSH2):c.1897_1898AT[1]:p.Leu634fs	coding	Pathogenic
2	47475161	T	TA	T47475163A	MSH2	NM_000251.2(MSH2):c.1897dup:p.Ile633fs	coding	Pathogenic
2	47475174	TC	T	C47475176A	MSH2	NM_000251.2(MSH2):c.1911del:p.Arg638fs	coding	Pathogenic
2	47475178	GGCAT	G	A47475181T	MSH2	NM_000251.2(MSH2):c.1916_1919del:p.His639fs	coding	Pathogenic
2	47475184	CT	C	T47475186G	MSH2	NM_000251.3(MSH2):c.1921del:p.Cys641fs	coding	Pathogenic
2	47475185	TTG	T	G47475189T	MSH2	NM_000251.2(MSH2):c.1922_1923GT[1]:p.Cys641_Val642insTer	coding	Pathogenic
2	47475189	GTTGA	TTTC	G47475189T	MSH2	NM_000251.2(MSH2):c.1924_1928delinsTTTC:p.Val642fs	coding	Pathogenic
2	47475191	TG	T	G47475192A	MSH2	NM_000251.3(MSH2):c.1927del:p.Glu643fs	coding	Pathogenic
2	47475192	G	GA	G47475195A	MSH2	NM_000251.3(MSH2):c.1929dup:p.Val644fs	coding	Pathogenic
2	47475194	AG	A	G47475195T	MSH2	NM_000251.2(MSH2):c.1930del:p.Val644fs	coding	Pathogenic
2	47475198	CA	C	A47475200G	MSH2	NM_000251.3(MSH2):c.1935del:p.Asp646fs	coding	Pathogenic
2	47475206	AATTG	A	A47475207C	MSH2	NM_000251.2(MSH2):c.1942_1945del:p.Ile648fs	coding	Pathogenic
2	47475212	A	AT	A47475216T	MSH2	NM_000251.2(MSH2):c.1950dup:p.Ile651fs	coding	Pathogenic
2	47475220	CTAATGACG	C	A47475223T	MSH2	NM_000251.2(MSH2):c.1958_1965del:p.Asn653fs	coding	Pathogenic
2	47475223	AT	A	T47475224G	MSH2	NM_000251.3(MSH2):c.1959del:p.Asn653fs	coding	Pathogenic
2	47475227	CGT	C	G47475228A	MSH2	NM_000251.2(MSH2):c.1963_1964del:p.Val655fs	coding	Pathogenic
2	47475228	GT	G	T47475229A	MSH2	NM_000251.3(MSH2):c.1964del:p.Val655fs	coding	Pathogenic
2	47475230	A	ATACT	T47475236A	MSH2	NM_000251.2(MSH2):c.1967_1970dup:p.Phe657fs	coding	Pathogenic
2	47475232	AC	A	C47475233T	MSH2	NM_000251.2(MSH2):c.1968del:p.Phe657fs	coding	Pathogenic
2	47475233	CT	AC	C47475233A	MSH2	NM_000251.3(MSH2):c.1968_1969delinsAC:p.Tyr656_Phe657delinsTer	coding	Pathogenic
2	47475243	GAT	G	T47475245A	MSH2	NM_000251.2(MSH2):c.1980_1981del:p.Asp660fs	coding	Pathogenic
2	47475245	TAAAC	T	A47475247G	MSH2	NM_000251.2(MSH2):c.1982_1985del:p.Lys661fs	coding	Pathogenic
2	47475247	AAC	A	C47475249G	MSH2	NM_000251.2(MSH2):c.1984_1985del:p.Gln662fs	coding	Pathogenic
2	47475249	CAG	C	G47475251T	MSH2	NM_000251.2(MSH2):c.1986_1987del:p.Gln662fs	coding	Pathogenic
2	47475249	C	CA	G47475251A	MSH2	NM_000251.3(MSH2):c.1985dup:p.Met663fs	coding	Pathogenic
2	47475250	AG	A	G47475251A	MSH2	NM_000251.2(MSH2):c.1986del:p.Met663fs	coding	Pathogenic
2	47475256	TC	T	C47475258A	MSH2	NM_000251.3(MSH2):c.1993del:p.His665fs	coding	Pathogenic
2	47475260	CAT	C	A47475261C	MSH2	NM_000251.2(MSH2):c.1996_1997del:p.Ile666fs	coding	Pathogenic
2	47475267	AC	A	C47475268T	MSH2	NM_000251.3(MSH2):c.2003del:p.Thr668fs	coding	Pathogenic
2	47475269	T	CA	T47475269C	MSH2	NM_000251.2(MSH2):c.2004delinsCA:p.Gly669fs	coding	Pathogenic
2	47475312	G	GTTT	A47475332T	MSH2	NM_000251.3(MSH2):c.2005+59_2005+61dup	noncoding	Benign
2	47475521	GCATTTAGAAACAAACATCCCTTCACACTCAAAGCTTACCTTTGAGCCAGTCCTCCAATAGTGAGGTCTTTGAAGGTCAGGCCAAATTGGCTGTGGGAGGACCTCAGGTTAGGATAGGAATTATTTTAAGACATGGCACTATATTCATGTGAAACTCGCAAAAACTAGCCTTGCATATAGGCTCATGTATCATGTCTCAGCTGAGATGTTTGAGAGATCTTAACTAGATTCTAGAAAACAAAAAAGGAAGTAGTTTTGGGGCAAATATATTTGGGAAACAGTTTATTGTATTTCCTTTCCCCAAATGGATTTTCAAGTTCTTCATATAATCTAACCCCAACAAATAAATTGCCTGTTTTTCAAAAGAAAGATCATGTCTTCAGGTTTTTGTGTGGGGTTTAAATGATTCGAAAGATTTGACCATACTGATACATTCACTAGTAACCTTAGTTACTAATGAGTAATGGTTTTGAGTTAATCAGTTAGGCCTGAACTACTTTTCTGGAAGTTAGTAAATTATCTCACAGGCAGCCCTGTGAGCCATGGGAAAATGTGTATATGGTCTTTCTAGGCCACAGTCAAATTACAGGTATATTTGTCATGGCTTCTCTTGATGAAAGGCCCAGTATCGGTTTGTCTGAAGATATATAATAGCATTGCTTTTGGGGGTAATATGGGCAGTAACTCTGTCCACATCTTTGGGCAGGCTGTGGTTCTGCCTTTATATGCTATGTCAGTGTAAACCTACGCGATTAATCATCAGTGTACAGTTTAGGACTAACAATCCATTTATTAGTAGCAGAAAGAAGTTTAAAATCTTGCTTTCTGATATAATTTGTTTTGTAGGCCCCAATATGGGAGGTAAATCAACATATATTCGACAAACTGGGGTGATAGTACTCATGGCCCAAATTGGGTGTTTTGTGC	G	T47475525G	MSH2	NM_000251.3(MSH2):c.2005+255_2089del	noncoding	Pathogenic
2	47476367	GC	G	C47476371A	MSH2	NM_000251.2(MSH2):c.2010del:p.Asn671fs	coding	Pathogenic
2	47476367	G	GC	A47476372C	MSH2	NM_000251.3(MSH2):c.2010dup:p.Asn671fs	coding	Pathogenic
2	47476373	AT	A	T47476374A	MSH2	NM_000251.2(MSH2):c.2013del:p.Asn671fs	coding	Pathogenic
2	47476375	AT	A	T47476376G	MSH2	NM_000251.2(MSH2):c.2015del:p.Met672fs	coding	Pathogenic
2	47476381	GGT	G	G47476382A	MSH2	NM_000251.2(MSH2):c.2021_2022del:p.Gly674fs	coding	Pathogenic
2	47476391	CAT	C	A47476396T	MSH2	NM_000251.2(MSH2):c.2031_2032AT[2]:p.Ile679fs	coding	Pathogenic
2	47476406	CTG	C	T47476407G	MSH2	NM_000251.2(MSH2):c.2046_2047del:p.Val684fs	coding	Pathogenic
2	47476406	CTG	TT	C47476406T	MSH2	NM_000251.2(MSH2):c.2045_2047delinsTT:p.Thr682fs	coding	Pathogenic
2	47476408	G	GGGGTGATAGTACTCATGGCCCAAATTGGGTGTTTTGTGCCATGTGAGTCAGCAGAAGTGTCCAT	T47476473G	MSH2	NM_000251.2(MSH2):c.2048_2111dup:p.Ile704Metfs	coding	Pathogenic
2	47476412	T	TG	A47476414G	MSH2	NM_000251.3(MSH2):c.2052dup:p.Ile685fs	coding	Pathogenic
2	47476420	CT	C	T47476421C	MSH2	NM_000251.3(MSH2):c.2060del:p.Leu687fs	coding	Pathogenic
2	47476429	C	CA	T47476433A	MSH2	NM_000251.2(MSH2):c.2071dup:p.Ile691fs	coding	Pathogenic
2	47476432	ATTGGGTGT	A	G47476435T	MSH2	NM_000251.2(MSH2):c.2074_2081del:p.Gly692fs	coding	Pathogenic
2	47476439	GT	G	T47476443G	MSH2	NM_000251.2(MSH2):c.2082del:p.Phe694fs	coding	Pathogenic
2	47476443	TGT	AG	T47476443A	MSH2	NM_000251.3(MSH2):c.2082_2084delinsAG:p.Phe694fs	coding	Pathogenic
2	47476445	T	TG	C47476447G	MSH2	NM_000251.2(MSH2):c.2085dup:p.Pro696fs	coding	Pathogenic
2	47476460	CA	C	A47476461G	MSH2	NM_000251.2(MSH2):c.2100del:p.Glu701fs	coding	Pathogenic
2	47476473	TG	T	G47476474T	MSH2	NM_000251.2(MSH2):c.2113del:p.Val705fs	coding	Pathogenic
2	47476475	TG	T	G47476477A	MSH2	NM_000251.2(MSH2):c.2116del:p.Asp706fs	coding	Pathogenic
2	47476488	AG	A	G47476489C	MSH2	NM_000251.2(MSH2):c.2128del:p.Ala710fs	coding	Pathogenic
2	47476495	G	GT	A47476497T	MSH2	NM_000251.2(MSH2):c.2135dup:p.Gly713fs	coding	Pathogenic
2	47476501	G	GC	T47476503C	MSH2	NM_000251.2(MSH2):c.2141dup:p.Gly715fs	coding	Pathogenic
2	47476505	GT	G	T47476506G	MSH2	NM_000251.2(MSH2):c.2145del:p.Asp716fs	coding	Pathogenic
2	47476508	AC	A	C47476509A	MSH2	NM_000251.2(MSH2):c.2148del:p.Asp716fs	coding	Pathogenic
2	47476508	ACAGT	A	G47476511A	MSH2	NM_000251.2(MSH2):c.2150_2153del:p.Ser717fs	coding	Pathogenic
2	47476513	CA	C	A47476515T	MSH2	NM_000251.3(MSH2):c.2154del:p.Gln718fs	coding	Pathogenic
2	47476515	A	AT	G47476518T	MSH2	NM_000251.3(MSH2):c.2156dup:p.Leu719fs	coding	Pathogenic
2	47476519	AAAGG	A	A47476521G	MSH2	NM_000251.2(MSH2):c.2160_2163del:p.Gly721fs	coding	Pathogenic
2	47476527	C	CT	C47476529T	MSH2	NM_000251.2(MSH2):c.2167dup:p.Ser723fs	coding	Pathogenic
2	47476538	TG	T	G47476540C	MSH2	NM_000251.3(MSH2):c.2179del:p.Ala727fs	coding	Pathogenic
2	47476564	AT	A	T47476565C	MSH2	NM_000251.2(MSH2):c.2204del:p.Ile735fs	coding	Pathogenic
2	47478280	C	CCAAA	G47478285C	MSH2	NM_000251.3(MSH2):c.2220_2223dup:p.Asp742fs	coding	Pathogenic
2	47478281	CAA	C	A47478283G	MSH2	NM_000251.3(MSH2):c.2222_2223del:p.Lys741fs	coding	Pathogenic
2	47478285	GATTC	G	C47478289A	MSH2	NM_000251.2(MSH2):c.2228_2231del:p.Asp742_Ser743insTer	coding	Pathogenic
2	47478295	T	TA	T47478298A	MSH2	NM_000251.2(MSH2):c.2236dup:p.Ile746fs	coding	Pathogenic
2	47478298	TC	T	C47478299A	MSH2	NM_000251.3(MSH2):c.2238del:p.Ile746_Ile747insTer	coding	Pathogenic
2	47478298	T	TA	C47478299A	MSH2	NM_000251.2(MSH2):c.2237_2238insA:p.Ile747fs	coding	Pathogenic
2	47478299	CAT	C	T47478301G	MSH2	NM_000251.2(MSH2):c.2240_2241del:p.Ile747fs	coding	Pathogenic
2	47478304	ATGAAT	A	A47478307G	MSH2	NM_000251.2(MSH2):c.2246_2250del:p.Glu749fs	coding	Pathogenic
2	47478321	AC	A	C47478322T	MSH2	NM_000251.2(MSH2):c.2261del:p.Thr754fs	coding	Pathogenic
2	47478328	C	CGTAG	C47478329G	MSH2	NM_000251.2(MSH2):c.2267_2268insGTAG:p.Tyr757_Asp758insTer	coding	Pathogenic
2	47478329	C	CT	A47478331T	MSH2	NM_000251.2(MSH2):c.2269dup:p.Tyr757fs	coding	Pathogenic
2	47478330	TAC	T	A47478331G	MSH2	NM_000251.3(MSH2):c.2270_2271del:p.Thr756_Tyr757insTer	coding	Pathogenic
2	47478341	TG	T	G47478344T	MSH2	NM_000251.2(MSH2):c.2283del:p.Gly761_Leu762insTer	coding	Pathogenic
2	47478350	AT	A	T47478351G	MSH2	NM_000251.2(MSH2):c.2290del:p.Trp764fs	coding	Pathogenic
2	47478354	GC	G	C47478355T	MSH2	NM_000251.2(MSH2):c.2294del:p.Ala765fs	coding	Pathogenic
2	47478355	CT	C	T47478356A	MSH2	NM_000251.2(MSH2):c.2295del:p.Ile766fs	coding	Pathogenic
2	47478356	T	TTA	A47478357T	MSH2	NM_000251.2(MSH2):c.2295_2296insTA:p.Ile766Ter	coding	Pathogenic
2	47478357	AT	A	T47478358A	MSH2	NM_000251.2(MSH2):c.2297del:p.Ile766fs	coding	Pathogenic
2	47478359	AT	A	T47478360C	MSH2	NM_000251.3(MSH2):c.2299del:p.Ser767fs	coding	Pathogenic
2	47478365	AT	A	T47478366A	MSH2	NM_000251.2(MSH2):c.2305del:p.Tyr769fs	coding	Pathogenic
2	47478373	CA	C	A47478375C	MSH2	NM_000251.2(MSH2):c.2314del:p.Thr772fs	coding	Pathogenic
2	47478388	C	CT	G47478394T	MSH2	NM_000251.3(MSH2):c.2332dup:p.Cys778fs	coding	Pathogenic
2	47478388	CT	C	T47478393G	MSH2	NM_000251.3(MSH2):c.2332del:p.Cys778fs	coding	Pathogenic
2	47478394	GC	T	G47478394T	MSH2	NM_000251.2(MSH2):c.2333_2334delinsT:p.Cys778fs	coding	Pathogenic
2	47478395	C	CA	T47478397A	MSH2	NM_000251.2(MSH2):c.2335dup:p.Met779fs	coding	Pathogenic
2	47478405	AC	A	C47478408A	MSH2	NM_000251.2(MSH2):c.2347del:p.His783fs	coding	Pathogenic
2	47478409	AT	A	T47478413C	MSH2	NM_000251.3(MSH2):c.2352del:p.His785fs	coding	Pathogenic
2	47478420	C	CT	A47478423T	MSH2	NM_000251.2(MSH2):c.2361dup:p.Thr788fs	coding	Pathogenic
2	47478420	C	CTT	A47478423T	MSH2	NM_000251.2(MSH2):c.2360_2361dup:p.Thr788fs	coding	Pathogenic
2	47478422	T	TA	C47478424A	MSH2	NM_000251.2(MSH2):c.2362dup:p.Thr788fs	coding	Pathogenic
2	47478428	CT	C	T47478430G	MSH2	NM_000251.2(MSH2):c.2369del:p.Leu790fs	coding	Pathogenic
2	47478440	G	GATACC	A47478447T	MSH2	NM_000251.2(MSH2):c.2381_2385dup:p.Thr796fs	coding	Pathogenic
2	47478442	TA	T	A47478443C	MSH2	NM_000251.3(MSH2):c.2382del:p.Pro795fs	coding	Pathogenic
2	47478448	CT	C	T47478449G	MSH2	NM_000251.3(MSH2):c.2388del:p.Val797fs	coding	Pathogenic
2	47478448	CTG	C	G47478450T	MSH2	NM_000251.3(MSH2):c.2389_2390del:p.Thr796_Val797insTer	coding	Pathogenic
2	47478452	TAATAATC	G	T47478452G	MSH2	NM_000251.3(MSH2):c.2391_2398delinsG:p.Asn798fs	coding	Pathogenic
2	47478452	TAATA	T	A47478454T	MSH2	NM_000251.2(MSH2):c.2393_2396del:p.Asn798fs	coding	Pathogenic
2	47478455	TAATC	T	A47478456T	MSH2	NM_000251.3(MSH2):c.2395_2398del:p.Asn799fs	coding	Pathogenic
2	47478466	TCA	T	C47478469G	MSH2	NM_000251.2(MSH2):c.2406_2407CA[1]:p.Thr803fs	coding	Pathogenic
2	47478473	A	AC	T47478475C	MSH2	NM_000251.2(MSH2):c.2413dup:p.Leu805fs	coding	Pathogenic
2	47478477	A	AC	A47478480C	MSH2	NM_000251.2(MSH2):c.2418dup:p.Thr807fs	coding	Pathogenic
2	47478482	TG	CT	T47478482C	MSH2	NM_000251.2(MSH2):c.2421_2422delinsCT:p.Glu808Ter	coding	Pathogenic
2	47478487	A	AG	A47478489G	MSH2	NM_000251.2(MSH2):c.2427dup:p.Thr810fs	coding	Pathogenic
2	47480689	CTTATA	C	T47480690G	MSH2	NM_000251.2(MSH2):c.2459-6_2459-2del	noncoding	Pathogenic/Likely_pathogenic
2	47480695	GGT	G	G47480698C	MSH2	NM_000251.2(MSH2):c.2459_2460GT[1]:p.Val821fs	coding	Pathogenic
2	47480700	CTG	C	T47480703A	MSH2	NM_000251.3(MSH2):c.2466_2467del:p.Cys822_Asp823delinsTer	coding	Pathogenic
2	47480707	CAA	C	A47480709G	MSH2	NM_000251.2(MSH2):c.2472_2473del:p.Ser825fs	coding	Pathogenic
2	47480710	AG	A	G47480711T	MSH2	NM_000251.3(MSH2):c.2474del:p.Ser825fs	coding	Pathogenic
2	47480715	TG	T	G47480718A	MSH2	NM_000251.3(MSH2):c.2481del:p.Ile828fs	coding	Pathogenic
2	47480719	A	AT	C47480722T	MSH2	NM_000251.2(MSH2):c.2484dup:p.His829fs	coding	Pathogenic
2	47480720	T	TTCATGTTGCAGAGC	T47480736C	MSH2	NM_000251.2(MSH2):c.2485_2498dup:p.Ala834fs	coding	Pathogenic
2	47480721	TC	T	C47480722A	MSH2	NM_000251.2(MSH2):c.2485del:p.His829fs	coding	Pathogenic
2	47480737	GCTAATTT	G	T47480739C	MSH2	NM_000251.2(MSH2):c.2502_2508del:p.Asn835fs	coding	Pathogenic
2	47480741	AT	A	T47480744C	MSH2	NM_000251.2(MSH2):c.2507del:p.Phe836fs	coding	Pathogenic
2	47480756	TA	T	A47480758T	MSH2	NM_000251.2(MSH2):c.2521del:p.Val840_Ile841insTer	coding	Pathogenic
2	47480757	AA	T	A47480757T	MSH2	NM_000251.2(MSH2):c.2520_2521delinsT:p.Val840_Ile841insTer	coding	Pathogenic
2	47480759	TAG	T	A47480762T	MSH2	NM_001258281.1(MSH2):c.2325_2326AG[1]:p.Glu776fs	coding	Pathogenic
2	47480759	T	TA	G47480761A	MSH2	NM_000251.2(MSH2):c.2523dup:p.Glu842fs	coding	Pathogenic
2	47480762	AGT	A	T47480766C	MSH2	NM_000251.2(MSH2):c.2527_2528TG[1]:p.Cys843_Ala844insTer	coding	Pathogenic
2	47480768	C	CT	A47480770T	MSH2	NM_000251.2(MSH2):c.2532dup:p.Lys845Ter	coding	Pathogenic
2	47480779	GC	G	C47480782T	MSH2	NM_000251.2(MSH2):c.2545del:p.Leu849fs	coding	Pathogenic
2	47480788	C	CCA	T47480789C	MSH2	NM_000251.2(MSH2):c.2551_2552insCA:p.Leu851fs	coding	Pathogenic
2	47480796	GT	G	T47480799C	MSH2	NM_000251.2(MSH2):c.2562del:p.Gln855fs	coding	Pathogenic/Likely_pathogenic
2	47480820	A	AG	A47480823G	MSH2	NM_000251.2(MSH2):c.2585dup:p.Tyr863fs	coding	Pathogenic
2	47480824	T	TA	T47480826A	MSH2	NM_000251.2(MSH2):c.2588dup:p.Tyr863Ter	coding	Pathogenic/Likely_pathogenic
2	47480827	GATATC	G	A47480830G	MSH2	NM_000251.2(MSH2):c.2593_2597del:p.Ile865fs	coding	Pathogenic
2	47480829	T	TA	T47480831A	MSH2	NM_000251.2(MSH2):c.2593dup:p.Ile865fs	coding	Pathogenic
2	47480863	GA	G	A47480866G	MSH2	NM_000251.2(MSH2):c.2629del:p.Arg877fs	coding	Pathogenic
2	47480865	AAG	A	A47480870G	MSH2	NM_000251.3(MSH2):c.2629_2630AG[2]:p.Glu878fs	coding	Pathogenic
2	47482780	AAGGTGAAAAAATTATTC	A	T47482784A	MSH2	NM_000251.2(MSH2):c.2640_2656del:p.Glu881fs	coding	Pathogenic
2	47482782	G	GGT	A47482786T	MSH2	NM_000251.3(MSH2):c.2640_2641dup:p.Glu881fs	coding	Pathogenic
2	47482785	GA	G	A47482791T	MSH2	NM_000251.2(MSH2):c.2647del:p.Ile883fs	coding	Pathogenic
2	47482785	G	GA	T47482792A	MSH2	NM_000251.2(MSH2):c.2647dup:p.Ile883fs	coding	Pathogenic
2	47482804	TC	T	C47482806T	MSH2	NM_000251.2(MSH2):c.2662del:p.Leu888fs	coding	Pathogenic
2	47783238	CGCGACAGA	C	G47783241A	MSH6	NM_000179.3(MSH6):c.8_15del:p.Arg3fs	coding	Pathogenic
2	47783239	GC	CT	G47783239C	MSH6	NM_001281493.1(MSH6):c.-731_-730delinsCT	coding	Pathogenic
2	47783290	T	TG	C47783292G	MSH6	NM_000179.2(MSH6):c.58dup:p.Ala20fs	coding	Pathogenic
2	47783309	AG	A	G47783312C	MSH6	NM_001281493.1(MSH6):c.-658del	coding	Pathogenic
2	47783312	GCCTC	G	C47783313A	MSH6	NM_000179.3(MSH6):c.80_83del:p.Ala27fs	coding	Pathogenic
2	47783315	TCA	T	A47783317G	MSH6	NM_001281493.1(MSH6):c.-653_-652del	coding	Pathogenic
2	47783328	GC	G	C47783330G	MSH6	NM_000179.3(MSH6):c.97del:p.Arg33fs	coding	Pathogenic
2	47783333	GCCGCCGCTGCC	G	G47783336C	MSH6	NM_000179.2(MSH6):c.103_113del:p.Ala35fs	coding	Pathogenic
2	47783342	GC	G	C47783347G	MSH6	NM_000179.3(MSH6):c.114del:p.Ala40fs	coding	Pathogenic
2	47783376	C	CGGCCTGGAGCGAGGCTG	G47783401A	MSH6	NM_001281493.1(MSH6):c.-586_-570dup	coding	Pathogenic
2	47783395	GCCTGGGCCCAGGCC	G	C47783397T	MSH6	NM_000179.2(MSH6):c.164_177del:p.Pro55fs	coding	Pathogenic
2	47783399	GGGCCCAGGCCCTT	G	C47783403G	MSH6	NM_001281493.1(MSH6):c.-567_-555del	coding	Pathogenic
2	47783401	GC	G	C47783404A	MSH6	NM_000179.2(MSH6):c.171del:p.Arg58fs	coding	Pathogenic
2	47783465	A	AGATCGGTAGCGCCTGCTGCCCC	C47783488G	MSH6	NM_001281492.1(MSH6):c.233_237+17dup	coding	Pathogenic
2	47783478	C	CT	G47783480T	MSH6	NM_000179.3(MSH6):c.246dup:p.Ala83fs	coding	Pathogenic
2	47783483	GC	G	C47783488A	MSH6	NM_001281492.1(MSH6):c.237+18del	coding	Pathogenic
2	47783483	G	GC	A47783489C	MSH6	NM_000179.3(MSH6):c.255dup:p.Thr86fs	coding	Pathogenic
2	47783495	TA	AG	T47783495A	MSH6	NM_000179.2(MSH6):c.260+2_260+3delinsAG	noncoding	Pathogenic/Likely_pathogenic
2	47790954	TTGGGCCAAGA	T	G47790958A	MSH6	NM_000179.3(MSH6):c.292_301del:p.Ala98fs	coding	Pathogenic
2	47790978	CT	C	T47790979G	MSH6	NM_000179.3(MSH6):c.313del:p.Trp105fs	coding	Pathogenic
2	47791015	G	GGAAC	A47791020G	MSH6	NM_001281492.1(MSH6):c.237+7546_237+7549dup	coding	Pathogenic
2	47791019	CAT	C	A47791020T	MSH6	NM_000179.3(MSH6):c.354_355del:p.Phe119fs	coding	Pathogenic
2	47791020	A	AT	C47791023T	MSH6	NM_000179.2(MSH6):c.356dup:p.Ile120fs	coding	Pathogenic
2	47791040	AATCAGTCC	T	A47791040T	MSH6	NM_001281492.1(MSH6):c.237+7570_238-7563delinsT	coding	Pathogenic
2	47791058	TACAGTTTTTTGATG	T	T47791063C	MSH6	NM_001281492.1(MSH6):c.238-7548_238-7535del	coding	Pathogenic
2	47791058	TAC	T	C47791060G	MSH6	NM_000179.3(MSH6):c.394_395del:p.Gln132fs	coding	Pathogenic
2	47791062	G	GT	G47791069T	MSH6	NM_001281492.1(MSH6):c.238-7543dup	coding	Pathogenic
2	47791084	AG	A	G47791088C	MSH6	NM_001281492.1(MSH6):c.238-7523del	coding	Pathogenic
2	47791088	GC	G	C47791089T	MSH6	NM_001281492.1(MSH6):c.238-7522del	coding	Pathogenic
2	47791105	CTT	C	T47791108A	MSH6	NM_001281492.1(MSH6):c.238-7503_238-7502del	coding	Pathogenic
2	47795903	CAAAG	C	A47795904G	MSH6	NM_000179.2(MSH6):c.468_471del:p.Glu158fs	coding	Pathogenic
2	47795903	C	CAA	G47795907A	MSH6	NM_001281492.1(MSH6):c.238-2706_238-2705dup	coding	Pathogenic
2	47795927	A	AT	A47795933T	MSH6	NM_001281492.1(MSH6):c.238-2679dup	coding	Pathogenic
2	47795951	TACTG	T	C47795953G	MSH6	NM_000179.2(MSH6):c.517_520del:p.Leu173fs	coding	Pathogenic/Likely_pathogenic
2	47795954	TGA	T	A47795958C	MSH6	NM_001281492.1(MSH6):c.238-2653_238-2652del	coding	Pathogenic
2	47795959	GC	G	C47795960A	MSH6	NM_000179.3(MSH6):c.524del:p.Ala175fs	coding	Pathogenic
2	47795964	G	GC	A47795966C	MSH6	NM_000179.3(MSH6):c.529dup:p.Gln177fs	coding	Pathogenic
2	47795983	TTAAA	T	T47795988G	MSH6	NM_001281492.1(MSH6):c.238-2623_238-2620del	coding	Pathogenic
2	47795998	A	AT	A47796001T	MSH6	NM_000179.3(MSH6):c.564dup:p.Lys189Ter	coding	Pathogenic
2	47796012	AT	A	T47796014G	MSH6	NM_000179.2(MSH6):c.578del:p.Leu193fs	coding	Pathogenic
2	47796030	GC	G	C47796033T	MSH6	NM_000179.2(MSH6):c.597del:p.Ser200fs	coding	Pathogenic
2	47796035	CAG	C	A47796038C	MSH6	NM_001281492.1(MSH6):c.238-2573_238-2572del	coding	Pathogenic
2	47796060	GGAGGTGGGACACGGCAA	G	A47796062C	MSH6	NM_000179.2(MSH6):c.626_627+15del	coding	Pathogenic
2	47796084	AGTT	A	G47796088A	MSH6	NM_000179.2(MSH6):c.627+25_627+27del	noncoding	Benign
2	47798612	TAGGC	T	G47798614C	MSH6	NM_001281493.1(MSH6):c.-276_-273del	coding	Pathogenic
2	47798625	CG	C	G47798626T	MSH6	NM_001281493.1(MSH6):c.-264del	coding	Pathogenic
2	47798626	G	GT	A47798628T	MSH6	NM_000179.3(MSH6):c.644dup:p.Thr216fs	coding	Pathogenic
2	47798630	CAGATA	C	T47798634G	MSH6	NM_000179.3(MSH6):c.651_655del:p.Asp217fs	coding	Pathogenic
2	47798633	A	AT	A47798635T	MSH6	NM_001281493.1(MSH6):c.-256dup	coding	Pathogenic
2	47798646	AGATA	TAC	A47798646T	MSH6	NM_001281493.1(MSH6):c.-244_-240delinsTAC	coding	Pathogenic
2	47798669	AG	A	G47798671A	MSH6	NM_000179.3(MSH6):c.688del:p.Glu230fs	coding	Pathogenic
2	47798674	GTACAGCC	G	C47798677A	MSH6	NM_001281493.1(MSH6):c.-213_-207del	coding	Pathogenic
2	47798679	GCC	G	C47798680T	MSH6	NM_001281493.1(MSH6):c.-210_-209del	coding	Pathogenic
2	47798679	GCCTAAGACACAAGGAT	G	C47798681T	MSH6	NM_001281493.1(MSH6):c.-209_-194del	coding	Pathogenic
2	47798679	G	GC	T47798682C	MSH6	NM_001281493.1(MSH6):c.-209dup	coding	Pathogenic
2	47798682	TAAGACAC	T	A47798686G	MSH6	NM_001281493.1(MSH6):c.-204_-198del	coding	Pathogenic
2	47798685	GAC	G	C47798689A	MSH6	NM_001281493.1(MSH6):c.-203_-202CA[1]	coding	Pathogenic
2	47798685	G	GT	A47798686T	MSH6	NM_000179.2(MSH6):c.702_703insT:p.Thr235fs	coding	Pathogenic
2	47798691	AG	A	G47798693A	MSH6	NM_001281493.1(MSH6):c.-197del	coding	Pathogenic
2	47798705	G	GT	A47798707T	MSH6	NM_001281493.1(MSH6):c.-184dup	coding	Pathogenic
2	47798717	TAAAA	T	A47798721C	MSH6	NM_000179.3(MSH6):c.738_741del:p.Lys246fs	coding	Pathogenic
2	47798717	TA	T	A47798724C	MSH6	NM_000179.2(MSH6):c.741del:p.Lys247fs	coding	Pathogenic
2	47798717	T	TA	C47798725A	MSH6	NM_001281493.1(MSH6):c.-166dup	coding	Pathogenic/Likely_pathogenic
2	47798721	A	AT	A47798722T	MSH6	NM_000179.2(MSH6):c.738_739insT:p.Lys247Ter	coding	Pathogenic
2	47798724	A	AC	G47798726C	MSH6	NM_000179.3(MSH6):c.742dup:p.Arg248fs	coding	Pathogenic
2	47798724	AC	A	C47798725G	MSH6	NM_000179.2(MSH6):c.742del:p.Arg248fs	coding	Pathogenic
2	47798738	CAG	C	G47798740T	MSH6	NM_000179.3(MSH6):c.757_758del:p.Asp253fs	coding	Pathogenic
2	47798744	C	CT	G47798746T	MSH6	NM_000179.3(MSH6):c.762dup:p.Glu255Ter	coding	Pathogenic
2	47798744	CTG	C	T47798745A	MSH6	NM_001281493.1(MSH6):c.-145_-144del	coding	Pathogenic
2	47798745	TGA	T	A47798749T	MSH6	NM_001281493.1(MSH6):c.-143_-142AG[1]	coding	Pathogenic
2	47798757	T	TG	T47798760G	MSH6	NM_000179.3(MSH6):c.776dup:p.Gly260fs	coding	Pathogenic
2	47798790	TA	T	A47798792G	MSH6	NM_001281493.1(MSH6):c.-98del	coding	Pathogenic
2	47798820	C	CAGTGG	G47798831A	MSH6	NM_001281493.1(MSH6):c.-69_-65AGTGG[3]	coding	Pathogenic
2	47798827	G	GT	G47798829T	MSH6	NM_001281493.1(MSH6):c.-62dup	coding	Pathogenic
2	47798828	T	TG	A47798834G	MSH6	NM_001281493.1(MSH6):c.-57dup	coding	Pathogenic
2	47798833	G	GC	A47798834C	MSH6	NM_000179.2(MSH6):c.850_851insC:p.Asp284fs	coding	Pathogenic
2	47798835	T	TA	G47798837A	MSH6	NM_001281493.1(MSH6):c.-54dup	coding	Pathogenic
2	47798846	AAG	A	A47798847G	MSH6	NM_001281493.1(MSH6):c.-43_-42del	coding	Pathogenic
2	47798854	AAC	A	C47798856G	MSH6	NM_001281493.1(MSH6):c.-34_-33del	coding	Pathogenic
2	47798861	CTG	T	C47798861T	MSH6	NM_000179.2(MSH6):c.878_880delinsT:p.Pro293Leufs	coding	Pathogenic
2	47798861	CTGTCA	TTCG	C47798861T	MSH6	NM_001281493.1(MSH6):c.-29_-24delinsTTCG	coding	Pathogenic
2	47798865	C	CA	G47798869A	MSH6	NM_000179.3(MSH6):c.885dup:p.Val296fs	coding	Pathogenic
2	47798876	GA	G	A47798879G	MSH6	NM_001281493.1(MSH6):c.-11del	coding	Pathogenic
2	47798881	C	CG	A47798884G	MSH6	NM_001281493.1(MSH6):c.-7dup	coding	Pathogenic
2	47798888	GAA	G	A47798889T	MSH6	NM_001281493.1(MSH6):c.-1_1del:p.Met1fs	coding	Pathogenic
2	47798890	A	AT	G47798892T	MSH6	NM_000179.2(MSH6):c.908dup:p.Met303fs	coding	Pathogenic/Likely_pathogenic
2	47798934	GGAAACGCCCTC	G	G47798935A	MSH6	NM_000179.3(MSH6):c.952_962del:p.Glu318fs	coding	Pathogenic
2	47798968	A	AT	C47798972T	MSH6	NM_000179.2(MSH6):c.988dup:p.Ser330fs	coding	Pathogenic
2	47798980	AC	A	C47798982A	MSH6	NM_000179.2(MSH6):c.999del:p.Lys334fs	coding	Pathogenic
2	47798992	T	TTG	A47798995T	MSH6	NM_000179.3(MSH6):c.1010_1011dup:p.Arg338Ter	coding	Pathogenic
2	47799022	G	GC	A47799023C	MSH6	NM_000179.2(MSH6):c.1039_1040insC:p.Glu347fs	coding	Pathogenic
2	47799039	TAGTGG	T	T47799042G	MSH6	NM_000179.2(MSH6):c.1059_1063del:p.Ser353fs	coding	Pathogenic
2	47799041	G	GT	G47799043T	MSH6	NM_000179.2(MSH6):c.1059dup:p.Gly354fs	coding	Pathogenic
2	47799065	GC	G	C47799068T	MSH6	NM_001281492.1(MSH6):c.695del:p.Pro232fs	coding	Pathogenic
2	47799075	T	TTGGTATC	A47799083T	MSH6	NM_000179.3(MSH6):c.1093_1099dup:p.His367fs	coding	Pathogenic
2	47799083	AT	A	T47799084G	MSH6	NM_001281492.1(MSH6):c.711del:p.His237fs	coding	Pathogenic
2	47799084	T	TGAAACTTTAGAATGGCTTAAGGAGGAAAAGAGAAGAGATGAGCACAGGAGGAGGCCTGATC	A47799146G	MSH6	NM_000179.2(MSH6):c.1102_1162dup:p.His388delinsArgAsnPheArgMetAlaTer	coding	Pathogenic
2	47799089	CTT	C	T47799091A	MSH6	NM_000179.2(MSH6):c.1108_1109delTT:p.Leu370Argfs	coding	Pathogenic/Likely_pathogenic
2	47799108	GGAAAA	G	A47799111G	MSH6	NM_000179.2(MSH6):c.1128_1132del:p.Arg378_Arg379insTer	coding	Pathogenic/Likely_pathogenic
2	47799109	GAA	G	A47799112G	MSH6	NM_000179.2(MSH6):c.1129_1130del:p.Lys377fs	coding	Pathogenic
2	47799111	AAAGAG	A	A47799118T	MSH6	NM_001281492.1(MSH6):c.740_744AGAGA[1]:p.Arg248_Arg249insTer	coding	Pathogenic
2	47799116	GAA	G	A47799117G	MSH6	NM_000179.2(MSH6):c.1134_1135del:p.Arg379_Asp380insTer	coding	Pathogenic
2	47799118	AGAGAT	A	A47799122C	MSH6	NM_001281492.1(MSH6):c.749_753del:p.Asp250fs	coding	Pathogenic
2	47799127	CA	C	A47799128C	MSH6	NM_000179.3(MSH6):c.1145del:p.His382fs	coding	Pathogenic
2	47799141	TG	T	G47799142A	MSH6	NM_000179.3(MSH6):c.1159del:p.Asp387fs	coding	Pathogenic
2	47799150	CG	C	G47799151A	MSH6	NM_000179.2(MSH6):c.1168del:p.Asp390fs	coding	Pathogenic
2	47799151	GAT	AA	G47799151A	MSH6	NM_001281492.1(MSH6):c.778_780delinsAA:p.Asp260fs	coding	Pathogenic/Likely_pathogenic
2	47799159	TGC	GGAA	T47799159G	MSH6	NM_000179.2(MSH6):c.1176_1178delinsGGAA:p.Asp392fs	coding	Pathogenic
2	47799162	A	ATCTACAC	T47799174C	MSH6	NM_000179.3(MSH6):c.1184_1190dup:p.Val398fs	coding	Pathogenic
2	47799165	TAC	T	A47799168T	MSH6	NM_000179.3(MSH6):c.1183_1184AC[1]:p.Tyr397fs	coding	Pathogenic
2	47799170	TCTATGTGCCTGAGGATTTCC	T	C47799171T	MSH6	NM_000179.3(MSH6):c.1188_1207del:p.Tyr397fs	coding	Pathogenic
2	47799171	C	CGA	T47799172G	MSH6	NM_000179.3(MSH6):c.1188_1189insGA:p.Tyr397fs	coding	Pathogenic
2	47799171	C	CT	A47799173T	MSH6	NM_000179.2(MSH6):c.1189dup:p.Tyr397fs	coding	Pathogenic
2	47799171	C	CTA	G47799175A	MSH6	NM_000179.2(MSH6):c.1190_1191dup:p.Val398fs	coding	Pathogenic
2	47799171	CTA	C	A47799173G	MSH6	NM_001281492.1(MSH6):c.800_801del:p.Tyr267fs	coding	Pathogenic
2	47799181	GAGGATTTCCTCAATTCTTGTA	TCATC	G47799181T	MSH6	NM_000179.2(MSH6):c.1198_1219delinsTCATC:p.Glu400fs	coding	Pathogenic
2	47799204	TCCTGG	T	C47799205G	MSH6	NM_000179.3(MSH6):c.1222_1226del:p.Pro408fs	coding	Pathogenic
2	47799204	TC	T	C47799206T	MSH6	NM_000179.2(MSH6):c.1223del:p.Pro408fs	coding	Pathogenic
2	47799229	A	AT	A47799232T	MSH6	NM_000179.3(MSH6):c.1248dup:p.Lys417Ter	coding	Pathogenic
2	47799234	GTCTCAGAACTTTGA	G	C47799238T	MSH6	NM_000179.2(MSH6):c.1255_1268del:p.Gln419fs	coding	Pathogenic/Likely_pathogenic
2	47799256	ATC	A	C47799258G	MSH6	NM_000179.2(MSH6):c.1275_1276del:p.Ile425fs	coding	Pathogenic
2	47799258	CT	C	T47799259G	MSH6	NM_001281492.1(MSH6):c.886del:p.Cys296fs	coding	Pathogenic
2	47799269	TG	T	G47799273A	MSH6	NM_000179.2(MSH6):c.1290del:p.Lys431fs	coding	Pathogenic
2	47799278	T	TAA	T47799279A	MSH6	NM_000179.2(MSH6):c.1295_1296insAA:p.Phe432fs	coding	Pathogenic
2	47799281	AT	A	T47799282G	MSH6	NM_000179.2(MSH6):c.1299del:p.Phe432_Tyr433insTer	coding	Pathogenic
2	47799306	T	TCAAA	A47799307C	MSH6	NM_000179.2(MSH6):c.1323_1324insCAAA:p.Ile442fs	coding	Pathogenic
2	47799307	AT	A	T47799309G	MSH6	NM_000179.2(MSH6):c.1326del:p.Ile442fs	coding	Pathogenic
2	47799309	T	TG	A47799312G	MSH6	NM_000179.2(MSH6):c.1328dup:p.Val444fs	coding	Pathogenic
2	47799315	CAG	C	A47799316T	MSH6	NM_000179.2(MSH6):c.1333_1334del:p.Val444_Ser445insTer	coding	Pathogenic
2	47799331	GTA	G	A47799333T	MSH6	NM_000179.2(MSH6):c.1350_1351del:p.Phe451fs	coding	Pathogenic
2	47799333	AT	A	T47799335C	MSH6	NM_001281492.1(MSH6):c.962del:p.Phe321fs	coding	Pathogenic/Likely_pathogenic
2	47799349	TG	T	G47799352C	MSH6	NM_000179.3(MSH6):c.1369del:p.Ala457fs	coding	Pathogenic
2	47799363	C	CT	C47799367T	MSH6	NM_000179.2(MSH6):c.1383dup:p.Pro462fs	coding	Pathogenic
2	47799397	TC	T	C47799400T	MSH6	NM_000179.2(MSH6):c.1417del:p.Leu473fs	coding	Pathogenic
2	47799402	G	GGT	C47799406T	MSH6	NM_001281492.1(MSH6):c.1031_1032dup:p.Gln345fs	coding	Pathogenic
2	47799410	A	AG	C47799414G	MSH6	NM_000179.2(MSH6):c.1430dup:p.Tyr478fs	coding	Pathogenic
2	47799421	GTAGCA	CG	G47799421C	MSH6	NM_000179.2(MSH6):c.1438_1443delinsCG:p.Val480fs	coding	Pathogenic
2	47799432	GGAACAGACTGAGA	AGC	G47799432A	MSH6	NM_001281492.1(MSH6):c.1059_1072delinsAGC:p.Glu354fs	coding	Pathogenic
2	47799440	CTG	C	T47799441A	MSH6	NM_000179.2(MSH6):c.1458_1459del:p.Glu487fs	coding	Pathogenic
2	47799471	TAG	T	G47799473A	MSH6	NM_000179.2(MSH6):c.1490_1491del:p.Arg497fs	coding	Pathogenic
2	47799473	GAAAGATGGCACATATATCCAAGTATGATA	G	A47799474G	MSH6	NM_000179.2(MSH6):c.1491_1519del:p.Lys498fs	coding	Pathogenic
2	47799484	CATATATCCAA	C	A47799485G	MSH6	NM_000179.2(MSH6):c.1502_1511del:p.His501fs	coding	Pathogenic
2	47799485	A	AT	A47799487T	MSH6	NM_000179.3(MSH6):c.1503dup:p.Ile502fs	coding	Pathogenic
2	47799494	AG	A	G47799495T	MSH6	NM_000179.3(MSH6):c.1512del:p.Lys504fs	coding	Pathogenic
2	47799501	T	TA	G47799503A	MSH6	NM_000179.2(MSH6):c.1519dup:p.Arg507fs	coding	Pathogenic
2	47799551	CTT	C	T47799552A	MSH6	NM_000179.2(MSH6):c.1569_1570del:p.Tyr524fs	coding	Pathogenic
2	47799553	TAC	T	C47799555G	MSH6	NM_000179.2(MSH6):c.1572_1573del:p.Tyr524_Ser525delinsTer	coding	Pathogenic
2	47799553	T	TA	C47799555A	MSH6	NM_000179.2(MSH6):c.1571dup:p.Tyr524Ter	coding	Pathogenic
2	47799553	T	TC	A47799554C	MSH6	NM_000179.2(MSH6):c.1570_1571insC:p.Tyr524fs	coding	Pathogenic
2	47799562	CT	C	T47799563G	MSH6	NM_001281492.1(MSH6):c.1190del:p.Leu397fs	coding	Pathogenic
2	47799572	AT	A	T47799573C	MSH6	NM_001281492.1(MSH6):c.1200del:p.Ser402fs	coding	Pathogenic
2	47799578	C	CT	G47799580T	MSH6	NM_000179.3(MSH6):c.1596dup:p.Glu533Ter	coding	Pathogenic
2	47799578	CTG	C	T47799579A	MSH6	NM_000179.2(MSH6):c.1596_1597del:p.Asn534fs	coding	Pathogenic
2	47799584	AC	A	C47799585T	MSH6	NM_000179.2(MSH6):c.1602del:p.Tyr535fs	coding	Pathogenic
2	47799588	CAGTA	C	A47799593T	MSH6	NM_001281492.1(MSH6):c.1216_1219AGTA[1]:p.Lys407fs	coding	Pathogenic/Likely_pathogenic
2	47799590	G	GT	A47799592T	MSH6	NM_000179.3(MSH6):c.1608dup:p.Lys537Ter	coding	Pathogenic
2	47799594	G	GT	A47799596T	MSH6	NM_000179.3(MSH6):c.1612dup:p.Tyr538fs	coding	Pathogenic
2	47799594	GTATC	G	A47799596T	MSH6	NM_000179.3(MSH6):c.1613_1616del:p.Tyr538fs	coding	Pathogenic
2	47799596	ATCT	A	C47799601A	MSH6	NM_001281492.1(MSH6):c.1225_1227CTT[1]:p.Leu410del	coding	Pathogenic
2	47799597	TC	AG	T47799597A	MSH6	NM_001281492.1(MSH6):c.1224_1225delinsAG:p.Tyr408_Leu409delinsTer	coding	Pathogenic
2	47799597	TC	G	T47799597G	MSH6	NM_001281492.1(MSH6):c.1224_1225delinsG:p.Tyr408_Leu409delinsTer	coding	Pathogenic
2	47799601	CTT	C	T47799602A	MSH6	NM_000179.2(MSH6):c.1619_1620del:p.Leu540fs	coding	Pathogenic
2	47799609	CAAAG	C	G47799613A	MSH6	NM_000179.3(MSH6):c.1630_1633del:p.Glu544fs	coding	Pathogenic
2	47799609	CAA	C	A47799611G	MSH6	NM_001281492.1(MSH6):c.1238_1239del:p.Lys413fs	coding	Pathogenic
2	47799612	A	AG	A47799614G	MSH6	NM_000179.3(MSH6):c.1630dup:p.Glu544fs	coding	Pathogenic
2	47799613	GAAAA	G	A47799615G	MSH6	NM_001281492.1(MSH6):c.1242_1245del:p.Lys415fs	coding	Pathogenic
2	47799613	GAA	G	A47799617G	MSH6	NM_000179.3(MSH6):c.1634_1635del:p.Lys545fs	coding	Pathogenic/Likely_pathogenic
2	47799615	AAAAG	A	A47799617G	MSH6	NM_001281492.1(MSH6):c.1244_1247del:p.Lys415fs	coding	Pathogenic
2	47799617	AAG	A	A47799620G	MSH6	NM_001281492.1(MSH6):c.1245_1246AG[1]:p.Glu416fs	coding	Pathogenic
2	47799620	AG	A	G47799622A	MSH6	NM_000179.3(MSH6):c.1639del:p.Glu547fs	coding	Pathogenic
2	47799626	AT	A	T47799628C	MSH6	NM_000179.2(MSH6):c.1645del:p.Ser549fs	coding	Pathogenic
2	47799651	TGG	T	G47799652T	MSH6	NM_000179.2(MSH6):c.1669_1670del:p.Gly557fs	coding	Pathogenic
2	47799652	G	GGT	C47799660T	MSH6	NM_000179.3(MSH6):c.1675_1676dup:p.Phe560fs	coding	Pathogenic
2	47799669	T	TA	C47799671A	MSH6	NM_000179.3(MSH6):c.1687dup:p.Thr563fs	coding	Pathogenic
2	47799680	G	GA	G47799684A	MSH6	NM_000179.2(MSH6):c.1700dup:p.Phe568fs	coding	Pathogenic
2	47799684	GTT	G	T47799688C	MSH6	NM_001281492.1(MSH6):c.1315_1316del:p.Phe439fs	coding	Pathogenic
2	47799689	TC	T	C47799690A	MSH6	NM_000179.3(MSH6):c.1707del:p.Phe569fs	coding	Pathogenic
2	47799719	GT	G	T47799721C	MSH6	NM_000179.2(MSH6):c.1738del:p.Ser580fs	coding	Pathogenic
2	47799726	A	AT	A47799730T	MSH6	NM_000179.2(MSH6):c.1746dup:p.Arg583Ter	coding	Pathogenic
2	47799745	C	CT	A47799746T	MSH6	NM_000179.2(MSH6):c.1762_1763insT:p.His588fs	coding	Pathogenic
2	47799749	AT	A	T47799750C	MSH6	NM_000179.3(MSH6):c.1767del	coding	Pathogenic
2	47799750	TC	T	C47799755A	MSH6	NM_000179.2(MSH6):c.1772del:p.Pro591fs	coding	Pathogenic
2	47799763	GT	G	T47799767A	MSH6	NM_001281492.1(MSH6):c.1394del:p.Leu465fs	coding	Pathogenic
2	47799772	G	GA	G47799778A	MSH6	NM_000179.2(MSH6):c.1794dup:p.Gly599fs	coding	Pathogenic
2	47799782	ATC	A	T47799787A	MSH6	NM_001281492.1(MSH6):c.1410_1411TC[2]:p.Ser472fs	coding	Pathogenic
2	47799788	CAAAG	C	A47799789G	MSH6	NM_001281492.1(MSH6):c.1416_1419del:p.Glu474fs	coding	Pathogenic
2	47799788	C	CA	G47799792A	MSH6	NM_000179.2(MSH6):c.1808dup:p.Glu604fs	coding	Pathogenic
2	47799797	CTA	C	T47799798A	MSH6	NM_000179.2(MSH6):c.1815_1816del:p.Lys606fs	coding	Pathogenic
2	47799798	TA	T	A47799802C	MSH6	NM_000179.3(MSH6):c.1819del:p.Thr607fs	coding	Pathogenic
2	47799798	T	TA	C47799803A	MSH6	NM_001281492.1(MSH6):c.1429dup:p.Thr477fs	coding	Pathogenic
2	47799799	AAAAC	A	A47799802T	MSH6	NM_000179.2(MSH6):c.1819_1822del:p.Thr607fs	coding	Pathogenic
2	47799817	TC	T	C47799818A	MSH6	NM_000179.3(MSH6):c.1835del:p.Ser612fs	coding	Pathogenic
2	47799818	C	CA	T47799820A	MSH6	NM_000179.3(MSH6):c.1836dup:p.Leu613fs	coding	Pathogenic/Likely_pathogenic
2	47799823	TC	T	C47799825T	MSH6	NM_000179.2(MSH6):c.1842del:p.Cys615fs	coding	Pathogenic
2	47799844	C	CT	G47799846T	MSH6	NM_000179.3(MSH6):c.1862dup:p.Ile622fs	coding	Pathogenic
2	47799849	AC	A	C47799852G	MSH6	NM_001281492.1(MSH6):c.1479del:p.Gly494fs	coding	Pathogenic
2	47799852	CG	C	G47799854C	MSH6	NM_001281492.1(MSH6):c.1481del:p.Gly494fs	coding	Pathogenic
2	47799880	AC	A	C47799881T	MSH6	NM_000179.2(MSH6):c.1898del:p.Thr633fs	coding	Pathogenic
2	47799881	C	CT	G47799885T	MSH6	NM_000179.2(MSH6):c.1901dup:p.Leu634fs	coding	Pathogenic
2	47799881	CTT	C	T47799883G	MSH6	NM_000179.2(MSH6):c.1900_1901del:p.Leu634fs	coding	Pathogenic
2	47799883	TTG	T	T47799884A	MSH6	NM_001281492.1(MSH6):c.1511_1512del:p.Thr503_Leu504insTer	coding	Pathogenic
2	47799893	TC	T	C47799895T	MSH6	NM_000179.2(MSH6):c.1912del:p.Glu639fs	coding	Pathogenic/Likely_pathogenic
2	47799904	GA	G	A47799906T	MSH6	NM_000179.2(MSH6):c.1923del:p.Glu641fs	coding	Pathogenic
2	47799913	AGGGAAAAGCTAAGTGAT	A	G47799916C	MSH6	NM_000179.3(MSH6):c.1933_1949del:p.Glu645fs	coding	Pathogenic
2	47799916	GA	G	A47799920G	MSH6	NM_000179.2(MSH6):c.1937del:p.Lys646fs	coding	Pathogenic
2	47799939	G	GGTGA	T47799944G	MSH6	NM_001281492.1(MSH6):c.1567_1570dup:p.Met524fs	coding	Pathogenic
2	47799948	AC	A	C47799952A	MSH6	NM_000179.2(MSH6):c.1969del:p.Gln657fs	coding	Pathogenic
2	47799966	TA	T	A47799967T	MSH6	NM_000179.2(MSH6):c.1984del:p.Gly661_Met662insTer	coding	Pathogenic
2	47799974	CAG	C	A47799977T	MSH6	NM_001281492.1(MSH6):c.1602_1603AG[1]:p.Glu535fs	coding	Pathogenic
2	47799978	GTC	G	C47799980G	MSH6	NM_000179.3(MSH6):c.1997_1998del:p.Glu665_Ser666insTer	coding	Pathogenic
2	47799980	CTG	C	T47799981A	MSH6	NM_000179.2(MSH6):c.1998_1999del:p.Asp667fs	coding	Pathogenic
2	47799990	TG	T	G47799993T	MSH6	NM_000179.2(MSH6):c.2010del:p.Gly670_Leu671insTer	coding	Pathogenic
2	47800003	GGAGAGAAAAGTGAATTGGCCCTCTCTGCTCTAGGTGGTTGTGTCTTCTACCTCAAAAAATGCCTTATTGATCAGGAGCTTTTATCAATGGCTAATTTTGAAGAATATATTCCCTTGGATTCTGACAC	TTGT	G47800003T	MSH6	NM_000179.3(MSH6):c.2020_2147delinsTTGT:p.Gly674fs	coding	Pathogenic
2	47800008	GAA	G	A47800011G	MSH6	NM_000179.2(MSH6):c.2028_2029del:p.Lys676_Ser677insTer	coding	Pathogenic
2	47800019	TGGCCCT	GG	T47800019G	MSH6	NM_000179.2(MSH6):c.2036_2042delinsGG:p.Leu679fs	coding	Pathogenic
2	47800021	GC	G	C47800024T	MSH6	NM_000179.3(MSH6):c.2041del:p.Leu681fs	coding	Pathogenic
2	47800023	CCT	C	C47800028G	MSH6	NM_001281492.1(MSH6):c.1651_1652CT[2]:p.Ser552fs	coding	Pathogenic
2	47800024	CT	C	T47800025C	MSH6	NM_000179.3(MSH6):c.2042del:p.Leu681fs	coding	Pathogenic
2	47800030	G	GCT	A47800035C	MSH6	NM_000179.2(MSH6):c.2048_2049CT[3]:p.Leu684_Gly685insTer	coding	Pathogenic
2	47800032	TC	T	C47800033T	MSH6	NM_000179.2(MSH6):c.2050del:p.Ala683_Leu684insTer	coding	Pathogenic
2	47800039	GGTTG	CTTCTACCTCAAAAA	G47800039C	MSH6	NM_001281492.1(MSH6):c.1666_1670delinsCTTCTACCTCAAAAA:p.Gly556fs	coding	Pathogenic
2	47800041	TTG	T	G47800045C	MSH6	NM_001281492.1(MSH6):c.1670_1671GT[1]:p.Val558fs	coding	Pathogenic
2	47800055	TC	ATTA	T47800055A	MSH6	NM_000179.2(MSH6):c.2072_2073delinsATTA:p.Leu691fs	coding	Pathogenic
2	47800056	CA	C	A47800062T	MSH6	NM_000179.3(MSH6):c.2079delA	coding	Pathogenic
2	47800056	C	CA	T47800063A	MSH6	NM_001281492.1(MSH6):c.1689dup:p.Cys564fs	coding	Pathogenic
2	47800068	TATTGATC	T	T47800070G	MSH6	NM_000179.2(MSH6):c.2087_2093del:p.Ile696fs	coding	Pathogenic
2	47800071	TG	T	G47800072A	MSH6	NM_000179.2(MSH6):c.2089del:p.Asp697fs	coding	Pathogenic
2	47800074	TC	T	C47800075A	MSH6	NM_000179.3(MSH6):c.2092del:p.Gln698fs	coding	Pathogenic
2	47800074	T	TC	A47800076C	MSH6	NM_000179.2(MSH6):c.2092dup:p.Gln698fs	coding	Pathogenic
2	47800084	T	TC	T47800085C	MSH6	NM_000179.2(MSH6):c.2101_2102insC:p.Leu701fs	coding	Pathogenic
2	47800097	AT	A	T47800101G	MSH6	NM_000179.3(MSH6):c.2118del:p.Phe706fs	coding	Pathogenic
2	47800107	A	AT	A47800109T	MSH6	NM_000179.2(MSH6):c.2125dup:p.Tyr709fs	coding	Pathogenic
2	47800118	TG	T	G47800120A	MSH6	NM_000179.2(MSH6):c.2137del:p.Asp713fs	coding	Pathogenic
2	47800126	GAC	G	C47800130G	MSH6	NM_001281492.1(MSH6):c.1755_1756CA[1]:p.Thr586fs	coding	Pathogenic
2	47800129	ACAGT	A	T47800133C	MSH6	NM_001281492.1(MSH6):c.1760_1763del:p.Val587fs	coding	Pathogenic
2	47800129	ACAGTCAG	A	G47800132C	MSH6	NM_000179.2(MSH6):c.2149_2155del:p.Val717fs	coding	Pathogenic
2	47800146	ATCTGG	A	C47800148G	MSH6	NM_000179.2(MSH6):c.2165_2169del:p.Ser722fs	coding	Pathogenic
2	47800183	GTGCTAGA	G	T47800187A	MSH6	NM_000179.3(MSH6):c.2204_2210del:p.Leu735fs	coding	Pathogenic
2	47800193	CAGTGACATTAA	C	G47800195C	MSH6	NM_000179.2(MSH6):c.2212_2222del:p.Val738fs	coding	Pathogenic
2	47800209	C	CT	G47800212T	MSH6	NM_000179.2(MSH6):c.2228dup:p.Leu743fs	coding	Pathogenic
2	47800211	T	TG	A47800214G	MSH6	NM_000179.2(MSH6):c.2230dup:p.Glu744fs	coding	Pathogenic/Likely_pathogenic
2	47800216	A	AT	C47800222T	MSH6	NM_000179.2(MSH6):c.2238dup:p.Leu747fs	coding	Pathogenic
2	47800221	TC	T	C47800222T	MSH6	NM_000179.3(MSH6):c.2239del:p.Phe746_Leu747insTer	coding	Pathogenic
2	47800242	T	TA	C47800244A	MSH6	NM_000179.2(MSH6):c.2260dup:p.Thr754fs	coding	Pathogenic/Likely_pathogenic
2	47800246	GA	G	A47800248G	MSH6	NM_000179.3(MSH6):c.2265del:p.Gly756fs	coding	Pathogenic
2	47800251	AAC	A	A47800252C	MSH6	NM_000179.2(MSH6):c.2269_2270del:p.Thr757fs	coding	Pathogenic
2	47800259	TAG	T	A47800264G	MSH6	NM_001281492.1(MSH6):c.1887_1888AG[2]:p.Arg631fs	coding	Pathogenic
2	47800259	T	TAGAGA	G47800265A	MSH6	NM_000179.2(MSH6):c.2277_2281dup:p.Arg761fs	coding	Pathogenic
2	47800272	T	TA	C47800274A	MSH6	NM_000179.2(MSH6):c.2290dup:p.Thr764fs	coding	Pathogenic
2	47800276	T	TG	C47800278G	MSH6	NM_000179.2(MSH6):c.2294dup:p.Cys765fs	coding	Pathogenic
2	47800277	G	GC	A47800280C	MSH6	NM_000179.2(MSH6):c.2296dup:p.His766fs	coding	Pathogenic
2	47800291	GGTAA	T	G47800291T	MSH6	NM_001281492.1(MSH6):c.1918_1922delinsT:p.Gly640fs	coding	Pathogenic
2	47800298	G	GGC	T47800301G	MSH6	NM_000179.2(MSH6):c.2316_2317dup:p.Leu773fs	coding	Pathogenic
2	47800311	A	ATGGCTTTGTGCCCCACTCTGTAACCAAGCAT	T47800338A	MSH6	NM_000179.2(MSH6):c.2354_2355insAGCATTGGCTTTGTGCCCCACTCTGTAACCA:p.His785delinsGlnAlaLeuAlaLeuCysProThrLeuTer	coding	Pathogenic
2	47800326	ACT	A	C47800329G	MSH6	NM_000179.3(MSH6):c.2344_2345CT[1]:p.Leu782_Cys783insTer	coding	Pathogenic
2	47800329	CTG	C	G47800331A	MSH6	NM_001281492.1(MSH6):c.1958_1959del:p.Leu652_Cys653insTer	coding	Pathogenic
2	47800333	AAC	A	A47800334C	MSH6	NM_000179.2(MSH6):c.2351_2352del:p.Asn784fs	coding	Pathogenic
2	47800353	TC	T	C47800354G	MSH6	NM_000179.2(MSH6):c.2371del:p.Arg791fs	coding	Pathogenic
2	47800353	T	TCAGA	G47800355A	MSH6	NM_000179.2(MSH6):c.2371_2372insAGAC:p.Arg791fs	coding	Pathogenic
2	47800361	ATG	A	T47800362C	MSH6	NM_001281492.1(MSH6):c.1989_1990del:p.Ala664fs	coding	Pathogenic
2	47800401	C	CG	A47800403G	MSH6	NM_000179.2(MSH6):c.2419dup:p.Glu807fs	coding	Pathogenic
2	47800409	TAGAGCTTCTAA	T	G47800413A	MSH6	NM_000179.3(MSH6):c.2430_2440del:p.Leu811fs	coding	Pathogenic
2	47800411	GA	G	A47800412G	MSH6	NM_000179.3(MSH6):c.2429del:p.Glu810fs	coding	Pathogenic
2	47800452	TA	T	A47800456T	MSH6	NM_000179.3(MSH6):c.2473del:p.Ile825fs	coding	Pathogenic
2	47800473	TC	T	C47800477T	MSH6	NM_000179.2(MSH6):c.2494del:p.Pro831_Leu832insTer	coding	Pathogenic
2	47800480	AAG	A	A47800483T	MSH6	NM_000179.3(MSH6):c.2500_2501del:p.Gln835fs	coding	Pathogenic
2	47800486	CA	C	A47800487G	MSH6	NM_000179.3(MSH6):c.2504del:p.Gln835fs	coding	Pathogenic
2	47800503	CA	C	A47800504G	MSH6	NM_000179.2(MSH6):c.2521del:p.Arg841fs	coding	Pathogenic
2	47800517	A	AT	G47800519T	MSH6	NM_001281492.1(MSH6):c.2145dup:p.Glu716Ter	coding	Pathogenic
2	47800531	TAC	T	C47800533G	MSH6	NM_000179.2(MSH6):c.2550_2551del:p.Tyr850_Ser851delinsTer	coding	Pathogenic
2	47800534	AGCAAGAAGAAGATTATTGATTTTCTTTCTGCTCTGGAAGGATTCAAAGTAATGTGT	A	G47800535A	MSH6	NM_000179.3(MSH6):c.2552_2607del:p.Ser851fs	coding	Pathogenic
2	47800548	TATTG	T	G47800552T	MSH6	NM_001281492.1(MSH6):c.2179_2182del:p.Asp727fs	coding	Pathogenic
2	47800553	A	AT	C47800558T	MSH6	NM_000179.3(MSH6):c.2574dup:p.Leu859fs	coding	Pathogenic
2	47800583	T	TA	T47800586A	MSH6	NM_000179.3(MSH6):c.2602dup:p.Met868fs	coding	Pathogenic
2	47800585	AT	A	T47800586G	MSH6	NM_000179.3(MSH6):c.2603del:p.Met868fs	coding	Pathogenic
2	47800590	T	TAA	T47800595A	MSH6	NM_000179.3(MSH6):c.2610_2611dup:p.Ile871fs	coding	Pathogenic
2	47800592	A	AAATT	T47800598A	MSH6	NM_001281492.1(MSH6):c.2221_2224dup:p.Ile742fs	coding	Pathogenic
2	47800599	AGG	A	G47800601A	MSH6	NM_000179.2(MSH6):c.2618_2619del:p.Gly873fs	coding	Pathogenic
2	47800627	TTTAAGTCTA	T	T47800628A	MSH6	NM_000179.2(MSH6):c.2645_2653del:p.Phe882_Lys885delinsTer	coding	Pathogenic
2	47800639	ATCCTTAAGCAGG	TCTAAA	A47800639T	MSH6	NM_000179.2(MSH6):c.2656_2668delinsTCTAAA:p.Ile886fs	coding	Pathogenic
2	47800644	TAA	T	A47800645G	MSH6	NM_000179.3(MSH6):c.2662_2663del:p.Lys888fs	coding	Pathogenic
2	47800647	G	GC	A47800649C	MSH6	NM_000179.2(MSH6):c.2665dup:p.Gln889fs	coding	Pathogenic
2	47800654	ATC	A	C47800660G	MSH6	NM_000179.3(MSH6):c.2673_2674CT[2]:p.Leu893fs	coding	Pathogenic
2	47800655	TCT	C	T47800655C	MSH6	NM_001281492.1(MSH6):c.2282_2284delinsC:p.Ile761fs	coding	Pathogenic
2	47800667	C	CA	T47800674A	MSH6	NM_000179.2(MSH6):c.2690dup:p.Asn897fs	coding	Pathogenic
2	47800673	A	AG	T47800674G	MSH6	NM_000179.3(MSH6):c.2690_2691insG:p.Asn897fs	coding	Pathogenic
2	47800674	TC	T	C47800676T	MSH6	NM_000179.2(MSH6):c.2693del:p.Pro898fs	coding	Pathogenic
2	47800700	CTG	C	G47800702A	MSH6	NM_001281492.1(MSH6):c.2329_2330del:p.Val777fs	coding	Pathogenic
2	47800701	TG	T	G47800702T	MSH6	NM_000179.3(MSH6):c.2719del:p.Thr906_Val907insTer	coding	Pathogenic
2	47800704	AGAATT	A	T47800708C	MSH6	NM_000179.2(MSH6):c.2725_2729del:p.Leu909fs	coding	Pathogenic
2	47800720	G	GAT	C47800724T	MSH6	NM_000179.2(MSH6):c.2739_2740dup:p.Thr914fs	coding	Pathogenic
2	47800728	C	CT	G47800732T	MSH6	NM_000179.2(MSH6):c.2748dup:p.Asp917Ter	coding	Pathogenic
2	47800731	T	TG	A47800733G	MSH6	NM_000179.3(MSH6):c.2749dup:p.Asp917fs	coding	Pathogenic
2	47800738	GA	G	A47800742G	MSH6	NM_000179.2(MSH6):c.2759del:p.Lys920fs	coding	Pathogenic
2	47800738	G	GA	G47800743A	MSH6	NM_000179.3(MSH6):c.2759dup:p.Ala921fs	coding	Pathogenic
2	47800747	CG	C	G47800748A	MSH6	NM_001281492.1(MSH6):c.2375del:p.Arg792fs	coding	Pathogenic
2	47800748	G	GA	G47800752A	MSH6	NM_001281492.1(MSH6):c.2378dup:p.Thr794fs	coding	Pathogenic
2	47800754	CTG	C	T47800755G	MSH6	NM_001281492.1(MSH6):c.2382_2383del:p.Gly795fs	coding	Pathogenic
2	47800761	T	TA	T47800763A	MSH6	NM_000179.2(MSH6):c.2779dup:p.Ile927fs	coding	Pathogenic
2	47800784	ACT	A	C47800787G	MSH6	NM_000179.3(MSH6):c.2802_2803CT[1]:p.Asp934_Ser935insTer	coding	Pathogenic
2	47800787	C	CT	G47800789T	MSH6	NM_000179.2(MSH6):c.2805dup:p.Asp936Ter	coding	Pathogenic
2	47800787	C	CTT	G47800789T	MSH6	NM_000179.2(MSH6):c.2805_2806insTT:p.Asp936fs	coding	Pathogenic
2	47800787	CTG	C	T47800788A	MSH6	NM_000179.2(MSH6):c.2805_2806del:p.Asp936fs	coding	Pathogenic
2	47800794	TG	T	G47800795A	MSH6	NM_000179.2(MSH6):c.2812del:p.Asp938fs	coding	Pathogenic
2	47800814	TAA	T	A47800815G	MSH6	NM_000179.2(MSH6):c.2832_2833del:p.Ile944fs	coding	Pathogenic
2	47800826	AAC	A	C47800828G	MSH6	NM_000179.3(MSH6):c.2845_2846del:p.Gln949fs	coding	Pathogenic
2	47800828	CAG	C	A47800831C	MSH6	NM_000179.3(MSH6):c.2846_2847AG[1]:p.Ser950fs	coding	Pathogenic
2	47800833	CCTCCTGGA	C	C47800834A	MSH6	NM_001281492.1(MSH6):c.2461_2468del:p.Leu821fs	coding	Pathogenic
2	47800844	AC	A	C47800846T	MSH6	NM_001281492.1(MSH6):c.2473del:p.Tyr824_Leu825insTer	coding	Pathogenic
2	47800855	CA	C	A47800856G	MSH6	NM_000179.3(MSH6):c.2873del:p.Gln958fs	coding	Pathogenic
2	47800855	CAG	C	A47800856C	MSH6	NM_000179.2(MSH6):c.2873_2874del:p.Gln958fs	coding	Pathogenic
2	47800884	A	AG	T47800886G	MSH6	NM_000179.3(MSH6):c.2902dup:p.Val968fs	coding	Pathogenic
2	47800887	CTA	C	A47800889T	MSH6	NM_000179.2(MSH6):c.2906_2907del:p.Tyr969fs	coding	Pathogenic
2	47800891	TG	T	G47800896A	MSH6	NM_000179.2(MSH6):c.2913del:p.Ile972fs	coding	Pathogenic
2	47800891	T	TG	A47800897G	MSH6	NM_000179.2(MSH6):c.2913dup:p.Ile972fs	coding	Pathogenic
2	47800902	TA	T	A47800903G	MSH6	NM_000179.2(MSH6):c.2920del:p.Arg974fs	coding	Pathogenic
2	47800912	T	TA	C47800914A	MSH6	NM_000179.3(MSH6):c.2930dup:p.Tyr977Ter	coding	Pathogenic
2	47800926	TC	T	C47800928T	MSH6	NM_001281492.1(MSH6):c.2555del:p.Pro852fs	coding	Pathogenic
2	47800943	C	CT	C47800945T	MSH6	NM_000179.3(MSH6):c.2961dup:p.Arg988fs	coding	Pathogenic
2	47800946	G	GC	A47800948C	MSH6	NM_000179.2(MSH6):c.2964dup:p.Asn989fs	coding	Pathogenic
2	47800957	GA	G	A47800959G	MSH6	NM_001281492.1(MSH6):c.2586del:p.Glu863fs	coding	Pathogenic
2	47800966	GA	G	A47800967G	MSH6	NM_001281492.1(MSH6):c.2594del:p.Glu865fs	coding	Pathogenic
2	47800971	GA	G	A47800974T	MSH6	NM_000179.2(MSH6):c.2991del:p.Lys997fs	coding	Pathogenic
2	47801000	AC	A	C47801001T	MSH6	NM_000179.3(MSH6):c.3018del:p.Trp1007fs	coding	Pathogenic
2	47801002	TG	T	G47801004A	MSH6	NM_000179.2(MSH6):c.3021del:p.Tyr1006_Trp1007insTer	coding	Pathogenic
2	47801007	CA	C	A47801011C	MSH6	NM_001281492.1(MSH6):c.2638del:p.Thr880fs	coding	Pathogenic
2	47801016	TGAAAA	T	A47801020G	MSH6	NM_001281492.1(MSH6):c.2647_2651del:p.Lys883fs	coding	Pathogenic
2	47801033	ATC	A	T47801036A	MSH6	NM_001281492.1(MSH6):c.2661_2662TC[1]:p.Leu888fs	coding	Pathogenic
2	47801060	A	AT	G47801062T	MSH6	NM_000179.3(MSH6):c.3078dup:p.Val1027fs	coding	Pathogenic
2	47801062	G	GT	A47801064T	MSH6	NM_000179.3(MSH6):c.3080dup:p.Ser1028fs	coding	Pathogenic
2	47801069	TGAAG	T	A47801072C	MSH6	NM_000179.2(MSH6):c.3089_3092del:p.Lys1030fs	coding	Pathogenic
2	47801072	A	AG	A47801075G	MSH6	NM_000179.3(MSH6):c.3091dup:p.Asp1031fs	coding	Pathogenic
2	47801076	CTGCA	C	A47801080G	MSH6	NM_000179.2(MSH6):c.3097_3100del:p.Met1033fs	coding	Pathogenic
2	47801089	CTG	C	G47801091T	MSH6	NM_001281492.1(MSH6):c.2718_2719del:p.Phe907fs	coding	Pathogenic/Likely_pathogenic
2	47801091	GTTCT	G	T47801092A	MSH6	NM_000179.2(MSH6):c.3109_3112del:p.Phe1037fs	coding	Pathogenic
2	47801096	AT	A	T47801097A	MSH6	NM_000179.2(MSH6):c.3114del:p.Phe1037_Tyr1038insTer	coding	Pathogenic
2	47801100	CTT	C	T47801102G	MSH6	NM_001281492.1(MSH6):c.2729_2730del:p.Asn909_Phe910insTer	coding	Pathogenic
2	47801102	TTGATAAAAATTACA	AT	T47801102A	MSH6	NM_000179.2(MSH6):c.3119_3133delinsAT:p.Phe1040fs	coding	Pathogenic
2	47801119	GAC	G	A47801120T	MSH6	NM_000179.2(MSH6):c.3137_3138del:p.Asp1046fs	coding	Pathogenic
2	47801121	CT	C	T47801122G	MSH6	NM_000179.2(MSH6):c.3139del:p.Trp1047fs	coding	Pathogenic
2	47801131	GC	G	C47801132T	MSH6	NM_000179.2(MSH6):c.3149del:p.Ala1050fs	coding	Pathogenic
2	47801132	C	CTG	A47801136G	MSH6	NM_000179.3(MSH6):c.3151_3152dup:p.Val1051_Glu1052insTer	coding	Pathogenic
2	47801135	TAG	T	A47801138T	MSH6	NM_001281492.1(MSH6):c.2763_2764AG[1]:p.Glu922fs	coding	Pathogenic
2	47801141	G	GT	A47801143T	MSH6	NM_000179.2(MSH6):c.3159dup:p.Ile1054fs	coding	Pathogenic
2	47801145	C	CG	C47801147G	MSH6	NM_000179.2(MSH6):c.3163dup:p.Ala1055fs	coding	Pathogenic/Likely_pathogenic
2	47803417	CAG	C	G47803419T	MSH6	NM_000179.2(MSH6):c.3173-1_3173del	noncoding	Pathogenic
2	47803428	CT	C	T47803429G	MSH6	NM_001281492.1(MSH6):c.2792del:p.Leu931fs	coding	Pathogenic
2	47803441	ACTAT	A	C47803442A	MSH6	NM_001281492.1(MSH6):c.2805_2808del:p.Asn935fs	coding	Pathogenic
2	47803442	C	CTA	G47803447T	MSH6	NM_000179.2(MSH6):c.3196_3197TA[3]:p.Ser1067fs	coding	Pathogenic
2	47803442	CTA	C	T47803445G	MSH6	NM_001281492.1(MSH6):c.2806_2807TA[1]:p.Tyr936_Ser937delinsTer	coding	Pathogenic
2	47803451	A	AGG	T47803457G	MSH6	NM_000179.3(MSH6):c.3208_3209dup:p.Asp1071fs	coding	Pathogenic
2	47803451	A	AG	T47803457G	MSH6	NM_000179.3(MSH6):c.3209dup:p.Gly1070_Asp1071insTer	coding	Pathogenic
2	47803451	AG	A	G47803456T	MSH6	NM_000179.3(MSH6):c.3209del:p.Gly1070fs	coding	Pathogenic
2	47803465	CTA	C	A47803467G	MSH6	NM_000179.2(MSH6):c.3220_3221del:p.Met1074fs	coding	Pathogenic
2	47803467	AT	A	T47803468G	MSH6	NM_001281492.1(MSH6):c.2831del:p.Met944fs	coding	Pathogenic
2	47803469	G	GT	G47803471T	MSH6	NM_000179.3(MSH6):c.3223dup:p.Cys1075fs	coding	Pathogenic
2	47803472	T	TC	G47803474C	MSH6	NM_000179.2(MSH6):c.3226dup:p.Arg1076fs	coding	Pathogenic
2	47803483	TTC	T	C47803485G	MSH6	NM_000179.2(MSH6):c.3238_3239del:p.Leu1080fs	coding	Pathogenic
2	47803484	TC	T	C47803485T	MSH6	NM_000179.2(MSH6):c.3238del:p.Leu1080fs	coding	Pathogenic
2	47803487	GT	G	T47803489G	MSH6	NM_000179.3(MSH6):c.3242del:p.Leu1081fs	coding	Pathogenic
2	47803498	A	AT	A47803500T	MSH6	NM_000179.2(MSH6):c.3252dup:p.Thr1085fs	coding	Pathogenic
2	47803499	TA	T	A47803500C	MSH6	NM_000179.2(MSH6):c.3253del:p.Thr1085fs	coding	Pathogenic
2	47803499	T	TA	C47803501A	MSH6	NM_000179.2(MSH6):c.3253dup:p.Thr1085fs	coding	Pathogenic
2	47803500	A	ACC	T47803509C	MSH6	NM_000179.2(MSH6):c.3260_3261dup:p.Phe1088fs	coding	Pathogenic
2	47803500	A	AC	T47803509C	MSH6	NM_000179.3(MSH6):c.3261dup:p.Phe1088fs	coding	Pathogenic
2	47803500	A	AT	C47803501T	MSH6	NM_000179.3(MSH6):c.3253_3254insT:p.Thr1085fs	coding	Pathogenic
2	47803500	AC	A	C47803508T	MSH6	NM_000179.3(MSH6):c.3261del:p.Phe1088fs	coding	Pathogenic
2	47803500	A	TC	A47803500T	MSH6	NM_000179.2(MSH6):c.3253delinsTC:p.Thr1085fs	coding	Pathogenic
2	47803501	CC	A	C47803501A	MSH6	NM_000179.3(MSH6):c.3254_3255delinsA:p.Thr1085fs	coding	Pathogenic
2	47803501	CC	T	C47803501T	MSH6	NM_000179.2(MSH6):c.3254_3255delinsT:p.Thr1085fs	coding	Pathogenic
2	47803506	C	CT	C47803507T	MSH6	NM_000179.2(MSH6):c.3259_3260insT:p.Pro1087fs	coding	Pathogenic
2	47803507	CCT	C	C47803508T	MSH6	NM_000179.3(MSH6):c.3261_3262del:p.Phe1088fs	coding	Pathogenic
2	47803508	C	CT	C47803511T	MSH6	NM_001281492.1(MSH6):c.2873dup:p.Glu960fs	coding	Pathogenic
2	47803510	TCTTAGAG	T	G47803515A	MSH6	NM_001281492.1(MSH6):c.2878_2884del:p.Glu960fs	coding	Pathogenic
2	47803513	T	TA	G47803515A	MSH6	NM_000179.2(MSH6):c.3267dup:p.Glu1090fs	coding	Pathogenic
2	47803514	A	AC	G47803515C	MSH6	NM_000179.2(MSH6):c.3267_3268insC:p.Glu1090fs	coding	Pathogenic
2	47803518	C	CT	A47803521T	MSH6	NM_001281492.1(MSH6):c.2883dup:p.Lys962Ter	coding	Pathogenic
2	47803520	T	TA	G47803524A	MSH6	NM_000179.2(MSH6):c.3276dup:p.Gly1093fs	coding	Pathogenic
2	47803527	T	TC	A47803529C	MSH6	NM_000179.2(MSH6):c.3281dup:p.Arg1095fs	coding	Pathogenic
2	47803552	C	CT	G47803560T	MSH6	NM_000179.2(MSH6):c.3312dup:p.Gly1105fs	coding	Pathogenic
2	47803552	CT	C	T47803559G	MSH6	NM_001281492.1(MSH6):c.2922del:p.Phe974fs	coding	Pathogenic
2	47803552	CTT	C	T47803558G	MSH6	NM_001281492.1(MSH6):c.2921_2922del:p.Phe974fs	coding	Pathogenic
2	47803566	GA	G	A47803567T	MSH6	NM_001281492.1(MSH6):c.2930del:p.Asp977fs	coding	Pathogenic
2	47803567	A	AT	A47803572T	MSH6	NM_001281492.1(MSH6):c.2934dup:p.Ile979fs	coding	Pathogenic
2	47803577	T	TAATG	C47803583A	MSH6	NM_001281492.1(MSH6):c.2942_2945dup:p.Asp982delinsGluTer	coding	Pathogenic
2	47803583	C	CATTCT	A47803590T	MSH6	NM_000179.3(MSH6):c.3338_3342dup:p.Ile1115delinsPheTer	coding	Pathogenic
2	47803588	T	TC	A47803589C	MSH6	NM_000179.2(MSH6):c.3341_3342insC:p.Ile1115fs	coding	Pathogenic
2	47803614	GA	G	A47803618T	MSH6	NM_000179.2(MSH6):c.3371del:p.Asn1124fs	coding	Pathogenic
2	47803622	CAA	C	A47803624G	MSH6	NM_000179.2(MSH6):c.3377_3378del:p.Lys1126fs	coding	Pathogenic
2	47803625	AGCCTATTGTGTGCTTGTTACTGGACCAAATATGGGGGGCAAGTCTACGCTTATGAGACAGGTAAC	A	G47803626T	MSH6	NM_000179.2(MSH6):c.3379_3438+5del	coding	Pathogenic
2	47803628	C	CTA	T47803632A	MSH6	NM_000179.2(MSH6):c.3383_3384dup:p.Cys1129fs	coding	Pathogenic
2	47803632	TGTG	T	G47803633T	MSH6	NM_001281492.1(MSH6):c.2996_2998del:p.Cys999_Val1000delinsLeu	coding	Pathogenic
2	47803643	TACTGG	T	T47803646C	MSH6	NM_000179.3(MSH6):c.3399_3403del:p.Gly1134fs	coding	Pathogenic
2	47803644	AC	A	C47803645T	MSH6	NM_000179.2(MSH6):c.3398del:p.Thr1133fs	coding	Pathogenic
2	47803657	TG	T	G47803663C	MSH6	NM_001281492.1(MSH6):c.3026del:p.Gly1009fs	coding	Pathogenic
2	47803657	T	TG	C47803664G	MSH6	NM_000179.3(MSH6):c.3416dup	coding	Pathogenic/Likely_pathogenic
2	47803663	GC	G	C47803664A	MSH6	NM_000179.3(MSH6):c.3417del:p.Lys1140fs	coding	Pathogenic
2	47803664	C	CA	G47803667A	MSH6	NM_000179.3(MSH6):c.3419dup:p.Ser1141fs	coding	Pathogenic
2	47803668	TC	T	C47803669T	MSH6	NM_000179.2(MSH6):c.3422del:p.Ser1141fs	coding	Pathogenic
2	47803681	GA	G	A47803682C	MSH6	NM_000179.2(MSH6):c.3435del:p.Arg1145fs	coding	Pathogenic
2	47804881	TAA	T	A47804884G	MSH6	NM_000179.3(MSH6):c.3439-26_3439-25del	noncoding	Benign
2	47804912	TG	T	G47804914C	MSH6	NM_000179.2(MSH6):c.3443del:p.Gly1148fs	coding	Pathogenic
2	47804944	GT	G	T47804946A	MSH6	NM_000179.3(MSH6):c.3475del:p.Tyr1159fs	coding	Pathogenic
2	47804946	T	TA	C47804948A	MSH6	NM_000179.2(MSH6):c.3476dup:p.Tyr1159Ter	coding	Pathogenic
2	47804947	AC	A	C47804948G	MSH6	NM_000179.2(MSH6):c.3477del:p.Cys1158_Tyr1159insTer	coding	Pathogenic
2	47804961	G	GT	G47804963T	MSH6	NM_000179.2(MSH6):c.3491dup:p.Cys1165fs	coding	Pathogenic
2	47804979	ATTGATAGAGT	A	T47804980G	MSH6	NM_000179.2(MSH6):c.3509_3518del:p.Ile1170fs	coding	Pathogenic
2	47804981	TGA	T	G47804982T	MSH6	NM_001281492.1(MSH6):c.3121_3122del:p.Ile1040_Asp1041insTer	coding	Pathogenic
2	47804981	T	TTAA	G47804982T	MSH6	NM_000179.3(MSH6):c.3510_3511insTAA:p.Asp1171Ter	coding	Pathogenic
2	47804982	GATAGAGTGTTT	G	T47804984C	MSH6	NM_000179.2(MSH6):c.3513_3523del:p.Asp1171_Arg1172insTer	coding	Pathogenic
2	47804982	GAT	G	T47804984G	MSH6	NM_001281492.1(MSH6):c.3123_3124del:p.Asp1041fs	coding	Pathogenic
2	47804984	TAG	T	A47804987T	MSH6	NM_001281492.1(MSH6):c.3124_3125AG[1]:p.Arg1042fs	coding	Pathogenic
2	47804984	T	TAA	G47804986A	MSH6	NM_000179.2(MSH6):c.3514_3515insAA:p.Arg1172fs	coding	Pathogenic
2	47804984	T	TA	G47804986A	MSH6	NM_001281492.1(MSH6):c.3124dup:p.Arg1042fs	coding	Pathogenic
2	47804985	AGAGT	A	A47804987T	MSH6	NM_001281492.1(MSH6):c.3126_3129del:p.Arg1042fs	coding	Pathogenic
2	47804988	G	GTGTT	A47804994G	MSH6	NM_001281492.1(MSH6):c.3129_3132dup:p.Thr1045fs	coding	Pathogenic
2	47804990	G	GA	T47804991A	MSH6	NM_000179.2(MSH6):c.3519_3520insA:p.Phe1174fs	coding	Pathogenic
2	47804993	TAC	AT	T47804993A	MSH6	NM_000179.2(MSH6):c.3522_3524delinsAT:p.Phe1174fs	coding	Pathogenic
2	47804993	T	TAC	T47804996A	MSH6	NM_000179.2(MSH6):c.3523_3524dup:p.Arg1176fs	coding	Pathogenic
2	47804997	AGACTT	A	A47804999G	MSH6	NM_000179.2(MSH6):c.3528_3532del:p.Leu1177fs	coding	Pathogenic/Likely_pathogenic
2	47805009	TCAGA	T	C47805014A	MSH6	NM_000179.3(MSH6):c.3543_3546del:p.Asp1181fs	coding	Pathogenic/Likely_pathogenic
2	47805025	CAG	C	A47805026G	MSH6	NM_000179.2(MSH6):c.3555_3556del:p.Ser1185_Gly1186insTer	coding	Pathogenic
2	47805026	AG	A	G47805028T	MSH6	NM_000179.2(MSH6):c.3556+1del	coding	Pathogenic/Likely_pathogenic
2	47805059	TTCAG	T	G47805063T	MSH6	NM_000179.2(MSH6):c.3556+36_3556+39del	noncoding	Benign/Likely_benign
2	47805600	GA	G	A47805601T	MSH6	NM_000179.2(MSH6):c.3557-17del	noncoding	Benign/Likely_benign
2	47805601	A	AT	A47805615T	MSH6	NM_000179.2(MSH6):c.3557-4dup	noncoding	Benign
2	47805601	AT	A	T47805614A	MSH6	NM_000179.2(MSH6):c.3557-4del	noncoding	Benign/Likely_benign
2	47805620	GA	G	A47805623G	MSH6	NM_000179.2(MSH6):c.3562del:p.Ser1188fs	coding	Pathogenic
2	47805620	G	GAAAGT	C47805627A	MSH6	NM_000179.3(MSH6):c.3561_3565dup:p.Thr1189fs	coding	Pathogenic
2	47805621	A	AAAGT	C47805627A	MSH6	NM_001281492.1(MSH6):c.3172_3175dup:p.Thr1059fs	coding	Pathogenic
2	47805623	A	AG	T47805625G	MSH6	NM_000179.2(MSH6):c.3563dup:p.Ser1188fs	coding	Pathogenic
2	47805627	CAT	C	A47805628T	MSH6	NM_000179.3(MSH6):c.3567_3568del:p.Phe1191fs	coding	Pathogenic
2	47805628	A	AT	G47805635T	MSH6	NM_000179.3(MSH6):c.3573dup:p.Val1192fs	coding	Pathogenic
2	47805634	TG	T	G47805635T	MSH6	NM_000179.2(MSH6):c.3574del:p.Val1192fs	coding	Pathogenic/Likely_pathogenic
2	47805635	GTTGAA	G	G47805638A	MSH6	NM_000179.2(MSH6):c.3577_3581del:p.Glu1193fs	coding	Pathogenic
2	47805636	T	TTGAA	T47805642G	MSH6	NM_000179.2(MSH6):c.3577_3580dup:p.Leu1194Ter	coding	Pathogenic
2	47805637	TG	T	G47805638A	MSH6	NM_000179.2(MSH6):c.3577del:p.Glu1193fs	coding	Pathogenic
2	47805638	G	GA	T47805641A	MSH6	NM_000179.3(MSH6):c.3579dup:p.Leu1194fs	coding	Pathogenic
2	47805663	TCATG	T	T47805670A	MSH6	NM_000179.2(MSH6):c.3605_3608TGCA[1]:p.His1203fs	coding	Pathogenic
2	47805677	GCA	G	C47805680T	MSH6	NM_000179.3(MSH6):c.3617_3618CA[1]:p.His1207fs	coding	Pathogenic
2	47805681	A	AT	C47805684T	MSH6	NM_000179.2(MSH6):c.3622dup:p.Ser1208fs	coding	Pathogenic
2	47805692	C	CT	G47805695T	MSH6	NM_000179.2(MSH6):c.3633dup:p.Val1212fs	coding	Pathogenic
2	47805693	T	TTGTGGATGAATTAG	G47805708T	MSH6	NM_000179.3(MSH6):c.3633_3646dup:p.Gly1216delinsValTrpMetAsnTer	coding	Pathogenic
2	47805695	G	GT	G47805697T	MSH6	NM_001281492.1(MSH6):c.3245dup:p.Asp1083fs	coding	Pathogenic
2	47805735	A	ACTAT	T47805746A	MSH6	NM_000179.2(MSH6):c.3646+29CTAT[3]	noncoding	Benign
2	47805735	ACTAT	A	A47805742T	MSH6	NM_000179.2(MSH6):c.3646+35_3646+38del	noncoding	Benign
2	47805860	GATAAAAGGTGATATT	G	A47805861G	MSH6	NM_000179.2(MSH6):c.3646+154_3646+168del	noncoding	Benign
2	47806133	A	ATTTTTGTTTTAATTCCT	G47806170T	MSH6	NM_000179.2(MSH6):c.3647-70TTTTTGTTTTAATTCCT[3]	noncoding	Benign
2	47806159	T	TTAATTCCTTTTTTGTTC	G47806170T	MSH6	NM_000179.2(MSH6):c.3647-35_3647-34insTTTGTTCTAATTCCTTT	noncoding	Benign
2	47806202	AG	A	G47806204A	MSH6	NM_000179.2(MSH6):c.3647delG	noncoding	Pathogenic/Likely_pathogenic
2	47806205	A	AAG	G47806210A	MSH6	NM_000179.3(MSH6):c.3651_3652dup:p.Gly1218fs	coding	Pathogenic
2	47806212	ACTG	CC	A47806212C	MSH6	NM_000179.3(MSH6):c.3655_3658delinsCC:p.Thr1219fs	coding	Pathogenic
2	47806216	C	CAACA	T47806221A	MSH6	NM_000179.2(MSH6):c.3660_3663dup:p.Phe1222fs	coding	Pathogenic/Likely_pathogenic
2	47806234	C	CAATAGCAAATGCAGTTGTTAAAGAACTTG	C47806264A	MSH6	NM_001281492.1(MSH6):c.3288_3316dup:p.Ala1106delinsGluTer	coding	Pathogenic
2	47806246	CA	C	A47806247G	MSH6	NM_000179.2(MSH6):c.3690del:p.Val1231fs	coding	Pathogenic
2	47806250	T	TTA	G47806251T	MSH6	NM_000179.3(MSH6):c.3693_3694insTA:p.Val1232Ter	coding	Pathogenic
2	47806251	G	GT	A47806254T	MSH6	NM_000179.2(MSH6):c.3696dup:p.Lys1233Ter	coding	Pathogenic
2	47806253	TAAAG	T	A47806256C	MSH6	NM_001281492.1(MSH6):c.3309_3312del:p.Lys1103fs	coding	Pathogenic
2	47806253	TA	T	A47806256G	MSH6	NM_000179.2(MSH6):c.3699del:p.Glu1234fs	coding	Pathogenic
2	47806253	T	TAAAGA	C47806260A	MSH6	NM_000179.2(MSH6):c.3698_3702dup:p.Leu1235fs	coding	Pathogenic
2	47806253	T	TAAAG	C47806260A	MSH6	NM_000179.2(MSH6):c.3699_3702dup:p.Leu1235fs	coding	Pathogenic/Likely_pathogenic
2	47806253	T	TA	G47806257A	MSH6	NM_000179.3(MSH6):c.3699dup:p.Glu1234fs	coding	Pathogenic
2	47806255	A	AAGAACTT	G47806263A	MSH6	NM_000179.2(MSH6):c.3699_3705dup:p.Ala1236fs	coding	Pathogenic
2	47806270	CTA	C	T47806273A	MSH6	NM_001281492.1(MSH6):c.3324_3325TA[1]:p.Ile1109fs	coding	Pathogenic
2	47806271	T	TATAAA	G47806279A	MSH6	NM_000179.2(MSH6):c.3717_3721dup:p.Cys1241Ter	coding	Pathogenic
2	47806272	A	AT	A47806274T	MSH6	NM_000179.2(MSH6):c.3716dup:p.Cys1241fs	coding	Pathogenic
2	47806279	GTCGTACATTATTT	G	G47806282A	MSH6	NM_001281492.1(MSH6):c.3335_3347del:p.Arg1112fs	coding	Pathogenic
2	47806285	CATTATTTTCAACTCACTACCATTCATTAGTAGAAG	C	T47806292C	MSH6	NM_000179.2(MSH6):c.3735_3769del:p.Thr1247fs	coding	Pathogenic
2	47806285	C	CATTA	T47806290A	MSH6	NM_001281492.1(MSH6):c.3339_3342dup:p.Phe1115fs	coding	Pathogenic
2	47806286	A	ATTAT	T47806293A	MSH6	NM_000179.2(MSH6):c.3732_3735dup:p.Ser1246fs	coding	Pathogenic/Likely_pathogenic
2	47806295	A	AACTC	A47806303C	MSH6	NM_000179.2(MSH6):c.3742_3745dup:p.Tyr1249fs	coding	Pathogenic
2	47806295	AACTCACTACCATTCATTAGTA	TACTAATGAATGGTAGTGAGTT	A47806295T	MSH6	NM_000179.2(MSH6):c.3738_3759inv:p.His1248_Ser1251delinsAsnGluTrpTer	coding	Pathogenic
2	47806297	C	CTCACTACCAT	T47806311C	MSH6	NM_000179.2(MSH6):c.3744_3753dup:p.Val1253fs	coding	Pathogenic
2	47806300	A	AT	C47806301T	MSH6	NM_000179.2(MSH6):c.3743_3744insT:p.Tyr1249fs	coding	Pathogenic
2	47806302	T	TACCA	T47806307A	MSH6	NM_000179.2(MSH6):c.3746_3749dup:p.His1250fs	coding	Pathogenic
2	47806309	C	CATTA	G47806314A	MSH6	NM_000179.3(MSH6):c.3753_3756dup:p.Val1253fs	coding	Pathogenic/Likely_pathogenic
2	47806314	G	GA	T47806315A	MSH6	NM_000179.2(MSH6):c.3757_3758insA:p.Val1253fs	coding	Pathogenic
2	47806316	A	AT	G47806317T	MSH6	NM_000179.2(MSH6):c.3759_3760insT:p.Glu1254Ter	coding	Benign
2	47806317	G	GAAGA	T47806322A	MSH6	NM_000179.3(MSH6):c.3761_3764dup:p.Asp1255fs	coding	Pathogenic
2	47806321	A	AT	A47806324T	MSH6	NM_000179.2(MSH6):c.3766dup:p.Tyr1256fs	coding	Pathogenic
2	47806321	AT	A	T47806323A	MSH6	NM_000179.3(MSH6):c.3766del:p.Tyr1256fs	coding	Pathogenic
2	47806329	CAA	C	A47806332T	MSH6	NM_000179.2(MSH6):c.3775_3776del:p.Asn1259fs	coding	Pathogenic
2	47806344	C	CGCTA	C47806347T	MSH6	NM_000179.2(MSH6):c.3789_3790insTAGC:p.Leu1264Ter	coding	Pathogenic
2	47806348	TA	T	A47806349G	MSH6	NM_000179.2(MSH6):c.3792del:p.Gly1265fs	coding	Pathogenic
2	47806349	A	AG	A47806352G	MSH6	NM_000179.3(MSH6):c.3794dup:p.His1266fs	coding	Pathogenic
2	47806351	GACATATGGTATGTGCAAATTGTTTTTTTCC	G	T47806355A	MSH6	NM_000179.2(MSH6):c.3798_3801+26del	coding	Pathogenic
2	47806352	ACATATGGTATGTG	A	T47806355A	MSH6	NM_000179.2(MSH6):c.3798_3801+9del	coding	Pathogenic/Likely_pathogenic
2	47806353	CA	C	A47806354T	MSH6	NM_000179.3(MSH6):c.3797del:p.His1266fs	coding	Pathogenic
2	47806353	CAT	C	A47806356G	MSH6	NM_001281492.1(MSH6):c.3407_3408AT[1]:p.Met1137fs	coding	Pathogenic
2	47806407	C	CT	C47806410T	MSH6	NM_001281492.1(MSH6):c.3412-43dup	noncoding	Benign
2	47806453	C	CA	T47806455A	MSH6	NM_001281492.1(MSH6):c.3414dup:p.Cys1139fs	coding	Pathogenic
2	47806455	TGCATGGTAGAAAA	T	G47806456T	MSH6	NM_000179.3(MSH6):c.3806_3818del:p.Cys1269fs	coding	Pathogenic
2	47806457	CATGGTAGAAAATGA	C	G47806461T	MSH6	NM_000179.2(MSH6):c.3811_3824del:p.Met1270_Val1271insTer	coding	Pathogenic
2	47806457	C	CATGGTAGAAAATGAATG	T47806475A	MSH6	NM_000179.2(MSH6):c.3808_3824dup:p.Cys1275Ter	coding	Pathogenic
2	47806458	A	ATGGT	A47806463T	MSH6	NM_000179.2(MSH6):c.3809_3812dup:p.Glu1272fs	coding	Pathogenic
2	47806462	T	TA	G47806464A	MSH6	NM_000179.2(MSH6):c.3813dup:p.Glu1272fs	coding	Pathogenic
2	47806462	T	TAGAAAATGAATGTG	A47806478G	MSH6	NM_000179.2(MSH6):c.3814_3827dup:p.Asp1277fs	coding	Pathogenic/Likely_pathogenic
2	47806464	G	GA	T47806469A	MSH6	NM_000179.2(MSH6):c.3818dup:p.Asn1273fs	coding	Pathogenic
2	47806465	A	AAAATGAATGTGAAGACCCCAGCCAG	G47806491A	MSH6	NM_000179.3(MSH6):c.3816_3840dup:p.Glu1281delinsLysTer	coding	Pathogenic
2	47806466	A	AAATG	T47806475A	MSH6	NM_000179.2(MSH6):c.3817_3820AATG[3]:p.Cys1275Ter	coding	Pathogenic
2	47806476	G	GAAGA	C47806481A	MSH6	NM_000179.2(MSH6):c.3827_3830dup:p.Asp1277fs	coding	Pathogenic
2	47806479	GACCC	G	A47806480C	MSH6	NM_000179.2(MSH6):c.3830_3833del:p.Asp1277fs	coding	Pathogenic
2	47806480	A	ACCCCAGC	A47806489C	MSH6	NM_000179.3(MSH6):c.3832_3838dup:p.Gln1280fs	coding	Pathogenic
2	47806485	A	AGCCAGGAGACTATT	A47806500G	MSH6	NM_000179.2(MSH6):c.3836_3849dup:p.Thr1284fs	coding	Pathogenic
2	47806488	C	CA	G47806490A	MSH6	NM_000179.3(MSH6):c.3839dup:p.Glu1281fs	coding	Pathogenic
2	47806489	AGGAGACT	A	G47806490A	MSH6	NM_001281492.1(MSH6):c.3450_3456del:p.Glu1151fs	coding	Pathogenic
2	47806490	G	GGAGACTA	T47806498G	MSH6	NM_000179.2(MSH6):c.3841_3847dup:p.Ile1283fs	coding	Pathogenic/Likely_pathogenic
2	47806495	C	CT	A47806497T	MSH6	NM_000179.2(MSH6):c.3846dup:p.Ile1283fs	coding	Pathogenic
2	47806495	C	CTATT	A47806500T	MSH6	NM_000179.2(MSH6):c.3846_3849dup:p.Thr1284fs	coding	Pathogenic
2	47806496	T	TATTA	C47806501A	MSH6	NM_001281492.1(MSH6):c.3457_3460dup:p.Thr1154fs	coding	Pathogenic
2	47806497	AT	A	T47806499A	MSH6	NM_000179.2(MSH6):c.3849del:p.Thr1284fs	coding	Pathogenic
2	47806497	ATTAC	TA	A47806497T	MSH6	NM_000179.2(MSH6):c.3847_3851delinsTA:p.Ile1283_Thr1284delinsTer	coding	Pathogenic
2	47806498	T	TTACGTTCC	C47806508A	MSH6	NM_000179.2(MSH6):c.3850_3857dup:p.Tyr1287fs	coding	Pathogenic
2	47806499	T	TA	C47806501A	MSH6	NM_000179.2(MSH6):c.3850dup:p.Thr1284fs	coding	Pathogenic/Likely_pathogenic
2	47806499	T	TACGTTCCTCTATAAATTCATTA	G47806523C	MSH6	NM_000179.2(MSH6):c.3851_3872dup:p.Lys1291delinsAsnValProLeuTer	coding	Pathogenic
2	47806501	C	CATTA	G47806502A	MSH6	NM_000179.2(MSH6):c.3851_3852insATTA:p.Phe1285fs	coding	Pathogenic
2	47806501	C	TTAAT	C47806501T	MSH6	NM_001281492.1(MSH6):c.3461delinsTTAAT:p.Thr1154fs	coding	Pathogenic
2	47806502	G	GT	C47806505T	MSH6	NM_000179.2(MSH6):c.3854dup:p.Leu1286fs	coding	Benign
2	47806502	GTTCCTCTA	G	T47806504A	MSH6	NM_000179.2(MSH6):c.3854_3861del:p.Thr1284_Phe1285insTer	coding	Pathogenic
2	47806511	T	TA	T47806515A	MSH6	NM_000179.2(MSH6):c.3864dup:p.Phe1289fs	coding	Pathogenic
2	47806512	A	AAAT	T47806516A	MSH6	NM_000179.3(MSH6):c.3863_3865dup:p.Phe1289Ter	coding	Pathogenic
2	47806512	A	AAATT	C47806517A	MSH6	NM_000179.2(MSH6):c.3863_3866dup:p.Phe1289fs	coding	Pathogenic
2	47806525	GAGCTTGTCCTAAA	G	T47806530A	MSH6	NM_000179.2(MSH6):c.3880_3892del:p.Cys1294fs	coding	Pathogenic
2	47806526	A	AGCTT	T47806532C	MSH6	NM_001281492.1(MSH6):c.3488_3491dup:p.Pro1165fs	coding	Pathogenic/Likely_pathogenic
2	47806531	GT	G	T47806532C	MSH6	NM_000179.2(MSH6):c.3882del:p.Pro1295fs	coding	Pathogenic
2	47806533	CCTAAAAG	C	A47806537T	MSH6	NM_001281492.1(MSH6):c.3497_3503del:p.Lys1166fs	coding	Pathogenic
2	47806538	A	AAGCTATGGCTTTAATGCAGCAAGGCTTGCTAATCTCCC	A47806579C	MSH6	NM_000179.3(MSH6):c.3891_3928dup:p.Glu1310fs	coding	Pathogenic
2	47806542	T	TA	T47806544A	MSH6	NM_000179.2(MSH6):c.3893dup:p.Tyr1298Ter	coding	Pathogenic
2	47806544	T	TGGCTTTAATGCAGCAAGGCTTGCTAATCTCCCAGA	A47806582C	MSH6	NM_000179.2(MSH6):c.3897_3931dup:p.Glu1311fs	coding	Pathogenic
2	47806545	G	GGCTTTAATGCAGCAAGGCTTGC	T47806568G	MSH6	NM_000179.2(MSH6):c.3896_3917dup:p.Asn1307_Leu1308insLeuTer	coding	Pathogenic
2	47806558	C	CA	G47806561A	MSH6	NM_000179.3(MSH6):c.3910dup:p.Arg1304fs	coding	Pathogenic
2	47806565	T	TGCTAA	T47806571G	MSH6	NM_000179.3(MSH6):c.3916_3920dup:p.Asn1307fs	coding	Pathogenic
2	47806566	G	GCTAATCTCCCAGAGGAAGTTAT	T47806589C	MSH6	NM_000179.2(MSH6):c.3917_3938dup:p.Gln1314_Lys1315insTer	coding	Pathogenic
2	47806567	C	CT	A47806569T	MSH6	NM_001281492.1(MSH6):c.3528dup:p.Asn1177Ter	coding	Pathogenic
2	47806568	TA	T	A47806570T	MSH6	NM_000179.2(MSH6):c.3920del:p.Asn1307fs	coding	Pathogenic
2	47806568	T	TAATCTCCC	G47806578A	MSH6	NM_001281492.1(MSH6):c.3530_3537dup:p.Glu1180fs	coding	Pathogenic
2	47806571	T	TCTCCCAGAGGAAGTTATTC	A47806591C	MSH6	NM_000179.2(MSH6):c.3922_3940dup:p.Gln1314fs	coding	Pathogenic
2	47806571	T	TCTCCCAGAGGAAGTTATTCAAAA	G47806595C	MSH6	NM_000179.2(MSH6):c.3922_3944dup:p.Lys1315fs	coding	Pathogenic/Likely_pathogenic
2	47806576	C	CAGAGGAAGTTATTCAAAAGGGACATAGAAAA	G47806608A	MSH6	NM_000179.2(MSH6):c.3927_3957dup:p.Ala1320delinsArgGlySerTyrSerLysGlyThrTer	coding	Pathogenic
2	47806576	C	CGAGA	A47806577G	MSH6	NM_000179.2(MSH6):c.3926_3927insGAGA:p.Glu1310fs	coding	Pathogenic
2	47806579	A	AGGAAGTTATTCAAAAGGGACATAGAAAAGCAAGAGAATTTG	A47806621G	MSH6	NM_000179.2(MSH6):c.3930_3970dup:p.Glu1324fs	coding	Pathogenic
2	47806579	A	AGGAAGTTATTCAAAAGGGACATAGAAAAGCAAGAGAATTTGAGAAGATG	A47806629G	MSH6	NM_000179.2(MSH6):c.3930_3978dup:p.Asn1327delinsGlySerTyrSerLysGlyThrTer	coding	Pathogenic
2	47806579	AG	A	G47806581A	MSH6	NM_000179.2(MSH6):c.3931del:p.Glu1311fs	coding	Pathogenic
2	47806581	G	GAAGT	T47806586A	MSH6	NM_001281492.1(MSH6):c.3542_3545dup:p.Ile1183fs	coding	Pathogenic
2	47806582	A	AAGTT	T47806588G	MSH6	NM_000179.3(MSH6):c.3934_3937dup:p.Ile1313fs	coding	Pathogenic
2	47806583	AGT	CA	A47806583C	MSH6	NM_000179.3(MSH6):c.3933_3935delinsCA:p.Glu1311fs	coding	Pathogenic
2	47806584	G	GTTATTCAAAAGGGACATAGA	A47806605T	MSH6	NM_000179.2(MSH6):c.3935_3954dup:p.Lys1319fs	coding	Pathogenic
2	47806584	GTTATTCAAAAGGGACA	G	T47806586A	MSH6	NM_000179.2(MSH6):c.3936_3951del:p.Ile1313fs	coding	Pathogenic/Likely_pathogenic
2	47806586	T	TATTC	A47806592T	MSH6	NM_001281492.1(MSH6):c.3548_3551dup:p.Gln1184fs	coding	Pathogenic
2	47806587	A	AT	C47806590T	MSH6	NM_000179.2(MSH6):c.3939dup:p.Gln1314fs	coding	Pathogenic
2	47806588	T	TTC	A47806591T	MSH6	NM_000179.2(MSH6):c.3939_3940dup:p.Gln1314fs	coding	Pathogenic/Likely_pathogenic
2	47806588	T	TTCAAAAGGGACATAGAAAA	G47806608T	MSH6	NM_001281492.1(MSH6):c.3549_3567dup:p.Ala1190delinsSerLysGlyThrTer	coding	Pathogenic
2	47806589	T	TTCAAAAGGGACATAGAAAA	C47806590T	MSH6	NM_000179.2(MSH6):c.3939_3940insTCAAAAGGGACATAGAAAA:p.Gln1314delinsSerLysGlyThrTer	coding	Pathogenic
2	47806590	CAAAAGGGACATAG	C	G47806596C	MSH6	NM_000179.2(MSH6):c.3946_3958del:p.Gly1316fs	coding	Pathogenic
2	47806598	ACATAGAAAAG	A	T47806601A	MSH6	NM_000179.2(MSH6):c.3951_3960del:p.His1317fs	coding	Pathogenic
2	47806599	CAT	C	T47806601G	MSH6	NM_000179.2(MSH6):c.3951_3952del:p.His1317fs	coding	Pathogenic
2	47806599	C	CAT	G47806603T	MSH6	NM_000179.3(MSH6):c.3951_3952dup:p.Arg1318fs	coding	Pathogenic
2	47806600	A	AT	A47806602T	MSH6	NM_000179.2(MSH6):c.3951dup:p.Arg1318Ter	coding	Pathogenic
2	47806601	TAGAAAAGCAAGAGAATTTG	T	A47806606G	MSH6	NM_000179.2(MSH6):c.3956_3974del:p.Lys1319fs	coding	Pathogenic
2	47806603	GAAAAGCAAGAGAATTTGAGAAGATGA	G	A47806605T	MSH6	NM_000179.2(MSH6):c.3955_3980del:p.Lys1319fs	coding	Pathogenic
2	47806603	GA	G	A47806607G	MSH6	NM_000179.2(MSH6):c.3957del:p.Ala1320fs	coding	Pathogenic
2	47806603	G	GAA	G47806608A	MSH6	NM_000179.2(MSH6):c.3956_3957dup:p.Ala1320fs	coding	Pathogenic
2	47806603	G	GA	G47806608A	MSH6	NM_000179.2(MSH6):c.3957dup:p.Ala1320fs	coding	Pathogenic
2	47806605	AAAGC	A	C47806609A	MSH6	NM_001281492.1(MSH6):c.3569_3572del:p.Ala1190fs	coding	Pathogenic
2	47806609	C	CAAGA	G47806614A	MSH6	NM_000179.2(MSH6):c.3960_3963dup:p.Glu1322fs	coding	Pathogenic
2	47806610	A	AAGAG	A47806616G	MSH6	NM_000179.3(MSH6):c.3962_3965dup:p.Phe1323fs	coding	Pathogenic
2	47806614	G	GA	T47806617A	MSH6	NM_000179.3(MSH6):c.3966dup:p.Phe1323fs	coding	Pathogenic
2	47806618	TTGAGAAGA	T	G47806622A	MSH6	NM_000179.2(MSH6):c.3972_3979del:p.Lys1325fs	coding	Pathogenic
2	47806618	TTGAGAAGATGA	T	T47806619A	MSH6	NM_001281492.1(MSH6):c.3579_3589del:p.Phe1193fs	coding	Pathogenic
2	47806628	G	GAATC	G47806634A	MSH6	NM_001281492.1(MSH6):c.3590_3593dup:p.Leu1200fs	coding	Pathogenic
2	47806628	G	GA	T47806631A	MSH6	NM_001281492.1(MSH6):c.3590dup:p.Asn1197fs	coding	Pathogenic
2	47806630	A	ATCAG	C47806638G	MSH6	NM_000179.2_(MSH6):c.3984_3987dupGTCA:p.Leu1330Valfs	coding	Pathogenic
2	47806634	G	GATCA	T47806635A	MSH6	NM_000179.2(MSH6):c.3984_3985insATCA:p.Ser1329fs	coding	Pathogenic
2	47806645	T	TATTTC	G47806651A	MSH6	NM_001281492.1(MSH6):c.3606_3610dup:p.Arg1204fs	coding	Pathogenic
2	47806646	A	AT	C47806650T	MSH6	NM_000179.3(MSH6):c.3999dup:p.Arg1334fs	coding	Pathogenic/Likely_pathogenic
2	47806652	G	GTAAC	T47806667A	MSH6	NM_000179.3(MSH6):c.4001+2TAAC[4]	noncoding	Benign/Likely_benign
2	47806699	C	CAA	G47806703A	MSH6	NM_000179.3(MSH6):c.4001+50_4001+51dup	noncoding	Benign
2	47806748	AAACTTTTTTTTTTTTTTTTTTAA	TTAAAAAAAAAAAAAAAAAAGTTT	A47806748T	MSH6	NM_000179.3(MSH6):c.4002-31_4002-8inv	noncoding	Pathogenic
2	47806750	A	ACTT	T47806754C	MSH6	NM_000179.3(MSH6):c.4002-28_4002-26dup	noncoding	Benign
2	47806751	C	CT	A47806770T	MSH6	NM_000179.3(MSH6):c.4002-10dup	noncoding	Benign
2	47806751	C	CTT	A47806770T	MSH6	NM_000179.2(MSH6):c.4002-11_4002-10dup	noncoding	Benign
2	47806751	C	CTTCT	T47806754C	MSH6	NM_000179.3(MSH6):c.4002-26_4002-25insCTTT	noncoding	Benign
2	47806751	C	CTTT	A47806770T	MSH6	NM_000179.2(MSH6):c.4002-12_4002-10dup	noncoding	Benign
2	47806751	C	CTTTT	A47806770T	MSH6	NM_000179.2(MSH6):c.4002-13_4002-10dup	noncoding	Benign
2	47808162	CAT	C	T47808166G	FBXO11	NM_001190274.2(FBXO11):c.2738_2739del:p.Leu912_Tyr913insTer	coding	Pathogenic/Likely_pathogenic
2	47808192	C	CA	C47808194A	FBXO11	NM_025133.4(FBXO11):c.2457dup:p.Glu820Ter	coding	Pathogenic
2	47808198	CTAAT	C	T47808199G	FBXO11	NM_001190274.2(FBXO11):c.2700_2703del:p.Ala902fs	coding	Pathogenic
2	47808215	GAC	G	C47808217G	FBXO11	NM_001190274.2(FBXO11):c.2685_2686del:p.Leu895_Ser896insTer	coding	Pathogenic
2	47818873	TA	T	A47818888G	FBXO11	NM_001190274.2(FBXO11):c.1921-10del	noncoding	Benign
2	47835986	C	CTGATATATATATATATCAGGATATATATATCG	A47835987T	FBXO11	NM_001190274.2(FBXO11):c.602_603insCGATATATATATCCTGATATATATATATATCA:p.Met201fs	coding	Pathogenic
2	47839417	A	AC	T47839420C	FBXO11	NM_001190274.1(FBXO11):c.442+1dup	noncoding	Pathogenic
2	48507361	TA	T	A48507363G	PPP1R21	NM_001135629.3(PPP1R21):c.2063del:p.Lys688fs	coding	Pathogenic
2	48755616	G	GGCTGCA	A48755625T	LHCGR	NM_000233.4(LHCGR):c.50_55dup:p.Leu17_Gln18dup	coding	Benign
2	49920973	A	AAAGT	T49920980G	NRXN1	NM_001330078.2(NRXN1):c.*967_*970dup	noncoding	Benign
2	50053522	AG	A	G50053525C	NRXN1	NM_001330078.2(NRXN1):c.3876del:p.Phe1293fs	coding	Pathogenic
2	50346870	GCGCCGCCGCCGCCGC	G	G50346887C	NRXN1	NM_138735.4(NRXN1):c.49[5]:p.Gly17[5]	coding	Benign
2	50346870	GCGCCGCCGC	G	G50346893C	NRXN1	NM_138735.4(NRXN1):c.49GGC[7]:p.Gly17[7]	coding	Benign
2	50496086	AT	A	T50496087G	NRXN1	NM_001330078.2(NRXN1):c.2888del:p.His963fs	coding	Pathogenic
2	50620918	G	GC	T50620920C	NRXN1	NM_001330078.2(NRXN1):c.1158+307dup	noncoding	Benign
2	51026308	TACTTTAAATCCTGACATCTCCTACTTAGCCACTGATTCGTCTTTTTCACACCACTCACTCACTTTCTGTTAGAGGCTTTGCTGTATTTATACAACAGTATTTTCCTTGGTCATTGTCATGTAACAGCACCGGCAAAACACACTGAAGACCGAATTTTATTTCTAAAGAGGAGAAAAGAGAACTTAGGTATGACTTTTGTAGTTTAATGCCACACTGTTTTAAGCCCCAAGAACCACAGAAATTACAACTTGGCCTCCACTACCCAGATAAATGTCATTAGCCGAATATCCTTAGAAAATCTCTTGCAATCCCTTACATGCATCCCTGTTTATTAGTCTGCAGAAGCTTCCCAATCCAGCAACATCTAAATTTCTCTACTACTTTATTTCTCTTTATAAGGCATTTGTTAATTAAGAAATCTTATTTAATCTCTAACATTTTTAAACGTCAGCTGACCTCACACTTCAAGAAACCGCATAAATGACAAAATTTTACTTAAATTTCACAAATGTTGGACTTGGATATAACAGTGGAAACCAACATTATTCCAAAAAGCCTCCTGCTAATGAAGAAACGCTTCACATCCTCTCTTTCCCTTTTTCCACAACGAAAAGCAGGTTTTTACCGCTCTATCTGCAAAAGGCAGAGCACTGCCCGTGAACCCTGTCTTTCTCGTCCTTTACCACGAGTGACCAGAACCACGTGGGGATTCTCAACCACGGCCGTGGTATACCTCTCCTGTGCTTCATTTCTCATCAAACACATGCCCAATCTTCTAGATGCTTGTTTGCATCTTAAGGGCAAAGTCTGTGTGTTACAGATTTAGAAGTGGTAGAGACAAGTACAGTGGTCATATAGGTGGGCCGCGGCCCAATATAGGGCCCAACCTGCCAAAGAACCCGAGGAATAAGAAGAGGCCATTGTATTTGCCACTTGGAAGGGAGTAGTGTTGGTAGAAAGGTCTCCAGAAGGAACTCAAACTTGGATATGGGGGCTGCCAATCCTTAGGAGGATGTCAAGGGAGAAGCTGTGGAGGTGGTAAGGTAGAGAGTCCCCCAGAAACAAGGTCCTTCCCTCGAAGCGAACTGCCACACGTTTGCCAAGATTAGGAAGACCCCATGCACCAGCCCGGTCCCCTCCTCCCCGAGCCCCGCCCAGGCCCCGGCCCCCGTGGGTCGGGCGTCGGGCCTTACCTTGGCTGCAGTCCTTGCCGCGGAAGCCGGTTCGCGAGCAGTCGCACACGGCCTGGTCGTCCACCACGGAGCACACACCTCCGTTGAGGCACACCCCGCCCTCGCCCTCCTCGCCCGCCTCGCACGGGCTTCCCCCGCCGCTGTTGGGCGGCTCATCGTCCAGCTTCACCTCGCCGCTGTCCACGGGCAGGACCTGCGAGGAGTTGACCCTCACGTCACGAATCCACCCCTTGAAGGGCTCCCGCTCCCTCACCGAGGCCAGGGTGAGCTTGAGCGCCGCGGCGCGCAGTTCCGGGGGCAGCCCCCCGACGAAAAGGCCGCTGAACACCGTCATGTCCCTGCGCTTGGACTTGACCTCCACCCACTTGGCCTCCACCTGGTCGATGAAGAGCGTGGTGTTGCGGAACTGGCGGCGGATGCGCACGCTGTGCCAGGCGCCGTCGTTAACCGGCGTGTCGGCCAGGAGCGTCGCAGGCTCAGCGCAGAAGATGGAGAAGCTGAGCTGCAGGCGGCCGCCGCGCGTCAGAATCAGCTCCAGGAAGTCGCAGAAGCCCTCGTCGTCGAAGTAGAGCACGAGGCCGCGGGCGCTGCGAGTCTTGAGCTGGAAGCTCATCTCGCTCTCGCAGCAGGCGTTCCACTTGGGGAAGCGCGTCCATTGGCCCTCGGCGCCCGGAAACTCCAGCCCGCTGCCCAGCTCCGCCCAGCAGCCCAGGAGCAGCAGCGAGAGGCACAGAAGAAAACAGCCCCCGCGCTGGAGCAGCGCCGTCCCCATGCTCGGGGCTGGGGTGCGGCGGGGGGGTGCCGGGGCCGACAGGGTCAAAATGGTCCTGG	T	T51026311A	NRXN1	NM_001330078.2(NRXN1):c.-59_772+1193del	noncoding	Pathogenic
2	51027539	GCAGTC	CCAG	G51027539C	NRXN1	NM_001330078.2(NRXN1):c.730_735delinsCTGG:p.Asp244fs	coding	Pathogenic
2	51027827	C	CACCG	T51027832A	NRXN1	NM_001330078.2(NRXN1):c.443_446dup:p.Phe150fs	coding	Pathogenic
2	54255566	GGGGCCC	G	G54255579A	TSPYL6	NM_001003937.3(TSPYL6):c.568_573GGGCCC[2]:p.188_189GP[3]	coding	Benign
2	55249466	GCTCTTTTTTCA	G	C55249469T	MTIF2	NM_002453.3(MTIF2):c.899_909del:p.Val300fs	coding	Pathogenic
2	55334505	TA	T	A55334508G	CCDC88A	NM_001365480.1(CCDC88A):c.2315del:p.Thr771_Leu772insTer	coding	Pathogenic
2	55636225	T	TA	T55636237A	PNPT1	NM_033109.5(PNPT1):c.*11dup	noncoding	Benign
2	55637603	G	GA	T55637613A	PNPT1	NM_033109.5(PNPT1):c.2149-13dup	noncoding	Benign
2	55646394	CA	C	A55646398T	PNPT1	NM_033109.5(PNPT1):c.1674+20del	noncoding	Benign
2	55666991	CTG	C	G55666995T	PNPT1	NM_033109.5(PNPT1):c.1172_1173CA[1]:p.Gln392fs	coding	Pathogenic
2	55673096	G	GA	T55673107A	PNPT1	NM_033109.5(PNPT1):c.680-27dup	noncoding	Benign
2	55686136	AT	A	T55686137C	PNPT1	NM_033109.5(PNPT1):c.297+233del	noncoding	Benign
2	55867066	GA	G	A55867070G	EFEMP1	NM_001039348.3(EFEMP1):c.*6del	noncoding	Benign
2	55876756	T	TTA	G55876772A	EFEMP1	NM_001039348.3(EFEMP1):c.761-28TA[8]	noncoding	Benign
2	55917857	TTGCCA	T	C55917861T	EFEMP1	NM_001039348.3(EFEMP1):c.320_324del:p.Met107fs	coding	Pathogenic
2	58163446	CAAGA	C	A58163452G	FANCL	NM_001114636.1(FANCL):c.770_773TCTT[1]:p.Phe258fs	coding	Pathogenic
2	58163468	C	CAT	G58163472T	FANCL;VRK2	NM_018062.4(FANCL):c.739_740dup:p.Met247fs	coding	Pathogenic
2	58204162	CTCTACCAGAAGCA	C	A58204166T	FANCL	NM_001114636.1(FANCL):c.426_438del:p.Asp142fs	coding	Pathogenic
2	58204170	GA	G	A58204172G	FANCL	NM_001114636.1(FANCL):c.430del:p.Ser144fs	coding	Pathogenic
2	58222018	CTT	C	T58222019G	FANCL	NM_018062.4(FANCL):c.296_297del:p.Gln99fs	coding	Pathogenic
2	58226732	AG	A	G58226733C	FANCL	NM_001114636.1(FANCL):c.268del:p.Leu90fs	coding	Pathogenic
2	58241273	A	AG	C58241279G	FANCL	NM_001114636.1(FANCL):c.40dup:p.Leu14fs	coding	Pathogenic
2	58241273	AG	A	G58241278C	FANCL	NM_018062.4(FANCL):c.40del:p.Leu14fs	coding	Pathogenic
2	60461136	G	GCCA	G60461139A	BCL11A	NM_022893.4(BCL11A):c.1775_1776insTGG:p.Gly592dup	coding	Pathogenic
2	60461170	TGGCCCTC	T	C60461175T	BCL11A	NM_022893.4(BCL11A):c.1735_1741del:p.Glu579fs	coding	Pathogenic
2	60461278	TC	T	C60461279G	BCL11A	NM_022893.4(BCL11A):c.1633del:p.Asp545fs	coding	Pathogenic
2	60461280	GGGCAGGGCGCGGCTCTCGTCGCCCACGCCCA	G	G60461281C	BCL11A	NM_022893.4(BCL11A):c.1601_1631del:p.Val534fs	coding	Pathogenic/Likely_pathogenic
2	60461623	T	TTGTG	C60461628T	BCL11A	NM_022893.4(BCL11A):c.1285_1286CA[4]:p.Lys430fs	coding	Pathogenic
2	60461828	G	GAGGGAGGGGGGGCGTCGCC	A60461851G	BCL11A	NM_022893.4(BCL11A):c.1065_1083dup:p.Pro362fs	coding	Pathogenic
2	60461833	A	AG	C60461841G	BCL11A	NM_022893.4(BCL11A):c.1078dup:p.Leu360fs	coding	Pathogenic
2	60461833	AG	A	G60461840C	BCL11A	NM_022893.4(BCL11A):c.1078del:p.Leu360fs	coding	Pathogenic
2	60462118	A	AG	A60462126G	BCL11A	NM_022893.4(BCL11A):c.793dup:p.Leu265fs	coding	Pathogenic
2	60462268	GAAGGGATACCA	G	A60462270C	BCL11A	NM_022893.4(BCL11A):c.633_643del:p.Gly212fs	coding	Pathogenic
2	60468797	CGAGGG	C	G60468802A	BCL11A	NM_022893.4(BCL11A):c.417_421del:p.Pro140fs	coding	Pathogenic
2	60546041	G	GA	C60546043A	BCL11A	NM_022893.4(BCL11A):c.314dup:p.Thr106fs	coding	Pathogenic
2	60546060	AC	A	C60546061G	BCL11A	NM_022893.4(BCL11A):c.295del:p.Val99fs	coding	Pathogenic/Likely_pathogenic
2	60553251	C	CCTTGCTTG	G60553261T	BCL11A	NM_022893.4(BCL11A):c.12_15CAAG[4]:p.Gly7fs	coding	Pathogenic
2	60782678	TAA	T	A60782679T	PAPOLG	NM_022894.4(PAPOLG):c.1028-7_1028-6del	noncoding	Benign
2	60782680	A	ATTTTTTTTTTTTTT	A60782684T	PAPOLG	NM_022894.4(PAPOLG):c.1028-3_1028-2insTTTTTTTTTTTTTT	noncoding	Benign
2	61836057	CT	C	T61836058C	FAM161A	NM_001201543.2(FAM161A):c.1803del:p.Glu602fs	coding	Pathogenic
2	61838585	TGA	T	A61838587T	FAM161A	NM_001201543.2(FAM161A):c.1702_1703del:p.Ser568fs	coding	Pathogenic
2	61839502	CA	C	A61839503T	FAM161A	NM_001201543.2(FAM161A):c.1501del:p.Cys501fs	coding	Pathogenic
2	61839543	AC	A	C61839544G	FAM161A	NM_001201543.2(FAM161A):c.1460del:p.Arg487fs	coding	Pathogenic
2	61839647	CTG	C	G61839649T	FAM161A	NM_001201543.2(FAM161A):c.1355_1356del:p.Thr452fs	coding	Pathogenic
2	61839682	T	TG	T61839684G	FAM161A	NM_001201543.2(FAM161A):c.1321dup:p.His441fs	coding	Pathogenic
2	61839773	ACCTGGGGTTCCTG	CTACATCCTGAACCTA	A61839773C	FAM161A	NM_001201543.2(FAM161A):c.1218_1231delinsTAGGTTCAGGATGTAG:p.Asn408_Cys411delinsPheArgMetTer	coding	Pathogenic
2	61839969	A	AG	A61839970G	FAM161A	NM_001201543.2(FAM161A):c.1034_1035insC:p.Leu346fs	coding	Pathogenic
2	61840022	T	TAAATTTAA	T61840032A	FAM161A	NM_001201543.2(FAM161A):c.974_981dup:p.Ile328fs	coding	Pathogenic
2	61840031	ATGGC	A	G61840033T	FAM161A	NM_001201543.2(FAM161A):c.969_972del:p.Lys323fs	coding	Pathogenic
2	61840273	AT	A	T61840276G	FAM161A	NM_001201543.2(FAM161A):c.730del:p.Gln243_Met244insTer	coding	Pathogenic
2	61840322	TCTTC	T	C61840327T	FAM161A	NM_001201543.2(FAM161A):c.674_677GAAG[1]:p.Lys227fs	coding	Pathogenic/Likely_pathogenic
2	61842207	AT	A	T61842211G	FAM161A	NM_001201543.2(FAM161A):c.336del:p.Lys112fs	coding	Pathogenic
2	63121380	CTT	C	T63121400G	WDPCP	NM_015910.7(WDPCP):c.*624_*625del	noncoding	Benign
2	63259346	C	CTCTT	T63259352C	WDPCP	NM_015910.7(WDPCP):c.1872_1875dup:p.Ala626fs	coding	Pathogenic
2	63404134	GAA	G	A63404136C	WDPCP	NM_015910.7(WDPCP):c.1347_1348del:p.Gln451fs	coding	Pathogenic
2	63437500	CAT	C	T63437502G	WDPCP	NM_015910.7(WDPCP):c.552_553del:p.Cys185fs	coding	Pathogenic
2	63437526	TAA	T	A63437527G	WDPCP	NM_015910.7(WDPCP):c.526_527del:p.Leu176fs	coding	Pathogenic/Likely_pathogenic
2	63439873	TA	T	A63439877C	WDPCP	NM_015910.7(WDPCP):c.385-3del	noncoding	Benign/Likely_benign
2	65016582	CTT	C	T65016583A	SLC1A4	NM_003038.5(SLC1A4):c.944_945del:p.Leu315fs	coding	Pathogenic
2	65017689	AATCATAGTTTACCATTTACTTTTGGGAGGGGAACACTCAAGAGAGGAGATGCACATGTAGAGAAACTAGTTGTTTGTTCTCTCGGGAACGTTTTGCACCGGGAGGCAATGTGCAGTTCTTAAGAAACTTGGAACACGTGAATCCAAGTAAATGACAGAATAGGTAAATGAAGGCAGTCATATTTTAAGTATCTTGGGAGTTGCCAAAGCCTCATGTTGTGACAGAAGTTTTAAAGTGATTCTGTTTTTTCCCTTATTTCAAGAGAAGAAAGCCAGAAACGAAGATGGTGCTAATTGCTCTGTTCTGGGGTCTGAGACAAGACACATGTTAGCCTGCCTCGGACTGTTGTCATGTCTGGCGGTTTGTTTTTCCCATTTCTAGCTCAGCGACCCTTCCCTCTATGATGAAGTGCATTGAAGAGAACAATGGTGTGGACAAGAGGATCAGCAGGTTTATTCTCCCCATCGGGGCCACCGTGAACATGGACGGAGCAGCCATCTTCCAGTGTGTGGCCGCGGTGTTCATTGCGCAACTCAACAACGTAGAGCTCAACGCAGGACAGATTTTCACCATTCTGTAAGTTCCTCATTCTTTCCCTGGCTCAAAACTGAAGGCTTTTCTTGTGATTTCCTTTGAAAAACCAATCTCACCACAACTTGGTGTCTCGCTCATAAAATGAGGACAGTGGGGATTCATTACTTGAAGAGCGTGTGTTGACTCTCAAGGGCGTAGCCAGCAGAGCCTATGGTGGGGCGGTTTTTAGTTTCCAGCCACATTGCAGCT	A	A65017690G	SLC1A4	NM_003038.5(SLC1A4):c.1035-381_1230-73del	noncoding	Pathogenic
2	65072937	AAGG	A	G65072943A	CEP68	NM_015147.3(CEP68):c.1844_1846GAG[1]:p.Gly616del	coding	Benign
2	69338431	TA	T	A69338435T	GFPT1	NM_002056.4(GFPT1):c.1270+13del	noncoding	Benign/Likely_benign
2	69354552	AC	A	C69354553A	GFPT1	NM_002056.4(GFPT1):c.621del:p.Leu207_Leu208insTer	coding	Pathogenic
2	69363669	C	CT	C69363671T	GFPT1	NM_001244710.2(GFPT1):c.224dup:p.Gln76fs	coding	Pathogenic
2	69370022	CCTTAA	C	A69370026T	GFPT1	NM_002056.4(GFPT1):c.197_201del:p.Val66fs	coding	Pathogenic
2	69374030	CCA	C	C69374031G	GFPT1	NM_001244710.2(GFPT1):c.89_90del:p.Leu30fs	coding	Pathogenic
2	70229320	TA	T	A70229332T	TIA1	NM_022173.4(TIA1):c.223-3del	noncoding	Benign
2	70785602	CTGT	C	G70785607A	FIGLA	NM_001004311.3(FIGLA):c.416_418ACA[1]:p.Asn140del	coding	Pathogenic
2	70790602	CGGCGCGGGGATCTAGGACGCCG	C	A70790612T	FIGLA	NM_001004311.3(FIGLA):c.15_36del:p.Gly6fs	coding	Pathogenic
2	70835702	G	GC	T70835705C	CD207	NM_015717.4(CD207):c.73dup:p.Glu25Glyfs	noncoding	Benign
2	70935981	TG	C	T70935981C	ATP6V1B1	NM_001692.4(ATP6V1B1):c.27_28delinsC:p.Leu12fs	coding	Pathogenic
2	70935981	TG	T	G70935987C	ATP6V1B1	NM_001692.4(ATP6V1B1):c.33del:p.Leu12fs	coding	Pathogenic
2	70958053	AG	A	G70958054T	ATP6V1B1	NM_001692.4(ATP6V1B1):c.183del:p.Gln61fs	coding	Pathogenic
2	70959989	AC	A	C70959990G	ATP6V1B1	NM_001692.4(ATP6V1B1):c.497del:p.Thr166fs	coding	Pathogenic
2	70963255	GT	G	T70963256G	ATP6V1B1	NM_001692.4(ATP6V1B1):c.1004del:p.Val335fs	coding	Pathogenic
2	70963633	CA	C	A70963634G	ATP6V1B1	NM_001692.4(ATP6V1B1):c.1123del:p.Arg375fs	coding	Pathogenic
2	70964442	A	AC	A70964450C	ATP6V1B1	NM_001692.4(ATP6V1B1):c.1155dup:p.Ile386fs	coding	Pathogenic
2	70964442	AC	A	C70964449A	ATP6V1B1	NM_001692.4(ATP6V1B1):c.1155del:p.Ile386fs	coding	Pathogenic
2	70964840	GT	G	T70964843G	ATP6V1B1	NM_001692.4(ATP6V1B1):c.1356del:p.Phe452fs	coding	Pathogenic
2	71480899	CAA	C	A71480901G	DYSF	NM_001130987.2(DYSF):c.110_111del:p.Lys37fs	coding	Pathogenic
2	71481896	C	CA	G71481899A	DYSF	NM_001130987.2(DYSF):c.167dup:p.Ile58fs	coding	Pathogenic
2	71481934	TG	AT	T71481934A	DYSF	NM_001130987.2(DYSF):c.203_204delinsAT:p.Val68Asp	coding	Pathogenic
2	71503279	TC	T	C71503280A	DYSF	NM_001130987.2(DYSF):c.306del:p.Phe102fs	coding	Pathogenic
2	71503315	CA	C	A71503316G	DYSF	NM_001130987.2(DYSF):c.342del:p.Ala116fs	coding	Pathogenic
2	71511816	GT	G	T71511817C	DYSF	NM_001130987.2(DYSF):c.356del:p.Val119fs	coding	Pathogenic
2	71511854	GCC	G	C71511857T	DYSF	NM_001130987.2(DYSF):c.396_397del:p.Leu133fs	coding	Pathogenic
2	71513840	G	GC	A71513845C	DYSF	NM_001130987.2(DYSF):c.682dup:p.His228fs	coding	Pathogenic
2	71513891	GC	G	C71513892T	DYSF	NM_001130987.2(DYSF):c.730del:p.Leu244fs	coding	Pathogenic
2	71516180	ACT	A	C71516183T	DYSF	NM_001130987.2(DYSF):c.890_891CT[1]:p.Leu298fs	coding	Pathogenic
2	71516183	CTT	C	T71516186C	DYSF	NM_001130987.2(DYSF):c.895_896del:p.Phe299fs	coding	Pathogenic
2	71516209	TG	T	G71516213A	DYSF	NM_001130987.2(DYSF):c.922del:p.Glu308fs	coding	Pathogenic
2	71516241	CG	C	G71516243T	DYSF	NM_001130987.2(DYSF):c.951+1del	coding	Pathogenic
2	71517031	GA	G	A71517032G	DYSF	NM_001130987.2(DYSF):c.995del:p.Glu332fs	coding	Pathogenic
2	71517035	TC	T	C71517037G	DYSF	NM_001130987.2(DYSF):c.1000del:p.Arg334fs	coding	Pathogenic
2	71520847	GGC	G	G71520848C	DYSF	NM_001130987.2(DYSF):c.1093_1094del:p.Ala365fs	coding	Pathogenic
2	71520870	GC	G	C71520872T	DYSF	NM_001130987.2(DYSF):c.1117del:p.Leu373fs	coding	Pathogenic
2	71526233	AC	A	C71526237T	DYSF	NM_001130987.2(DYSF):c.1167del:p.Ser390fs	coding	Pathogenic
2	71526259	GA	G	A71526262G	DYSF	NM_001130987.2(DYSF):c.1192del:p.Ser398fs	coding	Pathogenic
2	71526282	AGGCGTAGCCCTGCGAGGAGCCCACTTCTGCCTGAAGGT	A	G71526283C	DYSF	NM_001130987.2(DYSF):c.1213_1250del:p.Gly405fs	coding	Pathogenic
2	71526328	GC	G	C71526330G	DYSF	NM_001130987.2(DYSF):c.1260del:p.Glu421fs	coding	Pathogenic
2	71526332	A	AGGACTTGCCGCAGAG	T71526348G	DYSF	NM_001130987.2(DYSF):c.1263_1276+1dup	coding	Pathogenic
2	71526335	A	ACTTGCCGCAGAGTG	G71526351T	DYSF	NM_001130987.2(DYSF):c.1267_1276+4dup	coding	Pathogenic
2	71528367	AC	A	C71528371T	DYSF	NM_001130987.2(DYSF):c.1350del:p.Phe451fs	coding	Pathogenic
2	71535264	TCA	T	C71535265G	DYSF	NM_001130987.2(DYSF):c.1450-3_1450-2del	noncoding	Pathogenic
2	71535283	G	GA	T71535290A	DYSF	NM_001130987.2(DYSF):c.1471dup:p.Met491fs	coding	Pathogenic
2	71535305	T	TA	G71535307A	DYSF	NM_001130987.2(DYSF):c.1488dup:p.Asp497fs	coding	Pathogenic
2	71539197	CTGAG	C	G71539199A	DYSF	NM_001130987.2(DYSF):c.1536_1539del:p.Ser513fs	coding	Pathogenic
2	71539222	CT	C	T71539223G	DYSF	NM_001130987.2(DYSF):c.1560del:p.Gly521fs	coding	Pathogenic
2	71539223	TG	T	G71539225A	DYSF	NM_001130987.2(DYSF):c.1562del:p.Gly521fs	coding	Pathogenic
2	71551052	C	CTGGG	C71551057T	DYSF	NM_001130987.2(DYSF):c.1589_1592dup:p.Phe532fs	coding	Pathogenic
2	71551605	A	AG	A71551611G	DYSF	NM_001130987.1(DYSF):c.1696dup:p.Glu566Glyfs	noncoding	Pathogenic
2	71551605	AG	A	G71551610A	DYSF	NM_003494.3(DYSF):c.1642delG:p.Glu548Lysfs	noncoding	Pathogenic
2	71551680	A	ATTCT	G71551681T	DYSF	NM_001130987.2(DYSF):c.1766_1767insTTCT:p.Lys589fs	coding	Pathogenic
2	71553037	CCT	C	C71553038G	DYSF	NM_001130987.2(DYSF):c.1834_1835del:p.Leu612fs	coding	Pathogenic
2	71553124	CA	C	A71553126G	DYSF	NM_001130987.2(DYSF):c.1922del:p.Lys641fs	coding	Pathogenic
2	71553804	CA	C	A71553805G	DYSF	NM_001130987.2(DYSF):c.1985-2del	noncoding	Pathogenic/Likely_pathogenic
2	71553891	TC	T	C71553892G	DYSF	NM_001130987.2(DYSF):c.2070del:p.Ile690fs	coding	Pathogenic
2	71553909	TG	T	G71553910C	DYSF	NM_001130987.2(DYSF):c.2088del:p.Ile699fs	coding	Pathogenic
2	71556055	CTCATC	GCTCA	C71556055G	DYSF	NM_001130987.2(DYSF):c.2200_2205delinsGCTCA:p.Leu734fs	coding	Pathogenic
2	71561940	AGGAGG	A	G71561941T	DYSF	NM_001130987.2(DYSF):c.2406_2409+1del	coding	Pathogenic
2	71564072	G	GC	G71564075C	DYSF	NM_001130987.2(DYSF):c.2426dup:p.Asp810fs	coding	Pathogenic
2	71564171	CT	C	T71564172G	DYSF	NM_001130987.2(DYSF):c.2524del:p.Cys842fs	coding	Pathogenic
2	71564194	TACAG	T	G71564198A	DYSF	NM_001130987.2(DYSF):c.2550_2553del:p.Thr851fs	coding	Pathogenic
2	71568031	G	GA	G71568034A	DYSF	NM_001130987.2(DYSF):c.2648dup:p.Glu884fs	coding	Pathogenic
2	71568230	A	AC	A71568235C	DYSF	NM_001130987.2(DYSF):c.2760dup:p.Lys921fs	coding	Pathogenic
2	71568304	TG	T	G71568307C	DYSF	NM_003494.3(DYSF):c.2779del:p.Ala927Leufs	coding	Pathogenic
2	71569866	G	GT	G71569868T	DYSF	NM_001130987.2(DYSF):c.2912dup:p.Phe972fs	coding	Pathogenic
2	71569875	AACCAG	A	A71569879C	DYSF	NM_001130987.2(DYSF):c.2924_2928del:p.Gln975fs	coding	Pathogenic
2	71570242	TG	T	G71570243C	DYSF	NM_001130987.2(DYSF):c.2994del:p.Leu999fs	coding	Pathogenic
2	71570616	A	AC	A71570619C	DYSF	NM_001130987.1(DYSF):c.3105dup(p.Ile1036Hisfs	coding	Pathogenic/Likely_pathogenic
2	71570713	ATC	A	T71570716A	DYSF	NM_001130987.2(DYSF):c.3201_3202TC[1]:p.Leu1068fs	coding	Pathogenic
2	71574204	C	CAGGCGG	G71574220C	DYSF	NM_001130987.2(DYSF):c.3239_3244CGGAGG[3]:p.1080_1081AE[3]	coding	Benign/Likely_benign
2	71574238	CCT	C	C71574243T	DYSF	NM_001130987.2(DYSF):c.3270_3271CT[2]:p.Leu1092fs	coding	Pathogenic
2	71574346	CTG	C	G71574350T	DYSF	NM_001130987.2(DYSF):c.3379_3380GT[1]:p.Phe1128fs	coding	Pathogenic
2	71589610	CAA	C	A71589611G	DYSF	NM_001130987.2(DYSF):c.3421_3422del:p.Lys1141fs	coding	Pathogenic
2	71589626	A	AT	G71589628T	DYSF	NM_003494.3(DYSF):c.3383dup:p.Met1128Ilefs	coding	Pathogenic
2	71589671	TC	T	C71589673T	DYSF	NM_001130987.2(DYSF):c.3483del:p.Cys1162fs	coding	Pathogenic
2	71590212	TG	AA	T71590212A	DYSF	NM_001130987.2(DYSF):c.3498_3499delinsAA:p.Tyr1166_Gly1167delinsTer	coding	Pathogenic
2	71590230	AC	A	C71590231G	DYSF	NM_001130987.2(DYSF):c.3517del:p.Arg1173fs	coding	Pathogenic
2	71590271	A	AC	A71590273C	DYSF	NM_003494.3(DYSF):c.3504dup:p.Lys1169Glnfs	coding	Pathogenic
2	71590277	ACT	A	C71590280T	DYSF	NM_001130987.2(DYSF):c.3564_3565CT[1]:p.Ser1189fs	coding	Pathogenic
2	71590280	C	CT	C71590286T	DYSF	NM_001130987.2(DYSF):c.3571dup:p.Ser1191fs	coding	Pathogenic
2	71590280	CTT	C	T71590284C	DYSF	NM_001130987.2(DYSF):c.3570_3571del:p.Phe1190_Ser1191insTer	coding	Pathogenic
2	71598682	GC	G	C71598684G	DYSF	NM_001130987.2(DYSF):c.3695del:p.Pro1232fs	coding	Pathogenic
2	71600706	CA	C	A71600707G	DYSF	NM_001130987.2(DYSF):c.3762del:p.Asp1255fs	coding	Pathogenic/Likely_pathogenic
2	71600729	ATC	A	C71600731G	DYSF	NM_001130987.2(DYSF):c.3786_3787del:p.Ile1262fs	coding	Pathogenic
2	71600799	C	CG	A71600805G	DYSF	NM_001130987.2(DYSF):c.3859dup:p.Glu1287fs	coding	Pathogenic
2	71611518	CT	C	T71611519C	DYSF	NM_001130987.2(DYSF):c.4114del:p.Ser1372fs	coding	Pathogenic
2	71611582	CG	C	G71611584A	DYSF	NM_001130987.2(DYSF):c.4179del:p.Lys1394fs	coding	Pathogenic/Likely_pathogenic
2	71612666	G	GC	A71612674C	DYSF	NM_001130987.2(DYSF):c.4254dup:p.Ile1419fs	coding	Pathogenic
2	71612734	A	AC	A71612737C	DYSF	NM_001130987.2(DYSF):c.4317dup:p.Ile1440fs	coding	Pathogenic
2	71613363	G	GAC	G71613366A	DYSF	NM_001130987.2(DYSF):c.4418_4419dup:p.Val1474fs	coding	Pathogenic
2	71644047	AT	A	T71644051G	DYSF	NM_001130987.2(DYSF):c.4614del:p.Phe1538fs	coding	Pathogenic
2	71658886	CA	C	A71658890T	DYSF	NM_001130987.2(DYSF):c.4768del:p.Ile1590fs	coding	Pathogenic
2	71658923	A	AT	G71658925T	DYSF	NM_001130987.2(DYSF):c.4802dup:p.Met1601fs	coding	Pathogenic
2	71660586	AG	A	G71660589A	DYSF	NM_001130987.2(DYSF):c.4941del:p.Lys1648fs	coding	Pathogenic
2	71660637	GCCCG	CCCC	G71660637C	DYSF	NM_001130987.2(DYSF):c.4989_4993delinsCCCC:p.Glu1663fs	coding	Pathogenic
2	71664400	GT	G	T71664403G	DYSF	NM_001130987.2(DYSF):c.5139del:p.Phe1713fs	coding	Pathogenic/Likely_pathogenic
2	71664417	G	GACTCCCACAGACCTACTGTGTGT	G71664443T	DYSF	NM_001130987.2(DYSF):c.5156_5174+4dup	coding	Pathogenic
2	71665185	AC	A	C71665187A	DYSF	NM_001130987.2(DYSF):c.5200del:p.Gln1734fs	coding	Pathogenic
2	71667462	GA	G	A71667463G	DYSF	NM_001130987.2(DYSF):c.5405del:p.Glu1802fs	coding	Pathogenic
2	71667490	G	GC	T71667496C	DYSF	NM_001130987.2(DYSF):c.5437dup:p.Leu1813fs	coding	Pathogenic
2	71668810	T	TCC	T71668814C	DYSF	NM_001130987.2(DYSF):c.5516_5517dup:p.Phe1840fs	coding	Pathogenic
2	71668823	AC	A	C71668827A	DYSF	NM_001130987.2(DYSF):c.5531del:p.Pro1844fs	coding	Pathogenic
2	71669671	AG	A	G71669673C	DYSF	NM_001130987.2(DYSF):c.5711del:p.Gly1904fs	coding	Pathogenic
2	71669718	CT	C	T71669719G	DYSF	NM_001130987.2(DYSF):c.5757del:p.Glu1920fs	coding	Pathogenic
2	71669723	CA	C	A71669725G	DYSF	NM_001130987.2(DYSF):c.5763del:p.Val1922fs	coding	Pathogenic
2	71674223	TGA	T	A71674227C	DYSF	NM_001130987.2(DYSF):c.5813_5814AG[1]:p.Ser1939fs	coding	Pathogenic
2	71679123	ACCAG	A	C71679125T	DYSF	NM_001130987.2(DYSF):c.5953_5956del:p.Gln1985fs	coding	Pathogenic
2	71679148	AG	CT	A71679148C	DYSF	NM_001130987.2(DYSF):c.5976_5977inv:p.Glu1993Ter	coding	Pathogenic
2	71681032	C	CA	G71681034A	DYSF	NM_001130987.2(DYSF):c.6096dup:p.Glu2033fs	coding	Pathogenic
2	71681035	A	AGAGTGAGC	A71681044G	DYSF	NM_001130987.2(DYSF):c.6099_6106dup:p.His2036fs	coding	Pathogenic
2	71681073	GATGAGCCCAAC	G	G71681078A	DYSF	NM_001130987.2(DYSF):c.6141_6151del:p.Pro2048_Asn2049insTer	coding	Pathogenic
2	71681101	AG	A	G71681103A	DYSF	NM_001130987.2(DYSF):c.6166del:p.Asp2056fs	coding	Pathogenic
2	71682613	TC	T	C71682614A	DYSF	NM_001130987.2(DYSF):c.6258del:p.Ile2087fs	coding	Pathogenic
2	71686463	GC	G	C71686465A	DYSF	NM_001130987.2(DYSF):c.6333del:p.Ala2111_Met2112insTer	coding	Pathogenic
2	72888453	CAACAG	C	A72888457C	SPR	NM_003124.5(SPR):c.448_452del:p.Thr151fs	coding	Pathogenic
2	72891345	AG	A	G72891347T	SPR	NM_003124.4(SPR):c.596del:p.Gly199Valfs	noncoding	Pathogenic
2	72891365	T	TG	C72891367G	SPR	NM_003124.5(SPR):c.615dup:p.Gln206fs	coding	Pathogenic
2	73385903	TGGAGGAGGAGGA	T	G73385931A	ALMS1	NM_015120.4(ALMS1):c.36_38GGA[10]:p.Glu26_Glu29del	coding	Benign/Likely_benign
2	73385903	TGGAGGA	T	G73385937A	ALMS1	NM_001378454.1(ALMS1):c.36_38GGA[11]:p.Glu27_Glu28del	coding	Benign
2	73385903	T	TGGAGGAGGAGGAGGA	A73385943G	ALMS1	NM_015120.4(ALMS1):c.66_77dup	coding	Benign
2	73385920	G	GAGGAGT	G73385926T	ALMS1	NM_015120.4(ALMS1):c.60_61insTAGGAG:p.Glu21Ter	coding	Pathogenic
2	73385927	AG	A	G73385929A	ALMS1	NM_015120.4(ALMS1):c.64del:p.Glu22fs	coding	Benign
2	73408654	GAT	G	T73408656G	ALMS1	NM_015120.4(ALMS1):c.362_363del:p.Ile121fs	coding	Pathogenic/Likely_pathogenic
2	73408656	T	TAGTA	T73408661A	ALMS1	NM_015120.4(ALMS1):c.363_366dup:p.Tyr123fs	coding	Pathogenic
2	73419218	TG	T	G73419219A	ALMS1	NM_015120.4(ALMS1):c.550del:p.Glu184fs	coding	Pathogenic
2	73419221	AG	A	G73419222T	ALMS1	NM_001378454.1(ALMS1):c.550del:p.Glu183_Val184insTer	coding	Pathogenic
2	73419230	C	CT	C73419233T	ALMS1	NM_015120.4(ALMS1):c.563dup:p.Ser190fs	coding	Pathogenic
2	73424467	TCTC	T	C73424468G	ALMS1	NM_015120.4(ALMS1):c.806_808del:p.Ser269_Arg270delinsTer	coding	Pathogenic/Likely_pathogenic
2	73424636	TTTCGTCTG	T	C73424639G	ALMS1	NM_001378454.1(ALMS1):c.974_981del:p.Ile324_Ser325insTer	coding	Pathogenic
2	73424670	CTG	C	T73424673A	ALMS1	NM_001378454.1(ALMS1):c.1006_1007TG[1]:p.Cys336_Asp337delinsTer	coding	Pathogenic
2	73424857	TGGACACA	T	C73424861A	ALMS1	NM_015120.4(ALMS1):c.1199_1205del:p.Thr400fs	coding	Pathogenic/Likely_pathogenic
2	73426450	TAGAGGGCCTGCAGGGGAAGGTTGAGTCTGACGTCATTACTCTGGATGGCCTAAATGAAAATGCTGTTGTATGCAGTGAAAGAGTTGCTGAACTACAAAGAA	T	A73426453G	ALMS1	NM_015120.4(ALMS1):c.1241_1341del	noncoding	Pathogenic
2	73432259	CTG	C	T73432262C	ALMS1	NM_001378454.1(ALMS1):c.1403_1404del:p.Val468fs	coding	Pathogenic
2	73448097	TCTC	T	C73448101T	ALMS1	NM_015120.4(ALMS1):c.1574_1576CTC[1]:p.Pro526del	coding	Benign/Likely_benign
2	73448097	T	TCTC	T73448104C	ALMS1	NM_015120.4(ALMS1):c.1577_1579dup:p.Pro526_Leu527insPro	coding	Benign
2	73448127	A	AC	T73448129C	ALMS1	NM_001378454.1(ALMS1):c.1601dup:p.Thr534_Asp535insTer	coding	Pathogenic
2	73448258	TA	T	A73448259G	ALMS1	NM_015120.4(ALMS1):c.1735del:p.Arg579fs	coding	Pathogenic/Likely_pathogenic
2	73448315	A	AGAGGCTTT	A73448326G	ALMS1	NM_015120.4(ALMS1):c.1794_1801dup:p.Lys601delinsArgLeuTer	coding	Pathogenic
2	73448596	A	AT	C73448598T	ALMS1	NM_001378454.1(ALMS1):c.2070dup:p.Gln691fs	coding	Pathogenic
2	73448660	ACT	A	C73448665A	ALMS1	NM_015120.4(ALMS1):c.2137_2138CT[2]:p.Ser714fs	coding	Pathogenic
2	73448691	C	CT	C73448692T	ALMS1	NM_001378454.1(ALMS1):c.2164_2165insT:p.Pro722fs	coding	Pathogenic
2	73448697	A	AT	A73448704T	ALMS1	NM_015120.4(ALMS1):c.2179dup:p.Tyr727fs	coding	Pathogenic/Likely_pathogenic
2	73448795	AC	A	C73448797A	ALMS1	NM_015120.4(ALMS1):c.2273del:p.Pro758fs	coding	Pathogenic
2	73448799	GCA	G	C73448800G	ALMS1	NM_001378454.1(ALMS1):c.2273_2274del:p.Ala758fs	coding	Pathogenic
2	73449257	CAGAG	C	G73449261A	ALMS1	NM_001378454.1(ALMS1):c.2734_2737del:p.Glu912fs	coding	Pathogenic
2	73449423	CA	C	A73449424G	ALMS1	NM_001378454.1(ALMS1):c.2897del:p.Gln966fs	coding	Pathogenic
2	73449482	T	TTGAC	G73449483T	ALMS1	NM_001378454.1(ALMS1):c.2955_2956insTGAC:p.Gly986Ter	coding	Pathogenic
2	73449537	TCA	T	C73449540T	ALMS1	NM_001378454.1(ALMS1):c.3011_3012CA[1]:p.Ser1004_His1005insTer	coding	Pathogenic
2	73449542	T	TA	G73449544A	ALMS1	NM_015120.4(ALMS1):c.3019dup:p.Arg1007fs	coding	Pathogenic
2	73449564	TATCA	T	T73449566C	ALMS1	NM_001378454.1(ALMS1):c.3039_3042del:p.Gln1014fs	coding	Pathogenic
2	73449646	CTGAGA	C	G73449648A	ALMS1	NM_001378454.1(ALMS1):c.3121_3125del:p.Glu1041fs	coding	Pathogenic
2	73449675	T	TA	C73449677A	ALMS1	NM_001378454.1(ALMS1):c.3149dup:p.Tyr1050Ter	coding	Pathogenic
2	73449822	CAA	C	A73449824G	ALMS1	NM_015120.4(ALMS1):c.3300_3301del:p.Lys1103fs	coding	Pathogenic
2	73449822	CA	C	A73449825G	ALMS1	NM_001378454.1(ALMS1):c.3298del:p.Arg1100fs	coding	Pathogenic
2	73450047	G	GT	A73450050T	ALMS1	NM_001378454.1(ALMS1):c.3522dup:p.Thr1175fs	coding	Pathogenic
2	73450097	CT	C	T73450099C	ALMS1	NM_015120.4(ALMS1):c.3575del:p.Phe1192fs	coding	Pathogenic/Likely_pathogenic
2	73450213	CTG	C	T73450214G	ALMS1	NM_015120.4(ALMS1):c.3690_3691del:p.Gly1231fs	coding	Pathogenic/Likely_pathogenic
2	73450679	T	TA	C73450681A	ALMS1	NM_015120.4(ALMS1):c.4156dup:p.Thr1386fs	coding	Pathogenic
2	73450815	TCACA	T	C73450820G	ALMS1	NM_015120.4(ALMS1):c.4292_4293CA[2]:p.His1432fs	coding	Pathogenic
2	73451171	C	CA	G73451173A	ALMS1	NM_015120.4(ALMS1):c.4648dup:p.Arg1550fs	coding	Pathogenic
2	73451340	GA	G	A73451347G	ALMS1	NM_001378454.1(ALMS1):c.4820del:p.Lys1607fs	coding	Pathogenic
2	73451340	G	GA	G73451348A	ALMS1	NM_001378454.1(ALMS1):c.4820dup:p.Thr1608fs	coding	Pathogenic
2	73451436	CTAAA	C	T73451441G	ALMS1	NM_015120.4(ALMS1):c.4913_4916TAAA[1]:p.Asn1639fs	coding	Pathogenic
2	73451528	TA	T	A73451529G	ALMS1	NM_001378454.1(ALMS1):c.5002del:p.Arg1668fs	coding	Pathogenic
2	73451577	TTACCTGA	T	T73451578A	ALMS1	NM_001378454.1(ALMS1):c.5051_5057del:p.His1683_Leu1684insTer	coding	Pathogenic
2	73451694	C	CA	C73451697A	ALMS1	NM_001378454.1(ALMS1):c.5169dup:p.Gln1724fs	coding	Pathogenic/Likely_pathogenic
2	73451698	A	AG	C73451701G	ALMS1	NM_001378454.1(ALMS1):c.5173dup:p.Ala1725fs	coding	Pathogenic
2	73451700	G	GC	T73451704C	ALMS1	NM_015120.4(ALMS1):c.5179dup:p.Leu1727fs	coding	Pathogenic/Likely_pathogenic
2	73452153	A	AT	A73452155T	ALMS1	NM_015120.4(ALMS1):c.5630dup:p.Gly1878fs	coding	Pathogenic
2	73452257	GC	G	C73452259A	ALMS1	NM_015120.4(ALMS1):c.5735del:p.Pro1912fs	coding	Pathogenic
2	73452449	AG	A	G73452450A	ALMS1	NM_015120.4(ALMS1):c.5926del:p.Glu1976fs	coding	Pathogenic
2	73452690	A	AAT	T73452695A	ALMS1	NM_015120.4(ALMS1):c.6167_6168AT[3]:p.Leu2058fs	coding	Pathogenic
2	73452726	CAAAGT	C	T73452731G	ALMS1	NM_001378454.1(ALMS1):c.6204_6208del:p.Ser2068fs	coding	Pathogenic
2	73452897	AT	A	T73452899C	ALMS1	NM_015120.4(ALMS1):c.6375del:p.Pro2126fs	coding	Pathogenic
2	73452934	C	CACCT	G73452936C	ALMS1	NM_015120.4(ALMS1):c.6411_6412insCCTA:p.Ala2138fs	coding	Pathogenic
2	73453092	TACTC	T	T73453095A	ALMS1	NM_015120.4(ALMS1):c.6571_6574del:p.Ser2191fs	coding	Pathogenic
2	73453112	CA	C	A73453114G	ALMS1	NM_015120.4(ALMS1):c.6590del:p.Lys2197fs	coding	Pathogenic
2	73453370	T	TC	T73453375C	ALMS1	NM_015120.4(ALMS1):c.6850dup:p.Leu2284fs	coding	Pathogenic
2	73453479	CACAG	C	A73453484C	ALMS1	NM_015120.4(ALMS1):c.6960_6963del	coding	Pathogenic/Likely_pathogenic
2	73453613	TC	T	C73453614T	ALMS1	NM_015120.4(ALMS1):c.7090del:p.Leu2364fs	coding	Pathogenic
2	73453825	CAG	C	A73453828T	ALMS1	NM_015120.4(ALMS1):c.7304_7305del	coding	Pathogenic
2	73453897	CAG	C	G73453899T	ALMS1	NM_015120.4(ALMS1):c.7375_7376del:p.Thr2458_Asp2459insTer	coding	Pathogenic
2	73455273	GA	G	A73455275G	ALMS1	NM_015120.4(ALMS1):c.7657del:p.Arg2553fs	coding	Pathogenic
2	73490097	CCTCCATCA	C	C73490100T	ALMS1	NM_015120.4(ALMS1):c.8144_8151del:p.Ser2715fs	coding	Pathogenic/Likely_pathogenic
2	73490345	C	CA	T73490351A	ALMS1	NM_015120.4(ALMS1):c.8394dup:p.Leu2799fs	coding	Pathogenic
2	73490748	TTG	T	T73490749A	ALMS1	NM_001378454.1(ALMS1):c.8790_8791del:p.Phe2930fs	coding	Pathogenic
2	73491070	TC	T	C73491072T	ALMS1	NM_015120.4(ALMS1):c.9116del:p.Pro3039fs	coding	Pathogenic
2	73491149	T	TA	T73491150A	ALMS1	NM_001378454.1(ALMS1):c.9190_9191insA:p.Leu3064fs	coding	Pathogenic
2	73491208	TA	T	A73491210C	ALMS1	NM_015120.4(ALMS1):c.9254del:p.Asn3085fs	coding	Pathogenic
2	73491377	CAG	C	A73491378G	ALMS1	NM_015120.4(ALMS1):c.9422_9423del:p.Gln3141fs	coding	Pathogenic
2	73491385	G	GA	C73491390A	ALMS1	NM_015120.4(ALMS1):c.9433dup:p.Thr3145fs	coding	Pathogenic
2	73534870	G	GTATT	A73534875T	ALMS1	NM_015120.4(ALMS1):c.9832_9835dup:p.Tyr3279fs	coding	Pathogenic
2	73534938	G	GC	T73534940C	ALMS1	NM_015120.4(ALMS1):c.9900dup:p.Ser3301fs	coding	Pathogenic/Likely_pathogenic
2	73557266	C	CA	C73557273A	ALMS1	NM_015120.4(ALMS1):c.10134dup:p.Gln3379fs	coding	Pathogenic/Likely_pathogenic
2	73557286	A	AC	A73557288C	ALMS1	NM_015120.4(ALMS1):c.10149dup:p.Ser3384fs	coding	Pathogenic/Likely_pathogenic
2	73559058	C	GA	C73559058G	ALMS1	NM_015120.4(ALMS1):c.10303delinsGA:p.Gln3435fs	coding	Pathogenic
2	73572303	GT	G	T73572304C	ALMS1	NM_001378454.1(ALMS1):c.10427del:p.Val3476fs	coding	Pathogenic
2	73572441	CAT	C	T73572443G	ALMS1	NM_001378454.1(ALMS1):c.10566_10567del:p.His3522fs	coding	Pathogenic
2	73572545	CAAAG	C	A73572548G	ALMS1	NM_001378454.1(ALMS1):c.10671_10674del:p.Lys3557_Glu3558insTer	coding	Pathogenic
2	73572552	GT	G	T73572553G	ALMS1	NM_015120.4(ALMS1):c.10679del:p.Val3560fs	coding	Pathogenic
2	73572648	AC	A	C73572649A	ALMS1	NM_001378454.1(ALMS1):c.10772del:p.Thr3591fs	coding	Pathogenic
2	73572661	CTG	C	T73572664A	ALMS1	NM_015120.4(ALMS1):c.10788_10789TG[1]:p.Val3597fs	coding	Pathogenic
2	73572669	TTGAA	T	T73572674C	ALMS1	NM_015120.4(ALMS1):c.10800_10803del	coding	Pathogenic/Likely_pathogenic
2	73572702	CAG	C	A73572705G	ALMS1	NM_015120.4(ALMS1):c.10829_10830AG[1]:p.Arg3611fs	coding	Pathogenic
2	73572989	GAGGTCTAATCAAATTAAAA	G	A73572990T	ALMS1	NM_015120.4(ALMS1):c.11116_11134del:p.Arg3706fs	coding	Pathogenic
2	73573042	GTA	G	T73573043A	ALMS1	NM_001378454.1(ALMS1):c.11166_11167del:p.Ser3722fs	coding	Pathogenic
2	73573183	CAGAT	C	T73573187G	ALMS1	NM_001378454.1(ALMS1):c.11310_11313del:p.Asp3770fs	coding	Pathogenic
2	73573183	CAG	C	G73573185T	ALMS1	NM_015120.4(ALMS1):c.11311_11312del:p.Thr3770_Asp3771insTer	coding	Pathogenic
2	73573187	TAGAG	T	A73573190G	ALMS1	NM_015120.4(ALMS1):c.11316_11319del	coding	Pathogenic
2	73573255	CT	C	T73573259G	ALMS1	NM_015120.4(ALMS1):c.11385del:p.Phe3795fs	coding	Pathogenic
2	73573268	AAG	A	A73573271T	ALMS1	NM_015120.4(ALMS1):c.11395_11396AG[1]:p.Arg3799fs	coding	Pathogenic
2	73573291	GAATTA	G	A73573297T	ALMS1	NM_015120.4(ALMS1):c.11418_11422AATTA[1]:p.Lys3808fs	coding	Pathogenic
2	73573323	CAG	C	A73573326G	ALMS1	NM_015120.4(ALMS1):c.11450_11451AG[1]:p.Arg3818fs	coding	Pathogenic
2	73599426	ACT	A	C73599429A	ALMS1	NM_001378454.1(ALMS1):c.11574_11575CT[1]:p.Ser3859fs	coding	Pathogenic
2	73599465	ACT	A	C73599468A	ALMS1	NM_015120.4(ALMS1):c.11618_11619del	coding	Pathogenic
2	73599496	CAT	C	A73599497G	ALMS1	NM_015120.4(ALMS1):c.11647_11648del:p.Met3883fs	coding	Pathogenic
2	73599501	T	TGTTA	A73599502G	ALMS1	NM_015120.4(ALMS1):c.11651_11652insGTTA:p.Asn3885fs	coding	Pathogenic
2	73600721	TGTTG	T	T73600723G	ALMS1	NM_015120.4(ALMS1):c.11717_11720del:p.Val3906fs	coding	Pathogenic/Likely_pathogenic
2	73600731	AC	A	C73600732T	ALMS1	NM_015120.4(ALMS1):c.11726del:p.Thr3909fs	coding	Pathogenic
2	73600794	TCAGAAGA	CCGGAAT	T73600794C	ALMS1	NM_001378454.1(ALMS1):c.11785_11792delinsCCGGAAT:p.Ser3929fs	coding	Pathogenic
2	73600814	G	GA	T73600819A	ALMS1	NM_015120.4(ALMS1):c.11812dup:p.Met3938fs	coding	Pathogenic/Likely_pathogenic
2	73601362	CG	C	G73601366C	ALMS1	NM_001378454.1(ALMS1):c.12044del:p.Gly4015fs	coding	Pathogenic
2	73602167	CT	C	T73602177C	ALMS1	NM_001378454.1(ALMS1):c.12115-8del	noncoding	Benign
2	73603318	AAC	A	C73603320A	ALMS1	NM_001378454.1(ALMS1):c.12362+16_12362+17del	noncoding	Benign
2	73830962	TAC	AA	T73830962A	STAMBP	NM_213622.4(STAMBP):c.106_108delinsAA:p.Tyr36fs	coding	Pathogenic
2	73847420	GC	G	C73847422A	STAMBP	NM_213622.4(STAMBP):c.411del:p.Ile138fs	coding	Pathogenic
2	73847510	GAGATGATCCGGAACCAGGAGCT	G	T73847514A	STAMBP	NM_213622.4(STAMBP):c.503_524del:p.Met168fs	coding	Pathogenic
2	73916584	GC	AA	G73916584A	ACTG2	NM_001615.4(ACTG2):c.806_807delinsAA:p.Gly269Glu	coding	Pathogenic
2	73939017	CA	C	A73939022G	DGUOK	NM_080916.3(DGUOK):c.255del:p.Ala86fs	coding	Pathogenic
2	73939021	AA	T	A73939021T	DGUOK	NM_080916.3(DGUOK):c.254_255delinsT:p.Lys85fs	coding	Pathogenic
2	73946818	C	CT	G73946820T	DGUOK	NM_080916.3(DGUOK):c.356dup:p.Lys120fs	coding	Pathogenic
2	73957134	AAG	A	G73957138C	DGUOK	NM_080916.3(DGUOK):c.605_606del:p.Arg202fs	coding	Pathogenic
2	73957140	CTG	C	G73957142A	DGUOK	NM_080916.3(DGUOK):c.609_610del:p.Tyr204fs	coding	Pathogenic
2	73957238	GAAGT	G	A73957243G	DGUOK	NM_080916.3(DGUOK):c.707+3_707+6del	coding	Pathogenic
2	73958199	A	ATGAT	T73958205G	DGUOK	NM_080916.3(DGUOK):c.763_766dup:p.Phe256Ter	coding	Pathogenic
2	74047131	CA	C	A74047132T	TET3	NM_001287491.2(TET3):c.1215del:p.Trp406fs	coding	Pathogenic/Likely_pathogenic
2	74048150	CCT	C	C74048151G	TET3	NM_001287491.2(TET3):c.2234_2235del:p.Pro745fs	coding	Pathogenic
2	74101762	AGCCCACG	A	C74101765T	TET3	NM_001287491.2(TET3):c.4977_4983del:p.His1660fs	coding	Pathogenic/Likely_pathogenic
2	74142307	TCTC	T	C74142310T	BOLA3	NM_212552.3(BOLA3):c.220_222del:p.Glu74del	coding	Pathogenic
2	74145234	C	CT	G74145238T	BOLA3	NM_212552.3(BOLA3):c.123dup:p.Glu42fs	coding	Pathogenic
2	74461926	A	AG	C74461928G	MOGS	NM_006302.3(MOGS):c.1862dup:p.Ala621_Glu622insTer	coding	Pathogenic
2	74463319	AC	A	C74463320T	MOGS	NM_006302.3(MOGS):c.646del:p.Val216fs	coding	Pathogenic
2	74530927	TGC	CAT	T74530927C	HTRA2	NM_013247.4(HTRA2):c.728_730delinsCAT:p.Leu243_Pro244delinsProSer	coding	Pathogenic
2	74532919	GGCAGT	G	T74532924A	HTRA2	NM_032603.5(LOXL3):c.*682_*686del	coding	Pathogenic
2	74581766	C	CA	G74581768A	M1AP	NM_138804.4(M1AP):c.676dup:p.Trp226fs	coding	Pathogenic
2	84441270	GC	G	C84441273A	SUCLG1	NM_003849.4(SUCLG1):c.507del:p.Asn171fs	coding	Pathogenic
2	84441320	AC	TA	A84441320T	SUCLG1	NM_003849.4(SUCLG1):c.457_458delinsTA:p.Val153Ter	coding	Pathogenic
2	84449762	TAAAAA	T	A84449783G	SUCLG1	NM_003849.4(SUCLG1):c.98-15_98-11del	noncoding	Benign
2	84449762	TAAAA	T	A84449784G	SUCLG1	NM_003849.4(SUCLG1):c.98-14_98-11del	noncoding	Benign
2	84449762	TAAA	T	A84449785G	SUCLG1	NM_003849.4(SUCLG1):c.98-13_98-11del	noncoding	Benign
2	85344072	TCA	T	C85344073T	RETSAT	NM_017750.4(RETSAT):c.1458_1459del:p.Tyr486_Glu487delinsTer	coding	Benign
2	85401547	TG	T	G85401550A	CAPG	NM_001747.4(CAPG):c.332del:p.Pro111fs	coding	Benign
2	85666648	G	GTT	G85666649T	SFTPB	NM_000542.5(SFTPB):c.361_362insAA:p.Pro121fs	coding	Pathogenic
2	85666649	G	TTC	G85666649T	SFTPB	NM_000542.5(SFTPB):c.361delinsGAA:p.Pro121fs	coding	Pathogenic
2	85848142	TGTCTTGGCAAAC	CA	T85848142C	ST3GAL5	NM_003896.4(ST3GAL5):c.369_381delinsTG:p.Lys123fs	coding	Pathogenic
2	85848169	CT	C	T85848171C	ST3GAL5	NM_003896.4(ST3GAL5):c.353del:p.Lys118fs	coding	Pathogenic
2	85861179	AC	A	C85861181T	ST3GAL5	NM_003896.4(ST3GAL5):c.318+1del	noncoding	Pathogenic
2	85863443	CA	C	A85863445T	ST3GAL5	NM_003896.4(ST3GAL5):c.124del:p.Cys42fs	coding	Pathogenic
2	86040482	TG	T	G86040485C	POLR1A	NM_015425.6(POLR1A):c.3649del:p.Gln1217fs	coding	Pathogenic
2	86134952	C	CCT	T86134957C	PTCD3	NM_017952.6(PTCD3):c.1746_1747dup:p.Phe583fs	coding	Pathogenic
2	86214211	C	CTGTT	A86214216T	REEP1	NM_001371279.1(REEP1):c.*2824_*2827dup	noncoding	Benign
2	86214989	C	CA	T86215003A	REEP1	NM_001371279.1(REEP1):c.*2049dup	noncoding	Benign
2	86215023	CT	C	T86215046G	REEP1	NM_001371279.1(REEP1):c.*2015del	noncoding	Benign
2	86232707	TG	T	G86232713C	REEP1	NM_001371279.1(REEP1):c.512del:p.Pro171fs	coding	Pathogenic/Likely_pathogenic
2	86232718	AG	A	G86232721A	REEP1	NM_001371279.1(REEP1):c.501del:p.Ser168fs	coding	Pathogenic
2	86232724	CA	C	A86232725G	REEP1	NM_001371279.1(REEP1):c.495del:p.Ala166fs	coding	Pathogenic
2	86252026	ATCGTAACT	A	T86252030G	REEP1	NM_001371279.1(REEP1):c.340_347del:p.Ser114fs	coding	Pathogenic
2	86337544	G	GCGGCT	A86337555C	REEP1	NM_001371279.1(REEP1):c.-44_-40AGCCG[3]	coding	Benign
2	88585917	ATTTC	A	T88585922C	EIF2AK3	NM_004836.7(EIF2AK3):c.1566_1569GAAA[1]:p.Lys523_Glu524insTer	coding	Pathogenic
2	88585925	CCA	C	A88585927C	EIF2AK3	NM_004836.7(EIF2AK3):c.1564_1565del:p.Trp522fs	coding	Pathogenic
2	88590572	T	TA	G88590575A	EIF2AK3	NM_004836.7(EIF2AK3):c.1035dup:p.Lys346Ter	coding	Pathogenic
2	88627211	CCAG	C	A88627234G	EIF2AK3	NM_004836.7(EIF2AK3):c.40_42CTG[7]:p.Leu21del	coding	Benign
2	88737997	TG	T	G88738000A	RPIA	NM_144563.3(RPIA):c.762del:p.Asn255fs	coding	Pathogenic
2	96115238	CTCCTCCTCT	C	C96115250A	ADRA2B	NM_000682.7(ADRA2B):c.894_902AGAGGAGGA[1]:p.Glu307_Glu309del	coding	Benign
2	96123863	AT	A	T96123864C	ASTL	NM_001002036.3(ASTL):c.1282del:p.Met428fs	coding	Benign
2	96253970	TCCACCAGCTCCTG	T	C96253978G	TMEM127	NM_017849.4(TMEM127):c.542_554del:p.Ala181fs	coding	Pathogenic
2	96253992	T	TA	G96253994A	TMEM127	NM_017849.3(TMEM127):c.532dup:p.Tyr178fs	coding	Pathogenic/Likely_pathogenic
2	96253994	GA	G	A96253996G	TMEM127	NM_017849.4(TMEM127):c.530del:p.Phe177fs	coding	Pathogenic
2	96254844	TG	T	G96254847C	TMEM127	NM_017849.3(TMEM127):c.397del:p.His133fs	coding	Pathogenic
2	96254858	G	GC	G96254860C	TMEM127	NM_017849.4(TMEM127):c.383dup:p.Tyr129fs	coding	Pathogenic
2	96254904	AG	A	G96254905A	TMEM127	NM_017849.3(TMEM127):c.337del:p.Leu113fs	coding	Pathogenic
2	96254958	AC	A	C96254961G	TMEM127	NM_017849.3(TMEM127):c.283del:p.Val95fs	coding	Pathogenic
2	96254973	ACTGT	A	T96254977G	TMEM127	NM_017849.3(TMEM127):c.265_268del:p.Thr89fs	coding	Pathogenic
2	96254993	GA	G	A96254996T	TMEM127	NM_017849.3(TMEM127):c.248del:p.Phe83fs	coding	Pathogenic
2	96265256	CGT	C	T96265258A	TMEM127	NM_017849.3(TMEM127):c.124_125del:p.Thr42fs	coding	Pathogenic
2	96265261	TAGAC	T	A96265264G	TMEM127	NM_001193304.3(TMEM127):c.117_120del:p.Ile41fs	coding	Pathogenic
2	96265374	GC	G	C96265375G	TMEM127	NM_017849.3(TMEM127):c.7del:p.Ala3fs	coding	Pathogenic
2	96761278	CA	C	A96761279C	CNNM4	NM_020184.4(CNNM4):c.280del:p.Thr94fs	coding	Pathogenic
2	96761612	GGGCTTATG	A	G96761612A	CNNM4	NM_020184.4(CNNM4):c.613_621delinsA:p.Gly205fs	coding	Pathogenic
2	96762291	AC	A	C96762295G	CNNM4	NM_020184.4(CNNM4):c.1296del:p.Asp433fs	coding	Pathogenic
2	96762305	AC	A	C96762311T	CNNM4	NM_020184.4(CNNM4):c.1312del:p.Leu438fs	coding	Pathogenic
2	97735413	A	AT	G97735415T	ZAP70	NM_001079.3(ZAP70):c.1247dup:p.Met416fs	coding	Pathogenic
2	97735446	GT	G	T97735447C	ZAP70	NM_001079.3(ZAP70):c.1280del:p.Val427fs	coding	Pathogenic
2	97737782	TCAAGTGGTACGCA	T	A97737784C	ZAP70	NM_001079.3(ZAP70):c.1510_1522del:p.Lys504fs	coding	Pathogenic
2	98377690	CCACT	C	A98377692G	CNGA3	NM_001298.3(CNGA3):c.107_110del:p.His36fs	coding	Pathogenic
2	98389694	CCCGT	C	G98389697A	CNGA3	NM_001298.3(CNGA3):c.489_492del:p.Ser164fs	coding	Pathogenic
2	98389705	AC	A	C98389707T	CNGA3	NM_001298.3(CNGA3):c.499del:p.Leu167fs	coding	Pathogenic
2	98395947	C	CG	A98395949G	CNGA3	NM_001298.3(CNGA3):c.778dup:p.Asp260fs	coding	Pathogenic
2	98396101	CTCA	C	A98396110C	CNGA3	NM_001298.3(CNGA3):c.934_936ATC[2]:p.Ile314del	coding	Pathogenic
2	98396176	GT	G	T98396177C	CNGA3	NM_001298.3(CNGA3):c.1007del:p.Val336fs	coding	Pathogenic
2	98396280	A	AC	G98396287C	CNGA3	NM_001298.3(CNGA3):c.1116dup:p.Val373fs	coding	Pathogenic
2	98396462	AG	A	G98396464A	CNGA3	NM_001298.3(CNGA3):c.1294del:p.Asp432fs	coding	Pathogenic
2	98396480	TTA	AG	T98396480A	CNGA3	NM_001079878.2(CNGA3):c.1256_1258delinsAG:p.Val419fs	coding	Pathogenic
2	98396488	TG	T	G98396490T	CNGA3	NM_001298.3(CNGA3):c.1320del:p.Trp440fs	coding	Pathogenic
2	99105696	GC	G	C99105698T	TSGA10	NM_025244.4(TSGA10):c.211del:p.Ala71Hisfs	coding	Pathogenic
2	102176723	GA	G	A102176726C	IL1R1	NM_000877.4(IL1R1):c.1677del:p.Lys559fs	coding	Benign
2	104855706	GA	T	G104855706T	POU3F3	NM_006236.3(POU3F3):c.196_197delinsT:p.Asp66fs	coding	Pathogenic
2	104855901	GGCAGCCCCCA	G	C104855908A	POU3F3	NM_006236.3(POU3F3):c.398_407del:p.Pro133fs	coding	Pathogenic
2	108308425	GA	G	A108308426T	SULT1C2	NM_001056.4(SULT1C2):c.853del:p.Met285fs	coding	Benign
2	108763701	GC	TT	G108763701T	RANBP2	NM_006267.5(RANBP2):c.3162_3163delinsTT:p.Gln1054_Pro1055delinsHisSer	coding	Benign
2	108897059	CAA	C	A108897061G	EDAR	NM_022336.4(EDAR):c.1193_1194del:p.Leu397_Phe398insTer	coding	Pathogenic
2	108897084	GC	G	C108897089A	EDAR	NM_022336.4(EDAR):c.1169del:p.Gly390fs	coding	Pathogenic
2	108897084	G	GC	A108897090C	EDAR	NM_022336.4(EDAR):c.1169dup:p.Met391fs	coding	Pathogenic
2	108897164	AC	A	C108897165G	EDAR	NM_022336.4(EDAR):c.1089del:p.Tyr364fs	coding	Pathogenic
2	108897165	CG	C	G108897166T	EDAR	NM_022336.4(EDAR):c.1088del:p.Thr363fs	coding	Pathogenic
2	108906291	CT	C	T108906299C	EDAR	NM_022336.4(EDAR):c.1024+16del	noncoding	Benign
2	108907934	AGCCCTG	CGGGCTCCTCATCA	A108907934C	EDAR	NM_022336.4(EDAR):c.883_889delinsTGATGAGGAGCCCG:p.Gln295_Ser297delinsTer	coding	Pathogenic
2	108929269	GC	G	C108929272T	EDAR	NM_022336.4(EDAR):c.284del:p.Gly95fs	coding	Pathogenic
2	108929347	G	AA	G108929347A	EDAR	NM_022336.4(EDAR):c.207delinsTT:p.Gly70fs	coding	Pathogenic
2	108930249	ACAAAGGGGGGTGTTGTGG	A	A108930251C	EDAR	NM_022336.4(EDAR):c.52-25_52-8del	noncoding	Pathogenic
2	110123847	CA	C	A110123851G	NPHP1	NM_001128178.3(NPHP1):c.1977del:p.Phe659fs	coding	Pathogenic
2	110131769	CA	C	A110131771T	NPHP1	NM_000272.4(NPHP1):c.1719del:p.Ile573fs	coding	Pathogenic
2	110144559	GCT	G	T110144561A	NPHP1	NM_000272.4(NPHP1):c.1529_1530del:p.Glu510fs	coding	Pathogenic
2	110146751	AC	A	C110146752T	NPHP1	NM_000272.4(NPHP1):c.1520+1del	noncoding	Pathogenic
2	110160193	A	AG	A110160196G	NPHP1	NM_000272.4(NPHP1):c.1184dup:p.Leu396fs	coding	Pathogenic
2	110164609	CCA	C	C110164612G	NPHP1	NM_001128178.3(NPHP1):c.771+77_771+78del	coding	Pathogenic
2	110168520	G	GT	C110168529T	NPHP1	NM_000272.4(NPHP1):c.555dup:p.Pro186fs	coding	Pathogenic
2	110168520	GT	G	T110168528C	NPHP1	NM_001128178.3(NPHP1):c.555del:p.Lys185fs	coding	Pathogenic
2	110638152	GA	G	A110638153G	BUB1	NM_004336.5(BUB1):c.3069del:p.His1024fs	coding	Pathogenic
2	111847737	G	GT	A111847740T	ANAPC1	NM_022662.4(ANAPC1):c.1778dup:p.Asn593fs	coding	Pathogenic
2	111975319	TCA	T	C111975320G	MERTK	NM_006343.3(MERTK):c.992_993del:p.Ser331fs	coding	Pathogenic
2	111994252	AAG	A	A111994255C	MERTK	NM_006343.3(MERTK):c.1301_1302del:p.Glu434fs	coding	Pathogenic
2	111994287	CGA	C	A111994289C	MERTK	NM_006343.3(MERTK):c.1335_1336del:p.Ala446fs	coding	Pathogenic
2	112001285	CTGTAAG	ATATTA	C112001285A	MERTK	NM_006343.3(MERTK):c.1689_1690+5delinsATATTA	coding	Pathogenic
2	112003145	ATTGACAG	T	A112003145T	MERTK	NM_006343.3(MERTK):c.1744_1751delinsT:p.Val581_Ile582insTer	coding	Pathogenic
2	112010053	AGACAG	A	A112010057C	MERTK	NM_006343.3(MERTK):c.2070_2074del:p.Gly691fs	coding	Pathogenic
2	112021438	ACTGT	A	C112021443G	MERTK	NM_006343.3(MERTK):c.2207_2210CTGT[1]:p.Cys738fs	coding	Pathogenic
2	112021445	GT	G	T112021446G	MERTK	NM_006343.3(MERTK):c.2214del:p.Cys738fs	coding	Pathogenic
2	112021458	CG	C	G112021460C	MERTK	NM_006343.3(MERTK):c.2228del:p.Gly743fs	coding	Pathogenic
2	112756277	GTC	G	C112756279G	CKAP2L	NM_152515.5(CKAP2L):c.1092_1093del:p.Gln364fs	coding	Pathogenic
2	112756619	CT	C	T112756622G	CKAP2L	NM_152515.5(CKAP2L):c.751del:p.Ser251fs	coding	Pathogenic
2	112756799	A	AT	A112756801T	CKAP2L	NM_152515.5(CKAP2L):c.571dup:p.Ile191fs	coding	Pathogenic
2	112756815	CTT	C	T112756817G	CKAP2L	NM_152515.5(CKAP2L):c.554_555del:p.Lys185fs	coding	Pathogenic
2	112756885	ACATTTACCATTTCCTTGATCTGTTAACTGCTGCTTTGTAGTTTTCAATTGCTCTATATTAAGTGACCCCACAGGTTTTCTTGACAGTTCTCCTGTTGTGGACGATCCAGCTTCACACTGTTGAAAACTCTTGCTAGAAGGCTTAGAGTATGGGTTAGAAGAAACACATTCTGAAGTCAGCCTTTTGCCCAGAAGTTTTGGTGGCTCCAACTTCGGCTTCTGGGACCCTGCAGTATTAGGTGGTCTGGGCTGGAGTTTAATGCTGATGGACCTTTTAGGTTTGACAGGCAAAACAACATGGTTGGTAACATCATTTTTGGGTCTAATAGT	A	A112756887T	CKAP2L	NM_001304361.2(CKAP2L):c.-280-59_-11del	coding	Pathogenic
2	112762528	C	CAA	C112762529A	CKAP2L	NM_152515.5(CKAP2L):c.78_79insTT:p.Gly27fs	coding	Pathogenic
2	113242709	CAG	C	A113242710G	PAX8	NM_003466.4(PAX8):c.457_458del:p.Leu153fs	coding	Pathogenic
2	113942363	A	AT	A113942372T	ACTR3	NM_005721.5(ACTR3):c.858+12dup	noncoding	Benign
2	119437075	A	AGTGTGC	C119437076G	TMEM37	NM_183240.3(TMEM37):c.208_209insGTGTGC:p.Thr70delinsSerValPro	coding	Benign
2	120927402	A	AT	G120927405T	GLI2	NM_001374353.1(GLI2):c.192dup:p.Asp65Ter	coding	Pathogenic
2	120951308	CG	C	G120951310C	GLI2	NM_001374353.1(GLI2):c.322del:p.Ala108fs	coding	Pathogenic
2	120955348	CG	C	G120955349C	GLI2	NM_001374353.1(GLI2):c.562del:p.Ala188fs	coding	Pathogenic
2	120968856	CTCCCGAAGCAGCTCGGCGGCCAGCGGTTCCTACGGGCA	C	C120968859T	GLI2	NM_001374353.1(GLI2):c.789_826del:p.Arg264fs	coding	Pathogenic
2	120970407	TCC	T	C120970411A	GLI2	NM_001374353.1(GLI2):c.864_865del:p.His289fs	coding	Pathogenic
2	120970437	AG	A	G120970438C	GLI2	NM_001374353.1(GLI2):c.891del:p.Gln297fs	coding	Pathogenic
2	120982843	A	AC	G120982846C	GLI2	NM_001374353.1(GLI2):c.1597dup:p.Arg533fs	coding	Pathogenic
2	120986400	CCTGA	C	T120986402G	GLI2	NM_001374353.1(GLI2):c.2030_2033del:p.Leu677fs	coding	Pathogenic
2	120988227	CA	C	A120988228G	GLI2	NM_001374353.1(GLI2):c.2263del:p.Ser755fs	coding	Pathogenic
2	120988272	GCGGCTGT	G	C120988276A	GLI2	NM_001374353.1(GLI2):c.2311_2317del:p.Leu771fs	coding	Pathogenic
2	120988707	CCCACGCCCACTGGGGCCGCGGCGTGGCAGCGACGGGCCGACCTATGG	C	C120988713G	GLI2	NM_001374353.1(GLI2):c.2748_2794del:p.Leu918fs	coding	Pathogenic
2	120989172	T	TC	A120989176C	GLI2	NM_001374353.1(GLI2):c.3210dup:p.Thr1071fs	coding	Pathogenic
2	120989531	AG	A	G120989532C	GLI2	NM_005270.5(GLI2):c.3618del:p.Gln1206fs	coding	Pathogenic
2	120990246	GC	AT	G120990246A	GLI2	NM_001374353.1(GLI2):c.4281_4282delinsAT:p.Met1427_Leu1428delinsIlePhe	coding	Benign
2	127054136	G	GCA	G127054139C	BIN1	NM_139343.3(BIN1):c.1132-126_1132-125dup	noncoding	Benign
2	127070022	C	CGT	C127070027G	BIN1	NM_139343.3(BIN1):c.380_381AC[3]:p.Tyr129fs	coding	Pathogenic
2	127280552	A	AT	C127280554T	ERCC3	NM_000122.1(ERCC3):c.1421dup:p.Asp474fs	coding	Pathogenic
2	127289348	CAA	C	A127289351G	ERCC3	NM_000122.1(ERCC3):c.809_810del:p.Ser269_Phe270insTer	coding	Pathogenic
2	127423090	G	GGGCAC	T127423102G	PROC	NM_000312.4(PROC):c.321_325GCACG[3]:p.Cys111fs	coding	Pathogenic
2	127426101	G	GTT	A127426102T	PROC	NM_000312.3(PROC):c.552_553insTT:p.Arg185fs	coding	Pathogenic
2	127428766	T	TG	C127428773G	PROC	NM_000312.3(PROC):c.1212dup:p.Pro405fs	coding	Pathogenic
2	130155186	TGCGGAGC	T	G130155190C	SMPD4	NM_017951.4(SMPD4):c.1473_1479del:p.Leu492fs	coding	Pathogenic
2	132645507	T	TAAG	T132645511A	GPR39	NM_001508.3(GPR39):c.1264_1266dup:p.Lys422dup	coding	Benign
2	135052314	GC	G	C135052316G	RAB3GAP1	NM_012233.3(RAB3GAP1):c.9del:p.Asp4fs	coding	Pathogenic
2	135091111	AAAGGAT	TTATTA	A135091111T	RAB3GAP1	NM_012233.3(RAB3GAP1):c.264_270delinsTTATTA:p.Lys89fs	coding	Pathogenic
2	135113216	C	CT	A135113218T	RAB3GAP1	NM_012233.3(RAB3GAP1):c.429dup:p.Lys144Ter	coding	Pathogenic
2	135113262	CACTG	C	A135113263G	RAB3GAP1	NM_012233.3(RAB3GAP1):c.475_478del:p.Thr159fs	coding	Pathogenic
2	135115344	AC	A	C135115345T	RAB3GAP1	NM_012233.3(RAB3GAP1):c.612del:p.Leu205fs	coding	Pathogenic
2	135115363	T	TC	A135115364C	RAB3GAP1	NM_012233.3(RAB3GAP1):c.630_631insC:p.Ile211fs	coding	Pathogenic
2	135130003	GTCACTG	TTA	G135130003T	RAB3GAP1	NM_012233.3(RAB3GAP1):c.982_988delinsTTA:p.Val328fs	coding	Pathogenic
2	135133918	TTG	T	G135133922C	RAB3GAP1	NM_012233.3(RAB3GAP1):c.1386_1387GT[1]:p.Cys463fs	coding	Pathogenic
2	135150477	T	TGTCTGCTCTCAGATATGGA	T135150501G	RAB3GAP1	NM_012233.3(RAB3GAP1):c.2037_2055dup:p.Phe686fs	coding	Pathogenic
2	135162605	GTTACC	G	A135162608G	RAB3GAP1	NM_012233.3(RAB3GAP1):c.2343_2347del:p.Pro782fs	coding	Pathogenic
2	135168631	AC	A	C135168636T	RAB3GAP1	NM_012233.3(RAB3GAP1):c.2801del:p.Pro934fs	coding	Pathogenic
2	135168700	G	GTTCT	C135168701T	RAB3GAP1	NM_012233.3(RAB3GAP1):c.2865_2866insTTCT:p.Pro956fs	coding	Pathogenic
2	135169036	T	TG	A135169043G	RAB3GAP1	NM_012233.3(RAB3GAP1):c.*261dup	noncoding	Benign
2	135169974	TA	T	A135169989T	RAB3GAP1	NM_012233.3(RAB3GAP1):c.*1208del	noncoding	Benign
2	135932844	TA	T	A135932859G	DARS1	NM_001349.4(DARS1):c.505-3del	noncoding	Benign
2	136114974	GGTGA	G	A136114978C	CXCR4	NM_003467.3(CXCR4):c.950_953del:p.Leu317fs	coding	Pathogenic
2	140501878	G	GA	T140501887A	LRP1B	NM_018557.3(LRP1B):c.8663-12dup	noncoding	Benign
2	140536716	GA	G	A140536729G	LRP1B	NM_018557.3(LRP1B):c.7514-8del	noncoding	Benign
2	140868265	T	TA	G140868285A	LRP1B	NM_018557.3(LRP1B):c.4170-21dup	noncoding	Benign
2	142877007	GACCCAAGCTCAGGAATAAGCCTAAAGAGGTAGTCAGACTAGAACAAAAGACAATTCACAGACTTAAATGAATAATTTGCATTAATGAAGTTTGCCAGGCTAGTTTCCACTTGAATCTTCAGATCTTTCTTCCTTCATTGTCTTGTTAACTGTCCAGATTTATTACCTAGGAGTTTTTGAAAACTCACATATTAGGCAATAGAGTGTATTCTGGAATTGAGAGCCTATTTTAAACTTTTGACTAAAAAGTTTACCCATTAAATGTCATAGATTCAACCATCAGACTGAAAATCCTCAGTGTATTTGAAGGAGGGTATTGTCTCAAAAATCCAGAGCTCAAAGTGAAGAAGAAAGGCAAAATTTGGAATTTAGCTCTAAGACCAACTCATCAGTTCAGGGGTCAGAGATTTATATAGTTAAAGGACAAGTGTGTGTTTACCTGAGTTTAAAGAGCAAAGTTGCCTCTGGAAAGAAGCCCTCACTGGAGGCTCTGGCATTTGAAATGGTGGGCAGGAGCACATGTTGCTTAAATTTCTGACAGTGGCTGGAGATTACCGATTGGTTAGGGGAGAGGAAGTAAAGTAAAATATTTATAAATTCTCCACTGGGTGGAGTCTGAGCAGTTCTTTGAATTTCTCACCCTAAGATCTGGCCTGTACATTTTCAAGGAATTCTTGAGAGGTTCTTGGAGAGATTCTGGGAGCCAAACACTCCATTGGGATCCTAGCTGGTAAGCTTGAGGCGCTGATAAAAACTCTCTACCCTAATGTTTACTCCATGTTTTTTCCAAATGAAACTTCTGTCAGCTAGAATCCTTGTCATAGTGTTTTAGAGGTTTTTTTCTGCTACTCTCTTCTTTTTTTATATATATTCTTTTTGTAAATAAAAATGGTATGACCTTCCTAAAGGCCCCACCTTTAGAAATGGGTTAAATGAAAAGATCTTTACTAATGTAATAGAAAAGAACTGATGAACATAGTGCACTGAATATGGTTACATTTGACAAACCAAAGTTAGTCCTGTTCTTATTTGAGTTTAAGCGGTAAGATTAGGTCAAACTCCAGACGAGGGAAAGATATTCTTAAACAGATTTTAAGTCCTCTGTTTTCTGGTAACTTTAATTGTCTTATGCTGCTAGTAGTCATATTAAATATTTATTTAGAGAAGTGAAAATGCCTACTCTTGAACAGAGTTTCTTCCCCTTTCATTTTATGAAACCTAAGAAAAGAAAGTTGATACACTTTTTAAAAATATACTAGATTTTCTTTTTTCCTTTCTGCTTTTATTTTGAGGCCAGTGGGGTGTTATTTAGTAGTAACACTGAAGCAAATGTATTGATTTTCTTAACGTGTTCAGCAAGTAATTCATATCCTAGATATGAAATATACACTCGTAGCAGAGTAATGTTACCCATTTCTCAATGATATGCTTAAAGAATCTTGCTCAATATGCATATTGTTTTTCCTTTTTTCTTTACTAATGAAAAACTACACGCTTTCTCAACATATTTTTAAGTCAGGTTCTAAACTTTGAACTCCTATGTACAATTTGCTTATTTCAGGCATGAATGTGAAACTGTGTAAAGATTAACTACCAGACACTCAGTCATTTATTTAACTATTTAGCCCTAAATCAGTGGGTGACTAGGAGATTCTGAATTCTGTGATTTCGTTAAAATCAATCAGTTTTTAATTATTATACAAGCTTTTTACTTTAAAGTTGTAGCTGTCTAAATAAAATTGTGAAAGCACAATTTCCAAACCTAAATCGAAGGCACATTGATGCTGTCCATCAGAAGGTATTGATAATTTAAAAAAATATTACAAACTATCTTTTATCTTTTTATAAAGGACCTAATGTCATTTGAGCTTAACCATAATCCTTTGAAGAAAGTAAAATTTAACTTTAAATAACATTGACATACAGAGCAGTTAGGTGATTTGTCTGAGACCATATGGTATGTATGTCCCCCGTCTTGATAAAATTAACACTAAATATGTAACATTTGAAAATTTGTAAAATATGTAAAAGTTGAAGTTTTTAAAAGTTTGGATTTAAGTTCTTCCTTTCAGAATATGAGCATGTCACTTTATTTGCAAACTAAACATGGCATAACATTATGGCTTGTGAACACTAATTGTCTTAGCTGCTGGGGTGAATGCAGAATTAAGCAGCAATTAGTATGAGTGAATAAATTGCATCCTTAGAGTGAGTGCACTATGCTATTCTGGGAACTAAAGACTATATTTGAGACCATGCGAAGTTGTGCAAGTGGTGGAGTAGGGCAGGGTGCAGTCATTTGGAAGACTATGCCCATCAGGTATCTCAAGGTACCCCAGATGTGACAGGCCCAGGAGCGGAACCAGCCACTTTAACTTTTGCCTGGCTGAAACTGGACTGGGAAGGATGGATTAAAAAGGTAAATCAATTCATACGTAGCTTGTGGTCCTTTGCAGCTTAAGTGTAGGACTGAAAAAAGAAGCCAAAGAAAAAGGGAATGAGCTGAAGAAATACACACACGTACACACACACATCAGGAAGCAACAGGCAAGGAAAAATAAAGTGAGAGGTTCAAGGCTTCGAGGAGGAATTGAGCTCTGTGCATTCCATTCATGGGCTTTGCCAAAGACCAGCACAATGGACTCAGCATCTCAGGCATGGTTAAGTACCCTACTGTGCACTCTGCTATCCTTTTAGTCCACTGGTTTCTACTCTGTCTGTGCCAGGTTTTCATCTCAATATAGAGGAAAAGGATTCTGATGCCTCAGGATTATTACAAGCATTAAATAAGATACAGATAGAATGACGCTAATGAGTATCATTTTTAAAATAAGGAAAGTTGAATTTTATTCAGAATCTGTTGGTAACAAACTAATCTCTTTATTTAAGTAACCCCACTTAGAGTTTAAAGTCACCTCCAATCAACTCAAAGGGCTGACCTCCCAAAGAAAGTCTCAAATATAAGGCAAGCTCTCTTGATTCTGAATTTCATTAGAAATGTTTGTCTAAGTCTTTCTCATATGGTCAGAATGAGAGAGGGTGCCCTTCTAGTAATATGTCATTATGTCAAATAATTCATCAACCAATTTTGTTTATTCTCTCGAACTGCCACTTTGGCGGCAGGGGTACTCTGTCTAAATGAGATGTCTATAAAGATAAATTAAACATGATTCAGGCCCCCAGGTAGAGTTCAGTTCAGTAGGGTAGAACAGCAACTCAGTCCAGCTACCATCAGTAATATGTTTGTAGTAAGACTAATCTGATAGTAAGGCAGAAAAACATCTCATGGAATTTTAGGAATAGCCAAGAAGATGGGTCCCCTGGAGACTTGCACATAGCATGTTGCATGAAGGATTCAGTGACTTGCAAGATGGGCTTGTCTTGTCACCTTTTCAGGAGACATAGCTGTTCAATCCCTTGCCATTGTGTAACTAAGTGACTCTTACTTGCTGCTGGAATCACTTCATGCTTTTCATGCTTTAACAATCAGTGGTTCTGTTTTACTTTGAAAAATGAGTCATTCTATGACAGTATTCCTCCTAGACCCTAGCATTTCATAGCTTCTATCTATGATTATTTTAAATTCTAGCTCCTGTATCTAACTGAATGAATAAGCACATCCCACAGCTCAGATTCCTGAAAGAATTTGATTATGTACTCAGCTAAACATCATCACTGTTTGGTTAGAGCTTTTATAGCAAATAATTCACAGATCTTTGATGAAACTACATTGTCTTTAGTGGGTAAGTGTCCAACAGAGGTCTAATAAACTATGACCAGGCAATTGATAATGCCAAGCGGTAGAGACACAGTGATCTCTCTTCAAAATGCAGTTTCCTTCATCAGAAAGCTATGTGTGGGGAGCCATTTAGAATCAAGTTTCAGGCATAGCAAATGTTTTTGATCTTTCCTATCCATACATATGTCCAAATAAATATAGTACCTGGCAGAATGTATTATTATCGTAAGTAAAGTACATAAGTGTGCTCTTAATTGTTATTGGTGTTCAGAGGAAGACGGGCTACTTTTGCCTGAGACATCCTAACAGGCCTCTTGAAAAAAGCATTGGAGCATTAGGTCTTTGAAGGTTGGCTAGAATCCAAACAAGTTGAAGGGGAGCAAAACATTTTAGGCAAAGGAAATGGCATGAGAAAAATCACAGAAATAGAAAATTTCATGTGGAGGACAAATAATACTTATGGTCAGATATTGAAAGCACCATCCATCAATGTTGAAATCCTACACTTTTGTACAGAACCATGGATTGAAGCAGTTAGGAGTCACAACTGATATCAAAGTAAAAAACATGCAATGGTGAACCTTGGTATCTTTGTCTAGGAATATAAAGAATGGCTTATCAGTGGAGACCATCGACAGTTGAGAAAAGAAGAAGCCCAAAAAGTACAAGAATGAAAATCGAGAGTGTAAGAAGAATGTCTGTTTTACTGGCATTATCTAACACTCAGATATGCAACTCTTTATTGCCAAACACTGTGTGTGTTAGTTAAGGTAAAAGGTGAAGGGAGGCAGAAGAATGGAGATTGAATTGAATTCTAGAGCTTTAGTTCTGTGTGAGTTTGGGCCCCCAGAAGTTCTAGACATTAAGTACAGTCTGAATTGAGAAATATTAAACATATCTTGTGATCCAATATTCCCCTAAGTTATACACTCAAATATCCAATGACCAGCTTGACATTTCTACCTGCATGTTCAATACTTATTTGAAACTTAATATATCCTAAATATAATTTTTTTTTAAACAGTCATGCTCTGTTGCCCAGGATGGAGTGCAGTGGCACAATTAGCTCACTGCAACCTCAGACTGCTGGTCTCCTACCCCATCCTCCTCGGTAGCTAGGACCACAGGTGCATGCCAGTGCCAGCACACCTGGCTTTTCTTTTCTTTTTTCTTTTTTTTTTTTTTTTTTTGTAGAGATGACATCTTGCTACGTTGTCCAGACTGGTCTCAAACTCCTGGCTTCAAGCAATCCCCTGCCTCGGCCTCCCAGTGCTGGGGTAACAGGTGTGAACCACCACAACCAGCCTGCTAAACTGAATTCCAATTTCCCTCCTCAAAATTTTTCTTCCCCAGGTATTTTTATTTCATCATATTTCACATATTTGCCCATATCCCAAAGCTAGAAGAAAGCTCCTTTCCTGTCCTCACTAGAAATAATCTATCCACCAGTCCTATCTACTTTTTCTCCAAACTACATCATAAATCCACACTCTTCTCTCTACCTTTGCCCTCATCACCAAATTTAATTCACCACCGTTTCTCTCCTGAACTACTGTGTTATCCTTAATCGGTCTCCCTTTTCAACTTTTTTTTTTTAATTATACTTTAAGTTCTAGGGTACATGTGCACAACGTGTAGGTTTGTTATATATGTATATATGTGCCATGTCAGTTTGCTGCACCCATTAACTCGTCATTTACATTACATATTTCTCCTACTGCTATTCCTCCCCCATCCCCCCACTCCACGACAGGCTCCGGTGTGTGATGTTCCCCGCCCTGTGTCCAAGTGTTCTCATTGTTCAGTTCCCACCTGTGAGTGAGAACATGTGGTGTTTGGTTTTCTGTCCTTGCGATAGTTTGCTCAGAATGATGGTTTCCAGCTTCATCCATGTTGCTGCAAAGGACATGAACTCATCCTTTTTTATGGCTGCATAGTATTCCATGGTGTATATGTGTCACATTTTCTTAATCCAGTCTATCATTGATGGACATTTGGGTTGGTTCCAAGTGTTTGCTATTGTGAATAGTGCTGCAATAAACATACATGTGCATGTGTCTTTATAGCAGCATGATTTATAATCCTTTGGGTATATATGCAGTAATGGGATTGCTGGGTCAAATGGTATTTCTGCTTCTAGATCCTTGAGGAATCACCACACTGTCTTCCACAATGGTTGAACTAGTTTACAGTCCCACCAACAGTGTAAAAGTGTTCCTGTTTCTCCACATCCTCTCCAGCACCTGTTGTTTCCTGACTTTTTAATGATCGCCATTCTAACCGACATGAGGTGGTATCTCACTGTTTTTAAAACTCATTACAGAGCTAAGTGGTTTTTATTTAATGTAAATTTATATCACATTACTTTTCTACTCAAAACTCCCCAATGGTATCCCATTAAACTTATAAAATTTCAGTTTTCTTTCTGGCTCCCAAATTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGATGGAGTCTCGCTGTCGCCCAGGCTGGAGTGCAGTGGTGCAACCTCGGCTCACTGCAGGCTCCACCCCCCGGGGTTCACGCCATTCTCCTGCCTCAGCTTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCTCGCACGGCTAATTTTTTTTTTGTATTTTTAGTAGAGACGGGGCTTCACCGTGTTAGCCAGGACGGTCTTGATCTCCTGACCTCGTGATCCGCCTGCCTCTGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGCGCCTGGCCCCAAATTTCTTTATGACTACCTTCTGCCTTTGTTTTTTGCATATCACAGTTTGTCATTCCTCCTTCCCTCTTTTTCCCTCCCTAGTGCATTTAGTTGAACAAGCCAAGCCCATTTCCACCCCAGGAACTTTGCACTTGTTGCCAGGTTCCTCCAGGTCCAGGTCTTCACATGATGTAGACATTCTCATCTATCACTTTCTCAGAAGGATGAACATGACCCTTTAAGGTAGCTCTTCCACACTCCAGTGACTCTGTCCCATTACTCTGCTGTTTCCTCATAGCTCTTAAGTCTGAAACTACATTGTTTTTCTATTCTTCATTTACAAATAAATTGTACAAGGGTTGGCACTTATGCACTCTCTCATACACTGCTGTCCTGCCATTACTGGGAGTCACATAATAGGTACCAAATAAATACTTGTTGAAAGAGTAAATAAATGTATAAATTAAATGAAATCAGCAAAACTATATGTAAATCTAACTAGCCCAAAGAAATTTTATTTCCTGTAATATCATTTTGTTCAAAAAACCAAACTTAGGAGAGGAGAAATATAAACAAACAAGCTTGGGTGAAGTTTAAAACGTATGTGATTAAATCTCCATTGTCATTTATCCTTTTCCAAAAAGTGGGAAATGTTGCATGATGATTAAACAGAATACAATGTGGTTTCAAGAAACATCACACAATCCTGTTTGTTCTAAGATAATAAATATGGTGTTGAAAGGAAGAAATTTATAATTACTAACAGCAGCAGGTGGATGAATCTCTTTGGTATTCATATGAACAAAATACTAACATTTTAAGTAAAGTTACCTTTTCCATGAATATGGTTTTCACTCACAAAAAAGGATTTTGTTCAGGTTCAATATGTCCATAGTTTTAAAACCATGATCCAAGAACCACTGGGGGTGGGACAGTGGAGTTGGGATATGGAGAAAGACAAGCTAAGTGGGATGCTGCTTTTCGACACTTTGACAAAGATCATCCTTACCATTATCTCCTCATAAGATACCTAGAGGAAAAGGTGATGACATTATATATATTTGGAAGCCACAAGTGTGGTACATATTTCTAGATAATAAGAATGGAATGAGCTAACATTTATTGGGAACTTACTCTGTCCTGAGCACTATTATCTAATTTAGTCCTTTCAATATCTCTAAGTTACTATTATTTTGTTTCTCTTTTCCTTTTTTTTTTTTTTTTTTTTTTTTGGTTTGTGTTTTGAGACAGGGTCTTGCTCTGTTACCCAGGCTGGAGTGCGGTGGTACAATCCCAGCTCACTGCAACCTCCACCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCTAGTAGCTGGGATTACAGGCGCCTGCCACCATGCCACCTTTTCCCAACCTCAGGAATAATATACTTAACCAACCAGCATTAAACTCCATGCATGAGTTTTTCTCATATATGAAAAGAAGAAAATAGGCCAAGCGTGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGCGGATCACTTGAGCCATTTTTTGTATTTTTTTAGTAGAGATGAGGTTTCACCATGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAAGTGATCCGCCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCATGCCTGGCCTATTTTCTTCTTTTCATATATGAGAAAAACTCATGCATGGAGTTTAATGCTGGTTGGTTAAGTATATTATTCCTGAGGTTGGGAAAAGGGAGTCTTAGTGAAAACAAAAGGTGTATTACCTAAAGGGCTCATTTTCTACAGGAAAATTATGGTGGCTAGATTATGTTTTATTATTCTCTTTCAGTTTTAGAGAACAACTTGTAATGGAGCCTTCATCTCTTGAGCTGCCGGCTGACACAGTGCAGCGCATTGCGGCTGAACTCAAATGCCACCCAACGGATGAGAGGGTGGCTCTCCACCTAGATGAGGAAGATAAGCTGAGGCACTTCAGGGAGTGCTTTTATATTCCCAAAATACAGGATCTGCCTCCAGGTAAGAATGCTGGGAAGGTTTTTAAATTTTATTTATTTATTTATTTTTGCTACTGCATGTGTTTATTATAATCTTTGAAAATCATTGTTGTATTACATAATAGAGCTGTTGCAATTATGTTTGAAAAGCAGAAGATCCCTGGTGCTCTCAATCAACCTGTCAGCCTACCTTAGCCTCAAATTATCTGTTTTCTCCCCTCCTCTGAATGAAATACATGCAGGGTACTTATACTGTCAACTACTTCTCTGAACAATTGAGTGACTGATTGAAAATTACAGGCAGATACATTTACTTGTTCTCTAAGCACTTGGGATTCAAAGCAATTATTTTAGAATGCAGTGTTAGAATAGCTCTTATATTCTGGCACTTAGTTTATAATAATATGATGTTTGTCTTAGAGAAAATATTGTTTTGTGACCTGGATATATTAGAAGAGATGTTATATGAATAGCCATCTTTGCATGCTGTAAAGATGGCGAGTGTAAGAGTTACCAAGAAAAGAAACAACAAATGCCCAACAAATACATACTACATTTTAAAATAATGTAGTAATCTGACTCTGTTCTGGGTTTGAGGAAGTCATTTAAAAAAATAAAACATAAGTAGCAAAGGTATAACAATAAAAAATGATTCATCATATTTAGCTTTACTCCATTTTACATTAATAAAAAAGGTTCCCAGGTTGAATGGAATTAGTCTACCAAACTGGGTTTCGCATCCTTTATAATAGTCTGATTCCATTTTTATTCAGATTAAATAAGGTACAATTTTGGGTCCAGTACTCAGGAGCCATGAAGGTCAGCTAATACAATTTTAGGATGTCTGGTTTGTATAACACTAATATATACTATGTAATAAATGTTAAAAACACCTATTTGTCTTCAGCTATGTACCCAACAACCTATAGAATTCTGGAAGAATGAAAGAAGAGAAATACCTGTATCTGACTTAAAATTGTGTAGTATAAGTTGAGGGAGATATTGATGGAAATGACAGCTAGAAGAGACGAAATAAAATGAGGCTATAAGTGATCTGAGACCATAGAAGAAAAATCTTCTAGGTCATTCTAGAATCGAAAATTAAAAGGACATTTTTATTTGAATTGTAAGGGATAAAATACTGCTATGGGAGTGAATTGTGAGGAAATAAAATTTAGGAAAGGAATTCTTAACGGAAATGGGAGATAAGGGGCTTGGTGATATGTGCATCACACAATGTGGAAACCTTTAGAAACAGCGAGGACCCACATGAGACAAGTCAGGTCTGGTTGATGGTGGCCCTGCCCTGATGTGCTCTCTGGCCTACAGGGCTCCTGTACTGAGTCAGAACCCAGTTTAAAAATAGCATTGTACAGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGGTCACGAGGTCAGGAGATTGAGACCATCCTGGTTAACACGGTGAAACCCCATCTCTACTAAAACTACAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTGCTCGGGAGGCTGAGGCAGGAGAATGGCTTGAACCCGGGAGGCAGAGCTTGCAGAGAGCGGAGACTGCACCACTGCACTCCAGCTTGGGCGACAGTCCGAGGCTCCATCTCAACAACAACAACAACAACAACAACAAAATAGCATTGTACCTCACTAATCACCAGGAAAATGCACATCAAAACCACAGTGAGATATCACCTCACACCCTTTTCTATGACTACTATTAAAAAGTGCAGGATATAAATATTGGCTAGGATATAGAGTGATTACAGCCCTTGTGCACTCTTAGTGGGAATGTAAAATGGTGCAGCCACTGTAGGAAAGAGTATGGCAGTTTCCTCAAAAACCAAAGAATAGAATTACCACATGATCCAGCAATCTCACTTCAGGATATATTGCCAAAAGAATTAAAAGCAAGATCCCCAAAAGATATTAGTACACTCATGTTCATCATAGCATTATTCATAATAGCCAAAAGGTGGAATTAACCCATCATCAATAGATATGATGGAACCTTATTAAGTTTTAAAAAGAACCATGCTCTACATGGTTCACATGAATGAACTATGAGAACATCATGCCAAGTGAAATAATCCAGACGCAAAAAGAAAAATACTGTGTAATTCCAATTATACCAAGTATCTAGATTGGTCAAATTCATAAAAACCAAGTAGAATGGTAGTTGTCAGGAACTTGGAGAGGGAGAAATGAGGAGTTATTGTTTAATGGGTATAAAATTTCAATTTTGCAAGGTAGAAAAATTCTGGAGATTGGTTGCACAATAATGTGAATGTACTTAACTGAATTGTACACTTAAAATTGTTAACAGAATAAATTTTAGGTGCATTTTAGCACAGCATTTTAAATATTTATCAAAAATAAAAACGTTTTCCCCTTAGAGAAAAGCAGCATTGTACATATAATCACTTCTGTTATACTTAAAAGTTGACTTAGTATCCTAATTATAGGTATAATATTGATTTTGATTAGTTATCCAATAGAAAGTAACTGAAGGATTACAACCTTGGATAAGTCATTGCTGATTCTTAAAGATAAGAGATAGAAATTGGTTTAATAAAGAATTTAAATAGTTTGCTTGTTTAAAAAATATAGTTTTGCTGGACACGGTGGCTCACATCTGTAATCCCAGCACTTAGGGAGGCGGAGGCTGGAGGATCACTTGAGTCTAGAAGTTTGATACCAGCCTGGGCAACATGACAAAACCCCATCTGTACAAATAATACAAAAATTAATTAGGCGTGATGGCATGTGCTTTTACTGCCAGTTACTCTGGAGGCTGAAGTGGGAGGATCACCTAAGCCCAGTAGTTCAAGGCTGCAGTGAGCCATGATCACACCACTGAACTCCAGCCTGGGTGACAGAGCAAGACCCTGTCTCTAAATAACAATAATTATTCTAATAATTTTGAATGATGTAAAACTTTATTAACCCCAAGTGTTCTTCTACATCAGTGATTGTCAAAATGTGATCCCTTGACCAAAAGCATGAGGTTCACTAGAGATCTTATTAAAAATACAAGTTCTTGTGTCCTAACTCAGAATTACTGAATCAGATTGTTAAGGTGAGGCCCAGCCTTCTATTCTAGATCCTCTAGGATAAGATGGTATCCTAGAGTTGGGTCAATTAATTCCCCTTCTTACTATTCTCACGCCAGTTGCATCTTAATGTCTAAGGATTCATGTATTCGGCAAATATTTAATAGTCAGTTACCCTACTCGAGACACTTCTGTCAGAACGGTTCAGAGAACCAAAGAGCAAAGCTGTCGCATACTTGAACGTGTATCTAGTATGACAACAGATAATAACCAAACTTAGAAACAATTATGCTCTACCATCATGTAGCACTCTAAATGATAATGAGGGCTGTGAAGATAAGGGTGTGACCTTACCCACAGAAATATGGTGAGGTGCCATCTGAACAAAGATGACAGCACAGTGAGGAAGTGAGCCTCATGGAGCACAGGTGAAGCTGAGCCTGGTCGTGGTCCACGTTTATGCTGAACAGAGGTACCAACTCAGGAGCACATGATGTAGGAGCAAAAAGATAACACATTTTTCATAACCATCACAAGGGGCATGGCTGATGTTTCTATAACAAAGACAGGTTAGCAAGAGAAAAACCCAGGGAAAACTTGAGATTTTATGCTAAGTTGAATGAAAGAAATGAATAGATGTGACTAAATAGAATTGGAATGAAATATGATCTAACCGTAATCAACAGACAGTGGCGGGGGGACTCAGCAAGTCCTGTATTTTTGGATTCTTCTTGCTCCCTCGGTGTAGCATTTCTTCCCTCTGCATATAGGGCAGGACACCTGTCATATGAAAGTCTATCCGGGAGAAGGGAAAAGGTCAGTGCGTGAGCTTTCTAGGTTTTAAGGCTTGCTGTAGGAGAGGATTTCAGTTTCTTTGACTCACCTGGCTGCAGGACACAGGGCAGGGGATTGGAGAAGATCAGAAAGACCTTGTTTCTGAGGCCCTCTCAAATCTCCTTCAGTTCCAAGTACTCAGCATTCCAAGGCACTGTATTTTAGAATACTATGTTCTGACCCCCAACGGTGTTGAAATTTCCTTCTTTTTTGTTTTGACAAGATGTGAATTCATCAGGAAACCAGTGTTCCCTATCTTATTAAAGCCTTCCAAGAGCATCTAAAAATGGTAAAGCATGTTGGATTATTTTTGGAGACTAGCATAACACCAAGAAAATAAACTTTCTTTAGCAGTTCTGAACAATGAAAAACAGAACAGAAATAAACAAGTTTTGAACAAATGAAAGGATCACAACTCCCAATATGAGATTTTTTTTTTTAATCTTGAAGAAAGTCTACAGGCATAGCCTGTACTTTTTTGATGTTTTTCTATTATATATTATGTTTTCTCTGGGTTTCTAATATAAATTTTATTAAAATAAGTACTTTCATTTTCTATTCTTAGATGGTGCCTGAGATGTTATCAGAGAAAGGGGTCAAAAATATTTTTAATCAGCTTTTGTACTTATGTTCAACATTGTCCTAAAGAGCACAGCTGAAAAATAAACAAGCAAAAGAAAGGAGGAAGAGAGAGAGAGAAGGAAAGAAAAGAAAGAAGGGAGGAAAAAAGGAAGATATAAGAAAGAAATAAAAAGAAAAGCAAGAGAAATGCAAGGCATACATGTGGAAAGATATCTTTCTAAAATTTTTAAAATAATAAATATTCCTGTTTGAAACATCCTCATACCTAAATTTCTGAAAGCATACTGGATAGCCCCATAAGATATATGGCTTTTGCACAGACACAGGACAAAGACAATCTTTTTCAGAGTGTCAAACTGCCATCCCAGAAACAAGTTGTGCAAATTTACATTTCCTCCAACAGTAAAGACAATTGCCTCACTAACTTTGGGGATCAGTAGGATTGTTTTTGTTTCTGTTTTTTGGAGACAGGGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGCGTGATCTCAGCTCACTGCATCCTTGACCTCCCAAGCTGAAGTAATCCTCCTACCTTAGCTCCTGGGGTAGCTGGAACTACAGGTGCGTGCCACCATGCCCAGCTAATTTTTGTATTTTTTGTCAAGGCAGAGTTCTGCCATGTTGCTCAGGCTGGTCTCAAACTCCTGGACTCAAGTAGTCCTCCCGCCTCAGCCTACCAATGTGCTGGGATTACAGGTGTAAGCCACCATGCCAGGCAGGATTAGCAGTTTTAAGAATCTTTGCTCATTAGATAATAAAATAATTATTCCATTCTTCTTTGAATTTGCAGTTCTTAGACAACCGTTGGAGATAGTTTTCATAAACTCCTTGGTCATTGCTTTCCTTTTTGTCTTAAGTTGCTCATAATGTATACATTTAATTTTAAACTAAAATAAATATAAGTGGTAATGTTTCATTTTTTTTCTCTTAAGGATATAAACTCCTTCTCTCATATATCTTAGGAATTTTAAGTGAAAATGTCCAGTTAATATAGCTGGCTAATAGCAGAACCAGAAATGGGTTCCAAATATTGTGACTGCTAGCCCATGTGTCTTGACTCAATCCTGCTTTTACTTTTTTAAAATCACTCAATTGAAGTATAATTTATGGACCATAAAATTCATCCATTTTAAGTATACAATTTAATAATTTTTAGTAATTGCATATGATTACAGTACCATTATAATCCAATTTTAGAACATTTCTTCATTCCATTTTTTTATCTCTAGCCTAGGCAAACAGTAATCTACTGAACTTGCTGTTATTTTGATCTATATAGAAGATTATTAACTCAAAGAATTTTTTTACTATTAAACTATATTTGGAGAAAAAAAAACGGTGCTGCTTTCAATATTCTTTTCATAGTCAAATAACCCTCTCCTTCAATCTTACCACACATCCAGGAGAGAGATCAGTAAATTGACACCCAACTTTAGTAGACTTTAGTAAGTACTTATAAAATTTAAAGTTATCCAAACAAGATCTTTTATAATTTTGCACATGTAATTGTTTGGACTCAGATAAAATTGGCATAGCAAAATAATCATGCTTCAGTTTGTCTCCAGGGCTTCCATATAACATAATAGAGAGCCTCTTAAACTCAACTGCTTTTAGGCTTAGAAGGCTGTGACAGATATGAGTTATCAGTGCATGAAATACAGGAAAGCATACTTTTCTCTATAAACTAGAATCTTTTATTCAACAACAGATAAAGATATGTTAAATAAAAGATTTTATCCAGCTATAAAAGGACATGTATTTATAACTGTAATTTTGATAGTCTGATAAATCTCTAACTTTCATAAGAAAACAATTAAGAGTATTCCTTAGTTAAAAGTTTAATTTTGTAGACATTGAGACTTTTTTTTTTTTAGATGGGGTCTCACTCTGTCACCCAGGCTGGAGTGTAGTGGTGCAATTTTGACTCAGAGCAACCTCCACCCCCTGAACTCAAAGAATCCTCCCTCCTCAGCCCCCCAATTAGGTGGGACTACAGATGCATACCACTACACCCAGATAACTGTTTGTATTTTTGGTGGAGACAGGGTTTCACCATGTTGCCCATGCTTGTCTCAGACTCCTGAGCTCAAGTGATCTGCCCATCTCAGACTCCAAAGTGTTGGGATTACAGGCGTCAGCCGCCATGCCTGGCCAATATTGGGAGCCTTTCATGTTACTTAAATTCTGCATTTAGTGGACATATTTGTAACCTTGTTATTTCATTTGCATTGGACTGTCTGCTCCCTGAGTGTAGGAACTGTCTTCTTTCTCTGTGAATGTGTGGGAGTCACCTAGGCAGACCTTAGTGTGGAGTGACGTCCAATCATGAAGAGGGAACAGCATTTGCAAACACACAAGAGAAAGCATAGTTACTTTGATCCCTAAGAATAGTTTTACATGATCAAAGAATGTCATGTAAAAAGCTGGGTATTGGTAAATGGTAAATAATAAGGTACGGAATAGGGAATATAGGGTACTAGGATGATTGGTATAATAGGGTGAAGAGTAAATGAGTGCGTGTGGGTACCTAACAGTAAGTCTGAAGAAGTAAATGTAATAGAAGTGGAGGTAAAGGAAAATATTCAGTAAATACATGAAATACTCATTAAATAAACCTGATTTAGTAGTAGGAGAGGCATACCATGAGCCATAATTTCTGTTTTAGGTGAATAGTGGTGATATTCACTGATACAATTAACTTGTTTTGGAAACTATTCATTGAAAGAGGAACTAGTTTTTTATTTGTTTGTTTATCTCTTGTTGCCCTGTCACCTGTGGCCTTGACCTCCGAGTCCAAGTGGCAGCTGTTACAAGCAGTGAGAATCAGGCAGTGACAAAGAAGAAAAGACAAATAATGTGTGTGCACTCTCCCTTGAGAAAGGTTTCAGTTTGCCTCATGAGTTTTAACGCATATATAGACCTAAGCCCCTGGGCCAGTGTTTGGTCATGGCCCTGCCTATCTGCAAAGAAGACTGAGTCTAAAACACAATTTTTGTTCTTGGTGGCCACATGCAAAGCTAACAATTCTATTTCTGTAAAGGAAAAATGAAATGCATGTAGGGTACAACTAGCAGTTGAGTTTAGTTAGAAGGTAGAAATTTGACAGTCATCAGCATTTAGGTAATAGTTGAAACTGTGGGTACGGATGATATTATCTTGGCATCATACCTAAGTGAGAAGAAGGTGGTAGAAACAAAATTCTAGGCATTGACAAAGAAAGAACTCTAGAAAGAGCCAGAGACACAGAAGAACAAGGAAAGTGTCGTGTTCTAAAACCAAGGGAAGAGACATATTCAAAGAAATCAGAGGGCTTGCCATCATCAGCTATCACAAAGACTGTATAAGCCTTTCATTTAGCAGTCAGGAGAGCTTTATTAAATTGTCTTAACTTTAACAGCTTCACTGGAATGACAGGCAGGGAAACTATGTACATTTCTAGATGTCATTGAAGGAGTAAAGTATCGGAAATGAGATTTTTAGGCTTCTTTTCCAAGAAACCTTGCTGTAAAAGGAAACATAACAAGGAACAAAAGGAAATGAATGAATGCTTTTTTCAAGCAAGGTGGGGGCTTGAATATGATTGTGCATTGAGAAGATGGTATGGGAAAAAAAAGAGACAGACAGACAGATAACAGAGGTGAATGTGATTTTCAGCCAAGCAGAGTGCATGCTGGATCTGTTGTCTATTCCCACCTTTTTCAGCTCATGGAGCCCAATATTCTAAGATAATGCAAATTGCTGAAGACAATCTTTCCCTACTCTCTAAGGATATATTGGCCCCAATGTCTAAGGTCAACATTAGCCAGATTGAGATTTTACAAAGAAATCTCAAGGTCCCAACCAACTTTTCCATATTTTTGGGCAATATGATACCAGGCATAACATACCTCAGCCACAGGACAAAGGACTGGGAATAGAAAGATTCTTACAAGGAGAGTACACTTTCACCTTTGCCTGGGACAATGTTTGGTCTTTTCTGTCTTGCCATATGAACTCTTTCCTCAAGGAATTTTATCCACAAAGGCGTGGAAAATCTCTTTTGAAATCCTCGAAATACGAAGTGTCTCTCCCTCAGATGCCATACCACTCATCAATCTAGACCTCAGAGAGAACTAATGGGTTCAAAATTAGGCAAGAGTATCTAAGGAGTGTGTGCAAGTAGACTGTAGTGATCCTACATTTTTCTCCATCTTCTTCCTGAAATTATAGGAATTATATTCAAAGTCCAAGAAGCTTGTTGGGAGCATAGCCTTGTATGGGGCATCCCTATTGGAAAAAGGACATGAATATTTCCTCAGTGCACCACCAGGAAATTTAATATTATGAGGTACATAGCAACACAAAAAAATCTTCACTCACTACCTTCTGAATAATAGTAAAAAGAATATACTTTTTTATTTAGTAAAATGCAGAAATCATACATCTCTACAAATTTTACAACATGAGCACCTCTGTGTAACAAGATCCTAGATCAAGAAACATAACATTGCCAGCACTTGGGAAAACTGCCTCGTACCCCCTTTCAGGAACTCCTTCTTTAGGGTTAACCAGTTTTTCTGTAGCCAGTATGCGAGTATCAACTTGTGGCATGTGAATGCCACAACTTAATATGTATTTAAGAAAATATGTTTAATAGAAAATAGGTTTAAAATGAAAATATGTATGTTTCCATATATAGAGAGAGATGGAAGAATATATATTTTCTTTTTTAAACTAATGCCATAGTTCAATTATTTAAGCCAGACAGCTAAAACTGCTTCTTTTTGTCCAAGTATATGGCTCACCCCTGTAACCCAGTACTCTTTGGAAGGCTGAGGCAGGAGGATGGCTTGAGTCCAGGAATTCAACACCAGCCTGGGCAACATAGTGACACCCTGTCACTACACACCTTTTTCTGTTCATACTTCTATTTAACAAGTGATGCTGGACCATGATGTTCCCAGCATTTTATTTTTTAATTTCATCCTAAGATCTGCTCTTATCCCCCATTAAGAAGGATTGGTAGAATGTTCTCTTTCCTAATGACAGAAGTATGAAATAACTTGTTCATCAGGAGAGTTTATTATTGATATTGTTAATATTTAAATACACATTCCATAAATTGGAATATTTTGTTGTACAGTCTGAGATTTAACACATGTATAGAATTATATTAACACACCTTCTCTCAGTATATAGAACAATTTCATAACCCCCAAAAGACTCCTTTATGCTAGCCCTTTGTAACCAATCTCTCCACTATACCTCTAATCCCTGATAACCACTAATCTATTTTATATCCCCATTGTCTTTTCCAGAATAACATATGAAGAAATTATATACTGTATTTAGTCTTTGGAGACTGGTTTCCTTTACTTAAGGAAATGCCTTTGAGATTAAGCAAAGTTATGTCAATGAAGTGTTTCATTTTATTGCTGAATAGTATTCTACCCCAAGAATGGACTACAGTAGTTTATTCATTTGTCCACTAAAGGCCATTTGAGCTGTGTCCAATTTTGGTGATTATGAATAGCTACTATTAACATTCATGTACAGGATTTTGTGTGAGTGTAAATTTTTTATCTAAATTTTTTTTTTAAGATCAGATAGTAAATATTTCACTCTTGACAGGTCTCATGTATTCTTTTTTTATTTTTATTTTTTTAGAAAAGGTCTTGCCCTGTCACCCAGGCTGGAGTGCAGTGGCATAATCACAGCTCACTGCAGCCTTGATCTCCCTGGCTCAAGCAATTCTTCCATCTTAGCCTCCTGAGTAGCCAGGGCTACAGGCGTGCACCACCACACCAGTCTCATTTTTTAACTTTTTGTAGAGATGAGGTTTCACTGTGTTGCCTAGTCTAATCTTGAACAAAGCTCAAGCAGTCCTTATTCCTTGGCCTTCCAAAGTGCTAGGATTACAGATGTGAGCTACTGCATCTTTCCAGGTCTCATATATTCTTTCTCTTCTTTTTTTCCTTTGTCTTCTCCTAGTTTTTCTTCTCCCATTTATAAATGTAAAAACATTCTTAGCTTTCAGGCCATACAAAAACAGGTCATGGGCTTGATTTGGAACTCAAACCACAGTTTGTCAAGTCGTTTTAGAATGCTATAAGTTGATTGCTGGATCATATTATAGGTATATTTTTAACTTTATAAGAAACTGGCAAACTTTTCCAGAGTGGCTGTACCATTTTGCATTTTGCATTGCCACCAGTAATGTGTGGGAATGTCTGTTGTTCCCCATATTCACCCCCAGTTGGTATTACCAGTTTTTTGTTGTTTTGTTTTTTAGTCACATATGTTTGTATAAGTATCTTATTTTGGTATTTATATGCATGTTCCTAATGGCTAATGAACTTAAGCATTAAACATTTCATAAGCTTATGTACCATCCATGCTCTAGAGAAATGTCTGCTCAAATATTTTGACTACTTTTTTTTAATTGGATTTTTTGTTTTTTAATTGTTGAGTTTTGTTTTTTGGGGATTTTGGAGCTTTTTGTTTTTTTGTTTTTTGTTTTTTTAAAGAGACAAAGTCTTGTTTCGTTAGCCAGGCTGGAGTGAAGTGGTACAATCATAGCTCACTGCATCCTTGACCTTCTTGGGCTCAAGCAAATCTCCTGCTAATTTTAACAGACAGGGTCTCGCTTTGTTGCCCAGACTGGTCTTGAACTCCTGACTTTAAGATATCCTCCCACTTTGACCTCCCAAGGTGCTAAGATAACAGGCGTGAGTCATGTTTTCAGTTTTAAGAGTTCTTTATGCATTTCAGCGTACAAGTTGTTTGTTGAATCAATGATATGAAAATATTTTCTCACAGTCTGTAGCTATCTTTTTATTCTCTTATTAGCGTCTATCACAGAACACAAGATTTTAACTTTGAGGATGCACAGTATATTTATTTTTTCTTTTATGGATTGTGCTTTAGTTACCATGTCTAAAACCTCCTCATCTAACCATCAGTCTTAAAGACTTCTTTCGCCCATAATTTATTTAGAAGTGTGTTGTTTAATTTCCAAGTATTTGAACATTTCCCAGTTTTCTTTTTATTACTGATTTGTAGTTTAATTGTATTGTGGTTAGAAAACATTTGTTAAGGTTTGTTTTTGACCCAGGACAATGGTCTGTCTTAATGACTCTCCATGTGCATTTAAAATAATATTTATTCTGCAGCTGTTTGCTGGAGTGTTCTTTAAAAGCCAGTTACATTCATTTGGTTCCTGGCGTTTTTCAGTTCTGGGGATTATTTGTCTGCTAATAAAATGTAGACCTAGTTCCTCAGAGGACCCTGGTCACAGATTTATGGACATAATCATAAATCCCACTTAAGCACTGTTCCAAATTGCTGAAACTCAATTCAATATTACCAGCAACTGTAACAACACAACAAATAAATCACATTAGTACCACAATTATTAAGATTGGGAAAGTTTTATAATTAGACAGTTGTCACCCAACAAATTCATATTAGATGCTTATATTTTTCTTGGTAATACCAGAGATCCAAATAATCAAAGCACAAATGAAACAAACACAGCTGAAATCTTTATGCTTTCTATTACTACTTATAATACAATCAGCAACAATTTCAGGTTCACCAATCTGCAGAAACATTGTATATCTTTAGGGATGTGCTTTTCTTCTTTTTCCTTAAATTTTTGGTTAAAAAAAAATAAGCAACACTTAAGTTTCTCAAATGAACAGTCATAATATGTTAACATTTTAACCTACGATATCTAAACAGGAGAGCATTCTAATAAAACCCCTAAACTCACCTGGCCTTTTAGTAGAATATTATCTTTACATACAGATATGGAGGAAAATATGTTAAATGTAAATTCTTTTTTCTTCTCTCTATCTTCATTTATTTATTTATTTATTTGAGACAGGATGTCCCTTTGTCATCTAGGCTGGAATGCAGTGGTGCTGTCAGAGCTCACTGCAGCCTCAACTTCCTGGACTCAATCGATCCTCCCACCACAGCATCCTGAGAAGCAGGGACCACAGACATGCACCACCATGTCTGGCTAATTTTTAAAAATTTTTCCCCAGGCTCAGTGTCCAGCTCCTGGGCTCAAGTGATCTGCCCACCTTGGCCTCCCAAGGGGCTGGAATTACAGGCATGAGCCACTGCACACAGCTGAATTCTTTTCAAAACCAGCAAATCATACATTTCTCATAGAAGTTAACTTCCACAGAGATGTTTTATTTTCTTTTTCTTTTTTTTTTTCATACTTCGAGGCCAAAAAATTGTCATCAAGATCCTAGCAATTGCTGCAGCCAATCCCAGGACTTTGCTTCCACAGTAGCTATTGAGCATCAAATGCTCTCTTAGATCATAGACCACAACTTTGATGAGCTTTCATTCTTAGCTATGTCTTAGGATTCTCCTGAAATATGAAGGGTAGGAAGTTGTATTCCCTAGTTCAAGGGAAAAAAAAAATCAATTTAAATTCAATGGTATTAAAAACAATGAATATTTACTTCAAAAAATTATTATAAAGCAAAATATGGTACAAACTAGTTTTTCCTTCTAAACTCAAATACCTAGCTAGTAATATTCCAAAAATAAACATTAATTATATGGAAAGAATTTTTAAATTTTTGCAATGCTGAAATTAATCAGTGGGAATACTGACGCTCTTACCTGTGGGTCTTTGTTCTTAGAGCTCCCAAGATGGGGCGGGCCGCTCCCAAGATGGCAGCAAGCCTTTTGTTCTCTGACCTTGGGTTCTTGGCCTCACAGATTCCAAGAATGGAATCTTGGGCCATGCGGTGAGTGTTATAGCTCTATTAGAAGCTGTGGGTCACGGAAGAAAACCATGGAACCCAGCGACTAGTGTTCAGCTTGATTAGGATGAACCCAGGCACTTAGCTGTGCAGGAACAATGGTGAGCCTTTAGCCCGATCGGGAGCAGAAATGGGCACCTTGCTGGATCAGGAGCACAGCAGACACTCTGCTAGATCCAGAGGGGTGGGAGTCAATGGTGGGTCTGAGATGGTGGCAAACAGCAGTGGTGGACCCGGGTGGGAGTCAATGGCAGGTCTGTAACAGCGGCAAACAGCGGTGGTGGACAGTGAGCAAAAGCTCAGCTCAAGCCGTAACAAACACGGACCAGAAGAGCGTGCAGTTGCAAGATTTAATAGAGTGAAAACAGAGCTCCCATACGATGGGAGGGGACCCAAAGGGGGTTGCCACTCCCTGCTTGAATGCCTGAGTTTATATCCCGATCATTGTCCCCTTGTTGTGCTCTCAGGCGATATATGATTTGACTGTTTCTTTACCTCCTGCTTTTAGCCTAATTTGTGTTTCAGTGAGCCCTCTTTACTACCCGATTGGTCAGGTGTGAGCTGAGTTACCAGCCCTGTGTTTAAAGGTGGGTGCAGTCACCTTCCCCAGCTAGGCTTAGGAATTCTTAGTCAGCCTAGAAAATCCAGCTAGTCCTGTCTCTCAGTCCCCCATCTCAACAGAAAAACCCAAGTGCTGTTGGGGAAGTTGGCCGAACAACGCTCTTAACTGCTTCCTGCTGAATTGGGGCATAGTAGGGGTCGTGCAATTGAGATTTCCTCAGGAGGAGTGCCTTTGATGTCATCAACATAGGAGCATGGGCTAGGAGGCTGTCCAGGGGCCCACAGTAGATCTTAGTCATGCATCTGGGGCTCCATTTGAAGAATGATTTGTAGTTTTATAGCTTTGATTCTGGAAGACACAAACTTAACAAGGAGGTTAAAGATACAGGGATTGAAATGTAGGCCTGAAGTGCAGGGGAATATTTCTTTGGCACACGTCACAGGCCCTGACTATCTGCTTGATAGTTTTGAAAAGGCCTGGTCCAGTAAATAATGATTCGGCCATCTGATGGGTGCTATCAATGCCTAAGTGAAAGTGTTACTGGGGGGTTCTAGCTCCCAGAGCTCCCAAGATGGTGGCAGGCCCCTTCCAAGATAGCGGCAAGCCTCTTGTTCTCTGACCTGGGGTTCTTGGCCTCAAAGGTTCCAAAGAATGGAATCTTGGGCCATGCAGTGAGTGTTATAGCTCTATTAGAAGCCATGGGTCACGGAAGAGAACCGTGGAACCCAGTGACTAGTGTTCAGCTCCATTAGGATGAACCTGGGCACTTAGCCGTGCAGGAACAATGGCAAGCCTTTAGCCTGATCAGGAGTGGCAGCGGGCGCCTCGCTGGATCAGGAGCACAGTGAACACACTGCTGGATCCAGAGAGGTGGAAGTCAGTGGTGGGTCTGCAACGGTGGCAAACAGCAGTGGTGGATAGCAAGCGAAAGCTCAGGTCAAGCCGTAACAAACACGGACCAAAAGAGTGTGCAGTTGCAAGATTTAATAGAGTGAAAACAGAGCTCCCATACAAAGGGAGGGGACCCAAAGAGGGTAGCCATTGCCAGCTCAAATGCCTGGGTTTATATCCTGATCATTATCCCTCCCCCTGTGCTCTCAGGCAATAGATGATTGGCTATTTCTTTACCTCCTGTTTTTGCCTAGTTAGCATTTTAGTGAACTCTCTTTACTACCTGATTGGTCAGATATGAGTTAAGTTGCAAGCCCCATGTTTAAAGATGGATGCGGTCACCTTCCCAGCTAGGCTTAGGAATTCTTAGTCGGCCTAGGAAATCCAGTCAGTCCTGTCTCTCAGTCTCCCTTCTCAACAGGAAAACCCAAGTGCTGTTGAGAGATTGGCCGATGATTGCTCTAACTGCTTCCTGCTGAATTGGGGTGTAGTATGGGCTGTTCAGTTGAGATTTCCTCTGGAGAGGTGCCTTTGATGTTATTAACTTGGAGCATGGGCTAGCAGGCTGGTCCGGGTCTGCAGTAGATTTTAGTCATGGACTGCATCTGGGGCTCCATTTGAAGAACAATTTGTAGTTTTATAGCTTTGATTCTGGAAGAGACAAACTTAACAAGGATGTTAAAGATACAGGGATTGCAGCAGGTGGAGCTTGCAGTGAGCCGAGATTGCACCACTGCAGTCTGGCCTTGGCGAAAGAGCGAGACTCCATCTCAAAAAAAAAAAAAAAAAAGATACAGGGATTGAAATGTATGGCCTGCAGTGCAGGGGGTTATTTTTTTGACACACTTCACAGGCCCTGACTATCTGCTTGTTAGTTTTGAAAAAGCGTGGTCCAGTAAATAATGATTTGGCCATCTGATGGGTGCTATTAATGCCTAAGTGAAAGGTTTGGTGAAGGGTTTTAAGTAATTTCTATTGTTTAGTTGCAGGCAAAAGTATTTTTCCTTTTTCGGTGGCTAGCCATTCTGAGGGGAGGAAACTACGTCCTTGTGAGGTTCCCCGTTCTATTTCTCCTGCTGAGTAGCAGCTTGGGTTCCCAGAGGGGATTACCCCATACTAGGGGTCCTTCTATAAGCATTTTTAATGGAGAGTTCTGCCTTGTGGCTCTTTTAGCTTTAATACCCGCTTGGCAGTTTCCTTCTATTTTTCTTTCCTTTTCTTTCTGATGACCCCGGCAGTGTAAGACTGCCACCTCTTTAGGTTTCTGTACAGCCAATAATAATCTCCTAATGGCTTCCTGATGTTTGATAGGTGTTCCCTCAGAAGTTAGGAATTCCCTTTTTTTCCATATTGCTGTGTGGGCGTAGAGGACTAGGTAAGAATACTTTGAGTCTGTATGTATATTTACCCTTTTCCCTTTTTTTAATTCTAGTGCCCGAGTGAGGGCTATTAGTTCTGCCAGCCGAGAGCTAGTTCCTGGAGTGAGGGGATTACTTTCAAGTATTCCATTATTACTGACCACTGCATACCTCGCTTTTGAAGTCCTTTTTTTACAAAGGAATTTTCATTAATATACAAGTTGAGTTAGGGATTAGTCAAGGGAACCTCTAGAAGGTCCCTCGAGTGGTATAGGTTTGAACAATTACCTGTTGACAGTTATGTTTTATCTTTTTCATTGTTTGGAAGAAATGTGGCGGGGTTAAGAGTTGCGCAAGTATGCAGTTGCAGCACTGGCCCTTTAATTAATAGAGCCTGATATTTAAGCAAACGATTGTCTGACAGCCACAAGTCTCCTTTAGCAGTGAGTATGCTGTTTACATCATGAGATGTCCACACAGTAAGATCTCTTCCCTGTATTATTTTAACTGCTTTACATACTAAGACTGCAACTGCCGCCACTACCCGTAAACAATGATGCCAACCCTTTGCCACTACATTAATTTTCTTACTTAGGTATGCCATGGTTTGCAAGCTGGTCCCTTGAACCTGTGTAAGGACTCCTGGAGCTATTTCTGTTTTTTGTGACATATGAAGAAAAGTCTTGCCCCGTTGGTAAGCTTAACACTGAGTCTTGGGTTAAGGCCTTTTTTTAGGGCCTGGAAAGCTGCTTTTGCTTTAGGAGTCCATTTTACTAAATGGGTATTGGCTTTCTGAGCTTCCTTAATTAGTGTATATAATGGCCTGGCTATTTTGCCGTACCTGGGAATCCATATTTGGCAGAAGCCTGTTATGCCAAGGAACCTTTTATTTGCTTTAGGGTTTTGGGATGAGGATAAGCCAGTATAGGCTGGATACATTTCTTACTGAGGGCCCTGGTGCCTTTGGATAATTTTAGCCCTAAGTATTTAACCTGCTGTAAGCAGAGCTGAGCCTTTGGTTTGGAAACCTTGTAGCCACAAGTGGTGAGGAAGTTTAAAAGCGCTTGGGTGGCTTGATGGCACAAGGTTTTTTCAACAGGCAGCTAGAAGTAGATTATCCATGTACCAAAGGACAAGACTGTTCAGGTATGAGAACTGTCTCAAGTCTTGAGCTAATGCCTGGCCAAATAGATGTGGGCTATCTCTTAACCCTTGGGGTAAAACAGTCCAGGTGAGTTGAGACATTGGGTTTGAAGCATCTTTAAAGGCAAATAAGAATTGAGAATCAGAATGTACAGGGATGCAGAAAAAGGCATCCTTAAGGTCCAGGACTGTAAACCACTCTGCTTCCTCTGGTATTTGGGAAAGCAGAGTAGAAGGGTAAGGTACAGCTGGGTATAGAGGAACAGCAGCCTCACTGATAATCCTGACATCTTGTACTAACCTCCACTGTCTATTGGGCTTCTTTACTCCTAAAATTGGAGGATTGCAGGGGCTATTGCATGGTTTTACTAGGAGTAGGGCTTTTAGGTCCTTAACAATTTTTTGGAGTCCTTGTTGGGCCTCGGGTCTAAGGGGGTACTGCCTTTGGTAGGGAAAGGAGGTGGAATCCTTTAGTTTAACTAGAACACGACGGGCATTATTTGCTCGTCCATATTGTCCTTCTGTTGCCCAGACTTTAGGATTAATTCCTTTTTCAAGCAGGGGACAACAAACGGGTGTTCCTTTTCCTATGTTCAGGTGTATAATGGTCCCTGCTTTTGTTAGAATGTCTTTCCCTAACAAGGGAGTGGGGTTTTTAGGCATAATTAGAAAAGCATGTGAAAAGAGTAAAGTTCCCCAGTCACAGCTTAGTGGCTGGGAGAAGTATCTAGTGGCTGTCCCAGGACCCCTTGGATAGTGACAGATCTGGAGACAGTTGTCCAGGACAGGAGAGTAAGACTGAGAAGGCCACGCCAGTGTCCAGGAGACAGTTAACCTCCTGGCCCTCAATGGTTAAGCATACCCGGGGCTCTGTGAGGGTGATGGCATGGGCTGGCGCTTGCCCCAGGCACCCTCAGTCCTGCTGCTGGATCATCTGGTTAGTGGCTTCTGACTCAGAGGACCTTCGTCCCCTGGGGCAGTGGGCCTTCCAGTGATTCCCTTGACATAAGGGGCATGGACGAGGGGGGTGGCTTATTTCTATTAGAACAATCTTTTTTAAAGTGTCCTTGTAGATCGCACTGGAAGCAAGCCCTATTAGGCATTCAATTTGTCCAGACTTTCCCTGTTCCAGAGCCTCCGAAGTCGTGCTTGCCTGAGGGCCATGACTAAAGTGGTGGCCTTTTCTTTATCCCGTTTATCCTGTTCTGCCTGCTCCTCCTGATCTCTATTATAAAAAACCGAGGTTGCCAAGTTCAATAGGGTTTCTAAGTTTTGCTCTGGGCCTAAGGTGGACTTTTAAAGTTTTTTTCTAATGTCTGCAGCTGACTGAGTGATAAACTTAACCTTTAAGATTAGTTGGCCTTCAACAGAGTCAGGTGACAGAGAGTTTGCTTCCTCAATGCCTCCCTTAGTCTCTACAGAAAGGCAGTAGGATTTTCTTCCTTTCCTTGTGTTATAGTGAACATCACTGAATAATCTATAGGCTTCTTCCTAGTTTTCCTTAGTCCTTTAGCAAGCAAGTTAGCAAATGTCTGTGGCACCAATTCCATGTTCTGATTCTGTGTCCCAATGAGGGTCTACACTGGGAACTGCCTGCTGGCCTGTGGGGAATTGTTCTTTTTCCTCTGTTGTCATCCTATCATTGACCTGACTGAGATACCAGAGATCACCAAACTCTCAGGCTGCAGTTATGGCAGCACTTCTCTCATTTGGGATTAGTGTCTGATCTAGCAGTAACATTATATCTCTCCATGTCAGATCAAAGGATTGTCCTAACCCTTGTAAAGCATCAATATAGCCAACAGGGTTATCTGAGAATTTACCTAGGTCTATTTTAATTTGCTTCAAGTCTGACAGGGAAAAAGGTACATACACTCTGACAAGGCCGAATTCTCCAGAATACATTTTAGGGGTGTTTTTGCCTTGGGGGGAATGTTTTGCCAGCACCCCTAGTCATTTTCTGATGAGCTTAGTTCTACAGTGTTCTCTATGGTCCTTTCCACGGTGTGTAACCACCCATGGACCTCTGCTTATCGGATTAGTTGTGCTCACCAATGTAGCAGTCCTGCACCCCTTTTCCCGCCTTTCTTGACCACAAAGAAAGGGATCCGGGCTGCTGGATTCTAGTGGTCCTTTACCAGCGTGCCCAACATTGCCTTTGTGCTCAGGGGTGAGTCCTAGAGCTGGGCTGAGTTCCTGAGTCTTTCATAACAACCTGGCTGCCCATCAAGATGCATTCCCATAAACAACAGTTCTTATGCAAATTCGTTTCAGAGAGGGTGAAGGTAACCTTTTGAGTCAGGAGTGAGATGGAGTTCTTTGCCCACTAGGGTCTTTGTCCTTCTTTACTTTTGTAGGAATATGCCCTAAATATTGATATTAAGCTTTTTGTTGCCCCAGATTAAGTCCTTTTGGGTACGAAATATGAGAGAGGGATCCTGTTTATCTTATGTGCCTTTTTCCTACGAGGAGAGCAAGGAGAAAAAGATGGGCTTGCTGGTTTTGTAGGTACTTTAAGGCTTGGCTGAGTGCAAACAGCTCACACGTTTGACAGACCAACGATTAGGGAATTCTCCTAACTCTTCTTCCACAAGAGTCTCACTATCAATTAATGAATACCCATTGTGGTTTTTTTCTCAATCACCCGAGAGGAAGCATCTATCCTTGTGTCCCGAAGGGAGTTCCTCCTAGGTCTGGTAGGACCTTTGTATGGTAATTAAGATTTAAATCCCCTGTTAGGAAAGCTGCTAGGTTAAGGGAATTTTCAGTGGTTAGTGTTAAATCACCGTTTTCTAATAGAATAGCCCGATACTTTAAGATTTTTGAGTTAGTAAGCTACCTTTTTGCTTTTTTGACTTAGGATAGCTCTGAACTGGTTATGTGTGCTCACAATAAGGTTTCCTCTAAAGGTTATTTTTCTACTTTCTTCTGTTAGCAAAGCAGTTACCGCTACTGATTGAATGCATTTGGGCCATTTGTGGGTTACTGGGTTAAGAATTTTTGATAGGAAGGCTACAGGTTGTCAGTGGTCTCAGTGTTTCTGGCTATGCCCTTGTTTACACTGACAACAAGGTAGTATTGGAGTATTATAGGGTCACAGAGAAGACCTTCGATTATCAATTATAGGTTTTAAATTTACCCTGGCTTTTAAAGGAATAGGGCACACTGTTTTTCTTTACTACTTCTATCTTTCTATTTCTTTCTCTCTCTCTCATCTCTGTCTCTCTCTCTCTCCTCTCTGTCTCTTTCTCTCCCTTTTCTCTCTCTCTGCCTCTTTCTCTTTCTCTCCTCTCTGTCTCTCTCTCTCTCTCATCTCTGTCTCTCTCTCTGTCTCCTCTCTGTCTCTGTAGATGGATTTTGGAAAACAGCAGAAGGAAGTTCGCTTGTTGACCCCATTTGCCACTATAGGAATATGTGCCTCCCTTTAGTTTACTCAATTTGCTTTCATCCTGATCTATTATGTTGTTGTAGACCCAGTTCCAGAAGTTAAAGTACTAGGTCATCAGTTCTAAGGCCCTGGCCAAGGAGCCAAGGCTTGAAGATTGTATTGAAGATTGCATTGTGGGGTGGTGGGTCGGGGGATGCTGGGTAGAAATTAGGGGAGGAGAGCATCTTAAACAATGAGAGAGGAATCCTAGCCATTTACAAACTCAGGGCCTGGCAAGAGTGGTGGAGAACGGGTCCCACATAACTGCCCATGTCAAAAGTTATATACCTAAATTGGGAGGGGCACCAGGGACAAGATTCCCTGGTTTCATAGCCTAGATGCCTAAGGATGCAGCATAGCGCTTCCTTAGATCCCTTTGGAGATACAACCTACTCTAATACTTGGGAGAGAAAGTGAAAGTCTGAAGCATTAGTATCTAGGAGGCAGGGATTGGAGGAAGTAGATTCAGAGGTAAGGAGAATTTTGGGGCTACACTTTCAAGAAAGTCATGGTTAGGACCCAAGAGGTATGGGTCAGAAGGACAGGTAGGGGCGCACACATGGGCGACTGTTGAGTAGAGACTTCTAGCCTGCACCATGATCTCGACCGGCCAATGCCAGGGGTTCAGGACGACAGCTTTCTGCCTCTAGTTGACCCTTGGCATCCCTAGGAAAATTGTGAAAGTGGAAGCTGGTTCCAGGCAGACCAACTCTCCCAACCCAGAAGTTGTTAGAAAGCCTTTTCCCAGGAAGCCTCACACCTGAGTCTTTAGTCCGGTGGCCATGCTAATCGTTTTTAACCAGCCGACAGGTGCCCGGTATTTTCCTCCAATTCTAAGGTAGAGGACAGAATAGCAAGCAAAAGTGGTCTGATATTACTCACTGCTTTGGAGAATCCCCATACGAGGCCACCAAATGTTACCAGCGGATCTTTGTTCTTAGAGCTCCCAAGATGATGGTGGGCTGCTCCCAAGATGGGGCAGGCCACTCCCAAGATGGCAGCAAGCCTTTTGTTCTCTGACCTGGGCTTCTTGGCCTCACAGATTCCAAGGAATGGAAACTTGGGCCATGTGGTGAGTGTTATAGCTCTATCAGAAGCCGTGGGACATGGAAGAGAACCATGGAAACCACTGACTAGTGTTCAGCTTGATTAGGATGAACCTCGGCACTTGGTTGTGCAGGAACAAAGGTGAGACTTTAGCCCGATCAGGAGTGGAAATGGGTGCCTTGCTGGATCAGGAGCACAACCTGCCAGATCCAGAGGGGTGGGAGTCAATGGCGGGTCTGCAATGGTGGCAAATAGCAGTTGTGGATGGTGAGCGAAAGCTCAGCTCAAGCCGTAACAAATACGGACAAGAAGAGTGTGCAGTTGCAAGATTTAATAGACTGAAAACAGAGCTCCCATACAATGGGAGGGGACCCAAAGGGGGTTGCCACTCCCTGCTCAAATGCCTGGGTTTATATCCTGATCATTGTCCCCCCGTTGTGCTCTCAGGTGATATATGATTTGACTATTTCTTTACCTCCTTCTTTTAGCCTAATTTGTATTTTAGTGAGCCTTCTTTACTACCTGATTGGTCAGGTGTGAGCTGAGTTACCAGCGTTGTGTTTAAAGGTGGGTGTGGTCACCTTCCCCAGCTAGGCTTAGGAATTCTTAGTCAACCTAGGAAATCCAGCTAGTCCTGTCTCTCAATACTTCAAATATTCTTTACACAGACAAGCCATTTAAAAAAAATTAGAGCTTACCTTTGCTTTTCCATCAAAACATATTGTTACTTCTAGGTTTCCTCTTCAATTTGCAAAAGGAAAAGGAAAATATAGGTAATTTCTCAATTAAACTTACACCTGATTTTCAATATGAGTTTGTTTATTGAGTGTTTGTATATGTGTGTGTTTGGCAGTTAGAAGTATGCTGAGATTTTTATTCTTTTAGCCTTTGGGGGAACTGGACTGGCCCTTCACCTCTGTCCTAATGTAGCTTTTTAATTTTATTACAAATGGGAAACAATGTAATTTTCTGTATGTTTCATCTGTGAAAAGTATTGGAAAGTTTTGAGTTCATATGTATTTTATTATTGAATTTTAAAATATTTAAAATGAACTTAATTAAATCTTAAATTACAGTAACCTTATGCTGTAGTAAGTTGAAGGTAAGCTACCTTCTGTGACCTTGAATAATTTAATTAAATTGAGAAGTCTGTTTTTTTTTTATTATTTGTTTTGTTTTTAATGGGTAAATTAAATGCCAGGCCTCTGAAGTGAGTTCATATAAGGAACTGGTTGTGGGATTTTTTTTAAAAAAAATATGCCTATATTAGAGTCCTACACCAAAAAAATTTAGAGTTTTTGACTCAAACCCAGGCACTGGTATTTGTTCAAGCTCCTGATGTGATAGACCAGTATCTAAGTCCTAATAAAATATGAAATGATCAATTTTTTTTTTTTGAGATGGAGTCTTGCTCTGTTGCCCAGGCTTGAGTGCAGTGGCACGATCTTGGCTCACTGCAAGCTCTGCCTCCTAGGTTCACACCATTCTCCTGCCTCAGTCTCCTGAGTAGCTGGGAACACATGCGCCCACCACCACGCCTGGCTAATTTTTTGTATTTTTAGTAGAGACAGGGTTTCACTGTGTTAGCCAGGATGGTCTTGATCTCCTGACCTCGTGATCCACCCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGACACCGTGCCCAGCCAAAATGATCTATTTTCTAATTATATAATTCAAAAAATTGTTTCAGGAATATTATTCTAACCAGTTTTAAAAGTAACATATCAATATATGTATGACATTAACATTAATGGCAGTTTGTCTCTTTCAAACACAGACTATCTGGTACTTGTATCTAACAATGTATTTACAATTGTGATCATATATGGCTAGTGTTGATGCTATTAATAGGATGTTCCAAACATATATCAAGTTTTTTTTTTTGTGGAAGTCATTATGATAGGTAATCCATATTTGTAGAAGATATAAGCCTTTACACAAAGACTTTAACATAATTACAATTCAGATTAAAATTAGCTTTATTGGGATGCCAACAATGAATATATTAAAGGGACATACAGGCATAACTCATTTTACTGCACTTTGCTGTTTGTATTTTTTTTTTAATTTCAACTTATATTTTAGGTTCATGGGATATATGTGCAAGTTTGTTATATGGGTAAACTGTGTGATGCCAAGGTTTTGAGTACAAATGACCCTGTTACCCAAGTAGTGAACATTGTACCCAATAGGTAGTATAGTTCCTCCCTTTATAGCTATATGTACCAAATGTTAGCTCCCACTTAAAAATGAGAACATATAGTATGCAGTTCTCTGATCATGCATTAATTCATTTAAGATAATGGCCTCTGGCTGCATCCATGTTGTTGAAAATGACATGATTGCATTCTTTCTATGGCTATGTAGTATTTCTTGGTGTATTTGTACCACATGTTCTTTATCCAATCCACCATTGAAAGGCATCTAGAATAATTTCATACCTTTGCTTTTATGAATAGTTCTGCAATGAATCTACAAATGCTTGTGTTTTCCTAGTAGAACAATGTATTTTTCTTTAGGTATATACTTGGTAATGGGGTTGCTGGGTCAAATAGTAGTTCTATTTTAAATTCTTTGAGAAATCTCCACACTGCTTTCCACAGTGGCTGAACTAATTTACATTCCCACCAATGATGTATAAGTGTTTTATTTCTTTGCAACCTTGTCACCATCTGTTATTTTTTGATGTTTTAGTAATAGCCATTCTGACTGGTGTGAGATGGTATCTCATTGCAGTTTTGATTTGCATTTCACTAACAATTATTGATGTTGAGCATTTTTTCATATATTTGTTGGCTGTATGTATGTCTTCTTTCAAGAAGTGTCTATTCATGTTCTTTGCCTTTTTTTTTTTTTTTTTTTCTTTGAGACAGAGTCTTGCTCTGTCCCCCAGGCTGGAGTGCAGTGGTGTGATCTCGGCTCATTGCAATCTCCACCTCCCAGGTTCAAGCGATTCTCTTGCCTCAGCCTCCCAAGTATCTGGGACTACAGGCCTCTGCCACCAAACCTGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACTGTGTTTGCCAGGATGGTCTCAATCTCCTGACCTCGTGATCTGCCCGCCTCTGCCTCTATTCTTTGCCCATTTTTTAATGGGGTTATTTGTTTCTCGCTTGTCGAATTGCTTAAATTCCTTATAGAGTCTGGATATTAAATATTTGCAAGGAATAGTTTGTGAATATCTTCTCCCATTCTGTAGGTTGTCTATTTACTCTGCTGATAGTTTCTTTTGCTGTGCAGAAGCTCTTTAGTTTAATTAGGTCCCACTTGTCAGTTTGGGGGGTTTTTGCAATTGTTATTGAGGACTCAGTCACAAATCCTTTGTCAAAGCCACTGTCCAGGATGATATTTCCTAGGTTTTCTTCTAGGAATTTTATAATTTTAGGTCTTACATTTTAGTCTTATCCATCTTGAGTCAATAATTGTATTTGGTGAAAGGTAGGGGTCCAGTTCCATTCTTCTGCATATTTCTGGCTGGTTATCCCAGCACCACCTATTGAATAAGAGTTCTTACCCCATTGCTTGTTTTTGTCAACTTTGTTAAAGATTAGACTGTTGTAGATATGTGGCTTTATTCTGGGTTCTCTAACCTGTTCTATTGGTCTATGTATATGTTTTGGTCCCAGTACCATGGTGTTTTGGTTATTGTAGCCTTGTAGTTTGAAGTCAGGTAATGATGCCATCAGCCTTGTTCTTTTTGCTTGGGATTGCTTTGGCTATTCAGGCTCTTTATTGGTCACATACGAATTTTAGAATAGATTTTTCTATTTCTGTGAGAAATGACATAGGTAGTTTGATAGGAATAGCTTTGAATCTATAAATTGCTTTGAGCAATATGGTGGTTTTCATGATATTGATTCTTCCAATCCATGAGTATGGAATGTTTTTCTATTTGTGTCATCTATAATTTTTCTTTGAGCAGTACTTTGGAGTTCTCCTTGTAGAGAGCTTTCACCTCCTTGGTTAGATGTATTTCTTAGTGTTTTACTGTTTTTTCGCTGTTGCAAATGGGATTGTATTATTGATTTGGCTCTCAGCTTAAACATTCTTGGCATATAGAAATGCTCCTGATTTTTTAATGTTGATTTTATATTCTGAAACTTTACTGAAATTGTGTAGCAGTTCTAGGAGAATTTTGGTGGAGTCTTTAGGGTTTTCTAGGTATAGAATCTTATCATTAGTAAAGATAGATAATTTTTTTTCTATTTAGATTCCTTTTCTTTCTTTCTCTTGACTGACTGCCCTGGCTAAGATTTCCGGTACTATATTGAGTAGGAGTGGGAGATATCTTTGATTTGTTCCAGTTCTTAAGGAGAATACCTCCAGCTTTTATTCATTCAGTATGATGTTCGCTGTGAGTTTGCCATAGATCGCTCTTATTGTTTTGCGGTATGTTCCTTTGATGCCTAGTTTGTTGAGGGTTTTTATCATGAAGGGATATTGGATTTTACTGAAAGCTTTTTCTACATCTATTGACATGATCATATGGTTTTTGTTCTCAATTATCTTTACATCCTGAATCACATTTATGGATTTACATGTGTTGAATCAATTCTGCATCCCAGGAATAAAACCTACTTGAATGTGGTGAAATAACTTTTTCATGTGCTTCTGGATTTGGTTTGCTAGTATTTTGTTGATGATTTTTGCTTCAATGGGGATATTGACCCGTAATTTTGTTGTTGTTGTTGTTGTTGTTATTTCTTTGGCAGATTTTGGTATCGAGTGATACTGGCTTCCTAGAATGAGTCGGGGAGGAGTCACCCCCTCCTTAATTTTTTGGGATAGTTTCAGCAGTGTTGGTACCAGCTCTTCTTTGTAAGTCTGATAGAATTTGGCTATGAATTCATCTGGCACAGGACTTTTTTTGGTTGGTAAGATTTTATGACTGATTCAAGTTGAAACTCTATTGGAATGTTCAGGGTCTTAGTTTCTACCTGGTTTAGTCTTGGGAGGTTGTATCTTTCCAGGAATTTATCTATTTCCTTCAGATTGTCTAGTTTTCATGGATAAAGTGTTCATAAGAGTCTCTAAGGATCTTTTGTATTTCTTTTTTTTTTTTTTTTTTTTTTTTTGAGATGGAGTTTCACTCGTGTTGCCCAGGCTGGAGTGCAATGGTGCGATCTCGGCTCACCACAACCTCTGCATCCCAGGTTCAAGCGATTCTCTTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCATGTGCCACCGCACCCAGCTAATTTTGTATTTTTAGTAGAGATGGAGTTTCTCCATGTTGGTCAGGCTGGTCTCGAACTCCCAACCTCAGGTGATCCGCCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACAGCACCCAGCTGGGATCTTTTGTATTTCTTTCTTCCTTTTTTTTTTTTTTTTTTTTTTTTGAGATGGAGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGCACGATCTCGGCTCATTGCAAGCTCTGCCTCCCGGGTTCACGCCATTCACCTACTTCAGCCTCCAAATTAGCTGGGACTACAGGTGCCCGCCACTGCACCTGGCTAATTTTTTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTAGCCAGGATCATCTCCATCTCCTGACCTCGTGATCCATCCACCTCAGCTCCCAAAGTGCTGGGATTACAGGCTGGAGCCACCGCTCCCGGCTGGATCTTTTGTATTTCTGCAGGATTAGTTGTAATGTCATCTTTGTTGTTTCTGACTGTGCATATTTGAATCCTCTGTTTTTTTCTTTTTAATCTAGATAGTAGTCTGCTGATTTTGTTTATCCTTTTAAAGAAACAGCTTTTGGTTTCATTGATCCTTTTTATGAATATTTAGGAGTTGATTTCGTTTTCTCCTTTGATTTCAGTTATTTATTCTACTAGCATTGGGGTTAGTTTGTTCTTGCTTTTCTAGTTCCTCTTGGTGTGTTACTAAATTGGGAATTGCAGATCATTCTAACTTACTGATGTAGGTGCTTAGCACTATAAGTTTTCCTCATAATACTGTGTTTGCTGCATCTCAGAGATTTTGGCATGTTGGTTGTGTCTCTGTTTTCATTTATTTCAAATTTTTTTTTGATATCTGCCTTAATTTTATTGTTTACCCCAAAGTCATTCAGGAGTAAGTTGCTTAATTTCTATGTAATAGTGTACTTCTGAGAGATCTTCTTGGTATTGATTTCTACTTTTATTCCACTGTGGTCTGAAAGTATGGCTGGTATGATTTCAATTTTTTGAATTTATTGAGACTTGCTTTATCTCCAAGCATATGGTCAATCATAGAGTATGTTCTGTTCACAGACGAGAAGAATGTATAATCTGTGGTTGATGGGTGGAATGTTTTGTAGATGTCTATTAGGTCCCATTGGCTAAGTGTTGAATTGAAGTCTAAAATGTCTTTGTTAGTTTTCTGACTTGATGATCTGTCTAATGCTCTCTTTGGGGTGTTGAAATCCCTACTAGTATTGTTAACCATCTAAGTCTTTTCATAGGTCTAGAAGTACTTGTTTTATGAATCTGGGTGCTCCAGTGTTTGCTATGTATATATTTAGGATAGTTTAGTATTCTTGTTGCATTGAACATTTTATCATTATGTATTGCCCTTCTTTGACCTGTTTTATTGCTATTGGCTTAGGCAGTCTGGCCACTCCTTGGCACCATTACAGTAGCTTCTACTGGGGCTATGGCAGCTGATGCCTAGCTGCTCAGGGATCCAAGGCCTGTGCGGCTCCACTGGGCTTAAGTGGTACCCCTGCAAAGATTCCAGGCTGGTCTCTGTGTTGATTTGGAGTTCCACTGAGGTCAAGGGCTTCTCCCATGCCCAGGATTGCAAAGGTCCATGGCAGATGTTTGGATCCCCTGGGAACTCTCACTCATCAACCCTTTCCTGACTTAGGGAACTTTCCCCAGGTCTGTACTGGTCCCAGGTGGGCAAGTCCTTGGCTTTGCTCCTCTCTTCTCTGTGAGTCCTCTTGCTTTCTTGTTGAATCCCAACATGACATCTTAGATGATCTACTTGAAGTCGTAGCATTTACTCACCACTTTGTTTTCTCTCCATGAGAGCAGCATATACTAGCTACTTCTAGTCAGCCATCTTGAGCACCTCACCTGTTTTCCAGATTGGAAAACTGCCCATATCTGGGGAGCTCTGCATTTTTCTTTAGAGTGCTTCACAGATACTGCATTTTTTACAAATTAAAAGTTAGTGGCAACTCCAATTCCAGCAAGTCTATAGGCATCATTTTTCCAAGAACATGTGCTCACTTTGTGTTTCTGTGGCACATATTGGCAATTCTCACAATATTTCAAACTTTTTCATTATTATATCTGTAATAGTAATCTGTGATCAGTTCTCTTTGATGTTATTATTGTCATTATCTTGGGGCAACATGAGCTATGTCCGTATAAGATGGTGAACTTTATCAATAAATGTTGTGTGTGTTCTGACTGTGCTAGAGACCAGTTGTGGGGATATGTGAGGGCAGCCATGTTGCCAGGCACATGTGGGGACAAGAGGAAGACAAGGGAAATCACCATGTTTGGTGGACCCAGTTTCTAATGGCCTTTATTTGCATATTAAAGCTTGCCTGCAGGCTCTAAGAGCCGGGGCTTTCCTGTTAGACAAGAAACATTTCTGGAGCTGCTTTAAAAGAAACAAAAACTTCCCAAGGACGCCTTTTCATCTCTATCTGCCTAAAATAATTTCTTAATAACTCCTATAACAAAAATATACTGCAAAAGGGTCATACCTGAGAAGTCTGCTTGTTGAGTTGTGGTAATTTTTGCATAAATATTCTAGAAATATATTGTATGAGGTGGGAAGTGGTGGTAGTGAGCAGATCGTGAGACATCAGCTTAAGTATTCATTAACTACTTCAGGAAACTGGAGATTGGAGGTCTCCAGTGGGAAGGAGATTTTCATGAACTCAGAAAAAATACTTCATAAGGGAAAGAGCTAACCAAAAAGCACCAAAGCTGGACTAAGATTTTCTTGCCTTTCTTTTTCCACTCCATTGGAGGAATAAGAAGCAGCAGCAGTGAGGAACAAGAAAATAAATTGTTAATAGACACATTCCTTTGTTCCAAACTGCAGTTTCCTGAACTTAAGTCAAGCATGAGCTAGGGCTGGGGAGAAGATTTAAATCTGAAGTGATGTTGATATTTTGAAACTAGTTCCTAGGTTAAGCTTCATATAAACTAAAAGAGTAAGCTCATAAGGTCCACAGTGGTGGACATTTTTGATGCACTAAAATGCTCCTCAAGCAATAAAGTGAGTTTTCAGAACCATGAGCTTTATAGCAATCATACTGTAGCCTTTTCAAAGAAAGGAGCATTCCAGAAGAATGGCTCTAACACTGTTGACTTAAGGACTAACTGGAGCAAGCCCTGCTTGTTAAAAGCTGAAAATCTTGAGCTCGTAAACAAGTTTGAAGTCAAGTGAACTTTTAAGCAGAGTGCTATGGGTTGAATTATGTTCCCTAAAAATTCATGTGTTGACAGCCTAACCACCTGTTCCTAATACTGTCCTTACAGAAATAATCAAGTTAAAATGAGATATTAGAGTGGGCCCTAATTCAATATGTTGTGATGTTCTTATAAAAGGGGGAAATCGGGAAACACACAGGCATACTGGGAGAAGGCCAAACACACAAGAGATGGCCATCTGTAAGCCAAGCAGAGAGGCCTAGAACATATTCTTCCATCACAGTGCTTGAAAGTAATCAACCTTGTCAACACTTGATTTTGGACTCAGAGCCTGCAAAATTGTAAGACAATAAATTTATGTTTAAGCTACCCAGAAGCTTTAGTTCTAGAAGCCCTAGTAAACTAGGGGGGCTTGTTACATGAAGCAAGTATTCCCAGCTCAAGGAGGATTTACTGAATGTGGAGACTTGGCTGATAGGGGGAACTGATGAACTCTTTTAACATGCCCAATCTGTGCCAGAATTTGAAGTGTGACCCTAAGACAAGGCTCAAAAATCTCTGCCTTCTTTTTGGAATAAAGTTTTTAGGATCACTGCCACATTTATTTTTTAATTATCTATGGCTTTTTTAATCCTATCATAACAAAAAAGAGGAATTGCAGCAGAGACTGTATGGCTTGGAAAGCCTGAAATATTTACTTTCTGGCTTTTTACAGAAAAAGTTTGCCTTGCCTTGCTTAAAACAAGGGTACTGGTTACAGATCCTGCCTGCTGGGTATTAACAGAACAAATGCAGCAAATGATGCTGATCTGAACATGAACCCACAGGATCCCCAGATCATGACACCTCTCAGTGTTTACTCAGAGTAGATCTGGACAGTATGGATTAAGAGGAAGAAATTGAGACACCTTACCCCCCTTTTCCTCCCTCTAATAAGATCAGGCTAAATTCAATGCAGGAAGACTTTCCAGGGAATAAGAAGCAAAGGCACTAAAAGAAAGAGTTGGAAAACAATACCTACAAGAAGAGTGAACTGCGGTCTTGAAGCATTGTGACTTAACCAAAATTTTGGGATTTACTAACAGGACATGTGTTAATCAAGCAGTTCACTTTGAAAAGGAAAGTTCTAGTAAGCTCCACGGCCTTTGTGAAAAGGCCATTGAAGTGAGAGAGAAAACCAAGAGGACCATTGAGAAACTGCAAAAAATGTATGCCCTAATTGGCAATACCTACTTTAAAGAAAAATGTAATAATATCACAATCTCTACAATAAATGTTTTAGCATAGCACTAAACCCACAATATGCTAAAAAAGTTGTCAGTAGAGGAGACAGAAAATAATCCTAAAGAACAGGATTGACTGGTGTACATTAATCCTGACTTGCCTTTGGGAAAAAAAGGTAAATACAATAAATGCTTCAGAAAGGGGACCCTCTCCCACTTCATAAGCATTAAATACTAAACAAGATGTGCAACAGAATCCACACGACATTGAGTTGTGCAAGAGTCAGCAGTTGGCACTGAAGGACTGGGAACTATGGATGAACCCAGAGCTCCCATATTCTCAAGGGTTGTGTAGAGAAAGCACAGGAGCCATGAAAACTGTGGATATAATCCCAAAGGCACTAAACTTGGACTCAAGCTATAAGGAGATTATCAGTAATGTCCAAACCATTGATGTGATAACCTTTTATTAAAAAAAAAAAAATTAAATAGAGATGGAGTCTCACTATGTTGCCCATGCTTGTCTTGAACTCCTGGGCTCAAGTGATCCTCCCAATTTTGCCTCCAAAAGTGCCGGGATTACAGGCATGGGCCACTGTGCCTGGCTGACATGATAACCTTGAGGATGGGAAATGGGGAGGCATATCTAATCCTAGATCCAGGAAATAATGGATACCTTAACCAAGAGGAATCTTCTGGCACACATGTGTAAACAATATATACATATATTTTATTGGTCAGGCTTAAAAGATGCCAATGAAAAACAATATCTATAAAAGGGATCAGGTTGAAATAGATGGTATGTCTTTAAAAAGTCTTTAAAGGTTTAATTAAGTAGTCTGAAGTAAAGACCAACATAGTACTTAATGATTCCAGTGAAATATAAACAAGAAGCTTAGTCTTTTTTTCCCTAAGATATAAGAGAAAACTCAGTAGTTTACAAATGTGATTGTAAACTTGTGACTTTCTGGACTACGTCTTAAGCACATGGATTGGTTTGTTTGCAGTGGGTTAACTGTAGGATAAAAATCATCAAAGTTTGATTTATATGAATAAGAAGTAGATGTAGAAAACAATCTTTGCCTATACATGTGTTAGTACTATGTGTACGTGTGTATGGATATAGAATGAAAAAAACCGCATAAATCCAGTACATCTACTTAAGTTATGTAAATAATTATTTGCATTTTTTAAAAAAATTGCCATGTCTACAACACAAATTAGTACCGTGTTAGTACTTGACTAAATTCTGGTAATCTTCTTATACAATTAGATAGGCTGATGTATTTCCTAATTAAAAACATTTGTTTTTAACTCTTTTCTAATGCTTTGGCAATTCATGATTGGAAGTACTTGCTAATTTAGATTTCCTCATGGAGCACAGTAAATATGAGAGATCCTCATAATAGCCTCTATAGGTTTAAATTATATTTTAAATGTAAATGCAAAACTTAATTATTTTTTAGAGGACCTGATGTCATCCTTGGGAGTAATTTTTAATTACTTTTTATCCTTCTTAGAGTTGATTGTATTAATTATTTGTACTGGCTTAACAATACCATACTGAAAAAGCTTTTATTTTTTTTTTTTTTTTTGACATTTCTTCTGTTTCAGTTGATTTATCATTAGTGAATAAAGATGAAAATGCCATCTATTTCTTGGGAAATTCTCTTGGCCTTCAACCAAAAATGGTTAAAACATATCTTGAAGAAGAACTAGATAAGTGGGCCAAAATGTAAGTATTATTTTAAAAGCTACTACTCTACATCTCATACAAAAATTTACAAAATCACATTAGGTTGTCTAATATTTGGAAAGATGTGTAATAGAATCCTAGTACAGTCATCCCTTGGCATCTGTGGAGGATTAGTTCCAGGGCCTCCCTATCATTCCAAAATCCACAATGGTCAAGTCCCTTATATACAAATGGCATCATATTTCCAAAGAACCTAGGCCTATGCCATATACTTTAAATAATCTCTAGATTACTTATAATACCTAACACAGTATAAATGTCATGTAAATAGCTGTTATACTGTATTGTTTAGGGAATAGTGACGAGAAAAAAAGTCTGTACATGTTTAGTATATATGCAGCCATCCATTTTTTTCCCCAAATATTTTTGATCCGCAGTTGGTTGAATCCATAGAGAGGGAATCCATGGATACAGAGAAACTTTAGCTGCTCAGTAGTCTCATTTGATTGATGAAATAACTGAGGATCAGAATAAGGTGACATAGCAAGCTAGTGGCAGAATCAGGACTAAAAACTTTTACAATATTTAAACGTTTAAGTTCCTCTCATGTGTTGACATCTCTAAACCACATGTAATCATTTTATTTTATTTCTTTAGTAACTAACAGAGGAGTTAATATTCTGAAGCTTAATTTCTTCATGATTAGGCTAAATTATCAACACTTACTTTTATGATAACCAGAAATATTTTCTAATTATTTGAAACTGAAAAATCAATATGAAGATGAGCCAAACTTGACAGTTAGGAAAACGTTTCAGAAAGATGAAACCAAACCAAATAGAATTTCAGAGGAAAAACATTTGGCTGTCATAGAAACTCAGAATACATTCTTTACCTTTCTTCATTCTTCATGCTACTGGTTTTCAAATTGGGAACAATATCCATTCTTTAAAGTTTAGTAGGCCAGTCACAATGGCTCATGCCTGTAATTGCAGCACTTTGGGAGGCAGAGGTGGGCAGATCACTTGAGGCCAAGAGTTTGAGACCAGCCTGGCCAACGTGGCGAAACCTCACCTCTACTAAAAAAATACAAAAATTAGGCCGGGAATGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAAGCTGACATGGATGGATCTCCTAAGCTCAGGAGTTCGAGACCAGTCTGACCAACATGGTGAAACCTCGTCTCTACTAAAAATATAAAAATTAGCCTGGCATGGTGGCAAGTGCCTGTAATCTCAGCTATTCAGGAGGCTAAGGCAAGAGAATTGCTTGAACCCGGGAGGCAGAGGTTGCAGTGAGTGGAGATCACCACTGTACTCCATCCTGGGCGACTCTGCTTCAATAAAATAAATAAATAAATAATGTTTAGCTTACACTGTGCAAATGATTACAACTATGGCTATTAGATAACACTGTGAAGTTCTTAATTTTAGTGATTAAGAACGTAATTTCACAACTTGATGTAAGAATGATAGTTTATATAATTTATTAATCATGTTATAACTTTATCTGCATAACTTTTATGCATAATTTGCAAAATACATACCACCACATTTGCTCTAGCAAGTTTTAGTATTTAATGAATGGGGGTCATAGTTAATAAAAATGGTTAATATTCATTTTTGGCCTTAATGTAAGAGAGGGCAGATAATTAGATTGAATGAATTTGAACTTTATAGAGTGTCCTTGCCTCTTGGATATTCATTCAGCAAGGTTGTGAATTTTTATCCCCTAAGCATTTAAAATATATTCTGCCCTGCTATTCTATTCATATCCTTATGGTCATCCACTTAAGTAAGAAACCGGTTGATTATTTTCAAGACTTTAAAGTTGCATTTCAGGAAAGCACCTCATGCTCTTCTATTGTTTTGTCTTTTATATTTCACCTTGTGATGATGGAAAATTTCATCATTTTAATTAAACCTTCTTACTGAGTTTTCATTAGACAGATGATTCAGAAAGGCTGTATATTTTAATGCTTCAGGCAATGTACAGTGAATTAAAGAAGACTTCTAAGCAAATGGACATCTATTCCATCCTCGCTTTGTTTATTTTAGTCTTCTTGTTTTAAGCTGTAGTGACTCAGTCAACATCATGGACCCGCCCATAAATGTCTGTGGTGTTTGGGATGCCTGATCACCTGCCTCTTTTTCCTACCTCACCCATCGTTTTTGATCCCAAAAGTGTTTGCTCATTATTATTTTTTACCTCCCAAATATTTAGCTTAAAATCCCACTTCTGATGTTTTCCAGCTGAAGTTCTGTTGGGAGGAAACTTTTTCTCTACCAAATGAGTACTTAGGTCAAAGTGATTGAGGGCCTGCCAATTAATTGACAACAGACAGGTTAACAGGAGAAAAGTTTATTTCACACTCAGATACAAGAATTCTACAAGGGGTAGTTTGATGAACAGCCATGGGTAAGGGTTTATATACCAGCTTGACTAAAGGGAAGAGTTTTAGAGCTTCAGTGGGAAAATATGAAAGTTTCTATTGGGTTTTTTCATCATGATGCTAATGGGCAGTATCCTTCCTAGCTGGAAGCTCCCAAGAGGGAGATGAATGGCAGCTGAATTTGTACCTCCAGGTGCTAAGGTCCATCTACCTCTGAGGATGGGTCAGTAGCAGCTGTATTTTTAGGAGGCTTTGCTTAAGTTTAGATAAATTTCTTTCTGTGGCTGCTCTTTGTTCAGATGTGTTCAAAGTAGTCAGACCAGGCATAGTGGCTCATGGCTGTATTCCCAGCACTTTGGGAGGCCAATGTGGGTCACTTTAGCCCAGGAATTAAAACCAGCCTGAGCAACAAAGAGATGGATGCAGTGGCTACCATCTGTAATCCCAGCACTTTGGGAGGCTGAGGCAAGCGGACCACAAAAGCCCAGTAGTTCCAGACCAACCTGGGCAACATTGTGAGATCTCAACTCTACAAAAAAATACAAAAATTAGCTGGGCATGGTGGTGCATGCCTGTAGTCCAAGCCACTTGAGAGGCTGAGGTGAGAGGATCATTTGCACCCAGAAGGTCAAGGCTGCAGTAAGCTGTGATTGTGCCACTGTACTCCAGCCTGGGCTACAGCAAGACCATGTCTTTAAATACATACATACATACATACATACATACATACATACATACATACATACATGTAGTCTTCATGCCACTTCAGTGGTCTGTTGGTCTCTTCAGTTTTCATTCTCACTGTTGCCTTGTTTTTTTGTACTAAAATCAAACCCTGCATGTGTTCAGTTGCCTCTACATCCAGGGCCTCCCATTATTGTGGTAAATTTTATCTGATCACTTCTTCCTCTTTGCCTCCCTCTATGCCACTTCTGCTCTACTTCTTGGTTGATACTCAAGCCAGGTCAGTGACTCCCTTTCTTCTTGACCAATGGAAGATTATGGGAATCACTGAGTCAAAGAGGATTACACACTTATTAAATACTACAATGCACATTGAAAGTAGTTGCTTAGTTGAAAAAGATAATGTTAAAAATGTATAATCTTGACCAGGCGTGGTGGTTCAAGGCTGTAACCCCAGGACTTTGGGAGGCCAAGGCAGGCAGATCACTTGAGTTCAGGAGTTTGAGACCAGCTTGGGCAACATGGTAAAACCCTGTCTCTACAAAATATACAAAAGAAATTTAGCTGGATGTAGTGGCACATGCCTGTAGTCCCAGCTATTCGTGAGGTTGAGGTGGGAGGATCGCTTGAGCCTGGAATGTGGGGGTTTGCAGTGAGCTGAGATTGTGACACTGCACTCCAGCCTGGGCAGCAGAGTCAGACCCAGTCTCAAAAAAAATTATAATCTTAACAGTAACATAAAAATTAGAGTGCTTCAACAAAGCAAGATTTTACACAGGCATATAGATGTCAAATCTCTGTCTATCCAAGTATTGTAAAGTAGGAAATGCCATTTGGCTCACGGATTCCATCTTCTCCAGTTTTATGGCCTATTGCAGACATATTGCCTACCACACCTAAGTATTGAATAAATGATTTTTTGTCATAATGCAGCCTGATTTTGTAATTCATAAGGCTACCATCTTTGATTTCTTATACTAAGGAAAAGCCAAGAATAGAGGTACAACTAGAAATATTTTAGGATCTGTCTTGGTTTGTTCCCGCTGCTATACAAAATACCTGAGTCTGGATAATTTATAGAGAAGAGAAATGAATATTCTTACAATTCTGGAGGCTGGGAAGTCCAAGATCAAGGTGCTGGCTGACTTAGTGTCTGGTAAGGTCTGCTCTCTGCTTCCAAGATGGTGCTTCTTGCTGTAACCTCATGTGGCAGAAGAGGCAAACACCTGCCTCCCACCTGTTTTACAAGGGTACTAATCCCATTCATGAGGGCTCTGCCCTTATGACTGAATCACCTCCTAAAGACTCTACCTCTTAATACTGTCACATTGGCAGATCAAATTTTAACATAAGAATTTGAAGGGGACACATTCAGATGATAGTAGAACCAAATGATTTCTAAAACTTACACTTATTTAAGGAAAACTGTGAAAATAGTTTTCTTAGAATCTTTTACCTCTGTGTTAGTTTTAAAATTCTATTACCATTAATTTGCATTTTCATTTTCAACTCTATGGGATTTCTAAAGTAGATTAATAACACATTGAAGAATATATTTGTTTTGCAAAATGGCAATATTTAGGCAATTCCAGTATTCTGAAATATAAAACTTTTTGGGTGATTATATTTATTTGATACTTAATAATTATAAGTAAAAAGGTTTTGTAACAAGAAGAAGCAACAATATGCCTGAAGCCTATGGGTCTGTTGGAATGAGTAGGCAATAGGCATGAAGTATTTGGGAATAATAGTTTATATTAAATATTTACTAATGACCTGGATTATTTAATGAAGAATAACATTGGTTAATAATCATAATGCCACAATTCAGCTAGAACAGAAGGATATATCAGTCCTAAAGAGCATATTGTAAGCTGGGAGATGGGTATTATGTTCCTAAAATAGAATCACAATATTTTAGGTCATTTACATTGTCAAATCTGCTACATAAAGGGTGTTCTCTCTTTTTCATAAGAGCAAAAACCTACTACAGTTTTGTCTCTACAGGGATTCTTCTAAGAACTGTGACAGTTTAGGTAAGATTATTTAAAGACAAAAATGTCCCTTTGAATTAAATATCAGGAATAAACCACAGAGTTTACTTTACATGGCAGTGTGTGTGTGCTGACAGGACACTGATAAAACATGCCAGAGAGATGTAGATGCCTCCTTCAGACCCCTCTAGTCTCATTTAATTTAAGGATTTCTTCCATTAAAAGCAATAGTGTTTGAATAAGAGAGCACTAAGAAAATACATAGAATGGCATGTTACAAAGATTTTTCACAACATCTTTGTTTTTGTTTTTCTAATTAACATTCTTTTTTTGGAGTCAGGGTGTCACTCTGTTGCCCAGGCTGGAGTGCAGTGGCGTGATCATAGCTCACTGCAGCCTTAAACACTTGGGCCCAGGCTATCCTCCCACCTCAGTCTCCTGAGTAGCTACGACTATAGGTACATGCCACCAAGCCTGGTTAATTTTTTCTTTAATTTTGTAGAGACGACGTCTCCCTATGTTGCCCAGGCTGGTCTCAAACACCTGGTCTCAAGGGATCAACCCACCTTGGACTCCCAAAATGCTGGGATTACAGGCGTGAGCCACCGTCCCTGGCCTCTCAACATCTTTATTGGCTAATCATCAATTGGATCATGGAAAAAAAATTATAATGTAATGAAGGCAGCCCATGAAATTGTAATTATTTACTTATGGAAGGAAGCTTTCTAAAAACAGGGCCATTTTTCACTTTGTGGGATGGTTACAGCATGGTCCTACTTTAAAGAGGATCCAGGTTTCTATTAACTTCCTAATTTTACATCCTGCAATTCTAATTTTGTGAGTAAATACTCCTAGTAGATGTCTCAGAAAACACCCACTTATAGCAATGATTTATTCTGTGGCAGTGAGTTAACTCTCTCCCATGCTCTCTTTTCCTTTCCAGCATTTGTAAAAGAAGATTACATCTATGCTGCGACTATTTTAAGTAGCTTTGTTTGAACAATATATTTTTTCTTAACTTTAATACTGATGTTTATAACGGCACTTTAATCTACATCAACTCTTTCTAATGACAGGCCACTTTACTTTGGGTTTATTTGGGTAACACTTTCTAAATACATTTCACTACCCCAGGCTAGTGGGCTAACAAAATGAAGAAGCAGACTCTGTGTGGTATTTTAAAGGGAGGGAGATGCCAAAAGCATTGCAGGAAGAAACACATCCTTAAAGATTATTACCACGGTGTCTACCAGAGTAAGGAGTAGGTGGCATAACATTCTGAGATATAAATTCTCTGAGGCAGAACATAGAATTTTACTACCTAAATGTAATAAGATGTATTGTGCTATCAGCAAAGGCCATGGAGCTCTATGTGATGAAAATAAAAAAGGATCCAAGTATCTTCCTTTAACTACCATTTAATGATAATGATTTTTGTCTTTAGCATTTATATTAGAAATCAAGAAAGAGGCAAGCTGCAGGCTATCTAATAATAATACAAATAATAATAACTAACAATTGCCCCTCTCTTCCATCCTTAGTTCTTAGCAGCCTATGTTTATTCTCAAAGAAAGTCCTCTTCCTTCATCTTAGTTTATATGGTAATAGAAATGTTAGTTTAAAAATTGTGTTCTACACCACATGCTGATGAAGGTAGTTTTAGCATTAGATTTACATTAGGAAAGAAGACTCAGAAACAGGGTACTATGTAACCGTCTCTTTCACATGTTATCTCATTTATTTCTCATGGGAATCCTTTAAGGTCCATATTGTTACCCATTTACTTGTACAAATGTGGAAAATGAAGCCCTATAGCTTCCAATAAATGTGGTCTCATGACCAGTACTGACCTGGAGCTGGCTTATACCAGATGTCAAAAGCCAATTATTAAATACTCAGAATTTCTGTTGGTAGTATGAAATCACCCATGATGGGAGTATTTATACCTTGGAAATCTGCAAAGGAGGAAAAACAGTGCTCTAGTCCTCTGGTCTTACCACCCCTTTTAGGGAGTACCAGCCCACCAGCACCAGTTTACTGACACAGATTCAACCCAGGTTGGTACTATACAAAAAGCACATTTTCATTCCTTTCTTTCAAGATGACAAACTTTTGGATTCCTAAAGAATTAAGAACTGTTACCCAGAAAAAATGGGTTTTATTCTTTTGGTGAGTAACAAAGGTCTTTCTGGAGACATGGATGATGCTGGAAACATCATTCTCAGCTAACTAACACAGGAACAGAAAACCAAGCACCGCATGTTCTCACCCATAAGTGGGAGTTGAACAATGAGAACACATGGAATCAGGGAGGGGAACATCACACACTGGGGCCTGTGGGGGGTGAGGGGCTAAGGGAGGGAGAGCATTAGGAGAAATACCTAATGTAGGTGACGGGTTGATGGGTGCAGCAAACCACCATGGCACATGTATACTTATGCAACAAACCTGCACGTTCTGCACATGTATCCCAGAACTTAAAGTATAATAAAAAAAAAAGTCAGAGGAATATATAGCAGGCTCAAATATTTATCTTTTTAATTGTGAAATCATCTTTGCAATATTTATTATGAAATAAGTTTTAAAATATTGCATAATTCTAAAATATGATTTAAAATAAATTATTTCTCTGTAGTAAAAAAAAATAGAGCAGGTTTTGATCAATAGAAGTTTGATTACTTGGCATAAGTAAGGAGGACACTGGGAGTTTTCACAAAAGCAGTGTCTCCCAGAGGAAAAGTGACAGGGAAGTTTTATGGGGTGATAGGGAAGAAGGTGCATCATCTCATGTAGAGGAAGAGTTCCAGTTGCGGAGATGCAGTGAGTAATCACACCAGTGCGTAGATCGCATCTTATGGTAATGAAGCTATAGCTCCTCCCCAGGGTGGAGACTTTAGCATGGTAATGAGGAAATTTCACACAGACTCGTCTATGAGTTGCTGGGGTCTGTCAGAAGCTTGCCCTAACCAACAAGGTGACAGCATTACACACCAGGCTTGGGAAAAAAACAAGTGATAGGGCAGGAGGCTGTAAAACAGGCTGATGGTTCAACTTTATTAAATGTTATAATCCCTGGAGACCCCCCTGCCTGCTTACAGAACTATCACATTCAGGGCATCATAAGATACAACAATGTAACAGCACTCAGAGGCGCTTCATCTTAATCCTCTGTTTTAATTTCTTCTATGTTTTTCAAGTGTATTTGCCTTCTTCATTTCATGGAAATTTCTTGAAAGTTGAAGTACTCTATGTATTTTGCATTTTTCTACTATGCCTCCTGGGATACTTACTAGAATAATAAAATTGAGCTGGAATGTGACAGATGAAATTGCTAGCAAATATGTCAAACCAAGTAGTATTGGCTTTGATTATTCATAAATTTTGTTATTTACCTATAAAATGGTATCATGAGTATAATCACATTTTATACACTTCTATTAAATTTACAGATTATAGCTATATTTCAATTTATAATCATTTTAGTCTCTAGCCTTACAAAATAGTATGGAAGTTTTAGTATAGATACTACATTCTACAGGTATAAAAGTAGTGTTCAAATAATCTTAAAAATTGCAAAATAACTGAGACCAAAAAAATTAGACTCTAGAATATAGCAAAATATTAAAATAACATATGAACAATCTCCCCCATTCCTCACAAAAAGAAAATAAAAGAAATTTAAAAAGAGAAGTTAAAAGACATTAATCCCAAGTATTATATATTTTGTTTTAAAAAGGCCTGATTTTATATAATTACTAACACATAGAAAGGTCCACATAGAAATGTTTATTTGCTAAAGCTGATATTTGAAATAATCACACACATGCACATAAAAGCTAAGATATGTTTATGTCCGTTTTCAATTTCAGAGCAGCCTATGGTCATGAAGTGGGGAAGCGTCCTTGGATTACAGGAGATGAGAGTATTGTAGGCCTTATGAAGGACATTGTAGGTAAGTACAAAACACTGAAGTTTTTCCAAATGAATTGTAAAGATGTTATCATTTAGTTATAAACACAGGCTCATAAAGTCAAAATCTTATTGAAGAACATAGTGATTTTCTATTTTAATCTATAATAGTAAAAAGGAAGTACACTTTCAACTTAAATTTGTTAACTCAAAGATTGCTATGGTGAGCATAACAAGGTTATTTATATAAAAATAAAATATATGTTATTTTTTTCTGTCATACTTTAAATGTAATATTTATCACACATGAAAAACACATACATTGTATTAATTTATAATTGAATACATTTCATAAAAATCAACTGAAATGAATTTTCTATAATTTAACTATTTGATATAATGAACATTTTCACATGCTAAAGGTGTAAAACACCAATCATGTTTTTGCTCATTTCAATTTAATCTTTGGTGATCTATTTAAATTTTAGCTTCATGTTACTGAAAATGACATAGCTGATGCTGTTTTTAGTCTAAAATGTGCTATCCTAAAGAGAGTTATATATACTATCGGTGGTATTTAAGATAGTTTTAGATGGTAAATGTGTTAACATTTTGAAAAAATTTATTTAATTGGCTTAAATATTCAGCATTGTTTAAAATTTAAGGTACTGAACAAAAAAATTAATGATATTTTGGTAATTGGAGTGGTGCTATTTGGAACTATTTTAAGGACTTAGGGAAAACTCAAGTTTTCAAATCCTTTTTGAAAGCTTATTCTCTTATAAGCAAACATAAAAATATCTTTATTGCTTCATTCCATTTGAATCTTGACCAGTAATTAGAGAGAAAATCAACGTGGCTGGAAGGGAAATGGAGTGGGGAAAGCTGGACTTATGCATAGAAAAAACTATGGCAACTGGCAAATCATTAAAATCTGGAGACTATCTTGTTTATTTAAAAAGTAATTATTGATTTTTTGCTATATGTCATGACTTGTGGGAGCTCTGAGGACATAAAAGTGAATAAGGGCTGGGCATAGTGACACACACCTATAATCCCAGCACTTTGACAGTCTGAGGTGGGTGGATTGCTTGAGCTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAGATCCCATCTCTACAAAAAAATTTTAAAAATTAGCCAAGCATGCTGGCACACCCGTAGTCCCAGATACTTGAGAGGCTGAGGTGGGAGGTTAGCTTGAGCCTGGGAGGTTGAGGCTGCAGTGAGCCCAAATCGTGCCACTGTTGTTCAGCCTGGACGACAGGGTGACACCCTGTCTCAAAAAAAAAAAAAAAAAACAAAAAACGAACAACACTCACCTTCCTTATCCTCATAGACTGCCAGTAAAGGAAGATGCAAATAAATCCAAAATTAATGTACATACATAAGTAAAATACAAAGAAATATAAAATTAATCACACTACCAAAGAGGCATAATTTTCCAGTTGATTTAGGACTGAACACATGCATGTAACTACTCTTTTTTCTAAAACCTCACCAAAGAATTCTGAATGGAATAGAAAAAAAAATTACAAAGTCTAAACTGCAGAGGACAAAATAGAATGCCAAAGGAGATGATAATAATATCTGGGGAGTTGGCTCGCTGATAGACAAGTGGTAATTGCCTTTCTCAAAAAAAAAAAAAAAAAAAAAAAAGTAAACCAAATCCTAATCTCCCAATGGCAAAAAAATAAAAAGCCAGCTGCTTTACCCTGCTAATCACCTGACCATGAAAAGAGCCAAATTCTGTAAAATATTTGAAGAGTAAATTTTTCTGTAAAATATTCTGAGCCAAATATGAGTGGTCATGACCCAAGGCACAGTCTCAAGAGGTCCTAAGAACATGTGCCCAAGGTGGTTGGGTTGACAAAAGACATCAATCTACACATGTGAAGTATCCATAGGTTTGGGGGAGAGGAGGGGACAGGCGCACAGGTGGGAAGTGTAGTAGTTTATAGGTCATAGGATTATAGATGGAGTCAAAGATTTTCTGATTGGCAATTTATTGAAAGAGTTAAGTTATTATCTAAAAACCTGGAATCAATAGAAAGGAGTGTCTGGAGGAAGATAAGGGGTGATGAAAACCAAGGTTCTTATTATGTAGATAAAGTCTCATAGGTGGCTGCCCTTACAGACAATAGATGGCAATTGTTTCCCATTCATACCTGTAAAGGGTTCTAGTCTCTCAGTTCATCTCTTCAGGATTGGAAGGGACTGAAAAGGGAAAGATTTGGTTATATTCTTCATATTCTTGACAGATGTAAATTTTCCCTCACAACAGAAGGCTTTGTAGGGCCACTCAAAGTATGTCAAAGAGACATATTTTGGGGTAAAATATTTTGATTTTCTTCTTTATCTGTCATTTGATGTTACGCCAGAGTAAGGTTGGAAAGTAAGCTTGTCATATAGGATAAAATAAAACCCATCTGGTGAGATTTTATGGTTTGTAGGATGTTATTCCCCAGGCCTCTTAGGAATTTGGGCAAGACAGAAAAAAGGTCAGAGTTTAGTCCTCACACCTCCAGAAGGTAGTGATGAAAATATGAATTTTTAAAAAAGAAGATTTGTTGAAATTCTGTTTAAAATACAATTAGAATATCAGATCCCCTTGCCAACTTGATGCTGCAGGTGAATACTCCCACACCCCATTTCAGGAGATGACTAGAGGATTAATTTCCAGAAAAGGGAGGAGAAAGGGTCTCCAGACTGCCATGACAAACACCACAGACTGGGTGGCTTAAACAATATAAGTTTATTTTTTCGCAGTACTGGAGGCTAGAAATTCATGATCAAGGTGCAAAGTGCTGTCAGGGTTGGTTTCTAGTAAGGGTTCTCCTCCTGGCTTCTCCTCTTGGCTGCCTTTTCACTATGTCCTCACATGGCCTTTCTTTTGTGTACTGGAGGAAACAGTTCTCTGGTGTCTCTCACACGTCTTATAAGGACACCTAAGGATACCAGCTCTACCATATCAAGCCCTCACCCTTATGACTGCACTTAACCTTAATTACTAATTTGTAGGCCTATCCCCAAATACACTCACATTGGAGATTAGGGCTTTAACATATGAATTTGGGGCCACCAACTCAATTAATAATATATACCATAGTTGTAAGGTTTCTGTATCGGTTTGAACCCCGAGAGCACGTCAATAGACAACACGAGGTGGTGTGGAGCAACATGCTGTTTTAATGAGCGCCTGGGTGCAGGCGGGCTGAGGCCTAAAATGGCATCAGCACCAAGTGAGGACAAGACAAAGGTTTTATAGTCTCCTGTAAACAGGAAGTGTTCTAGTCTGACATAACTGCTGCGTTGTACCTGGATGGCCTCTTTCTCGATCTTCAGGGTTACGTGTCTTCCGGCCAGGGTAGCTGTCTTTCGGTCGGCTCTCTTCCTGCTTCTGATATCTTGCTGGCGCACGCCGCTGACGTAAGTAGCCTTGCGCCTTCGTACTGGGCCTGAGAAGGAAGGAGTTATTCATCTCCTTAAGCTTTCAGGCCTCAGGGAGAATCGTACATTCCCGTCTATTTGGTTGTAGATAAAAGGGATAAGGGGCCTCTTTCTCAATAACTACTTCACGTGTGATATAGGGGGTGGTGTGGGCACCTTGGAAAAACAAAACCTTAATTTTTTGGGTATTCTTGAGAGACGGGTTGGTATCCACATTGTCCTTGTAGTAGGAGCATCATCTGTATTGTCTGGAAACGCGTCTGTGCCTGCAAGACAGTTATGTTGAGAGGACAAGGAGGTGTCAACAGGGAGAGGTATAGCCTCATTTGCTGCTTCACGAATGAAAGACTGTGTCTGGATTAAGGAGGGGAGGTAATTTCTGAGTGGGTTAGAGTTTGGTAAGGGTGGAGGCCCTAAGATAAAAGTTCGGCCATACATGATTTTAAAGGGACTATAAAAAGAGGCTGCTTTTGGTGTTGTGTGGAGTCTCATGAGGGCAAAAGGGAGATTTTTTGTCCACGACTGGTGGGTTTTTAGAGCCAGCTTCGTGAGTTGCGCTTTAAGTACAGATTTAGTTTTTTCAACTTTGCCTGAAGATTGAGGCCTGTAGGGTGTGTGGGGAACCTACTTCATATTTAGAGATGTAGAGACACCTTGAATAATTTGGCTGATGAAGGCCGGCCTGTTATTGGGCTGGATGGATGTTCAGAGTACGAAATGGGGAATTATATGCATGATGAGAGTTTGTGTGACGACATTTGCACCTTCTGAAGTTGTTGGGAACATTTTTACTTACCTGGAGAAAGTATGGACAAAGACTAGAAGATAGCAGAGCGGCATGTGAGTGAGGTTTACTTGCCATTCTTGCCTTGGTACCTGGCCCCAGGCTTGGTCGGTAGGAAAAGGTAGCGGCCAGAGGGAGCCTTGGGGTGACACTGAGTGGCAGATAGAGCCAGACTGGGTAATTTCTCAGACATGGCTGGAAAGGTGAGGACAAGTGAGAATAGGGTGGAAAAGTTGCAAGAGAGGTTTGTAACCGACATGGAAAGAGTTGTGGAGTCTTTGGAGGTGAGGAAGATTTTGAGAGTGAGGAAGAACAAAGCACCTTTCCTTGACATACCATGGTCCTTGCTTTTGAAGGTTTTGGGCTCAGAAGTCCTGCTTTTCTTCTGAGGAGTAAAGAGGAGAGAACAAGGACAGGGAGAGAAACTGGCCTTGCACGGATCATAGGGCTATTTGTTTCACTACCTGATCTGTTAGCGCATTTCCAGCCGATATGTGATTGTCTGGGGTTTGGTGGCCCCTGCAATGAATGATGGCAACTTTCTGCAGGAGCCTGATAGCTTGAAGGAGTTTGTTGATGAGAGAGCCATTTATGACAGGAGTGTTTTTTGCAGCTAGGAAACCCCGTTTTTTCCAGGTAGACGAGTGTGACTGTACTATATGGAACGTATAATGAATGACAAATTGAATATATGTTAATTTGTTGTCCGGCTGTCAGTGTGAGAGCTTGAGTGAGGGCAATGAGTTCAGCTTTTGGGAGGTAGTGCCTAGGGGCAGTGGATTGGCTTCAATAGTATGTGGGGGCGGGGGGCGGGGGACACTATAGCATAGCCAGCATGCCGGCGTCCTTGCTGTAAGAAGGAGCTGCCGTCTACAAACCAAGTAAAGAAGGGGTTCATCTGTTAGATTTGGAAAAGGTATAAGAAAGGTTTGAACAGTGTTCACACAGAAGTGTTTAGGGTCTTTGGCGGTTGTAGCTTCAGGTAAGAGCATGGCTGGGTTTAGATGGGAGCTGGTTAGCATAGTGATTTGGGGGGTTTCTATGAATAGAGCATACAGTTGGAGGAGTCATGGGGCAGAGATGAGACTAGTACACTGCAGTGAGTTGGCATGTCTTTGATGTTATGGGTTGAATAAACTGTTAGGTTGGCATGGAGAGATAGTTTTAGGCTTTTAAGGGTTAGGACAGCAGCTGCCGCCAATGGTCGGAGGCAGGCAGGCCATCCAAGAACTGAGGCTTTAAGCTGTTTAGAGAGGTAGGCAATAACCTGAAGGGTGGGTCCTTTAGACTGGGTTAGAACACCTAGTGTAACTCTATGCTGTTGGTCAGTATAGAGGGAGAAAGGTTTGGTGAGGTCTGGGAGAGTGAGGACAGGGCTGAGGTGAGAGCCTTCCAGAGTAGACGGAAAGGTTGGGTAATAGGCTGTGCAGATTTTTAAGGCTCATGGAGTGGGGCTTTAGCAGCTTGGTATAATGGTTTGGCAAGTAGAGCGAAGGAGGGAACCTAGAGCCTAAAACATCCCACTAATCCTAGAAAAGAGAGAGAATTTTTTGCTTAGTTTGCAGAGGCAGGAGGGATTGGAGGAGAGATATGCAGTCAGCTGTGAGCCCTTGGGTTCACGGGGTAAGAGCTAGCCCTAGATAGGTGACTAAGGGGGTGCATAATTGTGCTTTCTTAGAGGAGACCTAATACCCTCGTTTTGTCAAGAAGTTTAAAAGAGAGAGATAGTGTGGGTGTTGCAGTGTTTTTGAGAGGGGCTACACAGGAGCAGATTATTAACACATTGAAGGAGAGTGGATGGTTTTAGGGATAGGGTACTGAGGTCAAGAGCAAGGGCCTGTCCAAAAAGATGGGGGCTGTCTCTGAAACCTTGAGGTAGTATGCACCAGGTGAGCTGATGTGAAAGTTTGGAGTTGGGGTTTTCCCATGTAAAGGCAAAGAGGTTTTGGGAATCAAGGTGTAAAGGAATTGTGGGGAAAAAAAAGCATCTTTTAGGTTTAGAACAGAAAAATGGGTGGTATTAGACAGAATTACGGAAAGTAAAGTATATGGGTTAGGAACTACTAGACATACTGGGAGTACAGCTTGGTTAATGAGCCTGAGGTCCTGGATTAAGCGATAAGTTTCATCTGGCTTTTTGACAGGTAGAACTGGTTTGTTAAAAGGGGAGTTTGTTGGGTGGAGTAGGCGACTGGTGAGGAGGCGAAAATGATAGGCTTTAGGCCTATGCGAGTTGCTTGGGAGATGGGATACTGCTTCTGTGATAGGAACTGGGTGGGCTTTTTAAGGGCAATGTGGATGGGGGTGTGGTGTTTTGTGACTGAGGGTGTGGAAGTGTCCTAAACAGAGGGGTTAACTACGGATGGGGGATAAGGAAAAGTTGCATGTTTTAAGGTGGCAGGTTGGAGGAGTAGAAGAAAGTTAGAAGCCCCAGAGGGGTCTGGGTTGGTGCGTTGGGTACTATGGGGAACATGGAAGTGAAGAGTAGTGTGGAGCTTTGAAAGGAGTGGAGTTTGGCATGAGGGTAGGACTAAGAAAGTGAGTGAAGGAAAAGGTGTATAGGGAGCAGAAAAGTGGAGGGGTGGCTTGGGGTTTGGAGACTTGTCTATTAATTTCTACAATAGAGACTTGGGAGAACTCAGTGGGTCCTGAAAAATTAGGTAAAGCAGTGTAGGTTGCCCTGGTATTAATTAAAAAACATACTGGCCTACCTGCCACCATCAGGGTTACCCTTGGCTCGGATGAAGAGATGGTAGTTGCCAGGGTGTCCATTTCAGGGCACCGTCACTCTTCAGTGGCAAGGCCGATGAGATCCTAATAGGAGGTTTTGGCCAGCTTCGGAAGGGATGGGGGCGGTCCTTGTGGGGTCCGCTGACAGTCCAACCTCCGGTGGGGTCCTCCGCAAAGGGGGCATGGCCTGGTGGGCTTACCTGGGTTTGGGCATTGTCTGGACCAGTAGCCTTCATTGCCACACTTGAAACAGGCGCCAGGTGGAGGTGGATTGCTAGGAGGCTTCCCTGTTGAGCTGCAGCCCTGCGGGCCTGGTGGAGGTAAGCATTTGAGACTACCTGTGTTTTGCCTTTCATTTTCCTCATCACGATTGTTAAAGACTTTGAAGGCTAAATTAAGAAGGTCTCCATGTGGGGTTTGAGGGCCGTCATCAAGCTTCTGAAGTTTGCGTGGAATATTGGGGGTGGACTGGGAGGTGAACCAAAGGTTTAAGATAGTGGTTCCTTTTCAGCTGGCTGAGTTTAGGTTGGTGTATTTTCTTATGACTTCAGTTAAACAAGAGAGAAAAAGGGCTGGTTTTCGTCAGGACCCTGGGTGATTTCTGAAAGTTTTTCATAGTTTACTACTCTATGGGCACCCTTTTTGAGTCCTGCAAGGAGACACACAATCATGTGGTCTTGATGGTGGCATCCAGAGGCCCCATCTTGATAATACCAGTGGGGGTCCTGATTGGGAACTGCCTCTGCGCCAGTAGGCTGGGCAGGAGTTTGGTGATGAATTGTATCAGCCTGCGCCTGAGCTAGGGTCCAGATATGGTCTTAGTCTTCTGGGGTGAGGGTGGAAGAGAATAATGTAGAGGTCATGCCAGGTTAGTTTATAAGACTGGGTAAGGTACTGAAACTCCCTAATATAAGAGGTGGGGTCTTCTGGAAATGAACCGAGTCTTTTGTTAATTTGAGACAGATCAGTGAGGGAGAAGGGAACATGAACTCTAGTAATACCTTCAGTTCCTGCTACTTCCTGAAGTAAGGGTGGGTCATAGGCTAAAGATGGCATCTGAAGGAGTATGGGCCGGAGGGAAGGAAAAAGCCGGAAGTGGTTCCTGCTGAGGGTATGAAGGGGGAAGGGAGTTGAGTTGATAAGCAGTGGAGGATACATACGGGCGTAAGGTGGCAGGATGGGTTTATAGGCTTCAGGAGAGGGCGATGAGGAAGGAGAATGAGTACAGGCAATGCTAGAATTGTCCTGATGGGACGGTGTAGGAAAAGAAGTGGATACAGCTGACTGGGAAGGTGGTGGCTGAGAAGATGATGACTGAGAAGACAACGAACGGGTTAAAGAAGGCGATTGAGAGAAAGAGGTAGTGGCTGGGAGGCATGGACAGCAGTCTGCTGGATTGAATGAGGAAAAAGAGGTAGGGTTGGGAGGAGAAAGGTGATCTGGATAGCAAGAATGGAAGAGAAGGATTTGAACAGGTAAACAAGAATTGTAGAGGTCGGGCTGTGATCTGAGTGCAAAAAACGCCTGGACATACAGAATTTCTCCCCATTTCTCCAGTCATTGGCAATAATTGCTTAAGTTCGTTAAAATTATAAAGTCAAATGTTTTATTTGAGGGCCATTTAGATGCATTGTTTAATTTGTACTGCATCCAGGCTATATTGTAAAAAAAGACGGGGCACTTAGGGTGGATATCTTGTCTGAGGCCTAAGGTTTGCAGGGTTCTTTTATGAGGCAGCCTAGAGGGCTGTTTTTTGGAATAGAGGACCAAGAATTTCCCATAACGGAGGGTAGGCATGGGAGAACAGAGAAAAAGGAGACCGTCCTGGACAGCTGGAGGGAGACGATAAAAGGAGTGATCGTCACTGCTGCCTTTTTCGTTCCCGGAATGGGATCAGTTGGCTTAGAGGTGTCCCCTAAGAACAGATGATCAGCAACTGCCTGGCACACACCAGAGCCTTCTTGGACCAACGCTGGATTTTTGGACCGGAGAAACCAAGAGAGGCCATGTAGATTTTTCCCTGTTGACAGAGCTCCCAGGAAACTTACTGGTAGGTGAGATCAGTGACTAATGTGCATGCAGAGGGGTGACTGGAGGCTGAGGAGTTTCCTTTGTCTGGCTGCTGTGGCCTACTCTCTGGGGTGGAGGGGTAGGCCCAAGGAGGACGCAGACTTGAGCCCCTCCCAGGTTTTGGCACCAGAACGTAAAATTTTTGTATTGGTTTGAAACCCAAGAGCGCAACAGACAAGATGAGGTGGTGTGGAGCAACATGCTGTTTTAATGAGCGCCTGGGTGCAGGTGGGCTGAGGCTGAAAATGGCATCAGCACCAAGTGAGGACGGGATAAAGGTTTTATAGTCTCCTGTAAACAGGAAGTGTTCTAGTCTGTCGTAACTGCTATGTTGTACCTGGATGGCCTCTTTCTCGATCTTCAGGAGTATGTGTCTTCCAACCAGGGTAGCTATCTTCTGGCCAGCTCTCTTCCTGCTTCTGCTATTTTGCTGGTGTACCCTGCTGATATATGTGGCCTTGCACCTTGGTACTGGGCCTGAGAAGGGAGGAGTTACTCATCTTAAACTTTCAGGCCCCAGGAAGAATCTTACAATAGTGAAAAAAAAAGCATTAAATAAATGTTTATCCACTTGCACTCTTATTTAGCTACCAGTCCCCACACAGGAGGCTGGACAAGTCTACTCTGTTATCTGCACAACCTAAAGAGTCTGACATGAGGGCATTTCCCAGCACGATGGGCAAATGGGATCACCTTACAACAAACCCCATCACGTGCAGAACACACTGTTAAAAAAAAAAATCATGAGCCAAACTAAATTTAACGGAGTTTAATTGAGCAAAGAACAAATCATGAGTCAGGCAGCCTCTCAAGCCAGAGTAGGTTCACAGACTCCAGCACAGGCATGTGGTTGGAAGATTTGTGGACAGAGAAAGTAAAGTGATGTACAGAAAATGGAAGTGAGGTACAGAAACAGCCTGATTGGGTACAGCCCAGCATTTACCTTAATTTAACATGGTTTGAACAGTTGGTCTCCTTTGATTGGCCAAAATGTGGTGATTAGCACAAGAGTAGGTTACAGTCTGCTTATGCCTCCATTTAGGTAACAGTTCATGATTTTCAGAGAAAGCTTTAGGCTGGACTTAAAATATGTAAGGAGGCAAGTTTAGGCTAAAGTTAATTTAACAATCTCCCTTTTTGGTCATCTTCTCAATTTTGAGAGATTGACCAAAACTTTAGTCATTGATGTAACTATCACCATCATAAATGTCCTTATTTGGTTTCAAAACCCACCGGAAAATAGCATAATAGTGGATTTTGTAAGATAGGAACAAGGACTTCGGTAATTTTTTTTTACGGGTTAGAGTAGAGGGTACCTCCTCATGCTGGAATATCCTGTTTACAGGAGAAAAACAAAACCTAGTCTGTTCTAGGATATATCTGTTTCCTTGAAGTCTTATTTTTTATTATGTCACATTTATCATAAGTGACTGCTTTTTGGTTTGGTCTGGTCTGTGGGGTCCTAGTGCATGAGCTCACTCCAAAACAGTATCCTCCCATAATTTTGTTTAAATCTGTTAAAAGAAAATCCTTAACCAAATTAAATTTATCCGAGTATAATTGAGCAAAGAACGATTGACAAATTGGGCTGCCTCCCAAGCCATAATAGACTCAGAGATACTCCACCGCAGCCACGTGGTGGAAGAAGATTTATGGACAGAAAAAGGAAAGTGACATACAGAGAAGGGAAGTGAGGTACAGAAACAGCCAGGTTGTTTACAGCTCAGCATTTGCCTTATTTGAGCAGGGTTTGAACAGTTTCTCTTCTTTGGCCAAAATGCGGTGATTAGCACTGGAGCAGGTTACAGTTTGTTTACATCTCCATTTAGGTTATAGTTCACTATGCACAGAGAAACCTTTAAGCCAAACTTGAAATATGTAAGTAGATAGCTTTAGGCTAAACTTGATTCAACAACACTCATGTTTATTATACCCAAATTACAAAACTTTTCATGAAAATCTATTTTTATACATCCATGTTGTGTGGAAAATTTTTTAAAAAAAGAAAAAAGAAATCTGTTTTTAGTTTATGACCATATGAATATGTTAACCTATTAAATTTTTTTTAATAACTTTATAGGGGGCCAGGCATAGTGGCTCACACCTGTAGTTCCAACACTGAGAGGCCAAAGCGAGAGGATCACTTAAGCCCAGGAGTTCAAGACCAGTTGAGGCAAAATAGTGAGACCCCGTCTCTACAAAATAAATAAATAAATAAATAAGTAAAATAAATAAGAGAAGAAAGAAAAATTAGTGGGGTGTGGGTGGCTCATACCTGTAGTTTGAGCTACTTTTTAGGCTGAGGCAGGAGCTCAGGAGGTGGAGGCTGCAATGAGCCATGATTGCACCATTGTACTCCAGCCTGGGTGACAGACTAAGACCCTGTCTCAAACAAAACAAAACAAAACAAACCCCTCAAACCTCAATAGAAGAGTTGTAAACAAAAGCAAACTCAAGTTCCTACCAATTATTATTAATCATTACATTATACAAATTTCTATTGGTTTTGTGCGACTATGTTGTAGATCAGAATATCAACTTCTAGTTTAAGATAACAGATTGAGTCTGAGAGTGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCTGAAGCGGGCAGATCACAAGGTCAGGAGTTCGAGACCAGCCTTACCAACATGGTGAAACGCTGTCTCTACTAAAAATACAAAAATTAGCCGGGCATTGTGGCACGTGTCTGAAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCTGGGAGGTGGAGGTTGCAGTGAGCTGAGATTGTGCCACTGCACTCCAGCCTGGTGACAGAGCGAGACTCCATCTCACAAAAAAAAAAAAAAAAAAAAGAAAAAAGAAAAAGAAAAGATAACAGATTGAGTACAGACCGAAAATTCTCCGTTCTATGACAAATACCGAGGAGTGACTGAAAAAAAAATTAACAAACATATAGCAACAGTTAAAAATAAGTAAATAGAAATCTGCATAGACCAGAAATTTACAACTATTATTGAAGAAAAGAACAGTAAGAAACCAGAAAGTAGTATTTTGGGGGCAGCTCACGTGGAGTCAGGCTCAGTGTAGGACTTGAGTGAAAGACTTTCCCAAGAAGCCCCAGGGCTAATCTGGGCAGCCCTGGATGCTTAGGTCTGGAACCCAGGGCCAGAATCTTTGACAGCCAGATCCAGTAAAGGCCAAAACCAAGAATCTCCTCCCACACCAGTGGATTCTCAAAACACAGTGCACTTGATCAGGCTGTCAGAATTACCTAGAGCAGTGCATATTCTGATGGAGAGAATTCTCTGAACAATCCTGAATTGCATTTAAAAGTGTGCGAAATATTTGTGTAATAAATCCTTCGTTTGTGTTCATTTGTTAGAAGCCAATTCTAAACATTCAAATATTCTAATATGTAAACAAAAAAACTGGAAAAAGAATTTGCATTTAATTTGACCGGAGAATATGTGCTTCTCTTAGCTGTGAATTTTTTTTCACTTTATTCAGTTTGCTTTCAGAACATAAACTGCATTCTAATCCTGTTATTTTGTTCTTAATATTTATCATCCTCTAAAGAGAAGTTAGAATGTTTATATAGAAGCCAGGGAAGTGGTAAAGTGATATTATTCAGTGAGATTTATTTATGAAGCCAATAAATCCTGCAAAAAGATGTCCTTTGACCATTTAAAAGTTTACAGCTCTATTGCAACTTATTAAATGTCCAAGAGCCTTGTTGACACATAAATACATGTATGACACATAAAGATCACTGAAATTTCAAACCTGTCACCTTTCATTATTGTTACTAAGGAAAAACAAAAAATAAGAGAAAGACTATAAATATTCAGTCTTGTTTAGAAAACTAAAGGGATTAAGCTTATTTTAAATTTTTAAAAGAAAATTTGTCAACCATAGCTGTAGGGGTTTTCTGCCTGTCTTTGAAAAACCACACAGTAATATAATTTATATTCTGGCCCACAAGACTGCCGCCACTTCAGATGCCAGTCAAAAATCCTAGAAACCACCCTTACTTTAGACGCACCAGCTGTAAATTCAGGGATTTCCACAGTGCCCTTTGCAGGCTCCATAATTTGCTAGAGCAATTTCAGAACTTTACTTTCACTTTACTTTATGTTTGCCAGTTTACTATAAAGATACAACTCAGAAACAGCCAATGGAAGAGATGCATAGGGCATGGAAATGAGGGAGCTTCCATGCCTTCTCTGAGCCTGCCACTCTCTTGGTACTTAAATGTGTTCATCAGCCCAGAACCTCTCTGAGTCTTACTGTTTTTATAAAGCTCAATCCCAGCCCTCCTCTCCCTCTGGGAGGTCAGTGGGTAGAGCTAAAAGTTTCACCTCTACTCCCTCTGATCACTTGGTCTTTTTGATGGGCAGCCCCCCATAGTGAGATGTCTCTCAGGGCCCCAACTTAAGTCACTTTATTAGCATCAACTCTCCTGTGATCTAAGGGAGCTTGTTATGAATAACAAAAAATACTTTTACCACTTGGAATATCCAAGGGTTTTAGCAGCCCTGTACCCTGAACTGAGAACAAAAACCAAATATTTCTTGTTATAACACACCTATGGGACAAAATTCATTTAGTTTTCTACATTTTTGTCTTTGAATGCTGCATTAGTTAAATTAGATGTGTTTGGTCCCAAAATATAATGTGGGATATAGAAGATAACAATTATTTCTTAAAATGGGCAAAGTGAGTTTTGTAGACCTGAAACTTCGTAAAGAAAATATTTATAACTTTCCCAAAGCCTCAAACCTTATATGACAAATGCATTGTCACATTTTATTTGAAGTCTTTTCAGTGGTCTGGGTTGTAAATCAGAGTTAGGAAGGGTGTGATAGCTCCTATGGTTAGGGAGTTTAGAGCCACAGGAATTTAAGAGATTTGCCATGCTGAATGGGCCCTGAACCCACGACCTGACCCGTAGGTAATTTAGTTTCCTAAACCATTGGATCCATCTTTATCGATAAAGGAGCATCTGTTTCGGTCTTTCAGATCATACTATTAGCTCCAAAATTTTTTAACTTCCAAAATTAAATACATATTAGTCAGAGAAATGGTCCTTACTTAAGTCAAATTGAAAAAATGAATAAACGAGGCACAGTGGCTCACGCCTGTAATCCCAACACTTTGGGAAGGTAAGGAAGGAGAATTTCTTGAGCCCAGGAGTTCAAGACCAGTCTGGGCAACATGGTGAAACTCCGCCTCTGCAAGAAATACAGATATACAAAAATTACCCAGGCATGGTGGTACATTCCTGTAGTCCCAGCTATTCGAAAGGCTGAGGTGAGAGAGTTGCTGGAACCTGGGAGTTTGAGGCTACAGTGAGCCATGATCATGCTGCTGCACTACATCCTGGGTGACAGAAAAAAAAAAAAAAGAAAAAAAAAAAAGAAAAATGTGTAACTTCACTCAAATAGACTCTTTTAGAATGTGTTTTTTTGTGTGTGTTCATTTTGTTTGCAAACCCCATGCAGCTTCCCGTTTTGCCTTGGTTACTAAGAAGTTCTGAGAAAAATTTGATCAAGTTTGAAGTAACAAAAATATTTAATAAATTCTAATTTGTTTCTCATCTGCATTTATTGTGTTGCTACTTTCTATCATTCTTCCTCAAATAGTTTTGTATTACAATTTATCTGAAACCCTCTTTGGAAGTAAGTGTGGTTTAAATGATGAAATAATTAAAATAATTTTGTAGTAACTGCAGTAAAGAGTAGCAAAGGCCAAATTTATTTTTTCTACTTGCTAGGGTTACTAGCAGCAAATCCATATGGGTCTGCAGCAACCTCGGTTTTTGCCTCTTTAGAAGAAATAATTCAACTGAGGGGCGTAAGGCAGGAGAGATCAAGGCAAATTTTAGAGCAGGAGTGAAAGTTTATTAAAAAGTTTTAGAGCAGGAATGAAAAGAAGTAAAGTATACTTGAAAGGGCCAAGTGGGCAACTTGAGAGATCAAGTGCATGGTTTGACCTTTGACTTTGGGTTTTGTATTTTGGCATGCTTCTGGAGGCTTGTGTCCCTTCTCCCCTGATTCTTCCCTTGGGATGGGCTGTCCTCATGCACATTGGCCTGGTAGCACTTGGGAGGGGCTGCATGTGCAGTGTGTTTACTGGAGATATGTGCATACTCACTTGAGGCATTCTTCCCTTACCAGCTGAATGTCCCTAGAAGGTCACATAAGAGACATTAAAAATTGGCCATTTTGCCTCTTAATGTACATGCTTGAGCCCACTCACCCAAATCCTGAGATATTGGGAAACTGCTGATCACGAGTTTCAGGTTTTTTTCTATCTTTTGGGAGACTGTCTTTCCCTGGCACTGGCTGCAACCAATTATTATTTTAGAGAGACAGTTAACAACTGCCTGACCATCACCTGACATTCCTGGTGATGGGAAGGAGATGCCTGCCCTGCTCATGTCTGCCTGACTACCTACTGTAACACCAGGTTGTCTAAATGTGCCATGAGCAAACAGACAAGTTGTATATTTTGGGTCGTGATTGAGTCTTCCAGGTTCTTAAAACCACAGCCTTTAATTTACCATAAAAAATTTTAAAAAGAAGTTACCAGGAGGATAATAAAAATTATTATGTGTACAAATTGATAGTGTGGATAGAGAAGAGAAAGAAATAATAACCATATTTATTCATAGAAGTAGAAAAAATTCAATTTCAGATGAGAAGAAAAACTGTTAATGAAACATTTTATAGAGAGCCAATAATTCTTCAAAACATGGAATAACTTTCCCTTATAATTAATGTCATATTATCAAGATGGTAGAAATAAAATTGCTGAAGAATATTATTAATATTATTATTAAGCTTACTTCTCCCTGGATAGATAAAAATCACACAGCGTTAGCTACATGCATTCAAGGTTATAAAAATGGTGTAATGTGAACATAAATTTGCTTTATGAAATCCGTGGCTGACCCTCAGAGAAGCAATAATCCCTGGAAGCTATCCCCCCACAGCTGCAGACCCTCAGTCATGTACCAGCCACCTCTAAAGGCTGCTGAAATTTGTTACTTGAAAAATGGAATGTAAAGTTCTTGGACTTAGCCTAATTACAAACCTTACAGCCAAATCCACAATAACATTTGCATCTGCTTAATAAAATATACAGAACATTGTATGGCAGTTATGAGACCCGTAATGAACCCTCTTATCCAATGGTAAACAGCTTGGGGCCTTGTCATCCCCACTTTGCAAGAGATTTGAAATTATGTTAGGATTAAAAAGACACAGAGGGAAGTTGGTTAAGATCCTCAGTCTCAAGTCAAATACACAGAGTATTTTCTGTAAACAATGCTTTAACCCTGAAAGAACATTCTTATTTTATTTTTCTTCTACAAGACTTTTGGTCAGTTAGTTCATCTCTTTGCACATCAGTTTCCTCGTTATGAAATGAAGAGAATTAGAGTAGGTACCTTATTGAGTTGCTATGCATGCTGAAATAATACAAGTCACATAATTAGAAGTGCTGAAATACTTAATGGATCCATAAACATTAGCTTGCCAGTCTTTGAGACCAGAATGCAGTTGCTTGCATTTAACTAAGTTTTATCTTCTGGTAAAGCAAAAATATGATGTTCAATAAATAAATAAACAAGGAATAAATAAGCAGAGAAGCACTCTTTGGATTAGAGCACTGGCTCACACTCATCTCAGAAGTGATTTAAATCTTGACATTTATTGCAGTGAGTCATAGATGATCTGATAAAGTAAAGATCCTTTCAAAACCTGCTAAGCTCTCCAGAAGCATTTTAAAAATTTTGCCCCAACATAACTGGAGCTCTTGATGTTTCCACATTAATTCAAAATAATTAGGAAAAAGTAAAGGAATGAAGAAAAACAACTTGAATAAACTTTGGTTAACTTTTAAAAAAAAAAGATTGTTAGTGAAATGATGATATTGAAACATCTTAGGACAATATTGGTTTCAGAAATCTAATTTGAACCAAAAAAGATAGGCCAATTAGGTAAATAATCTTTTGAAAATACAGACATACCTCAAAGATATTGTGGCTTGGTTCCAGGTTGCTGCAGTAATGCAAATATTGTAATCAAGTGAATCACACACATTTTTGGTTAAACAGTACATACAAAAGTTATGTTTACACTATACTGTAGTCTATTAAGTATGCAATAGCATTGCATCTAAAAAGCAATGTGGATACCTTAATTAAAAAAATACTTTATTGCTAAATAATGCTAACAATCATCTGAACCTTCAGTGAGCTGTAATCTTTTTGCTGATGTGGGTTGTCTTGCCTCTATATTAATGGCTGCTGACCAATTGGGATGGTGTTACCTGAATGCTGGAGTGGCTGTGGCAATTTCTTAAAATAAGATAGCAATCACGTTTGCCATGTTAATTGAGTCTTCCTTTCATGGAAGAAATCTCTGTAGCTTGTGATGCTATTTGATAGTATTTTACTCACAGTAGAACTTTCAAAATTTGAAGCAATCCTCTGAAATCCTGCCACTGCTTTATCAATTAAGTTAATGAAACATTTTAATCCTTTGTTGTCATTTCAACAATGTTCACAGCATCTTCACCATCTTCAAAATCTTAACCATTTTTCTTTGCACTTTCGTAAGAGGCAACCCCTCATCTGTTGAAGTTTTATTATGAGATTGCAACAATTCAGTCACATCTTCAGGCTCCACTTCTAATTCTAGTTCTCTTGCTATTCCACTACATCTGCAATTATTTCCTCCACCTGAAGCCTTGAGCCTATCAGTCATCCATGAGGGTTGGAATAAACTTCCCCAGTTCCTGTTCATGTTGATATTTTGACCTCCTCCCAATAATCATGAATGTTCTTAGTGGCATCTAGAATGGTAGATCCTTTCCAGAAGGTTTTCAACTGACTTTGCAGAGATCCATCAGAGGGATCACTATCTGTGGCAACAATATCCTCACAAAATGCTTTTTTTAATTGTATTTAATTTTTTTTTTTTTGGAAAAGCAGTCTCTATCGCTCAGGCTGGAGTGCCGTGGCACAATCTCGGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGTGATTCTCCTGACTCAAACTCCCAAGTAGCTGGGATTACAGGCATGCACCACCATCCCTGGCTAATTTTTATAATTTTAGTAGAGGTGGGGTTTCACCATGTTGACCAGGCTGGTCCCGAACTCCTGACCTTGGGTGATCCACCCACTTTGGCCTCCCAAAGTGCTAGGATTACAGGCATAAGCCACCCCACACCTGGCCTTTTTTCCAAATTTTTAACTTTAATTTTTGTATTTTGTTTTTTATTTTTATTTTTTATTTTTGAGACAGAGTCTTGCTCTGTCACACAGGCTGGAATACAGTGGTGCAATCAGCTCACTACAGCCTTGATTTCCTGGGCTCTGGCAATTCTCTGGCCTCAGCTTCCCCCGAGTACCTGGGACCACAGGTACAAGCGACCATGCCTGGCTACTTTTTGTATCATTGGTAAAAATGGGGTTTCACCATTTTGCTCAGGCTGGTCTCAAACTCCTGAGCTCATCCAATCCACATGCCTAGGCCTCCCAAAGTGCTGGGATTACCCTGCCCGGCTGCCAAATTTTATTCTTAAAGAATACTACTTGAAAGTCAAAATTACTCCATGATCCATGGACTGCAGAATGGATATTGTGTTAGCAAACTTGAAAAGTTTAATATCCTTGTACATCTCCATCAGAGCTCTTGGGCGACTATGTGCATTGTCAATAAGCACTAAATGTTTTGAAAATATTTCTTTTTCTGAGCATTAGGTCTCAACAGTGAGCTTAACATAGTCAGCAAACCATGCTGTAAATAGGTGGGCTGTTGTCCAGGCTTTGTCGTTTCACTTATAAAGCACAGGAAGAGTAGATTAAGCATAATTCTTAAGAGCCCTATTATTTTTTGAATGGTAAATAAATATTGGCCTAAACTTAAAGTCATTAGCTATGTTAATCCTGAATAAGATTCTGCCTGTCCCTTGAAGGTTTGTAGCTGAGACCTCCTTTCTAGCCATAAAGTCCTAGATAGCATCTTCTTCCAATAGAGGACTCATTCATCTACACTGAAAATCCGTTGTTTAGTGAAGCCTGCATCAATGATCTTAGCTTGATTTTCTGGGTAACTTGCTGCAGATTCTCCATCAGCACTTAACTGTTTCACCTTGTACTTTTTGTATTTCAAATAGCCAACTTGAGACAAGTTTATTAGTAATTTCATGGTACCCTTTTGTGGGCTGATTCTCACCTCACCCTTCCCCAAGCAACTCCTGTGACTAATGTCAAACAATATGTCCTTTTGTTGCTTTTTTCAGCCACCCTTACAGACCCCCAACACAATCAACCTGGAAATGACCTCAGTATGTGTAATCTTAAGTCATCTTGCTAACGCAGACACCTCTGAGGTTCCCAAGAAAACTTCAGTGGAGTTCTCTAAACTGAAACCTTGAGAGAGGAAGATTTTCAAGTAGGAACCAGACAAATTCACTTAAAACTCACCACTACACACCTGTGTCATAGAAGCATTCCATTTTTTCTATTGCAGATGGGATTTCCTCTTCAAGCTTACTGTACTGTGTCTTTTTAAAAAATAGTTGAAGACATCGGAATAAAAGCTAATGTCCCAAACAGCGCTTCCCTGGATATTGCTGTTTCTTTAAAAGCCTTTTTCCCAGCTCTTCTGAGATGGTCCATGACATTGCCTTTCTTGCTCATTACCTTGATCCCTTGAATGGGCCCAAAACTTTGGAATGCAAAAACATTCATTCCATTGACTTGGTTGAGAAAGATGATAGGTCAGGTTTTTTTTCATCTAAAGATTATCCTGGGCATACTTCATTTGGGCCCAAATGAGGGATTATTCCAAAGAAGATTGAAGAAGCAATTACTCCTTCCCCTAGTAATATACTCTTTGGCAATGATTACAGTTTGCATTTCTGCTGATAATGCTGTGTGCTATAATTATATGTAAGTTTATAAGAAACCTGGGGTAAAACCGTGGACTTTCTCCCTTTTGCTGGCATCATCTACAGAAATACCATGGGCATCATGAAAGGCAGTATAGCTATAGGCTGAAAAAAGCAGGGTTCAGTTTGCTGCTGTCATGATGCCCTGTTGAGAGACTGCTCTTCAAAGTTTCTTGTATCATTGGGTCCTCCAAGTCAGGCCTGGGTGCCTCTTTATTTACAAAGAGTAGTTGCCTCTATTTTCTCAATTGAAATGACCAGATTTTTAAGATCTAATAATTGTGTCCACCGAAGAAATCATCAATAAAAGGATCTGCATTTCATGATACACAAGTGCACCTGGACCCTATGCAGGGAGTGGCACTGCTGCACCCTGGTCACTGCCTGGCTCCTATGCTATGTACTCCTCTTCCTGGGACCTATGTCCACCTTGAACTTCTAAGTTTCTTTCCTTAAACCTTATGAGCCAACCTGTGCTAGTTTCACACTTTTCTTTTACATCTTCCTCACCTCTGTCAGGCTTCAAAGAATTGAAGAGAATTGGGGCCTTGCTCTGGTTTAGGCTTTGGCTTAATGGAATGTTGGGGCTGGTTTGATCATCTGACCAGATCACTCAAACTTTCTCCATATCAGCAATAAAGCTTGTATTAGTCTGTTTTTAGCCACTGATGAAGACATACCCAAGACTGGGCAATTTACAAAGGAAAGAAGTTTAATGGAGAACTCATAGTTGCACATAGCTGGGGAAGCCTCATGACAGTGGCAGAAGGTAAGGAGGAGAGAGTCACATCTTATGTGGATGGCGACAGGCAAAGAGATAGCTTGTGTAGGGAAACTCCCCTTTTTTAAACCATCAGATCTCATGAGACTTATTTACTATCAGGAGGACAGCACAGGAAAGACCTGCCCTCTTGATTCAATTACTTCCCACCAGGTCCCTCCCACAACATGTGGGAATTCAAGATGAGATTCGGGTGGGGACACAACCAAACCATATCATTCCACCTTTGGCCCCTCCCAAATCTCATGTCCTCACATTTCAAAACCAGTCATGCCTTTCCAACAGTCCCCCAAAGTCTTAACTCATTCCAGCATTAACTCAAAAGTCCACAGTCCAAAGTCTCATCTGAGACAAGGAAGGTCCCTTCTGCCTATGATCCTGTAAGATAAATGGCAAGTTAATTATTCCTTAAATACAATGGAGGTACAGGCACTGGGTAAATACAGCTGTTCAAAATGGGAGAAATTGGCCAAAACAAAGGGGCTACAGGCCCCATGCAAGTCCAAAATCCAGTGGGGCAGTCAAATCTTAAAGCTCTGAAATGATCTTTGATTCCATGTCTCGCATCTGGGTCATGCTATGCAAGAGGTGGGTTCCCATGTGGTCTTGGGCAGCTCCACCCCTGTGGCTTTGCAGGGTACAGCCTCACTCCCAGCTGCCTTCATGGGCTGGTGTTGAGTATCTGTGGCTTTTCTGGGCGCATGGTGCAAGCTGTCAGTGGATCTACCACTCTGGGGACTGGAGGACAGTGGCCCTCTTCTCACAGCTCCACTAGGTGGTGTCCCAGTAGGTACACTGTGTGGGGGCTGCCACCCCACATTTCCCTTCTGCACTGCCCTAGCAGAGGTTCTCCATGAGGATCCCACCTCTACAGCAAACTTCTGCCTGGACATCCAGGCATTTCCATACATCTTCTGAAATCTAGGCAGAGGTGCCCAAACCTTGACTTCTGTGCACTCACAAGCTCAACACCATGTGGAAGCTGCCAAGGCTTGAGGCTTGCACCCTTTGAAGCCACAGACTGAGCTGTACCTTGGCCCCTTTCATCCATGGCTGGAGTGGCTGGGACTCAGGGCACCAAGTCCCTAGTCTGCACACTGCAGGTGGGCTCTGGGTCCCACCCATGAAACCACTTTTTCCTCCTAGCCCTCTGGGCTTGTGATGGGAGGAGCTGCCATGAAGACCTCTGACATGCCCTGGAGACATTTTCCCCATTGTCTTGGGGATTAACATTCTGCTCCTCGTTACTTATGCAAATTTCTGCAGCTACCTTGAATTTCTTCTCAGAAATTTGGATTTTCTTTTCATCGTGTTGTCAGGCTGCAAATTTTCCACACTCTTATGCTCTGTTTCTCTTTTCAAATGGAATGCCTTTAACAGTACCCAAGTCACATCTTGAATGCTTTGCTGCTTAGAAGTTTCTTCTGCCAGATACCCTAAATAATCCCTCTCAAGTTCAAAGTTCCATAAATTTCTAGGGCAGGGGCAGAATGTCGCCAGTCTCTTTGCTAAAACATAACAAGAGTCACCTTTGCTCCAGTTCCCAACAAGTTCCTCATCTCCATCTGAGACTACCTCAGCCTGGATTTCATTGTCCATATCATTATCAGCATTTTGGTCAAAGCCATTTGACAAGTTTCTAGGAAGTTCCAAACTTTCCCACATTTTCCTGTCTTGTTGTGAACCCTCCAAACCATTCCAACCTCTGCATGTTACCCAGTTCCAAAGTTGCTTCCACATTTTTGGATATCTTTTCAGCAATGTCCCATTCTGCTGGTACTAATTTACTGTATTAGTCTGTTTTCATGCTGCTGATAAAGACATACCTGAGACTGGGCAAATTACAAATGAAAGAGGTTTACCAGAGAACTCACAGTTCCACCTGGCTGGGGAAGCCTCACAATCATGGCAGAAGGCAAGGAGGAGCAAATCACATCTTACATGGATGGCAGGAGGCAAGGAGAGAGCTTGTGTAGGGAAACTCCCATTTTTAAAACCATCAGATCTCATGAGACTTATTCACTATCAGGAGGACAGCACAGGAAAAACCTGCCCCCATGATTACGTCCCGCCAGGTCCCTCCCACAATACATGGGAATTCAAGATGAGATTTGAGTGGGGACACAGCCAAACCATATGAAGGCTGTTGGTCTTTCTTATTGTTGTGTTCACTGAAGTAGCAATTTTAACTTCTTTCAAGAACATTTTCTTTATATTTACAACTTGGCTGTTTGGCACAAGAGACCTAGCTTTCAGCCTACCTCAGCTTTTGACATGTCTGCCTCACTAAGCTTAATCATGTCCAGCTTTTGATTTAAAGTGACAGGCATATGACACTTCCTTTCACTTGAACACCTAAAGGCCATTGTAGGGTTATTGATTGGCTTATTTTCAATGTTGAGTCTCAGGGAACAGGGAGGCTGGAGAAGTGGGAGAGAAATGGGGGAAGGGCTGATCAGTGGAGCAGTCAGAACACACAACATTTATTGATTAAGTTCTCTGTCTTATATGAATGTGGTTTGTAGCATGCCAAAATAATTACAGTATTAACATCAAAGATCATTGATCACGGAAATAATAATAAAGTTTGAAATATTGCAAGAATTATCAAAATGTGATACAGAGACATGAGGTGAGCACATTCTTTTGGAAAAATGGCACTGATAAGATCAGTTGATGGAGGGTTGCCACAGACCTACAGTTTGTTTAACAAACAAACAAACAAACAAAAGGCCAGGTGTGGTGGCCTATGCCTGTAATCCCTTCAGCACTTTGGGAGGCCAAGGCAGGAAGATAGCCTAAGCTCAGGAGTTTGAGACCAGCCTGGACATGGTAAAACCCTGTCTCTACCAAAAATACAAAAAATTAGCTGGATGTCATGTAACAGAGGTAGAAGGATTGTTTGACCTTGGGAGGCAGAGTTTGCAGTGAGCTGTGATCATGCCTCTGTACTCCAACCTGAGTGACAAAATAAGACAAAAAACAATGAAGTGAAGAGCAATGAAACAAAGTATGCCTGTACACTAAAAATCAGTCTGTTGTAGCTATTTGATGTTAAGAACACTAAATTCTTTAGTGCCTTTAGGTCATATTTGTAGTAAACACTTCTGTTAATGTTTTGAAACTTTACTATTTGCACCACCCCCAGTTATAAGTGTACACATTCTTGCATGTTGGACTAACCCTGTCCTTGGACAAAGGTCAGTAGCAGATGAAGATTGCATTTTGTGATGTGCTCAGTTAAGTTTAATTTAAAGTGGTCCATTGTACAATAATGTTTGTATATGTGTACAGAAAAATTGTTCAAATCAGGAAGGGATTATTTACAAAGAATTGGCCCAAGTGTGAGGAGGCCATTGAAAGTGAAATGAGGGAAGCTCTATACCAAGTGTAAGTGTAGTTTAATTCTGCCCAGCACATCTGGAGGGGAACATGTGTGTAGGTGCATCACATTCCCAAGCCAGAAAAATTTTAGGTGATTCAAAATGAACACTGTATTGTTTGGAGAACCAAAATGTCCAGGAATCTGTATCGTGTTTTGTTTGTTTGTTTTGTTTTTTGAGACAGAATCTCCCTCTGTCACCCTGGCTGGAGTGCACTGCTACCTCTCCTGACCCGCCACCTTCCCCAGGCTCAAGCGATTCTCCAACTCAGCCTTCCAAGTAGCTGGGAACACAGGCATGCACCACCACATCCAGCTGTTTTTTGTATTTTTAGTAGAGACAGGGTCTCACCATGTTGCCCAGGCTGGTCTTGAACTCCTGAGCTCAAACCATCCACCTATCTTGGCCTCTCAAAGTGTTGGGATTAGAGATATAAAACCATCATGCCCAGCCTATATCCAAATTTTCTTTTTATTTGTTTTTGTTTGTTTGTTTGTTTTCTTATTTCTTTCTTTGTTTTTGTTTTTGCTTTTTTTTAGATGCAGGTTCCACTCTGTCACCCAGGCTAGAGTGTGGAGTGCACTGGTGCAATTTATAGTTCACTGGAACCTCAAGCACTCTTCCTGTCTCAGCCTCCAGAGTAGCTGGAACTATAGGAGCATGCCACTACACCTGACTAATTTTTAAAAACTGTTTGCAGAGACAGAATCTCACTATGTTGCCCAGGCCCATCTTGAACACTTGGGTTCAAGCATTCCTCCTGCCTCAGCCTACCATTATATCCATTTTAATCAGAATATAATATTTAAGCAAAAATGGAATGTCTGAGCTTCTACAGAAAGCCTCCTTTTTCCTGCCTCTTCCATTTCTTGATTTTATTTGTGATAATTATTTTTTCTTTTATTTTCTCCTCACTTTATTCTTTAAAATGCTTCTCTTTCCACTAATTCTGTATTTTTCTTCATATTACTTTTTCTTTCCTCCTTCCACTCACCCTGCCATTTTTTTTAAATAAATGGTTTTCCAAATAGATGTGTGCAAATAACAGGGAGTCAAGAGTAAGATCAAGTTACTTTAGATAGTGTTTGTTTTAGAAATAGCAGTAAAAATTCACTCTATAATTGTTCTGTGGTCGACAGGTTTATGCAAACCTATCCCCCAAACCGGAGGAAGCTGAAAGGCCCAAGTAAGAGACTGATAAATCCAGTTTCTCAGAAAGAAACATTTAATAGGGAGTGAGAAACAGAAGTCATGATGTCCTGGCAATTGACAACAACAAGATTAGATAGTGAATCCCCCCGTACCATTACCCACCGCGTATGACTTATATGTAAAACATAGGGAAGGATTATGTGGAACAATTGAAGTCAACCTCTCAGGGAACGGCAAGAATGCTATGTGAATCTGCCTAAGGGCAGGATTTATGGTAGCAGCAGTTAAAATAGAAATCTTAAAGGCATTCCCAGAATAAGGGTTACCCAGAAGTCAACATGGCAGATTAACACCCAATATAGAGTTGCTTTAGCCTCCACAATAATGTAGGGAAATAAATATAATGAAGATGGCAGTATTTTTTAAACCATATTTCAAAGAAATCTTCTCTTTGAAACATGGAGAAGAAGGCATATGTCACTATATGCAACATAAGCTTATATTCATATCTATTTAGTATATCCAGGACAAATTTTATTTAGTTCTAGGAATATACAGTGAGATTTTTCTTACTGCCCCTTGACGTTAGATATTATTCACCTTACAGTGATCAGAGATACGTCTTTTAGCATCCACCACTTGTTCATCAACCTTGTCTGTCAAATGGAGAAATCTATGTGGCAAATGCAACAAGAAGTTTTCCTTGACCCAATAAAGATACAGGTCCTTCCTTAAATGGCTATGTTGAAATATAAATTCTTAAATTATATACTTATTTACATGGCTTCTCCCCTCTAGTGAACTTATCCTGGAATCTGTCAATTAGATTTATTCTATGTACTGTCTATTCTTTTAAAATGGGACTCTCTCAGAAATATCCCTCTGGATAAGGTACACATCTCATTTTTCTCAGTGACAGTAAAGGGGCGTAATTTCTATTACACAGGTCTAATTGCCTTGAAGAAACATCATAAGGACTCAAAACATGGAAGGTATTATTATTGTTGTGATTATGCTTTGAATTCTTAAGTAACCAATGTATTCTCTGTCTCTGGATCTGTTTCTAGTGTCAAAACCCTTGTTAGCAGGAATTAGATCAGATTATATTAATAATTATGTAGTGGATATCTTACTTTTGCATATTTTCTCATCAGACAATACACGTCTATATTATCTTTTATCTCAGTGTGTATGAATAAATGTCAGAGCTATTTGGGTCATAATTTGCTATGCGGCTGTTTTGTCTTGTTATATATTTCACTGTAATAACAGTGAGTTATGATTCACAAAGTTTGCCTCCTTTTATAAAAGGTGTATTTTAATTTGATGTTAGAAACAACGAACTTTAAAAATGTAATTGGCCTTAATATCTTTTTAGATTCCTTTGAAGATATACTTAGCACAAAAATATGCTCCTTGGGAATTTGACAATTGAGCTGATAATAGGATATATCATTTTTAGTTTACAGGCAAAAGCAAATGCTTCATTATTTTGTTGTTATTTACTACATCATAAAAGAAATTTAATTTTAGCTAGCTGTGTGCATCTAAGTCCAGATATCATTTGATAAAATGAGTCAAGTGGGAAAACTTCCATTTCTTTGTGATGACACATCAAATATGCCCTTATCTCTAAAGACATTAAGAATGATTGAGTGAAGTCTTCCTACTTTGTTTTTTCAGTATCTTTAGACATAGTACAAACATCTAAATTACGATATGTTTATTTTACAGGAGCCAATGAGAAAGAAATAGCCCTAATGAATGCTTTGACTGTAAATTTACATCTTCTAATGGTAAGTTTTCTTTCCCACTAATGTTTAGAACACATTCATTTACAGAATCTGATGTTTTTCTATCTTTAATTCATGAGCTTCTGGGGGTTTACTTATTTAAAAATAAATTGTGAGGTTATTTTCATTTTTACTAGGAAATGCTGGACCATGATATAATAGCTTCTTCCTAATCATGGAAGAGTTGACTCTTGAGAAGAGCTTTAGAATAATGAACAGTTCTTGTCTGGGAAAATAAAGAATAAGAGCCATAATGGGTAAATAGGCAAACTACATGCAAGCCTACAAAACAGTGATGTACAATGCTAGCAAAGCACTGACCTTTTTGGAAAGACAATTTTCTAATGGCTTCAGCAGAGTGAGTTAGTGGATCAGTATACTTTTGTATATTAATATAGGTTAAAAAAGACTTGGAGTATTAAATTTTTAAAAAGAGGTCTAGTACCTTAAATGAGTTAATGTGTTTAAAGTACTTCTTACATCTTACTCAATAAACAGTTTTACCTTAAAGTGTCAAATCTATTATCTATTAGGGATATTGTGTTAATGGTGACTGCCCAATGCTTTAAAGAATCTTGACTTCATTTTTTCAAGTATGTTTTGGAAACATGTCTACAAGTTCAGATATCCCTGGATTTGACTCCCAGCTAAATTACATAATGCTTATTTGAGGTTGAAAAAGGCTTTTGGCATCTCTAAGTCTTAGTATTTTCCTTTGTAAAAATGAGAAACATAATATCTACCTCAAAGATCTGCATGAGAATTAAATGTAATAATATGTGAAAATTGCTTTAGTACCCTGGCCAGTGATCAACACTCAGTTAACAGTAGCTATCATCTTCGTTGTTATTGTTGTCAATATCACTCTCTAGGAACTGTGTGGAGAAATGAAAGAGCTTCACTGAACAAATGAGCTACTATCAATACAAATAAGACATACATAGACCATAATATTTCAGTGTCATGCCATCAAAATTACCATGAAATGCTTTGGGAAGATAATTTGTCAATTAACAGCTTTTTTTGTTGTTAATCATCAGACTTTAAGTTTCATCAATTAATATATAAGTAAAGTTTGAGGATTCGTTATCACATTCACATTTTCCCCCGAGTTTGCTGTTTCATTGATAAGCAAATTGAGCCAATATCTTCTTTCTCTTTGAGATTCACTGGAAACATGGCTAATTGAAAAGGTAGTCCTGACAAACACTTAAGATGTTGAGTTAATTAATGTCTTTAAAATACTGGAGATTATAAAATGATAGTGTGACATAAAATGAACAAATGTATAAATTGTGTATTAATGCTTTCTCAATAAATCCATTTTATTGCAGTTATCATTTTTTAAGCCTACGCCAAAACGATATAAAATTCTTCTAGAAGCCAAAGCCTTCCCTTCTGATCATGTAAGGACTTCTTCAAATTGTATTTATGTTCTTTCTACTCTTCCTAGAGCAGTGTATCATTTGCCTGACTTGAATGTTTACTCACTAGGCTTTTCCAAGCAATCTTACAATAAAAAGATCTGTCAAATGCTTTTGATTAAATTTTTTAATAGATTATAGCTTTATTTCTTTTGTTAAAGTAAAACACGTGTTAAGGGAAGAGAAGATGGAATAGGAACATTGATTTATTAGTCTTTTTAAAGACATTGAGCAAACCACTGCTCTAAATCAAGTGCAGTTATAAATGTTTTATTAATTCTTATTGCTCTTTTATTTTATGAAATCAAATCAATACAAACCCCAGTGCTTAACCCTTTAGCTAAATAGAATAGGAATATAAACTTTTATTTGTCCAGTGTGTTTTCATAGCATGCTAGCATAAATGTTGGCCCATTATTATCAAAATATTATTTATTAGAGATTAAAAATATTTCTTGTGATTTACTAAAAAAAGTCACATTACTTTACTTGATGATGAGTTGTTTATTCTTACTTGATAAGAAATGTAATGGTTTCAGACACAAACACAAATAAAAGTACAATGTAAGTCTGGGCACAGTGGCTCACTCCTGCTATCTCAACACTTCAGGAAACCAAGGCAGGAGGAACACTTGAGCCCAGGAGTCTGAGAACAGCCTGGGCAATATAGTGAGACCTCGTCTCTATAAAGTAAATAATAAATAAATAAATTAATTAATTTTAAAAGTACATTTTATATTTTAGTTTTGGTGTTAGAGAAACTTTATTTCTCTATATTATTGCTGTCTTTTACTCTAGCCCTTGTAATTTTAGGGCAAGTAATTATGTCAAATGGAATAAAACCCTAATATCTTACTAAAATGGATCAAAATCCTAATATCTACAAAAGATTCCAGGTCGGTGTGGGGGCTTATCCACATGCATATCTGGTACTCTTAATGAAGTAAACTTCTTAATGCCTTTTTTTTAGCTAACTTACTCTTCCTAGGGTAAGCCATTTCTATATCCTATGTTCAAGGATGACAAGTCCCTACTATTCATTTTGCTTATTTTGCAAATTCTGGTTTTGACTTAGATTAGATGATTTAATTTCTTATTCTAAAATCTCTTATAATTCCTTAAGTCAAGGAGATCCCTCTGTTTTCATCTATCTCAAAGAATGTTCAGAATTCTATATGTGAATTTTATTAAGTGGTTCTTCTCTGTTGTGTATTTTGTTTAGGTGTTTTAACCTTCACCTTGGATTTAATATAATAATATGCCCTTATTTTTACTTTATTATTTGTTATTTCAATGTACTTCTGTGCTCTCAGCTTGATTTGATAAATACATCATCTTTCCTTTTTAGTATGCTATTGAGTCACAACTACAACTTCACGGACTTAACATTGAAGAAAGTATGCGGATGATAAAGCCAAGAGAGGTATATGAGAAAGAAAGAAATATTTGTCATGCTTTGTTTAGTATTGATTTTTTTCTTCATTTTCCTCAAAAGTTTATTAAAATCTTCATTACTTTAATGGAACTTTCAAGAAAGCATGAAGGACCTATACTTCTGTTACTATTAGATCATTTTGCTTAAAATAGAGAATAACTCAGATGTGTATTTATTTTCATTTTTCAAGGGCTAGCCATATGGCAAGCAAACTATTTTTCTGTTAATACCACTGGATTCTGCCATATTCTTCAATGGGATGGGAAAAGGGTGACAAATTTAGTATATCATTTTCAATTCCAAATGTCATGCCCATGGGTGCCATTAAAATCATGCTAAAGACCAGAATTATTTGTTAAAATGGAATCGTGACTATATTTCATGTCCCCTCTTACTCTAAGTATCAAACATTTTCTTTGTGTTTAGACTAGGATAGTGGAGAAAGGGATGTGGTATAATGGGAAGAGCTTTGGCTTTACAGTCTGGCTAATATTTCCAGTGAAATCTCAGACTCTCCAGTTTACTGGGTATGTGACTTTGGGAAAGTTACTTTATTCTCTGAGACTCCTTTATATTTAAACAGATAACAAAAGCATGTGTCTAATCAGGCTTGACCTAAGATCTAAATGTGTACTTTACATTAATAGAGATAAAAGGCTCACAGACTTTGACATTTAAACCCTGCAGCTTGTGTAATTTGTCACTAGTCGAATCATACAGAATAAATTTTAGGTTTCACATAAGATGCTCCCAGACCGCTAGTCATTGTTTGGACAATTACTTCTTTCAACCCAGAATTACTTTGAATAAATTAAAGATGTACTCTATTCACTTCCATTTGCCAACATACAATAAATTAATGGAATAAAAAGTTCTCACATGAGAGGATATAAATTGAGAGGATATAAATTGTTAATTTCTAGCAAAAATGAACATAGCTGCTAATAATCACATAAGTGACCAATATTGTGGAGTTTCATGAGTTACTCATAATCTTGGGACCACTGTTGAGCATTACCTAGAACAAGTCAACATGAGAGAGGGCCGTATCCTGTCGTTGAAAAATGTATTTCTTATGTGCTTAATACTGATTTTTTAAGATATAAATTAAGTATTAGTATCTATAATATTTTCCTTACCACTTTATTGGAAATTATGGTGGGTAAACCTTATTAGATTGTTTTAAGAATAAAGAGTTTTGGATTGCCAAGTTATCAATTTTACTTACAATTAATGACATTCTTTTCTTTATATAAAGTATACTTCACTTAATAATTCAGATATTTTAATAACAATCCCATTAATATTGGGATGCCAATTTTTATTGATGCCCATTTTGTAAACAAATTCCTGGTTTCTTCTAGTAGAGAGTTTATTTCACACCCACACACATACACACTCACACACACACACACGTACTCTCTTAACATGGAGCAGAGTAATTGGCAAATACCAAGATAATTAAAAATTAAAAGTAAACTATAGGATAATATCTTAATGAGCTTCCCCCAAATATTAACGTAATTAATGATGCATTGACCTCAAAATCATGTCAGACAGCACTGGAGAAAATTCATGGCTGGGTGCAGTGGCTCACGCCTGTAATCCCAGCACTTTGAGAGTTTGAGACAGGCAGATCACGTGAGGCCGGGAGTTCAAGACCAGCCTGACCAACATGGAGAAACCCCATCTCTATTAAAAATACAAAATTAGCCAGATGTGGTGGCACATGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCACTTGAACCTGGGAGGTGGAGGTTGTGGTGAGCCAAGATCGCACCATTGCACTCCAGCCTGGGCAACAAGAGTGAAGCTCCGTCTCAAAAAAAAAAAAAAATTATGAAAACTTCAGAATTGCTAGGATACAGGATACACATAGGTACTTTGTATTTAACTAATTTTTTTCAGCTCAAGTTGTTTGCAAGACCAAATCTAAATTCATTCACAACCTTTAGTAAGTAATCAATTATTAGTTGTAGTGGCAAGATATAAGGAAAAAACCCTCTATTATAGTCAGTTTTATTGATATTTTTCTTCTTGTTTGGGTCTTGAGCTTTAGATTAGTTTGGAGGAGATTTTAATCTTAATCTAATAGAAGATATTGGCTAGGTAAAACTCAGATAAAAGATGTGTAAGTGTTATGTTTTCTTTGGTTTAGTTTAATTTAGTTTAGTTTTTTTCTGAGACAGAGTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGCACTATTCTCGTGCTTCCGCCACCCAAGTAGCTGGGATTACGGGCATGCACCACCACACCTAGCTAATTTTTGTATTTTTAATAAAGACTGAGTTTCACCATGTTGGCCAAGCTGGTCTCAAACTCCTTACCTCAAGTGATCTGCCCACCTTGGCATCCCAAAGTGCCAGGATTACAGGCGTGAGCCACACACCCGGCATGTTTTCTTTTTTTGGAAACAATAACAGGATATCAGATTGATAAATGCAATACCAATTTCTGATAATTTATCTTGCTATATAATACTTCATGGACTTCTTGCACTTTGTGGTGTTTTATTAGTCAGGAATAAGGAGAAAACAACTTATAGCTGTGGAAAGAGTACAAATTAATTTTTAAAAACTGGAGAATAAATCAAGCAATTCGGCTTTTGAAGACTTTCACTTGAAAAAACACTTTTTACTTTTTAATTATCATTTCTTAATAATAAAAATTATGCTCAAATGCTGCTCTTATGCCAGATTTTTAAAGAACCTTAATCTGAAAAAAAAAACTATTTTATAATGCAAAAGGGCTCACGGTGAAATTTAGATCGGCAATATGAAATTACAAATTTATTATTATCGATATGACCTAACTTGTGCCTAACTTGATTTAGGGGGAAGAAACCTTAAGAATAGAGGATATCCTTGAAGTAATTGAGAAGGAAGGAGACTCAATTGCAGTGATCCTGTTCAGTGGGGTGCATTTTTACACTGGACAGCACTTTAATATTCCTGCCATCACAAAAGCTGGACAAGCGAAGGTATGCACGCCATTTACTTCTTCCCACCTTACTCCAAACATCACTCTACTTAAGAGTGTTCTAATTGCATGACTTGTGAAGTACTTTAGCTTGTGTCTGAGTAAAACTATTTCAAAAGTTAAAAAAAAAAAGAGTAAACCTTGGGCCAGGCACGGTGGCTCACGCCTGTAATCCCAGCACTTGGGAGGCTGGAGCAGGGGGATCACGAGGTCAGGAGTTTGAGACCAGCCTGACAAAAATGGCGAAACCCCATCTCTACTGAAAATACAAAAATTAGCTGGGCATGGTGGTGGGCACCTGTAATCCCAGCTATTCGGGAGGCTGAGGCAGAAGAGTCACTTGAACTCGGGCGGTGGAGATTGCAGTGAGCCAAGATCGTGCCCCTGCACTCCAGCCTGGGCAACAGAGCAAGACTCCATCTCAAAAAAAAAAAAGCGAGTAAATCTTACATTTTTAAAAGAAAATCTGTAATCTTTTTTGCTTCAGGCATCTCTATTTAAACTGCTTTTTTTTTTTTTTTTTTTTTTTTGCCACTTCTGTGGTCTCACCTCCTTAGTAGCAGCTGCTCTGTGCATTTGCCTCTAGTCAGCAGGCCAGGCAAGCTGTAGGTGATGCCATTGGTACTCAGCTGGTCAGTCACCAGGAAGCAGACAAAATACTTAAGATAGGAAGTACATGCTAGGTCTATTAAAAATTCAACTCATACTTTGTCATACTATAAATCACTCTATAAATGAGTTTTCACTTAATGCTGAGTATCTAAAGATGAAGAAATGCAGAATTCAATTTTATCAGTAGATCAAATTTTATACAAGTTACTTTAAGGAGGCCATTTTATTCCTAAGACTCTTGAAAATTTTTTATACTGCCTGTAATGAGAGCTTTTTTTCCTACCCACTACTAAATCACAGTTAAATTGTTTT	G	A142877008G	KYNU	NC_000002.12:g.142877008_142961693del	noncoding	Pathogenic
2	143040429	TCTTTAAG	T	T143040431A	KYNU	NM_003937.3(KYNU):c.1045_1051del:p.Phe349fs	coding	Pathogenic
2	144384605	CT	C	T144384617A	ZEB2	NM_014795.4(ZEB2):c.*4845del	noncoding	Benign
2	144389528	T	TGG	A144389531G	ZEB2	NM_014795.4(ZEB2):c.3566_3567dup:p.Met1190fs	coding	Pathogenic
2	144389551	TC	T	C144389552A	ZEB2	NM_014795.4(ZEB2):c.3544del:p.Glu1182fs	coding	Pathogenic
2	144389562	CG	C	G144389563T	ZEB2	NM_014795.4(ZEB2):c.3533del:p.Thr1178fs	coding	Pathogenic
2	144389596	CT	C	T144389599C	ZEB2	NM_014795.4(ZEB2):c.3499del:p.Ser1167fs	coding	Pathogenic
2	144389695	CCATCCCTCGG	C	C144389699A	ZEB2	NM_014795.4(ZEB2):c.3391_3400del:p.Pro1131fs	coding	Pathogenic
2	144389732	AGTACC	CATTA	A144389732C	ZEB2	NM_014795.4(ZEB2):c.3359_3364delinsTAATG:p.Gly1120fs	coding	Pathogenic
2	144389882	G	GC	G144389884C	ZEB2	NM_014795.4(ZEB2):c.3213dup:p.Gln1072fs	coding	Pathogenic
2	144389900	G	GT	G144389902T	ZEB2	NM_014795.4(ZEB2):c.3195dup:p.His1066fs	coding	Pathogenic
2	144389948	AG	A	G144389949T	ZEB2	NM_014795.4(ZEB2):c.3147del:p.Ser1050fs	coding	Pathogenic
2	144390000	AC	A	C144390001A	ZEB2	NM_014795.4(ZEB2):c.3095del:p.Cys1032fs	coding	Pathogenic
2	144390022	CT	C	T144390027C	ZEB2	NM_014795.4(ZEB2):c.3073del:p.Arg1025fs	coding	Pathogenic
2	144396475	CACATGCAT	C	A144396482C	ZEB2	NM_014795.4(ZEB2):c.2996_3003del:p.Met998_Tyr999insTer	coding	Pathogenic
2	144396476	AC	A	C144396477A	ZEB2	NM_014795.4(ZEB2):c.3002del:p.Cys1001fs	coding	Pathogenic
2	144396491	ACT	A	C144396496G	ZEB2	NM_014795.4(ZEB2):c.2982_2983AG[2]:p.Ser996fs	coding	Pathogenic
2	144396517	GAGAC	G	A144396524G	ZEB2	NM_014795.4(ZEB2):c.2958_2961del:p.Ser987fs	coding	Pathogenic
2	144398380	GC	G	C144398382A	ZEB2	NM_014795.4(ZEB2):c.2806del:p.Ala936fs	coding	Pathogenic
2	144398383	A	AT	A144398385T	ZEB2	NM_014795.4(ZEB2):c.2803dup:p.Met935fs	coding	Pathogenic
2	144398429	GC	G	C144398432A	ZEB2	NM_014795.4(ZEB2):c.2757del:p.Leu920fs	coding	Pathogenic
2	144398498	C	CT	G144398500T	ZEB2	NM_014795.4(ZEB2):c.2688dup:p.Ala897fs	coding	Pathogenic
2	144398498	C	CTG	A144398504G	ZEB2	NM_014795.4(ZEB2):c.2685_2686CA[3]:p.Ala897fs	coding	Pathogenic
2	144398508	AGGTTTGG	A	G144398509C	ZEB2	NM_014795.4(ZEB2):c.2672_2678del:p.Ala891fs	coding	Pathogenic
2	144398607	C	CAG	G144398612A	ZEB2	NM_014795.4(ZEB2):c.2576_2577CT[3]:p.Leu860_Asn861insTer	coding	Pathogenic
2	144398685	CT	C	T144398688G	ZEB2	NM_014795.4(ZEB2):c.2501del:p.Lys834fs	coding	Pathogenic
2	144398733	C	CA	G144398736A	ZEB2	NM_014795.4(ZEB2):c.2453dup:p.Leu818fs	coding	Pathogenic
2	144398779	GGAGT	G	A144398781T	ZEB2	NM_014795.4(ZEB2):c.2404_2407del:p.Thr802fs	coding	Pathogenic
2	144398788	G	GA	C144398791A	ZEB2	NM_014795.4(ZEB2):c.2398dup:p.Ser800fs	coding	Pathogenic
2	144398821	GA	G	A144398824G	ZEB2	NM_014795.4(ZEB2):c.2365del:p.Ser789fs	coding	Pathogenic
2	144398849	TC	T	C144398851T	ZEB2	NM_014795.4(ZEB2):c.2337del:p.Ser780fs	coding	Pathogenic
2	144398883	AT	A	T144398885G	ZEB2	NM_014795.4(ZEB2):c.2303del:p.Asn768fs	coding	Pathogenic
2	144398957	TAG	T	G144398959T	ZEB2	NM_014795.4(ZEB2):c.2228_2229del:p.Ser743fs	coding	Pathogenic
2	144398959	GA	G	A144398960T	ZEB2	NM_014795.4(ZEB2):c.2227del:p.Ser743fs	coding	Pathogenic
2	144398972	T	TGGAG	T144398977G	ZEB2	NM_014795.4(ZEB2):c.2211_2214dup:p.Ile739fs	coding	Pathogenic
2	144399006	TAAAG	T	A144399008G	ZEB2	NM_014795.4(ZEB2):c.2177_2180del:p.Ser726fs	coding	Pathogenic
2	144399006	TAA	T	A144399008G	ZEB2	NM_014795.4(ZEB2):c.2179_2180del:p.Leu727fs	coding	Pathogenic
2	144399008	AAG	A	A144399011T	ZEB2	NM_014795.4(ZEB2):c.2177_2178del:p.Ser726fs	coding	Pathogenic
2	144399009	A	AGAGT	C144399014G	ZEB2	NM_014795.4(ZEB2):c.2174_2177dup:p.Leu728fs	coding	Pathogenic
2	144399034	T	TTGGGAGCTAACGGCTTGGAGCTTCTTTCCAGGGATGGGGACCTGGAATTTGAGTACTGGTAGACTTTTCGTTGTTCAAACCATTCCTTCACAAATTCCTGAGGAAGGCCCACAGC	A144399150T	ZEB2	NM_014795.4(ZEB2):c.2038_2152dup:p.Asn718delinsSerCysGlyProSerSerGlyIleCysGluGlyMetValTer	coding	Pathogenic
2	144399125	CA	C	A144399128T	ZEB2	NM_014795.4(ZEB2):c.2061del:p.Phe687fs	coding	Pathogenic
2	144399154	GA	G	A144399157T	ZEB2	NM_014795.4(ZEB2):c.2032del:p.Ser678fs	coding	Pathogenic
2	144399219	CAT	C	A144399220G	ZEB2	NM_014795.4(ZEB2):c.1966_1967del:p.Met656fs	coding	Pathogenic
2	144399242	TG	T	G144399246C	ZEB2	NM_014795.4(ZEB2):c.1944del:p.Ile649fs	coding	Pathogenic
2	144399265	GA	G	A144399268G	ZEB2	NM_014795.4(ZEB2):c.1921del:p.Ser641fs	coding	Pathogenic
2	144399294	AT	A	T144399296A	ZEB2	NM_014795.4(ZEB2):c.1892del:p.Asn631fs	coding	Pathogenic
2	144399302	CA	C	A144399307C	ZEB2	NM_014795.4(ZEB2):c.1884del:p.Phe628fs	coding	Pathogenic
2	144399324	GA	G	A144399325C	ZEB2	NM_014795.4(ZEB2):c.1862del:p.Val621fs	coding	Pathogenic
2	144399362	CTTCA	C	T144399368C	ZEB2	NM_014795.4(ZEB2):c.1817_1820TGAA[1]:p.Asn607fs	coding	Pathogenic
2	144399416	GA	G	A144399420C	ZEB2	NM_014795.4(ZEB2):c.1770del:p.Pro591fs	coding	Pathogenic
2	144399432	GA	G	A144399434C	ZEB2	NM_014795.4(ZEB2):c.1754del:p.Phe585fs	coding	Pathogenic
2	144399499	AT	A	T144399501A	ZEB2	NM_014795.4(ZEB2):c.1687del:p.Leu562_Ile563insTer	coding	Pathogenic
2	144399533	TG	T	G144399534A	ZEB2	NM_014795.4(ZEB2):c.1653del:p.Ser552fs	coding	Pathogenic
2	144399556	G	GT	C144399558T	ZEB2	NM_014795.4(ZEB2):c.1630dup:p.Thr544fs	coding	Pathogenic
2	144399600	CG	C	G144399601T	ZEB2	NM_014795.4(ZEB2):c.1586del:p.Thr529fs	coding	Pathogenic
2	144399616	C	CT	A144399621T	ZEB2	NM_014795.4(ZEB2):c.1570dup:p.Ser524fs	coding	Pathogenic
2	144399630	AT	A	T144399632A	ZEB2	NM_014795.4(ZEB2):c.1556del:p.Asn519fs	coding	Pathogenic
2	144399638	TCACTACCG	T	C144399639G	ZEB2	NM_014795.4(ZEB2):c.1541_1548del:p.Pro514fs	coding	Pathogenic
2	144399645	C	CG	A144399648G	ZEB2	NM_014795.4(ZEB2):c.1541dup:p.Val515fs	coding	Pathogenic
2	144399645	C	CT	G144399646T	ZEB2	NM_014795.4(ZEB2):c.1541_1542insA:p.Val515fs	coding	Pathogenic
2	144399649	AG	A	G144399650A	ZEB2	NM_014795.4(ZEB2):c.1537del:p.Leu513fs	coding	Pathogenic
2	144399760	A	AT	G144399767T	ZEB2	NM_014795.4(ZEB2):c.1426dup:p.Met476fs	coding	Pathogenic
2	144399766	TGCCTG	T	C144399768A	ZEB2	NM_014795.4(ZEB2):c.1416_1420del:p.Arg473fs	coding	Pathogenic
2	144399799	AC	A	C144399801T	ZEB2	NM_014795.4(ZEB2):c.1387del:p.Val463fs	coding	Pathogenic
2	144399929	GC	G	C144399932A	ZEB2	NM_014795.4(ZEB2):c.1257del:p.Gly421fs	coding	Pathogenic
2	144399968	GT	G	T144399969G	ZEB2	NM_014795.4(ZEB2):c.1218del:p.His407fs	coding	Pathogenic
2	144400005	TGGTTCTGTTT	CATTAATTTTAAGTCA	T144400005C	ZEB2	NM_014795.4(ZEB2):c.1172_1182delinsTGACTTAAAATTAATG:p.Lys391_Pro394delinsMetThrTer	coding	Pathogenic
2	144400010	CTGTT	C	G144400012T	ZEB2	NM_014795.4(ZEB2):c.1173_1176del:p.Thr392fs	coding	Pathogenic
2	144400010	CTGTTT	C	G144400012A	ZEB2	NM_014795.4(ZEB2):c.1172_1176del:p.Lys391fs	coding	Pathogenic
2	144400048	C	CTAAG	G144400054A	ZEB2	NM_014795.4(ZEB2):c.1135_1138dup:p.Ser380delinsThrTer	coding	Pathogenic
2	144400071	CT	C	T144400073G	ZEB2	NM_014795.4(ZEB2):c.1115del:p.Lys372fs	coding	Pathogenic
2	144400094	C	CTG	A144400097T	ZEB2	NM_014795.4(ZEB2):c.1091_1092dup:p.Ala365fs	coding	Pathogenic
2	144400105	GGAGAA	G	G144400108A	ZEB2	NM_014795.4(ZEB2):c.1077_1081del:p.Ser360fs	coding	Pathogenic
2	144400129	GAAGAA	TTCTT	G144400129T	ZEB2	NM_014795.4(ZEB2):c.1053_1058delinsAAGAA:p.Ser352fs	coding	Pathogenic
2	144400148	TG	T	G144400149T	ZEB2	NM_014795.4(ZEB2):c.1038del:p.Asn346fs	coding	Pathogenic
2	144400169	CA	C	A144400170G	ZEB2	NM_014795.4(ZEB2):c.1017del:p.Ser339_Val340insTer	coding	Pathogenic
2	144400187	AT	A	T144400190C	ZEB2	NM_014795.4(ZEB2):c.999del:p.Lys333fs	coding	Pathogenic
2	144401205	G	GGAAA	A144401206G	ZEB2	NM_014795.4(ZEB2):c.909_910insTTTC:p.His304fs	coding	Pathogenic
2	144401223	TC	AT	T144401223A	ZEB2	NM_014795.4(ZEB2):c.891_892delinsAT:p.Lys298Ter	coding	Pathogenic
2	144401256	ACT	A	C144401259G	ZEB2	NM_014795.4(ZEB2):c.855_856AG[1]:p.Glu286fs	coding	Pathogenic
2	144401259	C	CT	G144401261T	ZEB2	NM_014795.4(ZEB2):c.855dup:p.Glu286fs	coding	Pathogenic
2	144403932	TTG	T	G144403938C	ZEB2	NM_014795.4(ZEB2):c.785_786CA[2]:p.His263fs	coding	Pathogenic
2	144403939	TCA	T	A144403941C	ZEB2	NM_014795.4(ZEB2):c.782_783del:p.Val261fs	coding	Pathogenic
2	144403946	A	AT	G144403948T	ZEB2	NM_014795.4(ZEB2):c.776dup:p.His259fs	coding	Pathogenic
2	144403951	GCT	G	T144403953G	ZEB2	NM_014795.4(ZEB2):c.770_771del:p.Glu257fs	coding	Pathogenic
2	144403961	G	GGT	C144403965T	ZEB2	NM_014795.4(ZEB2):c.760_761dup:p.Gln255fs	coding	Pathogenic
2	144403961	GGT	G	T144403963C	ZEB2	NM_014795.4(ZEB2):c.760_761del:p.Thr254fs	coding	Pathogenic
2	144404019	TC	T	C144404020G	ZEB2	NM_014795.4(ZEB2):c.703del:p.Glu235fs	coding	Pathogenic
2	144404063	GTAGCCCCGGTCGCAGTA	G	T144404064G	ZEB2	NM_014795.4(ZEB2):c.643_659del:p.Tyr215fs	coding	Pathogenic
2	144404066	GC	G	C144404070G	ZEB2	NM_014795.4(ZEB2):c.656del:p.Gly219fs	coding	Pathogenic
2	144404147	G	GAC	G144404149C	ZEB2	NM_014795.4(ZEB2):c.593-18_593-17insTG	noncoding	Benign
2	144404842	CT	C	T144404844C	ZEB2	NM_014795.4(ZEB2):c.585del:p.Glu196fs	coding	Pathogenic
2	144404859	TCTGGCGTGCCAAGGCGAGA	T	T144404861A	ZEB2	NM_014795.4(ZEB2):c.550_568del:p.Ser184fs	coding	Pathogenic
2	144404874	C	CCA	G144404875C	ZEB2	NM_014795.4(ZEB2):c.553_554insTG:p.Arg185fs	coding	Pathogenic
2	144404946	AC	A	C144404947T	ZEB2	NM_014795.4(ZEB2):c.481del:p.Val161fs	coding	Pathogenic
2	144404967	TC	T	C144404969A	ZEB2	NM_014795.4(ZEB2):c.460del:p.Glu154fs	coding	Pathogenic
2	144404995	C	CA	T144405000A	ZEB2	NM_014795.4(ZEB2):c.432dup:p.Glu145Ter	coding	Pathogenic
2	144404998	AATCTG	A	C144405001G	ZEB2	NM_014795.4(ZEB2):c.425_429del:p.Ser142fs	coding	Pathogenic
2	144424819	TG	T	G144424821A	ZEB2	NM_014795.4(ZEB2):c.379del:p.Gln127fs	coding	Pathogenic
2	144424847	C	CA	T144424849A	ZEB2	NM_014795.4(ZEB2):c.351dup:p.Asp118Ter	coding	Pathogenic
2	144429795	A	AT	C144429797T	ZEB2	NM_014795.4(ZEB2):c.304dup:p.Ile102fs	coding	Pathogenic
2	144429810	CA	C	A144429811G	ZEB2	NM_014795.4(ZEB2):c.289del:p.Trp97fs	coding	Pathogenic
2	144429860	TGGCA	T	G144429861A	ZEB2	NM_014795.4(ZEB2):c.236_239del:p.Leu78_Leu79insTer	coding	Pathogenic
2	144429864	AAC	A	C144429866G	ZEB2	NM_014795.4(ZEB2):c.234_235del:p.Leu79fs	coding	Pathogenic
2	144429866	CAGAGCTT	C	A144429867G	ZEB2	NM_014795.4(ZEB2):c.227_233del:p.Gln76fs	coding	Pathogenic
2	144429867	AG	A	G144429868A	ZEB2	NM_014795.4(ZEB2):c.232del:p.Leu78fs	coding	Pathogenic
2	144429904	GCA	G	A144429908T	ZEB2	NM_014795.4(ZEB2):c.192_193TG[1]:p.Val65fs	coding	Pathogenic
2	144429910	TAGCTGGACTCGT	AAC	T144429910A	ZEB2	NM_014795.4(ZEB2):c.178_190delinsGTT:p.Thr60fs	coding	Pathogenic
2	144517276	AC	A	C144517278G	ZEB2	NM_014795.4(ZEB2):c.73+1del	noncoding	Pathogenic
2	144517279	G	GT	C144517285T	ZEB2	NM_014795.4(ZEB2):c.71dup:p.Asn24fs	coding	Pathogenic
2	144517279	GT	G	T144517284C	ZEB2	NM_014795.4(ZEB2):c.71del:p.Asn24fs	coding	Pathogenic
2	144517286	CT	C	T144517287C	ZEB2	NM_014795.4(ZEB2):c.64del:p.Arg22fs	coding	Pathogenic
2	144517330	C	CA	G144517331A	ZEB2	NM_014795.4(ZEB2):c.20_21insT:p.Asp8fs	coding	Pathogenic
2	147935594	AG	A	G147935595T	ORC4	NM_181741.4(ORC4):c.1226del:p.Thr409fs	coding	Pathogenic
2	147939224	C	CTGTT	A147939229T	ORC4	NM_181741.4(ORC4):c.870_873dup:p.Ala292fs	coding	Pathogenic
2	147943530	GAA	G	A147943544G	ORC4	NM_181741.4(ORC4):c.763-10_763-9del	noncoding	Benign
2	147943530	GA	G	A147943545G	ORC4	NM_181741.4(ORC4):c.763-9del	noncoding	Benign
2	147943530	G	GA	G147943546A	ORC4	NM_181741.4(ORC4):c.763-23dup	noncoding	Benign
2	148462616	GT	G	T148462618A	MBD5	NM_018328.4(MBD5):c.150del:p.Thr52fs	coding	Pathogenic
2	148463858	TCATAAAAG	T	A148463862G	MBD5	NM_018328.4(MBD5):c.340_347del:p.Lys114fs	coding	Pathogenic
2	148463882	TCC	T	C148463883T	MBD5	NM_018328.4(MBD5):c.361_362del:p.Pro121fs	coding	Pathogenic
2	148463900	CA	C	A148463901G	MBD5	NM_018328.4(MBD5):c.379del:p.Ser127fs	coding	Pathogenic
2	148468474	CATGGGAAGGCTAT	C	G148468478T	MBD5	NM_001378120.1(MBD5):c.535_547del:p.Gly179fs	coding	Pathogenic
2	148468639	TG	T	G148468641A	MBD5	NM_018328.5(MBD5):c.698del:p.Gly233fs	coding	Pathogenic
2	148468668	AC	A	C148468671A	MBD5	NM_018328.5:c.728del	coding	Pathogenic
2	148468829	AAT	A	T148468833C	MBD5	NM_018328.4(MBD5):c.888_889TA[1]:p.Ile297fs	coding	Pathogenic
2	148468888	TA	T	A148468890T	MBD5	NM_001378120.1(MBD5):c.947del:p.Asn316fs	coding	Pathogenic
2	148468939	AC	A	C148468943A	MBD5	NM_018328.4(MBD5):c.1000del:p.Gln334fs	coding	Pathogenic
2	148468966	A	AC	T148468969C	MBD5	NM_018328.4(MBD5):c.1025dup:p.Ser343fs	coding	Pathogenic
2	148469056	G	GAA	C148469059A	MBD5	NM_018328.4(MBD5):c.1114_1115dup:p.Asn372fs	coding	Pathogenic
2	148469320	ATCACGCTCATC	A	C148469322T	MBD5	NM_001378120.1(MBD5):c.1379_1389del:p.Ser460fs	coding	Pathogenic
2	148469965	AATGG	A	G148469968A	MBD5	NM_018328.4(MBD5):c.2025_2028del:p.Met675fs	coding	Pathogenic
2	148470238	CACTA	C	A148470242T	MBD5	NM_018328.4(MBD5):c.2299_2302del:p.Asn767fs	coding	Pathogenic
2	148470262	TC	T	C148470264A	MBD5	NM_018328.4(MBD5):c.2321del:p.Pro774fs	coding	Pathogenic
2	148483176	CATCTGTTCTTCAAGATGGCGTCATAGTCACCACTGCAGCTGGAAACCCACTGCAGAGTCAGCTACCCATTGGGAGTGATTTT	C	A148483177C	MBD5	NM_018328.4(MBD5):c.2586_2667del:p.Ser863fs	coding	Pathogenic
2	148483221	AC	A	C148483224A	MBD5	NM_018328.4(MBD5):c.2633del:p.Pro878fs	coding	Pathogenic
2	148489454	TC	T	C148489456T	MBD5	NM_001378120.1(MBD5):c.3824del:p.Pro1275fs	coding	Pathogenic
2	148490029	A	AT	G148490031T	MBD5	NM_018328.4(MBD5):c.3699dup:p.Val1234fs	coding	Pathogenic
2	148490279	GC	G	C148490280A	MBD5	NM_001378120.1(MBD5):c.4648del:p.Gln1550fs	coding	Pathogenic
2	148509855	C	CT	A148509863T	MBD5	NM_018328.4(MBD5):c.4338-198dup	noncoding	Benign
2	148512905	AC	A	C148512911A	MBD5	NM_018328.4(MBD5):c.4455del:p.Lys1486fs	coding	Pathogenic
2	148929327	TTCA	T	T148929331G	KIF5C	NM_004522.3(KIF5C):c.265_267TCA[1]:p.Ser90del	coding	Pathogenic
2	149571078	TACTC	T	C149571082G	MMADHC	NM_015702.3(MMADHC):c.696+3_696+6del	noncoding	Pathogenic
2	149575762	CAT	C	A149575765C	MMADHC	NM_015702.3(MMADHC):c.554_555AT[1]:p.Met186fs	coding	Pathogenic
2	149575775	G	GT	G149575782T	MMADHC	NM_015702.3(MMADHC):c.544dup:p.Thr182fs	coding	Pathogenic
2	149576459	T	TG	T149576461G	MMADHC	NM_015702.3(MMADHC):c.455dup:p.Cys153fs	coding	Pathogenic
2	149576495	G	GT	A149576497T	MMADHC	NM_015702.3(MMADHC):c.419dup:p.Tyr140Ter	coding	Pathogenic
2	149579478	T	TTGATAAAGGTTCTGCTAG	A149579497T	MMADHC	NM_015702.3(MMADHC):c.307_324dup:p.Leu103_Ser108dup	coding	Pathogenic
2	149579499	C	CA	T149579501A	MMADHC	NM_015702.3(MMADHC):c.303dup:p.Val102fs	coding	Pathogenic
2	149579506	CAA	C	A149579508G	MMADHC	NM_015702.3(MMADHC):c.295_296del:p.Leu99fs	coding	Pathogenic
2	149579574	T	TC	A149579578C	MMADHC	NM_015702.3(MMADHC):c.228dup:p.Asn77fs	coding	Pathogenic
2	149579656	G	GA	C149579660A	MMADHC	NM_015702.3(MMADHC):c.155-11dup	noncoding	Benign
2	149582147	G	GC	A149582150C	MMADHC	NM_015702.3(MMADHC):c.133dup:p.Ala45fs	coding	Pathogenic
2	149582216	ACTAAAGAG	A	T149582218A	MMADHC	NM_015702.3(MMADHC):c.57_64del:p.Cys19_Ser20insTer	coding	Pathogenic
2	149582220	A	AAT	G149582222T	MMADHC	NM_015702.3(MMADHC):c.60_61insAT:p.Leu21fs	coding	Pathogenic
2	149582255	GCT	G	C149582258G	MMADHC	NM_015702.3(MMADHC):c.22_23AG[1]:p.Arg8fs	coding	Pathogenic
2	151485949	G	GA	G151485954A	NEB	NM_001271208.2(NEB):c.25510-20dup	noncoding	Benign
2	151490454	AC	A	C151490459A	NEB	NM_001271208.2(NEB):c.25319del:p.Gly8440fs	coding	Pathogenic
2	151491690	CAT	C	A151491691G	NEB	NM_001271208.2(NEB):c.25246_25247del:p.Met8416fs	coding	Pathogenic
2	151492156	CTGA	TTGAAT	C151492156T	NEB	NM_001271208.2(NEB):c.25101_25104delinsATTCAA:p.Gln8368fs	coding	Pathogenic
2	151492158	GA	G	A151492160T	NEB	NM_001271208.2(NEB):c.25101del:p.Gln8368fs	coding	Pathogenic
2	151493381	GCT	G	T151493387C	NEB	NM_001271208.2(NEB):c.24836_24837AG[2]:p.Arg8280fs	coding	Pathogenic/Likely_pathogenic
2	151493386	CTCCATCTCTGGAGTAACAGGTG	C	C151493389G	NEB	NM_001271208.2(NEB):c.24815_24836del:p.Thr8272fs	coding	Pathogenic
2	151493780	TAA	T	A151493782G	NEB	NM_001271208.2(NEB):c.24770_24771del:p.Asn8256_Phe8257insTer	coding	Pathogenic/Likely_pathogenic
2	151493780	TA	T	A151493783G	NEB	NM_001271208.2(NEB):c.24771del:p.Phe8257fs	coding	Pathogenic
2	151494184	G	GTT	G151494188T	NEB	NM_001271208.2(NEB):c.24659_24660dup:p.Arg8221fs	coding	Pathogenic/Likely_pathogenic
2	151494189	ACT	A	C151494194G	NEB	NM_001271208.2(NEB):c.24650_24651AG[2]:p.Arg8218fs	coding	Pathogenic/Likely_pathogenic
2	151494211	CAG	C	A151494212G	NEB	NM_001271208.2(NEB):c.24632_24633del:p.Pro8211fs	coding	Pathogenic
2	151494218	T	TG	C151494220G	NEB	NM_001271208.2(NEB):c.24626dup:p.Thr8210fs	coding	Pathogenic
2	151496363	T	TAA	C151496366A	NEB	NM_001271208.2(NEB):c.24502_24503dup:p.Leu8168fs	coding	Pathogenic
2	151496363	T	TAACA	C151496368A	NEB	NM_001271208.2(NEB):c.24500_24503dup:p.Leu8168fs	coding	Pathogenic
2	151496969	ACT	A	T151496975C	NEB	NM_001271208.2(NEB):c.24464_24465AG[2]:p.Arg8156fs	coding	Pathogenic/Likely_pathogenic
2	151496991	CAGGT	C	G151496994A	NEB	NM_001271208.2(NEB):c.24444_24447del:p.Pro8149fs	coding	Pathogenic/Likely_pathogenic
2	151497001	G	GGTTC	C151497006G	NEB	NM_001271208.2(NEB):c.24434_24437dup:p.Pro8147fs	coding	Pathogenic
2	151497028	T	TAA	C151497031A	NEB	NM_001271208.2(NEB):c.24409_24410dup:p.Leu8137fs	coding	Pathogenic
2	151497028	T	TAACA	C151497033A	NEB	NM_001271208.2(NEB):c.24407_24410dup:p.Leu8137fs	coding	Pathogenic/Likely_pathogenic
2	151497633	A	ATATT	T151497639A	NEB	NM_001271208.2(NEB):c.24394_24397dup:p.Ile8133fs	coding	Pathogenic
2	151497655	C	CTCTT	C151497662T	NEB	NM_001271208.2(NEB):c.24372_24375dup:p.Val8126fs	coding	Pathogenic
2	151497655	CTCTT	C	T151497658C	NEB	NM_001271208.2(NEB):c.24372_24375del:p.Arg8125fs	coding	Pathogenic
2	151497687	G	GT	C151497690T	NEB	NM_001271208.2(NEB):c.24343dup:p.Thr8115fs	coding	Pathogenic
2	151497712	A	ATT	A151497714T	NEB	NM_001271208.2(NEB):c.24318_24319insAA:p.Tyr8107fs	coding	Pathogenic
2	151497713	T	TAA	C151497716A	NEB	NM_001271208.2(NEB):c.24316_24317dup:p.Leu8106fs	coding	Pathogenic/Likely_pathogenic
2	151497713	T	TAACA	C151497718A	NEB	NM_001271208.2(NEB):c.24314_24317dup:p.Leu8106fs	coding	Pathogenic/Likely_pathogenic
2	151498274	C	CTTGA	T151498282A	NEB	NM_001271208.2(NEB):c.24294_24297dup:p.Glu8100fs	coding	Pathogenic
2	151498288	ACT	A	C151498293G	NEB	NM_001271208.2(NEB):c.24278_24279AG[2]:p.Arg8094fs	coding	Pathogenic/Likely_pathogenic
2	151498323	TC	T	C151498325T	NEB	NM_001271208.2(NEB):c.24248del:p.Gly8083fs	coding	Pathogenic
2	151499360	TC	T	C151499363T	NEB	NM_001271208.2(NEB):c.24156del:p.Ile8053fs	coding	Pathogenic
2	151499383	T	TACAAC	C151499391A	NEB	NM_001271208.2(NEB):c.24129_24133dup:p.Tyr8045fs	coding	Pathogenic/Likely_pathogenic
2	151501444	G	GT	A151501446T	NEB	NM_001271208.2(NEB):c.24072dup:p.Pro8025fs	coding	Pathogenic
2	151502869	T	TTTTC	G151502877C	NEB	NM_001271208.2(NEB):c.23953_23956dup:p.Asn7986fs	coding	Pathogenic
2	151502873	CT	C	T151502876G	NEB	NM_001271208.2(NEB):c.23952del:p.Glu7985fs	coding	Pathogenic
2	151506965	CAACT	C	A151506966G	NEB	NM_001271208.2(NEB):c.23601_23604del:p.Val7868fs	coding	Pathogenic
2	151508057	A	AAAAC	G151508063A	NEB	NM_001271208.2(NEB):c.23500_23503dup:p.Leu7835fs	coding	Pathogenic
2	151508077	CA	C	A151508078T	NEB	NM_001271208.2(NEB):c.23483del:p.Met7828fs	coding	Pathogenic/Likely_pathogenic
2	151508104	C	CT	C151508110T	NEB	NM_001271208.2(NEB):c.23456dup:p.Tyr7820fs	coding	Pathogenic
2	151512883	C	CAACA	G151512888A	NEB	NM_001271208.2(NEB):c.23347-50_23347-47dup	noncoding	Benign
2	151518341	C	CT	A151518346T	NEB	NM_001271208.2(NEB):c.22881dup:p.Glu7628fs	coding	Pathogenic
2	151519018	TC	T	C151519019A	NEB	NM_001271208.2(NEB):c.22746del:p.Met7582fs	coding	Pathogenic
2	151519736	CT	C	T151519740C	NEB	NM_001271208.2(NEB):c.22616del:p.Lys7539fs	coding	Pathogenic
2	151524371	T	TA	G151524374A	NEB	NM_001271208.2(NEB):c.22523dup:p.Leu7508fs	coding	Pathogenic
2	151524573	G	GTGGT	G151524578T	NEB	NM_001271208.2(NEB):c.22417_22420dup:p.Thr7474fs	coding	Pathogenic
2	151525178	GG	C	G151525178C	NEB	NM_001271208.2(NEB):c.22361_22362delinsG:p.Ala7454fs	coding	Pathogenic
2	151529232	T	TCC	T151529235C	NEB	NM_001271208.2(NEB):c.21816_21817dup:p.Asp7273fs	coding	Pathogenic
2	151531809	TG	T	G151531810A	NEB	NM_001271208.2(NEB):c.21609del:p.Asn7204fs	coding	Pathogenic
2	151531901	AT	A	T151531903G	NEB	NM_001271208.2(NEB):c.21523-6del	noncoding	Benign
2	151533540	AT	A	T151533544C	NEB	NM_001271208.2(NEB):c.21423del:p.Lys7141fs	coding	Pathogenic
2	151537139	TAG	T	A151537144T	NEB	NM_001271208.2(NEB):c.21194_21195CT[2]:p.Tyr7067fs	coding	Pathogenic
2	151537921	TC	T	C151537922A	NEB	NM_001271208.2(NEB):c.21052del:p.Asp7018fs	coding	Pathogenic
2	151540390	G	GT	A151540392T	NEB	NM_001271208.2(NEB):c.20845dup:p.Thr6949fs	coding	Pathogenic
2	151541495	AT	A	T151541496C	NEB	NM_001271208.2(NEB):c.20633del:p.Asp6878fs	coding	Pathogenic
2	151546001	TA	T	A151546018C	NEB	NM_001271208.2(NEB):c.20467-4del	noncoding	Benign/Likely_benign
2	151547513	G	GAA	G151547516A	NEB	NM_001271208.2(NEB):c.20281_20282dup:p.Phe6762fs	coding	Pathogenic
2	151547539	G	GA	T151547549A	NEB	NM_001271208.2(NEB):c.20263-15dup	noncoding	Benign
2	151553413	ATAAG	CTC	A151553413C	NEB	NM_001271208.2(NEB):c.19712_19716delinsGAG:p.Ala6571fs	coding	Pathogenic
2	151553414	TAAGC	T	A151553416T	NEB	NM_001271208.2(NEB):c.19711_19714del:p.Ala6571fs	coding	Pathogenic
2	151560620	GC	TT	G151560620T	NEB	NM_001271208.2(NEB):c.19285_19286delinsAA:p.Ala6429Asn	coding	Benign/Likely_benign
2	151562629	GGCGTTTCGGAC	G	T151562634A	NEB	NM_001271208.2(NEB):c.18862_18872del:p.Val6288fs	coding	Pathogenic
2	151562670	ACG	A	C151562671T	NEB	NM_001271208.2(NEB):c.18830_18831del:p.Thr6277fs	coding	Pathogenic
2	151563701	AT	A	T151563702G	NEB	NM_001271208.2(NEB):c.18597del:p.Tyr6200fs	coding	Pathogenic
2	151565765	TC	T	C151565767A	NEB	NM_001271208.2(NEB):c.18211del:p.Asp6071fs	coding	Pathogenic
2	151567337	GT	G	T151567341G	NEB	NM_001271208.2(NEB):c.17986del:p.Thr5996fs	coding	Pathogenic
2	151568086	AT	A	T151568088G	NEB	NM_001271208.2(NEB):c.17828del:p.Asn5943fs	coding	Pathogenic
2	151568133	TG	T	G151568134T	NEB	NM_001271208.2(NEB):c.17781del:p.Gly5926_Tyr5927insTer	coding	Pathogenic
2	151568317	TG	T	G151568319T	NEB	NM_001271208.2(NEB):c.17734del:p.Gln5912fs	coding	Pathogenic
2	151568356	A	AG	T151568363G	NEB	NM_001271208.2(NEB):c.17695dup:p.Leu5899fs	coding	Pathogenic
2	151568397	CCA	C	C151568398G	NEB	NM_001271208.2(NEB):c.17653_17654del:p.Trp5885fs	coding	Pathogenic
2	151568419	T	TA	T151568433A	NEB	NM_001271208.2(NEB):c.17635-15dup	noncoding	Benign
2	151568693	TTC	T	C151568695A	NEB	NM_001271208.2(NEB):c.17557_17558del:p.Glu5853fs	coding	Pathogenic
2	151568710	A	AT	C151568717T	NEB	NM_001271208.2(NEB):c.17541dup:p.Tyr5848fs	coding	Pathogenic
2	151570310	CAGCGG	C	G151570312T	NEB	NM_001271208.2(NEB):c.17196_17200del:p.Ile5732fs	coding	Pathogenic
2	151591331	G	GC	A151591332C	NEB	NM_001271208.2(NEB):c.14934+16_14934+17insG	noncoding	Benign
2	151600704	CA	C	A151600705G	NEB	NM_001271208.2(NEB):c.13525del:p.Cys4509fs	coding	Pathogenic
2	151606614	CA	C	A151606616T	NEB	NM_001271208.2(NEB):c.12738del:p.Ile4246fs	coding	Pathogenic
2	151607587	TC	T	C151607589A	NEB	NM_001271208.2(NEB):c.12555del:p.Ala4184_Trp4185insTer	coding	Pathogenic
2	151609917	C	CT	G151609919T	NEB	NM_001271208.2(NEB):c.12221dup:p.Thr4075fs	coding	Pathogenic
2	151609956	TG	T	G151609959C	NEB	NM_001271208.2(NEB):c.12182del:p.Pro4061fs	coding	Pathogenic
2	151609978	CA	C	A151609979C	NEB	NM_001271208.2(NEB):c.12160del:p.Trp4054fs	coding	Pathogenic
2	151612377	AT	A	T151612380G	NEB	NM_001271208.2(NEB):c.11613del:p.Lys3871fs	coding	Pathogenic
2	151614291	AT	G	A151614291G	NEB	NM_001271208.2(NEB):c.11585_11586delinsC:p.Tyr3862fs	coding	Pathogenic
2	151616106	GT	G	T151616109C	NEB	NM_001271208.2(NEB):c.11184del:p.Lys3728fs	coding	Pathogenic
2	151617472	CA	C	A151617488G	NEB	NM_001271208.1(NEB):c.11077-5delT	noncoding	Benign
2	151617472	C	CAAA	G151617489A	NEB	NM_001271208.2(NEB):c.11077-20_11077-18dup	noncoding	Benign
2	151617487	A	AAG	A151617505G	NEB	NM_001271208.2(NEB):c.11077-35CT[9]	noncoding	Benign
2	151618296	G	GT	G151618303T	NEB	NM_001271208.2(NEB):c.11054dup:p.Asn3685fs	coding	Pathogenic
2	151618340	A	AT	C151618344T	NEB	NM_001271208.2(NEB):c.11010dup:p.Phe3671fs	coding	Pathogenic
2	151620985	GC	G	C151620987T	NEB	NM_001271208.2(NEB):c.10493del:p.Gly3498fs	coding	Pathogenic
2	151629643	G	GAT	G151629645T	NEB	NM_001271208.2(NEB):c.9726_9727insAT:p.Leu3243fs	coding	Pathogenic
2	151631295	TG	T	G151631299A	NEB	NM_001271208.2(NEB):c.9465del:p.Ile3156fs	coding	Pathogenic/Likely_pathogenic
2	151633849	CCT	C	C151633850G	NEB	NM_001271208.2(NEB):c.9217_9218del:p.Arg3073fs	coding	Pathogenic
2	151640580	GGA	G	G151640581C	NEB	NM_001271208.2(NEB):c.8458_8459del:p.Ser2820fs	coding	Pathogenic
2	151640614	CG	C	G151640617C	NEB	NM_001271208.2(NEB):c.8425del:p.Arg2809fs	coding	Pathogenic
2	151643268	GCTCGTTTATTT	G	C151643269T	NEB	NM_001271208.2(NEB):c.8031_8041del:p.Lys2677fs	coding	Pathogenic/Likely_pathogenic
2	151643312	GC	G	C151643314A	NEB	NM_001271208.2(NEB):c.7997del:p.Gly2666fs	coding	Pathogenic
2	151643325	AG	A	G151643326C	NEB	NM_001271208.2(NEB):c.7984del:p.Trp2661_Leu2662insTer	coding	Pathogenic
2	151645755	CTGATCCAAAATTTCATTGAGTGTCTACTATGTGTCAGGCACGATTCTAGATAAGCACTGTAGATTCAATAAGAATTGCCTCTGCCTGCAAAGAGTGCCTGTCCACACTGGGAAGAGCAATATAAGCCACCTTATGATGATATGTATAACAACGGACTGCAAGGAACAGAGAATACAGACTCCCCATTCTGCCTGACATAGTGAGTACTAACATTTCGATATTCAATCTAAAAGCCACTAAATAAGGAATCTAAGTCATATGTAGTTAATTAATTAAAATAATTCAGGGATTCAGAGAACTTCTAGACAATTTCACTGATTTAGAAACAATTAAAATGAGCTTTCTGAAAACACATGCTGAATTTGAAAACTTACATCACTTGTGTTGATTAAGTTTGCTTTAGCCAGAACAATGTCAGGTGTATCAGGCATGATGTGGATCTGAGTCTTGTCTTTGTCCCAAGCTTCTCTATAAAGTCTCTAAAATAAGAAATAATAATTTTTCAGTGGTGTTGTTAGATTAGTGAATGATACAGTTGGCTTCAAACAGAATTGCTGAATTTATCTGAATTAAACATTATACAGAATTGATATAATAAGCAGACAACATAAGCAGAAAATAGATGCAATATTTCTTGACTTATCTGGGACATAACTGCCTTTCAACACAGAGATTATGGGTCACATTTTCAAAGTTACAGATAATCCTGCCTACAAGAAATCAATCTAGGTAATTACATGCCTTGCCAATATTATCAAATGAAACAGGCTTCTCCATCTTCTGGGTTGTGTCCCTCAGTGTTTAATTTAGAGGCAGCCCTTGCCTTTTCAAAAGATGTCTTATTCAAAGCATGCCTAGAAATCAGGAAGTTTTATTTCCTATGTGGCTTATTGTTATCACTATCATTATTTTGACACAGAGTCTTACACTGCTGCCCAGGCTGGAGTGCAATGGCGCAATCATGGCTCACTGCAACCTCTGCCTCCTGAGTTCAAGTGATTCTGGTGCCTCAGCCACCTGAGTAGCTAGGATTACAGGCATGTGCCACCATACCCGGCTAATTTTTGTATTTTTAGTAGAAACAGGGTTTCGCTACGTTGTGCAGGCTGGCCTTGAACTCCCCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACTGTGTCCAGCTTCTATGTGACTTAGTATTTATAGTTATGCCTCATAATCATTGTGAAGGATTAGGATTCCCAAAAGGATTTTTTGGGGGGGAATTTATCAAGATATCTTGGATGTCCCAGAGCCATCCTTATGTCTCTTCAACAGAAGACAAGGGGATCCAAACAAAAGTTTCACAGACTTACTAAAACTAATAATTTTTTTTTTTTGAGATGGAGTTTCACTCTTGTTGCCCATGCTGGAGTGCAATGGTGCAGTCTTAGCTCACTGTAATCTCCACCTCCCAGGTTCAAGCAATTCTCCTGCCTCAGCTTCCCAAGTAGCTGGGATTACAGGCACCCACCACATGCCCAGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGATCGCAGGTGATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCATCGTGCCCGGCTAAAACTAGGAAAATTTGATTAAAAACAGAATATTTACACAGGGCAGAATATCTCCCTGCCAGATTACTTATCAATTACAAAGGATAAAATGGTTACTCAACAGTACAGCAACCTGGCACCATCACTTTAACCAAGTGTTTAAGTTATTAGTAATAGAACAAATTGATATCCTGTGCCTCCTGATATGAGGTACTGAGGAGGACACAATGTGTGATCTCCTGCTGAAAAGATAATCTGAGTCTATCACAGGAACCCACCAGAAAACCCAAATGGAGGGAGATTCTACAAAATAACTGACCTATGTTCTTTACGAATGTCAAAAACTTGGAAGGCAAAGAAACAGTGAGGAACTAGTCCAGAGTAAAGGAGACTAAAGACATAGCAAGTAATGCAACCTGTGGTCTTGGATTAAATCCTGAGCCAGAGAAAATATTTTCTTTTCTTATAAAGGATATTAGTGATAAAATTGAATAAATTCTGTAGACTAGCAGACCAGTGGAAATTAATTCTGTGATTTTAATCATCACAATGTGATTATGTGAGTATGTTCTTATTCTTGGGAAATACAGACGGAATATTTAGGCATCATGAAGCAATTTAATTTCTCATATAGATATATAGATATAGATCTGAGAGAAAGAAAGGGAGAAAAAGAGACAAAAAGAGAAAGCAAATGTGGTAAAATTTTAACATTTGGGGAATCTGGGTATATGTATGCACACACACATACACACATATGTGAATTACATGTACTATTTTTTCAACTTTTCTGAGTGCCTGAAATTATTTCAATAAAAAATTTTTTTGTCTCATTGATTCCTTAAACTTGTCCATTTCCCTTTGAGGTA	C	A151645758C	NEB	NM_001271208.2(NEB):c.7431+1919_7536+374del	noncoding	Pathogenic
2	151646139	GTTGA	G	G151646142A	NEB	NM_001271208.2(NEB):c.7523_7526del:p.Ile2508fs	coding	Pathogenic
2	151650807	CA	C	A151650809G	NEB	NM_001271208.2(NEB):c.6993del:p.Val2332fs	coding	Pathogenic
2	151654082	TC	T	C151654084A	NEB	NM_001271208.2(NEB):c.6824del:p.Gly2275fs	coding	Pathogenic
2	151655323	GC	G	C151655324A	NEB	NM_001271208.2(NEB):c.6753del:p.Met2251fs	coding	Pathogenic
2	151655342	C	CT	A151655345T	NEB	NM_001271208.2(NEB):c.6734dup:p.Thr2246fs	coding	Pathogenic
2	151655366	GT	G	T151655367A	NEB	NM_001271208.2(NEB):c.6710del:p.Tyr2237fs	coding	Pathogenic
2	151656303	G	GGT	G151656309T	NEB	NM_001271208.2(NEB):c.6341_6342AC[3]:p.Ala2117fs	coding	Pathogenic
2	151658050	CCTTT	C	C151658055T	NEB	NM_001271208.2(NEB):c.6108_6111AAAG[1]:p.Lys2038fs	coding	Pathogenic
2	151658087	GT	G	T151658090C	NEB	NM_001271208.2(NEB):c.6078del:p.Lys2026fs	coding	Pathogenic/Likely_pathogenic
2	151659162	T	TA	G151659164A	NEB	NM_001271208.2(NEB):c.5977dup:p.Tyr1993fs	coding	Pathogenic
2	151663588	CT	C	T151663589C	NEB	NM_001271208.2(NEB):c.5722del:p.Ser1908fs	coding	Pathogenic
2	151664847	TTTTCAGTGTA	T	T151664848G	NEB	NM_001271208.2(NEB):c.5245_5254del:p.Tyr1749fs	coding	Pathogenic
2	151667870	GC	G	C151667873T	NEB	NM_001271208.2(NEB):c.4652del:p.Gly1551fs	coding	Pathogenic
2	151667899	CT	C	T151667902A	NEB	NM_001271208.2(NEB):c.4623del:p.Ala1542fs	coding	Pathogenic
2	151669101	TCA	T	C151669102G	NEB	NM_001271208.2(NEB):c.4535_4536del:p.Leu1512fs	coding	Pathogenic
2	151674475	AC	CA	A151674475C	NEB	NM_001271208.2(NEB):c.3987+1_3987+2delinsTG	noncoding	Pathogenic/Likely_pathogenic
2	151677954	ATGCTTATAGTTGACAT	A	T151677959G	NEB	NM_001271208.2(NEB):c.3473_3488del:p.Asn1158fs	coding	Pathogenic
2	151678058	CT	C	T151678064A	NEB	NM_001271208.2(NEB):c.3384del:p.Asp1129fs	coding	Pathogenic
2	151678172	CT	C	T151678178G	NEB	NM_001271208.2(NEB):c.3270del:p.Asp1091fs	coding	Pathogenic
2	151678177	TTG	T	G151678179A	NEB	NM_001271208.2(NEB):c.3264_3265del:p.Tyr1088_Lys1089delinsTer	coding	Pathogenic
2	151684828	CA	C	A151684829G	NEB	NM_001271208.2(NEB):c.2784del:p.Asp929fs	coding	Pathogenic/Likely_pathogenic
2	151692099	T	TA	T151692101A	NEB	NM_001271208.2(NEB):c.2065dup:p.Tyr689fs	coding	Pathogenic
2	151694369	TC	T	C151694370G	NEB	NM_001271208.2(NEB):c.1849del:p.Asp617fs	coding	Pathogenic/Likely_pathogenic
2	151694627	AT	A	T151694629C	NEB	NM_001271208.2(NEB):c.1676del:p.Asn559fs	coding	Pathogenic
2	151695628	CA	C	A151695629G	NEB	NM_001271208.2(NEB):c.1623del:p.Asp542fs	coding	Pathogenic/Likely_pathogenic
2	151696672	GCAGAA	G	A151696676G	NEB	NM_001271208.2(NEB):c.1529_1533del:p.Val510fs	coding	Pathogenic
2	151697381	TG	T	G151697382T	NEB	NM_001271208.2(NEB):c.1333del:p.His445fs	coding	Pathogenic
2	151709672	CCAGCTTTTTTATT	C	G151709675T	NEB	NM_001271208.2(NEB):c.1006_1018del:p.Asn336fs	coding	Pathogenic
2	151717388	A	AGGC	A151717392G	NEB	NM_001271208.2(NEB):c.822+25_822+27dup	noncoding	Benign
2	151717501	AG	A	G151717502A	NEB	NM_001271208.2(NEB):c.736del:p.Leu246fs	coding	Pathogenic
2	151717513	TA	T	A151717514G	NEB	NM_001271208.2(NEB):c.724del:p.Tyr242fs	coding	Pathogenic
2	151724864	ACTTG	A	T151724867G	NEB	NM_001271208.2(NEB):c.496_499del:p.Gln166fs	coding	Pathogenic
2	151727801	ATGCTGGCTGTGCCAG	A	T151727817A	NEB	NM_001271208.2(NEB):c.154_168CTGGCACAGCCAGCA[1]:p.52_56LAQPA[1]	coding	Benign
2	151836930	CA	C	A151836932T	CACNB4	NM_000726.4(CACNB4):c.*2188del	noncoding	Benign
2	151838494	AT	A	T151838504G	CACNB4	NM_000726.4(CACNB4):c.*624del	noncoding	Benign
2	151870849	TG	T	G151870850C	CACNB4	NM_001330113.2(CACNB4):c.545-239del	coding	Pathogenic
2	152670383	TATAGCA	T	T152670385A	PRPF40A	NM_017892.4(PRPF40A):c.1480-8_1480-3del	noncoding	Benign
2	156325324	CTG	C	G156325344A	NR4A2	NM_006186.4(NR4A2):c.*400_*401CA[9]	noncoding	Benign
2	156329861	T	TG	C156329869G	NR4A2	NM_006186.4(NR4A2):c.325dup:p.Gln109fs	coding	Pathogenic
2	160101838	GAA	G	A160101849G	ITGB6	NM_000888.5(ITGB6):c.2269-6_2269-5del	noncoding	Benign
2	160101838	GA	G	A160101850G	ITGB6	NM_000888.5(ITGB6):c.2269-5del	noncoding	Benign
2	161417689	TTTTTAAG	T	G161417696C	TBR1	NM_006593.4(TBR1):c.713_719del:p.Ser238fs	coding	Pathogenic/Likely_pathogenic
2	161423547	ACG	CA	A161423547C	TBR1	NM_006593.4(TBR1):c.1369_1371delinsCA:p.Thr457fs	coding	Pathogenic/Likely_pathogenic
2	161423752	C	CGCTGCAG	C161423773G	TBR1	NM_006593.4(TBR1):c.1581_1587GGCTGCA[3]:p.Thr532fs	coding	Pathogenic/Likely_pathogenic
2	161423908	G	GC	G161423910C	TBR1	NM_006593.4(TBR1):c.1731dup:p.Ala578fs	coding	Pathogenic
2	162277698	GA	G	A162277704T	IFIH1	NM_022168.4(IFIH1):c.1766-6del	noncoding	Benign
2	162278205	C	CT	C162278214T	IFIH1	NM_022168.4(IFIH1):c.1764dup:p.Ala589fs	coding	Benign
2	164915282	C	CA	G164915292A	SLC38A11	NM_173512.2(SLC38A11):c.455-18dup	noncoding	Benign
2	165176265	CATT	C	T165176268C	SCN3A	NM_006922.4(SCN3A):c.127_129del:p.Asn43del	coding	Benign
2	165307884	CA	C	A165307886C	SCN2A	NM_001040142.2(SCN2A):c.425del:p.Asn142fs	coding	Pathogenic
2	165307910	AC	A	C165307913T	SCN2A	NM_001040142.2(SCN2A):c.452del:p.Pro151fs	coding	Pathogenic
2	165308694	GA	G	A165308696T	SCN2A	NM_001040142.2(SCN2A):c.507del:p.Glu169fs	coding	Pathogenic
2	165310331	AC	A	C165310333A	SCN2A	NM_001040142.2(SCN2A):c.708del:p.Ile237fs	coding	Pathogenic
2	165310505	TC	T	C165310507T	SCN2A	NM_001040142.2(SCN2A):c.882del:p.Phe295fs	coding	Pathogenic
2	165310585	TGAGGATAAAA	T	A165310587T	SCN2A	NM_001040142.2(SCN2A):c.962_970+1del	coding	Pathogenic
2	165312071	C	CA	C165312074A	SCN2A	NM_001040142.2(SCN2A):c.1019dup:p.Asn340fs	coding	Pathogenic
2	165313702	GC	G	C165313704T	SCN2A	NM_001040142.2(SCN2A):c.1119del:p.Leu375fs	coding	Pathogenic
2	165313737	CT	C	T165313739C	SCN2A	NM_001040142.2(SCN2A):c.1154del:p.Phe385fs	coding	Pathogenic
2	165313919	G	GA	C165313924A	SCN2A	NM_001040142.2(SCN2A):c.1198dup:p.Thr400fs	coding	Pathogenic
2	165315538	CAG	C	A165315543T	SCN2A	NM_001040142.2(SCN2A):c.1456_1457del:p.Ser486fs	coding	Pathogenic
2	165315615	CAGAA	C	A165315620C	SCN2A	NM_001040142.2(SCN2A):c.1529_1532AGAA[1]:p.Lys511fs	coding	Pathogenic
2	165315615	CAG	C	G165315617A	SCN2A	NM_001040142.2(SCN2A):c.1530_1531del:p.Lys511fs	coding	Pathogenic
2	165315732	GA	G	A165315736G	SCN2A	NM_001040142.2(SCN2A):c.1649del:p.Lys550fs	coding	Pathogenic
2	165323310	ACT	A	C165323315G	SCN2A	NM_001040142.2(SCN2A):c.1831_1832del:p.Leu611fs	coding	Pathogenic
2	165323372	CGT	C	T165323374C	SCN2A	NM_001040142.2(SCN2A):c.1890_1891del:p.Ala631fs	coding	Pathogenic
2	165331408	AAC	A	A165331409C	SCN2A	NM_001040142.2(SCN2A):c.2229_2230del:p.Lys743fs	coding	Pathogenic
2	165331533	GA	G	A165331534G	SCN2A	NM_001040142.2(SCN2A):c.2354del:p.Glu785fs	coding	Pathogenic
2	165344571	TG	T	G165344573C	SCN2A	NM_001040142.2(SCN2A):c.2581del:p.Ala861fs	coding	Pathogenic
2	165344612	ATTGGCAATTC	A	T165344614G	SCN2A	NM_001040142.2(SCN2A):c.2622_2631del:p.Ile874fs	coding	Pathogenic
2	165344719	A	ATGTGTCTT	G165344727T	SCN2A	NM_001040142.2(SCN2A):c.2734_2735insTTGTGTCT:p.Cys912fs	coding	Pathogenic
2	165344814	G	GA	G165344816A	SCN2A	NM_001040142.2(SCN2A):c.2823dup:p.Glu942fs	coding	Pathogenic
2	165354212	C	CT	G165354215T	SCN2A	NM_001040142.2(SCN2A):c.2942dup:p.Leu981fs	coding	Pathogenic
2	165354305	GA	G	A165354308G	SCN2A	NM_001040142.2(SCN2A):c.3036del:p.Gly1013fs	coding	Pathogenic
2	165354338	TGA	T	G165354339A	SCN2A	NM_001040142.2(SCN2A):c.3067_3068del:p.Glu1023fs	coding	Pathogenic
2	165354379	TA	G	T165354379G	SCN2A	NM_001040142.2(SCN2A):c.3107_3108delinsG:p.Leu1036fs	coding	Pathogenic
2	165354645	GA	G	A165354646G	SCN2A	NM_001040142.2(SCN2A):c.3374del:p.Glu1125fs	coding	Pathogenic
2	165354660	GA	G	A165354663G	SCN2A	NM_001040142.2(SCN2A):c.3391del:p.Ser1131fs	coding	Pathogenic
2	165365142	GA	G	A165365144G	SCN2A	NM_001040142.2(SCN2A):c.3401del:p.Lys1134fs	coding	Pathogenic
2	165367272	ACT	A	C165367275G	SCN2A	NM_001040142.2(SCN2A):c.3577_3578CT[1]:p.Trp1194fs	coding	Pathogenic
2	165370185	T	TG	A165370187G	SCN2A	NM_001040142.2(SCN2A):c.3736dup:p.Asp1246fs	coding	Pathogenic
2	165370244	GT	G	T165370248C	SCN2A	NM_001040142.2(SCN2A):c.3798del:p.Gln1267fs	coding	Pathogenic
2	165373285	T	TC	T165373289C	SCN2A	NM_001040142.2(SCN2A):c.3913dup:p.Leu1305fs	coding	Pathogenic
2	165377611	A	AT	G165377613T	SCN2A	NM_001040142.2(SCN2A):c.4270dup:p.Trp1424fs	coding	Pathogenic
2	165380360	TG	T	G165380361T	SCN2A	NM_001040142.2(SCN2A):c.4309-231del	noncoding	Benign
2	165380624	G	GTACA	G165380630A	SCN2A	NM_001040142.2(SCN2A):c.4343_4346dup:p.Met1449fs	coding	Pathogenic
2	165380652	A	AT	A165380655T	SCN2A	NM_001040142.2(SCN2A):c.4371dup:p.Ile1458fs	coding	Pathogenic
2	165380669	C	CT	A165380673T	SCN2A	NM_001040142.2(SCN2A):c.4389dup:p.Thr1464fs	coding	Pathogenic
2	165380689	TTGG	ATGT	T165380689A	SCN2A	NM_001040142.2(SCN2A):c.4406_4409delinsATGT:p.Ile1469_Gly1470delinsAsnVal	coding	Pathogenic
2	165381118	CAGA	C	G165381123C	SCN2A	NM_001040142.2(SCN2A):c.4474_4476GAA[1]:p.Glu1493del	coding	Pathogenic
2	165381139	AC	A	C165381140A	SCN2A	NM_001040142.2(SCN2A):c.4494del:p.Tyr1497_Tyr1498insTer	coding	Pathogenic
2	165381514	AC	A	C165381515A	SCN2A	NM_001040142.2(SCN2A):c.4551+318del	noncoding	Benign
2	165386884	TAC	T	A165386885T	SCN2A	NM_001040142.2(SCN2A):c.4691_4692del:p.Tyr1564fs	coding	Pathogenic
2	165386919	TG	T	G165386921A	SCN2A	NM_001040142.2(SCN2A):c.4727del:p.Gly1576fs	coding	Pathogenic
2	165388648	GAT	G	T165388650G	SCN2A	NM_001040142.2(SCN2A):c.4844_4845del:p.Ile1615fs	coding	Pathogenic
2	165388783	GTTGT	G	G165388786A	SCN2A	NM_001040142.2(SCN2A):c.4980_4983del:p.Phe1661fs	coding	Pathogenic
2	165388852	TGC	GG	T165388852G	SCN2A	NM_001040142.2(SCN2A):c.5046_5048delinsGG:p.Phe1682fs	coding	Pathogenic
2	165389121	TC	T	C165389122G	SCN2A	NM_001040142.2(SCN2A):c.5316del:p.Ile1772fs	coding	Pathogenic
2	165761939	T	TG	C165761941G	GALNT3	NM_004482.4(GALNT3):c.803dup:p.Thr269fs	coding	Pathogenic
2	165764894	AG	A	G165764895C	GALNT3	NM_004482.4(GALNT3):c.677del:p.Ala226fs	coding	Pathogenic
2	165888353	AAT	A	T165888355G	TTC21B	NM_024753.5(TTC21B):c.3383_3384del:p.Tyr1128fs	coding	Pathogenic
2	165901914	G	GA	T165901921A	TTC21B	NM_024753.5(TTC21B):c.2569-10dup	noncoding	Benign/Likely_benign
2	165901919	A	AAT	C165901922A	TTC21B	NM_024753.5(TTC21B):c.2569-11_2569-10dup	noncoding	Benign
2	165924732	T	TA	T165924737A	TTC21B	NM_024753.5(TTC21B):c.1387-58dup	noncoding	Benign
2	165929648	ACCGCAGATTTT	A	G165929651A	TTC21B	NM_024753.5(TTC21B):c.1176_1185+1del	noncoding	Pathogenic
2	165930020	A	ATTTTAT	A165930026T	TTC21B	NM_024753.5(TTC21B):c.1087+151_1087+152insTAAAAA	noncoding	Benign
2	165941478	C	CAGG	A165941480G	TTC21B	NM_024753.5(TTC21B):c.553-295_553-294insTCC	noncoding	Benign
2	165945684	T	TTCTA	C165945685T	TTC21B	NM_024753.5(TTC21B):c.268_269insTAGA:p.Glu90fs	coding	Pathogenic
2	165991520	CA	C	A165991521G	SCN1A	NM_001165963.4(SCN1A):c.5754del:p.Ala1919fs	coding	Pathogenic
2	165991526	CTTCCT	C	T165991527C	SCN1A	NM_001165963.4(SCN1A):c.5744_5748del:p.Glu1915fs	coding	Pathogenic
2	165991528	TC	T	C165991530T	SCN1A	NM_001165963.4(SCN1A):c.5746del:p.Glu1916fs	coding	Pathogenic
2	165991563	C	CTGAT	A165991568T	SCN1A	NM_001165963.4(SCN1A):c.5708_5711dup:p.Pro1905fs	coding	Pathogenic
2	165991577	TG	T	G165991579A	SCN1A	NM_001165963.4(SCN1A):c.5697del:p.Lys1900fs	coding	Pathogenic
2	165991735	AG	A	G165991736T	SCN1A	NM_001165963.4(SCN1A):c.5539del:p.Leu1847fs	coding	Pathogenic
2	165991735	AGTTT	A	T165991741G	SCN1A	NM_001165963.4(SCN1A):c.5532_5535AAAC[1]:p.Lys1846fs	coding	Pathogenic
2	165991762	GGCGGTTCAA	G	G165991766C	SCN1A	NM_001165963.4(SCN1A):c.5504_5512del:p.Leu1835_Pro1837del	coding	Pathogenic
2	165991779	T	TA	G165991780A	SCN1A	NM_001165963.4(SCN1A):c.5495_5496insT:p.Ala1833fs	coding	Pathogenic
2	165991785	CTG	C	T165991786A	SCN1A	NM_006920.6(SCN1A):c.5455_5456del:p.Gln1819fs	coding	Pathogenic
2	165991848	AT	A	T165991849A	SCN1A	NM_006920.6(SCN1A):c.5393del:p.Tyr1798fs	coding	Pathogenic
2	165991868	CCTCA	C	C165991873G	SCN1A	NM_001165963.4(SCN1A):c.5399_5402TGAG[1]:p.Ser1801fs	coding	Pathogenic
2	165991875	CA	C	A165991876G	SCN1A	NM_006920.6(SCN1A):c.5366del:p.Leu1789fs	coding	Pathogenic
2	165991888	CT	C	T165991891C	SCN1A	NM_001165963.4(SCN1A):c.5386del:p.Ser1796fs	coding	Pathogenic
2	165991922	T	TGACC	C165991928A	SCN1A	NM_001165963.4(SCN1A):c.5349_5352dup:p.Ile1785fs	coding	Pathogenic
2	165991931	TG	T	G165991932T	SCN1A	NM_001165963.4(SCN1A):c.5343del:p.Met1780_Tyr1781insTer	coding	Pathogenic
2	165991940	TC	T	C165991941A	SCN1A	NM_001165963.4(SCN1A):c.5334del:p.Asn1779fs	coding	Pathogenic
2	165991976	CAAAAA	C	A165991978G	SCN1A	NM_001165963.4(SCN1A):c.5294_5298del:p.Phe1765fs	coding	Pathogenic
2	165991976	CAA	C	A165991981G	SCN1A	NM_001165963.4(SCN1A):c.5297_5298del:p.Phe1766fs	coding	Pathogenic
2	165991983	G	GAAAATTCC	C165991994A	SCN1A	NM_001165963.4(SCN1A):c.5284_5291dup:p.Phe1764fs	coding	Pathogenic
2	165991997	ATGGGT	A	G165991999C	SCN1A	NM_001165963.4(SCN1A):c.5273_5277del:p.Asn1758fs	coding	Pathogenic
2	165992022	TGAG	T	G165992023C	SCN1A	NM_001165963.4(SCN1A):c.5250_5252del:p.Ser1750_Ser1751delinsArg	coding	Pathogenic
2	165992024	A	ACC	G165992025C	SCN1A	NM_001165963.4(SCN1A):c.5250_5251insGG:p.Ser1751fs	coding	Pathogenic
2	165992057	CG	C	G165992060T	SCN1A	NM_006920.6(SCN1A):c.5184del:p.Asp1729fs	coding	Pathogenic
2	165992061	TGG	T	G165992062C	SCN1A	NM_001165963.4(SCN1A):c.5212_5213del:p.Pro1738fs	coding	Pathogenic
2	165992076	AATGGGTGCTAGCAATCC	A	G165992079C	SCN1A	NM_001165963.4(SCN1A):c.5182_5198del:p.Gly1728fs	coding	Pathogenic
2	165992166	GT	G	T165992167C	SCN1A	NM_006920.6(SCN1A):c.5075del:p.Asp1692fs	coding	Pathogenic
2	165992187	CT	C	T165992189A	SCN1A	NM_001165963.4(SCN1A):c.5087del:p.Lys1696fs	coding	Pathogenic
2	165992249	GGAGGCC	G	G165992252T	SCN1A	NM_001165963.4(SCN1A):c.5020_5025del:p.Gly1674_Leu1675del	coding	Pathogenic
2	165992261	TAAAC	T	A165992264C	SCN1A	NM_001165963.4(SCN1A):c.5010_5013del:p.Phe1671fs	coding	Pathogenic
2	165992271	AG	A	G165992273A	SCN1A	NM_001165963.4(SCN1A):c.5003del:p.Pro1668fs	coding	Pathogenic
2	165992278	G	GACAT	C165992283A	SCN1A	NM_001165963.4(SCN1A):c.4993_4996dup:p.Ser1666fs	coding	Pathogenic
2	165992293	AAG	A	A165992296C	SCN1A	NM_001165963.4(SCN1A):c.4978_4979CT[1]:p.Phe1661fs	coding	Pathogenic
2	165992305	CG	C	G165992307A	SCN1A	NM_001165963.4(SCN1A):c.4969del:p.Arg1657fs	coding	Pathogenic
2	165992309	TCC	T	C165992312T	SCN1A	NM_006920.6(SCN1A):c.4931_4932del:p.Gly1644fs	coding	Pathogenic
2	165992378	T	TA	G165992380A	SCN1A	NM_001165963.4(SCN1A):c.4896dup:p.Thr1633fs	coding	Pathogenic
2	165992391	A	ATACTT	T165992398A	SCN1A	NM_001165963.4(SCN1A):c.4879_4883dup:p.Tyr1628Ter	coding	Pathogenic
2	165992644	T	TA	T165992646A	SCN1A	NM_006920.6(SCN1A):c.4820-223dup	noncoding	Benign
2	165994167	C	CCA	A165994172C	SCN1A	NM_001165963.4(SCN1A):c.4827_4828TG[3]:p.Val1611fs	coding	Pathogenic
2	165994174	AT	A	T165994175C	SCN1A	NM_001165963.4(SCN1A):c.4823del:p.Asp1608fs	coding	Pathogenic
2	165994176	CAA	C	A165994180T	SCN1A	NM_001165963.4(SCN1A):c.4820_4821del:p.Ile1606_Phe1607insTer	coding	Pathogenic
2	165994176	CA	C	A165994181T	SCN1A	NM_001165963.4(SCN1A):c.4821del:p.Phe1607fs	coding	Pathogenic
2	165994185	TC	T	C165994187A	SCN1A	NM_001165963.4(SCN1A):c.4812del:p.Gly1603_Trp1604insTer	coding	Pathogenic
2	165994205	TAATG	T	A165994206G	SCN1A	NM_001165963.4(SCN1A):c.4789_4792del:p.His1597fs	coding	Pathogenic
2	165994219	GAT	G	A165994220G	SCN1A	NM_001165963.4(SCN1A):c.4777_4778del:p.Ile1593fs	coding	Pathogenic
2	165994305	GGTCAT	G	G165994306C	SCN1A	NM_001165963.4(SCN1A):c.4688_4692del:p.Asp1563fs	coding	Pathogenic
2	165994352	A	ATCATGATGCTTATGTCAAAAACTTGTCTGGTTACG	A165994388T	SCN1A	NM_001165963.4(SCN1A):c.4611_4645dup:p.Ile1549delinsThrTer	coding	Pathogenic
2	165994387	G	GA	G165994390A	SCN1A	NM_001165963.4(SCN1A):c.4610dup:p.Val1538fs	coding	Pathogenic
2	165996010	TA	T	A165996011C	SCN1A	NM_006920.6(SCN1A):c.4548+2del	noncoding	Pathogenic
2	165996022	AG	A	G165996024T	SCN1A	NM_001165963.4(SCN1A):c.4571del:p.Pro1524fs	coding	Pathogenic
2	165996028	AG	A	G165996030C	SCN1A	NM_001165963.4(SCN1A):c.4565del:p.Pro1522fs	coding	Pathogenic
2	165996031	CT	C	T165996035G	SCN1A	NM_001165963.4(SCN1A):c.4562del:p.Lys1521fs	coding	Pathogenic
2	165996039	G	GT	C165996046T	SCN1A	NM_001165963.4(SCN1A):c.4554dup:p.Pro1519fs	coding	Pathogenic
2	165996039	GT	G	T165996045C	SCN1A	NM_001165963.4(SCN1A):c.4554del:p.Lys1518fs	coding	Pathogenic
2	165996045	TC	T	C165996046G	SCN1A	NM_001165963.4(SCN1A):c.4548del:p.Lys1518fs	coding	Pathogenic
2	165996054	A	AT	C165996061T	SCN1A	NM_006920.6(SCN1A):c.4506dup:p.Leu1503fs	coding	Pathogenic
2	165996062	AT	A	T165996064G	SCN1A	NM_001165963.4(SCN1A):c.4531del:p.Ala1510_Met1511insTer	coding	Pathogenic
2	165996103	GT	G	T165996104C	SCN1A	NM_006920.6(SCN1A):c.4457del:p.Asp1486fs	coding	Pathogenic
2	165998051	TG	T	G165998053T	SCN1A	NM_001165963.4(SCN1A):c.4462del:p.Gln1488fs	coding	Pathogenic
2	165998060	TTATC	T	C165998064G	SCN1A	NM_001165963.4(SCN1A):c.4450_4453del:p.Asp1484fs	coding	Pathogenic
2	165998069	A	AT	G165998071T	SCN1A	NM_006920.6(SCN1A):c.4411dup:p.Ile1471fs	coding	Pathogenic
2	165998141	TA	T	A165998142C	SCN1A	NM_001165963.4(SCN1A):c.4372del:p.Tyr1458fs	coding	Pathogenic
2	165999742	GC	G	C165999743A	SCN1A	NM_001165963.4(SCN1A):c.4318del:p.Ala1440fs	coding	Pathogenic
2	166002483	AAGAG	A	G166002487T	SCN1A	NM_001165963.4(SCN1A):c.4267_4268CT[1]:p.Ser1424fs	coding	Pathogenic
2	166002510	CAA	C	A166002512G	SCN1A	NM_001165963.4(SCN1A):c.4244_4245del:p.Asn1414_Phe1415insTer	coding	Pathogenic
2	166002519	CT	C	T166002522C	SCN1A	NM_001165963.4(SCN1A):c.4236del:p.Lys1412_Val1413insTer	coding	Pathogenic
2	166002539	G	GC	A166002541C	SCN1A	NM_001165963.4(SCN1A):c.4216dup:p.Ala1406fs	coding	Pathogenic
2	166002547	ATTTC	A	T166002553A	SCN1A;LOC102724058	NM_001165963.4(SCN1A):c.4201_4204GAAA[1]:p.Arg1402fs	coding	Pathogenic
2	166002569	CAATCAGTATGATT	C	A166002571T	SCN1A	NM_001165963.4(SCN1A):c.4174_4186del:p.Asn1392fs	coding	Pathogenic
2	166002573	CAG	C	A166002574T	SCN1A	NM_001165963.4(SCN1A):c.4181_4182del:p.Thr1394fs	coding	Pathogenic
2	166002576	TATG	CA	T166002576C	SCN1A	NM_001165963.4(SCN1A):c.4177_4180delinsTG:p.His1393fs	coding	Pathogenic
2	166002589	GT	G	T166002590C	SCN1A	NM_001165963.4(SCN1A):c.4166del:p.Asp1389fs	coding	Pathogenic
2	166002593	TCGATG	ATTAGTTTTAGGCAATCAGTATGATTAT	T166002593A	SCN1A	NM_001165963.4(SCN1A):c.4158_4163delinsATAATCATACTGATTGCCTAAAACTAAT:p.Asp1386_Glu1388delinsGluTer	coding	Pathogenic
2	166002595	GA	G	A166002596T	SCN1A	NM_001165963.4(SCN1A):c.4160del:p.Ile1387fs	coding	Pathogenic
2	166002614	GT	G	T166002616G	SCN1A	NM_001165963.4(SCN1A):c.4141del:p.Thr1381fs	coding	Pathogenic
2	166002719	GATGGAATTGCTCCTAAAAGGGCATTCACAACCACCTAATACACAA	G	T166002726A	SCN1A	NM_006920.6(SCN1A):c.3970-11_4003del	coding	Pathogenic
2	166002727	TG	T	G166002728C	SCN1A	NM_001165963.4(SCN1A):c.4028del:p.Ala1343fs	coding	Pathogenic
2	166002740	G	GCAT	T166002744C	SCN1A	NM_006920.6(SCN1A):c.3980_3982dup:p.Ala1328_Leu1329insAsp	coding	Pathogenic
2	166003072	G	GTTGT	A166003075G	SCN1A	NM_006920.6(SCN1A):c.3970-320_3970-319insAAAC	noncoding	Benign
2	166009723	AT	A	T166009724C	SCN1A	NM_001165963.4(SCN1A):c.3997del:p.Gly1332_Met1333insTer	coding	Pathogenic
2	166009744	GCTCTTAGAGGT	G	T166009748A	SCN1A	NM_001165963.4(SCN1A):c.3966_3976del:p.Arg1322fs	coding	Pathogenic
2	166009745	CTCTTAGAGGTCTCAGAGCTCTTAG	C	C166009747G	SCN1A	NM_001165963.4(SCN1A):c.3952_3975del:p.Leu1318_Arg1325del	coding	Pathogenic
2	166009749	T	TA	G166009751A	SCN1A	NM_001165963.4(SCN1A):c.3971dup:p.Arg1325fs	coding	Pathogenic
2	166009749	T	TAG	G166009754A	SCN1A	NM_001165963.4(SCN1A):c.3968_3969CT[3]:p.Leu1324_Arg1325insTer	coding	Pathogenic
2	166009762	GCT	G	C166009765T	SCN1A;LOC102724058	NM_001165963.4(SCN1A):c.3955_3956AG[1]:p.Arg1319fs	coding	Pathogenic
2	166009775	TGA	T	G166009780T	SCN1A	NM_001165963.4(SCN1A):c.3940_3941TC[2]:p.Leu1315fs	coding	Pathogenic
2	166009822	GT	G	T166009824A	SCN1A	NM_001165963.4(SCN1A):c.3898del:p.Thr1300fs	coding	Pathogenic
2	166012110	TC	T	C166012111A	SCN1A	NM_001165963.4(SCN1A):c.3877del:p.Asp1293fs	coding	Pathogenic
2	166012134	C	CA	C166012136A	SCN1A	NM_001165963.4(SCN1A):c.3853dup:p.Cys1285fs	coding	Pathogenic
2	166012135	AC	A	C166012137A	SCN1A	NM_001165963.4(SCN1A):c.3852del:p.Trp1284fs	coding	Pathogenic
2	166012152	TA	T	A166012153T	SCN1A	NM_001165963.4(SCN1A):c.3835del:p.Tyr1279fs	coding	Pathogenic
2	166012175	CCATTTTAGAAG	C	T166012181C	SCN1A	NM_001165963.4(SCN1A):c.3802_3812del:p.Leu1268fs	coding	Pathogenic
2	166012190	TTCCAGAATGAAAA	T	C166012192G	SCN1A	NM_001165963.4(SCN1A):c.3785_3797del:p.Ile1262fs	coding	Pathogenic
2	166012211	G	GA	C166012216A	SCN1A	NM_001165963.4(SCN1A):c.3776dup:p.Thr1260fs	coding	Pathogenic
2	166012224	G	GCATATTC	A166012234T	SCN1A	NM_006920.6(SCN1A):c.3724_3730dup:p.Ala1244fs	coding	Pathogenic
2	166012261	CAATA	C	A166012262T	SCN1A	NM_001165963.4(SCN1A):c.3723_3726del:p.Ile1240_Tyr1241insTer	coding	Pathogenic
2	166012261	CA	C	A166012263T	SCN1A	NM_006920.6(SCN1A):c.3693del:p.Ile1231fs	coding	Pathogenic
2	166012261	C	CAT	A166012263T	SCN1A	NM_001165963.4(SCN1A):c.3726_3727insAT:p.Asp1243fs	coding	Pathogenic
2	166012262	A	AAT	C166012273A	SCN1A	NM_001165963.4(SCN1A):c.3716_3717AT[6]:p.Asp1243fs	coding	Pathogenic
2	166012270	T	TA	T166012272A	SCN1A;LOC102724058	NM_001165963.4(SCN1A):c.3717dup:p.Ile1240fs	coding	Pathogenic
2	166013744	CA	C	A166013745G	SCN1A	NM_001165963.4(SCN1A):c.3704del:p.Leu1235fs	coding	Pathogenic
2	166013758	T	TA	G166013761A	SCN1A	NM_001165963.4(SCN1A):c.3690dup:p.Ser1231Ter	coding	Pathogenic
2	166013813	GA	T	G166013813T	SCN1A	NM_001165963.4(SCN1A):c.3635_3636delinsA:p.Phe1212fs	coding	Pathogenic
2	166013817	C	CA	C166013819A	SCN1A	NM_001165963.4(SCN1A):c.3631dup:p.Cys1211fs	coding	Pathogenic
2	166013818	ACGTC	A	G166013820T	SCN1A;LOC102724058	NM_001165963.4(SCN1A):c.3627_3630del:p.Arg1209fs	coding	Pathogenic
2	166013839	AT	A	T166013841G	SCN1A	NM_001165963.4(SCN1A):c.3609del:p.Gln1203fs	coding	Pathogenic
2	166013879	C	CT	G166013882T	SCN1A;LOC102724058	NM_001165963.4(SCN1A):c.3569dup:p.Cys1191fs	coding	Pathogenic
2	166013895	CA	C	A166013896G	SCN1A	NM_001165963.4(SCN1A):c.3553del:p.Cys1185fs	coding	Pathogenic
2	166015622	C	CTTCT	G166015627T	SCN1A	NM_006920.6(SCN1A):c.3498_3501dup:p.Ala1168fs	coding	Pathogenic
2	166015639	T	TC	T166015641C	SCN1A	NM_001165963.4(SCN1A):c.3517dup:p.Glu1173fs	coding	Pathogenic
2	166015669	AC	A	C166015670A	SCN1A	NM_001165963.4(SCN1A):c.3487del:p.Pro1162_Val1163insTer	coding	Pathogenic
2	166015679	CG	C	G166015680A	SCN1A	NM_001165963.4(SCN1A):c.3477del:p.Ile1159fs	coding	Pathogenic
2	166015724	GTT	G	T166015726C	SCN1A	NM_001165963.4(SCN1A):c.3431_3432del:p.Lys1144fs	coding	Pathogenic
2	166036050	CTT	C	T166036052G	SCN1A	NM_001165963.4(SCN1A):c.3425_3426del:p.Lys1142fs	coding	Pathogenic
2	166036067	TC	T	C166036069G	SCN1A	NM_001165963.4(SCN1A):c.3409del:p.Asp1137fs	coding	Pathogenic
2	166036099	A	AT	C166036104T	SCN1A	NM_001165963.4(SCN1A):c.3377dup:p.Asn1126fs	coding	Pathogenic
2	166036104	CAA	C	A166036106G	SCN1A	NM_001165963.4(SCN1A):c.3371_3372del:p.Asp1123_Phe1124insTer	coding	Pathogenic
2	166036125	CA	C	A166036127T	SCN1A;LOC102724058	NM_001165963.4(SCN1A):c.3351del:p.Ile1117fs	coding	Pathogenic
2	166036132	TAC	T	C166036134G	SCN1A	NM_001165963.4(SCN1A):c.3343_3344del:p.Val1115fs	coding	Pathogenic
2	166036149	T	TG	T166036154G	SCN1A	NM_001165963.4(SCN1A):c.3327dup:p.Ser1110fs	coding	Pathogenic
2	166036171	GT	G	T166036172A	SCN1A	NM_001165963.4(SCN1A):c.3305del:p.Tyr1102fs	coding	Pathogenic
2	166036184	TC	T	C166036185A	SCN1A	NM_001165963.4(SCN1A):c.3292del:p.Asp1098fs	coding	Pathogenic
2	166036194	AT	A	T166036199C	SCN1A	NM_006920.6(SCN1A):c.3249del:p.Lys1083fs	coding	Pathogenic
2	166036208	C	CT	G166036210T	SCN1A	NM_001165963.4(SCN1A):c.3268dup:p.Ser1090fs	coding	Pathogenic
2	166036214	G	GTTCCTATACCACTTGTAGTTCCATTTACATCTTT	A166036249T	SCN1A	NM_001165963.4(SCN1A):c.3229_3262dup:p.Thr1088fs	coding	Pathogenic
2	166036271	ATTTCTGCTGTATGATTGGACATACAACTGTCTTTCTTGTTGTTTAGATCATCAAGTGGTTTAATTTCATCTAAAATCTTTTGTTTCCTAATGAAGGACTGTTGAATAAATTCATATATTTTTCTTTTCACATAAGCTACTCCTTTGTGCATCCTATCCACAGCAATTTGGAGATTATTCATTTCATTATCATCATCAGTGGCTGCAAGGTTGTCTGCACTAAATGAGCTCAGAAGCAAGGCCAGAAAGAGATTCAGGACCTTAAAAACAACAAAAACATGATTATAATTTTACACCAATGTAGGGAAGAGCAGATTACAATCACTTATTCTTTCTTTTAAGTGTGGAAAAAACTCTAAGTTCTAAAACTTGATGAGAAGGAAACACCACAGCATAGTGATTAGAAGATGGGTGATCTGAATTTGTGACTGGCTCAATAGCACATCCTTGGACAAAGACATGATTTCTGTTGCTCTCAAGTTCTCCCATTCGTAAAGTGAAATTGAATGAGCTAATCTAAGGTTTTGTTAACTCTAAAATTGTATGAGTAGAAGAAAACAGATTTATATGTGTACAATACGAGAATTCTTAAAAATCACTAATGTTTCCAAGTATGCATTTAAATGCATTCTATAATTTTTCAATAAACAAAGATATTAAATTGGATGTCAATTGAAAAATAACCATTACAACTCAGAATGAAGATTAGGAGCTTAACATAGGCTGACACTTGTTTTCTTAATCTATTATATTTCTCATACTTCATTGTTGACTAAGTAGAGCTGTTTATGAATAATCTCTCATATTTCCATGAGACTGGCACATGAATGTACATACCTTTAGAATATTTTATGTATTACTATACTATAAACAGTAACACTCCAAATTTAAGAGAGATAAAGATTGATCAGTTACTCCATTATGGTAATCTCAGGCATCATTAGCCATTCGAGAACTGATGAACTCAGGTTGGCTAGTGCATCTGCCATATGACATAGAGTGATTGAATATCATATGCTGCAATGGGGCAAAGAAATGGCACAAGCATTATGAACTCTTAAAGACACCACTTTTTAGTCCTAGTCTGGATGGTAATTTTGCACTTTCTCTCTACTTTTTTTAGACTTCTCTCTTCCTTGGCTCTGAATTTATAAAATGGTCCCAGCACATCCTTTTAGGCTCATCTCAATATGATACTCTATTGTAATTCACATAAAAAATGTGATAAAGTGACTGACAAAATAGAATTTGGTATAAAAAATGCAGGGGCACTGCTATATTGCTGTGTTGTTAAAGTGATAATATATCCAAGGTAATGGACTTTTAAACCAATAATCATAGTTTGTTTTTCTTTTTGACAAAACAGTCACCATTAAATTATACTCTTTTTTTTTATTATACTTTAAGTTTTAGGGTACATGTGCACAATGTGCAGGTTAGTTACATATGTATACATGTGCCATGCTGGTGTATTTCCAAAATGCATATCTTAAGTGGGTACATACCACTAGGTTTCCAATCACCATGACCATCATGAAGACAGTAAGGCACATGGCTTGACCAGCAACCTCCATACAGTCCCACATGGTCTCTATCCACTCCCCACACAGCACGCGGAACACAATCAGGAAGGAGTGGAAGAAGTCATTCATGTGCCAGCGTGGGAGTTGACAATCACTGGCGATCTTGCAGACACAATCTTTGTAGCTTTTACCAAAGAGCTGCATGCCGACCACGGCAAAAATGAAGACGATGATGGCCAAGACGAGGGTTAAATTTCCCAGAGCCCCCACGGAATTGCCGATGATCTTTATTAGCATATTTAACGTTGGCCAA	TTTTGCCAACTT	A166036271T	SCN1A	NM_006920.6(SCN1A):c.2583_3173delinsAAGTTGGCAAAA:p.Trp862_Ile1058delinsSerTrpGlnAsn	coding	Pathogenic
2	166036280	GTA	G	A166036282G	SCN1A	NM_001165963.4(SCN1A):c.3195_3196del:p.Thr1066fs	coding	Pathogenic
2	166036296	A	AT	A166036297T	SCN1A	NM_001165963.4(SCN1A):c.3180_3181insA:p.Cys1061fs	coding	Pathogenic
2	166036300	GTCTT	G	T166036305G	SCN1A	NM_001165963.4(SCN1A):c.3173_3176del:p.Lys1058fs	coding	Pathogenic
2	166036366	GGACTGTT	G	C166036369A	SCN1A	NM_001165963.4(SCN1A):c.3104_3110del:p.Gln1035fs	coding	Pathogenic
2	166036369	CTG	C	G166036371T	SCN1A	NM_001165963.4(SCN1A):c.3106_3107del:p.Gln1036fs	coding	Pathogenic
2	166036394	CT	C	T166036398C	SCN1A	NM_001165963.4(SCN1A):c.3082del:p.Arg1028fs	coding	Pathogenic
2	166036410	CTCCTT	C	C166036412G	SCN1A	NM_001165963.4(SCN1A):c.3062_3066del:p.Lys1021fs	coding	Pathogenic
2	166036459	AT	A	T166036460C	SCN1A	NM_001165963.4(SCN1A):c.3017del:p.Asp1006fs	coding	Pathogenic
2	166036460	TC	T	C166036461A	SCN1A	NM_001165963.4(SCN1A):c.3016del:p.Asp1006fs	coding	Pathogenic
2	166036482	TG	T	G166036483T	SCN1A	NM_001165963.4(SCN1A):c.2994del:p.Asp998fs	coding	Pathogenic
2	166036495	TGA	T	A166036497C	SCN1A	NM_001165963.4(SCN1A):c.2980_2981del:p.Ser994fs	coding	Pathogenic
2	166036501	C	CA	G166036503A	SCN1A	NM_001165963.4(SCN1A):c.2975dup:p.Ser993fs	coding	Pathogenic
2	166036515	GA	G	A166036518G	SCN1A	NM_006920.6(SCN1A):c.2928del:p.Leu977fs	coding	Pathogenic
2	166036529	AC	A	C166036531T	SCN1A	NM_001165963.4(SCN1A):c.2947del	coding	Pathogenic
2	166037773	TAC	T	A166037774C	SCN1A	NM_006920.6(SCN1A):c.2913+1_2913+2del	noncoding	Pathogenic
2	166037773	T	TAC	C166037776A	SCN1A	NM_006920.6(SCN1A):c.2913+1_2913+2dup	noncoding	Pathogenic
2	166037829	GACCAGCAACC	G	A166037830T	SCN1A	NM_001165963.4(SCN1A):c.2883_2892del:p.Glu961fs	coding	Pathogenic
2	166037840	TCCATACAGTC	T	T166037844C	SCN1A	NM_001165963.4(SCN1A):c.2872_2881del:p.Asp958fs	coding	Pathogenic
2	166037870	TC	T	C166037874A	SCN1A	NM_001165963.4(SCN1A):c.2851del:p.Glu951fs	coding	Pathogenic
2	166037962	GAC	G	C166037966A	SCN1A	NM_006920.6(SCN1A):c.2723_2724GT[1]:p.Val909fs	coding	Pathogenic
2	166038027	TGGCCAAGAC	T	G166038029A	SCN1A	NM_001165963.4(SCN1A):c.2686_2694del:p.Val896_Ala898del	coding	Pathogenic
2	166038041	G	GT	A166038044T	SCN1A	NM_001165963.4(SCN1A):c.2680dup:p.Thr894fs	coding	Pathogenic
2	166038056	GC	G	C166038061A	SCN1A	NM_001165963.4(SCN1A):c.2665del:p.Ala889fs	coding	Pathogenic
2	166038118	CT	C	T166038120G	SCN1A	NM_001165963.4(SCN1A):c.2603del:p.Lys868fs	coding	Pathogenic
2	166039442	AC	A	C166039443A	SCN1A	NM_001165963.4(SCN1A):c.2569del:p.Val857fs	coding	Pathogenic
2	166039443	C	CAGAT	A166039449G	SCN1A	NM_001165963.4(SCN1A):c.2565_2568dup:p.Val857fs	coding	Pathogenic
2	166039487	AGC	A	C166039489T	SCN1A	NM_001165963.4(SCN1A):c.2523_2524del:p.Thr841_Leu842insTer	coding	Pathogenic
2	166039513	A	AT	C166039516T	SCN1A	NM_001165963.4(SCN1A):c.2498dup:p.Asn833fs	coding	Pathogenic
2	166039551	C	CA	T166039554A	SCN1A	NM_001165963.4(SCN1A):c.2460dup:p.Ala821fs	coding	Pathogenic
2	166039591	G	GA	C166039596A	SCN1A	NM_001165963.4(SCN1A):c.2420dup:p.Thr808fs	coding	Pathogenic
2	166041234	GTTTCCTACTGTAAGCACAT	G	T166041236A	SCN1A	NM_001165963.4(SCN1A):c.2393_2411del:p.Asn798fs	coding	Pathogenic
2	166041294	GAA	G	A166041297G	SCN1A	NM_001165963.4(SCN1A):c.2350_2351del:p.Phe784fs	coding	Pathogenic/Likely_pathogenic
2	166041306	T	TATA	A166041308T	SCN1A	NM_001165963.4(SCN1A):c.2339_2340insTAT:p.Leu780delinsPheIle	coding	Pathogenic
2	166041311	C	CAATACAAGGGGAA	G166041318A	SCN1A	NM_001165963.4(SCN1A):c.2334_2335insTTCCCCTTGTATT:p.Val779fs	coding	Pathogenic
2	166041314	TA	T	A166041315C	SCN1A	NM_001165963.4(SCN1A):c.2331del:p.Ile776_Cys777insTer	coding	Pathogenic
2	166041327	G	GA	G166041328A	SCN1A	NM_001165963.4(SCN1A):c.2318_2319insT:p.Ile774fs	coding	Pathogenic
2	166041343	G	GGGTC	C166041348G	SCN1A	NM_001165963.4(SCN1A):c.2299_2302dup:p.Pro768fs	coding	Pathogenic
2	166041350	TC	T	C166041351A	SCN1A	NM_001165963.4(SCN1A):c.2295del:p.Met766fs	coding	Pathogenic
2	166041377	CT	C	T166041381A	SCN1A	NM_001165963.4(SCN1A):c.2268del:p.Lys756_Val757insTer	coding	Pathogenic
2	166041412	AAT	A	A166041415G	SCN1A	NM_001165963.4(SCN1A):c.2230_2231AT[1]:p.Phe745fs	coding	Pathogenic
2	166041436	CAG	C	A166041437G	SCN1A	NM_001165963.4(SCN1A):c.2208_2209del:p.Cys737fs	coding	Pathogenic
2	166041479	G	GA	G166041494A	SCN1A	NM_006920.6(SCN1A):c.2144-24dup	noncoding	Benign
2	166042295	CT	C	T166042296A	SCN1A	NM_006920.6(SCN1A):c.2139del:p.Glu714fs	coding	Pathogenic
2	166042317	GGCTA	G	G166042318T	SCN1A	NM_006920.6(SCN1A):c.2114_2117del:p.Ile705fs	coding	Pathogenic
2	166042367	TG	T	G166042369A	SCN1A	NM_001165963.4(SCN1A):c.2100del:p.Met701fs	coding	Pathogenic
2	166042428	TA	T	A166042437T	SCN1A	NM_006920.6(SCN1A):c.2011-5del	noncoding	Benign/Likely_benign
2	166043773	AATCCACAG	T	A166043773T	SCN1A	NM_001165963.4(SCN1A):c.1931_1939delinsA:p.Thr644fs	coding	Pathogenic
2	166043823	C	CG	A166043827G	SCN1A	NM_001165963.4(SCN1A):c.1888dup:p.Arg630fs	coding	Pathogenic
2	166043832	C	CT	A166043834T	SCN1A	NM_001165963.4(SCN1A):c.1879dup:p.Arg627fs	coding	Pathogenic
2	166043857	TGC	T	C166043859T	SCN1A	NM_001165963.4(SCN1A):c.1853_1854del:p.Arg618fs	coding	Pathogenic
2	166043859	CG	C	G166043860T	SCN1A	NM_001165963.4(SCN1A):c.1852del:p.Arg618fs	coding	Pathogenic
2	166043860	G	GTC	C166043869T	SCN1A	NM_001165963.4(SCN1A):c.1844_1845GA[5]:p.Arg618fs	coding	Pathogenic
2	166043860	GTCTCTCTCCGTG	ACCTGAGTGCACAAACAAGGAATC	G166043860A	SCN1A	NM_001165963.4(SCN1A):c.1840_1852delinsGATTCCTTGTTTGTGCACTCAGGT:p.His614fs	coding	Pathogenic
2	166043872	GT	G	T166043873C	SCN1A	NM_001165963.4(SCN1A):c.1839del:p.His614fs	coding	Pathogenic
2	166043889	AAGGAATCTCT	A	G166043891C	SCN1A	NM_001165963.4(SCN1A):c.1813_1822del:p.Arg605fs	coding	Pathogenic
2	166043892	GA	G	A166043894T	SCN1A	NM_001165963.4(SCN1A):c.1819del:p.Ser607fs	coding	Pathogenic
2	166043908	C	CGTTATCCT	C166043917G	SCN1A	NM_001165963.4(SCN1A):c.1796_1803dup:p.Glu602fs	coding	Pathogenic
2	166043969	T	TGCTC	C166043976T	SCN1A	NM_001165963.4(SCN1A):c.1739_1742dup:p.Lys582fs	coding	Pathogenic
2	166043973	C	CG	C166043975G	SCN1A	NM_001165963.4(SCN1A):c.1738dup:p.Arg580fs	coding	Pathogenic
2	166044044	CA	C	A166044047G	SCN1A	NM_001165963.4(SCN1A):c.1667del:p.Leu556fs	coding	Pathogenic
2	166045044	T	TG	T166045047G	SCN1A	NM_001165963.4(SCN1A):c.1660dup:p.Gln554fs	coding	Pathogenic
2	166045069	CAT	C	A166045072G	SCN1A	NM_001165963.4(SCN1A):c.1634_1635del:p.Thr544_Tyr545insTer	coding	Pathogenic
2	166045106	AC	A	C166045108T	SCN1A	NM_001165963.4(SCN1A):c.1598del:p.Gly533fs	coding	Pathogenic
2	166045116	CTGATG	C	T166045117C	SCN1A	NM_001165963.4(SCN1A):c.1584_1588del:p.Ser528fs	coding	Pathogenic
2	166045123	TGTCCTCA	T	T166045125A	SCN1A	NM_001165963.4(SCN1A):c.1575_1581del:p.Glu526fs	coding	Pathogenic
2	166045138	A	AT	G166045144T	SCN1A	NM_006920.6(SCN1A):c.1566dup:p.Ser523fs	coding	Pathogenic
2	166045165	CT	C	T166045167C	SCN1A	NM_006920.6(SCN1A):c.1539del:p.Glu514fs	coding	Pathogenic
2	166045167	T	TC	A166045172C	SCN1A	NM_001165963.4(SCN1A):c.1537dup:p.Glu513fs	coding	Pathogenic
2	166045182	TCTTTC	T	C166045183T	SCN1A	NM_001165963.4(SCN1A):c.1518_1522del:p.Lys507fs	coding	Pathogenic
2	166045185	TTC	T	C166045187G	SCN1A	NM_001165963.4(SCN1A):c.1518_1519del:p.Lys507fs	coding	Pathogenic
2	166045189	GTTTTC	G	T166045197C	SCN1A	NM_001165963.4(SCN1A):c.1506_1510GAAAA[1]:p.Arg504fs	coding	Pathogenic
2	166045215	CT	C	T166045218C	SCN1A	NM_001165963.4(SCN1A):c.1489del:p.Arg497fs	coding	Pathogenic
2	166045238	CAACTT	C	A166045240G	SCN1A	NM_001165963.4(SCN1A):c.1462_1466del:p.Lys488fs	coding	Pathogenic
2	166045241	CT	C	T166045243A	SCN1A	NM_006920.6(SCN1A):c.1463del:p.Lys488fs	coding	Pathogenic
2	166045259	GCTGT	G	T166045263A	SCN1A	NM_001165963.4(SCN1A):c.1442_1445del:p.Asp481fs	coding	Pathogenic
2	166045274	GC	G	C166045276T	SCN1A	NM_001165963.4(SCN1A):c.1430del:p.Gly477fs	coding	Pathogenic
2	166045278	GC	G	C166045279T	SCN1A	NM_006920.6(SCN1A):c.1426del:p.Ala476fs	coding	Pathogenic
2	166046768	AC	A	C166046770T	SCN1A	NM_006920.6(SCN1A):c.1377+1del	noncoding	Pathogenic
2	166046799	GT	G	T166046801C	SCN1A	NM_001165963.4(SCN1A):c.1347del:p.Glu449fs	coding	Pathogenic
2	166046802	C	CA	T166046805A	SCN1A	NM_001165963.4(SCN1A):c.1344dup:p.Glu449Ter	coding	Pathogenic
2	166046845	CA	C	A166046847G	SCN1A	NM_001165963.4(SCN1A):c.1301del:p.Leu434fs	coding	Pathogenic
2	166046850	TG	T	G166046852C	SCN1A	NM_001165963.4(SCN1A):c.1296del:p.Thr433fs	coding	Pathogenic
2	166046877	TG	T	G166046879C	SCN1A	NM_001165963.4(SCN1A):c.1269del:p.Met424fs	coding	Pathogenic
2	166046899	A	ATCTAC	T166046901C	SCN1A	NM_001165963.4(SCN1A):c.1247_1248insGTAGA:p.Asn416delinsLysTer	coding	Pathogenic
2	166046916	AG	A	G166046917C	SCN1A	NM_001165963.4(SCN1A):c.1230del:p.Ser411fs	coding	Pathogenic
2	166046948	ATG	A	G166046950A	SCN1A	NM_001165963.4(SCN1A):c.1197_1198del:p.Met400fs	coding	Pathogenic
2	166046954	GT	G	T166046958C	SCN1A	NM_001165963.4(SCN1A):c.1192del:p.Thr398fs	coding	Pathogenic
2	166046962	AGC	A	G166046963A	SCN1A	NM_001165963.4(SCN1A):c.1183_1184del:p.Ala395fs	coding	Pathogenic
2	166046964	C	CT	A166046965T	SCN1A	NM_001165963.4(SCN1A):c.1182_1183insA:p.Ala395fs	coding	Pathogenic
2	166046969	CG	C	G166046970T	SCN1A	NM_001165963.4(SCN1A):c.1177del:p.Arg393fs	coding	Pathogenic
2	166046984	CAA	C	A166046988T	SCN1A	NM_006920.6(SCN1A):c.1171-10_1171-9del	noncoding	Benign/Likely_benign
2	166047633	A	CC	A166047633C	SCN1A	NM_001165963.4(SCN1A):c.1164delinsGG:p.Tyr388Ter	coding	Pathogenic
2	166047634	TA	T	A166047637G	SCN1A	NM_001165963.4(SCN1A):c.1162del:p.Tyr388fs	coding	Pathogenic
2	166047649	A	AAGTCCTGAGTCATT	G166047668C	SCN1A	NM_001165963.4(SCN1A):c.1134_1147dup:p.Phe383Ter	coding	Pathogenic
2	166047657	AG	A	G166047658T	SCN1A	NM_001165963.4(SCN1A):c.1139del:p.Thr380fs	coding	Pathogenic
2	166047663	TA	T	A166047664G	SCN1A	NM_001165963.4(SCN1A):c.1133del:p.Leu378fs	coding	Pathogenic
2	166047677	AC	A	C166047678A	SCN1A	NM_001165963.4(SCN1A):c.1119del:p.Leu373fs	coding	Pathogenic
2	166047678	CA	C	A166047684G	SCN1A	NM_001165963.4(SCN1A):c.1118del:p.Leu373fs	coding	Pathogenic
2	166047678	C	CA	G166047685A	SCN1A	NM_001165963.4(SCN1A):c.1118dup:p.Leu373fs	coding	Pathogenic
2	166047681	AAAAGCCCAACTGAAGGTATC	A	C166047687T	SCN1A	NM_001165963.4(SCN1A):c.1096_1115del:p.Asp366fs	coding	Pathogenic
2	166047740	TCA	T	C166047747T	SCN1A	NM_001165963.4(SCN1A):c.1049_1050TG[3]:p.Val352fs	coding	Pathogenic
2	166047743	C	CA	C166047745A	SCN1A	NM_001165963.4(SCN1A):c.1053dup:p.Val352fs	coding	Pathogenic
2	166048884	AC	A	C166048887T	SCN1A	NM_006920.6(SCN1A):c.1028+1del	noncoding	Pathogenic
2	166048921	T	TA	C166048928A	SCN1A	NM_001165963.4(SCN1A):c.992dup:p.Leu331fs	coding	Pathogenic
2	166048927	AC	A	C166048930T	SCN1A	NM_001165963.4(SCN1A):c.986del:p.Gly329fs	coding	Pathogenic
2	166048937	AAAT	A	A166048941G	SCN1A	NM_001165963.4(SCN1A):c.971_973ATT[1]:p.Tyr325del	coding	Pathogenic/Likely_pathogenic
2	166051316	GGGGTAGAAATACCAAATAAAATATAATTTTAAATATTGTTAAATAGTTTGATTAGGTAATTTTCTAAAAGATCACGTCTTGTTATGTAATCATTTAAAAATATTTTTCATTCCTAGATGGAAGGCACATTAGCAATGAAAAGACCAAATATACATGATAGTAATTCTTTTTTAGAGGGTGTTTTATTTATTTCATTAGTTTTAAATTTTAAATTTTAATTTTTGTGGGTACATGGTAGGTGTTTCTATATATGGGGTACATGAGATGTTTTGATACAGGCCTGCAATGTGTGCTAATCACATCATGTAAAATGGGATATCCAGCCCCTCAAGTATTTATCCTTTGTGTTACAAACAATCCAATTCTACTTTTTAAGGAAATGTACATAACAATAATTCTTACTTGAATCTTGAATATATGACTTCCAGTCAAACTCAAAGACAGTTTCATTTATAAGTGTACCATTATAATTCACAGTTATATTCTTTTCTATACTATGTTCCTCCAAGGAAGCATTGGTGGGAGGCCATTGTATACATTTATTCCTCAGGTTGCCCATGAACAGCTGCAGCCCAATTAGAGCAAATACGCTCAGACAGAACACAGTCAGGATCATTACATCTGAGAGCTTCTTCACAGACTGGATCAGGGCTCCCACAATGGTTTTCAGGCCTGAAAGAAAGAAGTCTATTACTATGAAGACTTAACACGTGTGAAATAATAAAAGCTTCACACAATTTTCTTGAAAACATAGATTTCATTCATAAATCCAAGAATGTTTGCAACGCTAGTGGAGAAGCAACACTTCATTGAAGGGGAAGAACTTATGAAGATAAACTCCAGAAATGTAATGATTTAAACAATGAAATGAAGATTCATATCCCATTATGTCGAGATAGAGTAATGGAAGGTTCATGTTCTTCATGGAGCCTATATTAAGGAAAGGGCCTTGTCTTTTTCCTTTTTGCTACTGAAACTTGTCTCATATTTTCATTAGGGTCAGAGGTCAGTTTTATAACAAAATACCTGAATAAATATTTTAAAATTCCTATTTATAAGTAGGAAAGATTTTGCTGTACAACCGAAAATGGTCTGCAGTATAATTGTGCCTTAAGATAATAAATCCTCCATGCAGACTCACACTATTCTTTATTGTCTTATTCCCTTCTCTTTTGTTAGCAAAAAACTTAGAAGATTTGCATTGTATACACATAGTCATTAATGACTCTAATGAATAAGAAATTACAGATTGGTACATTTAAAAGGGAGCAAATTCTCGATAAAACTAACATGGTGAAAAAAAAAAAAACCCATGATATTTGTAAGTGCAGGTCACCTTGACCTCAAATTACAGTATCTCACATAAGACATTGTTAAACTCCAAGGCTGATAAAGCTTATGTCTAAACAATAAGAATCATTTTCTTTGAAACACCTAGTCTTATGATTCCTGATTTTCTGTAAAACTGAATGTCAAGCAGAGAAGGATGCTGAATCACATGATGGGTCCGTCTCATTATCTAACCTTGCTCTCACCTGGAATGACTGAAATCGTCTTCAATGCTCGGAGAACTCT	G	G166051318A	SCN1A	NM_006920.6(SCN1A):c.655_964+402del	noncoding	Pathogenic
2	166051740	TC	T	C166051742A	SCN1A	NM_001165963.4(SCN1A):c.942del:p.Asp313_Trp314insTer	coding	Pathogenic
2	166051741	CCAGT	C	G166051744A	SCN1A	NM_001165963.4(SCN1A):c.938_941del:p.Asp313fs	coding	Pathogenic
2	166051751	T	TCA	A166051754C	SCN1A	NM_001165963.4(SCN1A):c.930_931dup:p.Glu311fs	coding	Pathogenic
2	166051777	AC	A	C166051779A	SCN1A	NM_006920.6(SCN1A):c.905del:p.Gly302fs	coding	Pathogenic
2	166051777	ACCATTATAAT	A	C166051778T	SCN1A	NM_001165963.4(SCN1A):c.896_905del:p.Asn299fs	coding	Pathogenic
2	166051788	TCA	T	C166051791G	SCN1A	NM_001165963.4(SCN1A):c.891_892TG[1]:p.Val298fs	coding	Pathogenic
2	166051852	AC	A	C166051853A	SCN1A	NM_001165963.4(SCN1A):c.830del:p.Cys277fs	coding	Pathogenic
2	166051857	T	TTATAC	A166051858T	SCN1A	NM_001165963.4(SCN1A):c.825_826insGTATA:p.Lys276delinsValTer	coding	Pathogenic
2	166051859	TTCCTCAGGTTGCCCATGAACAGCTGCAGCCCAATTAGAGCAAATACGCTCAGACAGAACACAGTCAGGATCATTACATCTGAGAGCTTCTTCACAGACTGGATCAGGGC	T	T166051863C	SCN1A	NM_001165963.4(SCN1A):c.715_823del:p.Ala239fs	coding	Pathogenic
2	166051867	G	GTTGCC	C166051873T	SCN1A	NM_001165963.4(SCN1A):c.811_815dup:p.Asn272fs	coding	Pathogenic
2	166051870	GC	G	C166051873A	SCN1A	NM_001165963.4(SCN1A):c.812del:p.Gly271fs	coding	Pathogenic
2	166051894	TAGAGCAA	T	G166051896T	SCN1A	NM_001165963.4(SCN1A):c.782_788del:p.Val260_Phe261insTer	coding	Pathogenic
2	166051916	AAC	A	C166051920G	SCN1A	NM_001165963.4(SCN1A):c.763_764GT[1]:p.Phe256fs	coding	Pathogenic
2	166051931	AT	A	T166051933A	SCN1A	NM_001165963.4(SCN1A):c.751del:p.Val250_Met251insTer	coding	Pathogenic
2	166051977	TG	T	G166051979T	SCN1A	NM_001165963.4(SCN1A):c.705del:p.Ile236fs	coding	Pathogenic
2	166051986	GGCCT	TTGTGG	G166051986T	SCN1A	NM_006920.6(SCN1A):c.695-2_697delinsCCACAA	coding	Pathogenic
2	166051987	GC	G	C166051989T	SCN1A	NC_000002.12:g.166051989del	coding	Pathogenic
2	166052856	A	AC	A166052857C	SCN1A	NM_001165963.4(SCN1A):c.689_690insG:p.Ile230fs	coding	Pathogenic
2	166052861	CT	C	T166052862G	SCN1A	NM_006920.6(SCN1A):c.684del:p.Val229fs	coding	Pathogenic
2	166052883	GAGAA	G	A166052884C	SCN1A	NM_001165963.4(SCN1A):c.659_662del:p.Val220fs	coding	Pathogenic
2	166052887	ACT	A	C166052890G	SCN1A	NM_001165963.4(SCN1A):c.655_656AG[1]:p.Arg219fs	coding	Pathogenic
2	166052896	GTTCTCAATGCCGA	TGTG	G166052896T	SCN1A	NM_001165963.4(SCN1A):c.637_650delinsCACA:p.Ser213fs	coding	Pathogenic
2	166052934	TGTGAC	T	G166052937A	SCN1A	NM_001165963.4(SCN1A):c.607_611del:p.Val203fs	coding	Pathogenic
2	166054630	G	GCA	T166054634A	SCN1A	NM_006920.6(SCN1A):c.602+6_602+7dup	noncoding	Benign
2	166054631	CACTTACGCAAATGTAATGACAGTGAAATCGAGCCAGTTCCATGGATCCCG	C	C166054633A	SCN1A	NM_006920.6(SCN1A):c.559_602+6del	noncoding	Pathogenic
2	166054637	CGCAAATGTAATGACAGTGAAATCGAGCCAGTTCCATGGATCCCGAAGGAAAGTAAAATCTTCTAAACAGAATCCCCTTGCAATAATTTTTATAAGTGATTCAAAAGTATATATTCCTGTGAAGGTGTAT	C	G166054638C	SCN1A	NM_001165963.4(SCN1A):c.474_602del:p.Thr160_Tyr202del	coding	Pathogenic
2	166054639	C	CA	T166054643A	SCN1A	NM_001165963.4(SCN1A):c.600dup:p.Ala201fs	coding	Pathogenic
2	166054645	TA	T	A166054647T	SCN1A	NM_001165963.4(SCN1A):c.594del:p.Thr199fs	coding	Pathogenic
2	166054648	TG	T	G166054649A	SCN1A	NM_001165963.4(SCN1A):c.591del:p.Ile198fs	coding	Pathogenic
2	166054673	TG	T	G166054675A	SCN1A	NM_001165963.4(SCN1A):c.566del:p.Pro189fs	coding	Pathogenic
2	166054690	T	TA	T166054695A	SCN1A	NM_001165963.4(SCN1A):c.549dup:p.Thr184fs	coding	Pathogenic
2	166054743	GTA	G	A166054749T	SCN1A	NM_001165963.4(SCN1A):c.495_496del:p.Thr166fs	coding	Pathogenic
2	166054743	GTATATATTCC	G	A166054745G	SCN1A	NM_006920.6(SCN1A):c.487_496del:p.Gly163fs	coding	Pathogenic
2	166054763	GT	G	T166054764A	SCN1A	NM_001165963.4(SCN1A):c.476del:p.Tyr159fs	coding	Pathogenic
2	166056429	T	TC	A166056431C	SCN1A	NM_001165963.4(SCN1A):c.454dup:p.Asp152fs	coding	Pathogenic
2	166056441	CT	C	T166056442C	SCN1A	NM_001165963.4(SCN1A):c.442del:p.Ser148fs	coding	Pathogenic
2	166056453	AAC	A	C166056459G	SCN1A	NM_001165963.4(SCN1A):c.429_430del:p.Phe144fs	coding	Pathogenic
2	166056499	A	AT	G166056501T	SCN1A	NM_001165963.4(SCN1A):c.384dup:p.Leu129fs	noncoding	Pathogenic
2	166058584	CT	C	T166058586A	SCN1A	NM_001165963.4(SCN1A):c.368del:p.Lys123fs	coding	Pathogenic
2	166058629	C	CA	G166058631A	SCN1A	NM_001165963.4(SCN1A):c.323dup:p.Tyr109fs	coding	Pathogenic
2	166058640	TG	T	G166058642C	SCN1A	NM_001165963.4(SCN1A):c.312del:p.Thr105fs	coding	Pathogenic
2	166058647	G	GA	C166058650A	SCN1A	NM_001165963.4(SCN1A):c.305dup:p.Ser103fs	coding	Pathogenic
2	166058651	CGGAAGAT	C	A166058654C	SCN1A	NM_001165963.4(SCN1A):c.295_301del:p.Ile99fs	coding	Pathogenic
2	166058660	GCCTT	G	T166058663C	SCN1A	NM_001165963.4(SCN1A):c.289_292del:p.Lys97fs	coding	Pathogenic
2	166058660	GC	G	C166058662T	SCN1A	NM_001165963.4(SCN1A):c.292del:p.Ala98fs	coding	Pathogenic
2	166058673	T	TCA	A166058676C	SCN1A	NM_001165963.4(SCN1A):c.278_279dup:p.Asn94Ter	coding	Pathogenic
2	166073353	CTCACT	GGCA	C166073353G	SCN1A	NM_006920.6(SCN1A):c.264_264+5delinsTGCC	noncoding	Pathogenic
2	166073356	ACTTT	A	T166073360A	SCN1A	NM_006920.6(SCN1A):c.262_264+1del	noncoding	Pathogenic
2	166073383	A	AG	T166073386G	SCN1A	NM_001165963.4(SCN1A):c.238dup:p.Leu80fs	coding	Pathogenic
2	166073414	GA	G	A166073415G	SCN1A	NM_006920.6(SCN1A):c.207del:p.Pro70fs	coding	Pathogenic
2	166073432	T	TAAATG	G166073438A	SCN1A	NM_001165963.4(SCN1A):c.185_189dup:p.Ile64fs	coding	Pathogenic
2	166073434	AATGG	A	T166073436A	SCN1A	NM_006920.6(SCN1A):c.184_187del:p.Pro62fs	coding	Pathogenic
2	166073436	TG	T	G166073438A	SCN1A	NM_001165963.4(SCN1A):c.185del:p.Pro62fs	coding	Pathogenic
2	166073456	CCAAGTCACTATTTGGCTTTGGGCCATTTT	C	A166073458G	SCN1A	NM_001165963.4(SCN1A):c.137_165del:p.Glu46fs	coding	Pathogenic
2	166073480	CA	C	A166073481T	SCN1A	NM_001165963.4(SCN1A):c.141del:p.Asn47fs	coding	Pathogenic
2	166073481	AT	A	T166073485C	SCN1A	NM_001165963.4(SCN1A):c.140del:p.Asn47fs	coding	Pathogenic
2	166073495	C	CT	G166073502T	SCN1A	NM_006920.6(SCN1A):c.126dup:p.Asp43fs	coding	Pathogenic
2	166073495	CT	C	T166073501G	SCN1A	NM_001165963.4(SCN1A):c.126del:p.Asp43fs	coding	Pathogenic
2	166073585	TG	T	G166073586T	SCN1A	NM_001165963.4(SCN1A):c.36del:p.Asp12fs	coding	Pathogenic
2	166196045	CTTAAAAAAGTT	C	A166196048T	SCN9A	NM_001365536.1(SCN9A):c.*2616_*2626del	noncoding	Benign
2	166197066	TA	T	A166197067T	SCN9A	NM_001365536.1(SCN9A):c.*1605del	noncoding	Benign
2	166197553	T	TTG	A166197554T	SCN9A	NM_001365536.1(SCN9A):c.*1118_*1119insCA	noncoding	Benign
2	166197873	G	GT	G166197882T	SCN9A	NM_001365536.1(SCN9A):c.*798dup	noncoding	Benign
2	166197899	C	CTT	A166197902T	SCN9A	NM_001365536.1(SCN9A):c.*771_*772dup	noncoding	Benign
2	166198141	TAG	T	G166198143A	SCN9A	NM_001365536.1(SCN9A):c.*529_*530del	noncoding	Benign
2	166198255	C	CA	T166198259A	SCN9A	NM_001365536.1(SCN9A):c.*416dup	noncoding	Benign
2	166198424	G	GAATC	C166198430A	SCN9A	NM_001365536.1(SCN9A):c.*244_*247dup	noncoding	Benign
2	166199287	CT	C	T166199288C	SCN9A	NM_001365536.1(SCN9A):c.5351del:p.Glu1784fs	coding	Pathogenic
2	166199556	TA	T	A166199558T	SCN9A	NM_001365536.1(SCN9A):c.5082del:p.Thr1695fs	coding	Pathogenic
2	166199819	GT	G	T166199820A	SCN9A	NM_001365536.1(SCN9A):c.4819del:p.Thr1607fs	coding	Pathogenic
2	166204218	AT	A	T166204222G	SCN9A	NM_001365536.1(SCN9A):c.4510del:p.Ile1504fs	coding	Pathogenic
2	166204362	CT	C	T166204363G	SCN1A-AS1;SCN9A	NM_001365536.1(SCN9A):c.4500del:p.Asn1502fs	coding	Pathogenic
2	166204470	GAAAC	G	C166204478A	SCN9A	NM_001365536.1(SCN9A):c.4399-10_4399-7del	noncoding	Benign
2	166204480	A	AT	A166204481T	SCN9A	NM_001365536.1(SCN9A):c.4399-17_4399-16insA	noncoding	Benign
2	166226600	GA	G	A166226601C	SCN9A	NM_001365536.1(SCN9A):c.4364del:p.Val1455fs	coding	Pathogenic
2	166272766	A	GG	A166272766G	SCN9A	NM_001365536.1(SCN9A):c.2984delinsCC:p.Ile995fs	coding	Pathogenic
2	166276969	AT	A	T166276970C	SCN9A	NM_001365536.1(SCN9A):c.2874+13del	noncoding	Benign
2	166277147	TA	T	A166277148C	SCN9A	NM_001365536.1(SCN9A):c.2709del:p.Asp902_Cys903insTer	coding	Pathogenic
2	166277279	CA	C	A166277281T	SCN9A	NM_001365536.1(SCN9A):c.2577del:p.Ile859fs	coding	Pathogenic
2	166278198	AAACTT	A	C166278201A	SCN9A	NM_001365536.1(SCN9A):c.2454_2458del:p.Leu818fs	coding	Pathogenic
2	166278261	T	TC	A166278264C	SCN1A-AS1;SCN9A	NM_001365536.1(SCN9A):c.2395dup:p.Asp799fs	coding	Pathogenic
2	166280368	TA	T	A166280369G	SCN9A	NM_001365536.1(SCN9A):c.2331del:p.Ala777_Ile778insTer	coding	Pathogenic
2	166280376	A	ACATTTTTGAATTCCTCAGT	G166280400T	SCN9A	NM_001365536.1(SCN9A):c.2305_2323dup:p.Val775delinsAspTer	coding	Pathogenic
2	166280590	C	CA	G166280593A	SCN9A	NM_001365536.1(SCN9A):c.2109dup:p.Glu704Ter	coding	Pathogenic
2	166281749	AT	A	T166281750C	SCN9A	NM_001365536.1(SCN9A):c.2033del:p.Asp678fs	coding	Pathogenic
2	166281810	TA	T	A166281820T	SCN9A	NM_001365536.1(SCN9A):c.1975-3del	noncoding	Benign/Likely_benign
2	166281810	T	TA	T166281821A	SCN9A	NM_001365536.1(SCN9A):c.1975-12dup	noncoding	Benign
2	166284657	CACAA	C	A166284661G	SCN9A	NM_001365536.1(SCN9A):c.1766_1769del:p.Phe589fs	coding	Pathogenic
2	166288621	GT	G	T166288625G	SCN9A	NM_001365536.1(SCN9A):c.1129del:p.Thr377fs	coding	Pathogenic
2	166303230	AAC	A	C166303234G	SCN9A	NM_001365536.1(SCN9A):c.757_758GT[1]:p.Phe254fs	coding	Pathogenic
2	166306969	TC	T	C166306970T	SCN9A	NM_001365536.1(SCN9A):c.363del:p.Ile122fs	coding	Pathogenic
2	166429170	AT	A	T166429175C	SCN7A	NM_002976.3(SCN7A):c.2696del:p.Asn899fs	coding	Benign
2	168923820	C	CG	T168923822G	ABCB11	NM_003742.4(ABCB11):c.3767dup:p.Val1257fs	coding	Pathogenic
2	168924806	GA	G	A168924813G	ABCB11	NM_003742.4(ABCB11):c.3619-4del	noncoding	Benign
2	168932375	AC	A	C168932378A	ABCB11	NM_003742.4(ABCB11):c.3213+1del	noncoding	Pathogenic
2	168935289	CA	C	A168935290G	ABCB11	NM_003742.4(ABCB11):c.2950del:p.Cys984fs	coding	Pathogenic
2	168936256	T	TATCTC	G168936262A	ABCB11	NM_003742.4(ABCB11):c.2783_2787dup:p.Lys930fs	coding	Pathogenic
2	168944673	CA	C	A168944676C	ABCB11	NM_003742.4(ABCB11):c.2541del:p.Phe847fs	coding	Pathogenic
2	168944719	AC	A	C168944720G	ABCB11	NM_003742.4(ABCB11):c.2495del:p.Arg832fs	coding	Pathogenic
2	168944857	CTGTAG	TAAATCACTTACTGAA	C168944857T	ABCB11	NM_003742.4(ABCB11):c.2443_2448delinsTTCAGTAAGTGATTTA:p.Leu815_Gln816delinsPheSerLysTer	coding	Pathogenic
2	168969393	CAA	C	A168969395G	ABCB11	NM_003742.4(ABCB11):c.1966_1967del:p.Leu656fs	coding	Pathogenic/Likely_pathogenic
2	168969412	TA	T	A168969415C	ABCB11	NM_003742.4(ABCB11):c.1948del:p.Tyr650fs	coding	Pathogenic
2	168969533	T	TTG	C168969540T	ABCB11	NM_003742.4(ABCB11):c.1822_1823CA[4]:p.Ile610fs	coding	Pathogenic
2	168970199	AC	A	C168970200A	ABCB11	NM_003742.4(ABCB11):c.1654del:p.Val552fs	coding	Pathogenic
2	168971853	CA	C	A168971854G	ABCB11	NM_003742.4(ABCB11):c.1631del:p.Leu544fs	coding	Pathogenic
2	168973721	TTCACAGGGGTCATAGAATCGCTGAATGAGTTGCAGTGCTGTACTTTTTCCAGCTCCACTGGGTCCTACCAGAGC	T	C168973723G	ABCB11	NM_003742.4(ABCB11):c.1354_1427del:p.Ala452fs	coding	Pathogenic
2	168973731	T	TGAAGGAATCA	C168973732G	ABCB11	NM_003742.4(ABCB11):c.1417_1418insTGATTCCTTC:p.Asp473fs	coding	Pathogenic
2	168976613	AT	A	T168976615A	ABCB11	NM_003742.4(ABCB11):c.1271del:p.Asn424fs	coding	Pathogenic
2	168990799	AC	A	C168990801T	ABCB11	NM_003742.4(ABCB11):c.908+1del	noncoding	Pathogenic
2	169013281	GT	G	T169013283C	ABCB11	NM_003742.4(ABCB11):c.379del:p.Thr127fs	coding	Pathogenic
2	169016815	AT	A	T169016816C	ABCB11	NM_003742.4(ABCB11):c.77-17del	noncoding	Benign
2	169127752	A	AT	G169127765T	LRP2	NM_004525.3(LRP2):c.*910dup	noncoding	Benign
2	169140514	T	TG	C169140523G	LRP2	NM_004525.3(LRP2):c.13139dup:p.Cys4381fs	coding	Pathogenic
2	169152822	TC	T	C169152824A	LRP2	NM_004525.3(LRP2):c.12437del:p.Gly4146fs	coding	Pathogenic
2	169168688	GA	G	A169168695C	LRP2	NM_004525.3(LRP2):c.11498-13del	noncoding	Benign/Likely_benign
2	169169726	CCAAA	C	A169169729G	LRP2	NM_004525.3(LRP2):c.11469_11472del:p.Cys3823fs	coding	Pathogenic
2	169185862	GAC	G	C169185864A	LRP2	NM_004525.3(LRP2):c.9484_9485del:p.Val3162fs	coding	Pathogenic
2	169185988	ACT	A	C169185989G	LRP2	NM_004525.3(LRP2):c.9358_9359del:p.Ser3120fs	coding	Pathogenic
2	169198841	CAAAT	C	T169198845C	LRP2	NM_004525.3(LRP2):c.8519_8522del:p.Tyr2840fs	coding	Pathogenic
2	169206741	T	TC	A169206743C	LRP2	NM_004525.3(LRP2):c.6978dup:p.Thr2327fs	coding	Pathogenic
2	169259063	TA	T	A169259066T	LRP2	NM_004525.3(LRP2):c.2474del:p.Tyr824_Leu825insTer	coding	Pathogenic
2	169294717	TAAAAAAA	T	A169294734G	LRP2	NM_004525.3(LRP2):c.428-14_428-8del	noncoding	Benign
2	169294717	TAA	T	A169294739G	LRP2	NM_004525.3(LRP2):c.428-9_428-8del	noncoding	Benign
2	169294717	T	TAAAAAAAAAAA	G169294741A	LRP2	NM_004525.3(LRP2):c.428-30_428-20dup	noncoding	Benign
2	169294717	T	TAAAA	G169294741A	LRP2	NM_004525.3(LRP2):c.428-30_428-27dup	noncoding	Benign
2	169482311	CA	C	A169482314G	BBS5	NM_152384.3(BBS5):c.123del:p.Gly42fs	coding	Pathogenic
2	169488030	G	GT	A169488032T	BBS5	NM_152384.3(BBS5):c.303dup:p.Asn102Ter	coding	Pathogenic
2	169509942	GTCCTTACT	G	T169509946G	KLHL41	NM_006063.3(KLHL41):c.168_175del:p.Pro56_Tyr57insTer	coding	Pathogenic
2	169509985	G	GA	G169509994A	KLHL41	NM_006063.3(KLHL41):c.215dup:p.Glu73fs	coding	Pathogenic
2	169510237	T	ACTC	T169510237A	KLHL41	NM_006063.3(KLHL41):c.459delinsACTC:p.Ala154_Arg155insLeu	coding	Pathogenic
2	169510352	AAAG	A	A169510359C	KLHL41	NM_006063.3(KLHL41):c.575_577AAG[2]:p.Glu194del	coding	Pathogenic
2	169510414	TA	T	A169510419C	KLHL41	NM_006063.3(KLHL41):c.641del:p.Asn214fs	coding	Pathogenic/Likely_pathogenic
2	169510706	AATGACACAGC	A	T169510708G	KLHL41	NM_006063.3(KLHL41):c.930_939del:p.Asn310fs	coding	Pathogenic
2	169514874	TA	T	A169514881C	KLHL41	NM_006063.3(KLHL41):c.1296del:p.Lys432fs	coding	Pathogenic
2	169525621	GAAGGAAAT	G	A169525623C	KLHL41	NM_006063.3(KLHL41):c.1748_1755del:p.Lys583fs	coding	Pathogenic
2	169530622	G	GT	C169530629T	FASTKD1	NM_024622.6(FASTKD1):c.2406dup:p.Arg803fs	coding	Benign
2	169821152	TTC	T	C169821154G	METTL5	NM_014168.4(METTL5):c.344_345del:p.Arg115fs	coding	Pathogenic
2	171434626	GC	G	C171434627G	DCAF17	NM_025000.4(DCAF17):c.50del:p.Ala17fs	coding	Pathogenic
2	171435080	TAG	AA	T171435080A	DCAF17	NM_025000.4(DCAF17):c.127-3_127-1delinsAA	noncoding	Pathogenic
2	171443558	CA	C	A171443562T	DCAF17	NM_025000.4(DCAF17):c.270del:p.Lys90fs	coding	Pathogenic
2	171443575	G	GA	T171443582A	DCAF17	NM_025000.4(DCAF17):c.289dup:p.Ile97fs	coding	Pathogenic
2	171448794	TC	T	C171448795T	DCAF17	NM_025000.4(DCAF17):c.436del:p.Ala147fs	coding	Pathogenic
2	171458134	A	AT	A171458146T	DCAF17	NM_025000.4(DCAF17):c.732+70dup	noncoding	Benign
2	171478007	T	TA	C171478009A	DCAF17	NM_025000.4(DCAF17):c.1204dup:p.Thr402fs	coding	Pathogenic
2	171482668	AT	A	T171482679A	DCAF17	NM_025000.4(DCAF17):c.*1565del	noncoding	Benign
2	171810285	AG	A	G171810288A	SLC25A12	NM_003705.5(SLC25A12):c.1172-10del	noncoding	Benign
2	172501822	CA	C	A172501824G	ITGA6	NM_001079818.3(ITGA6):c.3115-2267del	coding	Pathogenic
2	173182886	A	AT	A173182889T	MAP3K20	NM_016653.3(MAP3K20):c.282dup:p.Asn95Ter	coding	Pathogenic
2	173191084	CAT	C	A173191085G	MAP3K20	NM_016653.3(MAP3K20):c.490_491del:p.Met164fs	coding	Pathogenic
2	173366363	AG	A	G173366365C	CDCA7	NM_031942.5(CDCA7):c.1118del:p.Gly373fs	coding	Pathogenic
2	174427852	TTCAAATTTATCAG	T	T174427871G	SCRN3	NM_024583.5(SCRN3):c.1238_1250TTTATCAGTCAAA[1]:p.Asn417fs	coding	Benign
2	174748849	AATT	A	A174748853G	CHRNA1	NM_000079.4(CHRNA1):c.1003-33_1003-31del	noncoding	Benign
2	174750180	CAA	C	A174750196T	CHRNA1	NM_000079.4(CHRNA1):c.779-13_779-12del	noncoding	Benign
2	174759379	GA	G	A174759388T	CHRNA1	NM_000079.4(CHRNA1):c.190-5del	noncoding	Benign
2	174759379	G	GA	T174759389A	CHRNA1	NM_000079.4(CHRNA1):c.190-13dup	noncoding	Benign
2	175939637	GT	G	T175939638G	LNPK	NM_030650.3(LNPK):c.726del:p.Pro243fs	coding	Pathogenic
2	176093061	GGCGGCGGCGGCAGCGGCGGCT	G	A176093073G	HOXD13	NM_000523.4(HOXD13):c.183_203del:p.Ala65_Ala71del	coding	Pathogenic
2	176093064	GGCGGCGGCA	G	A176093073T	HOXD13	NM_000523.4(HOXD13):c.183_191del:p.Ala69_Ala71del	coding	Benign
2	176093094	G	GGCGGCAGCGGCGGCTGCGGCGGCGGCA	C176093103G	HOXD13	NM_000523.4(HOXD13):c.212_213insGGCGGCTGCGGCGGCGGCAGCGGCAGC:p.Ala63_Ala71dup	coding	Pathogenic
2	176093094	G	GGCGGCGGCTGCGGCGGCGGCA	A176093100G	HOXD13	NM_000523.4(HOXD13):c.209_210insGGCTGCGGCGGCGGCAGCGGC:p.Ala65_Ala71dup	coding	Pathogenic
2	176093212	CCAGCACCCACGCCT	C	C176093213G	HOXD13	NM_000523.4(HOXD13):c.323_336del:p.Pro108fs	coding	Pathogenic
2	176093630	ACCAG	A	G176093634C	HOXD13	NM_000523.4(HOXD13):c.744_747del:p.Gln248fs	coding	Pathogenic
2	176094477	CA	C	A176094478G	HOXD13	NM_000523.4(HOXD13):c.782-2del	noncoding	Pathogenic
2	176094531	AG	A	G176094532A	HOXD13	NM_000523.4(HOXD13):c.834del:p.Lys279fs	coding	Pathogenic
2	176323464	GGTAA	G	A176323467G	MTX2	NM_006554.5(MTX2):c.208+3_208+6del	coding	Pathogenic
2	176328298	TTC	T	C176328302T	MTX2	NM_006554.5(MTX2):c.293_294CT[1]:p.Ser98_Leu99insTer	coding	Pathogenic
2	176330642	CG	C	G176330643T	MTX2	NM_006554.5(MTX2):c.603del:p.Tyr202fs	coding	Pathogenic
2	177492916	T	TAAA	G177492917A	AGPS	NM_003659.4(AGPS):c.1234-232_1234-231insAAA	noncoding	Benign
2	177540007	T	TAAAG	G177540010A	AGPS	NM_003659.4(AGPS):c.*1814_*1815insAGAA	noncoding	Benign
2	177542041	A	AT	C177542050T	AGPS	NM_003659.4(AGPS):c.*3854dup	noncoding	Benign
2	177542710	CAT	C	A177542711G	AGPS	NM_003659.4(AGPS):c.*4516_*4517del	noncoding	Benign
2	178431521	C	CACA	T178431526C	PRKRA	NM_003690.5(PRKRA):c.*573_*575dup	noncoding	Benign
2	178431654	ACAAT	A	A178431661T	PRKRA	NM_003690.5(PRKRA):c.*435_*438ATTG[1]	noncoding	Benign
2	178436328	CAG	C	G178436332T	PRKRA	NM_003690.5(PRKRA):c.610-11_610-10del	noncoding	Benign/Likely_benign
2	178447553	CTA	C	A178447555G	PRKRA	NM_003690.5(PRKRA):c.267_268del:p.His89fs	coding	Pathogenic
2	178450414	G	GAAGGTCCCACTGTCCTCGCGCTCCAGCGGCAGGGCCTCGGCGGTGCCTGCTCTGGGA	C178450415A	PRKRA	NM_003690.5(PRKRA):c.66-4_66-3insTCCCAGAGCAGGCACCGCCGAGGCCCTGCCGCTGGAGCGCGAGGACAGTGGGACCTT	coding	Benign
2	178451007	GGC	G	C178451011G	PRKRA;PJVK	NM_003690.5(PRKRA):c.20_21GC[1]:p.Ala8fs	coding	Benign/Likely_benign
2	178453521	G	GT	A178453523T	PJVK	NM_001042702.5(PJVK):c.113dup:p.Lys41fs	coding	Pathogenic
2	178453529	GA	G	A178453531G	PJVK	NM_001042702.5(PJVK):c.122del:p.Lys41fs	coding	Pathogenic
2	178453568	AACACCTTTTAC	A	A178453571T	PJVK	NM_001042702.4(PJVK):c.162_172del:p.Pro55fs	coding	Pathogenic
2	178456115	GTC	G	C178456117G	PJVK	NM_001042702.4(PJVK):c.515_516del:p.Ser172fs	coding	Pathogenic
2	178460403	AT	A	T178460406G	PJVK	NM_001042702.5(PJVK):c.726del:p.Phe242fs	coding	Pathogenic
2	178461119	CACA	C	A178461123T	PJVK	NM_001353775.1(PJVK):c.914_916ACA[1]:p.Asn306del	coding	Pathogenic
2	178461202	TG	T	G178461203T	PJVK	NM_001042702.5(PJVK):c.988del:p.Val330fs	coding	Pathogenic
2	178527090	ACCATCT	A	C178527091T	TTN	NM_001267550.2(TTN):c.107892_107897del:p.Gln35964_Gly35966delinsHis	coding	Pathogenic
2	178527098	GT	G	T178527101C	TTN	NM_001267550.2(TTN):c.107889del:p.Lys35963fs	coding	Pathogenic
2	178527198	CCATGTTACTT	TTTTTCTTTCA	C178527198T	TTN	NM_003319.4(TTN):c.80585_80595delinsTGAAAGAAAAA:p.Glu26862_Trp26865delinsValLysGluLys	coding	Pathogenic
2	178527478	GA	G	A178527479G	TTN	NM_001267550.2(TTN):c.107647del:p.Ser35883fs	coding	Pathogenic
2	178528547	CAT	C	A178528548T	TTN	NM_001267550.2(TTN):c.107202_107203del:p.Trp35735fs	coding	Pathogenic/Likely_pathogenic
2	178528583	CAAGTA	C	T178528587A	TTN	NM_001267550.2(TTN):c.107163_107167del:p.Phe35721fs	coding	Pathogenic/Likely_pathogenic
2	178529082	AT	A	T178529086G	TTN	TTN:c.106668delA:p.Lys35556Argfs	coding	Pathogenic
2	178530477	T	TA	G178530481A	TTN	NM_001267550.2(TTN):c.106137dup:p.Lys35380Ter	coding	Pathogenic/Likely_pathogenic
2	178530827	GC	AA	G178530827A	TTN	NM_001267550.2(TTN):c.105787_105788delinsTT:p.Ala35263Phe	coding	Benign/Likely_benign
2	178531079	GTGGTCACT	G	C178531084G	TTN	NM_001267550.2(TTN):c.105528_105535del:p.Gln35176fs	coding	Pathogenic
2	178531094	CG	C	G178531097C	TTN	NM_001267550.2(TTN):c.105520del:p.Arg35174fs	coding	Pathogenic
2	178531128	GC	G	C178531130A	TTN	NM_001267550.2(TTN):c.105486del:p.Trp35162fs	coding	Pathogenic
2	178532865	GT	G	T178532868C	TTN	NM_001267550.2(TTN):c.103749del:p.Lys34583fs	coding	Pathogenic
2	178533254	TC	T	C178533256A	TTN	NM_001267550.2(TTN):c.103360del:p.Glu34454fs	coding	Pathogenic/Likely_pathogenic
2	178534825	TA	T	A178534830C	TTN	NM_001267550.2(TTN):c.101789del:p.Leu33930fs	coding	Pathogenic
2	178535517	C	AG	C178535517A	TTN	NM_001267550.2(TTN):c.101098delinsCT:p.Asp33700fs	coding	Pathogenic/Likely_pathogenic
2	178535594	C	CTG	T178535598G	TTN	NM_001267550.2(TTN):c.101019_101020dup:p.Arg33674fs	coding	Pathogenic/Likely_pathogenic
2	178535857	A	AG	A178535859G	TTN	NM_001267550.2(TTN):c.100766-9dup	noncoding	Benign
2	178535858	GAA	G	A178535872G	TTN	NM_001267550.2(TTN):c.100766-11_100766-10delTT	noncoding	Benign
2	178536300	C	CT	G178536302T	TTN	NM_001267550.2(TTN):c.100446dup:p.Glu33483fs	coding	Pathogenic/Likely_pathogenic
2	178538643	A	ACC	T178538646C	TTN	NM_001267550.2(TTN):c.99184_99185dup:p.Leu33063fs	coding	Pathogenic
2	178538834	GT	G	T178538837A	TTN	NM_001267550.2(TTN):c.98994del:p.Lys32998fs	coding	Pathogenic/Likely_pathogenic
2	178539764	CCT	C	C178539765G	TTN	NM_001267550.2(TTN):c.98299_98300del:p.Arg32767fs	coding	Pathogenic/Likely_pathogenic
2	178541543	AAA	T	A178541543T	TTN	NM_001267550.2(TTN):c.97532_97534delinsA:p.Val32511fs	coding	Pathogenic
2	178541549	CAAATA	C	A178541550T	TTN	NM_001267550.2(TTN):c.97523_97527del:p.Ile32508fs	coding	Pathogenic
2	178542803	C	CT	G178542805T	TTN	NM_001267550.2(TTN):c.97050dup:p.Glu32351fs	coding	Pathogenic/Likely_pathogenic
2	178544458	TG	T	G178544459T	TTN	NM_001267550.2(TTN):c.95770del:p.His31924fs	coding	Pathogenic
2	178546248	C	CG	C178546250G	TTN	NM_001267550.2(TTN):c.95082dup:p.Gly31695fs	coding	Pathogenic
2	178547446	G	CTGCTAGA	G178547446C	TTN	NM_001267550.2(TTN):c.94180delinsTCTAGCAG:p.Pro31394fs	coding	Pathogenic/Likely_pathogenic
2	178547447	TT	G	T178547447G	TTN	NM_001267550.2(TTN):c.94178_94179delinsC:p.Lys31393fs	coding	Pathogenic
2	178547518	CTTTAA	C	A178547522G	TTN	NM_001267550.2(TTN):c.94103_94107del:p.Ile31368fs	coding	Pathogenic/Likely_pathogenic
2	178547728	TA	T	A178547731T	TTN	NM_001267550.2(TTN):c.93897del:p.Phe31299fs	coding	Pathogenic/Likely_pathogenic
2	178548225	CAAGCT	C	C178548229A	TTN	NM_001267550.2(TTN):c.93396_93400del:p.Ala31133_Trp31134insTer	coding	Pathogenic/Likely_pathogenic
2	178548813	C	CT	A178548815T	TTN	NM_001267550.2(TTN):c.92812dup:p.Arg30938fs	coding	Pathogenic
2	178548994	T	TC	A178548996C	TTN	NM_001267550.2(TTN):c.92631dup:p.Lys30878fs	coding	Pathogenic/Likely_pathogenic
2	178549846	GC	G	C178549849A	TTN	NM_001267550.2(TTN):c.91875del:p.Pro30626fs	coding	Pathogenic
2	178549998	C	CT	A178550002T	TTN	NM_001267550.2(TTN):c.91839dup:p.Val30614fs	coding	Pathogenic/Likely_pathogenic
2	178552506	CA	C	A178552508C	TTN	NM_001267550.2(TTN):c.90393del:p.Asp30132fs	coding	Pathogenic
2	178552643	CAT	C	A178552644G	TTN	NM_003319.4(TTN):c.63060_63061del:p.Thr21020_Cys21021insTer	coding	Pathogenic/Likely_pathogenic
2	178553716	GC	G	C178553721A	TTN	NM_001267550.2(TTN):c.89288del:p.Gly29763fs	coding	Pathogenic
2	178553734	CT	C	T178553736A	TTN	NM_001267550.2(TTN):c.89270del:p.Lys29757fs	coding	Pathogenic
2	178554104	G	GA	T178554108A	TTN	NM_001267550.2(TTN):c.89006dup:p.Leu29670fs	coding	Pathogenic/Likely_pathogenic
2	178554642	AGT	A	T178554644A	TTN	NM_001267550.2(TTN):c.88703_88704del:p.His29568fs	coding	Pathogenic
2	178557441	AG	A	G178557443T	TTN	NM_001267550.2(TTN):c.87820del:p.Leu29274fs	coding	Pathogenic
2	178557935	GG	TTAGATATATCACTAATAACA	G178557935T	TTN	NM_001267550.2(TTN):c.87418_87419delinsTGTTATTAGTGATATATCTAA:p.Pro29140delinsCysTyrTer	coding	Pathogenic
2	178557998	GC	G	C178557999A	TTN	NM_001267550.2(TTN):c.87355del:p.Ala29119fs	coding	Pathogenic
2	178559329	CCTTT	C	C178559330G	TTN	NM_001267550.2(TTN):c.86799_86802del:p.Glu28935_Gly28936insTer	coding	Pathogenic/Likely_pathogenic
2	178559740	TAGTAC	T	A178559741G	TTN	NM_001267550.2(TTN):c.86387_86391del:p.Arg28796fs	coding	Pathogenic
2	178560055	A	AT	G178560062T	TTN	NM_001267550.2(TTN):c.86076dup:p.Ser28693fs	coding	Pathogenic
2	178560836	CA	C	A178560837G	TTN	NM_001267550.2(TTN):c.85295del:p.Leu28432fs	coding	Pathogenic
2	178560928	CTCTT	C	T178560933C	TTN;TTN-AS1	NM_001267550.2(TTN):c.85200_85203del:p.Arg28401fs	coding	Pathogenic
2	178561766	TC	T	C178561768T	TTN	NM_001267550.2(TTN):c.84365del:p.Gly28122fs	coding	Pathogenic
2	178562589	A	AT	C178562591T	TTN	NM_001267550.2(TTN):c.83542dup:p.Ile27848fs	coding	Pathogenic
2	178563058	TAGCACTTGCA	T	A178563059C	TTN	NM_001267550.2(TTN):c.83064_83073del:p.Ala27689fs	coding	Pathogenic/Likely_pathogenic
2	178563415	GA	T	G178563415T	TTN	NM_001267550.2(TTN):c.82716_82717delinsA:p.Pro27574fs	coding	Pathogenic
2	178563473	TC	T	C178563476A	TTN	NM_001267550.2(TTN):c.82658del:p.Gly27553fs	coding	Pathogenic
2	178564252	CAA	C	A178564255G	TTN	NM_001267550.2(TTN):c.81878_81879del:p.Phe27293fs	coding	Pathogenic/Likely_pathogenic
2	178564790	C	CT	C178564795T	TTN;TTN-AS1	NM_001267550.2(TTN):c.81341dup:p.Asn27115fs	coding	Pathogenic
2	178564870	GATCTTTTGAGATTGATGTC	G	T178564872C	TTN	NM_001267550.2(TTN):c.81243_81261del:p.Thr27082fs	coding	Pathogenic
2	178564929	TA	T	A178564930T	TTN	NM_001267550.2(TTN):c.81202del:p.Tyr27068fs	coding	Pathogenic/Likely_pathogenic
2	178564999	AC	A	C178565000T	TTN	NM_001267550.2(TTN):c.81132del:p.Gln27044fs	coding	Pathogenic
2	178565547	CT	C	T178565552C	TTN	NM_001267550.2(TTN):c.80584del:p.Ser26862fs	coding	Pathogenic
2	178565699	TCTGCTACCGCCATCATGTTCAGGTTTCTCCCACATAAGTGATGCACTGGTCTGGGACACATCAGTGAG	T	C178565700T	TTN	NM_001267550.2(TTN):c.80365_80432del:p.Leu26789fs	coding	Pathogenic
2	178566322	CAACA	C	A178566324T	TTN	NM_001267550.2(TTN):c.79806_79809del:p.Ile26602fs	coding	Pathogenic
2	178567184	G	GC	A178567187C	TTN	NM_001267550.2(TTN):c.78947dup:p.Ser26317fs	coding	Pathogenic
2	178567273	GTCTA	G	T178567278A	TTN	NM_001267550.2(TTN):c.78851_78854TAGA[1]:p.Arg26286fs	coding	Pathogenic/Likely_pathogenic
2	178567382	TA	T	A178567385G	TTN	NM_001267550.2(TTN):c.78749del:p.Leu26250fs	coding	Pathogenic/Likely_pathogenic
2	178568470	GAGTTACAATTTCGATG	TCT	G178568470T	TTN	NM_001267550.2(TTN):c.77646_77662delinsAGA:p.Ile25883fs	coding	Pathogenic/Likely_pathogenic
2	178568954	AC	A	C178568956A	TTN	NM_001267550.2(TTN):c.77177del:p.Gly25726fs	coding	Pathogenic
2	178569031	G	GT	G178569034T	TTN	NM_001267550.2(TTN):c.77100dup:p.Pro25701fs	coding	Pathogenic/Likely_pathogenic
2	178569227	A	AT	A178569234T	TTN	NM_001267550.2(TTN):c.76904dup:p.Asn25635fs	coding	Pathogenic
2	178569733	CTA	C	A178569735G	TTN	NM_001267550.2(TTN):c.76397_76398del:p.Ile25466fs	coding	Pathogenic
2	178569758	TG	T	G178569760T	TTN	NM_001267550.2(TTN):c.76373del:p.Pro25458fs	coding	Pathogenic/Likely_pathogenic
2	178569952	A	AAGGAGGGCTTGGTTCACTAAGTT	C178569975T	TTN	NM_001267550.2(TTN):c.76179_76180insAACTTAGTGAACCAAGCCCTCCT:p.Ser25394fs	coding	Pathogenic
2	178569974	TC	CCCT	T178569974C	TTN	NM_001267550.2(TTN):c.76157_76158delinsAGGG:p.Gly25386fs	coding	Pathogenic
2	178570468	AT	A	T178570473C	TTN	NM_001267550.2(TTN):c.75663del:p.Lys25221fs	coding	Pathogenic/Likely_pathogenic
2	178570990	ATTCT	A	T178570996C	TTN	NM_001267550.2(TTN):c.75134_75137AGAA[1]:p.Lys25046fs	coding	Pathogenic/Likely_pathogenic
2	178571523	GC	G	C178571525T	TTN	NM_001267550.2(TTN):c.74608del:p.Ala24870fs	coding	Pathogenic/Likely_pathogenic
2	178572563	TG	T	G178572569C	TTN	NM_001267550.2(TTN):c.73568del:p.Pro24523fs	coding	Pathogenic/Likely_pathogenic
2	178572947	A	AT	A178572949T	TTN	NM_001267550.2(TTN):c.73184dup:p.Tyr24395Ter	coding	Pathogenic
2	178573168	ACACAGTGT	A	G178573173A	TTN	NM_001267550.2(TTN):c.72956_72963del:p.Asp24319fs	coding	Pathogenic
2	178573282	CTT	C	T178573284A	TTN	NM_001267550.2(TTN):c.72848_72849del:p.Lys24283fs	coding	Pathogenic
2	178573302	A	AGAGT	T178573307G	TTN	NM_001267550.2(TTN):c.72826_72829dup:p.Leu24277fs	coding	Pathogenic
2	178573305	GT	G	T178573312G	TTN	NM_001267550.2(TTN):c.72826del:p.Thr24276fs	coding	Pathogenic
2	178573462	CA	C	A178573463G	TTN	NM_001267550.2(TTN):c.72669del:p.Asp24224fs	coding	Pathogenic/Likely_pathogenic
2	178573468	GT	G	T178573469C	TTN	NM_001267550.2(TTN):c.72663del:p.Pro24223fs	coding	Pathogenic
2	178573784	AT	A	T178573786G	TTN	NM_001267550.2(TTN):c.72347del:p.Asn24116fs	coding	Pathogenic
2	178574146	CATATGC	TA	C178574146T	TTN	NM_001267550.2(TTN):c.71980_71986delinsTA:p.Ala23994_Glu23996delinsTer	coding	Pathogenic/Likely_pathogenic
2	178574492	TA	T	A178574495G	TTN	NM_001267550.2(TTN):c.71639del:p.Ala23879_Leu23880insTer	coding	Pathogenic
2	178574691	G	GTGAT	G178574696T	TTN	NM_001267550.2(TTN):c.71437_71440dup:p.Thr23814fs	coding	Pathogenic
2	178574929	T	TG	A178574931G	TTN	NM_001267550.2(TTN):c.71202dup:p.Lys23735fs	coding	Pathogenic
2	178575299	CG	C	G178575300C	TTN	NM_001267550.2(TTN):c.70832del:p.Ala23611fs	coding	Pathogenic
2	178576131	TC	T	C178576132A	TTN	NM_001267550.2(TTN):c.70000del:p.Glu23334fs	coding	Pathogenic
2	178576251	GT	G	T178576253C	TTN	NM_001267550.2(TTN):c.69880del:p.Thr23294fs	coding	Pathogenic
2	178576588	C	CT	G178576590T	TTN	NM_001267550.2(TTN):c.69655dup:p.Arg23219fs	coding	Pathogenic
2	178577077	C	CAA	G178577082A	TTN	NM_001267550.2(TTN):c.69256_69257dup:p.Leu23086fs	coding	Pathogenic/Likely_pathogenic
2	178577121	TTGG	AGA	T178577121A	TTN	NM_001267550.2(TTN):c.69211_69214delinsTCT:p.Pro23071fs	coding	Pathogenic
2	178577411	G	GA	G178577412A	TTN	NM_001267550.2(TTN):c.68923_68924insT:p.Pro22975fs	coding	Pathogenic
2	178577446	G	GGTAT	C178577451G	TTN	NM_001267550.2(TTN):c.68885_68888dup:p.Ile22964fs	coding	Pathogenic/Likely_pathogenic
2	178578006	C	CA	C178578009A	TTN	NM_001267550.2(TTN):c.68508dup:p.Val22837fs	coding	Pathogenic/Likely_pathogenic
2	178583650	TG	T	G178583653C	TTN	NM_001267550.2(TTN):c.65531del:p.Pro21844fs	coding	Pathogenic/Likely_pathogenic
2	178583719	AG	A	G178583720C	TTN	NM_001267550.2(TTN):c.65462del:p.Ala21821fs	coding	Pathogenic
2	178584952	A	AG	C178584959G	TTN	NM_001267550.2(TTN):c.64688dup:p.Gln21564fs	coding	Pathogenic/Likely_pathogenic
2	178584960	C	CG	C178584966G	TTN	NM_001267550.2(TTN):c.64680dup:p.Gly21561fs	coding	Pathogenic/Likely_pathogenic
2	178586647	G	GTACTC	G178586654A	TTN	NM_001267550.2(TTN):c.64249_64253dup:p.Tyr21418Ter	coding	Pathogenic
2	178588203	TG	T	G178588205T	TTN	NM_001267550.2(TTN):c.63203del:p.Pro21068fs	coding	Pathogenic
2	178588560	C	CG	T178588563G	TTN	NM_001267550.2(TTN):c.63164dup:p.Val21056fs	coding	Pathogenic
2	178589530	C	CTT	G178589532T	TTN	NM_001267550.2(TTN):c.62194_62195insAA:p.Arg20732fs	coding	Pathogenic
2	178592602	AC	A	C178592604A	TTN	NM_001267550.2(TTN):c.59402del:p.Gly19801fs	coding	Pathogenic
2	178592913	AC	A	C178592914T	TTN	NM_001267550.2(TTN):c.59205del:p.Glu19735fs	coding	Pathogenic/Likely_pathogenic
2	178593369	GT	G	T178593370A	TTN	NM_001267550.2(TTN):c.58838del:p.Tyr19613fs	coding	Pathogenic
2	178593731	A	ACC	A178593735C	TTN	NM_001267550.2(TTN):c.58567_58568dup:p.Lys19524fs	coding	Pathogenic
2	178593731	AC	A	C178593734A	TTN	NM_001267550.2(TTN):c.58568del:p.Gly19523fs	coding	Pathogenic/Likely_pathogenic
2	178593873	G	GA	T178593884A	TTN	NM_001267550.2(TTN):c.58433-16dup	noncoding	Benign
2	178595487	AT	A	T178595500A	TTN	NM_001267550.2(TTN):c.57847+19del	noncoding	Benign
2	178598753	GGATCTCTAGCAGTCGCTGGGTC	AGGTT	G178598753A	TTN	NM_001267550.2(TTN):c.56935_56957delinsAACCT:p.Asp18979_Pro18986delinsAsnLeu	coding	Pathogenic
2	178598856	CA	C	A178598857G	TTN	NM_001267550.2(TTN):c.56853del:p.Gly18952fs	coding	Pathogenic
2	178601535	CTT	C	T178601537C	TTN	NM_001267550.2(TTN):c.55460_55461del:p.Lys18487fs	coding	Pathogenic/Likely_pathogenic
2	178601765	GA	G	A178601766G	TTN	NM_001267550.2(TTN):c.55324del:p.Ser18442fs	coding	Pathogenic
2	178605064	TC	T	C178605067G	TTN	NM_001267550.2(TTN):c.54112del:p.Glu18038fs	coding	Pathogenic/Likely_pathogenic
2	178605192	CA	C	A178605193T	TTN	NM_001267550.2(TTN):c.53984del:p.Met17995fs	coding	Pathogenic
2	178607208	GC	G	C178607210T	TTN	NM_001267550.2(TTN):c.53393del:p.Gly17798fs	coding	Pathogenic/Likely_pathogenic
2	178608054	ACT	A	C178608057T	TTN	NM_001267550.2(TTN):c.52729_52730AG[1]:p.Arg17577fs	coding	Pathogenic/Likely_pathogenic
2	178608328	C	CACGAG	C178608336G	TTN	NM_001267550.2(TTN):c.52550_52554dup:p.Val17519fs	coding	Pathogenic
2	178608482	T	TA	T178608490A	TTN	NM_001267550.2(TTN):c.52406-12dup	noncoding	Benign
2	178608700	T	TTCAA	G178608708A	TTN	NM_001267550.2(TTN):c.52307_52310dup:p.Glu17437delinsAspTer	coding	Pathogenic
2	178609461	CTTTATCCATGTAATAG	C	T178609464G	TTN	NM_001267550.2(TTN):c.51833_51848del:p.Thr17278fs	coding	Pathogenic
2	178609897	CT	C	T178609898C	TTN	NM_001267550.2(TTN):c.51525del:p.Ser17177fs	coding	Pathogenic/Likely_pathogenic
2	178610281	T	TA	T178610284A	TTN	NM_001267550.2(TTN):c.51244dup:p.Tyr17082fs	coding	Pathogenic
2	178611877	A	AAGTT	C178611883G	TTN	NM_001267550.2(TTN):c.50428_50431dup:p.Phe16811Ter	coding	Pathogenic
2	178613158	TA	T	A178613159C	TTN	NM_001267550.2(TTN):c.49648+2del	noncoding	Pathogenic
2	178615718	TTAAA	T	A178615722G	TTN	NM_001267550.2(TTN):c.48379_48382del:p.Phe16127fs	coding	Pathogenic
2	178616872	CCT	C	C178616873G	TTN	NM_001267550.2(TTN):c.48015_48016del:p.Asp16007fs	coding	Pathogenic/Likely_pathogenic
2	178616927	CT	C	T178616928G	TTN	NM_001267550.2(TTN):c.47961del:p.Gly15988fs	coding	Pathogenic/Likely_pathogenic
2	178619991	C	CT	C178619992T	TTN	NM_001267550.2(TTN):c.46425_46426insA:p.Glu15476fs	coding	Pathogenic
2	178621439	TTAGAAATAAA	T	T178621440A	TTN	NM_001267550.2(TTN):c.45349+26_45349+35del	noncoding	Benign
2	178621716	AT	A	T178621721G	TTN	NM_001267550.2(TTN):c.45107del:p.Asn15036fs	coding	Pathogenic
2	178632421	G	GA	G178632430A	TTN	NM_001267550.2(TTN):c.43481-16dup	noncoding	Benign/Likely_benign
2	178634009	CACAA	C	C178634015A	TTN	NM_001267550.2(TTN):c.42482_42485TTGT[1]:p.Cys14163fs	coding	Pathogenic/Likely_pathogenic
2	178647040	G	GTA	C178647063T	TTN	NM_001267550.2(TTN):c.40222+2TA[12]	noncoding	Benign
2	178647040	GTA	G	T178647061C	TTN	NM_001267550.2(TTN):c.40222+2TA[10]	noncoding	Benign
2	178650214	TTTTCCTCTTCAGGAGCAA	T	T178650240A	TTN	NM_001267550.2(TTN):c.39731_39748TTGCTCCTGAAGAGGAAA[1]:p.13244_13249IAPEEE[1]	coding	Benign/Likely_benign
2	178672414	TG	T	G178672419A	TTN	NM_001267550.2(TTN):c.34922del:p.Pro11641fs	coding	Pathogenic
2	178679957	A	ACTT	C178679960T	TTN	NM_001267550.2(TTN):c.33516_33517insAAG:p.Tyr11173_Ile11174insLys	coding	Benign
2	178696036	CAT	C	T178696038G	TTN	NM_001267550.2(TTN):c.31034_31035del:p.Asp10344_Tyr10345insTer	coding	Pathogenic
2	178698916	TAA	T	A178698930G	TTN	NM_001267550.2(TTN):c.30683-4_30683-3del	noncoding	Benign
2	178698916	T	TA	G178698932A	TTN	NM_001267550.2(TTN):c.30683-3dupT	noncoding	Benign/Likely_benign
2	178698927	AAAAAGAAAAAAAAAG	A	G178698932A	TTN	NM_001267550.2(TTN):c.30683-28_30683-14del	noncoding	Benign
2	178700831	G	GT	A178700833T	TTN	NM_001267550.2(TTN):c.30682+288dup	noncoding	Benign
2	178702075	T	TAA	T178702086A	TTN	NM_001267550.2(TTN):c.30512-19_30512-18dup	noncoding	Benign
2	178702075	T	TA	T178702086A	TTN	NM_001267550.2(TTN):c.30512-19dup	noncoding	Benign/Likely_benign
2	178704946	CCTCT	C	C178704949A	TTN	NM_001267550.2(TTN):c.29619_29620AG[1]:p.Glu9874fs	coding	Pathogenic
2	178706900	AAG	A	A178706903T	TTN	NM_001267550.2(TTN):c.29092_29093CT[1]:p.Phe9700fs	coding	Pathogenic
2	178709874	GAT	G	A178709879G	TTN	NM_001267550.2(TTN):c.28463-24AT[2]	noncoding	Benign
2	178713381	TACAAAACAAA	T	C178713403A	TTN	NM_001267550.2(TTN):c.26762-39TTTGT[4]	noncoding	Benign/Likely_benign
2	178713381	TACAAA	T	C178713408A	TTN	NM_001267550.2(TTN):c.26762-39TTTGT[5]	noncoding	Benign/Likely_benign
2	178713381	T	TACAAA	A178713413C	TTN	NM_001267550.2(TTN):c.26762-39TTTGT[7]	noncoding	Benign/Likely_benign
2	178713381	T	TACAAAACAAA	A178713413C	TTN	NM_001267550.2(TTN):c.26762-39TTTGT[8]	noncoding	Benign/Likely_benign
2	178713381	T	TACAAAACAAAACAAAACAAA	A178713413C	TTN	NM_001267550.2(TTN):c.26762-39TTTGT[10]	noncoding	Benign
2	178713381	T	TACAAAACAAAACAAAACAAAACAAAACAAA	A178713413C	TTN	NM_001267550.2(TTN):c.26762-39TTTGT[12]	noncoding	Benign/Likely_benign
2	178719588	GC	T	G178719588T	TTN	NM_001267550.2(TTN):c.23903_23904delinsA:p.Gly7968fs	coding	Pathogenic
2	178722174	G	GT	G178722182T	TTN	NM_001267550.2(TTN):c.22529-47dup	noncoding	Benign
2	178722752	TAA	T	A178722756C	TTN	NM_001267550.2(TTN):c.22145_22146del:p.Val7381_Phe7382insTer	coding	Pathogenic
2	178728722	TG	T	G178728725A	TTN	NM_001267550.2(TTN):c.19203del:p.Pro6401_Met6402insTer	coding	Pathogenic
2	178733388	AC	A	C178733390A	TTN	NM_001267550.2(TTN):c.15904del:p.Val5302fs	coding	Pathogenic
2	178752053	A	AC	A178752054C	TTN	NM_001267550.2(TTN):c.11311+1070_11311+1071insG	noncoding	Benign
2	178753195	CAT	C	T178753199A	TTN	NM_001267550.2(TTN):c.11255-17_11255-16del	noncoding	Benign
2	178766630	TA	T	A178766637C	TTN	NM_001267550.2(TTN):c.9472-19del	noncoding	Benign
2	178766637	AC	A	C178766638A	TTN	NM_001267550.2(TTN):c.9472-26del	noncoding	Benign
2	178769649	GTA	G	A178769665T	TTN	NM_001267550.2(TTN):c.8902+14TA[7]	noncoding	Benign
2	178769662	TA	T	A178769663T	TTN	NM_001267550.2(TTN):c.8902+16del	noncoding	Benign
2	178769663	ATA	T	A178769663T	TTN	NM_001267550.2(TTN):c.8902+14_8902+16delinsA	noncoding	Benign
2	178769664	TA	T	A178769665T	TTN	NM_001267550.2(TTN):c.8902+14del	noncoding	Benign
2	178786111	C	CTACAGCTT	C178786120T	TTN	NM_001267550.2(TTN):c.2099_2106dup:p.Ala703delinsLysLeuTer	coding	Pathogenic
2	178804500	CTGGAG	C	T178804501A	TTN	NM_001267550.2(TTN):c.91+47_91+51del	noncoding	Benign
2	179970647	T	TA	C179970649A	CWC22	NM_020943.3(CWC22):c.1147+2dup	noncoding	Benign
2	181538217	A	ATAAAGACTGATAAGTCTTGG	A181538238T	CERKL	NM_201548.5(CERKL):c.1546_1565dup:p.Gly523fs	coding	Pathogenic/Likely_pathogenic
2	181538228	T	TAAGTC	T181538234A	CERKL	NM_201548.5(CERKL):c.1550_1554dup:p.Ile519fs	coding	Pathogenic
2	181539198	C	CTACT	A181539199T	CERKL	NM_201548.5(CERKL):c.1431_1432insAGTA:p.Gly478fs	coding	Pathogenic
2	181539225	CT	C	T181539227C	CERKL	NM_201548.5(CERKL):c.1404del:p.Glu468_Val469insTer	coding	Pathogenic
2	181547697	CCT	C	C181547698G	CERKL	NM_201548.5(CERKL):c.1187_1188del:p.Gln396fs	coding	Pathogenic
2	181547823	AGATT	A	G181547824T	CERKL	NM_201548.5(CERKL):c.1154_1157del:p.Lys385fs	coding	Pathogenic
2	181547835	TC	T	C181547838T	CERKL	NM_201548.5(CERKL):c.1145del:p.Gly382fs	coding	Pathogenic
2	181547842	GC	G	C181547845T	CERKL	NM_201548.5(CERKL):c.1138del:p.Ala380fs	coding	Pathogenic
2	181548673	GACTT	G	C181548679A	CERKL	NM_201548.5(CERKL):c.1073+3_1073+6del	noncoding	Pathogenic/Likely_pathogenic
2	181548784	CAT	C	A181548785G	CERKL	NM_201548.5(CERKL):c.967_968del:p.Met323fs	coding	Pathogenic
2	181558605	GA	G	A181558606G	CERKL	NM_201548.5(CERKL):c.780del:p.Pro261fs	coding	Pathogenic
2	181566089	G	GC	A181566091C	CERKL	NM_201548.5(CERKL):c.645dup:p.Leu216fs	coding	Pathogenic
2	181573799	CT	C	T181573801C	CERKL	NM_201548.5(CERKL):c.566del:p.Lys189fs	coding	Pathogenic
2	181573824	TC	AA	T181573824A	CERKL	NM_201548.5(CERKL):c.541_542delinsTT:p.Glu181Leu	coding	Pathogenic
2	181603866	CAT	C	A181603869G	CERKL	NM_201548.5(CERKL):c.448_449AT[1]:p.Ile150fs	coding	Pathogenic
2	181603897	TA	T	A181603899G	CERKL	NM_201548.5(CERKL):c.420del:p.Ile141fs	coding	Pathogenic
2	181603990	TAACAG	T	G181603995A	CERKL	NM_201548.5(CERKL):c.323_327del:p.Cys107_Ser108insTer	coding	Pathogenic
2	181604082	G	GA	T181604092A	CERKL	NM_201548.5(CERKL):c.239-12dup	noncoding	Benign/Likely_benign
2	181656784	GC	G	C181656785T	CERKL	NM_201548.5(CERKL):c.222del:p.Gln74fs	coding	Pathogenic
2	181656804	A	AGTGC	T181656809G	CERKL	NM_201548.5(CERKL):c.199_202dup:p.Leu68fs	coding	Pathogenic
2	181678244	T	TG	C181678252G	NEUROD1	NM_002500.4(NEUROD1):c.616dup:p.His206fs	coding	Pathogenic
2	182926844	CTA	C	A182926846T	NCKAP1	NM_013436.5(NCKAP1):c.3240_3241del:p.Asn1080fs	coding	Pathogenic
2	185753760	AC	A	C185753761A	FSIP2	NM_173651.4(FSIP2):c.910del:p.Gln304fs	coding	Pathogenic
2	185788743	AAAGATTGCA	TGT	A185788743T	FSIP2	NM_173651.4(FSIP2):c.1607_1616delinsTGT:p.Lys536fs	coding	Pathogenic
2	185789414	G	GA	T185789419A	FSIP2	NM_173651.4(FSIP2):c.2282dup:p.Asn761fs	coding	Pathogenic
2	185805693	GAAAT	G	A185805699G	FSIP2	NM_173651.4(FSIP2):c.16389_16392AATA[1]:p.Asn5465fs	coding	Pathogenic
2	187363386	GCTA	G	C187363390A	CALCRL	NM_005795.6(CALCRL):c.611_613TAG[1]:p.Val205del	coding	Pathogenic
2	188984760	CT	C	T188984761G	COL3A1	NM_000090.3(COL3A1):c.81del:p.Val28fs	coding	Pathogenic
2	188985738	GC	G	C188985744T	COL3A1	NM_000090.3(COL3A1):c.413del:p.Pro138fs	coding	Pathogenic
2	188987089	G	GT	C188987091T	COL3A1	NM_000090.3(COL3A1):c.479dup:p.Lys161fs	coding	Pathogenic
2	188988082	GC	G	C188988088A	COL3A1	NM_000090.3(COL3A1):c.536del:p.Pro179fs	coding	Pathogenic
2	188988106	CT	C	T188988107G	COL3A1	NM_000090.3(COL3A1):c.555del:p.Gly186fs	coding	Pathogenic
2	188988135	G	GT	A188988137T	COL3A1	NM_000090.3(COL3A1):c.582+2dup	noncoding	Pathogenic
2	188988139	GTATAGC	ACA	G188988139A	COL3A1	NM_000090.3(COL3A1):c.582+5_582+11delinsACA	noncoding	Pathogenic
2	188988189	ATATATATTCTGCTATAATTCAGCCATTCCAGCATGCATAATCCCAGTTAACTAGAGAAATCATAACCAAGAAACTGATTAAGGCTTCAAAGATGGAATTCCATATTTAATTCCTTTCCACCAACAGTTATTAGCAATTGAAATCTTGGTAAAATTAAACCACATTAATTTGCATGTAATATGACTTTTAGTTCAAAACCATTCAGTTTTGATGGATTGCAATGAATGGAATGAAATACATTAACTTCATTCTGATCTAAAAATAATTTGGTCTCAATATTTATAAACTGGAGTAAAATTTGCTGATTACATTCACAATCCTGATTTCTTACTGTCAAGATGTAAATGAATTATATGAAGATTTTGTTACTTTAAAATTATTTACATATTCTACTCACTAGGGATCTCCAGGATACCAAGGACCCCCTGGTGAACCTGGGCAAGCTGGTCCTTCAGTAAGTAACAATTAAATTTATATTTAGTAAGTCGATAATTCCATATGGAACCTACCTTTGTTTTCTAAAACAAGTATAGGTCTTTACAGAATGAAGATTAAATTTACCCTTAAGTTTGTAAATAACGAATAGCATTTTATTGAGTCTTTTGGACTCTTTCAATTGTTAGCTATCTTAGAGACACTAGTTAATAAAGGAATTCCCTCATCATTAGCCATCAAAATAGTCCACTTCCCAGAGCTGATAAAAATTCTGTATATATTAAATATAGATTTCATTTTTCTGTAAACACTCAGTTCACTCATATCTAATCTACTGATAAATATAGTTATATATTTACATATGTAAATATACATATACATATATCTTAGACAGTAGAAATAAACATAATCTTAGAGAGTCCTTTAGAAGGATATGCTCTGTAAATAAGCAAGTAAAATAGTTTAAATACAACATTTCATGACATTTAGAAATACCTTTATATTTAGATATATTTAATATTCCTAAACGTGTAGAAATGCATTTGGATTTATAAATACACATACGTAATATATGATGCTTTTAATTTTTATTAACAGTAAGTTGATATAATAGAGGTATAATATTAACTCAGTAAGTATCATTTTCATTATCAGAAACATTAAAAGTATTTTCTAAAAGGAGGTTCCTTCCAGGAATACATACACTGTGTAATAATAAATTGTAACAGAAAAATTTACAAATCTATTCATTTTTTATTTCCTTATTTTCAGGGCCCTCCAGGACCTCCTGGTGCTATAGGTCCATCTGGTCCTGCTGGAAAAGATGTAAGTTTTTAAAACTTAAATAAGAATACAGCAAAATTTAACTTGGTGTATTCTAAACAGTATATGCTTTATGTCAGAATCCCAGAAGAAAAAAAAATGTTATTCAAAATATTGTTGTCTTAACAACATTTTAGTTAATACTAATTTTTGAGTAGCTATACAGTATTTGCGTTTCTATATATATCATTTGTTGAATTCCAAAATAAAATCCTTAAAGTGCTTTTTGACTGCGGAGAAGACTCATCCATTGAATATATTATTTAACTGGAGGAGAAATAGGTGTCTCTGCCTGCCTCTTTTAATGATGAAATTGATACCACTATTTAATGAACTTGAGAAGTTATAGATACCTTCAATTCAATGGCATTCCTTCTTTCCCTCTTAATCTCCAATGGCAAATTCTTTTCACTGGCTTATGTTATTTCAGTGATTAGAAGCACCTGCATTATCTCTTTATAAGCTTATATCAAAGTGGGAAAGGTCTTCCTCATGCCTTCTACCAAGAAAGCTGATCTCAACTATACATTTTGTGGAACCATTTTAATGAGTCCTTTGTGAGAAAAATGCAAAGTAACCATTTTGCTTATTGGCTACAATGTATTTTCTCATACATGAGCACCTACGTATTCTTTATTTCTCTACCTAGGGAGAATCAGGTAGACCCGGACGACCTGGAGAGCGAGGATTGCCTGGACCTCCAGTGAGTCTTCAGCATCTAATAAATTAATTGGAATAATCTTAGCTTGAAAACTATTATGTAATTCAATGGAATTAAACTTAAAAACAGAAAGTGTTTTACTACTAGATTGTGATTCTATTTGAAGGTTCATTAATATTTTTTCATTCATTATTTTTAGGGTATCAAAGGTCCAGCTGGGATACCTGGATTCCCTGGTATGAAAGGACACAGAGTAAGTAGAGTTTCTAAGTTGTTTACAAGGTATTCCACTGGGCTATGTTTACTTGCCTAACCAATTTTACTGGACAATTATGTGCCAAAAAATATGATTCTGACAATTAATTAATTTGATATTTTTAAGTCTACTAAGTTTGTTTGTTGACCAAACTAGTCATTTTTTGCAAAATAAAGGAGTTGATTTCTAGTGTATAAAGTACTCTTGAAAAATATCGTTTTCTTACTACCACTATCAGAAAAATAAAAACATTTTGTGAATTATGTTTTTTATTGACTTAATATGATTTATAGATTGAGTTGAACAACTTTATTCTA	TATGCAAAATCAAAC	A188988189T	COL3A1	NM_000090.3(COL3A1):c.582+55_798+320delinsTATGCAAAATCAAAC	noncoding	Pathogenic
2	188988610	AC	A	C188988615T	COL3A1	NM_000090.3(COL3A1):c.608del:p.Pro203fs	coding	Pathogenic
2	188988621	A	AACCTGGGCAAGCTGG	T188988637A	COL3A1	NM_000090.3(COL3A1):c.615_629dup:p.Gly207_Pro211dup	coding	Pathogenic
2	188988638	CCTTCAGTAAGT	TACTAAATATA	C188988638T	COL3A1	NM_000090.3(COL3A1):c.631_636+6delinsTACTAAATATA:p.Gly195_Ser212del	coding	Pathogenic
2	188990327	GA	G	A188990328T	COL3A1	NM_000090.3(COL3A1):c.766del:p.Ile256fs	coding	Pathogenic
2	188990995	AT	A	T188990998C	COL3A1	NM_000090.3(COL3A1):c.799-6del	noncoding	Benign/Likely_benign
2	188991707	A	ACT	T188991710C	COL3A1	NM_000090.3(COL3A1):c.937_938dup:p.Pro314fs	coding	Pathogenic
2	188991716	GGCTGCAGTGAGTATA	G	A188991722T	COL3A1	NM_000090.3(COL3A1):c.951_951+14del:p.Gly300_Ala317del	coding	Pathogenic
2	188991724	TGA	T	A188991726T	COL3A1	NM_000090.3(COL3A1):c.951+4_951+5del	noncoding	Pathogenic
2	188992187	GCTCGGGGTAATGACGGTGC	TTTACATCGAGGGTTTTAAAGTTTACA	G188992187T	COL3A1	NM_000090.4(COL3A1):c.955_974delinsTTTACATCGAGGGTTTTAAAGTTTACA:p.Ala319fs	coding	Pathogenic
2	188993372	A	ACCTGCAGAC	G188993380A	COL3A1	NM_000090.3(COL3A1):c.1069_1070insACCCTGCAG:p.Gly357_Ser358insAspProAla	coding	Pathogenic
2	188993402	CCCTGGACAAAGAGGAGAA	C	A188993410C	COL3A1	NM_000090.3(COL3A1):c.1100_1117del:p.Gln367_Gly372del	coding	Pathogenic
2	188993412	AGAG	A	G188993416A	COL3A1	NM_000090.3(COL3A1):c.1105_1107delGGA:p.Gly369del	coding	Pathogenic
2	188993484	TAAGCATAGTTTCATGCTTACTCCATGA	T	A188993518G	COL3A1	NM_000090.3(COL3A1):c.1149+59_1149+85del	noncoding	Benign
2	188994037	GGGCCCTCCTGGGATTAA	CCGTCCTGGGCCCTGGTGGTATACAAACCTGGTATACCACC	G188994037C	COL3A1	NM_000090.4(COL3A1):c.1150-1_1166delinsCCGTCCTGGGCCCTGGTGGTATACAAACCTGGTATACCACC	coding	Pathogenic
2	188994074	GGCGAAATGGTAAGCTGTCCCCACTCCTCA	G	G188994077C	COL3A1	NM_000090.3(COL3A1):c.1189_1194+23del:p.Gly384_Met398del	coding	Pathogenic
2	188994785	CT	C	T188994786G	COL3A1	NM_000090.3(COL3A1):c.1410del:p.Gly471fs	coding	Pathogenic
2	188994817	GC	G	C188994818T	COL3A1	NM_000090.4(COL3A1):c.1442del:p.Ala481fs	coding	Pathogenic
2	188994960	ATGACATAAAAATATTTGCCACTCAAGAATTATGAAAAAGAATTGAAATCCTTTGGACTGAAATACTTGTCTTTCATTATTTTCAGGGTGCCCCTGGGTTCCGAGGACCTGCTGGACCAAATGGCATCCCAGGAGAAAAGGTAGATAACTTTAGTTTCTATGTTCCTAAATGCTAGCACCACAAATGGGCAGTTCTTGTATACAATTTCTCATTCATGAAAACCTAAATATCTGAAGAATATATATTAGAGTTAAGAAAAATTCCTAATATAATGCATCCTCTGTTCAACAACTTTCCTGGCTTTGTAACTAAAGCCACTTACTTACCCTCTATGAGAATCCTTTACTTATCTGTTAATTGGAAAGCATTTATCTGAGCATCGTTGCAAGAGTACAGTAAACTAAAATGCCTGAAAAGTCTTTGAAAACTCTAAGGTTACATCAAATATGATTTCATAGCATTAAGATATTTGATTTTAGCTGCACATAATTATATTTTTAAGCACAGTGAATACTGTTTTATTAAGCATGTGATGTTCACAAAGTTGCTTTAAAATTTTTTCAATATGGCAATCCAAGCTAAGATAACTGATTTTATGTATAAATGTTTCAGCAACACACGAACCCTTTTTAAAAGTTCAAATGACGTCCTCTCTTTGTAACCAAAATATTGTTGCTATCTAGGTTAGTGAAGGCTATTTTAATTTTTTTAAAATTTCTTTCACTACTTAGGGTCCTGCTGGAGAGCGTGGTGCTCCAGGCCCTGCAGGGCCCAGAGGAGCTGCTGGAGAACCTGGCAGAGATGGCGTCCCTGGAGGTCCAGGAATGAGGGTACAGAGAAACATTTGTTTGAATGACACTTTAATTTAGACAGAAGAAAGGCAAGACAAATGAAGACAGATCAAAAGCAACTTAAATCAATCAGATTACATATTTTGTAAGGCACCAAACAAAACAAAATTCTTTTAAGTAAACTTAAGCCGAGATAGTTCAAGGAGAAGAGAAGATAGAACACTTGCCTTAGATACTTTATAGACAGGAAAAAAGATGTGCAAATCTGAGGCTTCACATGTAAGTGAAAATATCAAAATCATACAAATAGTGTATGTAGTAATTTTTTATTATTTCATTTTAAATCACCTAACAACTGACTTCTTTACTTCAGGGCATGCCCGGAAGTCCAGGAGGACCAGGAAGTGATGGGAAACCAGGGCCTCCCGTATGTACATTTTTAAAATCTCATTTTAAAAGGCCAGTTAAAATGGAATGTATATGTTGGCCTATCCTTGAGTGTGTGTGTGTGTGTGTGTGTATATATATATATGTATATGTATATCTATATATATACACACACACACACACACACACATACTATATATATAGCATGCTTTAATCTTCTCTTTATCAAACCTTTATTAATGTAATTTTTTCTTATTAGGGAAGTCAAGGAGAAAGTGGTCGACCAGGTCCTCCTGGGCCATCTGGTCCCCGAGGTCAGCCTGGTGTCATGGGCTTCCCCGGTCCTAAAGGAAATGATGTGAGTTCCTTCATTAATTTCTTCAATAAATATTTGACTGGAAGGCTTTTATTTTCCATATGGAGTAAAGAAATGGTCAAAACTCAGTCTCCTCTTCAAAGCATGGAGGAGTATATGAAAATCAAATTGCATGTAGGAAGGGAGCTAAATATATAATTGGTTATGGTTGTATGTGTGTGTATGGAGCAGGCAGATAAAAAATATGAAACAGGCTGGGTGCGCTGGCTCACGCCTGTAATCCCAGCACTCTGGGAGGCCAAGGCAGGCAGATCACCTGAGGTCAGGAGTTCTAGGCCAGCCTTGCCAACATGGTGAAACCCTGTCTCCACTAAAAATACAAAAATTAGCCAGGCATGGTGGCATGTGCCTGTAATCCTAGCTACCCAGGAGGCTGAGGCAAGAGAATCACTAGAACCCGGGGGGCAGAGGCTACAGTGAGCCAAGATTGCGCCACTGCACTCCAGCCTGGGCGACAGAGCAAGACTCAGTCTCAAAAATATGTATGTGTGTGTGTGTATATATATATATGAGACATATATATATGAGACATATATATATGAGACATATATATATGAGACATATATATATGAGACATATATATATGAGACAATAATATGATTAGTTATTGCCCTTTGAGGATTAGTAAATACCGACCACTTCTTCTTTAGGGTGCTCCTGGTAAGAATGGAGAACGAGGTGGCCCTGGAGGACCTGGCCCTCAGGTACGTAGCTTTCCTCAATTTATTTCTAGCCTTCTAATAGATGCGTTCATCTCCAACCTTCTGACTTCTCTCTGTAATCTGTATTATTTCTACTTCCCTAACTGTTCTTGTTTTTAGGGTCCTCCTGGAAAGAATGGTGAAACTGGACCTCAGGGACCCCCAGGGCCTACTGTAAGTTCACTCATATAAAATTGGAGATGAAAATAGGGTGGAGGTGGGGCAGGAAGAATGCTTCAAAAATTACATAATCTCTGACACCATGTTGTTACAGTTTACCAAAGCAATGATGAAACTTGCTGACCTAGTTATCTAGCTAAATGCTAGCATTGAGTTTAGAGTGTACATGTGTGCTTTGGGTCCAGGTCCTCCCTTTTCTTCACATCACTACTTTTATAATTAAGCAACAGGCCTGTTGAAATGGATACTGTAGACTAAATATAAAAGGATGTTTACAACAGAGTGTATCATTATACTTTTCTAGGGGCCTGGTGGTGACAAAGGAGACACAGGACCCCCTGGTCCACAAGGATTACAAGTAAGAACTTGTTATTTAAATGTCACGGCATATCTGACTGTCAAATTTTTTTGTGTCCCTAATAGATTATAATTTATCTGAAGCTTAACTTGTGATTCTGTCTTTCATCTGGAAATAAAATTTTAGGCAATGTTAATAGGTAGGCATATCTTCCATGTCCGTTCCAGAGCACATTAATAAGTTATTTAAAAGAATTAATGAAACTCAAATAATTCTATTTGGTTACACTTATTTTTATTATAACATAAATCCATATAGCCAAGTCTATCCTGCCATGCTGGTCAATACATTTTTACGTGTAGCAATTGAAAGAACAGAGAGAGATGAAAATGGGTTTGTAAAATATGATTATCACGTATGTGTCACTGGATTTTGAGTGGCACAACGTTTCTACCCCTACAAGACCACTGGAACTTTTTTTTAATATCTTGCAGAAACATGTGTACATATGAGAAGCTTTTCTATAAGCCATGTTTGAGGTAATTACCTAATACAAATATGATTCTTTCTAGGGCTTGCCTGGTACAGGTGGTCCTCCAGGAGAAAATGGAAAACCTGGGGAACCAGTAAGTTACGTTTCATTATTCAAAACTCAGAAACAAAAAGAATACACACTGTTTGTTTGTCAACTATTAACTTCTTAATTTTCTTATGCCATGATATTTGAGATTTAACATTTAGTTTTGAAATATTATCAAAACAAAGACAAATTATTTAAAAGATAACTATTATATAGAGTT	A	C188994964A	COL3A1	NM_000090.3(COL3A1):c.1455+133_1978-178del:p.Gly486_Pro659del	noncoding	Pathogenic
2	188995032	TTCATTATTTTCAGGGTGCCCCTGGGTTCCGAGGACCTGCTGGACCAAATGGCATCCC	T	T188995033A	COL3A1	NM_000090.3(COL3A1):c.1456-13_1499del:p.Gly486_Lys503del	noncoding	Pathogenic
2	188996123	AG	A	G188996126C	COL3A1	NM_000090.3(COL3A1):c.1610delG	noncoding	Pathogenic
2	188996166	AC	A	C188996168A	COL3A1	NM_000090.3(COL3A1):c.1652del:p.Pro551fs	coding	Pathogenic
2	188996179	G	GT	A188996181T	COL3A1	NM_000090.3(COL3A1):c.1662+2dup	noncoding	Pathogenic
2	188996303	T	TACACACAC	T188996305C	COL3A1	NM_000090.4(COL3A1):c.1663-94_1663-93insCACACACA	noncoding	Benign
2	188996498	TGA	T	A188996500T	COL3A1	NM_000090.3(COL3A1):c.1761+4_1761+5del	noncoding	Pathogenic
2	188996507	TCATTAATTTCTTCAATAAATATTTGACTGGAAGGCTTTTATTTTCCATATGGAGTAAAGAAATGGTCAAAACTCAGTCTCCTCTTCAAAGCATGGAGGAGTATATGAAAATCAAATTGCATGTAGGAAGGGAGCTAAATATATAATTGGTTATGGTTGTATGTGTGTGTATGGAGCAGGCAGATAAAAAATATGAAACAGGCTGGGTGCGCTGGCTCACGCCTGTAATCCCAGCACTCTGGGAGGCCAAGGCAGGCAGATCACCTGAGGTCAGGAGTTCTAGGCCAGCCTTGCCAACATGGTGAAACCCTGTCTCCACTAAAAATACAAAAATTAGCCAGGCATGGTGGCATGTGCCTGTAATCCTAGCTACCCAGGAGGCTGAGGCAAGAGAATCACTAGAACCCGGGGGGCAGAGGCTACAGTGAGCCAAGATTGCGCCACTGCACTCCAGCCTGGGCGACAGAGCAAGACTCAGTCTCAAAAATATGTATGTGTGTGTGTGTATATATATATATGAGACATATATATATGAGACATATATATATGAGACATATATATATGAGACATATATATATGAGACATATATATATGAGACAATAATATGATTAGTTATTGCCCTTTGAGGATTAGTAAATACCGACCACTTCTTCTTTAGGGTGCTCCTGGTAAGAATGGAGAACGAGGTGGCCCTGGAGGACCTGGCCCTCAGGTACGTAGCTTTCCTCAATTTATTTCTAGCCTTCTAATAGATGCGTTCATCTCCAACCTTCTGACTTCTCTCTGTAATCTGTATTATTTCTACTTCCCTAACTGTTCTTGTTTTTAGGGTCCTCCTGGAAAGAATGGTGAAACTGGACCTCAGGGACCCCCAGGGCCTACTGTAAGTTCACTCATATAAAATTGGAGATGAAAATAGGGTGGAGGTGGGGCAGGAAGAATGCTTCAAAAATTACATAATCTCTGACACCATGTTGTTACAGTTTACCAAAGCAATGATGAAACTTGCTGACCTAGTTATCTAGCTAAATGCTAGCATTGAGTTTAGAGTGTACATGTGTGCTTTGGGTCCAGGTCCTCCCTTTTCTTCA	T	T188996511C	COL3A1	NM_000090.3(COL3A1):c.1761+15_1870-100del:p.Gly588_Thr623del	noncoding	Pathogenic
2	188997166	GTGCTCC	TAAG	G188997166T	COL3A1	NM_000090.3(COL3A1):c.1763_1769delinsTAAG:p.Gly588_Pro590delinsValSer	coding	Pathogenic
2	188997175	G	GT	A188997177T	COL3A1	NM_000090.3(COL3A1):c.1773dupT:p.Lys592Terfs	coding	Pathogenic
2	188997209	TG	T	G188997211C	COL3A1	NM_000090.3(COL3A1):c.1808del:p.Gly603fs	coding	Pathogenic
2	188997350	GAA	G	A188997351T	COL3A1	NM_000090.3(COL3A1):c.1831_1832del:p.Asn611fs	coding	Pathogenic
2	188997374	A	AC	A188997380C	COL3A1	NM_000090.4(COL3A1):c.1859dup:p.Gly621fs	coding	Pathogenic
2	188997739	CCA	C	C188997742A	COL3A1	NM_000090.4(COL3A1):c.1910_1911CA[1]:p.Gln638fs	coding	Pathogenic
2	188997751	CAAGT	C	T188997755A	COL3A1	NM_000090.3(COL3A1):c.1923+2_1923+5del:p.Gly624_Gln641del	coding	Pathogenic
2	188998314	GAACCAGTA	G	A188998316G	COL3A1	NM_000090.3(COL3A1):c.1974_1977+4del	coding	Pathogenic
2	188998665	ATCTCCCAGGG	A	T188998668C	COL3A1	NM_000090.3(COL3A1):c.1978-6_1981del:p.Gly660_Lys662del	noncoding	Pathogenic
2	188999317	TC	T	C188999319T	COL3A1	NM_000090.3(COL3A1):c.2057del:p.Pro686fs	coding	Pathogenic
2	188999359	TC	T	C188999364T	COL3A1	NM_000090.3(COL3A1):c.2102del:p.Pro701fs	coding	Pathogenic
2	188999375	GGAGGAAAGGT	G	G188999376A	COL3A1	NM_000090.4(COL3A1):c.2114_2121+2del	coding	Pathogenic
2	188999469	GGGTGCTGCTGGTCCTCCTGGGCCACCT	G	C188999482A	COL3A1	NM_000090.3(COL3A1):c.2134_2160del:p.Pro712_Gly720del	coding	Pathogenic
2	188999482	CCTCCTGGGCCACCTGGTGCTGCTGGTA	C	G188999490T	COL3A1	NM_000090.3(COL3A1):c.2142_2168del:p.Pro715_Gly723del	coding	Pathogenic
2	189001616	AC	A	C189001617T	COL3A1	NM_000090.3(COL3A1):c.2391+28del	noncoding	Benign
2	189002294	TCAGGGTG	T	C189002295A	COL3A1	NM_000090.3(COL3A1):c.2392-3_2395del	noncoding	Pathogenic
2	189002352	G	GT	A189002354T	COL3A1	NM_000090.3(COL3A1):c.2445+2dup	noncoding	Pathogenic
2	189002994	GCTCCGGGTGAGAAAGGTGAAGGAGGCC	G	G189002999T	COL3A1	NM_000090.3(COL3A1):c.2490_2516del:p.Glu832_Gly840del	coding	Pathogenic
2	189003038	A	AC	T189003044C	COL3A1	NM_000090.3(COL3A1):c.2534dup:p.Gly846fs	coding	Pathogenic
2	189003062	TG	T	G189003063T	COL3A1	NM_000090.3(COL3A1):c.2553+1del	coding	Pathogenic
2	189003766	TC	T	C189003768T	COL3A1	NM_000090.3(COL3A1):c.2642del:p.Pro881fs	coding	Pathogenic
2	189003781	TAGTAATGTAAGTA	GACCTGAGAC	T189003781G	COL3A1	NM_000090.3(COL3A1):c.2655_2661+7delinsGACCTGAGAC:p.Ser886Thrfs*2	coding	Pathogenic
2	189004260	GC	G	C189004261T	COL3A1	NM_000090.3(COL3A1):c.2828del:p.Ala943fs	coding	Pathogenic
2	189005368	GG	AC	G189005368A	COL3A1	NM_000090.3(COL3A1):c.2950_2951delinsAC:p.Gly984Thr	coding	Pathogenic
2	189005609	AGGATAGACTTAAAAGCTCTTGTTCATTAGTATTTACCCAATGAATAATCATTTGTGGAGAAAATATTATCTCTAACTAAATTAGGAAAAAAGTTAGTGGGGAGAACCACAATTGACATGTTTTCTGAGTGAAAATATTCTACGGTTATCTATGGTTAGTCTTTTATTATTTTTAAAGAATTTAAAATTAATATTATTTATAATTAACAAATCATAATTGTATACATTTATAAGGTACAATGTGATGTTTTAATATATGTATACAATGTGGAATGATTAAAGCAAACTAATTAAACTGTAGATTTCCACTAACAGTTTAGATCACTATTTCTTAAACTTTTATTTATTAGAGGTCTGTAAAGACTCTTTTTGGATATCATTTTTCTAATCACCTCTCCTCCATGAATACACTAACTATCTGTCTGGACATTGTGACCCTTTGAAGGGCCACACTGCTTTGTAATATCTAAGATTTCTTACCCCCAAGAACCAATTTTAACCCCCTTGAGAATTATATTGCCCTGCTGAGAATGCATGGATGAAATGGCATTTGGAAGGTTTCAAGAAATTTTATTTCCTTTCTCATTTTTTAATCAGGGAAACCCTGGATCAGATGGTCTTCCAGGCCGAGATGGATCTCCTGGTGGCAAGGTATAATAAACACATGTGCAATTGATTTGTGTTATCAAAATAAGTGATCATCATGTTTATTTTGTACCTATGAATTTGTTCACAGGGTGATCGTGGTGAAAATGGCTCTCCTGGTGCCCCTGGCGCTCCTGGTCATCCAGGCCCACCTGGTCCTGTCGGTCCAGCTGGAAAGAGTGGTGACAGAGGAGAAAGTGTGAGTTCCCAAAAGCAGCATCTGTCTTGTTTGTCTATTTCCTTCAATAAAGACATTTGTAGGTAGAAGGTAGAATGTCAGATCTGCCAACCAAAATATCCACTGTCATTTGTTTTACAGTTTTAATGCTAGTTGTTCCTTAGACAAATGTGTGAATAAGTCAATACCAGAAGTACTTGGCAGTAGTCAATAAAGAATTCATTACTGAAACCCGAAATCATATTAATCAGACCAACTATCTATATGCTGGGTAAATGCAAGGCCAAGTTAACAGGGCTCTTGCCCAACTTTTCTGTCTAGATCCCCTGAGAAAGCTATAAACAGGGCTTTAGCACTTTGAAGGCAAAAACAATATTAACTTCCAATAATTGCATGCATACTATAATTCTATTATAATGAAATTATTTACTTTTGAAAACGAAATTGTGTCAACACATAAAACTAGTTCCGTGTATGTCTTCTCAATTGAATGTTTTCATCTTAGGGCCCTGCTGGCCCTGCTGGTGCTCCCGGTCCTGCTGGTTCCCGAGGTGCTCCTGTAAGTTTTGTCATTTTTTGGTTTTATTTTGTTTTGTTCTTTTTTTAACTCATTCTACAGTGTAGGAAATATTTTATTTTCCAGCGTGTTCAGGAAAAAAGAATGAATATATATATATATATATATATATATATATATATATATATATATTTGTTCTATCTATAGATAGATGATAGATAGATAGATAGATAGATAGATAGATAGATAGATAGATAGATAGAACAAATATAAACTTTCCTTTAATGACAATGATATGGAAAGCAGTTCAGGATCTAAAAGTTCTTTGGAGCCAAGGATAGAAACATCAGTTGTTAGGGATCCATGCAATGATCAGTCCAAAATGAAAACAACCACAGAAACAAATCTCATTTCCTATCTGAAGTGTCTGTTGATGGGGGATTTTTTAGCTGATAGAAAGCCATAAAATAGATTTAATTATTATAAATTCTATTTTATTTTTCCAATATGTATGTGTGTATATGACTTCAATTCAAAATATGTTTCTAAAGGGTCCTCAAGGCCCACGTGGTGACAAAGGTGAAACAGGTGAACGTGGAGCTGCTGGCATCAAAGGACATCGAGGATTCCCTGGTAATCCAGGTGCCCCAGGTTCTCCAGTAAGTGCATTCATTTTGTTGGAAAATCCCTTCAATGTATACAAATTTTAGAGATTAAGAGAAGAAAGCTTTCCATCTCTAAAAATATGTACTAGAAGAGATGAGAAATGGATTTGAAGGCTAATTTGAAACAACAATCAGCATGACACAATGGGAAGATTAAAGAAAGAAAAAAAATTTCATCATGATCCCCATGTTTCTTGATCTGATCTTGAATGTACAGTTTCCCAGTGCTTTTTAAGGCCTTCACTCCTATGTACACTTCCTTTCTTTCCAGGGCCCTGCTGGTCAGCAGGGTGCAATCGGCAGTCCAGGACCTGCAGGCCCCAGAGTAAGTAGCACAGAAAGATATTACAGGTCCACATGTTTCAGATGTCTGCATTTCAGAAAGATATTCTGGCATTGTGATGTCATGATACTTTCTTAGGGACCTGTTGGACCCAGTGGACCTCCTGGCAAAGATGGAACCAGTGGACATCCAGGTCCCATTGGACCACCAGGGCCTCGAGGTAACAGAGGTGAAAGAGGATCTGAGGTAAGACATCACTTATACGTATGTGTATTTAATTTGCTACAATCTTCCAATTTTCAGAAACACAGCGCATTATGTTTAAATTGAAATAGAGAGACGCAATGCATCCACTCAATTTAGAAACTGAACAATGACTTTAAGACATTCTCCATCACATTAAAAATGTTTCTACCACACTATAACAGGAGAAAAATACCTTTTTAAAAATTTGATCAGGTATCCATC	A	G189005611T	COL3A1	NM_000090.3(COL3A1):c.3039+154_3525+223del	noncoding	Pathogenic
2	189006076	TAAGATTTCTTACCCCCAAGAACCAATTTTAACCCCCTTGAGAATTATATTGCCCTGCTGAGAATGCATGGATGAAATGGCATTTGGAAGGTTTCAAGAAATTTTATTTCCTTTCTCATTTTTTAATCAGGGAAACCCTGGATCAGATGGTCTTCCAGGCCGAGATGGATCTCCTGGTGGCAAGGTATAATAAACACATGTGCAATTGATTTGTGTTATCAAAATAAGTGATCATCATGTTTATTTTGTACCTATGAATTTGTTCACAGGGTGATCGTGGTGAAAATGGCTCTCCTGGTGCCCCTGGCGCTCCTGGTCATCCAGGCCCACCTGGTCCTGTCGGTCCAGCTGGAAAGAGTGGTGACAGAGGAGAAAGTGTGAGTTCCCAAAAGCAGCATCTGTCTTGTTTGTCTATTTCCTTCAATAAAGACATTTGTAGGTAGAAGGTAGAATGTCAGATCTGCCAACCAAAATATCCACTGTCATTTGTTTTACAGTTTTAATGCTAGTTGTTCCTTAGACAAATGTGTGAATAAGTCAATACCAGAAGTACTTGGCAGTAGTCAATAAAGAATTCATTACTGAAACCCGAAATCATATTAATCAGACCAACTATCTATATGCTGGGTAAATGCAAGGCCAAGTTAACAGGGCTCTTGCCCAACTTTTCTGTCTAGATCCCCTGAGAAAGCTATAAACAGGGCTTTAGCACTTTGAAGGCAAAAACAATATTAACTTCCAATAATTGCATGCATACTATAATTCTATTATAATGAAATTATTTACTTTTGAAAACGAAATTGTGTCAACACATAAAACTAGTTCCGTGTATGTCTTCTCAATTGAATGTTTTCATCTTAGGGCCCTGCTGGCCCTGCTGGTGCTCCCGGTCCTGCTGGTTCCCGAGGTGCTCCTGTAAGTTTTGTCATTTTTTGGTTTTATTTTGTTTTGTTCTTTTTTTAACTCATTCTACAGTGTAGGAAATATTTTATTTTCCAGCGTGTTCAGGAAAAAAGAATG	T	G189006079T	COL3A1	NM_000090.3(COL3A1):c.3040-127_3255+107del	noncoding	Pathogenic
2	189006225	GTCT	G	T189006228C	COL3A1	NM_000090.3(COL3A1):c.3062_3064del:p.Leu1021del	coding	Pathogenic
2	189006922	AT	A	T189006923G	COL3A1	NM_000090.3(COL3A1):c.3202-14del	noncoding	Benign/Likely_benign
2	189006948	CCCTGCTGGTGCTCCCGGT	C	G189006958T	COL3A1	NM_000090.3(COL3A1):c.3223_3240del:p.Ala1075_Gly1080del	coding	Pathogenic
2	189007941	AAG	A	A189007942T	COL3A1	NM_000090.3(COL3A1):c.3417+4_3417+5del	noncoding	Pathogenic
2	189008117	GT	AA	G189008117A	COL3A1	NM_000090.3(COL3A1):c.3500_3501delinsAA:p.Gly1167Glu	coding	Pathogenic
2	189008160	CG	C	G189008161T	COL3A1	NM_000090.3(COL3A1):c.3525+19del	noncoding	Benign/Likely_benign
2	189008925	GC	AA	G189008925A	COL3A1	NM_000090.3(COL3A1):c.3527_3528GC>AA	coding	Pathogenic
2	189008973	C	CAGGG	C189008974A	COL3A1	NM_000090.3(COL3A1):c.3575_3576insAGGG:p.Pro1193fs	coding	Pathogenic
2	189009132	TAGAA	T	A189009135C	COL3A1	NM_000090.4(COL3A1):c.3737_3740del:p.Glu1246fs	coding	Pathogenic
2	189009497	C	CA	T189009498A	COL3A1	NM_000090.3(COL3A1):c.3823+276_3823+277insA	noncoding	Benign
2	189010319	AG	A	G189010320A	COL3A1	NM_000090.3(COL3A1):c.3966del:p.Lys1323fs	coding	Pathogenic
2	189010320	GAAGAAA	TT	G189010320T	COL3A1	NM_000090.3(COL3A1):c.3966_3972delinsTT:p.Glu1322fs	coding	Pathogenic
2	189010342	GA	G	A189010343G	COL3A1	NM_000090.3(COL3A1):c.3989del:p.Glu1330fs	coding	Pathogenic
2	189010812	GATGGGGTCAA	G	G189010816A	COL3A1	NM_000090.3(COL3A1):c.4180_4189del:p.Gly1394fs	coding	Pathogenic
2	189011657	CTT	C	T189011659G	COL3A1	NM_000090.3(COL3A1):c.4286_4287del:p.Val1428_Phe1429insTer	coding	Pathogenic
2	189012572	CAG	C	A189012573G	COL3A1	NM_000090.3(COL3A1):c.*799_*800del	noncoding	Benign
2	189034970	GA	G	A189034971T	COL5A2	NM_000393.5(COL5A2):c.4298del:p.Ile1433fs	coding	Pathogenic
2	189051331	C	CT	C189051334T	COL5A2	NM_000393.5(COL5A2):c.2919dup:p.Asp974fs	coding	Pathogenic
2	189051495	GA	G	A189051498G	COL5A2	NM_000393.5(COL5A2):c.2770-15del	noncoding	Benign/Likely_benign
2	189053421	TA	T	A189053422C	COL5A2	NM_000393.5(COL5A2):c.2553+2del	noncoding	Pathogenic
2	189058904	AT	A	T189058916A	COL5A2	NM_000393.5(COL5A2):c.2086-12del	noncoding	Benign
2	189058904	ATT	A	T189058915A	COL5A2	NM_000393.5(COL5A2):c.2086-13_2086-12del	noncoding	Benign
2	189062913	AGCTCCCT	A	G189062914A	COL5A2	NM_000393.5(COL5A2):c.1924-2_1928del	coding	Pathogenic
2	189064108	TG	T	G189064109T	COL5A2	NM_000393.5(COL5A2):c.1717-76del	noncoding	Benign
2	189064273	C	CAAGTA	T189064278A	COL5A2	NM_000393.5(COL5A2):c.1717-241_1717-240insACTTT	noncoding	Benign
2	189079109	TA	T	A189079118T	COL5A2	NM_000393.5(COL5A2):c.961-3del	noncoding	Benign/Likely_benign
2	189079109	T	TA	T189079119A	COL5A2	NM_000393.5(COL5A2):c.961-11dup	noncoding	Benign
2	189084045	G	GA	T189084053A	COL5A2	NM_000393.5(COL5A2):c.799-15dup	noncoding	Benign
2	189086031	C	CAG	T189086034A	COL5A2	NM_000393.5(COL5A2):c.691-261_691-260dup	noncoding	Benign
2	189571741	GCAA	G	C189571751T	SLC40A1	NM_014585.5(SLC40A1):c.476_478TTG[3]:p.Val162del	coding	Pathogenic
2	189580769	T	TCCGCCG	T189580791C	SLC40A1	NM_014585.5(SLC40A1):c.-315_-310dupCGGCGG	noncoding	Benign
2	189580769	T	TCCG	T189580791C	SLC40A1	NM_014585.5(SLC40A1):c.-312_-310dupCGG	noncoding	Benign
2	190244925	GT	G	T190244926A	HIBCH	NM_014362.4(HIBCH):c.852del:p.Leu284fs	coding	Pathogenic/Likely_pathogenic
2	190252215	CT	C	T190252219A	HIBCH	NM_014362.4(HIBCH):c.609del:p.Gly204fs	coding	Pathogenic
2	190290393	GA	G	A190290395T	HIBCH	NM_014362.4(HIBCH):c.385+11del	noncoding	Benign
2	190296902	C	CT	C190296911T	HIBCH	NM_014362.4(HIBCH):c.129dup:p.Gly44fs	coding	Pathogenic
2	190880872	C	CGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA	C190880921G	GLS	NM_014905.5(GLS):c.-212_-210GCA[680]	noncoding	Pathogenic
2	190905110	T	TA	T190905112A	GLS	NM_014905.4(GLS):c.923dup:p.Tyr308Ter	coding	Pathogenic
2	190976971	G	GT	A190976973T	STAT1	NM_007315.3(STAT1):c.1927dup:p.Thr643fs	coding	Pathogenic
2	190978967	GCT	G	T190978971G	STAT1	NM_139266.2(STAT1):c.1758_1759AG[1]:p.Glu587fs	coding	Pathogenic
2	190987072	C	CA	T190987081A	STAT1	NM_007315.3(STAT1):c.1098-12dup	noncoding	Benign
2	190991252	CCT	C	C190991253G	STAT1	NM_007315.4(STAT1):c.1011_1012del:p.Val339fs	coding	Pathogenic
2	191009915	AT	A	T191009918C	STAT1	NM_007315.3(STAT1):c.88del:p.Ile30fs	coding	Pathogenic
2	195891811	GA	G	A195891822C	DNAH7	NM_018897.3(DNAH7):c.4897-8del	noncoding	Benign
2	195895084	A	AT	A195895086T	DNAH7	NM_018897.3(DNAH7):c.4787dup:p.Tyr1596Ter	coding	Benign
2	195897767	TA	T	A195897784C	DNAH7	NM_018897.3(DNAH7):c.4549-3del	noncoding	Benign
2	196242073	CTT	C	T196242075G	HECW2	NM_001348768.2(HECW2):c.3650+9_3650+10del	noncoding	Benign
2	196319543	ACTC	A	C196319547A	HECW2	NM_001348768.2(HECW2):c.1341_1343GAG[1]:p.Arg448del	coding	Benign
2	196844055	T	TTA	C196844056T	PGAP1	NM_024989.4(PGAP1):c.2357_2358insTA:p.Arg786fs	coding	Pathogenic/Likely_pathogenic
2	196875774	CTGTA	C	G196875780C	PGAP1	NM_024989.4(PGAP1):c.1390_1393TACA[1]:p.Ile465fs	coding	Pathogenic
2	196897132	TGTTTA	T	T196897135A	PGAP1	NM_024989.4(PGAP1):c.921_925del:p.Lys308fs	coding	Pathogenic
2	196902723	GT	G	T196902726A	PGAP1	NM_024989.4(PGAP1):c.668del:p.Asn223fs	coding	Pathogenic
2	196920021	CAGG	C	G196920023A	PGAP1	NM_024989.4(PGAP1):c.274_276del:p.Pro92del	coding	Pathogenic
2	197706085	GGGGCAACCCTCAGGCGATCACCCCCGAACCATTTCATCACGTAGTTCTTCAGTGGCTGGACGAGGAGCTGCCCGACCTGTCCGTGTCTCGCAGAAGTAGCCACTTGCACTGGGGCATTCCGGTGCCCGGGGATGATTCGCAGACCATCTATGTATGGCTGGATGCCCTGGTCAACTACCTCACTGTAATTGGCTACCCAAATGCTGAGTTCAAATCTTGGTGGCCGGCCACCTCTCATATCATAGGTAAGGACATTCTCAAATTCCAT	G	G197706087C	MARS2	NM_138395.4(MARS2):c.682_949del:p.Gly228fs	coding	Pathogenic
2	199272391	CCCGTGGTGCTTCACGTGGTA	C	T199272395C	SATB2	NM_001172509.2(SATB2):c.2002_2021del:p.Tyr668fs	coding	Pathogenic
2	199272394	G	GT	G199272396T	SATB2	NM_001172509.2(SATB2):c.2018dup:p.His673fs	coding	Pathogenic
2	199272467	G	GA	G199272471A	SATB2	NM_001172509.2(SATB2):c.1945dup:p.Ser649fs	coding	Pathogenic
2	199272469	AAG	A	A199272472T	SATB2	NM_001172509.2(SATB2):c.1940_1941CT[1]:p.Leu648fs	coding	Pathogenic
2	199272586	GT	G	T199272587C	SATB2	NM_001172509.2(SATB2):c.1826del:p.Asp609fs	coding	Pathogenic
2	199272628	AG	A	G199272632A	SATB2	NM_001172509.2(SATB2):c.1784del:p.Pro595fs	coding	Pathogenic
2	199308771	CA	C	A199308772G	SATB2	NM_001172509.2(SATB2):c.1728del:p.Glu577fs	coding	Pathogenic
2	199308772	AG	A	G199308777A	SATB2	NM_001172509.2(SATB2):c.1727del:p.Pro576fs	coding	Pathogenic
2	199308844	CCT	C	T199308848A	SATB2	NM_001172509.2(SATB2):c.1652_1653AG[1]:p.Arg552fs	coding	Pathogenic
2	199308872	CG	C	G199308873A	SATB2	NM_001172509.2(SATB2):c.1627del:p.Arg543fs	coding	Pathogenic
2	199308888	GGT	G	G199308889T	SATB2	NM_001172509.2(SATB2):c.1610_1611del:p.Asn537fs	coding	Pathogenic
2	199308889	GT	G	T199308893C	SATB2	NM_001172509.2(SATB2):c.1610del:p.Asn537fs	coding	Pathogenic
2	199308907	G	GT	C199308912T	SATB2	NM_001172509.2(SATB2):c.1592dup:p.Asn531fs	coding	Pathogenic
2	199323829	CA	C	A199323832C	SATB2	NM_001172509.2(SATB2):c.1515del:p.Phe505fs	coding	Pathogenic
2	199323829	C	CT	A199323830T	SATB2	NM_001172509.2(SATB2):c.1515_1516insA:p.Ala506fs	coding	Pathogenic
2	199323840	TG	T	G199323841A	SATB2	NM_001172509.2(SATB2):c.1504del:p.Gln502fs	coding	Pathogenic
2	199323951	G	GT	G199323956T	SATB2	NM_001172509.2(SATB2):c.1393dup:p.Thr465fs	coding	Pathogenic
2	199328736	A	AGGAGACCATGCTCACATTG	T199328759G	SATB2	NM_001172509.2(SATB2):c.1329_1347dup:p.Ser450fs	coding	Pathogenic
2	199328769	G	GCTCC	T199328777C	SATB2	NM_001172509.2(SATB2):c.1311_1314dup:p.Arg439fs	coding	Pathogenic
2	199328887	AC	A	C199328888G	SATB2	NM_001172509.2(SATB2):c.1196del:p.Arg399fs	coding	Pathogenic
2	199348741	GAC	G	A199348746T	SATB2	NM_001172509.2(SATB2):c.1127_1128GT[2]:p.Ser378fs	coding	Pathogenic
2	199348767	TCTGA	T	G199348770T	SATB2	NM_001172509.2(SATB2):c.1103_1106del:p.Val368fs	coding	Pathogenic
2	199348978	GA	G	A199348981G	SATB2	NM_001172509.2(SATB2):c.895del:p.Ser299fs	coding	Pathogenic
2	199349064	CTG	C	G199349066T	SATB2	NM_001172509.2(SATB2):c.808_809del:p.Gln270fs	coding	Pathogenic
2	199349151	GTT	G	T199349154C	SATB2	NM_001172509.2(SATB2):c.721_722del:p.Asn241fs	coding	Pathogenic
2	199368710	G	GA	T199368721A	SATB2	NM_001172509.2(SATB2):c.598-13dup	noncoding	Benign
2	199380392	G	GT	G199380394T	SATB2	NM_001172509.2(SATB2):c.568dup:p.Thr190fs	coding	Pathogenic
2	199380407	T	TA	C199380408A	SATB2	NM_001172509.2(SATB2):c.553_554insT:p.Glu185fs	coding	Pathogenic
2	199380478	CT	C	T199380481G	SATB2	NM_001172509.2(SATB2):c.482del:p.Lys161fs	coding	Pathogenic
2	199381797	TC	T	C199381799A	SATB2	NM_001172509.2(SATB2):c.369del:p.Arg122_Trp123insTer	coding	Pathogenic
2	199455874	AC	A	C199455875G	SATB2	NM_001172509.2(SATB2):c.163del:p.Val55fs	coding	Pathogenic
2	199455954	TG	T	G199455959A	SATB2	NM_001172509.2(SATB2):c.83del:p.Pro28fs	coding	Pathogenic
2	199456018	C	CT	C199456020T	SATB2	NM_001172509.2(SATB2):c.19dup:p.Ser7fs	coding	Pathogenic
2	199911732	GC	G	C199911736A	C2orf69	NM_153689.6(C2orf69):c.298del:p.Gln100fs	coding	Pathogenic
2	200490214	AGGCGCGGT	A	G200490220A	KCTD18	NM_152387.4(KCTD18):c.1159_1166del:p.Thr387fs	coding	Benign
2	200571795	CAG	C	G200571799A	SGO2	NM_152524.6(SGO2):c.1451_1452GA[1]:p.Glu485fs	coding	Pathogenic
2	201085443	CT	C	T201085454C	NDUFB3	NM_002491.3(NDUFB3):c.141-5del	noncoding	Benign
2	201085516	AT	A	T201085518C	NDUFB3	NM_002491.3(NDUFB3):c.200del:p.Phe67fs	coding	Pathogenic
2	201209189	G	GA	G201209190A	CASP10	NM_032976.3(CASP10):c.*128_*129insA	coding	Pathogenic
2	201219705	CT	C	T201219723C	CASP10	NM_032974.5(CASP10):c.1416-9210del	coding	Benign
2	201269567	TGT	C	T201269567C	CASP8	NM_001372051.1(CASP8):c.306-1949_306-1947delinsC	coding	Pathogenic
2	201285237	CTG	C	G201285241T	CASP8	NM_001372051.1(CASP8):c.1226_1227GT[1]:p.Val410fs	coding	Pathogenic
2	201287520	G	GAT	G201287531A	CASP8	NM_001372051.1(CASP8):c.*927_*928AT[6]	noncoding	Benign
2	201626118	T	TG	A201626121G	TMEM237	NM_001044385.3(TMEM237):c.1066dup:p.Gln356fs	coding	Pathogenic
2	201628160	TAA	T	A201628163G	TMEM237	NM_001044385.3(TMEM237):c.870-13_870-12del	noncoding	Benign/Likely_benign
2	201640893	C	CT	G201640896T	TMEM237	NM_001044385.3(TMEM237):c.73dup:p.Ser25fs	coding	Pathogenic
2	201704570	GA	G	A201704571C	ALS2	NM_020919.4(ALS2):c.4721del:p.Val1574fs	coding	Pathogenic
2	201706878	A	ATCTG	G201706883T	ALS2	NM_020919.4(ALS2):c.4544_4547dup:p.Ile1517fs	coding	Pathogenic
2	201723334	AT	A	T201723338A	ALS2	NM_020919.4(ALS2):c.3619del:p.Lys1206_Met1207insTer	coding	Pathogenic
2	201727762	T	TGGTGCGTGGA	A201727774G	ALS2	NM_020919.4(ALS2):c.2845_2854dup:p.His952fs	coding	Pathogenic
2	201733317	AAT	A	A201733318T	ALS2	NM_020919.4(ALS2):c.2537_2538del:p.Asn846fs	coding	Pathogenic
2	201744401	CCTGCTGTCACT	C	G201744407T	ALS2	NM_020919.4(ALS2):c.2016_2026del:p.Val673fs	coding	Pathogenic
2	201746695	CAG	C	A201746696G	ALS2	NM_020919.4(ALS2):c.1867_1868del:p.Leu623fs	coding	Pathogenic
2	201757444	CCT	C	C201757447G	ALS2	NM_020919.4(ALS2):c.1425_1426AG[1]:p.Glu476fs	coding	Pathogenic
2	201757444	CCTCT	C	C201757445G	ALS2	NM_020919.4(ALS2):c.1425_1428del:p.Gly477fs	coding	Pathogenic
2	201760985	GTA	G	A201760987G	ALS2	NM_020919.4(ALS2):c.1007_1008del:p.Ile336fs	coding	Pathogenic
2	201761080	AG	A	G201761081T	ALS2	NM_020919.4(ALS2):c.913del:p.Glu304_Leu305insTer	coding	Pathogenic
2	201761255	CTTCT	C	C201761258G	ALS2	NM_020919.4(ALS2):c.735_738del:p.Glu246fs	coding	Pathogenic
2	201761440	GT	G	T201761441G	ALS2	NM_020919.4(ALS2):c.553del:p.Thr185fs	coding	Pathogenic
2	201761717	CAT	C	A201761720T	ALS2	NM_020919.4(ALS2):c.273_274AT[1]:p.Tyr92fs	coding	Pathogenic
2	201767265	CT	C	T201767266G	ALS2	NM_020919.4(ALS2):c.138del:p.Ala47fs	coding	Pathogenic
2	202376528	GC	AT	G202376528A	BMPR2	NM_001204.7(BMPR2):c.-947_-946delinsAT	noncoding	Pathogenic
2	202377481	T	TC	T202377484C	BMPR2	NM_001204.7(BMPR2):c.9dup:p.Ser4fs	coding	Pathogenic
2	202377488	TGCAGC	T	C202377490G	BMPR2	NM_001204.7(BMPR2):c.16_20del:p.Gln6fs	coding	Pathogenic
2	202377492	GC	G	C202377493G	BMPR2	NM_001204.7(BMPR2):c.19del:p.Arg7fs	coding	Pathogenic
2	202377493	CG	C	G202377495C	BMPR2	NM_001204.7(BMPR2):c.21del:p.Trp9fs	coding	Pathogenic
2	202377495	GCCCTGGCG	A	G202377495A	BMPR2	NM_001204.7(BMPR2):c.21_29delinsA:p.Pro8fs	coding	Pathogenic
2	202377497	CCTGGCGGGTGCCCTGG	C	G202377500A	BMPR2	NM_001204.7(BMPR2):c.26_41del:p.Trp9fs	coding	Pathogenic
2	202377516	AC	A	C202377518A	BMPR2	NM_001204.7(BMPR2):c.44del:p.Pro15fs	coding	Pathogenic
2	202464772	TAAATAATTTGTCATTCCTTTATTTCCTTTATTTTAGCTTCGCAGA	T	A202464774T	BMPR2	NM_001204.7(BMPR2):c.77-35_86del	noncoding	Pathogenic
2	202464825	A	AT	C202464826T	BMPR2	NM_001204.7(BMPR2):c.93_94insT:p.Arg32fs	coding	Pathogenic
2	202464834	TG	T	G202464835C	BMPR2	NM_001204.7(BMPR2):c.103del:p.Ala35fs	coding	Pathogenic
2	202464846	TC	T	C202464848G	BMPR2	NM_001204.7(BMPR2):c.116del:p.Pro39fs	coding	Pathogenic
2	202464873	T	TG	A202464875G	BMPR2	NM_001204.7(BMPR2):c.142dup:p.Glu48fs	coding	Pathogenic
2	202464883	ATC	A	T202464888A	BMPR2	NM_001204.7(BMPR2):c.152_153TC[2]:p.Ser52_His53insTer	coding	Pathogenic
2	202464897	TG	T	G202464900A	BMPR2	NM_001204.7(BMPR2):c.168del:p.Thr57fs	coding	Pathogenic
2	202464903	A	AAT	T202464908A	BMPR2	NM_001204.7(BMPR2):c.172_173AT[3]:p.Leu59fs	coding	Pathogenic
2	202464915	G	GA	G202464919A	BMPR2	NM_001204.7(BMPR2):c.186dup:p.Gly63fs	coding	Pathogenic
2	202464918	A	ATACC	G202464919T	BMPR2	NM_001204.7(BMPR2):c.186_187insTACC:p.Gly63fs	coding	Pathogenic
2	202464919	GGTAGCACCTGCTATGGCCTTT	G	T202464921G	BMPR2	NM_001204.7(BMPR2):c.189_209del:p.Ser64_Trp70del	coding	Pathogenic
2	202464921	TAGCACCTGCTATGGCCTT	GGAGCATAATCAAA	T202464921G	BMPR2	NM_001204.7(BMPR2):c.189_207delinsGGAGCATAATCAAA:p.Ser64fs	coding	Pathogenic
2	202464931	T	TA	T202464933A	BMPR2	NM_001204.7(BMPR2):c.200dup:p.Tyr67Ter	coding	Pathogenic
2	202464967	CT	C	T202464969G	BMPR2	NM_001204.7(BMPR2):c.237del:p.Leu79_Val80insTer	coding	Pathogenic
2	202464968	TTG	AAAAGGGGACA	T202464968A	BMPR2	NM_001204.7(BMPR2):c.236_238delinsAAAAGGGGACA:p.Leu79fs	coding	Pathogenic
2	202464972	A	AT	A202464973T	BMPR2	NM_001204.7(BMPR2):c.240_241insT:p.Lys81Ter	coding	Pathogenic
2	202464976	C	CA	G202464979A	BMPR2	NM_001204.7(BMPR2):c.246dup:p.Gly83fs	coding	Pathogenic
2	202464978	AGGCAAGT	A	G202464980A	BMPR2	NM_001204.7(BMPR2):c.247+1_247+7del	coding	Pathogenic
2	202464980	GC	G	C202464981A	BMPR2	NM_001204.7(BMPR2):c.247+2del	noncoding	Pathogenic
2	202467514	TATAGG	AC	T202467514A	BMPR2	NM_001204.7(BMPR2):c.248-5_248delinsAC	noncoding	Pathogenic
2	202467530	C	CA	C202467532A	BMPR2	NM_001204.7(BMPR2):c.260dup:p.His87fs	coding	Pathogenic
2	202467541	TC	T	C202467545A	BMPR2	NM_001204.7(BMPR2):c.274del:p.Gln92fs	coding	Pathogenic
2	202467547	A	AG	A202467549G	BMPR2	NM_001204.7(BMPR2):c.277dup:p.Glu93fs	coding	Pathogenic
2	202467583	TC	T	C202467585T	BMPR2	NM_001204.7(BMPR2):c.314del:p.Pro105fs	coding	Pathogenic
2	202467608	T	TA	C202467610A	BMPR2	NM_001204.7(BMPR2):c.338dup:p.Tyr113Ter	coding	Pathogenic
2	202467610	C	CAA	C202467611A	BMPR2	NM_001204.7(BMPR2):c.339_340insAA:p.Arg114fs	coding	Pathogenic
2	202467612	G	GT	C202467616T	BMPR2	NM_001204.7(BMPR2):c.344dup:p.Cys116fs	coding	Pathogenic
2	202467614	TTC	T	C202467616G	BMPR2	NM_001204.7(BMPR2):c.345_346del:p.Phe115fs	coding	Pathogenic
2	202467623	TG	T	G202467624T	BMPR2	NM_001204.7(BMPR2):c.353del:p.Cys118fs	coding	Pathogenic
2	202467625	TA	AG	T202467625A	BMPR2	NM_001204.7(BMPR2):c.354_355delinsAG:p.Cys118_Ser119delinsTer	coding	Pathogenic
2	202467625	TA	T	A202467626G	BMPR2	NM_001204.7(BMPR2):c.355del:p.Ser119fs	coding	Pathogenic
2	202467627	GCA	G	C202467630G	BMPR2	NM_001204.7(BMPR2):c.357_358CA[1]:p.Thr120fs	coding	Pathogenic
2	202467640	T	TA	T202467643A	BMPR2	NM_001204.7(BMPR2):c.371dup:p.Asn124fs	coding	Pathogenic
2	202467669	CT	C	T202467670C	BMPR2	NM_001204.7(BMPR2):c.399del:p.Pro134fs	coding	Pathogenic
2	202467674	GACACA	G	A202467679C	BMPR2	NM_001204.7(BMPR2):c.408_412del:p.Pro138fs	coding	Pathogenic
2	202467674	GAC	G	C202467678A	BMPR2	NM_001204.7(BMPR2):c.405_406CA[1]:p.Thr136fs	coding	Pathogenic
2	202467688	CAGTA	C	G202467694A	BMPR2	NM_001204.7(BMPR2):c.418+5_418+8del	coding	Pathogenic
2	202467691	TAA	GAG	T202467691G	BMPR2	NM_001204.7(BMPR2):c.418+2_418+4delinsGAG	noncoding	Pathogenic
2	202513720	T	TG	C202513721G	BMPR2	NM_001204.7(BMPR2):c.420_421insG:p.Pro141fs	coding	Pathogenic
2	202513732	AT	A	T202513735A	BMPR2	NM_001204.7(BMPR2):c.435del:p.Phe145fs	coding	Pathogenic
2	202513742	GA	G	A202513743T	BMPR2	NM_001204.7(BMPR2):c.443del:p.Asp148fs	coding	Pathogenic
2	202513748	A	AC	A202513750C	BMPR2	NM_001204.7(BMPR2):c.449dup:p.Ile151fs	coding	Pathogenic
2	202513796	GT	G	T202513798G	BMPR2	NM_001204.7(BMPR2):c.498del:p.Ala167fs	coding	Pathogenic
2	202513801	C	CT	A202513804T	BMPR2	NM_001204.7(BMPR2):c.503dup:p.Leu168fs	coding	Pathogenic
2	202513807	CTTT	AAA	C202513807A	BMPR2	NM_001204.7(BMPR2):c.507_510delinsAAA:p.Cys169_Phe170delinsTer	coding	Pathogenic
2	202513827	CA	C	A202513828G	BMPR2	NM_001204.7(BMPR2):c.528del:p.Gly177fs	coding	Pathogenic
2	202514889	A	AGACC	T202514895A	BMPR2	NM_001204.7(BMPR2):c.533_536dup:p.Lys180fs	coding	Pathogenic
2	202514908	CACAGTATGAACATGATGGAGGCA	C	A202514909G	BMPR2	NM_001204.7(BMPR2):c.551_573del:p.His184fs	coding	Pathogenic
2	202514965	CTG	C	T202514966A	BMPR2	NM_001204.7(BMPR2):c.608_609del:p.Leu203fs	coding	Pathogenic
2	202514967	GA	G	A202514970C	BMPR2	NM_001204.7(BMPR2):c.612del:p.Lys204fs	coding	Pathogenic
2	202514975	T	TG	A202514978G	BMPR2	NM_001204.7(BMPR2):c.619dup:p.Glu207fs	coding	Pathogenic
2	202518854	TA	T	A202518857G	BMPR2	NM_001204.7(BMPR2):c.657del:p.Gly220fs	coding	Pathogenic
2	202518857	A	AG	C202518860G	BMPR2	NM_001204.7(BMPR2):c.659dup:p.Ser221fs	coding	Pathogenic
2	202518864	TT	AAGG	T202518864A	BMPR2	NM_001204.7(BMPR2):c.664_665delinsAAGG:p.Leu222fs	coding	Pathogenic
2	202518870	GAGCGTCC	G	C202518873T	BMPR2	NM_001204.7(BMPR2):c.673_679del:p.Arg225fs	coding	Pathogenic
2	202518882	GC	G	C202518883T	BMPR2	NM_001204.7(BMPR2):c.683del:p.Ala228fs	coding	Pathogenic
2	202518886	TAAAAGTG	T	A202518887T	BMPR2	NM_001204.7(BMPR2):c.687_693del:p.Lys230fs	coding	Pathogenic
2	202518886	TAA	T	A202518889G	BMPR2	NM_001204.7(BMPR2):c.689_690del:p.Lys230fs	coding	Pathogenic
2	202518890	AG	A	G202518891T	BMPR2	NM_001204.7(BMPR2):c.691del:p.Val231fs	coding	Pathogenic
2	202518890	AG	T	A202518890T	BMPR2	NM_001204.7(BMPR2):c.690_691delinsT:p.Lys230fs	coding	Pathogenic
2	202518960	CAT	C	A202518961G	BMPR2	NM_001204.7(BMPR2):c.761_762del:p.His254fs	coding	Pathogenic
2	202518972	GC	G	C202518975G	BMPR2	NM_001204.7(BMPR2):c.775del:p.Arg259fs	coding	Pathogenic
2	202518979	TTA	T	T202518982G	BMPR2	NM_001204.7(BMPR2):c.780_781TA[1]:p.Ile261fs	coding	Pathogenic
2	202518984	G	GT	G202518987T	BMPR2	NM_001204.7(BMPR2):c.786dup:p.Gly263fs	coding	Pathogenic
2	202518989	AG	A	G202518990A	BMPR2	NM_001204.7(BMPR2):c.790del:p.Asp264fs	coding	Pathogenic
2	202518992	TGAGA	T	A202518996T	BMPR2	NM_001204.7(BMPR2):c.794_795AG[1]:p.Arg266fs	coding	Pathogenic
2	202518995	GA	TT	G202518995T	BMPR2	NM_001204.7(BMPR2):c.795_796delinsTT:p.Glu265_Arg266delinsAspTer	coding	Pathogenic
2	202519001	C	CA	C202519003A	BMPR2	NM_001204.7(BMPR2):c.802dup:p.Thr268fs	coding	Pathogenic
2	202519003	CT	C	T202519004G	BMPR2	NM_001204.7(BMPR2):c.804del:p.Ala269fs	coding	Pathogenic
2	202519022	A	AT	A202519024T	BMPR2	NM_001204.7(BMPR2):c.823dup:p.Tyr275fs	coding	Pathogenic
2	202519052	T	TA	G202519053A	BMPR2	NM_001204.7(BMPR2):c.852_852+1insA	coding	Pathogenic
2	202520088	GA	G	A202520089T	BMPR2	NM_001204.7(BMPR2):c.855del:p.Ser286fs	coding	Pathogenic
2	202520103	AT	A	T202520106A	BMPR2	NM_001204.7(BMPR2):c.872del:p.Tyr290_Leu291insTer	coding	Pathogenic
2	202520126	T	TGG	T202520130G	BMPR2	NM_001204.7(BMPR2):c.894_895dup:p.Val299fs	coding	Pathogenic
2	202520194	AC	A	C202520195G	BMPR2	NM_001204.7(BMPR2):c.961del:p.Arg321fs	coding	Pathogenic
2	202520203	TA	T	A202520205G	BMPR2	NM_001204.7(BMPR2):c.967+4del	noncoding	Pathogenic
2	202530794	A	AT	C202530796T	BMPR2	NM_001204.7(BMPR2):c.969dup:p.His324fs	coding	Pathogenic
2	202530804	AC	A	C202530806T	BMPR2	NM_001204.7(BMPR2):c.980del:p.Pro327fs	coding	Pathogenic
2	202530835	AGAAAT	A	A202530837T	BMPR2	NM_001204.7(BMPR2):c.1011_1015del:p.Arg337fs	coding	Pathogenic
2	202530868	GT	G	T202530870A	BMPR2	NM_001204.7(BMPR2):c.1044del:p.Ile349fs	coding	Pathogenic
2	202530885	AC	A	C202530886T	BMPR2	NM_001204.7(BMPR2):c.1060del:p.Leu354fs	coding	Pathogenic
2	202530901	AC	A	C202530902T	BMPR2	NM_001204.7(BMPR2):c.1076del:p.Thr359fs	coding	Pathogenic
2	202530902	CTG	C	T202530903G	BMPR2	NM_001204.7(BMPR2):c.1077_1078del:p.Gly360fs	coding	Pathogenic
2	202530919	CGCCCA	G	C202530919G	BMPR2	NM_001204.7(BMPR2):c.1093_1098delinsG:p.Arg365fs	coding	Pathogenic
2	202530920	GC	G	C202530923A	BMPR2	NM_001204.7(BMPR2):c.1097del:p.Pro366fs	coding	Pathogenic
2	202530923	CAGGGG	C	G202530927A	BMPR2	NM_001204.7(BMPR2):c.1101_1105del:p.Glu368fs	coding	Pathogenic
2	202530938	A	AT	G202530940T	BMPR2	NM_001204.7(BMPR2):c.1113dup:p.Ala372fs	coding	Pathogenic
2	202530945	CA	C	A202530946T	BMPR2	NM_001204.7(BMPR2):c.1120del:p.Ala373_Ile374insTer	coding	Pathogenic
2	202530950	GCGAGGTGAGTGTATACAAAA	G	C202530951G	BMPR2	NM_001204.7(BMPR2):c.1125_1128+16del	coding	Pathogenic
2	202532583	A	AGG	T202532586G	BMPR2	NM_001204.7(BMPR2):c.1129-1_1129dup	noncoding	Pathogenic
2	202532596	C	CA	G202532598A	BMPR2	NM_001204.7(BMPR2):c.1141dup:p.Arg381fs	coding	Pathogenic
2	202532596	C	CAG	T202532600G	BMPR2	NM_001204.7(BMPR2):c.1142_1143dup:p.Tyr382fs	coding	Pathogenic
2	202532603	AT	A	T202532604G	BMPR2	NM_001204.7(BMPR2):c.1148del:p.Met383fs	coding	Pathogenic
2	202532644	CTG	C	T202532647A	BMPR2	NM_001204.7(BMPR2):c.1189_1190TG[1]:p.Cys397_Glu398delinsTer	coding	Pathogenic
2	202532669	GA	G	A202532670C	BMPR2	NM_001204.7(BMPR2):c.1214del:p.Asp405fs	coding	Pathogenic
2	202532688	T	TAATC	T202532693A	BMPR2	NM_001204.7(BMPR2):c.1233_1236dup:p.Tyr413fs	coding	Pathogenic
2	202532698	G	GGA	T202532703G	BMPR2	NM_001204.7(BMPR2):c.1243_1244GA[3]:p.Ile416fs	coding	Pathogenic
2	202532702	A	AG	T202532703G	BMPR2	NM_001204.7(BMPR2):c.1246_1247insG:p.Ile416fs	coding	Pathogenic
2	202532702	ATATT	A	T202532706G	BMPR2	NM_001204.7(BMPR2):c.1250_1253del:p.Ile416_Phe417insTer	coding	Pathogenic
2	202532703	TA	T	A202532704T	BMPR2	NM_001204.7(BMPR2):c.1248del:p.Phe417fs	coding	Pathogenic
2	202532703	TATT	GA	T202532703G	BMPR2	NM_001204.7(BMPR2):c.1247_1250delinsGA:p.Ile416fs	coding	Pathogenic
2	202532723	C	CT	C202532725T	BMPR2	NM_001204.7(BMPR2):c.1268dup:p.Phe424fs	coding	Pathogenic
2	202532727	TCCCAG	CGGAGA	T202532727C	BMPR2	NM_001204.7(BMPR2):c.1271_1276delinsCGGAGA:p.Phe424_Gly426delinsSerGluArg	coding	Pathogenic
2	202532727	T	TC	A202532731C	BMPR2	NM_001204.7(BMPR2):c.1274dup:p.Gly426fs	coding	Pathogenic
2	202542301	A	AGGG	A202542302G	BMPR2	NM_001204.7(BMPR2):c.1277-10_1277-9insGGG	noncoding	Pathogenic
2	202542309	AG	A	G202542313A	BMPR2	NM_001204.6(BMPR2):c.1279delG:p.E427Nfs*47	noncoding	Pathogenic
2	202542318	CGTACCAGA	C	G202542327T	BMPR2	NM_001204.7(BMPR2):c.1285_1292GTACCAGA[1]:p.Glu431fs	coding	Pathogenic
2	202542319	G	GGGATT	T202542320G	BMPR2	NM_001204.7(BMPR2):c.1285_1286insGGATT:p.Val429fs	coding	Pathogenic
2	202542342	TCAGA	T	C202542347G	BMPR2	NM_001204.7(BMPR2):c.1309_1312CAGA[1]:p.Thr438fs	coding	Pathogenic
2	202542374	AG	A	G202542376A	BMPR2	NM_001204.7(BMPR2):c.1342del:p.Asp448fs	coding	Pathogenic
2	202542386	T	TTC	G202542391T	BMPR2	NM_001204.7(BMPR2):c.1353_1354TC[3]:p.Val453fs	coding	Pathogenic
2	202542400	GA	G	A202542405C	BMPR2	NM_001204.7(BMPR2):c.1371del:p.Lys457fs	coding	Pathogenic
2	202542400	G	CA	G202542400C	BMPR2	NM_001204.7(BMPR2):c.1366delinsCA:p.Glu456fs	coding	Pathogenic
2	202542400	G	GA	C202542406A	BMPR2	NM_001204.7(BMPR2):c.1371dup:p.Gln458fs	coding	Pathogenic
2	202542404	AAC	A	C202542406G	BMPR2	NM_001204.7(BMPR2):c.1372_1373del:p.Gln458fs	coding	Pathogenic
2	202542406	CAG	C	G202542410C	BMPR2	NM_001204.7(BMPR2):c.1374_1375GA[1]:p.Arg459fs	coding	Pathogenic
2	202542421	C	CA	C202542422A	BMPR2	NM_001204.7(BMPR2):c.1387_1388insA:p.Pro463fs	coding	Pathogenic
2	202542422	C	CA	G202542424A	BMPR2	NM_001204.7(BMPR2):c.1389dup:p.Glu464fs	coding	Pathogenic
2	202542424	GA	G	A202542426G	BMPR2	NM_001204.7(BMPR2):c.1392del:p.Ala465fs	coding	Pathogenic
2	202542432	GA	G	A202542435G	BMPR2	NM_001204.7(BMPR2):c.1401del:p.Glu468fs	coding	Pathogenic
2	202552727	ACTCAAGGAGACAATCGAAGACTGTT	A	C202552728G	BMPR2	NM_001204.7(BMPR2):c.1426_1450del:p.Leu476fs	coding	Pathogenic
2	202552728	CT	C	T202552729C	BMPR2	NM_001204.7(BMPR2):c.1427del:p.Leu476fs	coding	Pathogenic
2	202552742	CGAA	C	A202552745C	BMPR2	NM_001204.7(BMPR2):c.1443_1445del:p.Glu481del	coding	Pathogenic
2	202552778	T	TA	C202552780A	BMPR2	NM_001204.7(BMPR2):c.1477dup:p.Thr493fs	coding	Pathogenic
2	202552807	CT	C	T202552808G	BMPR2	NM_001204.7(BMPR2):c.1506del:p.Glu503fs	coding	Pathogenic
2	202552814	T	TA	T202552816A	BMPR2	NM_001204.7(BMPR2):c.1513dup:p.Met505fs	coding	Pathogenic
2	202552835	CA	C	A202552838T	BMPR2	NM_001204.7(BMPR2):c.1536del:p.Lys512fs	coding	Pathogenic
2	202552886	AC	A	C202552887G	BMPR2	NM_001204.7(BMPR2):c.1585del:p.Arg529fs	coding	Pathogenic
2	202555237	TTTTC	T	C202555245A	BMPR2	NM_001204.7(BMPR2):c.1587-7_1587-4del	noncoding	Pathogenic
2	202555326	ACT	A	C202555329A	BMPR2	NM_001204.7(BMPR2):c.1662_1663CT[1]:p.Ser555fs	coding	Pathogenic
2	202555618	A	AAC	C202555621A	BMPR2	NM_001204.7(BMPR2):c.1954_1955dup:p.Val654fs	coding	Pathogenic
2	202555622	CCT	C	C202555623G	BMPR2	NM_001204.7(BMPR2):c.1958_1959del:p.Pro653fs	coding	Pathogenic
2	202555627	C	CGA	T202555628G	BMPR2	NM_001204.7(BMPR2):c.1962_1963insGA:p.Cys655fs	coding	Pathogenic
2	202555632	T	TA	C202555634A	BMPR2	NM_001204.7(BMPR2):c.1968dup:p.Gln657fs	coding	Pathogenic
2	202555671	AC	A	C202555674A	BMPR2	NM_001204.7(BMPR2):c.2009del:p.Pro670fs	coding	Pathogenic
2	202555691	A	AACCT	C202555696A	BMPR2	NM_001204.7(BMPR2):c.2027_2030dup:p.Lys678fs	coding	Pathogenic
2	202555792	AC	A	C202555793T	BMPR2	NM_001204.7(BMPR2):c.2128del:p.Leu710fs	coding	Pathogenic
2	202555865	AT	A	T202555867C	BMPR2	NM_001204.7(BMPR2):c.2202del:p.Pro735fs	coding	Pathogenic
2	202555879	GC	G	C202555881T	BMPR2	NM_001204.7(BMPR2):c.2216del:p.Pro739fs	coding	Pathogenic
2	202555909	G	GC	A202555911C	BMPR2	NM_001204.7(BMPR2):c.2245dup:p.Gln749fs	coding	Pathogenic
2	202555949	AC	A	C202555951A	BMPR2	NM_001204.7(BMPR2):c.2286del:p.Asn764fs	coding	Pathogenic
2	202555951	C	CA	T202555957A	BMPR2	NM_001204.7(BMPR2):c.2291dup:p.Asn764fs	coding	Pathogenic
2	202555961	AC	A	C202555962A	BMPR2	NM_001204.7(BMPR2):c.2297del:p.Thr766fs	coding	Pathogenic
2	202555966	AGAGCCCC	A	A202555968G	BMPR2	NM_001204.7(BMPR2):c.2303_2309del:p.Glu768fs	coding	Pathogenic
2	202555969	GC	G	C202555973G	BMPR2	NM_001204.7(BMPR2):c.2308del:p.Arg770fs	coding	Pathogenic
2	202556036	ATG	A	T202556037A	BMPR2	NM_001204.7(BMPR2):c.2372_2373del:p.Met791fs	coding	Pathogenic
2	202556050	TG	T	G202556051C	BMPR2	NM_001204.7(BMPR2):c.2386del:p.Ala796fs	coding	Pathogenic
2	202556072	A	ATG	C202556073T	BMPR2	NM_001204.7(BMPR2):c.2407_2408insTG:p.Thr803fs	coding	Pathogenic
2	202556072	ACAGT	A	G202556075C	BMPR2	NM_001204.7(BMPR2):c.2410_2413del:p.Val804fs	coding	Pathogenic
2	202556077	C	CA	C202556079A	BMPR2	NM_001204.7(BMPR2):c.2413dup:p.Thr805fs	coding	Pathogenic
2	202556090	G	GT	G202556092T	BMPR2	NM_001204.7(BMPR2):c.2426dup:p.Ala810fs	coding	Pathogenic
2	202556104	CCA	C	C202556107G	BMPR2	NM_001204.7(BMPR2):c.2440_2441CA[1]:p.His814fs	coding	Pathogenic
2	202556108	A	AGT	T202556113G	BMPR2	NM_001204.7(BMPR2):c.2444_2445GT[3]:p.Asn817fs	coding	Pathogenic
2	202556146	TG	T	G202556149A	BMPR2	NM_001204.7(BMPR2):c.2484del:p.Thr829fs	coding	Pathogenic
2	202556164	CCAAA	C	A202556168C	BMPR2	NM_001204.7(BMPR2):c.2503_2506del:p.Thr835fs	coding	Pathogenic
2	202556165	C	CA	C202556169A	BMPR2	NM_001204.7(BMPR2):c.2503dup:p.Thr835fs	coding	Pathogenic
2	202556167	AACAACCAACATAGTGAC	A	A202556171T	BMPR2	NM_001204.7(BMPR2):c.2506_2522del:p.Thr835_Thr836insTer	coding	Pathogenic
2	202556168	AC	A	C202556169A	BMPR2	NM_001204.7(BMPR2):c.2504del:p.Thr835fs	coding	Pathogenic
2	202556182	G	GAC	T202556188C	BMPR2	NM_001204.7(BMPR2):c.2519_2520CA[3]:p.Arg842fs	coding	Pathogenic
2	202556189	AG	A	G202556192C	BMPR2	NM_001204.7(BMPR2):c.2527del:p.Ala843fs	coding	Pathogenic
2	202556197	AG	A	G202556198A	BMPR2	NM_001204.7(BMPR2):c.2533del:p.Glu845fs	coding	Pathogenic
2	202556223	G	GA	T202556224A	BMPR2	NM_001204.7(BMPR2):c.2558_2559insA:p.Gly853_Glu854insTer	coding	Pathogenic
2	202556243	AT	A	T202556245A	BMPR2	NM_001204.7(BMPR2):c.2580del:p.Asn861fs	coding	Pathogenic
2	202556270	CCTTTA	C	T202556273G	BMPR2	NM_001204.7(BMPR2):c.2608_2612del:p.Leu870fs	coding	Pathogenic
2	202556271	CT	C	T202556274A	BMPR2	NM_001204.7(BMPR2):c.2609del:p.Leu870fs	coding	Pathogenic
2	202556332	CA	C	A202556333G	BMPR2	NM_001204.7(BMPR2):c.2668del:p.Arg890fs	coding	Pathogenic
2	202562836	C	CA	C202562848A	BMPR2	NM_001204.7(BMPR2):c.*2901dup	noncoding	Benign
2	202563766	TAAC	T	C202563769A	BMPR2	NM_001204.7(BMPR2):c.*3823_*3825del	noncoding	Benign
2	203867943	A	ATGGGT	C203867947G	CTLA4	NM_005214.5(CTLA4):c.4_5insGTTGG:p.Ala2fs	coding	Pathogenic
2	203867975	TCAGCTGAACCTGGCTAC	T	C203867979G	CTLA4	NM_005214.5(CTLA4):c.37_53del:p.Leu13fs	coding	Pathogenic
2	203868016	TG	T	G203868017T	CTLA4	NM_005214.5(CTLA4):c.75del:p.Leu28fs	coding	Pathogenic
2	203868017	G	GT	C203868024T	CTLA4	NM_005214.5(CTLA4):c.81dup:p.Leu28fs	coding	Pathogenic
2	203870591	CACGTGGCCCAGCCTGCTGTGGTAC	GAAAA	C203870591G	CTLA4	NM_005214.5(CTLA4):c.115_139delinsGAAAA:p.His39fs	coding	Pathogenic
2	203870643	TTGTG	T	T203870648A	CTLA4	NM_005214.5(CTLA4):c.172_175del:p.Cys58fs	coding	Pathogenic
2	203870684	CG	C	G203870687T	CTLA4	NM_005214.5(CTLA4):c.211del:p.Arg70_Val71insTer	coding	Pathogenic
2	203870735	GC	G	C203870736A	CTLA4	NM_005214.5(CTLA4):c.260del:p.Ala87fs	coding	Pathogenic
2	203870847	C	CG	A203870851G	CTLA4	NM_005214.5(CTLA4):c.374dup:p.Leu126fs	coding	Pathogenic
2	203955755	CA	C	A203955758T	ICOS	NM_012092.4(ICOS):c.181del:p.Ile61fs	coding	Pathogenic
2	205776521	T	TA	G205776522A	NRP2	NM_003872.3(NRP2):c.2425+9718_2425+9719insA	coding	Benign
2	206146939	TTA	T	T206146940G	NDUFS1	NM_005006.7(NDUFS1):c.699_700del:p.Lys234fs	coding	Pathogenic
2	206146971	AATG	A	G206146974A	NDUFS1	NM_005006.7(NDUFS1):c.666_668del:p.Ile223del	coding	Pathogenic
2	206147852	CAT	C	T206147856A	NDUFS1	NM_005006.7(NDUFS1):c.339-20_339-19del	noncoding	Benign
2	206149933	TAAAAAAA	T	A206149952G	NDUFS1	NM_005006.7(NDUFS1):c.154-15_154-9del	noncoding	Benign
2	206149933	TAAAAAA	T	A206149953G	NDUFS1	NM_005006.7(NDUFS1):c.154-14_154-9del	noncoding	Benign
2	206149933	TAAAA	T	A206149955G	NDUFS1	NM_005006.7(NDUFS1):c.154-12_154-9del	noncoding	Benign
2	206149933	TAAA	T	A206149956G	NDUFS1	NM_005006.7(NDUFS1):c.154-11_154-9del	noncoding	Benign
2	206149933	TA	T	A206149958G	NDUFS1	NM_005006.7(NDUFS1):c.154-9del	noncoding	Benign
2	206149933	T	TAAAAAAAAAAAAAAAAAAA	G206149959A	NDUFS1	NM_005006.7(NDUFS1):c.154-33_154-15dup	noncoding	Benign
2	206149933	T	TAAAAAAAAAAAAAAAAAA	G206149959A	NDUFS1	NM_005006.7(NDUFS1):c.154-33_154-16dup	noncoding	Benign
2	206149933	T	TAAAAAAAAAAAAAAAAA	G206149959A	NDUFS1	NM_005006.7(NDUFS1):c.154-33_154-17dup	noncoding	Benign
2	206149933	T	TAAAAAA	G206149959A	NDUFS1	NM_005006.7(NDUFS1):c.154-33_154-28dup	noncoding	Benign
2	206150023	T	TTCTA	T206150055A	NDUFS1	NM_005006.7(NDUFS1):c.154-126TAGA[8]	noncoding	Benign
2	206150023	T	TTCTATCTA	T206150055A	NDUFS1	NM_005006.7(NDUFS1):c.154-126TAGA[9]	noncoding	Benign
2	206150101	C	CCT	G206150102C	NDUFS1	NM_005006.7(NDUFS1):c.154-177_154-176insAG	noncoding	Benign
2	206767167	ACTGT	A	T206767171A	FASTKD2	NM_001136193.2(FASTKD2):c.478_481del:p.Ser160fs	coding	Pathogenic
2	206770121	C	CTTTCAGTTTTG	C206770134T	FASTKD2	NM_001136193.2(FASTKD2):c.810_820dup:p.Ser274fs	coding	Pathogenic
2	206788863	CT	C	T206788866C	FASTKD2	NM_001136193.2(FASTKD2):c.1861del:p.Ser621fs	coding	Pathogenic
2	207767919	AG	A	G207767921A	FZD5	NM_003468.4(FZD5):c.820del:p.Leu274fs	coding	Pathogenic
2	208121749	T	TC	T208121754C	CRYGD	NM_006891.4(CRYGD):c.448dup:p.Asp150fs	coding	Pathogenic
2	208128304	G	GC	G208128310C	CRYGC	NM_020989.4(CRYGC):c.423dup:p.Arg142fs	coding	Pathogenic
2	208128399	GG	A	G208128399A	CRYGC	NM_020989.4(CRYGC):c.328_329delinsT:p.Pro110fs	coding	Pathogenic
2	208129569	A	AGCCGC	T208129575G	CRYGC	NM_020989.4(CRYGC):c.119_123dup:p.Cys42fs	coding	Pathogenic
2	208145953	TG	T	G208145957C	CRYGB	NM_005210.4(CRYGB):c.72del:p.Asn25fs	coding	Pathogenic
2	208146053	GC	G	C208146058A	CRYGB	NM_005210.4(CRYGB):c.10-38del	noncoding	Benign
2	208288757	CCT	C	C208288760T	PIKFYVE	NM_015040.4(PIKFYVE):c.853_854del:p.Leu285fs	coding	Pathogenic
2	208325957	T	TA	G208325962A	PIKFYVE	NM_015040.4(PIKFYVE):c.3150dup:p.Asp1051fs	coding	Pathogenic
2	208335328	GAAGT	G	A208335330T	PIKFYVE	NM_015040.4(PIKFYVE):c.4167_4170del:p.Glu1389fs	coding	Pathogenic
2	208357585	TG	T	G208357586C	PIKFYVE	NM_015040.4(PIKFYVE):c.*2281del	noncoding	Benign
2	208358399	G	GTTT	G208358410T	PIKFYVE	NM_015040.4(PIKFYVE):c.*3102_*3104dup	noncoding	Benign
2	208358608	ATGTAT	A	T208358614A	PIKFYVE	NM_015040.4(PIKFYVE):c.*3304_*3308TGTAT[1]	noncoding	Benign
2	209817937	AAC	A	A209817940C	UNC80	NM_182587.4(UNC80):c.1679_1680AC[1]:p.Thr561fs	coding	Pathogenic
2	209825971	CT	C	T209825974G	UNC80	NM_032504.1(UNC80):c.2399del:p.Leu800fs	coding	Pathogenic
2	209917771	CT	C	T209917772C	UNC80	NM_001371986.1(UNC80):c.5030-5del	noncoding	Benign
2	209939651	AG	A	G209939653T	UNC80	NM_001371986.1(UNC80):c.6646+1del	coding	Pathogenic
2	209976301	AAG	A	A209976302G	UNC80	NM_032504.1(UNC80):c.8573_8574del:p.Lys2858fs	coding	Pathogenic
2	210556728	A	ATCT	A210556731T	CPS1	NM_001875.5(CPS1):c.-4_-3insTTC	coding	Benign
2	210591913	ACC	GCT	A210591913G	CPS1	NM_001875.4(CPS1):c.1030_1032delinsGCT:p.Thr344Ala	coding	Benign
2	210591913	ACC	TCT	A210591913T	CPS1	NM_001875.5(CPS1):c.1030_1032delinsTCT:p.Thr344Ser	coding	Benign
2	210592899	AC	A	C210592902T	CPS1	NM_001875.5(CPS1):c.1110del:p.Phe371fs	coding	Pathogenic
2	210594549	AG	A	G210594550C	CPS1	NM_001875.5(CPS1):c.1207del:p.Ala403fs	coding	Pathogenic
2	210599539	TG	T	G210599541C	CPS1	NM_001875.5(CPS1):c.1529del:p.Gly510fs	coding	Pathogenic
2	210605190	AC	A	C210605191A	CPS1	NM_001875.5(CPS1):c.1926del:p.Asp642fs	coding	Pathogenic/Likely_pathogenic
2	210608542	AT	A	T210608543G	CPS1	NM_001875.5(CPS1):c.2375del:p.Met792fs	coding	Pathogenic
2	210616487	TG	T	G210616488T	CPS1	NM_001875.5(CPS1):c.2634del:p.Leu878fs	coding	Pathogenic
2	210642553	CGGT	C	G210642561A	CPS1	NM_001875.5(CPS1):c.3031_3033GTG[2]:p.Val1013del	coding	Pathogenic
2	210648547	CTG	C	G210648549A	CPS1	NM_001875.5(CPS1):c.3404+9_3404+10del	noncoding	Benign/Likely_benign
2	210654029	ACCCAGTGGTGC	A	C210654030T	CPS1	NM_001875.5(CPS1):c.3486_3496del:p.Pro1163fs	coding	Pathogenic
2	210656693	G	GT	A210656710T	CPS1	NM_001875.5(CPS1):c.3666+77dup	noncoding	Benign
2	210660629	AT	A	T210660631C	CPS1	NM_001875.5(CPS1):c.3903del:p.Pro1302fs	coding	Pathogenic
2	210663103	GT	G	T210663115C	CPS1	NM_001875.5(CPS1):c.3928-8del	noncoding	Benign/Likely_benign
2	210663103	GTT	G	T210663114C	CPS1	NM_001875.5(CPS1):c.3928-9_3928-8del	noncoding	Benign/Likely_benign
2	211713654	TAA	T	A211713667G	ERBB4	NM_005235.3(ERBB4):c.884-8_884-7del	noncoding	Benign
2	211713654	TA	T	A211713668G	ERBB4	NM_005235.3(ERBB4):c.884-7del	noncoding	Benign
2	211713654	T	TA	G211713669A	ERBB4	NM_005235.3(ERBB4):c.884-20dup	noncoding	Benign
2	214728537	C	CTT	G214728553T	BARD1	NM_000465.4(BARD1):c.*137_*138dup	noncoding	Benign
2	214728537	C	CTTT	G214728553T	BARD1	NM_000465.4(BARD1):c.*136_*138dup	noncoding	Benign
2	214728537	CT	C	T214728552G	BARD1	NM_000465.4(BARD1):c.*138del	noncoding	Benign
2	214728552	TGA	T	G214728553T	BARD1	NM_000465.4(BARD1):c.*122_*123del	noncoding	Benign
2	214728860	ATG	A	T214728861G	BARD1	NM_000465.4(BARD1):c.2148_2149del:p.Ile717fs	coding	Pathogenic/Likely_pathogenic
2	214728946	C	CT	G214728950T	BARD1	NM_000465.4(BARD1):c.2063dup:p.Asp689fs	coding	Pathogenic/Likely_pathogenic
2	214730441	TG	T	G214730443A	BARD1	NM_000465.4(BARD1):c.1970del:p.Pro657fs	coding	Pathogenic
2	214730453	AATTTCAT	A	T214730455C	BARD1	NM_000465.4(BARD1):c.1952_1958del:p.Tyr651fs	coding	Pathogenic
2	214730457	T	TCATACTTTTCTTCCTGTTCA	G214730491C	BARD1	NM_000465.4(BARD1):c.1935_1954dup:p.Glu652fs	coding	Pathogenic/Likely_pathogenic
2	214730462	CT	C	T214730466C	BARD1	NM_000465.4(BARD1):c.1949del:p.Lys650fs	coding	Pathogenic
2	214730478	CAT	C	T214730480C	BARD1	NM_000465.4(BARD1):c.1932_1933del:p.Val644_Cys645insTer	coding	Pathogenic/Likely_pathogenic
2	214744326	CCTAAAAATACTGGATTAAATTAACTAAGACCAAAAGGGTGTTATGCAGGTAATCATAAAGGAAAAGCAATAAATTGCTTTCATTTCACAGACATGTCATGCAGTATATTTAAAACATGTGTTATTAAATTCAATATATCATTTAACAGTAACATGAATCGCTTAGGCTTAAAAGTATACTATGTACTCCATTTACTTTTCATTGAAATAGTTGGTATTGTAGGAAAAAAGACTTTAAAACCAGAACATATGTATATACATTTACTAAGGACATCTAAATGACACCATAAATATGAGAAGCTTTTTCTTTTTTTCTTTTTTTTGAGACAGAGTCTCATTCTGTTGCCCAGGCTGGAGTGCAGTGGCACCATCTTGGCTCACTGCAAGCTCCACCTCCCAGGTTCACGCCATTCTCCTGCCTTAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACCACGCCCGGCTAATTTTTTTGTATTTTTAGTAGAGACAGGGCTTCACCGTGTTAGCCAGGATGATCTCGATCTCCTGGCCTTGTGATCCGCCCACCTGGGCCTCCCAAAGTGCTGGGATTACAGGCTTGAGCCACCACGCCCAGCCAGAAGCTTTTCCAAAATGCAGTGACTAACCAGAGGTAAGAAAATTAACATCAAGTTCCTTAATCACAGGCATTAATAACCATGAAAAACAAAACTAGTCTAATTCATTTCTTAATTCTCTCAAATCCAACACTTACATTCAAATTTTAGAATCCAGCATCCATTGAGAATCCCAAGCATACACTTCAAGGTACTTTGAACTGCATCACCAGGAACAACAACATGAGTTACTAAAATACAAAAAAAGCAGTAAGAGAAAGAAAGATACAAGCCAAAGTATTTCTTTGGCCTGCTTCTTATAACTCATCTATATTTTGTAAGCTTATATCTGAATCTTCAAAGGCAACAATTTTTACACTTAAGTGTAAGACTACTTCTATTTAGTATCTAGTTCTCTAACCTGGCCATCAATATGAAAAATCAGATCATAAACCATATATCTTAAAGCCATATTGGCAAACACAAATTTTTATTTTCAAATTACAGCTAAGGGATTATGACATTACACTGCACAACAATTTATTTGTCACTAGCAAAAGTCACAAATTTGCTCTTCTGAAATACTGTCTTGTCCTAAAATATATGCAAACCTTTAAACTTTACATTTCCTAACTACGTTGTTGTCTATAAGTAGTTTATTACTGAAAAAAAATTTAGATGTATTACAAGATGCAAAGTATACAGCCATCTCCCAATGGTTAAAACATATGTAAATTATCAAAGGTAGTTCTCCAAAAGGATCATCTATTTAACATTTTTTCTACCCCACCTCCCAAAATTCAAAATCCTCACCTGTACTGTCAAACTCAGTATATTTTTTAGCCTTAAGAATTACTGCAAGCTCACTGAGCATTTTCTGTTGTTCTGAAGACAGCCCA	C	A214744329G	BARD1	NM_000465.4(BARD1):c.1725_1903+740del	noncoding	Pathogenic
2	214745097	GA	G	A214745099T	BARD1	NM_000465.4(BARD1):c.1872del:p.Leu625fs	coding	Pathogenic
2	214745136	C	CA	C214745138A	BARD1	NM_000465.4(BARD1):c.1833dup:p.Asp612Ter	coding	Pathogenic
2	214745140	AG	A	G214745142A	BARD1	NM_000465.4(BARD1):c.1829del:p.Pro610fs	coding	Pathogenic
2	214745151	CAT	C	A214745152G	BARD1	NM_000465.4(BARD1):c.1817_1818del:p.His606fs	coding	Pathogenic
2	214745722	CT	C	T214745723G	BARD1	NM_000465.4(BARD1):c.1809del:p.Thr603_Val604insTer	coding	Pathogenic
2	214745727	CTGTCAAACTCAGTATATTT	C	G214745729T	BARD1	NM_000465.4(BARD1):c.1786_1804del:p.Lys596fs	coding	Pathogenic
2	214745738	AGTATATTT	A	G214745739T	BARD1	NM_000465.4(BARD1):c.1786_1793del:p.Lys595_Lys596insTer	coding	Pathogenic
2	214745760	AT	A	T214745762A	BARD1	NM_000465.4(BARD1):c.1771del:p.Ile591fs	coding	Pathogenic
2	214745770	GCTCA	G	C214745773G	BARD1	NM_000465.4(BARD1):c.1758_1761del:p.Glu587fs	coding	Pathogenic
2	214745815	T	TA	G214745818A	BARD1	NM_000465.4(BARD1):c.1716dup:p.Ile573fs	coding	Pathogenic
2	214752458	GGCTA	G	A214752462G	BARD1	NM_000465.4(BARD1):c.1662_1665del:p.Ser555fs	coding	Pathogenic
2	214752460	C	CTAGCTGAGGATGATTCATTCTTCTCTGGT	A214752490T	BARD1	NM_000465.4(BARD1):c.1635_1663dup:p.Ser555fs	coding	Pathogenic
2	214752467	AG	A	G214752469A	BARD1	NM_000465.4(BARD1):c.1656del:p.Ser553fs	coding	Pathogenic
2	214752476	C	CAT	T214752479A	BARD1	NM_000465.4(BARD1):c.1646_1647dup:p.Glu550fs	coding	Pathogenic
2	214752478	T	TTCTTC	G214752487T	BARD1	NM_000465.4(BARD1):c.1641_1645dup:p.Asn549fs	coding	Pathogenic
2	214752490	AGCAGCAATAGCGATTTCATACTTTCATCATCTGT	CGC	A214752490C	BARD1	NM_000465.4(BARD1):c.1600_1634delinsGCG:p.Thr534fs	coding	Pathogenic
2	214752503	AT	A	T214752506C	BARD1	NM_000465.4(BARD1):c.1620del:p.Lys540fs	coding	Pathogenic
2	214767531	CA	TG	C214767531T	BARD1	NM_000465.3(BARD1):c.1518_1519invTG:p.Val507Met	coding	Benign/Likely_benign
2	214767537	C	CA	T214767539A	BARD1	NM_000465.4(BARD1):c.1512dup:p.Gly505fs	coding	Pathogenic
2	214767550	A	AT	C214767552T	BARD1	NM_000465.4(BARD1):c.1499dup:p.Asp500fs	coding	Pathogenic
2	214767623	AC	A	C214767625T	BARD1	NM_000465.4(BARD1):c.1426del:p.Lys475_Val476insTer	coding	Pathogenic
2	214769255	CT	C	T214769258A	BARD1	NM_000465.4(BARD1):c.1371del:p.Asp458fs	coding	Pathogenic
2	214769258	TAAC	AAG	T214769258A	BARD1	NM_000465.4(BARD1):c.1366_1369delinsCTT:p.Val456fs	coding	Pathogenic
2	214769277	A	AT	G214769282T	BARD1	NM_000465.4(BARD1):c.1349dup:p.Asn450fs	coding	Pathogenic
2	214769278	TT	ATG	T214769278A	BARD1	NM_000465.4(BARD1):c.1348_1349delinsCAT:p.Asn450fs	coding	Pathogenic
2	214769289	GTA	G	A214769291T	BARD1	NM_000465.4(BARD1):c.1336_1337del:p.Tyr446fs	coding	Pathogenic
2	214769297	CA	C	A214769298G	BARD1	NM_000465.4(BARD1):c.1329del:p.Val444fs	coding	Pathogenic
2	214769297	CAG	C	G214769299A	BARD1	NM_000465.4(BARD1):c.1328_1329del:p.Ser443fs	coding	Pathogenic
2	214769301	AG	A	G214769303T	BARD1	NM_000465.4(BARD1):c.1325del:p.Pro442fs	coding	Pathogenic/Likely_pathogenic
2	214769303	G	GT	A214769305T	BARD1	NM_000465.4(BARD1):c.1323dup:p.Pro442fs	coding	Pathogenic
2	214780563	AATAG	A	T214780565A	BARD1	NM_000465.4(BARD1):c.1307_1310del:p.Ser436fs	coding	Pathogenic
2	214780589	CTCCT	C	T214780590C	BARD1	NM_000465.4(BARD1):c.1281_1284del:p.Gly428fs	coding	Pathogenic
2	214780594	CTA	C	A214780596G	BARD1	NM_000465.4(BARD1):c.1278_1279del:p.His426fs	coding	Pathogenic
2	214780603	CT	C	T214780607C	BARD1	NM_000465.4(BARD1):c.1270del:p.Arg424fs	coding	Pathogenic
2	214780607	TCAC	CAT	T214780607C	BARD1	NM_000465.4(BARD1):c.1264_1267delinsATG:p.Val422fs	coding	Pathogenic
2	214780633	AT	A	T214780635G	BARD1	NM_000465.4(BARD1):c.1240del:p.Ala413_Met414insTer	coding	Pathogenic/Likely_pathogenic
2	214780642	GGACTA	G	T214780646A	BARD1	NM_000465.4(BARD1):c.1227_1231del:p.Ser410fs	coding	Pathogenic
2	214780646	TAGAC	T	G214780648T	BARD1	NM_000465.4(BARD1):c.1224_1227del:p.Met408fs	coding	Pathogenic/Likely_pathogenic
2	214780662	G	GT	A214780664T	BARD1	NM_000465.4(BARD1):c.1211dup:p.Tyr404Ter	coding	Pathogenic
2	214780663	TA	T	A214780665C	BARD1	NM_000465.4(BARD1):c.1210del:p.Tyr404fs	coding	Pathogenic
2	214780675	CT	C	T214780677A	BARD1	NM_000465.4(BARD1):c.1198del:p.Ser400fs	coding	Pathogenic
2	214780677	TAATGTAGAAG	CAA	T214780677C	BARD1	NM_000465.4(BARD1):c.1187_1197delinsTTG:p.Pro396fs	coding	Pathogenic
2	214780678	AATGTAGAAG	CAA	A214780678C	BARD1	NM_000465.4(BARD1):c.1187_1196delinsTTG:p.Pro396fs	coding	Pathogenic
2	214780693	G	GTACC	G214780699A	BARD1	NM_000465.4(BARD1):c.1177_1180dup:p.Thr394fs	coding	Pathogenic
2	214780713	GA	G	A214780715T	BARD1	NM_000465.4(BARD1):c.1160del:p.Phe387fs	coding	Pathogenic
2	214780778	GTGGTGAAGAACATTCAGGCAA	G	G214780783A	BARD1	NM_000465.4(BARD1):c.1075_1095del:p.Leu359_Pro365del	coding	Benign/Likely_benign
2	214780850	TC	T	C214780851A	BARD1	NM_000465.4(BARD1):c.1023del:p.Ser342fs	coding	Pathogenic
2	214780852	A	AG	A214780854G	BARD1	NM_000465.4(BARD1):c.1021dup:p.Leu341fs	coding	Pathogenic
2	214780859	TG	T	G214780861T	BARD1	NM_000465.4(BARD1):c.1014del:p.Ser339fs	coding	Pathogenic
2	214780871	TC	T	C214780872T	BARD1	NM_000465.4(BARD1):c.1002del:p.Arg335fs	coding	Pathogenic
2	214780874	TAG	T	G214780876A	BARD1	NM_000465.4(BARD1):c.998_999del:p.Ile332_Ser333insTer	coding	Pathogenic
2	214780874	T	TA	G214780876A	BARD1	NM_000465.4(BARD1):c.999dup:p.Lys334Ter	coding	Pathogenic
2	214780952	GAT	G	T214780954A	BARD1	NM_000465.4(BARD1):c.920_921del:p.Tyr307fs	coding	Pathogenic
2	214780978	GTCACT	G	T214780979A	BARD1	NM_000465.4(BARD1):c.891_895del:p.Val298fs	coding	Pathogenic
2	214781000	T	TA	G214781002A	BARD1	NM_000465.4(BARD1):c.873dup:p.Lys292Ter	coding	Pathogenic
2	214781012	ACT	A	C214781015A	BARD1	NM_000465.4(BARD1):c.858_859AG[1]:p.Glu287fs	coding	Pathogenic
2	214781015	C	CT	A214781017T	BARD1	NM_000465.4(BARD1):c.858dup:p.Glu287fs	coding	Pathogenic
2	214781034	TAA	T	A214781036G	BARD1	NM_000465.4(BARD1):c.838_839del:p.Leu280fs	coding	Pathogenic
2	214781118	AG	A	G214781120A	BARD1	NM_000465.4(BARD1):c.755del:p.Pro252fs	coding	Pathogenic
2	214781123	TGGAGATAACA	T	G214781125A	BARD1	NM_000465.4(BARD1):c.741_750del:p.Ile249fs	coding	Pathogenic
2	214781127	GA	G	A214781128T	BARD1	NM_000465.4(BARD1):c.746del:p.Ile249fs	coding	Pathogenic
2	214781128	A	AT	A214781130T	BARD1	NM_000465.4(BARD1):c.745dup:p.Ile249fs	coding	Pathogenic
2	214781213	CTAAA	C	A214781215T	BARD1	NM_000465.4(BARD1):c.657_660del:p.Asn219fs	coding	Pathogenic
2	214781227	TG	T	G214781229T	BARD1	NM_000465.4(BARD1):c.646del:p.Gln216fs	coding	Pathogenic
2	214781241	T	TA	G214781245A	BARD1	NM_000465.4(BARD1):c.632dup:p.Leu211fs	coding	Pathogenic
2	214781245	GTT	G	T214781248C	BARD1	NM_000465.4(BARD1):c.627_628del:p.Lys209fs	coding	Pathogenic/Likely_pathogenic
2	214781249	T	TC	T214781251C	BARD1	NM_000465.4(BARD1):c.624dup:p.Lys209fs	coding	Pathogenic
2	214781250	C	CA	T214781251A	BARD1	NM_000465.4(BARD1):c.623_624insT:p.Lys208fs	coding	Pathogenic
2	214781250	C	CT	G214781258T	BARD1	NM_000465.4(BARD1):c.623dup:p.Lys209fs	coding	Pathogenic
2	214781259	C	CT	C214781266T	BARD1	NM_000465.4(BARD1):c.614dup:p.Gln206fs	coding	Pathogenic
2	214781259	CT	C	T214781265C	BARD1	NM_000465.4(BARD1):c.614del:p.Lys205fs	coding	Pathogenic
2	214781276	C	CAG	A214781280G	BARD1	NM_000465.4(BARD1):c.596_597dup:p.Ala200fs	coding	Pathogenic
2	214781281	GC	G	C214781283T	BARD1	NM_000465.4(BARD1):c.592del:p.Ala198fs	coding	Pathogenic
2	214781333	CAT	C	A214781336G	BARD1	NM_000465.4(BARD1):c.537_538AT[1]:p.Ser179_Tyr180insTer	coding	Pathogenic
2	214781337	TGA	T	A214781339T	BARD1	NM_000465.4(BARD1):c.535_536del:p.Ser179fs	coding	Pathogenic
2	214781355	T	TG	C214781357G	BARD1	NM_000465.4(BARD1):c.518dup:p.Ser174fs	coding	Pathogenic/Likely_pathogenic
2	214781356	G	GC	A214781358C	BARD1	NM_000465.4(BARD1):c.517dup:p.Ala173fs	coding	Pathogenic
2	214781360	C	CT	A214781368T	BARD1	NM_000465.4(BARD1):c.513dup:p.Asp172fs	coding	Pathogenic
2	214781413	A	ACTTT	A214781421T	BARD1	NM_000465.4(BARD1):c.457_460dup:p.Val154fs	coding	Pathogenic
2	214781432	T	TA	C214781436A	BARD1	NM_000465.4(BARD1):c.441dup:p.Ser148Ter	coding	Pathogenic
2	214781454	CTTCTTGT	C	T214781458C	BARD1	NM_000465.4(BARD1):c.413_419del:p.Asn138fs	coding	Pathogenic
2	214781457	CTT	C	T214781458G	BARD1	NM_000465.4(BARD1):c.415_416del:p.Lys139fs	coding	Pathogenic
2	214781516	GA	G	A214781523G	BARD1	NM_000465.4(BARD1):c.365-8del	noncoding	Benign/Likely_benign
2	214781516	G	GAA	G214781524A	BARD1	NM_000465.4(BARD1):c.365-14_365-13dup	noncoding	Benign/Likely_benign
2	214792365	CTATT	C	T214792369C	BARD1	NM_000465.4(BARD1):c.292_295del:p.Asn98fs	coding	Pathogenic
2	214792387	TC	T	C214792389A	BARD1	NM_000465.4(BARD1):c.273del:p.Ala90_Trp91insTer	coding	Pathogenic
2	214792394	CG	C	G214792398T	BARD1	NM_000465.4(BARD1):c.266del:p.Pro89fs	coding	Pathogenic
2	214792432	CACTT	C	T214792435A	BARD1	NM_000465.4(BARD1):c.225_228del:p.Ser76fs	coding	Pathogenic
2	214792434	CT	C	T214792436A	BARD1	NM_000465.4(BARD1):c.226del:p.Ser76fs	coding	Pathogenic
2	214792456	ATT	A	T214792457A	BARD1	NM_000465.4(BARD1):c.216-13_216-12del	noncoding	Benign
2	214792458	TA	T	A214792474G	BARD1	NM_000465.4(BARD1):c.216-14del	noncoding	Benign/Likely_benign
2	214797091	CA	C	A214797092C	BARD1	NM_000465.4(BARD1):c.184del:p.Cys62fs	coding	Pathogenic
2	214797098	GCT	G	T214797104A	BARD1	NM_000465.4(BARD1):c.172_173AG[2]:p.Glu59fs	coding	Pathogenic/Likely_pathogenic
2	214797107	GA	G	A214797109T	BARD1	NM_000465.4(BARD1):c.168del:p.Ile56_Leu57insTer	coding	Pathogenic
2	214809412	CA	C	A214809414C	BARD1	NM_000465.4(BARD1):c.157del:p.Cys53fs	coding	Pathogenic
2	214809468	CCAGGCACCGCGACCATCCGGTTCCATGGCGGGCGCGG	C	C214809469A	BARD1	NM_000465.4(BARD1):c.65_101del:p.Ser22fs	coding	Pathogenic
2	214809469	C	CA	G214809471A	BARD1	NM_000465.4(BARD1):c.100dup:p.Trp34fs	coding	Pathogenic
2	214809500	GC	ACGCGGAACGAGGCTCGTTCCCGGA	G214809500A	BARD1	NM_000465.4(BARD1):c.69_70delinsTCCGGGAACGAGCCTCGTTCCGCGT:p.Ala25fs	coding	Pathogenic
2	214809501	C	CGCGGAACGAGGCTCGTTCCCGGA	T214809530A	BARD1	NM_000465.4(BARD1):c.46_68dup:p.Ala25fs	coding	Pathogenic
2	214809539	G	GC	G214809542C	BARD1	NM_000465.4(BARD1):c.30dup:p.Gln11fs	coding	Pathogenic
2	214809546	CCTCGGCTGCCGATTATCCGG	C	T214809548A	BARD1	NM_000465.4(BARD1):c.4_23del:p.Pro2fs	coding	Pathogenic
2	214931578	G	GACAA	G214931586A	ABCA12	NM_173076.3(ABCA12):c.*1052_*1055dup	noncoding	Benign
2	214932639	ACT	A	T214932641C	ABCA12	NM_173076.3(ABCA12):c.7781_7782del:p.Glu2594fs	coding	Pathogenic
2	214945020	CG	C	G214945022A	ABCA12	NM_173076.3(ABCA12):c.7323del:p.Val2442fs	coding	Pathogenic
2	214968754	A	AT	A214968756T	ABCA12	NM_173076.3(ABCA12):c.5743dup:p.Ile1915fs	coding	Pathogenic
2	214978431	AT	A	T214978438G	ABCA12	NM_173076.3(ABCA12):c.5012del:p.Asn1671fs	coding	Pathogenic
2	215001587	C	CT	A215001592T	ABCA12	NM_173076.3(ABCA12):c.2833dup:p.Arg945fs	coding	Pathogenic
2	215001594	CCT	C	T215001602C	ABCA12	NM_173076.3(ABCA12):c.2825_2826del:p.Glu942fs	coding	Pathogenic
2	215064077	TA	T	A215064078G	ABCA12	NM_173076.3(ABCA12):c.305del:p.Leu102fs	coding	Pathogenic
2	215386883	CGAG	C	G215386887C	FN1	NM_002026.3(FN1):c.4139_4141CTC[1]:p.Pro1381del	coding	Pathogenic
2	216414971	CCA	C	C216414974G	SMARCAL1	NM_001127207.2(SMARCAL1):c.268_269CA[1]:p.His90fs	coding	Pathogenic
2	216415033	G	GCCACAGT	G216415045A	SMARCAL1	NM_014140.4(SMARCAL1):c.334_340dup:p.Arg114fs	coding	Pathogenic
2	216415118	CTT	C	T216415119G	SMARCAL1	NM_014140.3(SMARCAL1):c.415_416del:p.Leu139fs	coding	Pathogenic
2	216415487	G	GT	A216415491T	SMARCAL1	NM_014140.4(SMARCAL1):c.786dup:p.Lys263Ter	coding	Pathogenic
2	216428637	CT	C	T216428638G	SMARCAL1	NM_014140.3(SMARCAL1):c.1190del:p.Leu397fs	coding	Pathogenic
2	216428656	TG	T	G216428658C	SMARCAL1	NM_014140.4(SMARCAL1):c.1210del:p.Ala404fs	coding	Pathogenic
2	216428695	T	TC	A216428697C	SMARCAL1	NM_014140.4(SMARCAL1):c.1248dup:p.Thr417fs	coding	Pathogenic
2	216435354	TG	T	G216435355C	SMARCAL1	NM_014140.4(SMARCAL1):c.1503del:p.Pro502fs	coding	Pathogenic
2	216450925	GGC	G	G216450928C	SMARCAL1	NM_014140.4(SMARCAL1):c.1934_1935del:p.Arg645fs	coding	Pathogenic
2	218345659	C	CCT	C218345663T	PNKD	NM_015488.5(PNKD):c.*680_*681dup	noncoding	Benign
2	218642513	AC	A	C218642516A	ZNF142	NM_001105537.4(ZNF142):c.4002del:p.Leu1335fs	coding	Pathogenic
2	218646329	AC	A	C218646330A	ZNF142	NM_001105537.4(ZNF142):c.1292del:p.Cys431fs	coding	Pathogenic
2	218649089	CTT	C	T218649090G	ZNF142	NM_001105537.4(ZNF142):c.817_818del:p.Lys273fs	coding	Pathogenic
2	218661266	TAA	T	A218661267G	BCS1L	NM_001079866.2(BCS1L):c.280_281del:p.Lys94fs	coding	Pathogenic
2	218661500	GC	G	C218661503T	BCS1L	NM_001079866.2(BCS1L):c.418del:p.Leu140fs	coding	Pathogenic/Likely_pathogenic
2	218661904	C	CA	G218661906A	BCS1L	NM_001079866.2(BCS1L):c.607dup:p.Arg203fs	coding	Pathogenic/Likely_pathogenic
2	218661922	CAT	C	A218661923C	BCS1L	NM_001079866.2(BCS1L):c.625_626del:p.Ile209fs	coding	Pathogenic
2	218661949	CAG	C	A218661952G	BCS1L	NM_001079866.2(BCS1L):c.652_653AG[1]:p.Gly219fs	coding	Pathogenic
2	218662570	CCT	C	C218662575G	BCS1L	NM_001079866.2(BCS1L):c.781_782CT[2]:p.Leu261_Ser262insTer	coding	Pathogenic
2	218781824	A	AC	G218781827C	CYP27A1	NM_000784.3(CYP27A1):c.-357dupC	noncoding	Benign
2	218782184	T	TGGCTGCGCTG	G218782203T	CYP27A1	NM_000784.4(CYP27A1):c.11_20dup:p.Arg8fs	coding	Pathogenic/Likely_pathogenic
2	218782186	G	GC	T218782188C	CYP27A1	NM_000784.4(CYP27A1):c.5dup:p.Ala3fs	coding	Pathogenic
2	218782204	A	AG	C218782207G	CYP27A1	NM_000784.4(CYP27A1):c.24dup:p.Leu9fs	coding	Pathogenic
2	218782244	G	GC	A218782250C	CYP27A1	NM_000784.4(CYP27A1):c.67dup:p.His23fs	coding	Pathogenic/Likely_pathogenic
2	218782247	CCCACGGGGCCAGAG	C	C218782251A	CYP27A1	NM_000784.4(CYP27A1):c.69_82del:p.His23fs	coding	Pathogenic
2	218782251	CG	C	G218782255C	CYP27A1	NM_000784.4(CYP27A1):c.73del:p.Ala25fs	coding	Pathogenic
2	218809624	GC	G	C218809626T	CYP27A1	NM_000784.4(CYP27A1):c.305del:p.Pro102fs	coding	Pathogenic
2	218809675	GC	G	C218809676G	CYP27A1	NM_000784.4(CYP27A1):c.355del:p.Arg119fs	coding	Pathogenic
2	218809688	AAGTACCC	A	C218809694G	CYP27A1	NM_000784.4(CYP27A1):c.373_379del:p.Pro125fs	coding	Pathogenic
2	218812281	CG	A	C218812281A	CYP27A1	NM_000784.4(CYP27A1):c.506_507delinsA:p.Ala169fs	coding	Pathogenic
2	218812568	GTTCGAGAAACGCA	G	C218812571G	CYP27A1	NM_000784.4(CYP27A1):c.666_678del:p.Phe222fs	coding	Pathogenic/Likely_pathogenic
2	218812679	CA	C	A218812681G	CYP27A1	NM_000784.4(CYP27A1):c.776del:p.Lys259fs	coding	Pathogenic
2	218812723	AT	A	T218812724G	CYP27A1	NM_000784.4(CYP27A1):c.819del:p.Asp273fs	coding	Pathogenic
2	218812941	GA	G	A218812942G	CYP27A1	NM_000784.4(CYP27A1):c.863del:p.Glu288fs	coding	Pathogenic
2	218813021	ACTGGC	A	T218813023A	CYP27A1	NM_000784.4(CYP27A1):c.944_948del:p.Leu315fs	coding	Pathogenic/Likely_pathogenic
2	218814064	AC	A	C218814067T	CYP27A1	NM_000784.4(CYP27A1):c.1064del:p.Pro355fs	coding	Pathogenic
2	218814180	ACT	A	C218814183G	CYP27A1	NM_000784.4(CYP27A1):c.1178_1179CT[1]:p.Leu394fs	coding	Pathogenic/Likely_pathogenic
2	218890298	TC	T	C218890301G	WNT10A	NM_025216.3(WNT10A):c.694del:p.Arg232fs	coding	Pathogenic
2	218890323	AC	A	C218890324G	WNT10A	NM_025216.3(WNT10A):c.717del:p.His239fs	coding	Pathogenic
2	218892914	CAT	C	A218892915C	WNT10A	NM_025216.3(WNT10A):c.898_899del:p.Ile300fs	coding	Pathogenic
2	218892920	GCCGCACAA	G	C218892926A	WNT10A	NM_025216.3(WNT10A):c.909_916del:p.His303fs	coding	Pathogenic
2	218892961	C	CG	C218892967G	WNT10A	NM_025216.3(WNT10A):c.949dup:p.Ala317fs	coding	Pathogenic
2	218892961	CG	C	G218892966C	WNT10A	NM_025216.3(WNT10A):c.949del:p.Ala317fs	coding	Pathogenic
2	218893000	G	GC	G218893003C	WNT10A	NM_025216.3(WNT10A):c.985dup:p.Arg329fs	coding	Pathogenic
2	218893182	AGCGAGCGCTGCCA	TTCCAGCACAACATC	A218893182T	WNT10A	NM_025216.3(WNT10A):c.1165_1178delinsTTCCAGCACAACATC:p.Ser389fs	coding	Pathogenic
2	219029472	CA	C	A219029473G	CFAP65	NM_194302.4(CFAP65):c.1580del:p.Leu527fs	coding	Pathogenic
2	219146694	G	GTTCC	A219146699T	NHEJ1	NM_024782.2(NHEJ1):c.570_573dup:p.Gln192fs	coding	Pathogenic
2	219157511	GA	G	A219157513G	NHEJ1	NM_024782.2(NHEJ1):c.350del:p.Phe117fs	coding	Pathogenic
2	219157537	G	GC	A219157539C	NHEJ1	NM_024782.2(NHEJ1):c.324dup:p.Arg109fs	coding	Pathogenic
2	219158183	TAC	AA	T219158183A	NHEJ1	NM_024782.2(NHEJ1):c.177+1_177+3delinsTT	noncoding	Pathogenic
2	219158351	C	CA	G219158353A	NHEJ1	NM_024782.2(NHEJ1):c.11dup:p.Glu5fs	coding	Pathogenic
2	219277936	AGATTCAAAGTCCCAGTTGGAGCATCCGATTGGCGGAGCTCATGTCTTCTGCCTGCAACCCCAGAGCCGAGTCAGGGAGAGCAAGCATTGGGGCTTTGTGGCAAATGGTGGCCTGCTTTCCATTAGGGCCCTTGCGATGGGAATTCCCCAAATGTAGGCAGGAGGTTCTGATGGTGGGCAGCCAGGAAACCAGGACACTCACACCACCTTCTTCTCTCACGTCCGCCTCAAACCCTTCTCGTTGGCGAAGTATTCCTGGGTCCCCCAGCCTAAAGCACTTTTCTGGACTCACATAACCATTATTGCTTGAGCCAATCACGATGCCAGCAGGACCGCAGTAACACCTAATTCGTACCATGTCTCATTTGACTTTCAAACAACCCTAGGCACTACCTATATTTAGTGAGAAAAAAAGAGTGCTCAGAGATTTTCCCAAGTCTCACAGTAATGCCAGGTTGTACTCTGTTTCCAAAGCCTCGGGTTTCCCAGCGGGCTACACTGATGGGCTGGTATCTTATCAAGTTCAAGCTCTGCAAAGGCAGGGCTTGGGCCACATTCTTCTTTATACGGCCTGGCAGCATCTTGAATGCAGAAAAATGCTCAGCTAACGCCTTTGGATTGGCCTGGATGGGATCAAGCAGGAGCCAGTTCTGGAAGGTTTCCTAACTCTCCAATGAGGCCTGAACCCAGGGAGCATTTTGAAGTGGAATAGGCCTACTCAGGATCAGTTTGGGAAGACTTGAACCTGGGGAATTCCGTTGTACGGCCCCCTTTACCTCACCTCCCCCAAATGTGTCAAAACTGTCAACAAGAGGTTTGCAGGTGTTCATTATTTATTCATCCCACGGGTAGTTTTGAACCCCTACGACTGCTCTAATAGACCAGTGAGAAAAAACACACAATTCCTGTCCTGTGAAATCGACATTCTAGTGGGGGAGGTGAATGGTAATAAAAAATAATCAAACCAATAAATGCTAATTTGTGGCTCTAACAAGCCTGATGAAGGAAATGCCACGAGATGCTGTAAAAGGCAGTTCTGACCTACTCAGGAAAGCCAGGGCAGCCTGCTGGGGGACCTGGGGCTGGAGCTGGGAGCTGAAGAAGGGGGAGGAGTTAGAACCGTGGTGGGGGGAGGGAGGGAAGAGTCTGAGTCCTCGAGGTGGGTGAGTAAGCATGGATCATCGCTCATGTTTATAAGAAAGTGACAGAGGAACCTGGGGGCCGAGCGGCTTGTTTGTGGGCTGCCCCAGCCTCCGTGCGAGCGCTTCTCGCTTGGATGGAGGCGGGGCCGCAGTCTCCCAGGTCCCAGCTGGGGCTGACGTCGTCCTGGTGTGTGCCCAAAATAGCCGGCTCCGCCCTCTTCTCCCGGCAGCCCCTGCAGGCCCCCACCCCCCCAGGGGACAGGCGGAGCCGGCCTTCTCCCCGTCTCTAGTAGTTTCCGCACCGCTGACGCATGCCTGCGCGCACAGCTGGGCCGGGCGCGTCCTACGCAGCAGCCGCGAGCCGGGCTGCGGGTGCCAGACGGTTCCCGGCGGGGGGCAGGGGCGGGGCGCCGCAGGAGGCCGGGACTCCTGGCGGAGGAGGTGCGGCCGGGGGCCCGGGTCAGGCTGGGGGCCCTGGATCGGACTGCTGGAGTTGGGGGGCCCCGATAGGGCTCCTGGGCCTGGGCGTCGAGATAGCTCTTGGCCCCGGCCTGCGGGGGCAGATAAGGCTGCCGGAGGGAGCCTAGTCACCGGCCGCAAGCAGAGCCCGGTGTGCTCCGCTTCCAACTGGGAGCGCCTTCCGCCACCCGGGGAGGGGGACTGCTGCAGCCACAGGGTGGGGCTCTTGGTTCTTTCCGCCTGACTCCTTCTCTTCTGCAGCCCCAAGGAGGCCCGCCTGACGACTGACCAGTTGCCATGGCATCCTACTACGAGATCCTAGACGTGCCGCGAAGTGCGTCCGCTGATGACATCAAGAAGGCGTAAGTGCCTCCGTATGCAACAGAAGACCTCTCACCCTCCACCCGCCACCACCATGGGGCACTTCAGAGTGACACCTGTAGGTGTCTGAGGGAACCAGGTCGTTAGAAAGCACTGGGGTGCTTCTTCCGAGTGACACCTGCAGGGAGGAAAGAGACCCCTGGTAGAGTACAAGGAGAACGTCCAGAGAGTGAAGTAGTTAGTTCCTCTGGGAGCTGCACTGTGTTATGGGTTGTTCTCCAGTTGATCTTCCCCTCCTCCTCCTCCTCCTCCTCCTTTCCCCTCCCCTCCCCCTTCCCCCTAGATTTGGGCATTCTCAGGCTGCAGTGCAAAGATGCAGTGCAAAGAGGCTCTATGAGGAGGAGGGGCCGGTGTCCCTGTACTCTTCGAGGCCACATGTGCCCCAACCTTTGCAGCCCCAGTCCAGTGAGCCCTAGGGAGGGGCTAGGGACCCTGGCATTGTATCCGCTTGTACATGTGGTCCCAGCACTGGTGGCGGAGGAGAGAGGGTGGAACTTGATGAAAATATCACAGCAGCGGCAGCCCTAGCAGCTGGGGTGGACTGGGACCCGGGGGTGAAAGGACAGTGATAGGCTAATGGGAAAACAGGTCGTTCGGTTCCTGGGTGGGAAGTGCCTGCATTTGTCCCCCGACTCTCTCCTCTGCACCCACTTTCTGCAGGTATCGGCGCAAGGCTCTCCAGTGGCACCCAGACAAAAACCCAGATAATAAAGAGTTTGCTGAGAAGAAATTTAAGGAGGTGGCCGAGGCATATGAAGTGCTGTCTGACAGTAAGGGCCGGGGTCAGGCAGGACCCAGCACATCACCCCCTACTTCATGCCCCAGCTCACATTTTCTTAAAGCAATGTCTCTGCCACCTAGTTTCCTCTGTGCCTTTTTCCAGCCTGACATTTAAGCTCCCCCCTCCCACAGGGACAGCTCAGTGTCTGCTCCCCAGAGTCTGGTAGGAGTGGCTGGCATGAGACCTGAAAGGGGAAGGAAGCAGGGCAGGTAACTCATGTGAGCTGAGCCTCCTGCGTGCCAGGCATTGGTGGGTGTCATCTCCATGAGTTCTCACAGCCGTCCTATGAGGCAGGTTCTATCACCCCTATTTTACAGGCAAGGAAACTGAGGCTGAGAGAGGTGAAGTAACTTGCTCAAGGCCACGCAGAGCTGGAATATGAATCCAGGTCTGCCTTTTTATTGATTCATTCGAAAAGTAATTCAGTGAATGGTGACAGTGTCCGGCACTCGCTGGGTGCTGGGGAAACTGGAGGACAAGCAGGCACTGTCTTTGCCCAGAGGGGCAGGGAAGACCAACACCTACCAGGCACACACACAGACACAGTTACAGCTTGTGAAGAGTATTCCGAGGGAAGAAACAGGGCAGGTGGAGTGCTAGGGAATAATGTGCACTTGCTTTAGTTCTGGTGGTTGTAGAAGGCCTCTCCGAGAAGGTGACATTTAGGCTAAGCCCTGGTGAATAATAATGTAGTAATCATTAGCTAACATTTATTGAACACTTTCTATGTGTCAGGCACTGGTAGGCAGTTTACGTGGATGGTCTCATTTGATCTGTGCAACAACCCTGTGCGGTAGGTGTTGTGATGACAGCCATTTTCCAGATGAGAAGAGGCCAGCTGTGTGAAAGGCTGAGTTGCTGCCTAAACCTATAGCCCGTGTCCCCTGGGTCCCCTGCTGTGCCTGCTTTCCCCCGCCAAGTGTCAGAGTGTCAGTCTCTGGACAATCCTTTGAACGTCCTAGCCTGGGAGGGGAGCCCATCCCAGAGGGAGGGTGAAATGATCTGGTCTCTTTTTGCAGAGCACAAGCGGGAGATTTACGACCGCTATGGCCGGGAAGGGCTGACAGGGACAGGTAGGTGGAGTGGTGAG	A	A219277938C	DNAJB2	NM_001039550.2(DNAJB2):c.0_229+18del	noncoding	Pathogenic
2	219418432	T	TGCGCCCGCCAGCC	T219418446G	DES	NM_001927.4(DES):c.-30_-18dup	noncoding	Benign
2	219418687	GA	G	A219418688C	DES	NM_001927.4(DES):c.226del:p.Thr76fs	coding	Pathogenic
2	219418716	C	CT	A219418717T	DES	NM_001927.4(DES):c.254_255insT:p.Gly86fs	coding	Pathogenic
2	219418791	TGGAGCTGCA	T	G219418798C	DES	NM_001927.4(DES):c.336_344del:p.Gln113_Leu115del	coding	Pathogenic
2	219418955	CAGGTGGAGGTGCTCACTAACCAGCGCG	GCGT	C219418955G	DES	NM_001927.4(DES):c.493_520delinsGCGT:p.Gln165_Ala174delinsAlaSer	coding	Pathogenic
2	219418976	CAGCGCGCGCGCGTCGACGTCG	C	C219418983A	DES	NM_001927.4(DES):c.521_541del:p.Ala174_Arg180del	coding	Pathogenic
2	219420157	TGA	T	A219420159T	DES	NM_001927.4(DES):c.639+4_639+5del	noncoding	Pathogenic
2	219420658	TGG	T	G219420660T	DES	NM_001927.4(DES):c.897+4_897+5del	noncoding	Benign/Likely_benign
2	219421384	TGCCAGTGAG	T	A219421392G	DES	NM_001927.4(DES):c.1076_1084del:p.Glu359_Ser361del	coding	Pathogenic
2	219421404	ACCAGGACAACATTGCGCG	A	A219421407T	DES	NM_001927.4(DES):c.1091_1108del:p.Gln364_Arg369del	coding	Pathogenic
2	219421409	GACA	G	A219421413T	DES	NM_001927.4(DES):c.1094_1096ACA[1]:p.Asn366del	coding	Pathogenic
2	219421445	CTCAAGGATGAGATGGCCCGCCA	C	A219421448T	DES	NM_001927.4(DES):c.1132_1153del:p.Lys378fs	coding	Pathogenic
2	219421528	CT	C	T219421529A	DES	NM_001927.4(DES):c.1213del:p.Tyr405fs	coding	Pathogenic
2	219423783	TCTCCCCATCCAGACCTA	T	C219423787T	DES	NM_001927.4(DES):c.1255_1271del:p.Pro419fs	coding	Pathogenic
2	219425705	AGACG	A	A219425707T	DES	NM_001927.4(DES):c.1333_1336del:p.Lys444_Thr445insTer	coding	Pathogenic
2	219467207	CC	A	C219467207A	SPEG	NM_005876.5(SPEG):c.2915_2916delinsA:p.Ala972fs	coding	Pathogenic
2	219469370	ATGACACAGTGTACGTGTCTGGGAAGTTCCCCGGGAG	A	A219469373T	SPEG	NM_005876.5(SPEG):c.3709_3715+29del	coding	Pathogenic
2	219488491	TC	T	C219488495A	SPEG	NM_005876.5(SPEG):c.7859-3del	noncoding	Benign
2	219501545	GA	G	A219501547G	GMPPA	NM_013335.4(GMPPA):c.210del:p.Ala71fs	coding	Pathogenic
2	219563560	GA	G	A219563561C	OBSL1	NM_015311.3(OBSL1):c.2474del:p.Val825fs	coding	Pathogenic
2	219566914	GCAGGATGAGTCTGTGCTGCAGACCCTTCTGCTCTATACGGTACCGCAGGGCCC	G	A219566919T	OBSL1	NM_015311.3(OBSL1):c.1997_2049del:p.Gly666fs	coding	Pathogenic
2	219567009	TC	T	C219567013A	OBSL1	NM_015311.3(OBSL1):c.1954del:p.Glu652fs	coding	Pathogenic
2	219568063	G	GT	G219568065T	OBSL1	NM_015311.3(OBSL1):c.1273dup:p.Thr425fs	coding	Pathogenic
2	219568071	GGCCACGGTGC	G	C219568074A	OBSL1	NM_015311.3(OBSL1):c.1256_1265del:p.Arg419fs	coding	Pathogenic
2	219570384	GC	G	C219570387T	OBSL1	NM_015311.3(OBSL1):c.848del:p.Gly283fs	coding	Pathogenic
2	219570775	CC	A	C219570775A	OBSL1	NM_015311.3(OBSL1):c.457_458delinsT:p.Gly153fs	coding	Pathogenic
2	219571274	AG	A	G219571282T	OBSL1	NM_015311.3(OBSL1):c.-43del	noncoding	Benign
2	222220235	TGG	T	G222220236T	PAX3	NM_181458.4(PAX3):c.1076_1077del:p.Thr359fs	coding	Pathogenic
2	222221300	A	AC	G222221307C	PAX3	NM_181458.4(PAX3):c.879dup:p.Phe294fs	coding	Pathogenic
2	222221306	C	CG	A222221310G	PAX3	NM_181458.4(PAX3):c.873dup:p.Gly292fs	coding	Pathogenic
2	222232121	T	TC	T222232125C	PAX3	NM_181458.4(PAX3):c.748dup:p.Glu250fs	coding	Pathogenic
2	222232250	A	AT	A222232252T	PAX3	NM_181458.4(PAX3):c.619dup:p.Ile207fs	coding	Pathogenic
2	222294193	CTG	C	G222294197T	PAX3	NM_181458.4(PAX3):c.556_557CA[1]:p.His186fs	coding	Pathogenic
2	222294196	TG	T	G222294197T	PAX3	NM_181458.4(PAX3):c.556del:p.His186fs	coding	Pathogenic
2	222295580	GATTTCCCAGCTGA	G	T222295582C	PAX3	NM_181458.4(PAX3):c.386_398del:p.Phe129fs	coding	Pathogenic
2	222295609	CTCTTT	C	C222295611G	PAX3	NM_181458.4(PAX3):c.365_369del:p.Lys122fs	coding	Pathogenic
2	222297017	GCCAGTCTCCTGGTA	G	A222297020T	PAX3	NM_181458.4(PAX3):c.268_281del:p.Tyr90fs	coding	Pathogenic
2	222297096	CGGATGCCGTGGTGGGCCA	C	G222297097T	PAX3	NM_181458.4(PAX3):c.185_202del:p.Met62_Ile67del	coding	Pathogenic
2	222298547	GC	G	C222298548T	PAX3	NM_181458.4(PAX3):c.68del:p.Ser23fs	coding	Pathogenic
2	222298576	GC	G	C222298578G	PAX3	NM_181457.4(PAX3):c.39del:p.Pro14fs	coding	Pathogenic
2	222600060	G	TT	G222600060T	FARSB	NM_005687.5(FARSB):c.1486delinsAA:p.His496fs	coding	Pathogenic
2	224470508	TA	T	A224470510C	CUL3	NM_003590.5(CUL3):c.*3736del	noncoding	Benign
2	224503647	CTTACCT	C	C224503651A	CUL3	NM_003590.5(CUL3):c.1376_1377+4del	noncoding	Pathogenic
2	224503650	A	AC	T224503653C	CUL3	NM_003590.4(CUL3):c.1376_1377insG:p.Thr460Aspfs	noncoding	Pathogenic
2	224503678	CAG	C	A224503681T	CUL3	NM_003590.5(CUL3):c.1347_1348CT[1]:p.Asp449_Ser450insTer	coding	Pathogenic
2	226796569	TACC	T	A226796573G	IRS1	NM_005544.2(IRS1):c.2164_2166GGT[1]:p.Gly723del	coding	Pathogenic
2	227005204	GT	G	T227005216A	COL4A4	NM_000092.4(COL4A4):c.*2120del	noncoding	Benign
2	227006550	A	AT	C227006559T	COL4A4	NM_000092.4(COL4A4):c.*774dup	noncoding	Benign
2	227006758	AT	A	T227006769C	COL4A4	NM_000092.4(COL4A4):c.*566del	noncoding	Benign
2	227007577	AG	A	G227007578C	COL4A4	NM_000092.4(COL4A4):c.4820del:p.Ala1607fs	coding	Pathogenic
2	227008113	GGGCCTCGCATACCGCACAGC	G	C227008117T	COL4A4	NM_000092.4(COL4A4):c.4694_4713del:p.Arg1565fs	coding	Pathogenic
2	227008195	GGCCA	G	C227008201T	COL4A4	NM_000092.5(COL4A4):c.4624_4627TGGC[1]:p.Leu1543fs	coding	Pathogenic
2	227008202	C	CAGTA	G227008207A	COL4A4	NM_000092.4(COL4A4):c.4621_4624dup:p.Trp1542fs	coding	Pathogenic
2	227008222	CTG	C	T227008223G	COL4A4	NM_000092.5(COL4A4):c.4603_4604del:p.Gln1535fs	coding	Pathogenic
2	227010364	AC	A	C227010367A	COL4A4	NM_000092.5(COL4A4):c.4470del:p.Tyr1491fs	coding	Pathogenic
2	227010371	C	CCAGA	G227010376C	COL4A4	NM_000092.4(COL4A4):c.4460_4463dup:p.Trp1488fs	coding	Pathogenic
2	227030554	T	TGA	C227030555G	COL4A4	NM_000092.4(COL4A4):c.3861_3862insTC:p.Arg1288fs	coding	Pathogenic
2	227030555	C	GAG	C227030555G	COL4A4	NM_000092.4(COL4A4):c.3861delinsCTC:p.Arg1288fs	coding	Pathogenic/Likely_pathogenic
2	227030581	C	CT	G227030583T	COL4A4	NM_000092.4(COL4A4):c.3834dup:p.Gly1279fs	coding	Pathogenic
2	227032149	TG	T	G227032154T	COL4A4	NM_000092.5(COL4A4):c.3704del:p.Pro1235fs	coding	Pathogenic
2	227047541	C	CT	G227047545T	COL4A4	NM_000092.4(COL4A4):c.3222dup:p.Gly1075fs	coding	Pathogenic
2	227051016	TAG	T	G227051018C	COL4A4	NM_000092.4(COL4A4):c.3109_3110del:p.Leu1037fs	coding	Pathogenic
2	227054627	G	GGT	C227054629T	COL4A4	NM_000092.4(COL4A4):c.2826_2827insAC:p.Leu943fs	coding	Pathogenic
2	227054691	TC	T	C227054693T	COL4A4	NM_000092.5(COL4A4):c.2762del:p.Gly921fs	coding	Pathogenic
2	227056021	TGC	T	G227056022C	COL4A4	NM_000092.4(COL4A4):c.2638_2639del:p.Ala880fs	coding	Pathogenic
2	227056022	GC	G	C227056026A	COL4A4	NM_000092.4(COL4A4):c.2638del:p.Ala880fs	coding	Pathogenic
2	227057563	AC	A	C227057565T	COL4A4	NM_000092.4(COL4A4):c.2420del:p.Gly807fs	coding	Pathogenic
2	227057598	GC	G	C227057601T	COL4A4	NC_000002.12:g.227057601del	coding	Pathogenic
2	227059410	GC	G	C227059414T	COL4A4	NM_000092.5(COL4A4):c.2377del:p.Ala793fs	coding	Pathogenic
2	227059508	T	TC	G227059512C	COL4A4	NM_000092.4(COL4A4):c.2279dup:p.Asp761fs	coding	Pathogenic/Likely_pathogenic
2	227059555	C	CT	G227059557T	COL4A4	NM_000092.5(COL4A4):c.2232dup:p.Gly745fs	coding	Pathogenic
2	227059568	A	AG	A227059573G	COL4A4	NM_000092.5(COL4A4):c.2219dup:p.Val741fs	coding	Pathogenic
2	227059616	AC	A	C227059617G	COL4A4	NM_000092.5(COL4A4):c.2171del:p.Arg724fs	coding	Pathogenic
2	227077991	TG	T	G227077996C	COL4A4	NM_000092.4(COL4A4):c.1889del:p.Pro630fs	coding	Pathogenic
2	227088695	AC	A	C227088697T	COL4A4	NM_000092.5(COL4A4):c.1580del:p.Gly527fs	coding	Pathogenic/Likely_pathogenic
2	227089937	TC	T	C227089940A	COL4A4	NM_000092.5(COL4A4):c.1389del:p.Asn464fs	coding	Pathogenic
2	227094121	TTACCACTTGATCCTGGGAGGCCCTGCAGGCCTGGTGCTCCAGGCAAGCCAGG	T	A227094123G	COL4A4	NM_000092.4(COL4A4):c.1321_1369+3del	noncoding	Pathogenic
2	227094256	GGAAATCCTTGTGGCCCA	G	A227094258G	COL4A4	NM_000092.4(COL4A4):c.1221_1237del:p.Gly408fs	coding	Pathogenic
2	227094272	CA	C	A227094273G	COL4A4	NM_000092.5(COL4A4):c.1221del:p.Pro409fs	coding	Pathogenic
2	227094273	AG	A	G227094278T	COL4A4	NM_000092.5(COL4A4):c.1220del:p.Pro407fs	coding	Pathogenic
2	227098736	C	CA	G227098738A	COL4A4	NM_000092.5(COL4A4):c.1161dup:p.Gly388fs	coding	Pathogenic
2	227102759	TCACTGATGTTAACAGCAAATGATGCTTACCCGAGGCCCTGGAAATC	T	C227102762G	COL4A4	NM_000092.4(COL4A4):c.914_930+29del	noncoding	Pathogenic/Likely_pathogenic
2	227104055	T	TA	G227104066A	COL4A4	NM_000092.5(COL4A4):c.736-13dup	noncoding	Benign
2	227108843	G	GGACGC	C227108849G	COL4A4	NM_000092.5(COL4A4):c.678_682dup:p.Pro228fs	coding	Pathogenic
2	227121109	GTCCAA	G	C227121111T	COL4A4	NM_000092.5(COL4A4):c.227_231del:p.Ile76fs	coding	Pathogenic
2	227140159	AC	TACATCA	A227140159T	COL4A4	NM_000092.5(COL4A4):c.192+1_192+2delinsTGATGTA	noncoding	Pathogenic
2	227164755	AGGTGCTCCTGCTGCCGCTCCTGCT	A	C227164766G	COL4A3	NM_000091.4(COL4A3):c.40_63del:p.Leu14_Leu21del	coding	Pathogenic
2	227164758	TG	T	G227164759C	COL4A3	NM_000091.5(COL4A3):c.33del:p.Leu12fs	coding	Pathogenic
2	227245971	CG	C	G227245974C	COL4A3	NM_000091.5(COL4A3):c.345del	coding	Pathogenic
2	227251150	GCCCT	G	C227251153A	COL4A3	NM_000091.5(COL4A3):c.560_563del:p.Pro187fs	coding	Pathogenic
2	227253581	AC	A	C227253586G	COL4A3	NM_000091.5(COL4A3):c.713del:p.Pro238fs	coding	Pathogenic
2	227254161	C	CT	C227254163T	COL4A3	NM_000091.5(COL4A3):c.816dup:p.Pro273fs	coding	Pathogenic
2	227254659	C	CT	G227254661T	COL4A3	NM_000091.4(COL4A3):c.833dup:p.Pro279fs	coding	Pathogenic/Likely_pathogenic
2	227256027	GA	G	A227256031C	COL4A3	NM_000091.5(COL4A3):c.894del:p.Lys298fs	coding	Pathogenic
2	227259874	CA	C	A227259876G	COL4A3	NM_000091.5(COL4A3):c.1113del:p.Gly372fs	coding	Pathogenic
2	227266505	CA	C	A227266508G	COL4A3	NM_000091.5(COL4A3):c.1407del:p.Gly470fs	coding	Pathogenic
2	227276390	A	AG	A227276395G	COL4A3	NM_000091.5(COL4A3):c.1937dup:p.Glu647fs	coding	Pathogenic
2	227276410	AACACCAGTTCCAGGCCCACCAGG	A	A227276413C	COL4A3	NM_000091.5(COL4A3):c.1956_1978del:p.Pro653fs	coding	Pathogenic
2	227277450	T	TATCCCTGG	G227277467A	COL4A3	NM_000091.4(COL4A3):c.2023_2030ATCCCTGG[3]:p.Gly680fs	coding	Pathogenic
2	227279826	TG	T	G227279829T	COL4A3	NM_000091.5(COL4A3):c.2162del:p.Gly721fs	coding	Pathogenic
2	227279838	G	GA	T227279844A	COL4A3	NM_000091.4(COL4A3):c.2176dup:p.Met726fs	coding	Pathogenic
2	227280930	A	AC	A227280936C	COL4A3	NM_000091.4(COL4A3):c.2417dup:p.Gly807fs	coding	Pathogenic/Likely_pathogenic
2	227282497	GA	T	G227282497T	COL4A3	NM_000091.4(COL4A3):c.2621_2622delinsT:p.Gly874fs	coding	Pathogenic
2	227284229	GAGTAAAGGGCC	G	T227284232A	COL4A3	NM_000091.4(COL4A3):c.2768_2778del:p.Val923fs	coding	Pathogenic
2	227290028	AATCCTGGAGAACCAGGACTGCGTGGT	A	C227290031A	COL4A3	NM_000091.5(COL4A3):c.3013_3038del:p.Pro1005fs	coding	Pathogenic
2	227290793	AAG	A	G227290795C	COL4A3	NM_000091.5(COL4A3):c.3119_3120del:p.Arg1040fs	coding	Pathogenic
2	227293218	GGAAA	G	A227293224G	COL4A3	NM_000091.4(COL4A3):c.3244_3247delAAAG	coding	Pathogenic
2	227293286	CCCTGGAAGT	C	A227293301C	COL4A3	NM_000091.5(COL4A3):c.3312_3320AAGTCCTGG[1]:p.1105_1107SPG[1]	coding	Pathogenic/Likely_pathogenic
2	227294505	A	ATGGTGATT	G227294517T	COL4A3	NM_000091.5(COL4A3):c.3357_3364dup:p.Gly1122fs	coding	Pathogenic
2	227295295	A	AGAG	G227295300A	COL4A3	NM_000091.4(COL4A3):c.3546_3548dup:p.Gly1183dup	coding	Pathogenic/Likely_pathogenic
2	227297687	CA	C	A227297688G	COL4A3	NM_000091.5(COL4A3):c.3580del:p.Arg1194fs	coding	Pathogenic
2	227297776	TC	T	C227297779A	COL4A3	NM_000091.5(COL4A3):c.3671del:p.Pro1224fs	coding	Pathogenic
2	227298740	AG	A	G227298743T	COL4A3	NM_000091.4(COL4A3):c.3813del:p.Ser1272fs	coding	Pathogenic
2	227307792	CTT	C	T227307794G	COL4A3	NM_000091.5(COL4A3):c.4337_4338del:p.Phe1446fs	coding	Pathogenic
2	227307800	TCACCCGA	T	C227307804A	COL4A3	NM_000091.4(COL4A3):c.4347_4353del:p.Arg1450fs	coding	Pathogenic
2	227307867	GTTTTC	G	C227307877T	COL4A3	NM_000091.4(COL4A3):c.4420_4424del5	coding	Pathogenic
2	227310822	CT	C	T227310823G	COL4A3	NM_000091.4(COL4A3):c.4803del:p.Gly1602fs	coding	Pathogenic/Likely_pathogenic
2	227329764	AG	TT	A227329764T	MFF	NM_001277062.2(MFF):c.-40-862_-40-861delinsTT	coding	Benign
2	227330769	A	AC	T227330772C	MFF	NM_001277062.2(MFF):c.106dup:p.Leu36fs	coding	Pathogenic
2	227332520	AC	A	C227332521G	MFF	NM_001277062.2(MFF):c.284del:p.Thr95fs	coding	Pathogenic
2	227340311	TAA	T	A227340315G	MFF	NM_001277062.2(MFF):c.375_376del:p.Glu127fs	coding	Pathogenic
2	227688200	TCTA	T	T227688205A	SLC19A3	NM_025243.4(SLC19A3):c.1274_1276TAG[1]:p.Val426del	coding	Pathogenic
2	227695981	T	TA	G227695985A	SLC19A3	NM_025243.4(SLC19A3):c.1079dup:p.Leu360fs	coding	Pathogenic
2	227696084	GA	G	A227696092C	SLC19A3	NM_025243.4(SLC19A3):c.980-4del	noncoding	Benign
2	227698789	GATGGCGCCTTGTAATCCCACAGGATTTGAAC	G	G227698792A	SLC19A3	NM_025243.4(SLC19A3):c.895_925del:p.Val299fs	coding	Pathogenic
2	227699117	G	GA	C227699124A	SLC19A3	NM_025243.4(SLC19A3):c.597dup:p.His200fs	coding	Pathogenic/Likely_pathogenic
2	227702236	A	ATC	A227702239T	SLC19A3	NM_025243.4(SLC19A3):c.81_82dup:p.Met28fs	coding	Pathogenic
2	227702244	G	GA	C227702251A	SLC19A3	NM_025243.4(SLC19A3):c.74dup:p.Ser26fs	coding	Pathogenic
2	227902992	TG	T	G227902993T	DAW1	NM_178821.3(DAW1):c.541-9del	noncoding	Benign
2	229588495	A	AG	A229588499G	DNER	NM_139072.4(DNER):c.586-10dup	noncoding	Benign
2	229778890	AGAGT	A	G229778891T	TRIP12	NM_001284214.2(TRIP12):c.5110_5113del:p.Thr1704fs	coding	Pathogenic
2	229791912	T	TG	C229791914G	TRIP12	NM_001348323.3(TRIP12):c.4368dup:p.Asn1457fs	coding	Pathogenic
2	229793037	AC	A	C229793040T	TRIP12	NM_001348323.3(TRIP12):c.4076del:p.Gly1359fs	coding	Pathogenic
2	229793128	CCT	C	C229793131G	TRIP12	NM_001284214.2(TRIP12):c.3901_3902AG[1]:p.Gly1302fs	coding	Pathogenic
2	229796649	TC	T	C229796651T	TRIP12	NM_001348323.3(TRIP12):c.3757del:p.Asp1253fs	coding	Pathogenic
2	229796734	CTG	C	T229796735A	TRIP12	NM_001284214.2(TRIP12):c.3590_3591del:p.Val1196_Ser1197insTer	coding	Pathogenic
2	229797823	A	AT	C229797830T	TRIP12	NM_001348323.3(TRIP12):c.3490dup:p.Ile1164fs	coding	Pathogenic
2	229802253	C	CT	G229802256T	TRIP12	NM_001284214.2(TRIP12):c.3123dup:p.Gly1042fs	coding	Pathogenic
2	229814250	TACTATGTCTCCGTGACAACATCTCC	T	C229814252A	TRIP12	NM_001348323.3(TRIP12):c.1782_1806del:p.Glu595fs	coding	Pathogenic
2	229830830	GA	G	A229830832C	TRIP12	NM_001284214.2(TRIP12):c.1279del:p.Ser427fs	coding	Pathogenic
2	229859211	ACT	A	C229859216G	TRIP12	NM_001284214.2(TRIP12):c.582_583AG[2]:p.Ser196fs	coding	Pathogenic
2	229859312	GT	G	T229859314G	TRIP12	NM_001284214.2(TRIP12):c.486del:p.Gln162fs	coding	Pathogenic
2	230168917	A	ATTAATT	T230168920A	SP110	NM_004509.4(SP110):c.*206_*207insAATTAA	noncoding	Benign
2	230172858	AG	A	G230172864A	SP110	NM_080424.4(SP110):c.1691del:p.Pro564fs	coding	Pathogenic
2	230178208	C	CG	A230178213G	SP110	NM_004509.4(SP110):c.1395dup:p.Val466fs	coding	Pathogenic
2	230211534	G	GA	T230211536A	SP110	NM_080424.4(SP110):c.686dup:p.Gln231fs	coding	Pathogenic
2	230212345	A	AC	T230212348C	SP110	NM_080424.2(SP110):c.667+1dup	noncoding	Pathogenic
2	230212371	TG	T	G230212374C	SP110	NM_004509.4(SP110):c.642del:p.Ser215fs	coding	Pathogenic
2	230212970	GT	G	T230212972G	SP110	NM_004509.4(SP110):c.373del:p.Thr125fs	coding	Pathogenic
2	230213018	G	GAAGCACC	C230213028G	SP110	NM_004509.4(SP110):c.319_325dup:p.Ser109fs	coding	Pathogenic
2	230216849	TG	AT	T230216849A	SP110;SP140	NM_004509.4(SP110):c.78_79delinsAT:p.Ile27Leu	coding	Pathogenic
2	230216887	TG	T	G230216888A	SP110	NM_004509.4(SP110):c.40del:p.Gln14fs	coding	Pathogenic
2	231272950	ATCAGGTCGCCTCTACCTTGCCCAGAACACAAAGGTGCTGCAGATGCTGGAGGGAAGGCTGAAGGAGGAGGACAAGGATATCATCACCAGGGAGAATGTTCTTGGGGCCCTGCAGAAGTTCAGTC	A	C231272957A	ARMC9	NM_025139.5(ARMC9):c.1211_1334del:p.Arg405Alafs	noncoding	Pathogenic
2	231460685	TTCC	T	C231460694A	NCL	NM_005381.3(NCL):c.786_788GGA[2]:p.Glu271del	coding	Benign
2	232030035	T	TG	A232030040G	DIS3L2	NM_152383.5(DIS3L2):c.325dup:p.Asp109fs	coding	Pathogenic
2	232087660	C	CA	T232087662A	DIS3L2	NM_152383.5(DIS3L2):c.541dup:p.Ile181fs	coding	Pathogenic
2	232087696	ACT	A	T232087700A	DIS3L2	NM_152383.5(DIS3L2):c.580_581del:p.Val195fs	coding	Pathogenic
2	232130660	AC	A	C232130662T	DIS3L2	NM_152383.5(DIS3L2):c.645del:p.Cys216fs	coding	Pathogenic
2	232136567	CCT	C	C232136568G	DIS3L2	NM_152383.5(DIS3L2):c.799_800del:p.Leu267fs	coding	Pathogenic
2	232263333	CCAGAGCATAG	C	A232263337C	DIS3L2	NM_152383.5(DIS3L2):c.1556_1565del:p.Glu519fs	coding	Pathogenic
2	232263352	AG	A	G232263354T	DIS3L2	NM_152383.5(DIS3L2):c.1573del:p.Val525fs	coding	Pathogenic
2	232263391	AGCAGTTA	G	A232263391G	DIS3L2	NM_152383.5(DIS3L2):c.1610_1617delinsG:p.Lys537fs	coding	Pathogenic
2	232329858	C	CA	G232329861A	DIS3L2	NM_152383.5(DIS3L2):c.1787dup:p.Ile597fs	coding	Pathogenic
2	232329908	CG	C	G232329909C	DIS3L2	NM_152383.5(DIS3L2):c.1836del:p.Gln614fs	coding	Pathogenic
2	232330748	TC	T	C232330749A	DIS3L2	NM_152383.5(DIS3L2):c.1983del:p.Thr662fs	coding	Pathogenic
2	232333916	AC	A	C232333917A	DIS3L2	NM_152383.5(DIS3L2):c.2088del:p.Leu695_Tyr696insTer	coding	Pathogenic
2	232334478	CT	C	T232334480C	DIS3L2	NM_152383.5(DIS3L2):c.2270del:p.Phe757fs	coding	Pathogenic
2	232485253	CCCAT	AGC	C232485253A	ECEL1	NM_004826.4(ECEL1):c.797_801delinsGCT:p.Asp266fs	coding	Pathogenic
2	232485937	G	GT	A232485939T	ECEL1	NM_004826.4(ECEL1):c.716dup:p.Tyr239Ter	coding	Pathogenic
2	232486124	TGGGCCGCGCCGCCAGGCCCACCCCC	T	G232486135A	ECEL1	NM_004826.4(ECEL1):c.505_529del:p.Gly169fs	coding	Pathogenic
2	232486144	AC	A	C232486149G	ECEL1	NM_004826.4(ECEL1):c.509del:p.Gly170fs	coding	Pathogenic
2	232486298	CTGGCGTCCAGGT	C	T232486304G	ECEL1	NM_004826.4(ECEL1):c.344_355del:p.Asn115_Ala118del	coding	Pathogenic
2	232486375	GC	G	C232486377G	ECEL1	NM_004826.4(ECEL1):c.278del:p.Gly93fs	coding	Pathogenic
2	232486498	CAGCCCGGACCGGGCCCCGGTGGCGCTGCGCGCAGCGCCCAACGGGA	C	A232486506G	ECEL1	NM_004826.4(ECEL1):c.110_155del:p.Phe37fs	coding	Pathogenic
2	232523180	C	CG	C232523187G	PRSS56	NM_001195129.2(PRSS56):c.833dup:p.Val279fs	coding	Pathogenic
2	232523817	A	AC	A232523826C	PRSS56	NM_001195129.2(PRSS56):c.1066dup:p.Gln356fs	coding	Pathogenic/Likely_pathogenic
2	232528872	T	TATAC	G232528877A	CHRND	NM_000751.3(CHRND):c.521_524dup:p.Ala176fs	coding	Pathogenic
2	232530138	CAG	C	A232530139T	CHRND	NM_000751.3(CHRND):c.820_820+1del	coding	Pathogenic
2	232540049	A	AC	A232540054C	CHRNG	NM_005199.5(CHRNG):c.117dup:p.Asn40fs	coding	Pathogenic
2	232540660	T	TGAGGGTGCC	T232540671A	CHRNG	NM_005199.5(CHRNG):c.301_309dup:p.Arg101_Pro103dup	coding	Pathogenic
2	232541419	GT	G	T232541420C	CHRNG	NM_005199.5(CHRNG):c.397del:p.Ser133fs	coding	Pathogenic
2	232541423	CCT	C	C232541424G	CHRNG	NM_005199.5(CHRNG):c.401_402del:p.Pro134fs	coding	Pathogenic
2	232541481	C	CA	G232541483A	CHRNG	NM_005199.5(CHRNG):c.459dup:p.Val154fs	coding	Pathogenic
2	232543029	CCT	C	C232543030G	CHRNG	NM_005199.5(CHRNG):c.753_754del:p.Val253fs	coding	Pathogenic
2	232543510	AG	A	G232543517C	CHRNG	NM_005199.5(CHRNG):c.921-68del	noncoding	Benign
2	232768779	AT	A	T232768785G	KCNJ13	NM_002242.4(KCNJ13):c.494del:p.Asn165fs	coding	Pathogenic
2	232847515	C	CCG	A232847517G	GIGYF2	NM_001103146.3(GIGYF2):c.3629_3630insGC:p.Gln1211fs	coding	Benign/Likely_benign
2	233335078	CA	C	A233335081C	SAG	NM_000541.5(SAG):c.926del:p.Asn309fs	coding	Pathogenic
2	233450046	AGAG	A	G233450050A	DGKD	NM_152879.3(DGKD):c.1954_1956GAG[1]:p.Glu653del	coding	Benign
2	233450917	T	TA	C233450919A	DGKD	NM_152879.3(DGKD):c.2039-4dup	noncoding	Benign
2	233760524	C	CCGTA	C233760526G	UGT1A1	NM_001072.4(UGT1A6):c.862-6509_862-6508insGTAC	coding	Pathogenic
2	233760525	C	CCGTA	T233760527G	covers_10_genes,_none_of_which_curated_to_show_dosage_sensitivity	NM_000463.3(UGT1A1):c.239_240insGTAC:p.Val81fs	coding	Pathogenic
2	233760634	T	TA	G233760641A	UGT1A1	NM_001072.4(UGT1A6):c.862-6394dup	coding	Pathogenic
2	233760761	C	CT	A233760762T	UGT1A1	NM_001072.4(UGT1A6):c.862-6273_862-6272insT	coding	Pathogenic
2	233760794	ATTC	A	C233760800G	UGT1A1	NM_001072.4(UGT1A6):c.862-6234_862-6232del	coding	Pathogenic
2	233760908	G	GCAGC	G233760913C	UGT1A1	NM_000463.3(UGT1A1):c.622_625dup:p.Arg209fs	coding	Pathogenic
2	233761002	CAG	C	A233761009G	UGT1A1	NM_001072.4(UGT1A6):c.862-6031AG[3]	coding	Pathogenic
2	233767046	TACATTAATGCTTC	A	T233767046A	UGT1A1	NM_001072.4(UGT1A6):c.874_887delinsA:p.Tyr292fs	coding	Pathogenic
2	233814655	A	AGG	C233814660G	MROH2A	NM_001367507.1(MROH2A):c.2837_2838dup:p.Leu947fs	coding	Benign
2	237336168	CT	C	T237336169G	COL6A3	NM_004369.3(COL6A3):c.8931del:p.Ala2978fs	coding	Pathogenic
2	237336220	TGCA	T	A237336232G	COL6A3	NM_057166.5(COL6A3):c.7047_7049TGC[3]:p.Ala2353del	coding	Benign
2	237336409	CACAGGCTTTGTTGTGGTGGTT	C	T237336430C	COL6A3	NM_004369.4(COL6A3):c.8670_8690del:p.2878_2884TTTKPVT[2]	coding	Benign
2	237339123	GA	G	A237339131C	COL6A3	NM_004369.4(COL6A3):c.8465-7del	noncoding	Benign/Likely_benign
2	237339123	G	GA	C237339132A	COL6A3	NM_004369.4(COL6A3):c.8465-14dup	noncoding	Benign/Likely_benign
2	237341118	CAA	C	A237341120T	COL6A3	NM_004369.3(COL6A3):c.7796_7797del:p.Phe2599fs	coding	Pathogenic
2	237342109	AG	A	G237342111T	COL6A3	NM_004369.4(COL6A3):c.7720del:p.Leu2574fs	coding	Pathogenic
2	237344475	AG	A	G237344476A	COL6A3	NM_004369.3(COL6A3):c.7542del:p.Phe2515fs	coding	Pathogenic
2	237348263	G	GA	C237348264A	COL6A3	NM_004369.3(COL6A3):c.6966+85_6966+86insT	noncoding	Benign
2	237354960	TG	T	G237354961T	COL6A3	NM_004369.3(COL6A3):c.6592-27del	noncoding	Benign/Likely_benign
2	237359234	ATTTCTCCTACTTCGCCCTAAGAGGGAATAAGGCGGACAGGTAAG	A	T237359236A	COL6A3	NM_004369.4(COL6A3):c.6310-28_6325del	coding	Pathogenic/Likely_pathogenic
2	237359333	ATTTGTAAAACAAAACCAAGCTTGCATACCTTCTCTCCTGGGAATCCCCGAGAGCCCTAGAAGGCAAGGCGATAGGGGAAGCATTAGCTTTTCCTGCAGGGCTGGTCCCTCGGGCAGAAGAGGCCAAGGGCTGTTCCCCCACTCCACCCCATTTGAATGTTGCAGTGTCTGAAAATGTAATATTAGAGTCCTACCCCTTTGGATTCCTCTCTCACCACCACGTGCGATGTTTTAAAACTAAAACTAGAACTGAATGCTTGGGTGGTCTTGGCTCCCTGGGCCGGCGGGGGTGGACCCCAAAACCCAGGGCAAGGAGCTGACTTTGTAACTTTGCAGCCCTTCCCTTCAGCACCTGCCTTCAAACTTCAGCAAACAGAGAAGCAAGTTCACCAGCCTTCAACCCACCTGCTGTCCTCTCACTCCACTCCCTTCCCTGACTGCTCCCACGGTCCAGGGCCGGGGCCGTGGGCACCAGCCTACCCTCCGCCCTGGCCCATGTTCTCTCCTTGTGAGGGTTTCCTGGCTTCTTCATGTTTCCACAGGAAACTATTTCTCCATTCTCAGGCTCCCCACCAGCTGCAGCCCCTGCTCCTGAACCCACCCTGCTCAGAACTGCCTTCCAATGAGAGGTCACGGGCTGCTGAATGCTGAGGTCAAGAAGCCTGGACCAGCGCCTCCCTCCCTGGCAGCATCTGGAGAAACTGCGAGTCACCTGACCCCTCCCCACGCTAGCAACCCCATCACCCACGCCTCACCTTTACTCCTCTCTGGCCCGGGCAGCCCTGGAAACCTTGAGTGCCGTTCACACCAGGCGGACCACGCTCAC	A	T237359334C	COL6A3	NM_004369.3(COL6A3):c.6212_6309+28del	noncoding	Pathogenic
2	237363239	T	TA	C237363248A	COL6A3	NM_004369.4(COL6A3):c.6063+6dup	noncoding	Benign
2	237366706	AC	A	C237366708A	COL6A3	NM_004369.3(COL6A3):c.5480del:p.Gly1827fs	coding	Pathogenic
2	237368563	CT	C	T237368564G	COL6A3	NM_004369.4(COL6A3):c.4899del:p.Glu1634fs	coding	Pathogenic
2	237371892	CT	C	T237371893G	COL6A3	NM_004369.3(COL6A3):c.4124del:p.Gln1375fs	coding	Pathogenic
2	237376853	CTGCA	C	T237376854G	COL6A3	NM_004369.3(COL6A3):c.2985_2988del:p.Ala996fs	coding	Pathogenic
2	237388132	TC	T	C237388134G	COL6A3	NM_057164.5(COL6A3):c.92-6634del	coding	Pathogenic
2	238271488	AG	A	G238271491A	PER2	NM_022817.3(PER2):c.595del:p.Leu199fs	coding	Pathogenic
2	238349323	AG	A	G238349324A	TRAF3IP1	NM_015650.4(TRAF3IP1):c.1368-1del	noncoding	Pathogenic
2	238848379	GC	G	C238848383A	TWIST2	NM_001271893.4(TWIST2):c.168del:p.Ser57fs	coding	Pathogenic
2	238848438	G	GAGCGCC	A238848450C	TWIST2	NM_001271893.4(TWIST2):c.229_234dup:p.Gln77_Arg78dup	coding	Pathogenic
2	239190174	CG	C	G239190184T	HDAC4	NM_006037.3(HDAC4):c.95-98del	noncoding	Benign
2	239961190	TG	T	G239961195A	NDUFA10	NM_004544.4(NDUFA10):c.1000-5del	noncoding	Benign/Likely_benign
2	239961195	GA	G	A239961200G	NDUFA10	NM_004544.4(NDUFA10):c.1000-10del	noncoding	Benign/Likely_benign
2	240021272	A	AATT	C240021274T	NDUFA10	NM_004544.4(NDUFA10):c.384_385insAAT:p.Tyr129_Arg130insAsn	coding	Pathogenic
2	240022479	TG	T	G240022480T	NDUFA10	NM_004544.4(NDUFA10):c.76-140del	noncoding	Benign
2	240024976	CCT	C	C240024977G	NDUFA10	NM_004544.4(NDUFA10):c.75+249_75+250del	noncoding	Benign
2	240594547	G	GAAGGGTGGAGCCAGGTAGATGC	G240594571A	CAPN10	NM_023083.4(CAPN10):c.837_858dup:p.Ala287fs	coding	Pathogenic
2	240718111	T	TG	C240718114G	KIF1A	NM_004321.8(KIF1A):c.4968dup:p.Ser1657fs	coding	Pathogenic
2	240725078	CA	C	A240725079T	KIF1A	NM_004321.7(KIF1A):c.3953+192del	noncoding	Benign
2	240757336	CA	C	A240757337G	KIF1A	NM_001244008.2(KIF1A):c.2840del:p.Leu947fs	coding	Pathogenic
2	240757423	A	ATCC	C240757457T	KIF1A	NM_004321.7(KIF1A):c.2555+904GGA[12]	coding	Benign/Likely_benign
2	240757423	ATCC	A	T240757454C	KIF1A	NM_004321.7(KIF1A):c.2555+904GGA[10]	coding	Benign
2	240771097	A	AT	G240771100T	KIF1A	NM_004321.7(KIF1A):c.1187dup:p.Asn396fs	coding	Pathogenic
2	240782623	CAGAG	C	A240782628G	KIF1A	NM_004321.8(KIF1A):c.865-24CT[2]	noncoding	Benign
2	240783089	CTTG	C	T240783093A	KIF1A	NM_004321.8(KIF1A):c.813CAA[1]:p.Asn272del	coding	Pathogenic
2	240788191	G	GGTC	A240788194C	KIF1A	NM_004321.7(KIF1A):c.222_223insGAC:p.Arg75_Asp76insAsp	coding	Pathogenic
2	240797742	GC	G	C240797746G	KIF1A	NM_004321.8(KIF1A):c.10del:p.Ala4fs	coding	Pathogenic
2	240868867	TG	AT	T240868867A	AGXT	NM_000030.3(AGXT):c.2_3delinsAT:p.Met1Asn	coding	Pathogenic
2	240868890	A	AC	A240868899C	AGXT	NM_000030.3(AGXT):c.33dup:p.Lys12fs	coding	Pathogenic
2	240868890	AC	A	C240868898A	AGXT	NM_000030.3(AGXT):c.33del:p.Lys12fs	coding	Pathogenic/Likely_pathogenic
2	240868890	ACC	A	C240868897A	AGXT	NM_000030.3(AGXT):c.32_33del:p.Pro11fs	coding	Pathogenic
2	240868946	GC	G	C240868948T	AGXT	NM_000030.3(AGXT):c.83del:p.Pro28fs	coding	Pathogenic
2	240868985	CG	C	G240868991C	AGXT	NM_000030.3(AGXT):c.126del:p.Leu43fs	coding	Pathogenic
2	240869217	G	GA	C240869220A	AGXT	NM_000030.3(AGXT):c.215dup:p.Asn72fs	coding	Pathogenic
2	240869279	AT	A	T240869280G	AGXT	NM_000030.3(AGXT):c.276del:p.Asn92fs	coding	Pathogenic
2	240869285	T	TGGA	C240869290G	AGXT	NM_000030.3(AGXT):c.283_285dup:p.Glu95dup	coding	Pathogenic
2	240869326	TG	T	G240869331C	AGXT	NM_000030.3(AGXT):c.327del:p.Gln110fs	coding	Pathogenic
2	240870639	CCCAGGAGCCCGAGTGCACCCGATGA	C	G240870643A	AGXT	NM_000030.3(AGXT):c.359-1_382del	noncoding	Pathogenic
2	240870655	CACCCGATG	C	C240870659A	AGXT	NM_000030.3(AGXT):c.374_381del:p.Pro125fs	coding	Pathogenic
2	240870688	A	ACACTG	G240870696C	AGXT	NM_000030.3(AGXT):c.406_410dup:p.Gln137fs	coding	Pathogenic
2	240870698	AGGT	A	T240870701A	AGXT	NM_000030.3(AGXT):c.416_418del:p.Val139del	coding	Pathogenic
2	240871369	AG	A	G240871370T	AGXT	NM_000030.3(AGXT):c.445del:p.Val149fs	coding	Pathogenic
2	240871369	AGTGCTGCT	A	G240871372T	AGXT	NM_000030.3(AGXT):c.447_454del:p.Leu151fs	coding	Pathogenic
2	240871383	TA	T	A240871385C	AGXT	NM_000030.3(AGXT):c.460del:p.Thr154fs	coding	Pathogenic
2	240871444	CC	GA	C240871444G	AGXT	NM_000030.3(AGXT):c.519_520delinsGA:p.Cys173_His174delinsTrpAsn	coding	Pathogenic
2	240873011	CATCCC	ATCGGT	C240873011A	AGXT	NM_000030.3(AGXT):c.557_562delinsATCGGT:p.Ala186_Ser187delinsAspArg	coding	Pathogenic
2	240873021	CG	C	G240873024A	AGXT	NM_000030.3(AGXT):c.570del:p.Thr191fs	coding	Pathogenic
2	240873025	AC	A	C240873031T	AGXT	NM_000030.3(AGXT):c.577del:p.Leu193fs	coding	Pathogenic/Likely_pathogenic
2	240874023	CTCCA	C	T240874024G	AGXT	NM_000030.3(AGXT):c.642_645del:p.Pro215fs	coding	Pathogenic
2	240874041	TCTC	T	C240874044T	AGXT	NM_000030.3(AGXT):c.662_664del:p.Ser221del	coding	Pathogenic
2	240874060	CAAGT	C	A240874061G	AGXT	NM_000030.3(AGXT):c.679_680+2del	coding	Pathogenic
2	240874542	CCTGGCAACTGGAGGTGCCGTTCCCCAGAACAGAGAGGACTTCGGGGAGAAGTCAGGAATTCGGTGTTGGACGTGGGAGGTCTGAGATGCCAGCTGGACCACACGGGAGGGTGAAGGAAGCGGCTGGGTGTGAGTCAGGAGCCTGGGGAGAGGCCGGGGCTGGCCCCTCCATCTGGAGTTGTAGAGACGGACACATTTAAAGTTTCAAGCCTGGCCAGTGTCCCCTGGGGCCCGAAAGCAGTCACCTTTGGGTGATGTGAGAAATGAAGGCTGACCCTGTAGGAGGGGCTGGGGGAGAGAAAGGGGCACACAGAGTGGAGGGAGCTGGCCTTGGTGCCCCCATGGCAGGGTCACACAGCTGGGCCCAAGGGCCAGCGGGACTGGACAGCTGAGGGACCCACGACCCACCCGGTCCCACTCTGGCCCCTGAGCACAAATGCAGCTGGGGCGGGCCCTCCTGGGGGCCCCACCCCGTCTCACTCCCGTGAAACAGGACAGCCAGCGAGACTGCCCTGGCCTTCAGCCCAAACTGAGAGGCTGGTGCTCAGCCTGCTTCTTTCTCCCCAGAAAGAAGATGTACTCCCGCAAGACGAAGCCCTTCTCCTTCTACCTGGACATCAAGTGGCTGGCCAACTTCTGGGGCTGTGACGACCAGCCCAGGATGTGAGGCCTGGCAGGGATGGGAAGGTGGAGGGCGCTGGGCATGGCTGAGAGGTGGGGCGCTGGCCTCTC	TGAGA	C240874542T	AGXT	NM_000030.3(AGXT):c.680+480_776+69delinsTGAGA	noncoding	Pathogenic
2	240875152	C	CT	G240875154T	AGXT	NM_000030.3(AGXT):c.725dup:p.Asp243fs	coding	Pathogenic
2	240875170	GC	G	C240875172A	AGXT	NM_000030.3(AGXT):c.744del:p.Asn249fs	coding	Pathogenic
2	240875179	TG	AA	T240875179A	AGXT	NM_000030.3(AGXT):c.751_752delinsAA:p.Trp251Lys	coding	Pathogenic
2	240875956	CATCA	ACAATCTCAG	C240875956A	AGXT	NM_000030.3(AGXT):c.798_802delinsACAATCTCAG:p.Ile267fs	coding	Pathogenic
2	240875973	T	TGA	C240875983A	AGXT	NM_000030.3(AGXT):c.817_818AG[5]:p.Ser275fs	coding	Pathogenic
2	240875991	TC	T	C240875992A	AGXT	NM_000030.3(AGXT):c.834del:p.Ile279fs	coding	Pathogenic
2	240876649	GCTTCCCATGAGGTTGCAAGGCCGTGCCTGCCACGTTTGTCCTCCTGGGTCCACTCATAAAGCCACTGCCTAGGGCTGGGTTAGTGCCAGGGTGCCCCTGTAAGCTAAATGCCACCCGCACCCGCGGGGGAAGGCGAGGGGTCAGGCGCTCACACAGGGAAAGGCTCTAGGGTCGTAAAGGTGGGTGGGGGGTGTGAGCTGGGCAGAGAAGGAAGAGAACAGGACCAGACAGCAGGGCACAGTCAAGGGCAGAGGCACAGGGACCTGGCAGAGTGCAGATTGCAGGGGCACATGCGCAGAGAAGACGGGCCAGGGCCAGAGTAGAGAGCAGCTGCTGCTCCGGGGACCCACCTGGGGTGGCCATGAGAGCTGGTGGCTGGAGGCCGGGAGGACCCGTGACCAGAGGTAATGGCACTGAGGGGCCCAGGGCTGGAGAGACCACCCCTCACCTGTCCAGAGCTGAGGCAGGAGCAGTGCTGCGGAGGATGCCAGGTCGGGGGAGCTGGCCCTGAGAGGAGAGGGGGCCTGGGAGCCAGCACCCTGAGCCCTGGCCCTGATCCACTCCAGCCCTGTGTAGCCCAACAGCCCTTCCCCTCCTTGCCCAGTCCCCTCCCCCTGCAAGGCACTCTCCACTCTTCTCCCCCAGGGGCCACAGGCAGACCTCCCCTCTGTCTCTCTGAACCCTCCTCTGTCTCTCCCAGACCCAGATGTTTCCTTCTGCCCTGGGGTAGTCCCAGGCCCTGCCCCAGGCAAAGTCAAACTGGGGGCTCCAGGGGCTCCCCTGCACCAAGGCCTGCAGAGTCAGGTTCTTCCTCCCGCACCACAGAGGGCGGGGCTTCCTGCCCACCCCACCCATGTCACTGCCCACCAGCGCCATCTCCCACACAGGGCCTGGAGAACAGCTGGCGCCAGCACCGCGAGGCCGCGGCGTATCTGCATGGGCGCCTGCAGGCACTGGGGCTGCAGCTCTTCGTGAAGGACCCGGTAAGGAGGCCCCTGGCATTGGGCAGCCCTGCACCCATGGGGAAGGATGAGGGGCTCTTGCCCAGCCCCCTCAAGAGGGACACTGGCTCCTGAGAAGGAGGGGGCGGCTGCCCGGTGGTGTGGCCTCGGTGCCAGGGAT	G	C240876650T	AGXT	NM_000030.3(AGXT):c.846+646_942+139del	noncoding	Pathogenic
2	240877550	GC	CG	G240877550C	AGXT	NM_000030.3(AGXT):c.860_861delinsCG:p.Ser287Thr	coding	Pathogenic
2	240877572	CGCG	C	G240877576T	AGXT	NM_000030.3(AGXT):c.883_885GCG[1]:p.Ala296del	coding	Pathogenic
2	240877608	GC	G	C240877609T	AGXT	NM_000030.3(AGXT):c.919del:p.Leu307fs	coding	Pathogenic
2	240878035	CCA	C	C240878038G	AGXT	NM_000030.3(AGXT):c.957_958CA[1]:p.Thr320fs	coding	Pathogenic
2	240878047	CTG	C	T240878050G	AGXT	NM_000030.3(AGXT):c.969_970TG[1]:p.Val324fs	coding	Pathogenic
2	240878050	TG	T	G240878052C	AGXT	NM_000030.3(AGXT):c.973del:p.Ala325fs	coding	Pathogenic
2	240878061	GCTGGCT	G	C240878062A	AGXT	NM_000030.3(AGXT):c.983_988del:p.Ala328_Tyr330delinsAsp	coding	Pathogenic
2	240878749	CCG	C	C240878752A	AGXT	NM_000030.3(AGXT):c.1108_1109CG[1]:p.Asn372fs	coding	Pathogenic
2	240878764	CCG	C	C240878767T	AGXT	NM_000030.3(AGXT):c.1123_1124CG[1]:p.Val376fs	coding	Pathogenic
2	241741064	G	GTC	G241741067T	D2HGDH	NM_152783.5(D2HGDH):c.325_326dup:p.Glu110fs	coding	Pathogenic
2	241743771	CT	C	T241743773C	D2HGDH	NM_152783.5(D2HGDH):c.642del:p.Arg215fs	coding	Pathogenic
2	241751273	CT	C	T241751275C	D2HGDH	NM_152783.5(D2HGDH):c.1027del:p.Ser343fs	coding	Pathogenic
3	390822	TATC	T	C390828G	CHL1	NM_006614.4(CHL1):c.2586+12_2586+14del	noncoding	Benign
3	1297996	GGTTTTT	G	T1298014C	CNTN6	NM_001289080.2(CNTN6):c.761+6GTTTTT[2]	noncoding	Benign
3	3129107	CC	GT	C3129107G	TRNT1	NM_182916.3(TRNT1):c.67_68delinsGT:p.Pro23Val	coding	Benign
3	3129165	CAGA	C	A3129168G	TRNT1	NM_182916.3(TRNT1):c.128_130del:p.Glu43del	coding	Pathogenic
3	3137432	GCACGGAA	G	C3137435A	TRNT1	NM_182916.3(TRNT1):c.324_330del:p.His108fs	coding	Pathogenic
3	3140295	T	TA	T3140296A	TRNT1	NM_182916.3(TRNT1):c.343-215_343-214insA	noncoding	Benign
3	3144600	A	AT	G3144604T	TRNT1	NM_182916.3(TRNT1):c.501dup:p.Asp168Ter	coding	Pathogenic
3	3146547	G	GA	T3146555A	TRNT1	NM_182916.3(TRNT1):c.733dup:p.Ile245fs	coding	Pathogenic
3	3147456	C	CTAAACT	G3147458A	TRNT1	NM_182916.3(TRNT1):c.810_811insAAACTT:p.Ala271_Asn272insLysLeu	coding	Benign
3	3147507	GT	G	T3147512C	TRNT1	NM_182916.3(TRNT1):c.865del:p.Ser289fs	coding	Pathogenic
3	3147656	AC	A	C3147657A	TRNT1	NM_182916.3(TRNT1):c.1010del:p.Thr337fs	coding	Pathogenic
3	3147665	TC	T	C3147666A	TRNT1	NM_182916.3(TRNT1):c.1019del:p.Ser339_Ser340insTer	coding	Pathogenic
3	3147683	T	TATCA	G3147689T	TRNT1	NM_182916.3(TRNT1):c.1038_1041dup:p.Asp348fs	coding	Pathogenic
3	3147991	G	GATGT	G3147992A	TRNT1	NM_182916.3(TRNT1):c.1142_1143insATGT:p.Trp381Ter	coding	Pathogenic
3	3148094	GA	G	A3148101G	TRNT1	NM_182916.3(TRNT1):c.1252del:p.Ser418fs	coding	Pathogenic
3	3148094	G	GA	G3148102A	TRNT1	NM_182916.3(TRNT1):c.1252dup:p.Ser418fs	coding	Pathogenic/Likely_pathogenic
3	3154774	C	CT	A3154779T	CRBN	NM_016302.4(CRBN):c.807dup:p.Asp270fs	coding	Pathogenic
3	4361680	TCTCA	T	C4361683A	SUMF1	NM_182760.4(SUMF1):c.*460_*463del	noncoding	Benign
3	4362133	TT	AC	T4362133A	SUMF1	NM_182760.4(SUMF1):c.*10_*11delinsGT	noncoding	Benign
3	4418073	GC	G	C4418076A	SUMF1	NM_182760.4(SUMF1):c.661del:p.Ala221fs	coding	Pathogenic
3	4449257	ATTAC	A	T4449263G	SUMF1	NM_182760.4(SUMF1):c.519+5_519+8del	noncoding	Pathogenic
3	4452980	C	CT	C4452983T	SUMF1	NM_182760.4(SUMF1):c.339dup:p.Ala114fs	coding	Pathogenic
3	4627876	CACGT	C	C4627882T	ITPR1	NM_002222.6(ITPR1):c.279+4_279+7del	coding	Pathogenic
3	4680564	T	TTATA	G4680565T	ITPR1	NM_001099952.3(ITPR1):c.2952_2953insTATA:p.Val985fs	coding	Pathogenic
3	4697315	GGT	G	G4697352A	ITPR1	NM_001378452.1(ITPR1):c.4407+44GT[18]	noncoding	Benign
3	4815176	CAGA	C	A4815182G	ITPR1	NM_002222.6(ITPR1):c.7639_7641AAG[1]:p.Lys2548del	coding	Pathogenic
3	8745575	AC	A	C8745576G	CAV3	NM_033337.3(CAV3):c.165del:p.Asp55fs	coding	Pathogenic
3	8745596	ACACCACCTT	A	C8745600T	CAV3	NM_033337.2(CAV3):c.189_197delCACCTTCAC:p.Thr64_Thr66del	coding	Pathogenic
3	9434834	A	AG	A9434840G	SETD5	NM_001080517.3(SETD5):c.345dup:p.Lys116fs	coding	Pathogenic
3	9435881	CAGCACCAAAGACGAAGAAAATCAAGGTATGCAGGGTAAAAATATCTTAAATAGAAATTGTCTGAAATAGCTTAAATTTTGG	C	C9435886A	SETD5	NM_001080517.3(SETD5):c.547_567+60del	coding	Pathogenic
3	9440535	AG	A	G9440536T	SETD5	NM_001080517.3(SETD5):c.648del:p.Gln216fs	coding	Pathogenic
3	9440557	TC	T	C9440558A	SETD5	NM_001080517.3(SETD5):c.670del:p.Gln224fs	coding	Pathogenic
3	9441600	TG	T	G9441603A	SETD5	NM_001080517.3(SETD5):c.821del:p.Gly274fs	coding	Pathogenic
3	9441654	AT	A	T9441657G	SETD5	NM_001080517.3(SETD5):c.875del:p.Leu292fs	coding	Pathogenic
3	9441684	A	ATCGTGGGAAAG	A9441698G	SETD5	NM_001080517.3(SETD5):c.905_915dup:p.Met306fs	coding	Pathogenic
3	9441736	CA	C	A9441741G	SETD5	NM_001080517.3(SETD5):c.960del:p.Lys320fs	coding	Pathogenic
3	9443316	CAT	C	A9443317G	SETD5	NM_001080517.3(SETD5):c.1087_1088del:p.Met363fs	coding	Pathogenic
3	9443354	C	CT	G9443356T	SETD5	NM_001080517.3(SETD5):c.1125dup:p.Val376fs	coding	Pathogenic
3	9447087	CT	C	T9447091G	SETD5	NM_001080517.3(SETD5):c.1566del:p.Phe522fs	coding	Pathogenic
3	9447097	CTT	C	T9447098A	SETD5	NM_001080517.3(SETD5):c.1573_1574del:p.Leu525fs	coding	Pathogenic
3	9447147	C	CT	G9447149T	SETD5	NM_001080517.3(SETD5):c.1623dup:p.Asp542Ter	coding	Pathogenic
3	9447241	A	AC	A9447242C	SETD5	NM_001080517.3(SETD5):c.1716_1717insC:p.Asn573fs	coding	Pathogenic
3	9447263	CCA	C	C9447266G	SETD5	NM_001080517.3(SETD5):c.1739_1740CA[1]:p.Gln581fs	coding	Pathogenic
3	9447266	CAG	C	A9447269T	SETD5	NM_001080517.3(SETD5):c.1744_1745del:p.Ser582fs	coding	Pathogenic
3	9447703	AC	A	C9447704T	SETD5	NM_001080517.3(SETD5):c.1801del:p.Lys600_Leu601insTer	coding	Pathogenic
3	9447796	G	GA	C9447797A	SETD5	NM_001080517.3(SETD5):c.1893_1894insA:p.Arg632fs	coding	Pathogenic
3	9447801	AGAAG	A	G9447802C	SETD5	NM_001080517.3(SETD5):c.1899_1902del:p.Gln633fs	coding	Pathogenic
3	9447895	TC	T	C9447896T	SETD5	NM_001080517.3(SETD5):c.1993del:p.Ser664_Leu665insTer	coding	Pathogenic
3	9447976	TG	T	G9447977C	SETD5	NM_001080517.3(SETD5):c.2074del:p.Ala692fs	coding	Pathogenic
3	9447998	A	AC	A9448001C	SETD5	NM_001080517.3(SETD5):c.2097dup:p.Lys700fs	coding	Pathogenic
3	9448000	CA	C	A9448005G	SETD5	NM_001080517.3(SETD5):c.2102del:p.Lys701fs	coding	Pathogenic
3	9448396	T	TA	C9448398A	SETD5	NM_001080517.3(SETD5):c.2113dup:p.Thr705fs	coding	Pathogenic
3	9448437	CT	C	T9448438G	SETD5	NM_001080517.3(SETD5):c.2154del:p.Val719fs	coding	Pathogenic
3	9448449	C	CT	A9448453T	SETD5	NM_001080517.3(SETD5):c.2168dup:p.Leu723fs	coding	Pathogenic
3	9448458	TCA	T	C9448461A	SETD5	NM_001080517.3(SETD5):c.2175_2176CA[1]:p.Thr726fs	coding	Pathogenic
3	9448499	TTA	T	T9448500C	SETD5	NM_001080517.3(SETD5):c.2216_2217del:p.Leu739fs	coding	Pathogenic
3	9448550	AT	A	T9448552C	SETD5	NM_001080517.3(SETD5):c.2268del:p.Arg757fs	coding	Pathogenic
3	9448623	G	GT	A9448625T	SETD5	NM_001080517.3(SETD5):c.2340dup:p.Lys781Ter	coding	Pathogenic
3	9453775	C	CA	C9453779A	SETD5	NM_001080517.3(SETD5):c.2386dup:p.Thr796fs	coding	Pathogenic
3	9453779	CAT	C	A9453780C	SETD5	NM_001080517.3(SETD5):c.2388_2389del:p.Ser797fs	coding	Pathogenic
3	9464455	C	CT	C9464457T	SETD5	NM_001080517.3(SETD5):c.2508dup:p.Arg837fs	coding	Pathogenic
3	9470487	C	CA	G9470492A	SETD5	NM_001080517.3(SETD5):c.2757dup:p.Val920fs	coding	Pathogenic
3	9470541	TAC	AA	T9470541A	SETD5	NM_001080517.3(SETD5):c.2807_2809delinsAA:p.Leu936fs	coding	Pathogenic
3	9470642	G	GT	G9470644T	SETD5	NM_001080517.3(SETD5):c.2909dup:p.Arg971fs	coding	Pathogenic
3	9470749	AG	A	G9470750T	SETD5	NM_001080517.3(SETD5):c.3016del:p.Val1006fs	coding	Pathogenic
3	9470900	G	GC	A9470907C	SETD5	NM_001080517.3(SETD5):c.3172dup:p.Gln1058fs	coding	Pathogenic
3	9473285	CT	C	T9473286G	SETD5	NM_001080517.3(SETD5):c.3246del:p.Ala1083fs	coding	Pathogenic
3	9473303	ACT	A	C9473306G	SETD5	NM_001080517.3(SETD5):c.3264_3265CT[1]:p.Ser1089fs	coding	Pathogenic
3	9475532	A	AG	A9475534G	SETD5	NM_001080517.3(SETD5):c.3771dup:p.Ser1258fs	coding	Pathogenic
3	9475540	T	TC	T9475546C	SETD5	NM_001080517.3(SETD5):c.3783dup:p.Phe1262fs	coding	Pathogenic
3	9475616	CCT	C	T9475620A	SETD5	NM_001080517.3(SETD5):c.3856_3857TC[1]:p.His1287fs	coding	Pathogenic
3	9734166	CTT	C	T9734168C	BRPF1	NM_001003694.2(BRPF1):c.28_29del:p.Phe10fs	coding	Pathogenic
3	9734243	T	TA	C9734245A	BRPF1	NM_001003694.2(BRPF1):c.104dup:p.Tyr35Ter	coding	Pathogenic
3	9734499	CAG	C	A9734502G	BRPF1	NM_001003694.2(BRPF1):c.360_361AG[1]:p.Glu121fs	coding	Pathogenic
3	9734698	GGACACCCCTGAT	AGGTAGAGGTG	G9734698A	BRPF1	NM_001003694.2(BRPF1):c.558_570delinsAGGTAGAGGTG:p.Asp187fs	coding	Pathogenic
3	9734706	CT	C	T9734707G	BRPF1	NM_001003694.2(BRPF1):c.567del:p.Asp190fs	coding	Pathogenic
3	9739314	CG	C	G9739316T	BRPF1	NM_001003694.2(BRPF1):c.917del:p.Gly306fs	coding	Pathogenic
3	9739448	ATG	A	T9739451G	BRPF1	NM_001003694.2(BRPF1):c.1050_1051TG[1]:p.Val351fs	coding	Pathogenic
3	9739499	TC	T	C9739501T	BRPF1	NM_001003694.2(BRPF1):c.1102del:p.Phe367_Leu368insTer	coding	Pathogenic
3	9739580	CAG	C	A9739581G	BRPF1	NM_001003694.2(BRPF1):c.1182_1183del:p.Ala396fs	coding	Pathogenic
3	9739698	CA	C	A9739699C	BRPF1	NM_001003694.2(BRPF1):c.1300del:p.Thr434fs	coding	Pathogenic
3	9739711	GT	G	T9739712C	BRPF1	NM_001003694.2(BRPF1):c.1313del:p.Val438fs	coding	Pathogenic
3	9739811	AG	A	G9739813A	BRPF1	NM_001003694.2(BRPF1):c.1414del:p.Glu472fs	coding	Pathogenic
3	9739938	G	GC	T9739942C	BRPF1	NM_001003694.2(BRPF1):c.1542dup:p.Cys515fs	coding	Pathogenic
3	9743248	AAG	A	G9743250T	BRPF1	NM_001003694.2(BRPF1):c.2308_2309del:p.Asp770fs	coding	Pathogenic
3	9743723	GAA	G	A9743725G	BRPF1	NM_001003694.2(BRPF1):c.2459_2460del:p.Lys820fs	coding	Pathogenic
3	9743857	CAGAT	C	A9743860T	BRPF1	NM_001003694.2(BRPF1):c.2594_2597del:p.Asp865fs	coding	Pathogenic
3	9744393	G	GC	A9744401C	BRPF1	NM_001003694.2(BRPF1):c.2812dup:p.Gln938fs	coding	Pathogenic
3	9745104	ACT	A	C9745107G	BRPF1	NM_001003694.2(BRPF1):c.3020_3021del:p.Asp1006_Ser1007insTer	coding	Pathogenic
3	9890751	CCGGCACCGA	C	C9890757G	JAGN1	NM_032492.4(JAGN1):c.35_43del:p.Thr12_Gly14del	coding	Pathogenic
3	9917537	G	GTCTGGTCTT	G9917544C	IL17RC	NM_153460.4(IL17RC):c.105+123_105+124insCTTTCTGGT	coding	Benign
3	9921083	TATTC	T	C9921107T	IL17RC	NM_153460.4(IL17RC):c.622+115ATTC[5]	noncoding	Benign
3	10032956	GAGTC	G	T10032959A	FANCD2	NM_001018115.3(FANCD2):c.192_195del:p.Ser64fs	coding	Pathogenic
3	10035158	CTT	C	T10035167A	FANCD2	NM_033084.5(FANCD2):c.378-6_378-5del	noncoding	Benign/Likely_benign
3	10039339	C	CA	G10039341A	FANCD2	NM_033084.5(FANCD2):c.553dup:p.Arg185fs	coding	Pathogenic
3	10042584	TGTC	T	G10042588T	FANCD2	NM_001018115.3(FANCD2):c.810GTC[1]:p.Ser272del	coding	Pathogenic
3	10043571	C	CTGGA	A10043572T	FANCD2	NM_001018115.3(FANCD2):c.1077_1078insTGGA:p.Ile360fs	coding	Pathogenic
3	10046645	CA	C	A10046646G	FANCD2	NM_033084.5(FANCD2):c.1201del:p.Arg401fs	coding	Pathogenic
3	10046725	TAAG	T	A10046726T	FANCD2	NM_033084.5(FANCD2):c.1278+3_1278+5del	noncoding	Benign
3	10047956	CAG	C	A10047959T	FANCD2	NM_001018115.3(FANCD2):c.1321_1322del:p.Ser441fs	coding	Pathogenic
3	10049301	TTGGGGGTGAATCCCTTTAGAATGGCCATCCATATTTTGTTTTACACTGTTCTGTTGACTCTCCCCTGTATAGGAAGTGGTTGGTGCCTTAGTGACCCATATCTGCAGTGGGAATGAAGCTGAAGTTGATACTGCCTTAGATGTCCTTCTAGAGTTGGTAGTGTTAAACCCATCTGCTATGATGATGAATGCTGTCTTTGTAAAGGTATCTTATTGGCTTCTTGTACTTTAGATATTGAATACTATAATTGGTGGGAGGTGGTGGGAAGGAGGTGAGATGATGGGCAAGTAATATAAATAAAAAGTGACTATTCTATCTATGTGTTAATTCATTCAGCAAACACTTCTTTATACCTAACCTACAGGCTAATCTCTATTCTGGGTGCTGTGAATGTAAAGTAGGCCCTTACCTTTCATGTTAAAGACTAAGACACATAAGCAAGTCACTATAAATACAACA	T	G10049305T	FANCD2	NM_001018115.3(FANCD2):c.1414-69_1545+258del	noncoding	Pathogenic
3	10049408	GT	G	T10049409G	FANCD2	NM_001018115.3(FANCD2):c.1449del:p.Ser483fs	coding	Pathogenic
3	10073306	GA	G	A10073308G	FANCD2	NM_001018115.3(FANCD2):c.2661del:p.Glu888fs	coding	Pathogenic
3	10074589	CC	TT	C10074589T	FANCD2	NM_001018115.3(FANCD2):c.2775_2776delinsTT:p.Arg926Ter	coding	Pathogenic
3	10074648	T	TC	T10074650C	FANCD2	NM_001018115.3(FANCD2):c.2835dup:p.Asp947fs	coding	Pathogenic
3	10078133	ATC	A	T10078138C	FANCD2	NM_001018115.3(FANCD2):c.2917_2918del:p.Ser973fs	coding	Pathogenic
3	10087248	GAACA	G	C10087251G	FANCD2	NM_001018115.3(FANCD2):c.3453_3456del:p.Asn1151fs	coding	Pathogenic
3	10088865	AT	A	T10088866A	FANCD2	NM_001018115.3(FANCD2):c.3599del:p.Ile1200fs	coding	Pathogenic
3	10090443	ATTTT	A	T10090468C	FANCD2	NM_001018115.3(FANCD2):c.3777+83_3777+86del	noncoding	Benign
3	10142008	TG	T	G10142010A	VHL	NM_000551.3(VHL):c.163del:p.Glu55fs	coding	Pathogenic
3	10142008	T	TG	A10142011G	VHL	NM_000551.3(VHL):c.163dup:p.Glu55fs	coding	Pathogenic
3	10142008	T	TGGAGGCCG	C10142019A	VHL	NM_198156.3(VHL):c.164_171dup:p.Arg60fs	coding	Pathogenic
3	10142022	CCGCGGCCCGTGCTG	C	G10142026T	VHL	NM_000551.3(VHL):c.179_192del:p.Arg60fs	coding	Pathogenic/Likely_pathogenic
3	10142025	CG	C	G10142027C	VHL	NM_000551.3(VHL):c.180del:p.Val62fs	coding	Pathogenic
3	10142035	TGCGC	T	G10142036T	VHL	NM_000551.3(VHL):c.189_192del:p.Arg64_Ser65insTer	coding	Pathogenic
3	10142038	GC	G	C10142039T	VHL	NM_000551.3(VHL):c.192del:p.Ser65fs	coding	Pathogenic/Likely_pathogenic
3	10142052	C	CG	C10142054G	VHL	NM_000551.3(VHL):c.206dup:p.Glu70fs	coding	Pathogenic
3	10142065	AGG	A	G10142066T	VHL	NM_000551.3(VHL):c.219_220del:p.Gln73fs	coding	Pathogenic
3	10142067	GTCA	G	A10142070T	VHL	NM_198156.3(VHL):c.223_225del:p.Ile75del	coding	Pathogenic
3	10142067	GT	G	T10142068C	VHL	NM_000551.3(VHL):c.221del:p.Val74fs	coding	Pathogenic
3	10142070	ATCT	A	T10142074G	VHL	NM_000551.4(VHL):c.224_226TCT[1]:p.Phe76del	coding	Pathogenic
3	10142072	CTT	C	T10142073C	VHL	NM_000551.3(VHL):c.226_227del:p.Phe76fs	coding	Pathogenic
3	10142078	CA	C	A10142080T	VHL	NM_000551.4(VHL):c.233del:p.Asn78fs	coding	Pathogenic
3	10142084	CAGTCCGCGCGTCGTGCTGCCCGT	C	G10142086T	VHL	NM_000551.3(VHL):c.239_261del:p.Ser80fs	coding	Pathogenic
3	10142102	GC	G	C10142105G	VHL	NM_000551.3(VHL):c.258del:p.Val87fs	coding	Pathogenic
3	10142102	G	GC	G10142106C	VHL	NM_000551.4(VHL):c.258dup:p.Val87fs	coding	Pathogenic
3	10142110	G	GGCTC	A10142115G	VHL	NM_000551.4(VHL):c.264_267dup:p.Asn90fs	coding	Pathogenic
3	10142114	CA	C	A10142116C	VHL	NM_000551.3(VHL):c.269del:p.Asn90fs	coding	Pathogenic
3	10142123	CG	C	G10142125C	VHL	NM_000551.3(VHL):c.278del:p.Gly93fs	coding	Pathogenic
3	10142136	CCCTA	C	T10142139C	VHL	NM_000551.4(VHL):c.292_295del:p.Tyr98fs	coding	Pathogenic
3	10142137	CCTACCCAACGCT	C	C10142138G	VHL	NM_000551.3(VHL):c.291_302del:p.Tyr98_Leu101del	coding	Pathogenic
3	10142139	T	TA	C10142141A	VHL	NM_000551.3(VHL):c.293dup:p.Tyr98Ter	coding	Pathogenic
3	10142140	A	AC	A10142144C	VHL	NM_000551.3(VHL):c.296dup:p.Thr100fs	coding	Pathogenic
3	10142146	C	CG	C10142148G	VHL	NM_000551.3(VHL):c.300dup:p.Leu101fs	coding	Pathogenic
3	10142150	G	GCC	G10142153C	VHL	NM_000551.3(VHL):c.304_305dup:p.Pro103fs	coding	Pathogenic
3	10142155	C	CT	G10142157T	VHL	NM_000551.3(VHL):c.309dup:p.Gly104fs	coding	Pathogenic
3	10142155	CT	C	T10142156G	VHL	NM_000551.3(VHL):c.309del:p.Gly104fs	coding	Pathogenic
3	10142175	CA	C	A10142176C	VHL	NM_000551.3(VHL):c.329del:p.His110fs	coding	Pathogenic
3	10142181	TACCGAGGTACG	T	A10142182G	VHL	NM_000551.3(VHL):c.335_340+5del	coding	Pathogenic
3	10142183	CCGAGGTA	C	A10142186G	VHL	NM_000551.3(VHL):c.339_340+5del	coding	Pathogenic
3	10142186	AGGTAC	A	T10142189G	VHL	NM_000551.3(VHL):c.340+2_340+6del	coding	Pathogenic
3	10146512	AG	A	G10146514T	VHL	NM_000551.3(VHL):c.341delG	noncoding	Pathogenic
3	10146517	A	AC	T10146520C	VHL	NM_000551.4(VHL):c.346dup:p.Leu116fs	coding	Pathogenic
3	10146522	TG	T	G10146524C	VHL	NM_198156.3(VHL):c.341-3263del	coding	Pathogenic
3	10146525	C	CA	T10146526A	VHL	NM_000551.3(VHL):c.352_353insA:p.Leu118fs	coding	Pathogenic
3	10146530	CA	C	A10146531G	VHL	NM_198156.3(VHL):c.341-3256del	coding	Pathogenic
3	10146535	A	AT	G10146537T	VHL	NM_000551.4(VHL):c.363dup:p.Ala122fs	coding	Pathogenic
3	10146542	GAC	G	A10146547G	VHL	NM_198156.3(VHL):c.341-3244AC[2]	coding	Pathogenic
3	10146549	GA	G	A10146550T	VHL	NM_198156.3(VHL):c.341-3237del	coding	Pathogenic
3	10146549	GATGGGC	AA	G10146549A	VHL	NM_000551.4(VHL):c.376_382delinsAA:p.Asp126fs	coding	Pathogenic
3	10146551	TG	T	G10146554C	VHL	NM_000551.4(VHL):c.381del:p.Leu128fs	coding	Pathogenic
3	10146559	TG	T	G10146561T	VHL	NM_198156.3(VHL):c.341-3226del	coding	Pathogenic
3	10146565	A	ACC	A10146568C	VHL	NM_198156.3(VHL):c.341-3221_341-3220dup	coding	Pathogenic
3	10146567	CA	C	A10146570C	VHL	NM_000551.4(VHL):c.397del:p.Thr133fs	coding	Pathogenic
3	10146573	GA	G	A10146575T	VHL	NM_198156.3(VHL):c.341-3212del	coding	Pathogenic
3	10146578	AT	A	T10146581G	VHL	NM_198156.3(VHL):c.341-3206del	coding	Pathogenic
3	10146584	GC	G	C10146586A	VHL	NM_000551.4(VHL):c.413del:p.Pro138fs	coding	Pathogenic
3	10146587	ATC	A	T10146592A	VHL	NM_198156.3(VHL):c.341-3199TC[2]	coding	Pathogenic
3	10146591	C	CA	T10146592A	VHL	NM_000551.3(VHL):c.418_419insA:p.Leu140fs	coding	Pathogenic
3	10146593	C	CA	T10146596A	VHL	NM_198156.3(VHL):c.341-3192dup	coding	Pathogenic
3	10146602	CG	C	G10146604A	VHL	NM_198156.3(VHL):c.341-3183del	coding	Pathogenic
3	10146604	GACAGCCT	G	C10146606T	VHL	NM_000551.4(VHL):c.433_439del:p.Gln145fs	coding	Pathogenic/Likely_pathogenic
3	10146607	AGC	A	G10146608C	VHL	NM_198156.3(VHL):c.341-3179_341-3178del	coding	Pathogenic
3	10146612	A	AT	G10146618T	VHL	NM_198156.3(VHL):c.341-3170dup	coding	Pathogenic
3	10146612	AT	A	T10146617G	VHL	NM_198156.3(VHL):c.341-3170del	coding	Pathogenic
3	10146617	T	TG	C10146619G	VHL	NM_000551.4(VHL):c.445dup:p.Ala149fs	coding	Pathogenic
3	10146620	CAA	C	A10146621T	VHL	NM_000551.4(VHL):c.448_449del:p.Asn150fs	coding	Pathogenic
3	10146620	CA	C	A10146622T	VHL	NM_198156.3(VHL):c.341-3165del	coding	Pathogenic
3	10146626	CACACTGCCAGGTACTGACGTTTTACTT	C	A10146627T	VHL	NM_000551.3(VHL):c.454_463+17del	coding	Pathogenic
3	10146634	CA	C	A10146635G	VHL	NM_000551.4(VHL):c.462del:p.Val155fs	coding	Pathogenic
3	10149797	GAA	C	G10149797C	VHL	NM_001354723.2(VHL):c.*28_*30delinsC	coding	Pathogenic
3	10149797	GA	G	A10149800G	VHL	NM_001354723.2(VHL):c.*31del	coding	Pathogenic
3	10149797	G	GA	G10149801A	VHL	NM_000551.4(VHL):c.477dup:p.Glu160fs	coding	Pathogenic
3	10149802	AGCGAT	A	G10149805C	VHL	NM_001354723.2(VHL):c.*36_*40del	coding	Pathogenic
3	10149824	G	GTTGTCCGT	A10149825T	VHL	NM_000551.3(VHL):c.501_502insTTGTCCGT:p.Ser168fs	coding	Pathogenic
3	10149826	G	GC	T10149829C	VHL	NM_000551.4(VHL):c.505dup:p.Leu169fs	coding	Pathogenic
3	10149848	CA	C	A10149849G	VHL	NM_000551.4(VHL):c.526del:p.Arg176fs	coding	Pathogenic
3	10149849	AGGAGACT	A	G10149853C	VHL	NM_001354723.2(VHL):c.*84_*90del	coding	Pathogenic
3	10149854	ACTGGACATCGT	TC	A10149854T	VHL	NM_001354723.2(VHL):c.*85_*96delinsTC	coding	Pathogenic/Likely_pathogenic
3	10149855	CTG	C	T10149856G	VHL	NM_000551.4(VHL):c.533_534del:p.Leu178fs	coding	Pathogenic
3	10149862	TCGTC	T	C10149863A	VHL	NM_001354723.2(VHL):c.*94_*97del	coding	Pathogenic
3	10149865	T	TC	A10149867C	VHL	NM_001354723.2(VHL):c.*97dup	coding	Pathogenic
3	10149906	CAG	C	G10149908A	VHL	NM_001354723.2(VHL):c.*139_*140del	coding	Pathogenic
3	10149934	AGC	A	G10149937A	VHL	NM_001354723.2(VHL):c.*166_*167GC[1]	coding	Pathogenic
3	10153609	T	TG	T10153610G	VHL	NM_000551.3(VHL):c.*3644_*3645insG	noncoding	Benign
3	11017234	TG	T	G11017236C	SLC6A1	NM_003042.4(SLC6A1):c.25del:p.Ala9fs	coding	Pathogenic
3	11017358	CCGCT	C	C11017359T	SLC6A1;SLC6A1-AS1	NM_003042.4(SLC6A1):c.148_151del:p.Arg50fs	coding	Pathogenic
3	11017406	CA	C	A11017408C	SLC6A1	NM_003042.4(SLC6A1):c.197del:p.Asn66fs	coding	Pathogenic
3	11017934	C	CG	C11017941G	SLC6A1	NM_003042.4(SLC6A1):c.336dup:p.Leu113fs	coding	Pathogenic
3	11020264	T	TA	C11020265A	SLC6A1	NM_003042.4(SLC6A1):c.523_524insA:p.Ser175fs	coding	Pathogenic
3	11022384	CCGCTGGCCACTGGCCATCA	C	C11022394T	SLC6A1	NM_003042.4(SLC6A1):c.640_658del:p.Leu214fs	coding	Pathogenic
3	11026351	CG	C	G11026353C	SLC6A1	NM_003042.4(SLC6A1):c.1072del:p.Ala358fs	coding	Pathogenic
3	11028856	G	GC	G11028865C	SLC6A1	NM_003042.4(SLC6A1):c.1191+17dup	noncoding	Benign
3	11029248	GC	G	C11029251T	SLC6A1	NM_003042.4(SLC6A1):c.1222del:p.Leu408fs	coding	Pathogenic
3	11029282	AC	A	C11029284G	SLC6A1	NM_003042.4(SLC6A1):c.1255del:p.Arg419fs	coding	Pathogenic
3	11031175	AG	A	G11031181T	SLC6A1	NM_003042.4(SLC6A1):c.1328del:p.Gly443Valfs	noncoding	Pathogenic
3	11031187	A	AT	G11031189T	SLC6A1	NM_003042.4(SLC6A1):c.1335dup:p.Val446fs	coding	Pathogenic
3	11031221	TGG	T	G11031222C	SLC6A1	NM_003042.4(SLC6A1):c.1369_1370del:p.Gly457fs	coding	Pathogenic
3	11036875	TG	T	G11036877T	SLC6A1	NM_003042.4(SLC6A1):c.1711del:p.Val571fs	coding	Pathogenic
3	12392682	CA	C	A12392689G	PPARG	NM_005037.5(PPARG):c.472del:p.Ser158fs	coding	Pathogenic
3	12416892	TCTTGA	T	C12416898A	PPARG	NM_001330615.1(PPARG):c.735+10817_735+10821del	coding	Pathogenic
3	12433985	AC	A	C12433988T	PPARG	NM_015869.4(PPARG):c.1361del:p.Pro454fs	coding	Pathogenic
3	12516658	GAAGGT	G	G12516662A	TSEN2	NM_025265.4(TSEN2):c.960+1_960+5del	coding	Pathogenic
3	12585110	GCA	G	C12585113G	RAF1	NM_001354689.3(RAF1):c.1728+10_1728+11del	noncoding	Benign/Likely_benign
3	12599669	AAAGGGAGGGCCCC	A	G12599673C	RAF1	NM_001354689.3(RAF1):c.1168+9_1168+21del	noncoding	Benign
3	12609348	T	TA	C12609357A	RAF1	NM_001354689.3(RAF1):c.321-21dup	noncoding	Benign/Likely_benign
3	12664121	ACT	A	T12664125G	RAF1	NM_002880.3(RAF1):c.-339_-338AG[1]	noncoding	Benign
3	14130816	TC	T	C14130819A	TMEM43	NM_024334.2(TMEM43):c.163-3del	noncoding	Benign
3	14142556	AAAAAC	A	C14142566A	XPC;TMEM43	NM_024334.2(TMEM43):c.*771_*775delCAAAA	noncoding	Benign/Likely_benign
3	14146988	GACACTTGGCCCTCCCTATGTGTTCAGCGCCAAATCAGACCCATGGCATTGCTCATGTGGACAGTAGAAACGGGGACACTGGGACAGGGCTTGGGGCAGAAGAGCCAGCTGAGGCCTCACTCCAGGGACACCTTTCCCAACAAGGTAAAAACAAGCGGCCTTAGAGACAGAAGACTGAGGTGTCCTAACACAAAGCTATCCCTGACTTGAGGCTGGGGCAGAATCTGGGCCAGGCCTTTCTGAGCTGCATCTCCAAGAAACTGACCCTGAGCTTGTCTTCTCTGCAAAGAACCTGCACTGACCTTGGGCCCGTAGCGACGCTTCAGCCTCTCCCTGATGAGCAGACCTTTGGCCAGCAACTTCCAGTTCCCTAGAGCCCGCTTCTCCTTTTTCTGCAGGCAAAAATGAAGTGGGAGAAAAGTGTTAAGCACTGACATTTTCAGGAAAAATATTAAGATGGAAACTGTGAATGTAAAGACAGATATATACACCACTTTAGAATATAGCCTCTCCTTCACACCAAGTCTCACTTCCAAAAAATTGATCTGATTTACAAAGTGATATACTATACCTGAAAGCCACAAAAACAGATAACTTTTTAATCGTTACTGACTCCAAAATCTTTAGTGGGTGAGGTCTTCCAGAACCTGGACACAGGCAATTCAAGACAGAGGCAGGTGTGGGCAGCAGGGGCAGTAGACCCCAGAGCCCGGACCCAGGCTCCTCAGGGACAGTGATAGTCTGCGGGGTGGGCAGGAGCCTGCTGTATTCAGTGCTCGCTCCCTCGGGTGCCTGCCATGATGTCAGAGAGGGCTGGGAAGAGCCTGGGAGCACACGGAGGCGGCCTGGGGAAGGAAGAGGCCACCCGCTGAGTGTTGCTTCCCGCTTCTGCTGTCCCTCAGTCCTGCATATGCGCTTACCTCCTTCTCCTTCCTTTCAATGACTGCCTGCTCATTTTCCCAGGCAGTCAGGAGCACGTCTTTGAATTCCTCGCAGACGATGTATCCATCAGTCCTGTGGGGACACAACGCGATGTCAA	G	A14146989C	XPC	NM_004628.5(XPC):c.2421-25_2604+301del	noncoding	Pathogenic
3	14148694	AG	A	G14148696A	XPC	NM_004628.5(XPC):c.2287del:p.Leu763fs	coding	Pathogenic
3	14148719	CG	C	G14148720T	XPC	NM_004628.5(XPC):c.2262del:p.Asn754fs	coding	Pathogenic
3	14148846	CCT	C	C14148849G	XPC	NM_004628.5(XPC):c.2214_2215AG[1]:p.Glu739fs	coding	Pathogenic
3	14148934	AAAGC	A	A14148935C	XPC	NM_004628.5(XPC):c.2126_2129del:p.Gly709fs	coding	Pathogenic
3	14148936	AG	A	G14148937C	XPC	NM_004628.5(XPC):c.2127del:p.Ser711fs	coding	Pathogenic
3	14158044	T	TGG	C14158048G	XPC	NM_004628.5(XPC):c.1837_1838dup:p.Phe614fs	coding	Pathogenic
3	14158238	GCA	G	C14158243G	XPC	NM_004628.5(XPC):c.1639_1640TG[2]:p.Val548fs	coding	Pathogenic
3	14158442	T	TGTGCCTCCTTTGTCCTCTGA	G14158444T	XPC	NM_004628.5(XPC):c.1440_1441insTCAGAGGACAAAGGAGGCAC:p.Lys481fs	coding	Pathogenic
3	14158461	C	CT	G14158463T	XPC	NM_004628.5(XPC):c.1421dup:p.Arg475fs	coding	Pathogenic/Likely_pathogenic
3	14158587	CTCTTTA	C	C14158589A	XPC	NM_004628.5(XPC):c.1290_1295del:p.Tyr430_Glu432delinsTer	coding	Pathogenic
3	14158589	CTT	C	T14158591A	XPC	NM_004628.5(XPC):c.1292_1293del:p.Lys431fs	coding	Pathogenic
3	14158778	CTT	C	T14158779G	XPC	NM_004628.5(XPC):c.1103_1104del:p.Gln368fs	coding	Pathogenic
3	14158881	AG	A	G14158883T	XPC	NM_004628.5(XPC):c.1001del:p.Pro334fs	coding	Pathogenic
3	14165516	C	CA	T14165518A	XPC	NM_004628.5(XPC):c.690dup:p.Ala231fs	coding	Pathogenic
3	14165536	CAG	C	G14165538T	XPC	NM_004628.5(XPC):c.669_670del:p.Ile223fs	coding	Pathogenic
3	14168267	T	TTG	C14168271G	XPC	NM_004628.5(XPC):c.524_525dup:p.Arg176fs	coding	Pathogenic
3	14168346	TTC	T	T14168351A	XPC	NM_004628.5(XPC):c.441_442GA[2]:p.Glu149fs	coding	Pathogenic
3	14168369	GCTCA	G	C14168372A	XPC	NM_004628.5(XPC):c.420_423del:p.Glu141fs	coding	Pathogenic
3	14170451	CCAAT	C	A14170454T	XPC	NM_004628.5(XPC):c.395_398del:p.Asp132fs	coding	Pathogenic
3	14170506	CCT	C	C14170511T	XPC	NM_004628.5(XPC):c.338_339AG[2]:p.Ala116fs	coding	Pathogenic
3	14173037	TG	T	G14173042T	XPC	NM_004628.5(XPC):c.128del:p.Pro43fs	coding	Pathogenic
3	15453901	T	TG	A15453903G	COLQ	NM_005677.4(COLQ):c.1225dup:p.His409fs	coding	Pathogenic
3	15453914	AG	A	G15453915T	COLQ	NM_005677.4(COLQ):c.1212del:p.Cys405fs	coding	Pathogenic
3	15456011	AG	A	G15456015T	COLQ	NM_005677.4(COLQ):c.1082del:p.Pro361fs	coding	Pathogenic
3	15458202	GA	G	A15458204C	COLQ	NM_005677.4(COLQ):c.937del:p.Ser313fs	coding	Pathogenic
3	15466366	C	CG	A15466369G	COLQ	NM_005677.4(COLQ):c.788dup:p.Pro265fs	coding	Pathogenic
3	15466385	G	GA	G15466388A	COLQ	NM_005677.4(COLQ):c.769dup:p.Ser257fs	coding	Pathogenic
3	15466653	T	TCTGTC	A15466656G	COLQ	NM_005677.4(COLQ):c.718-217_718-216insAGGAC	noncoding	Benign
3	15474239	TG	T	G15474242A	COLQ	NM_005677.4(COLQ):c.588del:p.Gly198fs	coding	Pathogenic
3	15489586	A	AG	C15489589G	COLQ	NM_005677.4(COLQ):c.157dup:p.Leu53fs	coding	Pathogenic
3	15521568	TAGAG	T	A15521571G	COLQ	NM_005677.4(COLQ):c.52_53CT[1]:p.Ile20fs	coding	Pathogenic
3	15521568	T	TA	G15521570A	COLQ	NM_005677.4(COLQ):c.57dup:p.Ile20fs	coding	Pathogenic
3	15521759	GTC	G	C15521761G	COLQ	NM_005677.3(COLQ):c.-136_-135delGA	noncoding	Benign
3	15601892	CA	C	A15601893G	BTD	NM_001370658.1(BTD):c.-18del	coding	Pathogenic
3	15635477	GCGGCTG	TCC	G15635477T	BTD	NM_001370658.1(BTD):c.38_44delinsTCC:p.Cys13fs	coding	Pathogenic
3	15635478	CGG	C	G15635479C	BTD	NM_001370658.1(BTD):c.40_41del:p.Gly14fs	coding	Pathogenic
3	15635481	CTG	C	G15635483T	BTD	NM_001370658.1(BTD):c.44_45del:p.Cys15fs	coding	Pathogenic
3	15635571	G	GCATC	T15635585A	BTD	NM_001370658.1(BTD):c.134_137ATCC[4]:p.Leu49fs	coding	Pathogenic/Likely_pathogenic
3	15635624	CCTTGGAGCT	C	T15635626A	BTD	NM_001370658.1(BTD):c.187_195del:p.Leu63_Leu65del	coding	Pathogenic
3	15635641	CA	C	A15635642G	BTD	NM_001370658.1(BTD):c.203del:p.Gln68fs	coding	Pathogenic
3	15635643	GA	G	A15635645C	BTD	NM_000060.2(BTD):c.266delA:p.Asn89Thrfs	coding	Pathogenic
3	15641918	T	TTA	G15641923T	BTD	NM_001370658.1(BTD):c.261_262TA[3]:p.Val89Ter	coding	Pathogenic
3	15641923	G	GT	G15641925T	BTD	NM_001370658.1(BTD):c.266dup:p.Phe90fs	coding	Pathogenic
3	15641939	GC	G	C15641940A	BTD	NM_001370658.1(BTD):c.282del:p.Ile95fs	coding	Pathogenic
3	15641990	TC	T	C15641991A	BTD	NM_001370658.1(BTD):c.333del:p.Phe111fs	coding	Pathogenic
3	15642000	TC	T	C15642004A	BTD	NM_001370658.1(BTD):c.346del:p.Gln116fs	coding	Pathogenic
3	15642004	C	CA	G15642006A	BTD	NM_000060.4(BTD):c.407dup:p.Val137Glyfs	coding	Pathogenic
3	15644345	CAG	C	A15644346G	BTD	NM_001370658.1(BTD):c.430_431del:p.Arg144fs	coding	Pathogenic
3	15644399	CA	C	A15644400G	BTD	NM_001370658.1(BTD):c.484del:p.Ser162fs	coding	Pathogenic
3	15644442	AC	A	C15644443A	BTD	NM_001370658.1(BTD):c.527del:p.Thr176fs	coding	Pathogenic/Likely_pathogenic
3	15644449	TC	T	C15644450G	BTD	NM_001370658.1(BTD):c.534del:p.Val179fs	coding	Pathogenic
3	15644485	AC	A	C15644487G	BTD	NM_001370658.1(BTD):c.571del:p.Arg191fs	coding	Pathogenic
3	15644547	AC	A	C15644549T	BTD	NM_001370658.1(BTD):c.633del:p.Phe212fs	coding	Pathogenic
3	15644711	GA	G	A15644714G	BTD	NM_001370658.1(BTD):c.798del:p.Ala267fs	coding	Pathogenic
3	15644788	GT	G	T15644789G	BTD	NM_001370658.1(BTD):c.873del:p.Ser291fs	coding	Pathogenic/Likely_pathogenic
3	15644904	GC	G	C15644905A	BTD	NM_001370658.1(BTD):c.989del:p.Ala330fs	coding	Pathogenic
3	15644907	AC	A	C15644908A	BTD	NM_000060.2(BTD):c.1052delC:p.Thr351Lysfs	coding	Pathogenic
3	15644951	G	GTC	A15644954T	BTD	NM_001370658.1(BTD):c.1036_1037dup:p.Gly347fs	coding	Pathogenic
3	15645044	TGA	T	G15645047T	BTD	NM_001370658.1(BTD):c.1131_1132del:p.Glu377fs	coding	Pathogenic
3	15645083	GGGAAAGGAAGGCTA	TTCCAATGGCC	G15645083T	BTD	NM_001370658.1(BTD):c.1167_1181delinsTTCCAATGGCC:p.Trp389fs	coding	Pathogenic/Likely_pathogenic
3	15645094	GC	G	C15645095T	BTD	NM_001370658.1(BTD):c.1179del:p.Tyr394fs	coding	Pathogenic
3	15645094	GCTATCTCCACGT	G	A15645097G	BTD	NM_001370658.1(BTD):c.1181_1192del:p.Tyr394_Val397del	coding	Pathogenic/Likely_pathogenic
3	15645118	G	GC	T15645121C	BTD	NM_001370658.1(BTD):c.1204dup:p.Leu402fs	coding	Pathogenic
3	15645207	GGC	G	G15645208A	BTD	NM_001370658.1(BTD):c.1292_1293del:p.Gly431fs	coding	Pathogenic/Likely_pathogenic
3	15645227	G	GT	G15645229T	BTD	NM_001370658.1(BTD):c.1312dup:p.Cys438fs	coding	Pathogenic
3	15645239	CA	C	A15645240G	BTD	NM_001370658.1(BTD):c.1324del:p.Arg442fs	coding	Pathogenic
3	15645264	A	AC	T15645267C	BTD	NM_001370658.1(BTD):c.1350dup:p.Cys451fs	coding	Pathogenic
3	15645313	TG	T	G15645314T	BTD	NM_001370658.1(BTD):c.1398del:p.Trp467fs	coding	Pathogenic
3	15645314	GT	G	T15645315G	BTD	NM_001370658.1(BTD):c.1399del:p.Trp467fs	coding	Pathogenic/Likely_pathogenic
3	15645333	TC	T	C15645335T	BTD	NM_001370658.1(BTD):c.1419del:p.Tyr474fs	coding	Pathogenic
3	15645346	C	CT	G15645350T	BTD	NM_001370658.1(BTD):c.1433dup:p.Leu478fs	coding	Pathogenic
3	15645362	AGGGAT	A	G15645364A	BTD	NM_001370658.1(BTD):c.1448_1452del:p.Gly483fs	coding	Pathogenic
3	15645470	C	CT	G15645473T	BTD	NM_001370658.1(BTD):c.1556dup:p.Leu519fs	coding	Pathogenic
3	23918664	GTGAGCTGTCTCGTATATAAAACAGGGTTTGTGATTTTTACTAATCTTGGTGAAGAGTAATTGCTTGAAAGACTTGTCTTTGTTACAAATGCGTGTGTATATACTGGAAGTACTTGTGGAACCTAAGCTTTAAAGCGGCAAGAATATGCAGAAGAGACCAAATGTGGCCTGCACAGCCTAAAATATATACTAAATATTTTTAAAGCTAAACGTTGCTGAGCTCTCAGTTGTATGGAAAAAGATAAGGTCCCCAAACCCTAAATTTTGTTACCCAGATATTAACATATTCCTGCCCTAGTCAGGAATGGAGTATTAAGAGGGAATGATGTGTTTCAGTCTATGTGTGTTGTTTTAGCAAGTCTACATTATCTCATTACACTTGTGATAGTCTAGGGAGAAATGCTTAGTAAATAACTTGAGTAGTAAAAGACTCTTGTCTGGTGGTGAACTAGAGTTGAGAATTAAAATTCTTTCTGACTTGCTGCTATAGGCAATGTGGGAGATTGACCTTGGGCCTTTTTTCCTATTCTAGGAGCGAGCTGGACGCCACTGTGGGGCTCTGAGAGTCCTGAATTCTTACTGGGTTGGTGAAGATTCCACATACAAATTTTTTGAGGTTATCCTCATTGATCCATTCCATAAAGCTATCAGAAGAAATCCTGACACCCAGTGGATCACCAAACCAGTCCACAAGCACAGGGAGATGCGTGGGCTGACATCTGCAGGCCGAAAGAGCCGTGGCCTTGGAAAGGGCCACAAGTTCCACCACACTATTGGTGGCTCTCGCCGGGCAGCTTGGAGAAGGCGCAATACTCTCCAGCTCCACCGTTACCGCTAATATAAGTAAAGTTTGTAAAATTCATACTTAATAAACAATTTAGGACAGTCATGTCTGCTTACAGGTGTTATTTGTCTGTTAAAACTAGTCTGCAGATGTTTCTTGAATGCTTTGTCAAATTAAGAAAGTTAAAGTGCAATAATGTTTGAAGACAATAAGTGGTGGTGTATCTTGTTTCTAATAAGATAAACTTTTTTGTCTTTGCTTTATCTTATTAGGGAGTTGTATGTCAGTGTATAAAACATACTGTGTGGTATAACAGGCTTAATAAATTCTTTAAAAGGAGAGAACTGAAACTAGCCCTGTAGATTTGTCTGGTGCATGTGATGAAACCTGCAGCTTTATCGGAGTGATGGCAATGCTCTGCTGGTTTATTTTCAAGTGGCTGCGTTTTTTTTAGTTTGGCAGGTGTAGACTTTTTAAGTTGGGCTTTAGAAAATCTGGGTTAGCCTGAAGAAAATTGCCTCAGCCTCCACAGTACCATTTTAAATTCACATAAAAGGTGAAAGCTCCTGGTTCAGTGCCATGGCTTCATGGCATTCAGTGATTAGTGGTAATGGTAAACACTGGTGTGTTTTGAAGTTGAATGTGCGATAAAATTATTAGCCTTAAGATTGGTAAGCTAGCAATGAATGCTAGGGTGGGAAGCTGGTGAGCCAGTGGCCATTAGATAAATACCTTTCAAGTGTGAGCTTAGACGTCAACCCTAAAATACTTAACCGTAATGCTAATTGTGATCATTATGAATCCCTTCAGTCACATTAGGGGGAAAGTAGTTGGCTATAAGTACGTCATTCTTAGTCCAGTCAGTCTTAAAAACATCTTGGGTTACCCACTCTGTCCACTCCCATAGGCTACAGAAAAAGTCACAAGCGCATGGTTTCCAACCATATGTGTTTTCTGCAGTTATTTCTCTTGTTCTGGCCAAACAACCCTAAAAATCCTTACCATTCCACAAAGTTGGACCATCACTTGTGCACCCACTTTGACTATGAGTATACCACCACATTGCATTTCTGTTTGCACCATGTCTTCCAGGAGACTAGACTACTGTTGTCCAGGGTCAATTTGAGTGTAAAGAAAATGTAGACAAGGAATTGCCCAATTTTAAATTCTGACTTTGCTGACTTAATTTAAATGCTCGTTCTGAACCAATTTTCTCCTATCTTCTCTAGGGGTTTCAAAAGACTCAGTTAATTGATTTCCAGGAAGTACTCATAGCAAGTTCATAAAAGTTCTTGAGACCTAAATTTCTTCACAAAAAAAGAAAAGATCTTAAGTCATACATTTTAATTGTGTAGAGGTTGTTCAACTGAAGGAATAAATGTCTATTAAACTAAAACAAATGGACCTTCTGTTATTTTTTGTCATCTTACAGTGCTAATGTACTTTAAAGCAAACCAAATGCCCTAACCAGCAAAAAGGCATCAAAATGTGATTATAGAAATAATATAATTTGAGATAGCATAAAATGTACTTATTCTCTCAGTTCTTTGATCATTGCATGAATTAGGTTTTTATCTAAAACTGTTCAGCTGGGTGTGGTGGCTCAGGCC	G	A23918667T	RPL15	NG_033850.2(RPL15):g.7123_9515del	noncoding	Pathogenic
3	24118973	GTTTTTT	G	T24118998G	THRB	NM_001354712.2(THRB):c.*3905_*3910del	noncoding	Benign
3	24120222	AG	A	G24120224T	THRB	NM_001354712.2(THRB):c.*2661del	noncoding	Benign
3	24122911	A	AG	A24122918G	THRB	NM_001354712.2(THRB):c.1358dup:p.Leu454fs	coding	Pathogenic
3	24122943	TC	AT	T24122943A	THRB	NM_001354712.2(THRB):c.1326_1327delinsAT:p.Met442_Lys443delinsIleTer	coding	Pathogenic
3	24122957	CG	C	G24122959C	THRB	NM_001354712.2(THRB):c.1312del:p.Arg438fs	coding	Pathogenic
3	24127630	CGTG	C	G24127631T	THRB	NM_001354712.2(THRB):c.1010_1012del:p.Thr337del	coding	Pathogenic
3	24229009	G	GA	T24229016A	THRB	NM_001354712.2(THRB):c.-42-14dup	noncoding	Benign
3	25596470	C	CCT	A25596476T	RARB	NM_000965.4(RARB):c.1203_1204TC[3]:p.Ile403fs	coding	Pathogenic
3	25638314	T	TAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAATAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	G25638353A	TOP2B	NM_001068.3(TOP2B):c.381-5_381-4insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTATTTTTT	noncoding	Benign
3	25719533	TG	T	G25719536T	NGLY1	NM_018297.4(NGLY1):c.1891del:p.Gln631fs	coding	Pathogenic/Likely_pathogenic
3	25729173	A	AT	C25729178T	NGLY1	NM_018297.4(NGLY1):c.1570dup:p.Met524fs	coding	Pathogenic
3	25729207	TTTGA	T	A25729211T	NGLY1	NM_018297.4(NGLY1):c.1533_1536del:p.Asn511fs	coding	Pathogenic
3	25732373	T	TC	A25732379C	NGLY1	NM_018297.4(NGLY1):c.1370dup:p.Arg458fs	coding	Pathogenic
3	25733889	TA	T	A25733891T	NGLY1	NM_018297.4(NGLY1):c.1242del:p.Asn415fs	coding	Pathogenic
3	25733924	GTTC	G	T25733929G	NGLY1	NM_018297.4(NGLY1):c.1202_1204GAA[1]:p.Arg402del	coding	Pathogenic
3	25739584	ATCGATTGCTGAACTGGC	A	T25739585A	NGLY1	NM_018297.4(NGLY1):c.857_873del:p.Cys286fs	coding	Pathogenic
3	25739731	G	GA	T25739738A	NGLY1	NM_018297.4(NGLY1):c.726dup:p.His243fs	coding	Pathogenic
3	25751271	GA	G	A25751282C	NGLY1	NM_001145294.1(NGLY1):c.367-9delT	noncoding	Benign
3	25783351	AC	A	C25783352G	NGLY1	NM_018297.4(NGLY1):c.39del:p.Ser14fs	coding	Pathogenic
3	27284881	G	GA	T27284883A	NEK10	NM_152534.4(NEK10):c.1869dup:p.His624fs	coding	Pathogenic
3	27721914	C	CGCG	T27721938G	EOMES	NM_001278182.2(EOMES):c.360_362CGC[8]:p.Ala130dup	coding	Benign/Likely_benign
3	27721936	G	GCGC	T27721938G	EOMES	NM_001278182.2(EOMES):c.358_359insGCG:p.Ala120_Ala121insGly	coding	Benign
3	30691490	A	AGT	G30691498T	TGFBR2	NM_003242.6(TGFBR2):c.1597_1598TG[4]:p.Ala535fs	coding	Pathogenic
3	30693838	G	GT	C30693848T	TGFBR2	NM_003242.6(TGFBR2):c.*2248dup	noncoding	Benign
3	32146756	GA	G	A32146757G	GPD1L	NM_015141.3(GPD1L):c.618+23del	noncoding	Benign
3	33014212	G	GC	A33014219C	GLB1	NM_000404.4(GLB1):c.1577dup:p.Trp527fs	coding	Pathogenic
3	33016721	G	GATATATGCACC	G33016736T	GLB1	NM_000404.4(GLB1):c.1456_1466dup:p.Ile489fs	coding	Pathogenic/Likely_pathogenic
3	33018495	AAG	A	A33018502G	GLB1	NM_000404.4(GLB1):c.1292_1293CT[3]:p.Ser433fs	coding	Pathogenic
3	33021610	G	GC	A33021614C	GLB1	NM_000404.4(GLB1):c.1188dup:p.Pro397fs	coding	Pathogenic
3	33021623	CAG	C	G33021625A	GLB1	NM_000404.4(GLB1):c.1174_1175del:p.Leu392fs	coding	Pathogenic/Likely_pathogenic
3	33024316	CT	C	T33024321C	GLB1	NM_000404.4(GLB1):c.1077del:p.Val360fs	coding	Pathogenic
3	33051893	T	TCGCC	C33051899G	GLB1	NM_000404.4(GLB1):c.900_903dup:p.Ser302fs	coding	Pathogenic
3	33051914	CAT	C	T33051916G	GLB1	NM_000404.4(GLB1):c.881_882del:p.Leu293_Tyr294insTer	coding	Pathogenic
3	33051950	TG	T	G33051952A	GLB1	NM_000404.4(GLB1):c.846del:p.Thr283fs	coding	Pathogenic
3	33051979	CA	AG	C33051979A	GLB1	NM_000404.4(GLB1):c.817_818delinsCT:p.Trp273Leu	coding	Pathogenic/Likely_pathogenic
3	33058122	GC	G	C33058123A	GLB1	NM_000404.4(GLB1):c.699del:p.Gln234fs	coding	Pathogenic
3	33058127	G	GC	A33058132C	GLB1	NM_000404.4(GLB1):c.694dup:p.Ala232fs	coding	Pathogenic/Likely_pathogenic
3	33065480	GCCCT	G	C33065483A	GLB1	NM_000404.4(GLB1):c.531_534del:p.Gly178fs	coding	Pathogenic
3	33068937	T	TGGCCAGGGCTCATGAAAGTTCCA	G33068963C	GLB1	NM_000404.4(GLB1):c.256_278dup:p.Gln95fs	coding	Pathogenic
3	33072619	TA	T	A33072620G	GLB1	NM_000404.4(GLB1):c.169del:p.Tyr57fs	coding	Pathogenic
3	33072625	AT	A	T33072626G	GLB1	NM_000404.4(GLB1):c.163del:p.Ile55fs	coding	Pathogenic
3	33097008	T	TA	C33097010A	GLB1	NM_000404.4(GLB1):c.75+2dup	noncoding	Pathogenic
3	33097034	G	GA	G33097037A	GLB1	NM_000404.4(GLB1):c.51dup:p.Leu18fs	coding	Pathogenic
3	33114083	GC	G	C33114085G	CRTAP	NM_006371.5(CRTAP):c.8del:p.Pro3fs	coding	Pathogenic
3	33114195	GAGCTGATGCCGCTCG	TACCC	G33114195T	CRTAP	NM_006371.5(CRTAP):c.118_133delinsTACCC:p.Glu40fs	coding	Pathogenic
3	33114394	TGC	T	G33114397C	CRTAP	NM_006371.4(CRTAP):c.320_321delGC	coding	Pathogenic
3	33119498	A	ATTT	C33119508T	CRTAP	NM_006371.4(CRTAP):c.472-839_472-837dup	noncoding	Benign
3	33130021	AT	A	T33130024G	CRTAP	NM_006371.4(CRTAP):c.879del:p.Phe293fs	coding	Pathogenic
3	33143535	G	GGAACTA	G33143544A	CRTAP	NM_006371.4(CRTAP):c.*1090_*1095dup	noncoding	Benign
3	36993552	CGTTCGTGGCAGGG	C	C36993556A	MLH1	NM_000249.3(MLH1):c.9_21del:p.Phe3fs	coding	Pathogenic
3	36993555	TC	T	C36993556G	MLH1	NM_001167617.2(MLH1):c.-508del	coding	Pathogenic
3	36993558	TGGCAGGGGTTATTC	T	A36993562G	MLH1	NM_001167617.2(MLH1):c.-502_-489del	coding	Pathogenic
3	36993562	A	AG	T36993567G	MLH1	NM_000249.4(MLH1):c.19dup:p.Val7fs	coding	Pathogenic
3	36993562	AG	A	G36993566T	MLH1	NM_000249.4(MLH1):c.19del:p.Val7fs	coding	Pathogenic
3	36993562	AGGGGTTATTCGGCGGCT	A	G36993565A	MLH1	NM_001167617.2(MLH1):c.-499_-483del	coding	Pathogenic
3	36993565	GGTTATTCGGCGGCTGGA	G	G36993566C	MLH1	NM_001167617.2(MLH1):c.-498_-482del	coding	Pathogenic
3	36993568	T	TA	T36993570A	MLH1	NM_001167617.2(MLH1):c.-495dup	coding	Pathogenic
3	36993572	CG	TA	C36993572T	MLH1	NM_001167617.2(MLH1):c.-492_-491delinsTA	coding	Pathogenic
3	36993577	GC	G	C36993578T	MLH1	NM_001167617.2(MLH1):c.-486del	coding	Pathogenic
3	36993579	T	TG	A36993582G	MLH1	NM_000249.3(MLH1):c.34dup:p.Asp12fs	coding	Pathogenic/Likely_pathogenic
3	36993583	C	CGA	C36993588G	MLH1	NM_001167617.2(MLH1):c.-480_-479GA[3]	coding	Pathogenic
3	36993583	CG	C	G36993584A	MLH1	NM_001167617.2(MLH1):c.-480del	coding	Pathogenic
3	36993584	G	GACCC	G36993586C	MLH1	NM_000249.3(MLH1):c.38_39insCCCA:p.Glu13fs	coding	Pathogenic
3	36993584	G	GA	G36993586A	MLH1	NM_001167617.2(MLH1):c.-479dup	coding	Pathogenic
3	36993590	G	GT	G36993592T	MLH1	NM_001167617.2(MLH1):c.-473dup	coding	Pathogenic
3	36993592	GGTGAACC	G	T36993594C	MLH1	NM_001167617.2(MLH1):c.-470_-464del	coding	Pathogenic
3	36993597	AC	A	C36993599G	MLH1	NM_001167617.2(MLH1):c.-465del	coding	Pathogenic
3	36993600	GC	G	C36993601A	MLH1	NM_000249.4(MLH1):c.54del:p.Ile19fs	coding	Pathogenic
3	36993604	CGCGGCGGGGGAAGTTATCCA	C	G36993610C	MLH1	NM_001167617.2(MLH1):c.-454_-435del	coding	Pathogenic
3	36993606	CG	C	G36993608C	MLH1	NM_001167617.2(MLH1):c.-456del	coding	Pathogenic
3	36993609	C	CG	A36993615G	MLH1	NM_000249.3(MLH1):c.67dup:p.Glu23fs	coding	Pathogenic
3	36993609	CG	C	G36993614A	MLH1	NM_001167617.2(MLH1):c.-450del	coding	Pathogenic
3	36993615	AAGTT	CTA	A36993615C	MLH1	NM_000249.4(MLH1):c.68_72delinsCTA:p.Glu23fs	coding	Pathogenic
3	36993616	AG	A	G36993617T	MLH1	NM_001167617.2(MLH1):c.-447del	coding	Pathogenic
3	36993617	GTTATC	G	T36993618C	MLH1	NM_001167617.2(MLH1):c.-446_-442del	coding	Pathogenic
3	36993618	T	TTATCCAGCGGC	C36993630T	MLH1	NM_000249.4(MLH1):c.72_82dup:p.Pro28fs	coding	Pathogenic
3	36993619	TA	T	A36993620T	MLH1	NM_001167617.2(MLH1):c.-444del	coding	Pathogenic
3	36993621	TC	T	C36993623A	MLH1	NM_001167617.2(MLH1):c.-441del	coding	Pathogenic
3	36993623	CA	C	A36993624G	MLH1	NM_000249.4(MLH1):c.77del:p.Gln26fs	coding	Pathogenic
3	36993624	AG	A	G36993625C	MLH1	NM_001167617.2(MLH1):c.-439del	coding	Pathogenic
3	36993630	CA	C	A36993631G	MLH1	NM_001167617.2(MLH1):c.-433del	coding	Pathogenic
3	36993640	TA	T	A36993641T	MLH1	NM_001167617.2(MLH1):c.-423del	coding	Pathogenic
3	36993645	AAG	A	G36993649T	MLH1	NM_001167617.2(MLH1):c.-417_-416GA[1]	coding	Pathogenic
3	36993651	TG	AC	T36993651A	MLH1	NM_001167617.2(MLH1):c.-413_-412delinsAC	coding	Pathogenic
3	36993651	T	TAA	G36993652A	MLH1	NM_000249.3(MLH1):c.104_105insAA:p.Met35fs	coding	Pathogenic
3	36993657	AG	A	G36993658A	MLH1	NM_000249.4(MLH1):c.111del:p.Asn38fs	coding	Pathogenic
3	36996618	GT	G	T36996621A	MLH1	NM_001167617.2(MLH1):c.-171del	coding	Pathogenic
3	36996627	C	CA	T36996632A	MLH1	NM_001167617.2(MLH1):c.-161dup	coding	Pathogenic
3	36996629	A	AAATC	C36996634A	MLH1	NM_001167617.2(MLH1):c.-162_-159dup	coding	Pathogenic
3	36996632	TC	T	C36996634A	MLH1	NM_000249.4(MLH1):c.132del:p.Thr45fs	coding	Pathogenic
3	36996650	A	AT	G36996653T	MLH1	NM_001167617.2(MLH1):c.-140dup	coding	Pathogenic
3	36996650	ATTGT	A	T36996652A	MLH1	NM_001167617.2(MLH1):c.-140_-137del	coding	Pathogenic
3	36996653	G	GT	A36996656T	MLH1	NM_001167617.2(MLH1):c.-137dup	coding	Pathogenic
3	36996655	TAAAG	T	A36996657G	MLH1	NM_000249.4(MLH1):c.155_158del:p.Lys52fs	coding	Pathogenic
3	36996655	TAA	T	A36996657G	MLH1	NM_001167617.2(MLH1):c.-135_-134del	coding	Pathogenic
3	36996655	TA	T	A36996658G	MLH1	NM_001167617.2(MLH1):c.-134del	coding	Pathogenic
3	36996655	T	TA	G36996659A	MLH1	NM_001167617.2(MLH1):c.-134dup	coding	Pathogenic
3	36996658	AGAGG	A	G36996663C	MLH1	NM_001167617.2(MLH1):c.-133_-130GAGG[1]	coding	Pathogenic
3	36996660	AG	A	G36996663A	MLH1	NM_001167617.2(MLH1):c.-129del	coding	Pathogenic
3	36996676	GA	T	G36996676T	MLH1	NM_001167617.2(MLH1):c.-116_-115delinsT	coding	Pathogenic/Likely_pathogenic
3	36996676	G	GA	T36996678A	MLH1	NM_001167617.2(MLH1):c.-115dup	coding	Pathogenic
3	36996691	CAA	C	A36996692T	MLH1	NM_001167617.2(MLH1):c.-100_-99del	coding	Pathogenic
3	36996691	C	CA	T36996694A	MLH1	NM_001167617.2(MLH1):c.-99dup	coding	Pathogenic
3	36996696	GC	G	C36996697A	MLH1	NM_001167617.2(MLH1):c.-95del	coding	Pathogenic
3	36996697	C	ATCTT	C36996697A	MLH1	NM_001167617.2(MLH1):c.-95delinsATCTT	coding	Pathogenic
3	36996698	A	AC	G36996701C	MLH1	NM_001167617.2(MLH1):c.-92dup	coding	Pathogenic
3	36996700	C	CG	A36996704G	MLH1	NM_000249.3(MLH1):c.201dup:p.Ile68fs	coding	Pathogenic
3	36996700	CG	C	G36996703A	MLH1	NM_001167617.2(MLH1):c.-89del	coding	Pathogenic
3	36996706	CA	C	A36996707G	MLH1	NM_001167617.2(MLH1):c.-85del	coding	Pathogenic
3	37000947	TCTAACAGAAAGAAGATCTGGATATTGTATGTGAAAGGTTCACTACTAGTAAACTGCAGTC	T	A37000950T	MLH1	NM_000249.4(MLH1):c.208-5_262del	noncoding	Pathogenic
3	37000952	CAGAAAGA	C	A37000956T	MLH1	NM_000249.3(MLH1):c.209_215delAAGAAGA	noncoding	Pathogenic
3	37000952	CAGAA	C	A37000957G	MLH1	NM_000249.3(MLH1):c.210_213delAGAA	noncoding	Pathogenic
3	37000952	CAG	C	G37000954A	MLH1	NM_000249.3(MLH1):c.208-1_208del	noncoding	Pathogenic
3	37000955	AAAG	A	A37000960T	MLH1	NM_000249.4(MLH1):c.210AGA[1]:p.Glu71del	coding	Pathogenic
3	37000975	ATG	A	T37000978A	MLH1	NM_001167617.2(MLH1):c.-61_-60TG[1]	coding	Pathogenic
3	37000978	TG	T	G37000979A	MLH1	NM_001167617.2(MLH1):c.-58del	coding	Pathogenic
3	37000979	GAAAGGTTCACT	ATGTAAGG	G37000979A	MLH1	NM_000249.4(MLH1):c.232_243delinsATGTAAGG:p.Glu78_Thr81delinsMetTer	coding	Pathogenic
3	37000982	AG	A	G37000984T	MLH1	NM_000249.4(MLH1):c.237del:p.Arg79fs	coding	Pathogenic
3	37000990	T	TA	C37000992A	MLH1	NM_001167617.2(MLH1):c.-46dup	coding	Pathogenic
3	37000996	TA	T	A37000999C	MLH1	NM_001167617.2(MLH1):c.-38del	coding	Pathogenic
3	37001006	TC	T	C37001008T	MLH1	NM_001167617.2(MLH1):c.-29del	coding	Pathogenic
3	37001013	AG	A	G37001015A	MLH1	NM_001167617.2(MLH1):c.-22del	coding	Pathogenic
3	37001027	AT	A	T37001030C	MLH1	NM_001167617.2(MLH1):c.-7del	coding	Pathogenic/Likely_pathogenic
3	37001036	T	TA	T37001038A	MLH1	NM_000249.4(MLH1):c.290dup:p.Tyr97Ter	coding	Pathogenic
3	37001054	G	GT	A37001056T	MLH1	NM_000249.3(MLH1):c.306+2dup	noncoding	Pathogenic
3	37002980	TCACTGTAATTATACAGGAAGATTTATTGAGGGATTTCTGTGTACCAGCCGTGGTTCTCAGCACTTTGTATACTTTGTATTAACTCTGACTCCTGACAGTAACTCTACAGAGGTTCTGCTGTTACCCAGTTTTACATAGAAACATGGCCAGCGGACGCAGTTAGAAAATGGCAAAGTGGGGATTAGAAACTAGGCAGTTTGACTCCAGAGTCTGTGCCCCTGTCCACTTGGCTCCACTGCTGGGGAAGAGGCCTCTGAAGCAGCAGGACCATCTGCTGTGCCGTGTGTAGTGGTACTCTATCTTCCTGGTGTGATGTTGTGTTCTACTTTGCATTTTCATGTCTTTCCTTATACAGGTCTCAAAATCATTTACTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCACTCTGTTGCCCAGGCTAGAGTGTAGTGGCATAGTCTCACTCACTGCAACCTCCGCCTCCGAGGTTCAAGTAATTCTCCTGCCTCAGCCTCCCAAGTAGCTCGGATTACAGGCACATGCCACCACAGCTAGCAAATTTTTGTATTTTTAGTAGAGATTGGTGTTTCACCATGTTGGCCAGGCTGTTCTTGAACTCCTGACCTCAGGTGATCCACCCACCTAGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCCCACCCAGCCTTATATTTTTTAATGATGCACATTAGCTCAATTACATAAACCAGGGAAATCCAGCTAGGACCTGGTGATTTCTGAGCCTGACCCATGTGACTTTCAATGAACTGAACTTGCCACAGCTGTATTTACTGTCTACTGAGATGCTGTCACACAGACCCCGTCATAGCACAGTTCCTGAGTTACATCTTTACATACTGTAGTATCCTTCTTGTGAAAAAAGATACAGATTCCAAAGGTCTGAGAAACCAATCTTGGTTATAAAGGGGAAAAATGGTCATGGGTTTTTAAAATTTGTTTTGTCTTAATTGCATTTCAAATTTACATTTCTAAATGAATAATTGCTTATATAAAGCAGTTTTGATTAACAATATAAAACACTATCTATTTGGAGTGATTCCTTTACCCATTTCTGAAGGCAAGTTTTAAAAATTACTAGAAGACACTTCATTGAGAATATTATTAAACATGCCTATAGTTCTACCACCTCAACACAATTGCTTATTAACACATTAATGTTTTGGTGTGTTTTGGACTTTTTAATATGTATTTTTCACTTGTTCTAGTAATTATGCTACAGATTGATCATTTCTTTTTCAACATGTCATCAAAGCAAGTGAGCAAAGTGCTCATCGTTGCCACATATTAATACAAAATGGAAGCAGCAGTTCAGATAACCTTTCCCTTTGGTGAGGTGACAGTGGGTGACCCAGCAGTGAGTTTTTCTTTCAGTCTATTTTCTTTTCTTCCTTAGGCTTTGGCCAGCATAAGCCATGTGGCTCATGTTACTATTACAACGAAAACAGCTGATGGAAAGTGTGCATACAGGTATAGTGCTGACTTCTTTTACTCATATATATTCATTCTGAAATGTATTTTTTGCCTAGGTCTCAGAGTAATCCTGTCTCAACACCAGTGTTATCTTTTTTGGCAGAGATCTTGAGTACGTTTTCTTTTCTCCTTATTGATAAATTGATAATCCTCAAGGATGATTATTAGGTGATACTCTTACTTCATGGATTCTTAAAAGATATGATTTAACATATTACAAGTGCCTAGCAAGGTGTCTGTTACACGTAGGTATTTTAAGTAAATGGTAGCTGCTGATGTAATTTCTGCCCCTTTGCCCTTCAGTTGGGGTATTGCTTTGGACCGATTAGAGGGCTGTGGCTGGGATGCTAAAGGTTCATGTTTCCTTAGCTGGCTCCTGAGCCACCAGCTCCCACCACCTGTGTATACCTGTGCTAGTTTGCCTTCCCACAAGTAGCTGCTGGCTATCTGTTATGCTGGTACAGTTTTCAGAAACTGATGAATGGCCTTTGAACAGAACAAAAATGAGATTCAGAATAACAAAATTGCACCTTTGTTTTTATAAGCACTGGCCATTCACTAGTTGAAGACTGGTAGGAATACCTAATTCATGCCAAAAGAAAGATAATTTTTAAAAATCAC	T	C37002981A	MLH1	NM_000249.3(MLH1):c.307-1420_380+624del	noncoding	Pathogenic
3	37004414	TAAGCCATGTGGCTC	T	A37004416T	MLH1	NM_000249.3(MLH1):c.322_335del:p.Ser108fs	coding	Pathogenic
3	37004431	GT	G	T37004433A	MLH1	NM_001167618.2(MLH1):c.-385del	coding	Pathogenic
3	37004434	AC	A	C37004435T	MLH1	NM_001167618.2(MLH1):c.-383del	coding	Pathogenic
3	37004439	TA	T	A37004440C	MLH1	NM_001167618.2(MLH1):c.-378del	coding	Pathogenic
3	37004439	T	TA	C37004441A	MLH1	NM_001167618.2(MLH1):c.-378dup	coding	Pathogenic
3	37004440	AC	A	C37004441A	MLH1	NM_001167618.2(MLH1):c.-377del	coding	Pathogenic/Likely_pathogenic
3	37004445	G	GAA	C37004450A	MLH1	NM_001167618.2(MLH1):c.-370_-369dup	coding	Pathogenic
3	37004450	C	CT	A37004451T	MLH1	NM_000249.4(MLH1):c.356_357insT:p.Ala120fs	coding	Pathogenic
3	37004462	AGT	A	T37004466C	MLH1	NM_001167618.2(MLH1):c.-354_-353TG[1]	coding	Pathogenic
3	37004471	AC	A	C37004472A	MLH1	NM_001167618.2(MLH1):c.-346del	coding	Pathogenic
3	37006991	AG	A	G37006992C	MLH1	NM_001167618.2(MLH1):c.-342del	coding	Pathogenic
3	37006992	GCAAGTTACTCAGATGGAAAA	T	G37006992T	MLH1	NM_000249.4(MLH1):c.382_402delinsT:p.Ala128fs	coding	Pathogenic
3	37006995	AG	GTT	A37006995G	MLH1	NM_001167618.2(MLH1):c.-339_-338delinsGTT	coding	Pathogenic
3	37006996	GT	G	T37006998A	MLH1	NM_001167618.2(MLH1):c.-336del	coding	Pathogenic
3	37006998	TA	T	A37006999C	MLH1	NM_001167618.2(MLH1):c.-335del	coding	Pathogenic
3	37007002	CA	C	A37007003G	MLH1	NM_000249.4(MLH1):c.393del:p.Asp132fs	coding	Pathogenic
3	37007002	CAGAT	C	A37007003G	MLH1	NM_000249.3(MLH1):c.393_396del:p.Asp132fs	coding	Pathogenic
3	37007013	C	CT	G37007015T	MLH1	NM_000249.3(MLH1):c.404dup:p.Lys136fs	coding	Pathogenic/Likely_pathogenic
3	37007013	CTGAA	C	T37007014A	MLH1	NM_001167618.2(MLH1):c.-320_-317del	coding	Pathogenic
3	37007027	TA	T	A37007030C	MLH1	NM_001167618.2(MLH1):c.-304del	coding	Pathogenic
3	37007037	G	GC	T37007039C	MLH1	NM_001167618.2(MLH1):c.-296dup	coding	Pathogenic
3	37007055	C	CA	G37007057A	MLH1	NM_000249.4(MLH1):c.446dup:p.Ile150fs	coding	Pathogenic
3	37007065	TAAGAA	GATC	T37007065G	MLH1	NM_000249.4(MLH1):c.453+2_453+7delinsGATC	noncoding	Pathogenic
3	37008810	TCAGGTGGAGGACCTTTTTTACAACATAGCCACGAGGAGAAAAGCTTTAAAAAATCCAAGTGAAGAATATGGGAAAATTTTGGAAGTTGTTGG	T	G37008816A	MLH1	NM_000249.3(MLH1):c.456_545+2del	noncoding	Pathogenic
3	37008816	GGAGG	TGGGGA	G37008816T	MLH1	NM_000249.4(MLH1):c.456_460delinsTGGGGA:p.Glu153fs	coding	Pathogenic
3	37008818	AG	A	G37008820A	MLH1	NM_000249.4(MLH1):c.460del:p.Asp154fs	coding	Pathogenic
3	37008821	AC	A	C37008823T	MLH1	NM_000249.4(MLH1):c.463del:p.Leu155fs	coding	Pathogenic
3	37008823	C	CT	A37008830T	MLH1	NM_000249.3(MLH1):c.469dup:p.Tyr157fs	coding	Pathogenic/Likely_pathogenic
3	37008823	CT	C	T37008829A	MLH1	NM_000249.4(MLH1):c.469del:p.Tyr157fs	coding	Pathogenic
3	37008823	CTT	C	T37008828A	MLH1	NM_001167618.2(MLH1):c.-256_-255del	coding	Pathogenic
3	37008831	CA	C	A37008833C	MLH1	NM_000249.4(MLH1):c.473del:p.Asn158fs	coding	Pathogenic
3	37008833	AC	A	C37008834A	MLH1	NM_001167618.2(MLH1):c.-250del	coding	Pathogenic
3	37008839	CCA	C	A37008841G	MLH1	NM_000249.4(MLH1):c.481_482del:p.Thr161fs	coding	Pathogenic
3	37008847	AG	A	G37008848A	MLH1	NM_001167618.2(MLH1):c.-236del	coding	Pathogenic
3	37008848	GA	G	A37008852G	MLH1	NM_001167618.2(MLH1):c.-232del	coding	Pathogenic
3	37008852	AG	A	G37008853C	MLH1	NM_001167618.2(MLH1):c.-231del	coding	Pathogenic
3	37008854	C	CT	A37008858T	MLH1	NM_001167618.2(MLH1):c.-227dup	coding	Pathogenic
3	37008854	CT	C	T37008857A	MLH1	NM_001167618.2(MLH1):c.-227del	coding	Pathogenic
3	37008857	TAA	T	A37008862T	MLH1	NM_001167618.2(MLH1):c.-222_-221del	coding	Pathogenic
3	37008857	TA	C	T37008857C	MLH1	NM_001167618.2(MLH1):c.-227_-226delinsC	coding	Pathogenic
3	37008857	TA	T	A37008863T	MLH1	NM_000249.4(MLH1):c.503del:p.Asn168fs	coding	Pathogenic
3	37008857	T	TA	T37008864A	MLH1	NM_001167618.2(MLH1):c.-221dup	coding	Pathogenic
3	37008868	AG	A	G37008869T	MLH1	NM_000249.4(MLH1):c.509del:p.Ser170fs	coding	Pathogenic
3	37008871	GA	G	A37008873G	MLH1	NM_001167618.2(MLH1):c.-211del	coding	Pathogenic
3	37008882	GA	G	A37008886T	MLH1	NM_000249.4(MLH1):c.526del:p.Ile176fs	coding	Pathogenic
3	37008883	A	AAG	A37008885G	MLH1	NM_000249.3(MLH1):c.524_525insGA:p.Ile176fs	coding	Pathogenic
3	37008891	GG	AT	G37008891A	MLH1	NM_001167618.2(MLH1):c.-193_-192delinsAT	coding	Pathogenic
3	37008891	GG	CT	G37008891C	MLH1	NM_001167618.2(MLH1):c.-193_-192delinsCT	coding	Pathogenic
3	37008900	TG	T	G37008902C	MLH1	NM_001167618.2(MLH1):c.-182del	coding	Pathogenic
3	37011840	GC	G	C37011841A	MLH1	NM_001167618.2(MLH1):c.-157del	coding	Pathogenic
3	37011856	TA	T	A37011862G	MLH1	NM_001167618.2(MLH1):c.-136del	coding	Pathogenic
3	37011856	T	TA	G37011863A	MLH1	NM_000249.4(MLH1):c.588dup:p.Gln197fs	coding	Pathogenic
3	37012014	GGA	G	G37012019C	MLH1	NM_001167618.2(MLH1):c.-131_-130GA[2]	coding	Pathogenic
3	37012025	AG	A	G37012026C	MLH1	NM_001167618.2(MLH1):c.-120del	coding	Pathogenic
3	37012046	CA	C	A37012048T	MLH1	NM_001167618.2(MLH1):c.-98del	coding	Pathogenic
3	37012053	TC	T	C37012054A	MLH1	NM_000249.4(MLH1):c.632del:p.Ala210_Ser211insTer	coding	Pathogenic
3	37012054	C	CT	A37012055T	MLH1	NM_000249.3(MLH1):c.632_633insT:p.Thr212fs	coding	Pathogenic
3	37012060	TG	T	G37012062A	MLH1	NM_001167618.2(MLH1):c.-84del	coding	Pathogenic
3	37012070	TC	T	C37012071G	MLH1	NM_001167618.2(MLH1):c.-75del	coding	Pathogenic
3	37012084	GA	G	A37012087T	MLH1	NM_001167618.2(MLH1):c.-59del	coding	Pathogenic
3	37012084	G	GA	T37012088A	MLH1	NM_001167618.2(MLH1):c.-59dup	coding	Pathogenic
3	37012092	GT	G	T37012094A	MLH1	NM_001167618.2(MLH1):c.-52del	coding	Pathogenic
3	37012094	TAGTC	T	A37012095G	MLH1	NM_001167618.2(MLH1):c.-51_-48del	coding	Pathogenic
3	37012094	T	TA	G37012096A	MLH1	NM_000249.4(MLH1):c.673dup:p.Ser225fs	coding	Pathogenic
3	37012098	CG	C	G37012100T	MLH1	NM_001167617.2(MLH1):c.383+1del	coding	Pathogenic
3	37012099	GG	AT	G37012099A	MLH1	NM_000249.3(MLH1):c.677_677+1delinsAT	coding	Pathogenic
3	37014409	CTTCAGAATCTCTTTTCTAATAGAGAACTGATAGAAA	C	C37014412G	MLH1	NM_000249.4(MLH1):c.678-20_693del	noncoding	Pathogenic
3	37014420	CTTTTCTAATAGAGAACTGATAGAAA	C	T37014423G	MLH1	NM_000249.3(MLH1):c.678-9_693del	noncoding	Pathogenic
3	37014427	AAT	A	T37014429G	MLH1	NM_000249.3(MLH1):c.678-3_678-2del	noncoding	Pathogenic
3	37014436	C	CT	G37014438T	MLH1	NM_001167618.2(MLH1):c.-41dup	coding	Pathogenic
3	37014440	TA	T	A37014441G	MLH1	NM_000249.4(MLH1):c.687del:p.Ile229fs	coding	Pathogenic
3	37014442	GA	G	A37014445T	MLH1	NM_001167618.2(MLH1):c.-33del	coding	Pathogenic
3	37014445	AT	A	T37014447G	MLH1	NM_001167618.2(MLH1):c.-31del	coding	Pathogenic
3	37014457	GATAAAACCCTAGCCTTCAAA	G	A37014460G	MLH1	NM_000249.3(MLH1):c.706_725del:p.Lys236fs	coding	Pathogenic
3	37014469	GC	G	C37014471T	MLH1	NM_001167618.2(MLH1):c.-7del	coding	Pathogenic
3	37014476	AAATG	A	A37014481G	MLH1	NM_001167618.2(MLH1):c.-1_3AATG[1]:p.Asn2fs	coding	Pathogenic
3	37014484	GGTTA	G	G37014485C	MLH1	NM_001354621.1(MLH1):c.-140+2386_-140+2389del	coding	Pathogenic
3	37014498	T	TG	C37014500G	MLH1	NM_001354621.1(MLH1):c.-140+2400dup	coding	Pathogenic
3	37014506	ACTC	A	C37014507A	MLH1	NM_001354621.1(MLH1):c.-140+2408_-140+2410del	coding	Pathogenic
3	37014508	TC	T	C37014509A	MLH1	NM_001354621.1(MLH1):c.-140+2410del	coding	Pathogenic
3	37014509	C	CA	G37014511A	MLH1	NM_000249.4(MLH1):c.756dup:p.Val253fs	coding	Pathogenic
3	37014524	TC	T	C37014525T	MLH1	NM_001354621.1(MLH1):c.-140+2426del	coding	Pathogenic
3	37014535	TTCA	T	T37014539A	MLH1	NM_001354621.1(MLH1):c.-140+2440_-140+2442del	coding	Pathogenic
3	37014536	T	TC	A37014538C	MLH1	NM_001354621.1(MLH1):c.-140+2438dup	coding	Pathogenic
3	37014544	CG	C	G37014545T	MLH1	NM_000249.3(MLH1):c.790+1del	coding	Pathogenic
3	37014545	G	GT	A37014547T	MLH1	NM_000249.3(MLH1):c.790+2dup	noncoding	Pathogenic
3	37017499	TGTTTAGATC	T	T37017502C	MLH1	NM_000249.3(MLH1):c.791-4_795del	noncoding	Pathogenic
3	37017504	AGATC	A	A37017506T	MLH1	NM_001354621.1(MLH1):c.-139-2804_-139-2801del	noncoding	Pathogenic
3	37017507	TC	T	C37017508G	MLH1	NM_001354621.1(MLH1):c.-139-2802del	coding	Pathogenic
3	37017508	CG	GT	C37017508G	MLH1	NM_001354621.1(MLH1):c.-139-2802_-139-2801delinsGT	coding	Pathogenic
3	37017508	CGTCTGGT	C	G37017509A	MLH1	NM_001354621.1(MLH1):c.-139-2801_-139-2795del	coding	Pathogenic
3	37017510	TC	T	C37017511T	MLH1	NM_001354621.1(MLH1):c.-139-2799del	coding	Pathogenic
3	37017522	AACTT	A	A37017523C	MLH1	NM_001354621.1(MLH1):c.-139-2787_-139-2784del	coding	Pathogenic
3	37017524	CTTCCT	C	T37017526G	MLH1	NM_001354621.1(MLH1):c.-139-2784_-139-2780del	coding	Pathogenic
3	37017535	A	AAAGC	C37017540A	MLH1	NM_001354621.1(MLH1):c.-139-2774_-139-2771dup	coding	Pathogenic
3	37017540	CATAGA	C	T37017542A	MLH1	NM_000249.3(MLH1):c.827_831del:p.Ile276fs	coding	Pathogenic
3	37017540	C	CA	T37017542A	MLH1	NM_001354621.1(MLH1):c.-139-2769dup	coding	Pathogenic
3	37017544	GA	G	A37017547C	MLH1	NM_001354621.1(MLH1):c.-139-2763del	coding	Pathogenic
3	37017546	A	AAC	G37017550C	MLH1	NM_000249.3(MLH1):c.833_834dup:p.Val279fs	coding	Pathogenic
3	37017559	GCCTATTTGCCCAAA	G	C37017560A	MLH1	NM_001354621.1(MLH1):c.-139-2750_-139-2737del	coding	Pathogenic
3	37017570	CAA	C	A37017574C	MLH1	NM_001354621.1(MLH1):c.-139-2736_-139-2735del	coding	Pathogenic
3	37017570	CA	C	A37017575C	MLH1	NM_001354621.1(MLH1):c.-139-2735del	coding	Pathogenic
3	37017570	C	CA	C37017576A	MLH1	NM_001354621.1(MLH1):c.-139-2735dup	coding	Pathogenic
3	37017571	A	AT	A37017572T	MLH1	NM_000249.3(MLH1):c.856_857insT:p.Lys286fs	coding	Pathogenic
3	37017574	A	AAC	C37017583A	MLH1	NM_001354621.1(MLH1):c.-139-2735AC[5]	coding	Pathogenic
3	37017574	AAC	A	A37017581C	MLH1	NM_001354621.1(MLH1):c.-139-2735AC[3]	coding	Pathogenic
3	37017597	CAGGT	C	G37017599A	MLH1	NM_000249.3(MLH1):c.884_884+3del	coding	Pathogenic
3	37020102	GAGGCAAAGAAAGATGATGTAACTTACGCAAAGCTACACAGCTCTTAAGTAGCAGTGCCAATATTTGAACACACTCAGACTCGATCCTGAGGTTTTGACCACTGTGTCATCTGGCCTCAAATCTTCTGGCCACCACATACACCATATGTGGGCTTTTTCTCCCCCTCCCACTATCTAAGGTAATTGTTCTCTCTTATTTTCCTGACAGTTTAGAAATCAGTCCCCAGAATGTGGATGTTAATGTGCACCCCACAAAGCATGAAGTTCACTTCCTGCACGAGGAGAGCATCCTGGAGCGGGTGCAGCAGCACATCGAGAGC	G	G37020104A	MLH1	NM_000249.3(MLH1):c.885-206_997del	noncoding	Pathogenic
3	37020309	G	GT	A37020313T	MLH1	NM_001354621.1(MLH1):c.-137dup	coding	Pathogenic
3	37020312	TA	T	A37020313G	MLH1	NM_001354621.1(MLH1):c.-136del	coding	Pathogenic
3	37020320	AGTCCCCAGAAT	A	C37020323G	MLH1	NM_000249.3(MLH1):c.898_908del:p.Pro300fs	coding	Pathogenic
3	37020322	TC	T	C37020326A	MLH1	NM_001354621.1(MLH1):c.-123del	coding	Pathogenic
3	37020327	AGAATGTG	A	A37020330T	MLH1	NM_000249.4(MLH1):c.905_911del:p.Asn302fs	coding	Pathogenic
3	37020330	ATG	A	T37020333G	MLH1	NM_001354621.1(MLH1):c.-118_-117TG[1]	coding	Pathogenic
3	37020335	GA	G	A37020336T	MLH1	NM_001354621.1(MLH1):c.-113del	coding	Pathogenic
3	37020342	AT	A	T37020343G	MLH1	NM_001354621.1(MLH1):c.-106del	coding	Pathogenic
3	37020345	T	TGC	A37020348G	MLH1	NM_001354621.1(MLH1):c.-103_-102dup	coding	Pathogenic
3	37020352	CA	C	A37020353C	MLH1	NM_001354621.1(MLH1):c.-96del	coding	Pathogenic
3	37020359	C	CA	T37020361A	MLH1	NM_001354621.1(MLH1):c.-89dup	coding	Pathogenic
3	37020362	G	GA	G37020365A	MLH1	NM_001354621.1(MLH1):c.-85dup	coding	Pathogenic
3	37020364	AG	A	G37020365T	MLH1	NM_001354621.1(MLH1):c.-84del	coding	Pathogenic
3	37020372	TC	T	C37020374T	MLH1	NM_001354621.1(MLH1):c.-75del	coding	Pathogenic
3	37020378	AC	A	C37020379G	MLH1	NM_001354621.1(MLH1):c.-70del	coding	Pathogenic
3	37020382	GGA	T	G37020382T	MLH1	NM_001354621.1(MLH1):c.-67_-65delinsT	coding	Pathogenic
3	37020382	G	GGA	C37020388A	MLH1	NM_001354621.1(MLH1):c.-65_-64AG[3]	coding	Pathogenic
3	37020387	G	GCATCCTGGAGCGGGTGCAGCAGCACATCGAGAGCAAGCTCCTGGGCTCCAAT	T37020440C	MLH1	NM_000249.3(MLH1):c.963_1014dup:p.Ser339fs	coding	Pathogenic
3	37020393	TG	T	G37020395A	MLH1	NM_001354621.1(MLH1):c.-54del	coding	Pathogenic
3	37020395	G	GA	G37020397A	MLH1	NM_000249.3(MLH1):c.971dup:p.Arg325fs	coding	Pathogenic/Likely_pathogenic
3	37020404	CAGCAGCACATCGAG	C	G37020409A	MLH1	NM_001354621.1(MLH1):c.-40_-27del	coding	Pathogenic
3	37020418	GA	G	A37020419G	MLH1	NM_001354621.1(MLH1):c.-30del	coding	Pathogenic
3	37020418	GAGCA	G	A37020422T	MLH1	NM_000249.3(MLH1):c.997_1000del:p.Lys333fs	coding	Pathogenic
3	37020428	CT	C	T37020429G	MLH1	NM_001354621.1(MLH1):c.-20del	coding	Pathogenic
3	37020429	TG	T	G37020432C	MLH1	NM_001354621.1(MLH1):c.-17del	coding	Pathogenic
3	37020434	TC	T	C37020436A	MLH1	NM_001354621.1(MLH1):c.-13del	coding	Pathogenic
3	37020434	T	TC	A37020437C	MLH1	NM_001354621.1(MLH1):c.-13dup	coding	Pathogenic
3	37020436	CAAT	AATGTGCA	C37020436A	MLH1	NM_001354621.1(MLH1):c.-13_-10delinsAATGTGCA	coding	Pathogenic
3	37020440	TC	T	C37020442T	MLH1	NM_001354621.1(MLH1):c.-7del	coding	Pathogenic
3	37020443	TCCAGGATGTACTTCAC	T	A37020449T	MLH1	NM_000249.3(MLH1):c.1024_1038+1del	coding	Pathogenic/Likely_pathogenic
3	37020446	A	ACCCT	G37020447C	MLH1	NM_000249.4(MLH1):c.1021_1022insCCCT:p.Arg341fs	coding	Pathogenic
3	37020446	AG	A	G37020448A	MLH1	NM_000249.4(MLH1):c.1023del:p.Met342fs	coding	Pathogenic
3	37020450	T	TG	T37020452G	MLH1	NM_001354624.1(MLH1):c.-36-5186dup	coding	Pathogenic
3	37020453	AC	A	C37020454T	MLH1	NM_001354624.1(MLH1):c.-36-5183del	coding	Pathogenic
3	37020456	TC	T	C37020457A	MLH1	NM_001354624.1(MLH1):c.-36-5180del	coding	Pathogenic/Likely_pathogenic
3	37020458	AC	A	C37020461A	MLH1	NM_001354624.1(MLH1):c.-36-5176del	coding	Pathogenic
3	37024960	ACCCTGGAATAGGCCTTTTCTCCGAGGAGCTCTAGTTCATTTTAGTGGGAAATGGTATTTAGAGACTATAATCTGGGATCTGGGAGTCCTCATTGCTACTGAGTAGTCATTACTTTTAGGCTTTTCCAGTGGTCAGAGCTAGGAAATATGTATATTTAAAAATGGACAGTTGAATGGTTGTTGCCAGGAGCTGGGAGGAAGGGGAAGTGAGAAATTGTTTAATGGGCACAGAGTTTCAGTTTGGGGAAGATGAAAAAGTTCTAGAGATAGCTGGTGGTGATGGTTGCGCAACAATGTAAATGCCACTGAGCTCTCATTTAAAAATGGTTAAAATGGTAAATTTTATATATATTTTACCACAATAAAAAAAAGTCTTCTTCTGGGAGCACCCCCCCAAGACAAAAATATGAAAATTTTACACTGATACTTCCATTTCAAGATAATTTTAAGATTATAAGGATTTTGCTTAATTCTTGAATTTTATACCTGTAAACCTTTTATACTTCAAATTTCGGGCAGAATTGCTTCTATAACAATGATAATTATACCTCATACTAGCTTCTTTCTTAGTACTGCTCCATTTGGGGACCTGTATATCTATACTTCTTATTCTGAGTCTCTCCACTATATATATATATATATATATATATTTTTTTTTTTTTTTTTTTTTAATACAGACTTTGCTACCAGGACTTGCTGGCCCCTCTGGGGAGATGGTTAAATCCACAACAAGTCTGACCTCGTCTTCTACTTCTGGAAGTAGTGATAAGGTCTATGCCCACCAGATGGTTCGTACAGATTCCCGGGAACAGAAGCTTGATGCATTTCTGCAGCCTCTGAGCAAACCCCTGTCCAGTCAGCCCCAGGCCATTGTCACAGAGGATAAGACAGATATTTCTAGTGGCAGGGCTAGGCAGCAAGATGAGGAGATGCTTGAACTCCCAGCCCCTGCTGAAGTGGCTGCCAAAAATCAGAGCTTGGAGGGGGATACAACAAAGGGGACTTCAGAAATGTCAGAGAAGAGAGGACCTACTTCCAGCAACCCCAGGTATGGCCTTTTGGGAAAAGTACAG	A	C37024963T	MLH1	NM_000249.3(MLH1):c.1039-674_1409+27del	noncoding	Pathogenic
3	37025604	ATATATT	A	A37025606T	MLH1	NM_000249.4(MLH1):c.1039-31_1039-26del	noncoding	Benign/Likely_benign
3	37025604	ATATATTT	A	A37025606T	MLH1	NM_000249.4(MLH1):c.1039-31_1039-25del	noncoding	Benign
3	37025604	ATATATTTT	A	A37025606T	MLH1	NM_000249.4(MLH1):c.1039-31_1039-24del	noncoding	Benign
3	37025606	ATATTTT	A	A37025608T	MLH1	NM_000249.4(MLH1):c.1039-29_1039-24del	noncoding	Benign
3	37025606	ATATTTTT	A	A37025608T	MLH1	NM_000249.4(MLH1):c.1039-29_1039-23del	noncoding	Benign
3	37025608	A	ATT	A37025630T	MLH1	NM_000249.3(MLH1):c.1039-9_1039-8dup	noncoding	Benign/Likely_benign
3	37025608	A	ATTT	A37025630T	MLH1	NM_000249.3(MLH1):c.1039-10_1039-8dup	noncoding	Benign/Likely_benign
3	37025608	A	ATTTT	A37025630T	MLH1	NM_000249.3(MLH1):c.1039-11_1039-8dup	noncoding	Benign/Likely_benign
3	37025608	A	ATTTTTT	A37025630T	MLH1	NM_000249.3(MLH1):c.1039-13_1039-8dup	noncoding	Benign
3	37025608	ATT	A	T37025628A	MLH1	NM_000249.3(MLH1):c.1039-9_1039-8del	noncoding	Benign
3	37025609	T	TATA	T37025610A	MLH1	NM_000249.4(MLH1):c.1039-28_1039-27insATA	noncoding	Benign
3	37025629	T	TA	T37025632A	MLH1	NM_000249.3(MLH1):c.1039-6dup	noncoding	Benign/Likely_benign
3	37025629	T	TTA	A37025630T	MLH1	NM_000249.3(MLH1):c.1039-8_1039-7insTA	noncoding	Benign/Likely_benign
3	37025629	T	TTTA	A37025630T	MLH1	NM_000249.3(MLH1):c.1039-8_1039-7insTTA	noncoding	Benign/Likely_benign
3	37025629	T	TTTTA	A37025630T	MLH1	NM_000249.3(MLH1):c.1039-8_1039-7insTTTA	noncoding	Benign
3	37025629	T	TTTTTA	A37025630T	MLH1	NM_000249.3(MLH1):c.1039-8_1039-7insTTTTA	noncoding	Benign
3	37025629	T	TTTTTTA	A37025630T	MLH1	NM_000249.3(MLH1):c.1039-8_1039-7insTTTTTA	noncoding	Benign/Likely_benign
3	37025629	T	TTTTTTTA	A37025630T	MLH1	NM_000249.3(MLH1):c.1039-26_1039-8delTTTTTTTTTTTTTTTTTTTinsTTTTTTTTTTTTTTTTTTTTTTTTTA	noncoding	Benign
3	37025629	T	TTTTTTTTA	A37025630T	MLH1	NM_000249.3(MLH1):c.1039-8_1039-7insTTTTTTTA	noncoding	Benign
3	37025629	T	TTTTTTTTTA	A37025630T	MLH1	NM_000249.3(MLH1):c.1039-8_1039-7insTTTTTTTTA	noncoding	Benign
3	37025629	T	TTTTTTTTTTA	A37025630T	MLH1	NM_000249.3(MLH1):c.1039-8_1039-7insTTTTTTTTTA	noncoding	Benign
3	37025629	T	TTTTTTTTTTTA	A37025630T	MLH1	NM_000249.3(MLH1):c.1039-8_1039-7insTTTTTTTTTTA	noncoding	Benign
3	37025629	T	TTTTTTTTTTTTA	A37025630T	MLH1	NM_000249.3(MLH1):c.1039-8_1039-7insTTTTTTTTTTTA	noncoding	Benign
3	37025629	T	TTTTTTTTTTTTTA	A37025630T	MLH1	NM_000249.3(MLH1):c.1039-8_1039-7insTTTTTTTTTTTTA	noncoding	Benign
3	37025629	T	TTTTTTTTTTTTTTA	A37025630T	MLH1	NM_000249.3(MLH1):c.1039-8_1039-7insTTTTTTTTTTTTTA	noncoding	Benign
3	37025629	T	TTTTTTTTTTTTTTTA	A37025630T	MLH1	NM_000249.3(MLH1):c.1039-8_1039-7insTTTTTTTTTTTTTTA	noncoding	Benign
3	37025629	T	TTTTTTTTTTTTTTTTA	A37025630T	MLH1	NM_000249.3(MLH1):c.1039-8_1039-7insTTTTTTTTTTTTTTTA	noncoding	Benign
3	37025629	T	TTTTTTTTTTTTTTTTTA	A37025630T	MLH1	NM_000249.3(MLH1):c.1039-8_1039-7insTTTTTTTTTTTTTTTTA	noncoding	Benign
3	37025629	T	TTTTTTTTTTTTTTTTTTA	A37025630T	MLH1	NM_000249.3(MLH1):c.1039-8_1039-7insTTTTTTTTTTTTTTTTTA	noncoding	Benign
3	37025629	T	TTTTTTTTTTTTTTTTTTTA	A37025630T	MLH1	NM_000249.3(MLH1):c.1039-8_1039-7insTTTTTTTTTTTTTTTTTTA	noncoding	Benign
3	37025629	T	TTTTTTTTTTTTTTTTTTTTA	A37025630T	MLH1	NM_000249.3(MLH1):c.1039-8_1039-7insTTTTTTTTTTTTTTTTTTTA	noncoding	Benign
3	37025629	T	TTTTTTTTTTTTTTTTTTTTTTTTTA	A37025630T	MLH1	NM_000249.3(MLH1):c.1039-8_1039-7insTTTTTTTTTTTTTTTTTTTTTTTTA	noncoding	Benign
3	37025629	T	TTTTTTTTTTTTTTTTTTTTTTTTTTTA	A37025630T	MLH1	NM_000249.3(MLH1):c.1039-8_1039-7insTTTTTTTTTTTTTTTTTTTTTTTTTTA	noncoding	Benign
3	37025638	CT	C	T37025641G	MLH1	NM_001354624.1(MLH1):c.-32del	coding	Pathogenic
3	37025638	CTT	C	T37025640G	MLH1	NM_000249.4(MLH1):c.1042_1043del:p.Leu348fs	coding	Pathogenic
3	37025643	C	CT	A37025645T	MLH1	NM_001354624.1(MLH1):c.-29dup	coding	Pathogenic
3	37025644	T	TA	C37025646A	MLH1	NM_001354624.1(MLH1):c.-28dup	coding	Pathogenic
3	37025645	ACC	T	A37025645T	MLH1	NM_001354624.1(MLH1):c.-28_-26delinsT	coding	Pathogenic
3	37025647	CA	C	A37025648G	MLH1	NM_001354624.1(MLH1):c.-25del	coding	Pathogenic
3	37025657	TG	T	G37025659C	MLH1	NM_001354624.1(MLH1):c.-14del	coding	Pathogenic
3	37025665	CTGGGGAGA	C	G37025669T	MLH1	NM_001354624.1(MLH1):c.-4_4del:p.Met1fs	coding	Pathogenic
3	37025666	TG	T	G37025670A	MLH1	NM_001354624.1(MLH1):c.-3del	coding	Pathogenic
3	37025667	GGGGAGAT	G	G37025670T	MLH1	NM_001354624.1(MLH1):c.-3_4del:p.Met1fs	coding	Pathogenic
3	37025677	TTAAATCCA	C	T37025677C	MLH1	NM_000249.3(MLH1):c.1079_1087delinsC:p.Val360fs	coding	Pathogenic
3	37025686	CA	C	A37025688C	MLH1	NM_000249.3(MLH1):c.1090del:p.Thr364fs	coding	Pathogenic
3	37025697	AC	A	C37025699T	MLH1	NM_001167617.2(MLH1):c.807del:p.Ser270fs	coding	Pathogenic
3	37025702	G	GT	C37025704T	MLH1	NM_001167617.2(MLH1):c.811dup:p.Ser271fs	coding	Pathogenic
3	37025724	G	GAT	A37025728T	MLH1	NM_001167617.2(MLH1):c.834_835dup:p.Lys279fs	coding	Pathogenic
3	37025726	T	TA	G37025729A	MLH1	NM_000249.3(MLH1):c.1130dup:p.Val378fs	coding	Pathogenic
3	37025728	AG	A	G37025730T	MLH1	NM_000249.4(MLH1):c.1132del:p.Val378fs	coding	Pathogenic
3	37025730	GTC	A	G37025730A	MLH1	NM_001167617.2(MLH1):c.838_840delinsA:p.Val280fs	coding	Pathogenic
3	37025740	AC	A	C37025742A	MLH1	NM_000249.4(MLH1):c.1144del:p.Gln382fs	coding	Pathogenic
3	37025742	C	CA	G37025744A	MLH1	NM_001167617.2(MLH1):c.851dup:p.Met285fs	coding	Pathogenic
3	37025746	TG	T	G37025748T	MLH1	NM_001167617.2(MLH1):c.856del:p.Val286fs	coding	Pathogenic
3	37025763	C	CG	A37025767G	MLH1	NM_000249.4(MLH1):c.1168dup:p.Glu390fs	coding	Pathogenic
3	37025767	AACAGAAGCTTGATGCATTTCTGC	A	C37025769G	MLH1	NM_000249.4(MLH1):c.1171_1193del:p.Gln391fs	coding	Pathogenic
3	37025779	AT	A	T37025780G	MLH1	NM_000249.3(MLH1):c.1182del:p.Asp394fs	coding	Pathogenic
3	37025787	CT	C	T37025788G	MLH1	NM_001167617.2(MLH1):c.896del:p.Leu299fs	coding	Pathogenic
3	37025790	CA	C	A37025791G	MLH1	NM_000249.4(MLH1):c.1193del:p.Gln398fs	coding	Pathogenic
3	37025804	A	AC	T37025809C	MLH1	NM_001167617.2(MLH1):c.916dup:p.Leu306fs	coding	Pathogenic
3	37025807	CCT	C	C37025808G	MLH1	NM_001167617.2(MLH1):c.916_917del:p.Leu306fs	coding	Pathogenic
3	37025809	TG	T	G37025810T	MLH1	NM_000249.4(MLH1):c.1212del:p.Ser405fs	coding	Pathogenic
3	37025814	A	AGTCAGCC	C37025822G	MLH1	NM_001167617.2(MLH1):c.923_929dup:p.Gln311fs	coding	Pathogenic
3	37025815	GT	G	T37025816C	MLH1	NM_001167617.2(MLH1):c.924del:p.Gln309fs	coding	Pathogenic
3	37025828	CAT	TG	C37025828T	MLH1	NM_000249.4(MLH1):c.1230_1232delinsTG:p.Ile411fs	coding	Pathogenic
3	37025828	C	CATTGTCACAGAGGATAAGACAG	A37025853T	MLH1	NM_000249.4(MLH1):c.1233_1254dup:p.Ile419delinsCysHisArgGlyTer	coding	Pathogenic
3	37025833	TCA	T	C37025836G	MLH1	NM_001167617.2(MLH1):c.942_943CA[1]:p.Thr315fs	coding	Pathogenic
3	37025836	CAG	C	A37025839G	MLH1	NM_000249.4(MLH1):c.1241_1242del:p.Glu414fs	coding	Pathogenic
3	37025848	CAG	C	G37025850T	MLH1	NM_001167617.2(MLH1):c.958_959del:p.Asp320fs	coding	Pathogenic
3	37025854	TTTCTAGTGGCAGGGCTA	T	T37025855G	MLH1	NM_000249.3(MLH1):c.1257_1273del:p.Ile419fs	coding	Pathogenic
3	37025858	TA	T	A37025859G	MLH1	NM_001167617.2(MLH1):c.967del:p.Ser323fs	coding	Pathogenic
3	37025859	AG	C	A37025859C	MLH1	NM_000249.4(MLH1):c.1261_1262delinsC:p.Ser421fs	coding	Pathogenic
3	37025859	A	TAT	A37025859T	MLH1	NM_001167617.2(MLH1):c.967delinsTAT:p.Ser323fs	coding	Pathogenic
3	37025904	GC	G	C37025908T	MLH1	NM_001167617.2(MLH1):c.1016del:p.Pro339fs	coding	Pathogenic
3	37025923	CCAAAAATCAGAGCTTGGAGGG	ATTTT	C37025923A	MLH1	NM_001167617.2(MLH1):c.1031_1052delinsATTTT:p.Ala344fs	coding	Pathogenic
3	37025924	C	CA	T37025930A	MLH1	NM_000249.4(MLH1):c.1331dup:p.Asn444fs	coding	Pathogenic
3	37025931	CA	C	A37025932G	MLH1	NM_001167617.2(MLH1):c.1040del:p.Gln347fs	coding	Pathogenic
3	37025931	CAG	C	A37025934C	MLH1	NM_001167617.2(MLH1):c.1040_1041AG[1]:p.Ser348fs	coding	Pathogenic
3	37025940	GA	G	A37025941G	MLH1	NM_001167617.2(MLH1):c.1049del:p.Glu350fs	coding	Pathogenic
3	37025941	A	AG	A37025947G	MLH1	NM_001167617.2(MLH1):c.1054dup:p.Asp352fs	coding	Pathogenic
3	37025941	AG	A	G37025946A	MLH1	NM_000249.4(MLH1):c.1348del:p.Asp450fs	coding	Pathogenic
3	37025945	GGATACAACAAAGGGGACTTC	TAAA	G37025945T	MLH1	NM_000249.4(MLH1):c.1347_1367delinsTAAA:p.Asp450fs	coding	Pathogenic
3	37025950	CA	C	A37025952C	MLH1	NM_001167617.2(MLH1):c.1060del:p.Thr354fs	coding	Pathogenic
3	37025953	C	CA	G37025957A	MLH1	NM_000249.3(MLH1):c.1358dup:p.Thr455fs	coding	Pathogenic
3	37025956	A	AG	A37025961G	MLH1	NM_001167617.2(MLH1):c.1068dup:p.Thr357fs	coding	Pathogenic
3	37025956	AG	A	G37025960A	MLH1	NM_001167617.2(MLH1):c.1068del:p.Thr357fs	coding	Pathogenic
3	37025974	CA	C	A37025975G	MLH1	NM_001167617.2(MLH1):c.1083del:p.Glu362fs	coding	Pathogenic
3	37025974	CAGAGA	C	A37025980G	MLH1	NM_001167617.2(MLH1):c.1083_1087AGAGA[1]:p.Lys363fs	coding	Pathogenic
3	37025974	CAG	C	G37025978A	MLH1	NM_001167617.2(MLH1):c.1084_1085GA[1]:p.Lys363fs	coding	Pathogenic
3	37025974	C	CA	G37025976A	MLH1	NM_001167617.2(MLH1):c.1083dup:p.Glu362fs	coding	Pathogenic
3	37025994	TC	T	C37025996A	MLH1	NM_001167617.2(MLH1):c.1104del:p.Ser369fs	coding	Pathogenic
3	37025997	AG	A	G37025998C	MLH1	NM_000249.3(MLH1):c.1400del:p.Ser467fs	coding	Pathogenic
3	37025998	GC	G	C37025999A	MLH1	NM_000249.3(MLH1):c.1401del:p.Ser467fs	coding	Pathogenic
3	37026001	A	AC	A37026006C	MLH1	NM_000249.3(MLH1):c.1407dup:p.Arg470fs	coding	Pathogenic
3	37028781	CAGAA	C	A37028785G	MLH1	NM_000249.4(MLH1):c.1411_1414del:p.Lys471Aspfs	noncoding	Pathogenic
3	37028782	AG	CC	A37028782C	MLH1	NM_000249.3(MLH1):c.1410-2_1410-1delinsCC	noncoding	Pathogenic/Likely_pathogenic
3	37028783	G	GA	G37028787A	MLH1	NM_001167617.2(MLH1):c.1118dup:p.Arg374fs	coding	Pathogenic
3	37028784	AAAGAGACATCGGG	A	G37028789T	MLH1	NM_001167617.2(MLH1):c.1121_1133del:p.Arg374fs	coding	Pathogenic
3	37028785	AAG	A	G37028789C	MLH1	NM_001167617.2(MLH1):c.1119_1120GA[1]:p.Arg374fs	coding	Pathogenic
3	37028785	AAGAG	A	G37028787C	MLH1	NM_001167617.2(MLH1):c.1119_1122del:p.Lys373fs	coding	Pathogenic
3	37028787	G	GA	G37028789A	MLH1	NM_001167617.2(MLH1):c.1120dup:p.Arg374fs	coding	Pathogenic
3	37028789	G	GA	C37028791A	MLH1	NM_000249.3(MLH1):c.1416dup:p.His473fs	coding	Pathogenic
3	37028793	TC	T	C37028794G	MLH1	NM_001167617.2(MLH1):c.1126del:p.Arg376fs	coding	Pathogenic
3	37028794	CG	C	G37028797A	MLH1	NM_000249.4(MLH1):c.1423del:p.Glu475fs	coding	Pathogenic
3	37028812	GA	G	A37028815T	MLH1	NM_000249.3(MLH1):c.1441del:p.Met481fs	coding	Pathogenic
3	37028819	TG	T	G37028821A	MLH1	NM_000249.3(MLH1):c.1447del:p.Glu483fs	coding	Pathogenic
3	37028821	GA	G	A37028823G	MLH1	NM_001167617.2(MLH1):c.1155del:p.Asp386fs	coding	Pathogenic
3	37028828	A	AT	C37028831T	MLH1	NM_000249.3(MLH1):c.1456dup:p.Ser486fs	coding	Pathogenic
3	37028833	CGAAAG	C	G37028838T	MLH1	NM_001167617.2(MLH1):c.1170_1174del:p.Lys390fs	coding	Pathogenic
3	37028834	GA	G	A37028837G	MLH1	NM_001167617.2(MLH1):c.1169del:p.Lys390fs	coding	Pathogenic
3	37028851	GC	G	C37028852T	MLH1	NM_000249.4(MLH1):c.1478del:p.Ala493fs	coding	Pathogenic
3	37028857	A	AC	G37028864C	MLH1	NM_001167617.2(MLH1):c.1195dup:p.Arg399fs	coding	Pathogenic
3	37028857	AC	A	C37028863G	MLH1	NM_001167617.2(MLH1):c.1195del:p.Arg399fs	coding	Pathogenic
3	37028863	C	CCG	G37028864C	MLH1	NM_000249.3(MLH1):c.1489_1490insCG:p.Arg497fs	coding	Pathogenic
3	37028863	C	CG	A37028866G	MLH1	NM_000249.3(MLH1):c.1491dup:p.Arg498fs	coding	Pathogenic
3	37028863	CG	C	G37028865A	MLH1	NM_001167617.2(MLH1):c.1197del:p.Arg400fs	coding	Pathogenic
3	37028876	TT	A	T37028876A	MLH1	NM_000249.4(MLH1):c.1502_1503delinsA:p.Ile501fs	coding	Pathogenic/Likely_pathogenic
3	37028887	AGT	A	G37028890T	MLH1	NM_001167617.2(MLH1):c.1220_1221GT[1]:p.Val408fs	coding	Pathogenic
3	37028890	G	GT	G37028895T	MLH1	NM_001167617.2(MLH1):c.1226dup:p.Leu409fs	coding	Pathogenic
3	37028890	GT	G	T37028894G	MLH1	NM_001167617.2(MLH1):c.1226del:p.Val408_Leu409insTer	coding	Pathogenic
3	37028894	TGA	T	A37028896T	MLH1	NM_000249.3(MLH1):c.1522_1523del:p.Leu509fs	coding	Pathogenic
3	37028899	CT	C	T37028900C	MLH1	NM_000249.3(MLH1):c.1526del:p.Leu509fs	coding	Pathogenic
3	37028915	A	AT	G37028917T	MLH1	NM_001167617.2(MLH1):c.1248dup:p.Glu417Ter	coding	Pathogenic
3	37028925	AC	A	C37028926A	MLH1	NM_001167617.2(MLH1):c.1258del:p.His420fs	coding	Pathogenic
3	37028926	C	CT	A37028927T	MLH1	NM_000249.3(MLH1):c.1552_1553insT:p.His518fs	coding	Pathogenic
3	37028927	A	AT	G37028929T	MLH1	NM_001167617.2(MLH1):c.1260dup:p.Glu421Ter	coding	Pathogenic
3	37028929	GAGGGTACGT	G	G37028931A	MLH1	NM_000249.4(MLH1):c.1557_1558+7del	coding	Pathogenic
3	37028930	A	AG	T37028934G	MLH1	NM_000249.3(MLH1):c.1558+1dup	coding	Pathogenic
3	37028931	G	GT	G37028932T	MLH1	NM_000249.3(MLH1):c.1557_1558insT:p.Val520fs	coding	Pathogenic
3	37040194	G	GA	G37040196A	MLH1	NM_000249.4(MLH1):c.1568dup:p.Met524fs	coding	Pathogenic
3	37040195	AG	A	G37040196A	MLH1	NM_000249.4(MLH1):c.1569del:p.Met524fs	coding	Pathogenic
3	37040197	ATG	A	G37040199T	MLH1	NM_001167617.2(MLH1):c.1278_1279del:p.Met426fs	coding	Pathogenic
3	37040199	GTT	G	T37040200G	MLH1	NM_001167617.2(MLH1):c.1279_1280del:p.Leu427fs	coding	Pathogenic
3	37040203	C	CAT	A37040207T	MLH1	NM_000249.3(MLH1):c.1578_1579dup:p.Asn527fs	coding	Pathogenic
3	37040213	CCTT	C	T37040215G	MLH1	NM_001167617.2(MLH1):c.1294_1296del:p.Phe432del	coding	Pathogenic
3	37040217	CG	C	G37040218T	MLH1	NM_000249.3(MLH1):c.1591del:p.Val531fs	coding	Pathogenic
3	37040217	CGT	C	T37040219G	MLH1	NM_001167617.2(MLH1):c.1298_1299del:p.Val433fs	coding	Pathogenic
3	37040219	TG	T	G37040222C	MLH1	NM_000249.4(MLH1):c.1595del:p.Gly532fs	coding	Pathogenic
3	37040223	CT	C	T37040224G	MLH1	NM_000249.3(MLH1):c.1597del:p.Cys533fs	coding	Pathogenic/Likely_pathogenic
3	37040227	GT	G	T37040228G	MLH1	NM_000249.3(MLH1):c.1601del:p.Val534fs	coding	Pathogenic
3	37040246	TGG	T	G37040247C	MLH1	NM_001167617.2(MLH1):c.1326_1327del:p.Leu442fs	coding	Pathogenic
3	37040248	GC	G	C37040249A	MLH1	NM_001167617.2(MLH1):c.1328del:p.Ala443fs	coding	Pathogenic
3	37040262	C	CAAGTT	T37040269A	MLH1	NM_000249.3(MLH1):c.1637_1641dup:p.Tyr548fs	coding	Pathogenic
3	37040265	G	GTTATA	C37040271T	MLH1	NM_001167617.2(MLH1):c.1345_1349dup:p.Leu451fs	coding	Pathogenic
3	37040281	AC	A	C37040283A	MLH1	NM_000249.3(MLH1):c.1656del:p.Thr553fs	coding	Pathogenic
3	37040290	C	CTAAG	T37040292A	MLH1	NM_000249.3(MLH1):c.1664_1665insAAGT:p.Ser556_Glu557insTer	coding	Pathogenic
3	37040295	GTAAATCA	ATTT	G37040295A	MLH1	NM_000249.3(MLH1):c.1667+1_1667+8delinsATTT	noncoding	Pathogenic
3	37040296	TAAATCA	ATTT	T37040296A	MLH1	NM_000249.3(MLH1):c.1667+2_1667+8delinsATTT	noncoding	Pathogenic
3	37042267	GT	G	T37042268G	MLH1	NM_001167617.2(MLH1):c.1374del:p.Ser458fs	coding	Pathogenic
3	37042275	CT	C	T37042276G	MLH1	NM_000249.4(MLH1):c.1676del:p.Leu559fs	coding	Pathogenic
3	37042279	TC	T	C37042280T	MLH1	NM_000249.3(MLH1):c.1680del:p.Tyr561fs	coding	Pathogenic
3	37042286	GAT	G	T37042288C	MLH1	NM_001167617.2(MLH1):c.1394_1395del:p.Ile465fs	coding	Pathogenic
3	37042288	TACTC	T	C37042290T	MLH1	NM_001167617.2(MLH1):c.1396_1399del:p.Leu466fs	coding	Pathogenic
3	37042288	T	TA	C37042290A	MLH1	NM_001167617.2(MLH1):c.1395dup:p.Leu466fs	coding	Pathogenic
3	37042314	GGT	G	G37042317T	MLH1	NM_000249.3(MLH1):c.1715_1716GT[1]:p.Val573fs	coding	Pathogenic
3	37042323	AG	A	G37042325T	MLH1	NM_001167617.2(MLH1):c.1431del:p.Arg477fs	coding	Pathogenic
3	37047523	C	CGT	A37047524G	MLH1	NM_000249.3(MLH1):c.1736_1737insGT:p.Pro579_Ala580insTer	coding	Pathogenic
3	37047525	GCACCGCTCTTTGAC	G	A37047527T	MLH1	NM_001354630.1(MLH1):c.1732-990_1732-977del	coding	Pathogenic
3	37047530	GCTCTTTGACCTTGC	G	T37047532A	MLH1	NM_001354630.1(MLH1):c.1732-985_1732-972del	coding	Pathogenic
3	37047531	CT	C	T37047532C	MLH1	NM_001354630.1(MLH1):c.1732-985del	coding	Pathogenic
3	37047532	TC	T	C37047533T	MLH1	NM_000249.3(MLH1):c.1746del:p.Phe583fs	coding	Pathogenic
3	37047533	CT	C	T37047536G	MLH1	NM_001354630.1(MLH1):c.1732-981del	coding	Pathogenic
3	37047533	CTT	C	T37047535G	MLH1	NM_001354630.1(MLH1):c.1732-982_1732-981del	coding	Pathogenic
3	37047543	GC	G	C37047545A	MLH1	NM_001354630.1(MLH1):c.1732-972del	coding	Pathogenic
3	37047543	G	GC	A37047546C	MLH1	NM_001354630.1(MLH1):c.1732-972dup	coding	Pathogenic
3	37047549	CT	C	T37047551G	MLH1	NM_000249.4(MLH1):c.1764del:p.Ala589fs	coding	Pathogenic
3	37047554	CT	C	T37047556A	MLH1	NM_001354630.1(MLH1):c.1732-961del	coding	Pathogenic
3	37047555	TTAGA	T	A37047559T	MLH1	NM_001354630.1(MLH1):c.1732-958_1732-955del	coding	Pathogenic
3	37047564	CCA	C	C37047565G	MLH1	NM_001354630.1(MLH1):c.1732-952_1732-951del	coding	Pathogenic
3	37047565	CAG	C	A37047570T	MLH1	NM_000249.4(MLH1):c.1783_1784del:p.Ser595fs	coding	Pathogenic
3	37047572	T	TCCAGATAGTCCAGA	G37047573C	MLH1	NM_000249.3(MLH1):c.1785_1786insCCAGATAGTCCAGA:p.Gly596fs	coding	Pathogenic
3	37047577	GG	ATCTGGACC	G37047577A	MLH1	NM_001354630.1(MLH1):c.1732-940_1732-939delinsATCTGGACC	coding	Pathogenic
3	37047582	GAGGAAGATGGTCCCAAAGA	G	A37047587C	MLH1	NM_001354630.1(MLH1):c.1732-930_1732-912del	coding	Pathogenic
3	37047596	C	CA	G37047600A	MLH1	NM_001354630.1(MLH1):c.1732-918dup	coding	Pathogenic
3	37047605	A	CTT	A37047605C	MLH1	NM_000249.3(MLH1):c.1818delinsCTT:p.Leu607fs	coding	Pathogenic
3	37047606	C	CT	G37047609T	MLH1	NM_001354630.1(MLH1):c.1732-909dup	coding	Pathogenic
3	37047610	C	CTG	A37047613T	MLH1	NM_001354630.1(MLH1):c.1732-906_1732-905dup	coding	Pathogenic
3	37047613	A	AATAC	T37047620A	MLH1	NM_001354630.1(MLH1):c.1732-901_1732-898dup	coding	Pathogenic
3	37047617	CAT	C	A37047618T	MLH1	NM_001354630.1(MLH1):c.1732-899_1732-898del	coding	Pathogenic
3	37047624	G	GAGTTTCTGAAGAAGAAGGCTGAGATGCTTGC	A37047658T	MLH1	NM_000249.4(MLH1):c.1840_1870dup:p.Asp624delinsValSerGluGluGluGlyTer	coding	Pathogenic
3	37047631	TGAA	T	A37047639G	MLH1	NM_000249.4(MLH1):c.1846_1848AAG[2]:p.Lys618del	coding	Pathogenic
3	37047638	GA	G	A37047640G	MLH1	NM_000249.4(MLH1):c.1853del:p.Lys618fs	coding	Pathogenic
3	37047638	G	GA	G37047641A	MLH1	NM_001354630.1(MLH1):c.1732-877dup	coding	Pathogenic
3	37047639	AA	GC	A37047639G	MLH1	NM_001354630.1(MLH1):c.1732-878_1732-877delinsGC	coding	Benign
3	37047640	AG	A	G37047642C	MLH1	NM_001354630.1(MLH1):c.1732-875del	coding	Pathogenic
3	37047640	A	TTCTT	A37047640T	MLH1	NM_001354630.1(MLH1):c.1732-877delinsTTCTT	coding	Pathogenic
3	37047644	TG	T	G37047645A	MLH1	NM_001354630.1(MLH1):c.1732-872del	coding	Pathogenic
3	37047651	CT	C	T37047653G	MLH1	NM_000249.4(MLH1):c.1866del:p.Ala623fs	coding	Pathogenic
3	37047654	GC	G	C37047655A	MLH1	NM_000249.4(MLH1):c.1868del:p.Ala623fs	coding	Pathogenic
3	37047661	AT	A	T37047664C	MLH1	NM_001354630.1(MLH1):c.1732-853del	coding	Pathogenic
3	37047661	ATTTCTCT	A	T37047664G	MLH1	NM_001354630.1(MLH1):c.1732-853_1732-847del	coding	Pathogenic
3	37047665	CTCTT	C	C37047667G	MLH1	NM_001354630.1(MLH1):c.1732-850_1732-847del	coding	Pathogenic
3	37047670	TGGAAA	T	G37047671T	MLH1	NM_000249.4(MLH1):c.1884_1888del:p.Leu628fs	coding	Pathogenic
3	37047675	A	AT	G37047678T	MLH1	NM_000249.3(MLH1):c.1890dup:p.Asp631Ter	coding	Pathogenic
3	37047679	AT	A	T37047680G	MLH1	NM_001354630.1(MLH1):c.1732-837del	coding	Pathogenic
3	37048519	AG	A	G37048522A	MLH1	NM_001258271.1(MLH1):c.1896+839del	coding	Pathogenic
3	37048522	G	GA	C37048525A	MLH1	NM_001258271.1(MLH1):c.1896+841dup	coding	Pathogenic
3	37048524	ACCTGATTGGATTAC	A	T37048527C	MLH1	NM_000249.3(MLH1):c.1907_1920del:p.Leu636fs	coding	Pathogenic/Likely_pathogenic
3	37048530	T	TTGGATTACCCCTTC	A37048547G	MLH1	NM_001258271.1(MLH1):c.1896+850_1896+863dup	coding	Pathogenic
3	37048531	TG	T	G37048533A	MLH1	NM_000249.4(MLH1):c.1913del:p.Gly638fs	coding	Pathogenic
3	37048533	G	GATTACCCCTTCTGATTGACAACTATGTGC	C37048563A	MLH1	NM_001258271.1(MLH1):c.1896+851_1896+879dup	coding	Pathogenic
3	37048534	A	AT	A37048537T	MLH1	NM_001258271.1(MLH1):c.1896+853dup	coding	Pathogenic
3	37048540	C	CT	C37048541T	MLH1	NM_000249.3(MLH1):c.1920_1921insT:p.Leu641fs	coding	Pathogenic
3	37048541	CT	C	T37048543C	MLH1	NM_001258271.1(MLH1):c.1896+860del	coding	Pathogenic
3	37048547	AT	A	T37048549G	MLH1	NM_000249.4(MLH1):c.1929del:p.Ile643fs	coding	Pathogenic
3	37048549	TG	T	G37048550A	MLH1	NM_001258271.1(MLH1):c.1896+867del	coding	Pathogenic
3	37048557	A	ATGTGCCCC	C37048566T	MLH1	NM_001258271.1(MLH1):c.1896+875_1896+882dup	coding	Pathogenic/Likely_pathogenic
3	37048561	GC	G	C37048566T	MLH1	NM_001258271.1(MLH1):c.1896+883del	coding	Pathogenic
3	37048569	TGGAG	T	G37048573C	MLH1	NM_001258271.1(MLH1):c.1896+890_1896+893del	coding	Pathogenic
3	37048575	GAC	G	A37048576T	MLH1	NM_000249.3(MLH1):c.1956_1957del:p.Leu653fs	coding	Pathogenic
3	37048588	C	CA	T37048590A	MLH1	NM_000249.4(MLH1):c.1969dup:p.Ile657fs	coding	Pathogenic
3	37048589	AT	A	T37048591C	MLH1	NM_001258271.1(MLH1):c.1896+908del	coding	Pathogenic
3	37048594	TCG	T	C37048595A	MLH1	NM_001258271.1(MLH1):c.1896+912_1896+913del	coding	Pathogenic
3	37048595	CGA	C	G37048596C	MLH1	NM_001258271.1(MLH1):c.1896+913_1896+914del	coding	Pathogenic
3	37048606	TGAGG	C	T37048606C	MLH1	NM_000249.3(MLH1):c.1986_1989+1delinsC	coding	Pathogenic
3	37048607	GA	G	A37048608G	MLH1	NM_001258271.1(MLH1):c.1896+925del	coding	Pathogenic
3	37048913	G	GA	C37048915A	MLH1	NM_001258271.1(MLH1):c.1896+1231dup	coding	Pathogenic
3	37048916	GAAGAA	G	A37048920G	MLH1	NM_001258271.1(MLH1):c.1896+1237_1896+1241del	coding	Pathogenic
3	37048919	GA	G	A37048923G	MLH1	NM_001258271.1(MLH1):c.1896+1240del	coding	Pathogenic
3	37048919	G	GA	G37048924A	MLH1	NM_000249.4(MLH1):c.2009dup:p.Glu671fs	coding	Pathogenic
3	37048920	AAAAGG	A	A37048923T	MLH1	NM_001258271.1(MLH1):c.1896+1240_1896+1244del	coding	Pathogenic
3	37048925	G	GA	T37048928A	MLH1	NM_000249.4(MLH1):c.2013dup:p.Cys672fs	coding	Pathogenic
3	37048943	A	AG	T37048945G	MLH1	NM_000249.4(MLH1):c.2030dup:p.Ser677fs	coding	Pathogenic
3	37048956	CTA	C	A37048958G	MLH1	NM_000249.3(MLH1):c.2044_2045del:p.Met682fs	coding	Pathogenic
3	37048971	TC	T	C37048973G	MLH1	NM_000249.3(MLH1):c.2059del:p.Arg687fs	coding	Pathogenic
3	37048979	CAGTACAT	C	G37048981T	MLH1	NM_001258271.1(MLH1):c.1896+1298_1896+1304del	coding	Pathogenic
3	37048984	C	CTT	A37048985T	MLH1	NM_000249.3(MLH1):c.2070_2071insTT:p.Ile691fs	coding	Pathogenic/Likely_pathogenic
3	37048985	A	AG	T37048986G	MLH1	NM_000249.4(MLH1):c.2071_2072insG:p.Ile691fs	coding	Pathogenic
3	37048989	CTGAGGAGTCGACCCTCTCAGGCCAGCAGGTACAGTGGTGATGCACACTGGCACCCCAGGACTAGGACAGGACCTCATACAATCTTTAGGAGATGAAACTTGCCCATCTCTAAAATTTCGGGATTTCTTTGTACCCAACAAGGTTCAAACACAACAGTCAGCTTTTATTCATGATTTTTACTTCCATCTGCTGATGTAGAACATACCTCCAGAGTGACCTCAGAAATTGTCAAATGTGAAAACACAAGCCATCACAGTGAGAAATGGGAGGTTGAGTTAGATTGTCTAAGGCTGGAGAGTCCATATACTCCCACTGTTAGCTCTGAAGTGTGTAGCCAGTCTTCAGATTCTGGGTCAGTTGCCTCAGTCTCTCTTAGCTTTTGCCTTACTCTTTATCCGACCACTGCCCTGCCAGGAAAACAAGGCTCTATAACTCCTCTTACAGGTCAGCTTGACACAAAAAGGGTGCCTGGATTCCTAATGTTTCATTGTCACTTTTCCCAGTCAGATGATAATGCTTTTCAAATCAACATATATTTTGGGGGAGGTTGGAAGGGAGAGTTGAAATATTCTAAGAATCAAAGAGTAGCCCACTTTAATCAGAGTATGACCCCTGATTGCTCACAGTCATCTCCTGAGCAGTGTGAGCGAGTTTCAGATGAGGAGGCTGAAGGCCAGTCAGGCATGCTCGAGGATTCCAAGTCTGTAGGTGGGAGGGCAGAGATTTAGTCCTGTTGGCCAAAGCCTCTAGGGAATTTCTCACTCCAGTGGAGAAGGCAACACACTTACCAAACTGTGTGGAAACTATCTCATTTGATTAGAAATTTTACCTCAAGAAGAGGAAGGACAGTTGAGAAAGAACATTTTCTTACACATGAGACAGCTAAGGCTTACAAGAAGGAGAGGAATAATGAGGCAAAATAATCCTCATTAATATTTTCATTCCTCCCCTGGGGATTAGAACTACTTTCAGACCCGATTTTAATGGTAAGTTAGGTACTTCCTACAGTTGCCATCCAAATATCAGTCAGGATCAGACATGATGTTAGCTCCTGCTACAATAAAACCATTTTCTCCCTGAATGAAAACAAAGGTTCCACAGGAGACAGTCCCACAGAGCAGTGGCTTCTTTTCCTCCCTTTAAAACCTCATGTTGGCTGGACACAGTGGCTCACACCTGTAATCCCAGCATTTTAGGAGGCTGAGGTGGGAAGATGGCTTAAGCCCAGGAGTTTGAGGCTGTAGAGCTATGATCACACCACTGCCCTTCAGCCTGGGTGACAGAGCAAGACCTTGTCTCTAAATAAACAAACAAACAAAAAATCCTCTTGTGTTCAGGCCTGTGGGATCCCCTGAGAGGCTAGCCCACAAGATCCACTTCAAAAGCCCTAGATAACACCAAGTCTTTCCAGACCCAGTGCACATCCCATCAGCCAGGACACCAGTGTATGTTGGGATGCAAACAGGGAGGCTTATGACATCTAATGTGTTTTCCAGAGTGAAGTGCCTGGCTCCATTCCAAACTCCTGGAAGTGGACTGTGGAACACATTGTCTATAAAGCCT	C	A37048992C	MLH1	NM_000249.3(MLH1):c.2078_2172del:p.Glu693fs	coding	Pathogenic
3	37048989	CTG	C	T37048990A	MLH1	NM_001258271.1(MLH1):c.1896+1307_1896+1308del	coding	Pathogenic
3	37048990	TG	T	G37048991A	MLH1	NM_000249.4(MLH1):c.2077del:p.Glu693fs	coding	Pathogenic
3	37048992	A	AG	A37048995G	MLH1	NM_001258271.1(MLH1):c.1896+1311dup	coding	Pathogenic
3	37049000	AC	A	C37049003T	MLH1	NM_001258271.1(MLH1):c.1896+1320del	coding	Pathogenic
3	37049002	CCT	C	T37049006A	MLH1	NM_001258271.1(MLH1):c.1896+1323_1896+1324del	coding	Pathogenic
3	37049012	CAGCA	C	A37049013G	MLH1	NM_001258271.1(MLH1):c.1896+1330_1896+1333del	coding	Pathogenic
3	37050483	CAG	C	A37050486T	MLH1	NM_000249.3(MLH1):c.2104_2105delAG	noncoding	Pathogenic
3	37050486	AGTGAAGTGCC	A	G37050487T	MLH1	NM_001167617.2(MLH1):c.1811_1820del:p.Ser604fs	coding	Pathogenic
3	37050491	A	AG	T37050493G	MLH1	NM_000249.4(MLH1):c.2110dup:p.Val704fs	coding	Pathogenic
3	37050491	AGTGCCTG	A	T37050493C	MLH1	NM_001167617.2(MLH1):c.1817_1823del:p.Val606fs	coding	Pathogenic
3	37050516	TG	T	G37050518A	MLH1	NM_000249.3(MLH1):c.2136del:p.Ser711_Trp712insTer	coding	Pathogenic
3	37050526	CTG	C	T37050529G	MLH1	NM_000249.3(MLH1):c.2145_2146TG[1]:p.Val716fs	coding	Pathogenic
3	37050529	TGG	T	G37050530A	MLH1	NM_000249.4(MLH1):c.2148_2149del:p.Glu717fs	coding	Pathogenic
3	37050530	G	GGAACACATTGTCTATAAAGCCTTGCGCTCACACATTCTGCCTCCTAA	A37050578G	MLH1	NM_001167617.2(MLH1):c.1855_1901dup:p.His635fs	coding	Pathogenic
3	37050532	A	AAC	T37050538C	MLH1	NM_001167617.2(MLH1):c.1858_1859CA[3]:p.Ile621fs	coding	Pathogenic
3	37050532	AAC	A	C37050536T	MLH1	NM_000249.3(MLH1):c.2152_2153CA[1]:p.Ile719fs	coding	Pathogenic
3	37050537	A	AT	G37050540T	MLH1	NM_001167617.2(MLH1):c.1863dup:p.Val622fs	coding	Pathogenic
3	37050540	G	GTCTATAAAGCCTTGCGCTCACACATTCTGCC	C37050574T	MLH1	NM_000249.3(MLH1):c.2161_2191dup:p.Pro731delinsLeuTer	coding	Pathogenic
3	37050544	ATAAAGCCTTGCGCTC	T	A37050544T	MLH1	NM_000249.4(MLH1):c.2162_2177delinsT:p.Tyr721_Ser726delinsLeu	coding	Pathogenic
3	37050558	TCACA	T	C37050561T	MLH1	NM_000249.3(MLH1):c.2177_2178CA[1]:p.His727fs	coding	Pathogenic
3	37050558	TCA	T	C37050563T	MLH1	NM_001167617.2(MLH1):c.1883_1884CA[2]:p.Ile630fs	coding	Pathogenic
3	37050571	CT	C	T37050572C	MLH1	NM_000249.3(MLH1):c.2190del:p.Pro731fs	coding	Pathogenic
3	37050575	T	TAAAC	T37050581A	MLH1	NM_001167617.2(MLH1):c.1901_1904dup:p.His635fs	coding	Pathogenic
3	37050595	G	GAAAT	T37050601A	MLH1	NM_000249.3(MLH1):c.2215_2218dup:p.Ile740fs	coding	Pathogenic
3	37050599	T	TA	T37050601A	MLH1	NM_001167617.2(MLH1):c.1924dup:p.Ile642fs	coding	Pathogenic
3	37050604	TGCAGCTTGCTA	T	G37050605A	MLH1	NM_001167617.2(MLH1):c.1929_1939del:p.Gln644fs	coding	Pathogenic
3	37050605	GC	G	C37050606A	MLH1	NM_001167617.2(MLH1):c.1930del:p.Gln644fs	coding	Pathogenic
3	37050616	A	AC	T37050619C	MLH1	NM_000249.3(MLH1):c.2236dup:p.Leu746fs	coding	Pathogenic
3	37050630	T	TA	C37050632A	MLH1	NM_000249.3(MLH1):c.2249dup:p.Tyr750Ter	coding	Pathogenic
3	37050631	ACAAAGT	A	A37050633T	MLH1	NM_000249.4(MLH1):c.2251_2256del:p.Lys751_Val752del	coding	Pathogenic
3	37050632	CAA	C	A37050634G	MLH1	NM_001167617.2(MLH1):c.1958_1959del:p.Lys653fs	coding	Pathogenic
3	37050632	CA	C	A37050635G	MLH1	NM_000249.3(MLH1):c.2253del:p.Val752fs	coding	Pathogenic/Likely_pathogenic
3	37050638	CT	C	T37050641G	MLH1	NM_000249.3(MLH1):c.2259del:p.Phe753fs	coding	Pathogenic/Likely_pathogenic
3	37050641	TGA	T	A37050645G	MLH1	NM_000249.4(MLH1):c.2261_2262AG[1]:p.Arg755fs	coding	Pathogenic
3	37050647	G	GTGTT	A37050652T	MLH1	NM_001167617.2(MLH1):c.1972_1975dup:p.Ter659LeuextTer?	coding	Pathogenic
3	37050649	G	GT	A37050652T	MLH1	NM_001167617.2(MLH1):c.1975dup:p.Ter659LeuextTer?	coding	Pathogenic
3	37050682	GTTC	G	C37050688T	MLH1	NM_001167617.2(MLH1):c.*32_*34CTT[1]	noncoding	Benign
3	38008631	GGGCCACTACA	G	C38008635A	PLCD1	NM_006225.4(PLCD1):c.1724-5_1728del	coding	Pathogenic
3	38138670	CGACCGCGCTGAGGCTCCAG	C	G38138677C	MYD88	NM_002468.5(MYD88):c.-24_-6del	coding	Pathogenic
3	38138852	CGGA	C	G38138857A	MYD88	NM_002468.5(MYD88):c.154_156GAG[1]:p.Glu53del	coding	Pathogenic/Likely_pathogenic
3	38484675	CAA	C	A38484678C	ACVR2B	NM_001106.4(ACVR2B):c.*1346_*1347del	noncoding	Benign
3	38492642	T	TA	T38492651A	ACVR2B	NM_001106.4(ACVR2B):c.*9318dup	noncoding	Benign
3	38550877	TG	T	G38550879T	SCN5A	NM_000335.5(SCN5A):c.5491del:p.Gln1831fs	coding	Pathogenic
3	38550904	TCAGA	T	A38550908G	SCN5A	NM_198056.2(SCN5A):c.5464_5467del:p.Glu1823fs	coding	Pathogenic/Likely_pathogenic
3	38550909	CAG	C	A38550910G	SCN5A	NM_000335.4(SCN5A):c.5458_5459del:p.Leu1820fs	coding	Pathogenic/Likely_pathogenic
3	38550951	CTGAG	C	A38550954G	SCN5A	NM_198056.2(SCN5A):c.5417_5420del:p.Thr1806fs	coding	Pathogenic
3	38550984	C	CTCA	A38550989C	SCN5A	NM_000335.4(SCN5A):c.5382_5384dup:p.Glu1795_Ile1796insAsp	coding	Pathogenic
3	38550986	CAT	C	T38550988G	SCN5A	NM_000335.4(SCN5A):c.5381_5382del:p.Phe1793_Tyr1794insTer	coding	Pathogenic
3	38550990	GA	G	A38550992C	SCN5A	NM_000335.5(SCN5A):c.5378del:p.Phe1793fs	coding	Pathogenic
3	38551007	CCTCA	C	C38551012G	SCN5A	NM_000335.4(SCN5A):c.5354_5357TGAG[1]:p.Ser1786fs	coding	Pathogenic
3	38551240	GC	G	C38551242G	SCN5A	NM_000335.4(SCN5A):c.5128del:p.Ala1710fs	coding	Pathogenic
3	38551519	GAGA	G	A38551525T	SCN5A	NM_198056.2(SCN5A):c.4850_4852del	coding	Pathogenic/Likely_pathogenic
3	38551525	AAG	TAC	A38551525T	SCN5A	NM_000335.4(SCN5A):c.4842_4844delinsGTA:p.Tyr1614_Phe1615delinsTer	coding	Pathogenic
3	38554434	CT	C	T38554437G	SCN5A	NM_000335.4(SCN5A):c.4654del:p.Ser1552fs	coding	Pathogenic
3	38554475	G	GCAGAT	A38554485T	SCN5A	NM_000335.4(SCN5A):c.4609_4613dup:p.Cys1538Ter	coding	Pathogenic
3	38555670	TGGGCTTCTG	T	G38555679T	SCN5A	NM_000335.4(SCN5A):c.4516_4524del:p.Gln1506_Pro1508del	coding	Pathogenic
3	38555725	CT	C	T38555726G	SCN5A	NM_000335.4(SCN5A):c.4469del:p.Gln1490fs	coding	Pathogenic
3	38556454	TG	T	G38556456T	SCN5A	NM_000335.4(SCN5A):c.4420del:p.Gln1474fs	coding	Pathogenic
3	38556493	AG	A	G38556496T	SCN5A	NM_000335.4(SCN5A):c.4381del:p.Thr1460_Leu1461insTer	coding	Pathogenic
3	38557285	CT	C	T38557286G	SCN5A	NM_198056.2(SCN5A):c.4246-2del	noncoding	Pathogenic
3	38560201	CT	C	T38560203G	SCN5A	NM_000335.4(SCN5A):c.4187del:p.Lys1396fs	coding	Pathogenic
3	38560209	AG	A	G38560210T	SCN5A	NM_000335.5(SCN5A):c.4179del:p.Trp1394fs	coding	Pathogenic
3	38560264	G	GGT	A38560269G	SCN5A	NM_000335.5(SCN5A):c.4123_4124dup:p.Ile1376fs	coding	Pathogenic
3	38560392	TGGACG	T	C38560396T	SCN5A	NM_198056.2(SCN5A):c.3995_3999del:p.Pro1332fs	coding	Pathogenic/Likely_pathogenic
3	38560396	CG	C	G38560399A	SCN5A	NM_000335.4(SCN5A):c.3992del:p.Pro1331fs	coding	Pathogenic
3	38560427	ACCT	A	C38560429A	SCN5A	NM_198056.2(SCN5A):c.3964-2_3964del	coding	Pathogenic
3	38562501	AG	A	G38562502C	SCN5A	NM_000335.4(SCN5A):c.3873del:p.Phe1292fs	coding	Pathogenic
3	38562529	CAG	C	G38562535C	SCN5A	NM_000335.5(SCN5A):c.3840_3841CT[2]:p.Leu1282fs	coding	Pathogenic
3	38575326	AGAT	A	T38575332A	SCN5A	NM_000335.4(SCN5A):c.3628_3630ATC[1]:p.Ile1211del	coding	Pathogenic
3	38575364	T	TG	T38575367G	SCN5A	NM_000335.5(SCN5A):c.3595dup:p.His1199fs	coding	Pathogenic
3	38575444	GAC	G	C38575448G	SCN5A	NM_000335.5(SCN5A):c.3514_3515del:p.Val1172fs	coding	Pathogenic
3	38576680	T	TG	T38576684G	SCN5A	NM_000335.4(SCN5A):c.3488dup:p.Glu1164fs	coding	Pathogenic
3	38579461	GC	G	C38579463T	SCN5A	NM_001160161.1(SCN5A):c.3228+1469del	coding	Pathogenic
3	38579476	GA	G	A38579477C	SCN5A	NM_198056.2(SCN5A):c.3247del:p.Ser1083fs	coding	Pathogenic/Likely_pathogenic
3	38581005	CCACAGCGATGGG	ACACAGTCAGA	C38581005A	SCN5A	NM_000335.4(SCN5A):c.3142_3154delinsTCTGACTGTGT:p.Pro1048fs	coding	Pathogenic
3	38581006	CACAGCGATGGG	ACACAGTCAGA	C38581006A	SCN5A	NM_198056.2(SCN5A):c.3142_3153delinsTCTGACTGTGT:p.Pro1048fs	coding	Pathogenic
3	38581047	T	GGG	T38581047G	SCN5A	NM_000335.4(SCN5A):c.3112delinsCCC:p.Thr1038fs	coding	Pathogenic
3	38581077	AC	A	C38581079G	SCN5A	NM_000335.4(SCN5A):c.3081del:p.Phe1028fs	coding	Pathogenic
3	38581117	T	TGGGGGTGGCGGGGAGTA	A38581144G	SCN5A	NM_000335.5(SCN5A):c.3025_3041dup:p.Glu1015fs	coding	Pathogenic
3	38581136	GGGGTGGCAATGCA	G	G38581138C	SCN5A	NM_000335.4(SCN5A):c.3010_3022del:p.Cys1004fs	coding	Pathogenic/Likely_pathogenic
3	38581258	CT	C	T38581259G	SCN5A	NM_000335.5(SCN5A):c.2900del:p.Gln967fs	coding	Pathogenic
3	38581298	CT	C	T38581299G	SCN5A	NM_000335.5(SCN5A):c.2860del:p.Arg954fs	coding	Pathogenic
3	38581337	GA	TT	G38581337T	SCN5A	NM_000335.4(SCN5A):c.2821_2822delinsAA:p.Ser941Asn	coding	Pathogenic
3	38585673	GGCCCT	G	G38585674T	SCN5A	NM_198056.2(SCN5A):c.2787+13_2787+17del	noncoding	Benign
3	38585735	AT	A	T38585736A	SCN5A	NM_000335.5(SCN5A):c.2742del:p.Leu914fs	coding	Pathogenic
3	38585772	G	GGT	C38585775G	SCN5A	NM_000335.4(SCN5A):c.2704_2705dup:p.Met903fs	coding	Pathogenic
3	38585894	CAA	C	A38585896G	SCN5A	NM_000335.4(SCN5A):c.2582_2583del:p.Phe861fs	coding	Pathogenic
3	38585901	CT	C	T38585902G	SCN5A	NM_000335.5(SCN5A):c.2576del:p.Gln859fs	coding	Pathogenic
3	38585926	A	AAC	G38585931A	SCN5A	NM_000335.4(SCN5A):c.2548_2549GT[3]:p.Phe851fs	coding	Pathogenic
3	38585944	AC	A	C38585946A	SCN5A	NM_000335.4(SCN5A):c.2533del:p.Val845fs	coding	Pathogenic/Likely_pathogenic
3	38586167	T	TCC	G38586176C	SCN5A	NM_000335.4(SCN5A):c.2437-134_2437-133dup	noncoding	Benign
3	38586167	T	TC	G38586176C	SCN5A	NM_000335.4(SCN5A):c.2437-134dup	noncoding	Benign
3	38587492	TC	T	C38587494A	SCN5A	NM_000335.4(SCN5A):c.2343del:p.Gly780_Trp781insTer	coding	Pathogenic
3	38587501	G	GTTGGAAA	G38587508A	SCN5A	NM_198056.2(SCN5A):c.2334_2335insTTTCCAA:p.Gln779fs	coding	Pathogenic
3	38587537	T	TG	A38587539G	SCN5A	NM_000335.5(SCN5A):c.2298dup:p.Lys767fs	coding	Pathogenic
3	38597804	GAGT	G	G38597806C	SCN5A	NM_198056.2(SCN5A):c.2184_2186del:p.Leu729del	coding	Pathogenic
3	38597887	GC	G	C38597888G	SCN5A	NM_000335.4(SCN5A):c.2103del:p.Leu702fs	coding	Pathogenic/Likely_pathogenic
3	38599004	TG	T	G38599007A	SCN5A	NM_198056.2(SCN5A):c.1936del:p.Gln646fs	coding	Pathogenic
3	38603848	TG	T	G38603850C	SCN5A	NM_000335.4(SCN5A):c.1753del:p.His585fs	coding	Pathogenic
3	38603890	CT	C	T38603891G	SCN5A	NM_000335.4(SCN5A):c.1711del:p.Ser571fs	coding	Pathogenic
3	38603988	AC	A	C38603991A	SCN5A	NM_000335.4(SCN5A):c.1613del:p.Gly538fs	coding	Pathogenic/Likely_pathogenic
3	38604017	TGC	T	G38604018T	SCN5A	NM_000335.4(SCN5A):c.1583_1584del:p.Ser528fs	coding	Pathogenic
3	38604815	TCTTG	T	G38604819C	SCN5A	NM_000335.4(SCN5A):c.1428_1431del:p.Ser476fs	coding	Pathogenic/Likely_pathogenic
3	38606062	C	CTATG	A38606063T	SCN5A	NM_000335.5(SCN5A):c.1226_1227insCATA:p.Ala410fs	coding	Pathogenic
3	38606705	CA	C	A38606706G	SCN5A	NM_000335.5(SCN5A):c.1103del:p.Leu368fs	coding	Pathogenic
3	38613743	CT	C	T38613744G	SCN5A	NM_000335.5(SCN5A):c.702del:p.Gly235_Leu236insTer	coding	Pathogenic
3	38620838	C	CTT	A38620841T	SCN5A	NM_198056.2(SCN5A):c.611+3_611+4dup	noncoding	Pathogenic
3	38620877	AT	A	T38620878G	SCN5A	NM_000335.5(SCN5A):c.576del:p.Trp193fs	coding	Pathogenic
3	38630453	GC	AT	G38630453A	SCN5A	NM_198056.2(SCN5A):c.274-25_274-24delinsAT	noncoding	Benign
3	38633118	GC	G	C38633119T	SCN5A	NM_000335.5(SCN5A):c.189del:p.Lys63fs	coding	Pathogenic
3	38633176	CT	C	T38633177C	SCN5A	NM_000335.5(SCN5A):c.131del:p.Glu44fs	coding	Pathogenic
3	38633203	GC	G	C38633205G	SCN5A	NM_198056.2(SCN5A):c.104del:p.Gly35fs	coding	Pathogenic
3	38633204	CCG	C	C38633207G	SCN5A	NM_198056.2(SCN5A):c.102_103del	coding	Pathogenic
3	38633250	AC	A	C38633251T	SCN5A	NM_000335.4(SCN5A):c.57del:p.Glu19fs	coding	Pathogenic
3	38946916	C	CA	C38946925A	SCN11A	NM_001349253.2(SCN11A):c.268-17dup	noncoding	Benign
3	39131074	TG	T	G39131075T	TTC21A	NM_145755.2(TTC21A):c.2563del:p.Ala854_Val855insTer	coding	Pathogenic
3	39397153	AT	A	T39397162C	SLC25A38	NM_017875.4(SLC25A38):c.*642del	noncoding	Benign
3	39411738	G	GGTCAT	C39411745T	RPSA	NM_002295.6(RPSA):c.590_594dup:p.Pro199fs	coding	Pathogenic
3	40462029	A	ACTGCTGCTGCTGCTG	A40462062G	RPL14	NM_001034996.3(RPL14):c.448_450GCT[15]:p.Ala155_Ala159dup	coding	Benign
3	40462029	A	ACTGCTGCTGCTGCTGCTG	A40462062G	RPL14	NM_001034996.3(RPL14):c.448_450GCT[16]:p.Ala154_Ala159dup	coding	Benign
3	41224719	A	AT	C41224724T	CTNNB1	NM_001904.4(CTNNB1):c.211dup:p.Ser71fs	coding	Pathogenic
3	41224995	CGAGCTGCTAT	C	A41224997T	CTNNB1	NM_001904.4(CTNNB1):c.285_294del:p.Ala96fs	coding	Pathogenic
3	41225017	CA	C	A41225018T	CTNNB1	NM_001904.4(CTNNB1):c.306del:p.Thr102_Leu103insTer	coding	Pathogenic
3	41225138	T	TCAAGATGATGCAGAACTTGCCACACGTGCAATCCCTGAACTGAC	A41225183C	CTNNB1	NM_001904.4(CTNNB1):c.427_470dup:p.Leu159_Leu160insMetMetGlnAsnLeuProHisValGlnSerLeuAsnTerLys	coding	Pathogenic
3	41225179	T	TG	A41225181G	CTNNB1	NM_001904.4(CTNNB1):c.468dup:p.Thr157fs	coding	Pathogenic
3	41225375	TA	T	A41225380G	CTNNB1	NM_001904.4(CTNNB1):c.542del:p.Lys181fs	coding	Pathogenic
3	41225392	GA	G	A41225393C	CTNNB1	NM_001904.4(CTNNB1):c.555del:p.Arg185fs	coding	Pathogenic
3	41225542	G	GA	G41225544A	CTNNB1	NM_001904.4(CTNNB1):c.705dup:p.Gly236fs	coding	Pathogenic
3	41225697	ACT	A	T41225701C	CTNNB1	NM_001904.4(CTNNB1):c.774_775TC[1]:p.Leu259fs	coding	Pathogenic
3	41225714	AT	A	T41225716A	CTNNB1	NM_001904.4(CTNNB1):c.791del:p.Leu264fs	coding	Pathogenic
3	41225728	GA	G	A41225729G	CTNNB1	NM_001904.4(CTNNB1):c.804del:p.Ala269fs	coding	Pathogenic
3	41225731	CT	C	T41225732A	CTNNB1	NM_001904.4(CTNNB1):c.807del:p.Met271fs	coding	Pathogenic
3	41225732	TA	T	A41225736T	CTNNB1	NM_001904.4(CTNNB1):c.811del:p.Met271fs	coding	Pathogenic
3	41225790	ACA	CC	A41225790C	CTNNB1	NM_001904.4(CTNNB1):c.865_867delinsCC:p.Thr289fs	coding	Pathogenic
3	41225800	AATTCTTG	A	A41225801G	CTNNB1	NM_001904.4(CTNNB1):c.876_882del:p.Phe293fs	coding	Pathogenic
3	41225848	AC	A	C41225850A	CTNNB1	NM_001904.4(CTNNB1):c.925del:p.Gln309fs	coding	Pathogenic
3	41227212	TC	T	C41227213A	CTNNB1	NM_001904.4(CTNNB1):c.942del:p.Ile315fs	coding	Pathogenic
3	41227228	T	TG	A41227231G	CTNNB1	NM_001904.4(CTNNB1):c.959dup:p.Pro321fs	coding	Pathogenic
3	41227251	TAA	T	A41227252T	CTNNB1	NM_001904.4(CTNNB1):c.981_982del:p.Met328fs	coding	Pathogenic
3	41227268	T	TA	C41227270A	CTNNB1	NM_001904.4(CTNNB1):c.998dup:p.Tyr333Ter	coding	Pathogenic
3	41227309	GCTAT	G	A41227312G	CTNNB1	NM_001904.4(CTNNB1):c.1041_1044del:p.Val349fs	coding	Pathogenic
3	41227312	ATC	A	C41227314G	CTNNB1	NM_001904.4(CTNNB1):c.1043_1044del:p.Ser348fs	coding	Pathogenic
3	41233398	ACTGTCTTT	A	C41233399G	CTNNB1	NM_001904.4(CTNNB1):c.1140_1147del:p.Asn380fs	coding	Pathogenic
3	41233415	AG	A	G41233417A	CTNNB1	NM_001904.4(CTNNB1):c.1158del:p.Asn387fs	coding	Pathogenic
3	41233603	AG	A	G41233604C	CTNNB1	NM_001904.4(CTNNB1):c.1261del:p.Ala421fs	coding	Pathogenic
3	41233610	ATTCT	A	T41233615A	CTNNB1	NM_001904.4(CTNNB1):c.1268_1271TTCT[1]:p.Ser425fs	coding	Pathogenic
3	41233694	GTCCT	G	C41233697G	CTNNB1	NM_001904.4(CTNNB1):c.1354_1357del:p.Leu452fs	coding	Pathogenic
3	41233697	CT	G	C41233697G	CTNNB1	NM_001904.4(CTNNB1):c.1354_1355delinsG:p.Leu452fs	coding	Pathogenic
3	41233777	A	AC	G41233778C	CTNNB1	NM_001904.4(CTNNB1):c.1434_1435insC:p.Glu479fs	coding	Pathogenic
3	41233836	T	TA	C41233838A	CTNNB1	NM_001904.4(CTNNB1):c.1494dup:p.His499fs	coding	Pathogenic
3	41234188	C	CT	A41234189T	CTNNB1	NM_001904.4(CTNNB1):c.1574_1575insT:p.Pro526fs	coding	Pathogenic
3	41235807	T	TA	T41235809A	CTNNB1	NM_001904.4(CTNNB1):c.1768dup:p.Ile590fs	coding	Pathogenic
3	41236413	A	AG	A41236416G	CTNNB1	NM_001904.4(CTNNB1):c.1870dup:p.Asp624fs	coding	Pathogenic
3	41236467	CAG	C	A41236470T	CTNNB1	NM_001904.4(CTNNB1):c.1923_1924AG[1]:p.Glu642fs	coding	Pathogenic
3	41236600	C	CTG	C41236603T	CTNNB1	NM_001904.4(CTNNB1):c.1968_1969dup:p.Ala657fs	coding	Pathogenic
3	41236605	GT	G	T41236609G	CTNNB1	NM_001904.4(CTNNB1):c.1976del:p.Leu659fs	coding	Pathogenic
3	41238050	G	GA	G41238052A	CTNNB1	NM_001904.4(CTNNB1):c.2112dup:p.Glu705fs	coding	Pathogenic
3	41238054	A	AC	T41238059C	CTNNB1	NM_001904.4(CTNNB1):c.2119dup:p.Leu707fs	coding	Pathogenic
3	41239137	C	CTAGCTATCGTTCTTTT	C41239154T	CTNNB1	NM_001904.4(CTNNB1):c.2142_2157dup:p.His720Ter	coding	Pathogenic
3	42201036	CAG	C	A42201039G	TRAK1	NM_001042646.3(TRAK1):c.1410_1411AG[1]:p.Glu471fs	coding	Pathogenic
3	42209780	T	TC	A42209782C	TRAK1	NM_001042646.3(TRAK1):c.1759dup:p.His587fs	coding	Pathogenic/Likely_pathogenic
3	42686159	ATC	A	T42686162C	KLHL40	NM_152393.4(KLHL40):c.544_545del:p.Ser182fs	coding	Pathogenic
3	42686247	AG	A	G42686249C	KLHL40	NM_152393.4(KLHL40):c.631del:p.Ala211fs	coding	Pathogenic
3	42686434	G	GA	G42686437A	KLHL40	NM_152393.4(KLHL40):c.818dup:p.Lys275fs	coding	Pathogenic
3	42691888	CGAG	C	G42691895A	KLHL40	NM_152393.4(KLHL40):c.1762_1764GAG[2]:p.Glu590del	coding	Benign
3	43080428	ACCAG	A	A43080431G	POMGNT2	NM_032806.6(POMGNT2):c.1000_1003del:p.Leu334fs	coding	Pathogenic
3	43555341	TA	T	A43555343G	ANO10	NM_018075.5(ANO10):c.1604del:p.Ala534_Leu535insTer	coding	Pathogenic
3	43555394	C	CT	A43555396T	ANO10	NM_018075.5(ANO10):c.1551dup:p.Ala518fs	coding	Pathogenic
3	43576702	TAA	T	A43576706C	ANO10	NM_018075.5(ANO10):c.1150_1151del:p.Leu384fs	coding	Pathogenic
3	43605720	C	CT	A43605730T	ANO10	NM_018075.5(ANO10):c.132dup:p.Asp45fs	coding	Pathogenic
3	43605756	CT	C	T43605759G	ANO10	NM_018075.5(ANO10):c.96del:p.Glu33fs	coding	Pathogenic
3	43691032	GGA	G	A43691038G	ABHD5	NM_016006.6(ABHD5):c.42_43AG[2]:p.Arg16fs	coding	Pathogenic
3	43711789	TTTGG	T	T43711790A	ABHD5	NM_016006.6(ABHD5):c.588_591del:p.Trp197fs	coding	Pathogenic
3	43711795	T	TC	A43711797C	ABHD5	NM_016006.6(ABHD5):c.594dup:p.Arg199fs	coding	Pathogenic
3	43715014	T	TA	C43715016A	ABHD5	NM_016006.6(ABHD5):c.730dup:p.Thr244fs	coding	Pathogenic/Likely_pathogenic
3	43719876	ATAG	A	A43719878G	ABHD5	NM_016006.6(ABHD5):c.*1346_*1348del	noncoding	Benign
3	44242333	T	TCGTCAGACC	C44242345T	TOPAZ1	NM_001145030.2(TOPAZ1):c.283_291dup:p.Ser95_Pro97dup	coding	Benign
3	45485748	GT	G	T45485750A	LARS2	NM_015340.4(LARS2):c.1077del:p.Ile360fs	coding	Pathogenic
3	45486013	G	GATT	A45486015T	LARS2	NM_015340.4(LARS2):c.1123+218_1123+219insTTA	noncoding	Benign
3	45833099	GGCTTT	G	C45833101T	LZTFL1	NM_020347.4(LZTFL1):c.402_406del:p.Pro136fs	coding	Pathogenic
3	45918507	TA	T	A45918509T	FYCO1	NM_024513.4(FYCO1):c.*3257del	noncoding	Benign
3	45955330	A	AATTCC	T45955336A	FYCO1	NM_024513.4(FYCO1):c.3858_3862dup:p.Leu1288fs	coding	Pathogenic
3	45962333	CAG	C	A45962336T	FYCO1	NM_024513.4(FYCO1):c.3325_3326CT[1]:p.Cys1110fs	coding	Pathogenic
3	45966828	CT	C	T45966830C	FYCO1	NM_024513.4(FYCO1):c.2505del:p.Ala836fs	coding	Pathogenic
3	45968500	CCTCT	C	C45968503G	FYCO1	NM_024513.4(FYCO1):c.828_829AG[1]:p.Glu277fs	coding	Pathogenic
3	46373452	TACAGTCAGTATCAATTCTGGAAGAATTTCCAG	T	G46373456T	CCR5	NM_000579.3(CCR5):c.554_585del:p.Ser185fs	coding	Benign
3	46373794	GC	G	C46373796T	CCR5	NM_000579.3(CCR5):c.894del:p.Phe299fs	coding	Benign
3	46701541	CG	C	G46701545T	TMIE	NM_147196.3(TMIE):c.58del:p.Val20fs	coding	Pathogenic/Likely_pathogenic
3	46705788	AGCCCAG	C	A46705788C	TMIE	NM_147196.2(TMIE):c.94-2_98delinsC	noncoding	Pathogenic
3	46705816	GCCGC	G	C46705818T	TMIE	NM_001370524.1(TMIE):c.-38_-35del	coding	Pathogenic
3	46709583	TAAG	T	A46709608G	TMIE	NM_147196.3(TMIE):c.367_369AAG[8]:p.Lys131del	coding	Benign
3	46903773	G	GA	G46903784A	PTH1R	NM_000316.3(PTH1R):c.*127dup	noncoding	Benign
3	46991268	C	CA	T46991270A	NBEAL2	NM_015175.2(NBEAL2):c.607dup:p.Ile203fs	coding	Pathogenic
3	46995204	T	TGCAG	C46995215A	NBEAL2	NM_015175.3(NBEAL2):c.1476_1479dup:p.Leu494fs	coding	Pathogenic
3	46995459	C	CACGT	G46995464A	NBEAL2	NM_015175.3(NBEAL2):c.1725_1728dup:p.Ala577fs	coding	Pathogenic
3	46997359	A	AT	G46997361T	NBEAL2	NM_015175.3(NBEAL2):c.2751dup:p.Asp918Ter	coding	Pathogenic
3	47002023	TG	T	G47002027C	NBEAL2	NM_015175.3(NBEAL2):c.4890del:p.Arg1631fs	coding	Pathogenic
3	47002064	GAT	G	A47002065G	NBEAL2	NM_015175.3(NBEAL2):c.4928_4929del:p.Asp1643fs	coding	Pathogenic
3	47002750	T	TG	C47002757G	NBEAL2	NM_015175.2(NBEAL2):c.5413dup:p.Ala1805fs	coding	Pathogenic
3	47005190	CT	C	T47005193G	NBEAL2	NM_015175.3(NBEAL2):c.6432del:p.Phe2144fs	coding	Pathogenic
3	47005495	CT	C	T47005496G	NBEAL2	NM_015175.3(NBEAL2):c.6568del:p.Cys2190fs	coding	Pathogenic
3	47005686	A	AG	C47005692G	NBEAL2	NM_015175.3(NBEAL2):c.6692-47dup	noncoding	Benign
3	47007119	C	CCACTCCTTCAT	C47007134T	NBEAL2	NM_015175.3(NBEAL2):c.7192_7202dup:p.Gln2402fs	coding	Pathogenic
3	47007694	CT	C	T47007696G	NBEAL2	NM_015175.3(NBEAL2):c.7506del:p.Asp2503fs	coding	Pathogenic
3	47009418	AG	A	G47009424T	NBEAL2	NM_015175.2(NBEAL2):c.*104del	noncoding	Benign
3	47017732	T	TC	G47017733C	SETD2	NM_014159.7(SETD2):c.7438_7439insG:p.Gln2480fs	coding	Pathogenic
3	47057442	AT	A	T47057444G	SETD2	NM_014159.7(SETD2):c.6341del:p.Asn2114fs	coding	Pathogenic
3	47116748	CTTCT	C	T47116753A	SETD2	NM_014159.6(SETD2):c.4457_4460delAGAA	coding	Pathogenic
3	47120964	G	GT	G47120969T	SETD2	NM_014159.7(SETD2):c.3671dup:p.Asn1224fs	coding	Pathogenic
3	47121892	T	TTA	C47121895T	SETD2	NM_014159.7(SETD2):c.2742_2743dup:p.Lys915fs	coding	Pathogenic
3	47122607	GA	G	A47122608G	SETD2	NM_014159.7(SETD2):c.2028del:p.Pro677fs	coding	Pathogenic
3	47122806	TTC	T	C47122810T	SETD2	NM_014159.7(SETD2):c.1828_1829del:p.Glu610fs	coding	Pathogenic
3	47123586	ATC	A	C47123590T	SETD2	NM_014159.7(SETD2):c.1046_1047GA[1]:p.Asp350fs	coding	Pathogenic
3	47410355	CCGGCCCCACCAGTTGCAGGTCTCCCCT	C	A47410366T	PTPN23	NM_015466.4(PTPN23):c.2568_2594del:p.Val857_Pro865del	coding	Pathogenic/Likely_pathogenic
3	47410770	TC	T	C47410772T	PTPN23	NM_015466.4(PTPN23):c.2974del:p.Leu992fs	coding	Pathogenic
3	47412922	T	TCC	A47412927C	PTPN23	NM_015466.4(PTPN23):c.4651_4652dup:p.Leu1552fs	coding	Pathogenic/Likely_pathogenic
3	48466673	G	GC	G48466679C	TREX1	NM_033629.6(TREX1):c.23dup:p.Pro10fs	coding	Pathogenic
3	48466711	T	TG	A48466714G	TREX1	NM_033629.6(TREX1):c.58dup:p.Glu20fs	coding	Pathogenic
3	48466792	G	GC	A48466800C	TREX1	NM_033629.6(TREX1):c.144dup:p.Thr49fs	coding	Pathogenic/Likely_pathogenic
3	48466806	CAG	C	A48466807G	TREX1	NM_033629.6(TREX1):c.152_153del:p.Gln51fs	coding	Pathogenic
3	48466860	C	CTG	G48466869T	TREX1	NM_033629.6(TREX1):c.206_207TG[5]:p.Ala72fs	coding	Pathogenic
3	48466860	CTG	C	T48466867G	TREX1	NM_033629.6(TREX1):c.206_207TG[3]:p.Val71fs	coding	Pathogenic
3	48466881	GCCTGCAGC	G	C48466891A	TREX1	NM_033629.6(TREX1):c.228_235CTGCAGCC[1]:p.Pro79fs	coding	Pathogenic
3	48466881	G	GCCTGCAGC	A48466899C	TREX1	NM_033629.6(TREX1):c.228_235CTGCAGCC[3]:p.Ser82fs	coding	Pathogenic
3	48466893	GCAGC	G	C48466898G	TREX1	NC_000003.12:g.48466894_48466897CAGC[1]	coding	Pathogenic
3	48467020	T	TGGC	A48467024G	TREX1	NM_033629.6(TREX1):c.366_368dup:p.Ala123dup	coding	Pathogenic
3	48467029	A	AT	G48467031T	TREX1	NM_033629.6(TREX1):c.375dup:p.Gly126fs	coding	Pathogenic
3	48467047	T	TCCCCCTGCTCCAAGCA	G48467064C	TREX1	NM_033629.6(TREX1):c.393_408dup:p.Glu137fs	coding	Pathogenic
3	48467154	AG	A	G48467155C	TREX1	NM_033629.6(TREX1):c.500del:p.Ser167fs	coding	Pathogenic
3	48467235	TC	T	C48467236G	TREX1	NM_033629.6(TREX1):c.581del:p.Ser194fs	coding	Pathogenic
3	48467261	G	GGCCCTGCTCAGCATCTGTCAGTGGAGACCACAGGCCCTGCTGCGGTGGGTGGAT	T48467318C	TREX1	NM_033629.6(TREX1):c.609_662dup:p.Leu204_Ala221dup	coding	Pathogenic
3	48467277	T	TGTCA	G48467284C	TREX1	NM_033629.6(TREX1):c.625_628dup:p.Trp210fs	coding	Pathogenic
3	48467354	T	TG	T48467359G	TREX1	NM_033629.6(TREX1):c.703dup:p.Val235fs	coding	Pathogenic
3	48467357	G	GGTCA	C48467362G	TREX1	NM_033629.6(TREX1):c.703_706dup:p.Thr236fs	coding	Pathogenic
3	48467509	A	AGGGGCTGCTG	C48467521G	TREX1	NM_033629.6(TREX1):c.856_865dup:p.Ala289fs	coding	Pathogenic
3	48467513	GCTGCTGGCCCCACTGGGT	G	C48467523A	TREX1	NM_033629.6(TREX1):c.868_885del:p.Pro290_Ala295del	coding	Pathogenic
3	48565160	CGGAGTATTCAG	C	G48565161A	COL7A1	NM_000094.4(COL7A1):c.8558_8568del:p.Tyr2852_Ser2853insTer	coding	Pathogenic
3	48565399	GCTGTCCTCACCTTC	G	G48565402C	COL7A1	NM_000094.3(COL7A1):c.8524_8527+10del	noncoding	Benign
3	48566691	AC	A	C48566695A	COL7A1	NM_000094.3(COL7A1):c.8272del:p.Val2758fs	coding	Pathogenic
3	48566709	A	ACT	C48566719T	COL7A1	NM_000094.4(COL7A1):c.8253_8254dup:p.Val2752fs	coding	Pathogenic
3	48567637	CT	C	T48567638G	COL7A1	NM_000094.4(COL7A1):c.7984-2del	noncoding	Pathogenic
3	48568162	TG	T	G48568166A	COL7A1	NM_000094.4(COL7A1):c.7802del:p.Pro2601fs	coding	Pathogenic
3	48568505	AC	A	C48568507A	COL7A1	NM_000094.3(COL7A1):c.7787del:p.Gly2596fs	coding	Pathogenic
3	48572691	GGCCAGGTTCTCCTTTA	G	C48572693G	COL7A1	NM_000094.3(COL7A1):c.6864_6879del:p.Lys2289fs	coding	Pathogenic
3	48573191	C	CG	T48573198G	COL7A1	NM_000094.4(COL7A1):c.6696dup:p.Gly2233fs	coding	Pathogenic
3	48573231	C	CA	G48573233A	COL7A1	NM_000094.3(COL7A1):c.6656dup:p.Thr2220fs	coding	Pathogenic
3	48573863	CA	C	A48573864G	COL7A1	NM_000094.4(COL7A1):c.6528del:p.Gly2177fs	coding	Pathogenic
3	48573864	A	AG	C48573871G	COL7A1	NM_000094.3(COL7A1):c.6527dup:p.Gly2177fs	coding	Pathogenic
3	48574719	C	AT	C48574719A	COL7A1	NM_000094.4(COL7A1):c.6351delinsAT:p.Gly2117_Glu2118insTer	coding	Pathogenic
3	48575097	TC	T	C48575099A	COL7A1	NM_000094.4(COL7A1):c.6245del:p.Gly2082fs	coding	Pathogenic
3	48575437	C	CG	C48575445G	COL7A1	NM_000094.4(COL7A1):c.6081dup:p.Gly2028fs	coding	Pathogenic
3	48575437	CG	C	G48575444C	COL7A1	NM_000094.3(COL7A1):c.6081del:p.Pro2029fs	coding	Pathogenic
3	48575444	GC	G	C48575448T	COL7A1	NM_000094.3(COL7A1):c.6074del:p.Gly2025fs	coding	Pathogenic
3	48575477	CT	C	T48575478G	COL7A1	NM_000094.4(COL7A1):c.6041del:p.Gln2014fs	coding	Pathogenic
3	48575498	GTCGCCCT	CCC	G48575498C	COL7A1	NM_000094.4(COL7A1):c.6014_6021delinsGGG:p.Lys2005fs	coding	Pathogenic
3	48575677	CCGTT	C	T48575680G	COL7A1	NM_000094.3(COL7A1):c.5924_5927del:p.Glu1975fs	coding	Pathogenic
3	48576249	CG	C	G48576251C	COL7A1	NM_000094.3(COL7A1):c.5819del:p.Pro1940fs	coding	Pathogenic
3	48576398	AC	A	C48576400T	COL7A1	NM_000094.4(COL7A1):c.5772+1del	noncoding	Pathogenic
3	48576404	TC	T	C48576408T	COL7A1	NM_000094.3(COL7A1):c.5767del:p.Glu1923fs	coding	Pathogenic
3	48576537	TC	AT	T48576537A	COL7A1	NM_000094.3(COL7A1):c.5720_5721delinsAT:p.Gly1907Asp	coding	Pathogenic
3	48576709	T	TGGAGGCCC	C48576718G	COL7A1	NM_000094.3(COL7A1):c.5659_5666dup:p.Pro1892fs	coding	Pathogenic
3	48579489	T	TG	T48579495G	COL7A1	NM_000094.3(COL7A1):c.5261dup:p.Gly1755fs	coding	Pathogenic
3	48579806	T	TGGTGA	T48579808G	COL7A1	NM_000094.4(COL7A1):c.5132_5133insTCACC:p.Gly1712fs	coding	Pathogenic
3	48580581	A	ATTTC	G48580586T	COL7A1	NM_000094.3(COL7A1):c.5048_5051dup:p.Asn1684fs	coding	Pathogenic
3	48580617	CT	C	T48580621C	COL7A1	NM_000094.3(COL7A1):c.5015del:p.Lys1672fs	coding	Pathogenic
3	48581137	AC	A	C48581139T	COL7A1	NM_000094.3(COL7A1):c.4919del:p.Gly1640fs	coding	Pathogenic
3	48581287	TG	T	G48581293C	COL7A1	NM_000094.3(COL7A1):c.4871del:p.Pro1624fs	coding	Pathogenic
3	48581587	CT	C	T48581588C	COL7A1	NM_000094.3(COL7A1):c.4767del:p.Asp1590fs	coding	Pathogenic
3	48582508	TG	T	G48582510C	COL7A1	NM_000094.3(COL7A1):c.4568del:p.Pro1523fs	coding	Pathogenic
3	48583130	CT	C	T48583131C	COL7A1	NM_000094.4(COL7A1):c.4478del:p.Glu1493fs	coding	Pathogenic
3	48583142	AC	A	C48583145A	COL7A1	NM_000094.3(COL7A1):c.4466del:p.Gly1489fs	coding	Pathogenic
3	48583944	CA	C	A48583945G	COL7A1	NM_000094.3(COL7A1):c.4233del:p.Gly1412fs	coding	Pathogenic
3	48584366	CA	C	A48584367G	COL7A1	NM_000094.3(COL7A1):c.4128del:p.Gly1377fs	coding	Pathogenic
3	48585039	TA	T	A48585040G	COL7A1	NM_000094.3(COL7A1):c.3971del:p.Leu1324fs	coding	Pathogenic
3	48585589	GC	G	C48585593T	COL7A1	NM_000094.3(COL7A1):c.3861del:p.Pro1289fs	coding	Pathogenic
3	48585610	CG	C	G48585612T	COL7A1	NM_000094.3(COL7A1):c.3840del:p.Gly1281fs	coding	Pathogenic
3	48585947	C	CTGGT	A48585948T	COL7A1	NM_000094.3(COL7A1):c.3751_3752insACCA:p.Cys1251fs	coding	Pathogenic
3	48586357	G	GCTGAATATGT	A48586369T	COL7A1	NM_000094.3(COL7A1):c.3515_3524dup:p.Ser1175fs	coding	Pathogenic
3	48586408	TG	T	G48586410T	COL7A1	NM_000094.4(COL7A1):c.3473del:p.Pro1158fs	coding	Pathogenic
3	48586579	TGGGTCCATGTA	T	T48586583C	COL7A1	NM_000094.3(COL7A1):c.3376_3386del:p.Tyr1126fs	coding	Pathogenic
3	48586656	G	TT	G48586656T	COL7A1	NM_000094.4(COL7A1):c.3310delinsAA:p.Pro1104fs	coding	Pathogenic
3	48587074	TAGGA	T	G48587076C	COL7A1	NM_000094.4(COL7A1):c.3170_3173del:p.Phe1057fs	coding	Pathogenic
3	48587927	T	TGTTCCTGG	C48587936G	COL7A1	NM_000094.3(COL7A1):c.2715_2722dup:p.Gln908fs	coding	Pathogenic
3	48588383	AGG	A	G48588385C	COL7A1	NM_000094.3(COL7A1):c.2607_2608del:p.Leu870fs	coding	Pathogenic
3	48588757	T	TC	T48588760C	COL7A1	NM_000094.3(COL7A1):c.2471dup:p.Asn825fs	coding	Pathogenic
3	48588765	G	GT	A48588767T	COL7A1	NM_000094.4(COL7A1):c.2463dup:p.Leu822fs	coding	Pathogenic
3	48588988	C	CTCAG	G48588993T	COL7A1	NM_000094.3(COL7A1):c.2318_2321dup:p.Glu774delinsAspTer	coding	Pathogenic
3	48589327	CAGTCCTCAC	AA	C48589327A	COL7A1	NM_000094.4(COL7A1):c.2305_2314delinsTT:p.Val769fs	coding	Pathogenic
3	48589349	AG	A	G48589354C	COL7A1	NM_000094.3(COL7A1):c.2291del:p.Pro764fs	coding	Pathogenic
3	48589414	G	GTCCA	G48589423T	COL7A1	NM_000094.3(COL7A1):c.2219_2222TGGA[3]:p.Leu743fs	coding	Pathogenic
3	48589469	GC	G	C48589471T	COL7A1	NC_000003.12:g.48589471del	coding	Pathogenic
3	48590308	A	ATG	C48590312G	COL7A1	NM_000094.4(COL7A1):c.1953_1954dup:p.Ile652fs	coding	Pathogenic
3	48591510	TG	T	G48591513C	COL7A1	NM_000094.4(COL7A1):c.1589del:p.Pro530fs	coding	Pathogenic
3	48591726	TAG	T	A48591729T	COL7A1	NM_000094.4(COL7A1):c.1450_1451CT[1]:p.Tyr485fs	coding	Pathogenic
3	48591935	CT	C	T48591936C	COL7A1	NM_000094.3(COL7A1):c.1319del:p.Glu440fs	coding	Pathogenic
3	48592658	AC	A	C48592662G	COL7A1	NM_000094.3(COL7A1):c.887del:p.Gly296fs	coding	Pathogenic
3	48593126	CA	C	A48593127G	COL7A1	NM_000094.3(COL7A1):c.657del:p.Gly220fs	coding	Pathogenic
3	48593144	TC	T	C48593146G	COL7A1	NM_000094.4(COL7A1):c.639del:p.Arg214fs	coding	Pathogenic
3	48593378	C	CT	G48593380T	COL7A1	NM_000094.3(COL7A1):c.497dup:p.Val168fs	coding	Pathogenic
3	48857718	T	TG	T48857724G	SLC25A20	NM_000387.6(SLC25A20):c.897dup:p.Asn300fs	coding	Pathogenic
3	48858545	AC	A	C48858548T	SLC25A20	NM_000387.6(SLC25A20):c.804del:p.Phe269fs	coding	Pathogenic/Likely_pathogenic
3	48862571	T	TA	G48862573A	SLC25A20	NM_000387.6(SLC25A20):c.505dup:p.Tyr169fs	coding	Pathogenic
3	48883995	AC	A	C48883997T	SLC25A20	NM_000387.6(SLC25A20):c.326+1del	noncoding	Pathogenic
3	48883995	ACCTGAGCACATCTTCTGGGTGTTTCTGTTGTAGTTTCTTCCCCAAACCAAACCCAAAGAAGCACACGGCAAACATGGGAGTGACCCCGATGATAGGGGCAGCCATTCCCCGATATAGCCCCGTGATGC	A	A48884000C	SLC25A20	NM_000387.6(SLC25A20):c.200_326+1del	noncoding	Pathogenic
3	48884052	AG	A	G48884053A	SLC25A20	NM_000387.6(SLC25A20):c.270del:p.Phe91fs	coding	Pathogenic
3	48892015	TCCC	CCCA	T48892015C	SLC25A20	NM_000387.6(SLC25A20):c.160_163delinsTGGG:p.Gly54_Thr55delinsTrpAla	coding	Pathogenic
3	48898710	GA	G	A48898711C	SLC25A20	NM_000387.6(SLC25A20):c.84del:p.His29fs	coding	Pathogenic
3	49004921	TG	T	G49004922T	P4HTM	NM_177939.3(P4HTM):c.949del:p.Val317fs	coding	Pathogenic
3	49032715	G	GC	A49032717C	QRICH1	NM_198880.3(QRICH1):c.1953dup:p.Arg652fs	coding	Pathogenic
3	49033201	TCA	T	C49033202G	QRICH1	NM_198880.3(QRICH1):c.1812_1813del:p.Glu605fs	coding	Pathogenic
3	49057049	AAGAG	A	A49057054T	QRICH1	NM_198880.3(QRICH1):c.1143_1144CT[2]:p.Leu383fs	coding	Pathogenic
3	49057051	G	GA	G49057053A	QRICH1	NM_198880.3(QRICH1):c.1148dup:p.Phe384fs	coding	Pathogenic
3	49057366	ACT	A	C49057369G	QRICH1	NM_198880.3(QRICH1):c.832_833del:p.Ser278fs	coding	Pathogenic
3	49076879	GC	AA	G49076879A	QRICH1	NM_198880.3(QRICH1):c.138_139delinsTT:p.Gln46_Gln47delinsHisTer	coding	Pathogenic
3	49076953	A	AC	A49076955C	QRICH1	NM_198880.3(QRICH1):c.64dup:p.Val22fs	coding	Pathogenic
3	49098488	T	TG	A49098495G	QARS1	NM_005051.3(QARS1):c.1957-14dup	noncoding	Benign
3	49099175	CTG	C	G49099179C	QARS1	NM_005051.3(QARS1):c.1689_1690CA[1]:p.Thr564fs	coding	Pathogenic
3	49099345	CG	C	G49099348C	QARS1	NM_005051.3(QARS1):c.1612del:p.Arg538fs	coding	Pathogenic
3	49099970	CCT	C	C49099971G	QARS1	NM_005051.3(QARS1):c.1284_1285del:p.Asp430fs	coding	Pathogenic
3	49100422	TAGTC	T	T49100425A	QARS1	NM_005051.3(QARS1):c.1009_1012del:p.Asp337fs	coding	Pathogenic
3	49102250	GC	G	C49102252G	QARS1	NM_005051.3(QARS1):c.585del:p.Arg195_Leu196insTer	coding	Pathogenic
3	49103656	G	GT	A49103658T	QARS1	NM_005051.3(QARS1):c.425dup:p.Tyr142Ter	coding	Pathogenic
3	49104332	TG	T	G49104336C	QARS1	NM_005051.3(QARS1):c.256del:p.Gln86fs	coding	Pathogenic
3	49121434	C	CT	G49121436T	LAMB2	NM_002292.4(LAMB2):c.5258dup:p.Glu1754fs	coding	Pathogenic
3	49122062	TG	T	G49122063T	LAMB2	NM_002292.4(LAMB2):c.4804del:p.Gln1602fs	coding	Pathogenic
3	49122170	G	GC	G49122173C	LAMB2	NM_002292.4(LAMB2):c.4773dup:p.Arg1592fs	coding	Pathogenic
3	49122322	AGCACCCGTGTG	A	A49122325C	LAMB2	NM_002292.4(LAMB2):c.4611_4621del:p.Thr1538fs	coding	Pathogenic
3	49122724	CTCTGGATAAGTTCTTGAAGTTCCTGGTTGGCCTGTTCCACCTG	C	T49122727C	LAMB2	NM_002292.4(LAMB2):c.4510_4552del:p.Gln1504fs	coding	Pathogenic
3	49124794	GC	G	C49124798G	LAMB2	NM_002292.4(LAMB2):c.3015del:p.Gln1006fs	coding	Pathogenic
3	49128496	CTT	C	T49128497G	LAMB2	NM_002292.4(LAMB2):c.1978_1979del:p.Lys660fs	coding	Pathogenic
3	49129643	GC	G	C49129644A	LAMB2	NM_002292.4(LAMB2):c.1478del:p.Cys493fs	coding	Pathogenic
3	49129644	CA	C	A49129645G	LAMB2	NM_002292.4(LAMB2):c.1477del:p.Cys493fs	coding	Pathogenic
3	49417643	CTG	C	G49417645A	AMT	NM_000481.4(AMT):c.1107_1108del:p.Tyr369_Ser370delinsTer	coding	Pathogenic
3	49417695	AG	A	G49417699C	AMT	NM_000481.4(AMT):c.1056del:p.Ser353fs	coding	Pathogenic
3	49417868	G	GC	T49417874C	AMT	NM_000481.4(AMT):c.982dup:p.Ala328fs	coding	Pathogenic/Likely_pathogenic
3	49417942	AG	A	G49417945A	AMT	NM_000481.4(AMT):c.908del:p.Pro303fs	coding	Pathogenic
3	49419112	CTG	C	G49419114T	AMT	NM_000481.4(AMT):c.734_735del:p.Thr245fs	coding	Pathogenic
3	49419781	AC	A	C49419783T	AMT	NM_000481.4(AMT):c.478del:p.Val160fs	coding	Pathogenic
3	49420215	ATGAGGGCCAAATCTT	A	G49420217C	AMT	NM_000481.4(AMT):c.452_466del:p.Lys151_Leu155del	coding	Pathogenic
3	49422429	CCA	C	A49422433T	AMT	NM_000481.4(AMT):c.18_19TG[1]:p.Val7fs	coding	Pathogenic
3	49422432	CACTT	C	T49422435A	AMT	NM_000481.4(AMT):c.15_18del:p.Ser6fs	coding	Pathogenic/Likely_pathogenic
3	49422434	CT	C	T49422436A	AMT	NM_000481.4(AMT):c.16del:p.Ser6fs	coding	Pathogenic
3	49422436	T	TA	C49422438A	AMT	NM_000481.4(AMT):c.14dup:p.Ser6fs	coding	Pathogenic
3	49530950	CA	C	A49530951G	DAG1	NM_004393.6(DAG1):c.440del:p.Gln147fs	coding	Pathogenic
3	49531253	GC	G	C49531254A	DAG1	NM_004393.6(DAG1):c.743del:p.Ala248fs	coding	Pathogenic
3	49532279	GCCTTCGAGATCCACGTCCACAGGCGC	G	T49532282C	DAG1	NM_004393.6(DAG1):c.1771_1796del:p.Phe591fs	coding	Pathogenic
3	49722253	CCAGGGCCTGAGCACAGCC	TCTGT	C49722253T	GMPPB	NM_021971.4(GMPPB):c.728_746delinsACAGA:p.Arg243fs	coding	Pathogenic
3	49722697	CTG	C	G49722701C	GMPPB	NM_021971.4(GMPPB):c.456_457CA[1]:p.Thr153fs	coding	Pathogenic
3	49723007	A	ACT	G49723010C	GMPPB	NM_021971.4(GMPPB):c.365_366dup:p.Phe123fs	coding	Pathogenic
3	49723090	TCACGGGCCAGCGC	T	C49723093G	GMPPB	NM_021971.4(GMPPB):c.271_283del:p.Ala91fs	coding	Pathogenic
3	50191732	GC	G	C50191733T	GNAT1	NM_144499.3(GNAT1):c.8del:p.Ala3fs	coding	Pathogenic
3	50302170	GCACATACATCTGTGACTTCCCTGTGCCCTCCAGCAC	CGGGCCACACGGAA	G50302170C	HYAL1	NM_033159.4(HYAL1):c.751_787delinsTTCCGTGTGGCCCG:p.Val251fs	coding	Pathogenic
3	50302912	TA	T	A50302914G	HYAL1	NM_033159.4(HYAL1):c.44del:p.Leu15fs	coding	Pathogenic
3	50343122	CCA	C	C50343127G	ZMYND10	NM_015896.4(ZMYND10):c.589_590TG[2]:p.Val198fs	coding	Pathogenic
3	50343330	A	AT	C50343332T	ZMYND10	NM_015896.4(ZMYND10):c.486dup:p.Ser163fs	coding	Pathogenic
3	50343751	AG	A	G50343753T	ZMYND10	NM_015896.4(ZMYND10):c.300del:p.Phe101fs	coding	Pathogenic
3	50350583	TGA	T	G50350584T	NPRL2	NM_006545.5(NPRL2):c.68_69del:p.Ile23fs	coding	Pathogenic
3	50366634	CAG	C	A50366639T	CACNA2D2	NM_006030.4(CACNA2D2):c.2590-15CT[2]	noncoding	Benign
3	50374760	CTGAGA	C	G50374762T	CACNA2D2	NM_006030.4(CACNA2D2):c.1956_1960del:p.Asn652fs	coding	Pathogenic
3	50378958	GT	G	T50378960A	CACNA2D2	NM_001174051.3(CACNA2D2):c.1295del:p.Asn432fs	coding	Pathogenic
3	50380009	C	CT	G50380011T	CACNA2D2	NM_006030.4(CACNA2D2):c.851dup:p.Ala286fs	coding	Pathogenic
3	50387591	CAT	C	T50387593G	CACNA2D2	NM_001174051.3(CACNA2D2):c.485_486del:p.Tyr161_Tyr162insTer	coding	Pathogenic
3	50503223	C	CT	G50503225T	CACNA2D2	NM_006030.4(CACNA2D2):c.200dup:p.His68fs	coding	Pathogenic
3	51312485	TCTTA	T	A51312489T	DOCK3	NM_004947.5(DOCK3):c.3107_3110del:p.Tyr1036fs	coding	Pathogenic
3	51986652	A	AG	T51986654G	ACY1	NM_000666.3(ACY1):c.575dup:p.Ser192fs	coding	Pathogenic
3	51988602	ATGTGAG	A	T51988603C	ACY1	NM_000666.3(ACY1):c.1001_1001+5del	coding	Pathogenic
3	51988948	G	GCA	C51988954A	ACY1	NM_000666.3(ACY1):c.1102_1103AC[3]:p.Pro369fs	coding	Pathogenic
3	52096645	TG	T	G52096649C	POC1A	NM_015426.5(POC1A):c.1048del:p.Gln350fs	coding	Pathogenic
3	52122475	CA	C	A52122476C	POC1A	NM_015426.5(POC1A):c.884del:p.Val295fs	coding	Pathogenic
3	52138273	AAG	A	A52138278C	POC1A	NM_015426.5(POC1A):c.703_704CT[2]:p.Ser236fs	coding	Pathogenic
3	52326167	TC	T	C52326169A	DNAH1	NM_015512.5(DNAH1):c.436del:p.Gln146fs	coding	Pathogenic
3	52346726	C	CGG	A52346728G	DNAH1	NM_015512.5(DNAH1):c.1912_1913insGG:p.Asp638fs	coding	Pathogenic
3	52346755	TTAAC	T	T52346756A	DNAH1	NM_015512.5(DNAH1):c.1941_1944del:p.Asn648fs	coding	Pathogenic
3	52371934	CTA	C	A52371936G	DNAH1	NM_015512.5(DNAH1):c.6526-10_6526-9del	noncoding	Benign
3	52375327	T	TG	C52375329G	DNAH1	NM_015512.5(DNAH1):c.7074dup:p.Arg2359fs	coding	Pathogenic
3	52381706	GT	G	T52381707C	DNAH1	NM_015512.5(DNAH1):c.7676del:p.Val2559fs	coding	Pathogenic
3	52391552	CG	C	G52391553C	DNAH1	NM_015512.5(DNAH1):c.10002del:p.Glu3336fs	coding	Pathogenic
3	52393014	CAGAG	C	A52393019C	DNAH1	NM_015512.5(DNAH1):c.10464_10465AG[2]:p.Arg3490fs	coding	Pathogenic
3	52396982	CCT	C	C52396983G	DNAH1	NM_015512.5(DNAH1):c.11726_11727del:p.Pro3909fs	coding	Pathogenic
3	52398902	GC	G	C52398903A	DNAH1	NM_015512.5(DNAH1):c.12143del:p.Ala4048fs	coding	Pathogenic
3	52402671	CA	C	A52402673T	BAP1	NM_004656.4(BAP1):c.1986del:p.Ile662fs	coding	Pathogenic
3	52402861	G	GCCAGC	A52402867C	BAP1	NM_004656.4(BAP1):c.1896_1900dup:p.Ala634fs	coding	Pathogenic
3	52403142	GGTGA	G	G52403145A	BAP1	NM_004656.4(BAP1):c.1882_1885del:p.Ser628fs	coding	Pathogenic
3	52403146	AG	C	A52403146C	BAP1	NM_004656.4(BAP1):c.1881_1882delinsG:p.Tyr627_Ser628delinsTer	coding	Pathogenic
3	52403192	CT	C	T52403194C	BAP1	NM_004656.4(BAP1):c.1835del:p.Lys612fs	coding	Pathogenic
3	52403193	TTCTC	T	C52403197G	BAP1	NM_004656.4(BAP1):c.1831_1834del:p.Glu611fs	coding	Pathogenic
3	52403414	A	AC	T52403417C	BAP1	NC_000003.12:g.52403416dup	noncoding	Pathogenic
3	52403414	AC	A	C52403416T	BAP1	NM_004656.4(BAP1):c.1729+1del	noncoding	Pathogenic
3	52403427	AG	A	G52403431A	BAP1	NM_004656.4(BAP1):c.1717del:p.Leu573fs	coding	Pathogenic
3	52403449	C	CA	G52403451A	BAP1	NM_004656.4(BAP1):c.1695dup:p.Glu566Ter	coding	Pathogenic
3	52403490	TC	T	C52403491A	BAP1	NM_004656.4(BAP1):c.1654del:p.Asp552fs	coding	Pathogenic
3	52403551	AAAGCACC	TGTGGGAGGTGTG	A52403551T	BAP1	NM_004656.4(BAP1):c.1587_1594delinsCACACCTCCCACA:p.Lys529fs	coding	Pathogenic
3	52403560	T	TG	A52403563G	BAP1	NM_004656.4(BAP1):c.1584dup:p.Lys529fs	coding	Pathogenic
3	52403578	CAG	C	A52403579G	BAP1	NM_004656.4(BAP1):c.1565_1566del:p.Pro522fs	coding	Pathogenic
3	52403630	CGA	C	A52403632T	BAP1	NM_004656.4(BAP1):c.1513_1514del:p.Ser505fs	coding	Pathogenic
3	52403669	ACT	A	T52403673A	BAP1	NM_004656.4(BAP1):c.1472_1473AG[1]:p.Ser492fs	coding	Pathogenic
3	52403680	TG	T	G52403685T	BAP1	NM_004656.4(BAP1):c.1464del:p.Ser489fs	coding	Pathogenic
3	52403682	GGGGT	G	G52403688A	BAP1	NM_004656.4(BAP1):c.1459_1462del:p.Thr487fs	coding	Pathogenic
3	52403695	G	GCTGCGAGTGTGTGGGCA	C52403717G	BAP1	NM_004656.4(BAP1):c.1433_1449dup:p.Pro484fs	coding	Pathogenic
3	52403707	TG	T	G52403710C	BAP1	NM_004656.4(BAP1):c.1437del:p.Thr480fs	coding	Pathogenic
3	52403728	TC	T	C52403731A	BAP1	NM_004656.4(BAP1):c.1416del:p.Ser473fs	coding	Pathogenic
3	52403763	AT	A	T52403765G	BAP1	NM_004656.4(BAP1):c.1381del:p.Ile461fs	coding	Pathogenic
3	52403785	CTT	C	T52403787G	BAP1	NM_004656.4(BAP1):c.1358_1359del:p.Lys453fs	coding	Pathogenic
3	52403839	GC	G	C52403842A	BAP1	NM_004656.4(BAP1):c.1305del:p.Gln436fs	coding	Pathogenic
3	52404488	CTCGTCATCCTCA	C	C52404490A	BAP1	NM_004656.4(BAP1):c.1203_1214del:p.Tyr401_Glu405delinsTer	coding	Pathogenic
3	52404499	C	CA	T52404501A	BAP1	NM_004656.4(BAP1):c.1203dup:p.Glu402Ter	coding	Pathogenic
3	52404517	C	CT	G52404519T	BAP1	NM_004656.4(BAP1):c.1185dup:p.Asp396fs	coding	Pathogenic
3	52404533	T	TG	C52404537G	BAP1	NM_004656.4(BAP1):c.1169dup:p.Pro391fs	coding	Pathogenic
3	52405115	T	TG	A52405121G	BAP1	NM_004656.4(BAP1):c.1110dup:p.Met371fs	coding	Pathogenic
3	52405189	AC	A	C52405193A	BAP1	NM_004656.4(BAP1):c.1036del:p.Val346fs	coding	Pathogenic
3	52405230	GGGTTT	G	G52405232T	BAP1	NM_004656.4(BAP1):c.991_995del:p.Lys331fs	coding	Pathogenic
3	52405265	CGCATGAACCAGCCGCCTCCTCTGCACCATCTGAGACA	C	C52405267G	BAP1	NM_004656.4(BAP1):c.932-8_960del	coding	Pathogenic
3	52405266	G	GC	A52405268C	BAP1	NM_004656.4(BAP1):c.959dup:p.Cys320fs	coding	Pathogenic
3	52405778	CTCAGAGGCTGCAGGGGCCCT	C	T52405779G	BAP1	NM_004656.4(BAP1):c.898_917del:p.Arg300fs	coding	Pathogenic
3	52405796	CCT	C	C52405797G	BAP1	NM_004656.4(BAP1):c.898_899del:p.Arg300fs	coding	Pathogenic
3	52405840	T	TG	A52405843G	BAP1	NM_004656.4(BAP1):c.855dup:p.Lys286fs	coding	Pathogenic
3	52405843	AC	A	C52405844T	BAP1	NM_004656.4(BAP1):c.852del:p.Glu284fs	coding	Pathogenic
3	52405858	G	GT	G52405860T	BAP1	NM_004656.4(BAP1):c.837dup:p.Gln280fs	coding	Pathogenic
3	52405864	C	CT	G52405867T	BAP1	NM_004656.4(BAP1):c.831dup:p.Glu278fs	coding	Pathogenic
3	52405871	CT	C	T52405873G	BAP1	NM_004656.4(BAP1):c.824del:p.Lys275fs	coding	Pathogenic
3	52406264	C	CTAGTA	C52406265T	BAP1	NM_004656.4(BAP1):c.771_772insTACTA:p.Ala258delinsTyrTer	coding	Pathogenic
3	52406277	C	CT	G52406279T	BAP1	NM_004656.4(BAP1):c.758dup:p.Thr254fs	coding	Pathogenic
3	52406329	T	TC	G52406331C	BAP1	NM_004656.4(BAP1):c.706dup:p.Asp236fs	coding	Pathogenic
3	52406843	GC	G	C52406845G	BAP1	NM_004656.4(BAP1):c.644del:p.Gly215fs	coding	Pathogenic
3	52406848	T	TA	C52406850A	BAP1	NM_004656.4(BAP1):c.639dup:p.Ile214fs	coding	Pathogenic
3	52406868	CG	C	G52406871C	BAP1	NM_004656.4(BAP1):c.619del:p.Arg207fs	coding	Pathogenic
3	52406895	TC	T	C52406901A	BAP1	NM_004656.4(BAP1):c.592del:p.Glu198fs	coding	Pathogenic
3	52407234	C	CT	A52407235T	BAP1	NM_004656.4(BAP1):c.519_520insA:p.Val174fs	coding	Pathogenic
3	52407236	T	TA	G52407238A	BAP1	NM_004656.4(BAP1):c.517dup:p.Tyr173fs	coding	Pathogenic
3	52407243	C	CA	G52407247A	BAP1	NM_004656.4(BAP1):c.510dup:p.Val171fs	coding	Pathogenic
3	52407294	CAG	C	A52407295G	BAP1	NM_004656.4(BAP1):c.458_459del:p.Pro153fs	coding	Pathogenic
3	52408012	GT	G	T52408013C	BAP1	NM_004656.4(BAP1):c.320del:p.Asp107fs	coding	Pathogenic
3	52408071	G	GT	A52408073T	BAP1	NM_004656.4(BAP1):c.261dup:p.Pro88fs	coding	Pathogenic
3	52408489	CAT	C	A52408490G	BAP1	NM_004656.4(BAP1):c.238_239del:p.Met80fs	coding	Pathogenic
3	52408539	T	TAG	C52408545G	BAP1	NM_004656.4(BAP1):c.186_187CT[3]:p.Thr64fs	coding	Pathogenic
3	52408553	CG	C	G52408556A	BAP1	NM_004656.4(BAP1):c.175del:p.Arg59fs	coding	Pathogenic
3	52408601	A	AC	A52408603C	BAP1	NM_004656.4(BAP1):c.127dup:p.Val43fs	coding	Pathogenic
3	52409584	TC	T	C52409586T	BAP1	NM_004656.4(BAP1):c.91del:p.Glu31fs	coding	Pathogenic
3	52409596	A	AC	T52409602C	BAP1	NM_004656.4(BAP1):c.79dup:p.Val27fs	coding	Pathogenic
3	52409596	AC	A	C52409601T	BAP1	NM_004656.4(BAP1):c.79del:p.Val27fs	coding	Pathogenic
3	52409596	ACC	A	C52409600T	BAP1	NM_004656.4(BAP1):c.78_79del:p.Val27fs	coding	Pathogenic
3	52409715	GA	G	A52409718T	BAP1	NM_004656.4(BAP1):c.65del:p.Phe22fs	coding	Pathogenic
3	52409867	GC	G	C52409870T	BAP1	NM_004656.4(BAP1):c.11del:p.Gly4fs	coding	Pathogenic
3	52423087	C	CCA	G52423090C	PHF7	NM_016483.7(PHF7):c.920-3_920-2dup	noncoding	Benign
3	52563363	CCTCACTAT	C	C52563366T	PBRM1	NM_018313.5(PBRM1):c.3923_3930del:p.Asp1308fs	coding	Pathogenic
3	52783133	TGGGGGTCTCAGGC	T	G52783134A	ITIH1	NM_002215.4(ITIH1):c.1099+9_1099+21del	noncoding	Benign
3	53231529	C	CCAGAAGATAAGGAGGTAG	A53231530C	TKT	NM_001135055.2:c.769_770insCTACCTCCTTATCTTCTG	coding	Pathogenic
3	53673802	T	TGGG	T53673805G	CACNA1D	NM_001128840.3(CACNA1D):c.1220+678_1220+679insGGG	coding	Pathogenic
3	53808664	CCTT	C	T53808666A	CACNA1D	NM_001128840.3(CACNA1D):c.5767_5769del:p.Phe1923del	coding	Benign/Likely_benign
3	55465912	T	TA	T55465922A	WNT5A	NM_003392.4(WNT5A):c.*4179dup	noncoding	Benign
3	56557250	T	TGGGGTAAGCA	T56557270A	CCDC66	NM_001141947.3(CCDC66):c.11+7_11+16dup	coding	Benign
3	57198398	CTG	C	G57198400C	HESX1	NM_003865.3(HESX1):c.450_451del:p.Asp150fs	coding	Pathogenic
3	57198803	A	ACT	T57198810C	HESX1	NM_003865.3(HESX1):c.301_302AG[4]:p.Leu103fs	coding	Pathogenic
3	57198869	CT	C	T57198870G	HESX1	NM_003865.3(HESX1):c.240del:p.Glu81fs	coding	Pathogenic
3	58104060	T	TG	A58104068G	FLNB	NM_001457.4(FLNB):c.1592dup:p.His532fs	coding	Pathogenic
3	58108844	TG	T	G58108845C	FLNB	NM_001457.4(FLNB):c.2055+274del	noncoding	Benign
3	58109772	TG	CT	T58109772C	FLNB	NM_001457.4(FLNB):c.2323+73_2323+74delinsCT	noncoding	Benign
3	58123703	TA	T	A58123726G	FLNB	NM_001457.4(FLNB):c.3724+36del	noncoding	Benign/Likely_benign
3	58136017	CAAT	C	T58136020A	FLNB	NM_001457.4(FLNB):c.4713_4715del:p.Asn1571del	coding	Pathogenic
3	58136052	CCGA	C	G58136054A	FLNB	NM_001457.4(FLNB):c.4747_4749del:p.Asp1583del	coding	Pathogenic
3	58146812	ACTTGTAGGTGGT	A	T58146815G	FLNB	NM_001457.4(FLNB):c.5555-5_5561del	noncoding	Pathogenic
3	58147081	GC	AT	G58147081A	FLNB	NM_001457.4(FLNB):c.5728+88_5728+89delinsAT	noncoding	Benign
3	58153411	GC	G	C58153415T	FLNB	NM_001457.4(FLNB):c.6408del:p.Ser2137fs	coding	Pathogenic
3	58197881	CA	C	A58197884C	DNASE1L3	NM_004944.4(DNASE1L3):c.643del:p.Trp215fs	coding	Pathogenic
3	58201101	C	CT	G58201105T	DNASE1L3	NM_004944.4(DNASE1L3):c.441dup:p.Asp148fs	coding	Pathogenic
3	58428688	CCT	C	C58428689T	PDHB	NM_000925.4(PDHB):c.793-76_793-75del	noncoding	Benign
3	58431585	TTACATACCATA	T	T58431586G	PDHB	NM_000925.4(PDHB):c.300_303+7del	noncoding	Pathogenic
3	58534004	CTCTG	C	C58534010G	ACOX2	NM_003500.4(ACOX2):c.457_460CAGA[1]:p.Thr154fs	coding	Benign
3	62372545	G	GCCGCCGCCT	G62372563T	FEZF2	NM_018008.4(FEZF2):c.315_323dup:p.Gly115_Gly117dup	coding	Benign
3	63912684	GGCAGCAGCA	G	A63912708C	ATXN7	NG_008227.1:g.53131AGC[(7_17)]	coding	Benign
3	63912684	G	GGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA	C63912717A	ATXN7	NM_001377405.1(ATXN7):c.89_91AGC[233]:p.Pro40_Pro41insGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGln	coding	Pathogenic
3	63996474	CCTT	C	T63996476A	ATXN7	NM_001377405.1(ATXN7):c.2654_2656del:p.Leu885del	coding	Benign
3	64098471	GA	G	A64098493G	PRICKLE2	NM_198859.4(PRICKLE2):c.*579del	noncoding	Benign
3	64159955	TC	T	C64159957T	PRICKLE2	NM_198859.4(PRICKLE2):c.380del:p.Gly127fs	coding	Pathogenic
3	66346474	G	GAAGAGTAGA	C66346485A	SLC25A26	NM_173471.3(SLC25A26):c.498+68_498+76dup	noncoding	Benign
3	67360748	CT	C	T67360756C	SUCLG2	NM_001177599.1(SUCLG2):c.1203del:p.Gly402fs	coding	Benign
3	67498302	AAAG	A	G67498308A	SUCLG2	NM_003848.3(SUCLG2):c.758-10_758-8del	noncoding	Benign
3	68988303	CT	C	T68988305C	EOGT	NM_001278689.2(EOGT):c.1074del:p.Gly359fs	coding	Pathogenic
3	69004435	TT	AA	T69004435A	EOGT	NM_001278689.2(EOGT):c.562_563inv:p.Lys188Leu	coding	Benign
3	69009765	TGTGA	T	G69009768A	EOGT	NM_001278689.2(EOGT):c.78_81del:p.His27fs	coding	Pathogenic
3	69119254	GTT	G	T69119256G	LMOD3	NM_198271.4(LMOD3):c.1099_1100del:p.Asn367fs	coding	Pathogenic
3	69119878	TC	T	C69119880T	LMOD3	NM_198271.4(LMOD3):c.476del:p.Gly159fs	coding	Pathogenic
3	69119988	GCTTTT	G	C69119994A	LMOD3	NM_001304418.2(LMOD3):c.357_361AAAAG[1]:p.Glu121fs	coding	Pathogenic
3	69122134	GC	TT	G69122134T	LMOD3	NM_198271.4(LMOD3):c.252_253delinsAA:p.Met84_Leu85delinsIleMet	coding	Benign
3	69122248	T	TG	T69122253G	LMOD3	NM_198271.4(LMOD3):c.138dup:p.Ser47fs	coding	Pathogenic
3	69122284	GT	G	T69122286C	LMOD3	NM_198271.5(LMOD3):c.102del:p.Glu34fs	coding	Pathogenic
3	69122345	GAGA	G	A69122348T	LMOD3	NM_198271.4(LMOD3):c.39_41del:p.Leu14del	coding	Benign
3	69941276	G	GT	A69941279T	MITF	NM_001354604.2(MITF):c.709dup:p.Tyr237fs	coding	Pathogenic
3	69949059	C	CTCGGGAAACTTGA	T69949074C	MITF	NM_001354604.2(MITF):c.773_785dup:p.Asp263fs	coding	Pathogenic
3	69956460	CGAA	C	A69956469T	MITF	NM_001354604.2(MITF):c.964_966AGA[2]:p.Arg324del	coding	Pathogenic
3	69956498	A	AC	T69956500C	MITF	NM_001354604.2(MITF):c.1000dup:p.Leu334fs	coding	Pathogenic
3	69959385	GA	G	A69959386G	MITF	NM_001354604.2(MITF):c.1145del:p.Glu382fs	coding	Pathogenic
3	69964873	TG	T	G69964875A	MITF	NM_001354604.2(MITF):c.1208del:p.Gly403fs	coding	Pathogenic
3	69964995	C	CCTGTACAACAACT	C69965011G	MITF	NM_001354604.2(MITF):c.1331_1343dup:p.Asp449fs	coding	Pathogenic
3	69965814	G	GAA	T69965825A	MITF	NM_001354604.2(MITF):c.*575_*576dup	noncoding	Benign
3	70955570	G	GT	A70955584T	FOXP1	NM_032682.6(FOXP1):c.*3676dup	noncoding	Benign
3	70958121	C	CT	C70958136T	FOXP1	NM_032682.6(FOXP1):c.*1125dup	noncoding	Benign
3	70958318	T	TTTTCTG	C70958326T	FOXP1	NM_032682.6(FOXP1):c.*923_*928dup	noncoding	Benign
3	70959190	G	GT	C70959204T	FOXP1	NM_032682.6(FOXP1):c.*56dup	noncoding	Benign
3	70970730	TCTTACCTGTAA	T	C70970731A	FOXP1	NM_032682.5(FOXP1):c.1717_1722+5del	noncoding	Pathogenic
3	70970772	G	GCTGCTCTGCATGTTTT	T70970789C	FOXP1	NM_032682.6(FOXP1):c.1670_1685dup:p.Ser562fs	coding	Pathogenic
3	70972637	CA	C	A70972641C	FOXP1	NM_001349338.3(FOXP1):c.1569del:p.Phe523fs	coding	Pathogenic
3	70972637	C	CAAAACACTTGTGAAGACTAAGATTAT	G70972664A	FOXP1	NM_032682.6(FOXP1):c.1544_1569dup:p.Val524fs	coding	Pathogenic
3	70976963	CG	C	G70976965A	FOXP1	NM_032682.6(FOXP1):c.1507del:p.Arg503fs	coding	Pathogenic
3	70977028	A	AGATTCGAGAATGGC	C70977043G	FOXP1	NM_032682.6(FOXP1):c.1429_1442dup:p.Glu483fs	coding	Pathogenic
3	70977641	ACCTG	A	G70977645A	FOXP1	NM_032682.6(FOXP1):c.1426_1428+1del	noncoding	Pathogenic
3	70977643	CTGCCTAAT	C	G70977645A	FOXP1	NM_001349338.3(FOXP1):c.1420_1427del:p.Ile474fs	coding	Pathogenic
3	70977647	CTAAT	C	T70977651A	FOXP1	NM_001349338.3(FOXP1):c.1420_1423del:p.Ile474fs	coding	Pathogenic
3	70977720	CTGCTGAA	C	G70977722A	FOXP1	NM_032682.5(FOXP1):c.1349-5_1350del	coding	Pathogenic
3	70977883	CGT	C	T70977887C	FOXP1	NM_032682.6(FOXP1):c.1289_1290AC[1]:p.Thr431fs	coding	Pathogenic
3	70977884	G	GTGTGC	A70977890T	FOXP1	NM_032682.6(FOXP1):c.1287_1291dup:p.Thr431fs	coding	Pathogenic
3	70977909	CAG	C	A70977912G	FOXP1	NM_032682.6(FOXP1):c.1263_1264CT[1]:p.Ser422fs	coding	Pathogenic
3	70977927	C	CG	A70977931G	FOXP1	NM_001349338.3(FOXP1):c.1248dup:p.Val417fs	coding	Pathogenic
3	70977934	CAG	C	A70977935G	FOXP1	NM_032682.6(FOXP1):c.1240_1241del:p.Leu414fs	coding	Pathogenic/Likely_pathogenic
3	70977935	A	AG	C70977942G	FOXP1	NM_032682.6(FOXP1):c.1240dup:p.Leu414fs	coding	Pathogenic
3	70978000	GGAGA	G	A70978004T	FOXP1	NM_001349338.3(FOXP1):c.1172_1175del:p.Leu391fs	coding	Pathogenic
3	70987981	GATC	G	T70987983A	FOXP1	NM_032682.6(FOXP1):c.1146+10_1146+12del	noncoding	Benign
3	70988068	CT	C	T70988072G	FOXP1	NM_032682.6(FOXP1):c.1071del:p.Asp358fs	coding	Pathogenic
3	71015577	CT	C	T71015578G	FOXP1	NM_001349338.3(FOXP1):c.945del:p.Val316fs	coding	Pathogenic
3	71041351	TGA	T	A71041355C	FOXP1	NM_032682.5(FOXP1):c.842_843TC[1]:p.Val283fs	coding	Pathogenic
3	71046999	CT	C	T71047001G	FOXP1	NM_032682.6(FOXP1):c.606del:p.Gly203fs	coding	Pathogenic
3	71781525	AT	A	T71781526G	PROK2	NM_001126128.2(PROK2):c.163del:p.Ser54_Ile55insTer	coding	Pathogenic
3	73388070	C	CT	A73388075T	PDZRN3	NM_015009.3(PDZRN3):c.1417-5dup	noncoding	Benign
3	77617785	CA	C	A77617786T	ROBO2	NM_001128929.3(ROBO2):c.3602+13del	noncoding	Benign
3	78639851	GC	G	C78639853A	ROBO1	NM_002941.4(ROBO1):c.2929del:p.Ala977fs	coding	Pathogenic
3	81535262	AAAG	A	A81535267C	GBE1	NM_000158.4(GBE1):c.1861_1863CTT[1]:p.Leu622del	coding	Pathogenic
3	81578074	AG	A	G81578075C	GBE1	NM_000158.4(GBE1):c.1468del:p.Leu490fs	coding	Pathogenic
3	81586168	AGAGCTGGCATTCCT	A	G81586171T	GBE1	NM_000158.4(GBE1):c.1245_1258del:p.Gly416fs	coding	Pathogenic
3	81586187	CA	C	A81586188T	GBE1	NM_000158.4(GBE1):c.1239del:p.Asp413fs	coding	Pathogenic
3	81705468	CT	C	T81705470C	GBE1	NM_000158.4(GBE1):c.288del:p.Gly97fs	coding	Pathogenic
3	81705553	CTT	C	T81705554A	GBE1	NM_000158.4(GBE1):c.202_203del:p.Lys68fs	coding	Pathogenic
3	81761447	TC	T	C81761448A	GBE1	NM_000158.4(GBE1):c.70del:p.Asp24fs	coding	Pathogenic
3	81761479	G	GT	C81761481T	GBE1	NM_000158.4(GBE1):c.38dup:p.Asp13fs	coding	Pathogenic
3	87259994	C	CT	A87259997T	POU1F1	NM_000306.4(POU1F1):c.775dup:p.Arg259fs	coding	Pathogenic
3	87260022	CT	C	T87260024C	POU1F1	NM_000306.4(POU1F1):c.747del:p.Glu250fs	coding	Pathogenic
3	93874367	TA	T	A93874368T	PROS1	NM_000313.3(PROS1):c.1908del:p.Phe635_Tyr636insTer	coding	Pathogenic
3	93893121	A	CC	A93893121C	PROS1	NM_000313.3(PROS1):c.967delinsGG:p.Phe323fs	coding	Pathogenic
3	93898511	AC	A	C93898513T	PROS1	NM_000313.3(PROS1):c.785del:p.Gly262fs	coding	Pathogenic
3	93924246	AT	A	T93924250G	PROS1	NM_000313.3(PROS1):c.252del:p.Lys84fs	coding	Pathogenic
3	94035340	TAAAC	T	A94035343G	ARL13B	NM_001174150.2(ARL13B):c.393_396del:p.Gln132fs	coding	Pathogenic
3	94035442	G	GT	A94035459T	ARL13B	NM_001174150.2(ARL13B):c.486+22dup	noncoding	Benign
3	94035442	GT	G	T94035458A	ARL13B	NM_001174150.2(ARL13B):c.486+22del	noncoding	Benign
3	97787991	TAT	GAAAA	T97787991G	ARL6	NM_001278293.3(ARL6):c.351_353delinsGAAAA:p.Asp117fs	coding	Pathogenic
3	97788011	C	CA	T97788014A	ARL6	NM_001278293.3(ARL6):c.373dup:p.Ile125fs	coding	Pathogenic
3	98087454	AT	A	T98087455C	OR5AC2	NM_054106.1(OR5AC2):c.283del:p.Ser95fs	coding	Benign
3	98580104	T	TTAAGAA	T98580107A	CPOX	NM_000097.7(CPOX):c.*578_*579insTTCTTA	noncoding	Benign
3	98588809	G	GT	G98588812T	CPOX	NM_000097.7(CPOX):c.856dup:p.Thr286fs	coding	Pathogenic
3	98592995	TACCTGTGCCAGAGCCTGGCAC	T	T98593001G	CPOX	NM_000097.7(CPOX):c.489_509del:p.Cys164_Val170del	coding	Pathogenic
3	98593279	TC	T	C98593283A	CPOX	NM_000097.7(CPOX):c.225del:p.Thr76fs	coding	Pathogenic
3	98593373	G	GGCTGC	G98593388C	CPOX	NM_000097.7(CPOX):c.122_126GCAGC[3]:p.Gly45fs	coding	Pathogenic
3	100310461	CTG	C	T100310464G	TBC1D23	NM_001199198.3(TBC1D23):c.1473_1474TG[1]:p.Val492fs	coding	Pathogenic
3	100310515	T	AA	T100310515A	TBC1D23	NM_001199198.3(TBC1D23):c.1526delinsAA:p.Ile509fs	coding	Pathogenic
3	100720280	TG	T	G100720281T	TFG	NM_006070.6(TFG):c.268+223del	noncoding	Benign
3	100736765	TG	T	G100736766T	TFG	NM_006070.6(TFG):c.721+50del	noncoding	Benign
3	101232784	C	CA	T101232788A	IMPG2	NM_016247.4(IMPG2):c.3229dup:p.Cys1077fs	coding	Pathogenic
3	101232983	C	CTTCATCACCTAAAA	C101232998T	IMPG2	NM_016247.4(IMPG2):c.3023-6_3030dup	coding	Pathogenic
3	101242707	G	GT	A101242709T	IMPG2	NM_016247.4(IMPG2):c.3002dup:p.Tyr1001Ter	coding	Pathogenic
3	101243983	ACT	A	C101243990G	IMPG2	NM_016247.4(IMPG2):c.2346_2347del:p.Arg782fs	coding	Pathogenic
3	101244062	CA	C	A101244063T	IMPG2	NM_016247.4(IMPG2):c.2268del:p.Asn755_Tyr756insTer	coding	Pathogenic/Likely_pathogenic
3	101244504	TA	T	A101244505C	IMPG2	NM_016247.4(IMPG2):c.1826del:p.Val609fs	coding	Pathogenic
3	101244512	G	GC	A101244516C	IMPG2	NM_016247.4(IMPG2):c.1818dup:p.Gln607fs	coding	Pathogenic
3	101244672	CA	C	A101244673C	IMPG2	NM_016247.4(IMPG2):c.1658del:p.Val553fs	coding	Pathogenic
3	101246068	T	TG	C101246069G	IMPG2	NM_016247.4(IMPG2):c.1276_1277insC:p.Glu426fs	coding	Pathogenic
3	101254319	GCTAGTTACCACAGGCTTTGCCAAAGTTGAGGCTATAAACATCAATAAAGCCAAGTTTCTCTTCTAGAAGCATTGCATATATCAGAGAAATAAACACAAATTACAAAACAACATGAGGGGCATGTATACAATGTATGGTAATACAGACAAAGAAGTAGCTGATTTTGCCCACGGGGGAGAGGGAATCAATAAAAGCTAAAAAGAAGGGATTGCCAGGAGAGTGATCTGGTGTATGCAACCAAAAACAGAAGTAGAGTCTCTTTATCCACCTGTTCCCACTGGCCTCACATAGAGATATCAAGCAAAAGTCAAAAACCCTATTTGGCTTAAGTATTTTCCAAAACTTTTAAAAACTATGTATACAATTATCTTGTCTTCTATGAAAAATAAGCTCCACAAGATCAAGGAGTGATGTGGTTTGGCTCTATGTCTCCACCCAAATCTCATGTTGAATTGCGATCCCAAGCGTTGAAGGTGGGGCCTGGTGGGAGGTGATTGGATCATGGGGGCAGATTTCCTCCTTGCTGTTCTCATGATAGTAAGTGAGTCCTCAGAGATCTAGTTGTTTAAAAGTGTGTGGCACTTTCTCTCTCTCTCTCTCTGTCTCTTTCTCTCTGACTCTCTCTCTCTCTCAGTCTCTTCCCCTACCTCCCTCCTGCTCCACCATGGTAAGACGTGCTTGCTTCCCCTTCACCTCTTCACCTTCTGCCATGATTTTAAGTTTCCTGAGGCCTTCCAGCCATGCTTCCTGTACAGCCTGTGGAACTGTAAGTCAATTAAACCTCTTTCCTTCATAAATTACCAAGCCTCAGGTTATTTATAGCAGTGTGAGAATGGACTAATACAAGGAGGATCATATCTTTTGAGATAGTGATCAAGTTACGTAGAAAGCTGCCGCCATTCAGAACTCTGAAGTTGGCCTGACAATAGCAATAAATTTTAGGGACAAAATTCTGAGTAATTGAAATATATGTCTAATGAAAGCCCAAGACACTTGAATTAGTTGGTACTAGATATTGTAAAGCTTTTGTTGAACTTGCTTACAAATTCTAAGAAAGTTGTTTACCTCTTTTTAGGATACCTTTATGAAAGTAGCTCCACCAACAGGCTCCACATAAAAGGAAGATCTTGCAATACTGTTTGTGGATATAGTTTCCTAAGCAACCTCTTTGTTTATTGTAGACCTTAATCTTCACGCCATTCTCCTACCACTCCAGTTACTGACCTTGGTGTTTGCACCTTCTGCTCAATGTAGGTTCTTAACTCCCTTAGGTCATGATCTCCTAACTATATCTTTTCTCTGTCTGATCCCAATATCCTGATTCCTAGAATCTTCTGCCCATATGCCATCTCCATGGTTAGCCCCGGCTAATCTCTATTAGCATTGCCAGAGGGACTTCAGCAGTTTCAGATTATAACAAGCTTCTTATCTGTTCACTATTTTATCTAGCCCTAGTATTCCAACAGAGATTCAACAATGACAAAGAAGTATATAAGGAAGTGAGCCCAGGATAACTGCTCCAAAATATAAAGCCTCCCTAATGTTTAAGAATGAATAGTTCTATAATACTCTCATTCACTGAAGAGAGCATTTCTCCATCTTAAAGTCCTATGTAATTCATATAAAGCCCAGACCACTTTGTGACCCTGTCTCAGCAGAGTGTCACATTAAAAAAAACGTTAGTCCAGCAGCCAAAATAGTTGAAAGCAATGTAAAGTTTTAGTCTGGCCTCTCAAGAAAAAGAAAAAAGAAAAGAAAAGAAAAGAAAGAGAAAGAAGGAAAGAAAGAAAGAAAGAAAAAGAAAGAGAGAAAGAAAGAAAGAAAGAAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAAAAATATCTTATTTGGGAAATAAGAGATTAAATCACACACAGTAAAATCTTTTTAAAAGTTTTTTTCTCTCCCTTTCTCACTTTCTCTGTCTCTCTCACACACACACATACACACAAATGCACACACACATGCACATATGTGCACACACACACATACACATATAACTGCCTGGAAAGACAAGACTTTTCTTTGTCTCTCTCTAAAAATTCTCCTTCCAAGCCCCAACTCAAAAAAATCTTGATTCCTATGTTCTTCCCTACCTTGCCTTTTAAATCTACTATTCTCTTTCATTATTAATTTTCTGATCTTCCTATGTAAATCCAACAAGCCTCTCTGGCTTCTCTATTTTTGTTTATTTATTTGTTACACACACACACAGAGAACTAGGTAGTAGCTGCCTGGAAGGACAGGACAGAGGCTCTTTCCTCTTTAAAATGTGTGGGAGCTAGAGAGGCTGTAAAAATGCATCATTAGCATTGCCTCACATGAAGATTTTCCTCCTCAGCAGCTGGTACTTCTCCCATGCTGTCACTTCCATAACGTATATTCCACTGAACATTTTAAAGCTAAGTTACCGATGAGTAAAGAAATCATGGAGAATAGAAGCAAATGCAAAGTAGCAAGTGAGTTAGCAGGATACCGTGGCCCTGATGAGTTAAGATGCTGCATACTGGTAGCCAGAATCTTAGCAAGTTTTAAGTCCCAGGTTGACTGGGCACCCTGTAGCCTCCAAATCCAGGTTAAACACCCTCTTCTTCATGATCTGTCATATCCACCTGTTCATTATGGATCATAACAGGATCTCCACAGCAATCTGAATTTAAAGTCAGTATTGAATTATCTGAGATTCTGCATGGCAACCATTATCACTTCTTCTTTGACCTAGATCTCCCATGACCTTTCTTGAGCTCTTCCTTTTTCTCTACACTCTGATTTTTAAGCCTTTACTAGCTGACTTACCTCAGAGAGGTCATGTCTCGGTTGTCAGGGAAGTATTATAGCCTGTTTCAATGCACACTTCCAAGTACTACTTTCCTTTTTCTTATGCTTTGCTCCTATTTCTCTAAACTACTTCTAACTGCCACTTTCCACACTCTGTGGCCTTTTGTCTACAAATATTCCAGAAAGCCCCGGATTAATCTATCCAAAATAGCTGCATGGCTAAAACTCCATTCATATCAGGTTGGCTCCTGTCTCATAAAGTCTAGAGAATGGTCAGAACCTTATATATTTCAGGAAATTAGTTTACACCAGAGCATACTGGAAAAGAAACTATACAAGGACTTCATGATGGATATCAAACTCACCATTGATAAGCTGCAGGGAATCAGGATCTGGATTCAAGGAAGAGTTCCCCAGCAAAAAATTCTGCTGCAATGTCTCAGCAATATAATCTCTGAAGTTACTGATTGTATAAACAACAGTGGGTTTATCATCCAGTTCCACAAGGCCATGGTTTTCCACCTTGTTGGAGTGAAGGCTAATGAGGTCCCAGGTGGTATTGCTGATGGCCTCACCATTGAAGGTAACTGCATAGTAAACATCTACGCCACTATGGATGGAAAGAGAGAACAGGTTAGGTTCAGCTAAGGAAGCACAAAGAAAGGAGCATTGAACCCATGAAGAACAAACATTGGACCTAGAGGGGGAGTCTCAAAGAGCATGGATTCCATCACTTTTCTCTGAAAAGCCTGGACAACATTTTGCCATCCTCTCCTCCTTCCCAGAGAATGAGGGGTCATAGCTCTAAGAATAGGGAAAAGAATTCTAAGGAGGCCACAGAGGCAACCCTGCAGGATGATCTGAGCATCTTCTTCCCCTATGTTCTCACTTCTCCTATCCTCTTTCAAAGGCAAGTCCTCCCTCTTCACTATGAGCCTACTTCCTTCTTTTCCTATTAGCATTTTCCCCCTAATTTTTAAAAACAGTCTTTCTAATTCCTCCTCACAATGCAAAATCACTTCATTATTGTTGTTAGACAAATTATGTACTGGAACATAGTTATTTATTGTGGTAGGAAAATTATGAAAAACTTGGTACTAAAGCAAATTGATGATTATTTTCCTTTAAAATGTTGTGCTGGAGTATTTTCTAATATGACAGTTCTTTCAGGAGACATACTTTTGTTTGATAACCTAGACAATTTACAGTTCTATAAAGTTTAAGACTAAATTGTAAAAAAACTATTATGAAGTAATTTTTTTCTTGGCCTGGTAGGAAAAATATCTCTAAAGTTATATTTTTACCACCCTCCAGGGCATTAACCAATTTTGTATGTAACTTAGTAATCTGTTCCCAATTAACTATGTGAATTTCTCTTTTTCAGATACTCTAGAAACAAGCTCTCTCTCTCT	G	A101254322T	IMPG2	NM_016247.4(IMPG2):c.909-802_1154-539del	noncoding	Pathogenic
3	101257636	TA	T	A101257639C	IMPG2	NM_016247.4(IMPG2):c.1045del:p.Tyr349fs	coding	Pathogenic
3	101257735	TC	T	C101257736A	IMPG2	NM_016247.4(IMPG2):c.946del:p.Glu316fs	coding	Pathogenic
3	101267236	AGCTCATTAGTTTACAATATATTGTCTATGTCTACTTTTACCTGATAGTGGCAGAATTGAGTAGTTGCAACAGAGACTATATGGCCTACAAAGTTTAAATTATTGGCTACCTGACTCTTAATAGAAAAGTTTGACAAACCCTGATCTGAAAAAGTCAGACAGTGATATTGGAAGTGATATAATATTTGAGTTATGCTCCCCTGGACCTACGGCCTGCTATATTTACTAAACTGTCTCCCAATTCAATGGACATTAGAGAAAGTGCCAAAAAGTACCTGTCATTTTCCTTGGGGGACCTGAAAACAAAAATTAAAAATATTAAACAGAGTTTGAGACAGTTATTATTGTCACATCATTCATCAAAGTGCAAGTTATTCATGTATTTCCTCTGAATTTCTTTGAAATGCTTCCTTAAATAAAAATGCTGACAAATTCCTATGGATTGAAGGAAGTGAGCAAAGGTGAAAAAAGCATTTTATTTTAAAACCATGGTCTTTATTTTCTTCTAAATTTTAAAAATACTTTAAAATAATTCACATATGGTTATTTCTTCATAAAGAAACTTTTTTCAGTAAATCAGCAGAGGACTCCAGTTGTTGGCTTTAACAAAATTGGGAACCTTCTTTTTTGGGATACAACATGTTATGCAGTATTAAAATCAGATGGTACACTGTAAAGTAGTAAGGGTATAGGTAAATGTCAGGACTGACTAATCCACAGTATACTGCATAACCTTTAATATTTATTATTTTATGTAGCAGATGCTTAAATAGAACTTTCCATGTGCCAGGAACTATGCTAAGCATTTTATAAAAATTGATTTAATCTTCATTAAGATTTATTAGTATCCTCATAATATAGGTATAGAAACTACAGACCAAAGAAGATAAATAAGTTGCTGATGGCATTTCAAAAGCATTTTTTTAATAAAGCAGGATTAAGGTAAATTGTCTTTTTTATACAAACAAAAAGTTAAATCCTGGAAATACACCCAAAAGCATCCAGCCAGAAGTGCAACGGCAGGATCTGAAGCCAGGCAAGTTGGCTCCAAAGACTGTGTTGCCCTTCATGTGCTGCCAAATAAGGGAGGTCTTCAAAGGCCTCACATTCTCAGGTTCTCATCTGAGCATACAACTGGAGGCAGCATCCTGTTTGAAAACTGCTAAAGTTGAATGGGGGCGACTGGTCATGATATGAGACTAGGTAAGTAGGACAACTTCAAATATTTGGCCTCTTTCCACTAAGCCTGCATCACTAACTAGCTAAACAACACTGGGAAAATTATTTAAATTCCCTGTGCTCTGGTTTCCTTATTGGAAAATATGAGCATAGTAACTATCTCATAGCATTGATGTTGGAATTAAATAGTGTGTGTGTAAATATACATATATATATATATAAAGCCTGGCACACTGTAAATGCTATATAAGTGCTTGCTGTTATTTCTGGTAAACTCAGAAGTTTTGTCAAGAACAAGCCAAAGTTGAGATGGATAACATCTAAACTTGGGCTAGAGCATCACCTAAATCATGGCATTGAGTCTAGCATGAAGGTTCAGAGCAAGAAAAGCTATAAAGTCAGCTGCTCTGTTTCAAAATTCCTCCTCCACCCCAGTTTACAAACTCTTGACTTTGGGCTAATACTTCATCCCTTTAAACCTGTTTCCTCCTCTTAAAAATGAGTATTAATAATATCTATCCTGAGAGGGCTGAAGATTAAGTGAGCTCAGCAATGTGGCATACCCAACACAAAGTATTCACTCAGTAAAGTATTCATTCAGTAAATGTTCACAAGTGTTACACTGTGAGTCTTAAGCAGGGAATAAATGTCTTTAAAAGAGGTGTCTGGTT	A	G101267237T	IMPG2	NM_016247.4(IMPG2):c.887+430_908+274del	noncoding	Pathogenic
3	101275694	GA	G	A101275695G	IMPG2	NM_016247.4(IMPG2):c.634del:p.Ser212fs	coding	Pathogenic
3	101291471	ACACT	A	T101291475C	IMPG2	NM_016247.4(IMPG2):c.533+4_533+7del	noncoding	Pathogenic
3	101319726	CTGTT	C	G101319728C	IMPG2	NM_016247.4(IMPG2):c.188_191del:p.Lys63fs	coding	Pathogenic
3	101319728	G	GT	C101319732T	IMPG2	NM_016247.4(IMPG2):c.189dup:p.Gln64fs	coding	Pathogenic
3	101319728	GTTTC	G	C101319732T	IMPG2	NM_016247.4(IMPG2):c.186_189del:p.Lys62fs	coding	Pathogenic
3	101801592	CTCAAGCTG	C	T101801593C	NXPE3	NM_145037.4(NXPE3):c.452_459del:p.Leu151fs	coding	Benign
3	101801602	AG	A	G101801604C	NXPE3	NM_145037.4(NXPE3):c.463del:p.Ala155fs	coding	Benign
3	108383733	T	TAA	T108383739A	MYH15	NM_014981.2(MYH15):c.5692-9_5692-8dup	noncoding	Benign
3	108383733	T	TA	T108383739A	MYH15	NM_014981.2(MYH15):c.5692-9dup	noncoding	Benign
3	108383737	A	AAC	T108383739C	MYH15	NM_014981.2(MYH15):c.5692-9_5692-8insTG	noncoding	Benign
3	108505838	CAA	C	A108505852T	MYH15	NM_014981.2(MYH15):c.149-11_149-10del	noncoding	Benign
3	108505838	CA	C	A108505853T	MYH15	NM_014981.2(MYH15):c.149-10del	noncoding	Benign
3	112155055	T	TA	C112155070A	SLC9C1	NM_183061.3(SLC9C1):c.3365-20dup	noncoding	Benign
3	113358865	ACATCAAAATC	A	A113358867T	CFAP44	NM_001164496.1(CFAP44):c.2935_2944del:p.Asp979Terfs	coding	Pathogenic
3	113363260	T	TC	T113363262C	CFAP44	NM_001164496.2(CFAP44):c.2818dup:p.Glu940fs	coding	Pathogenic
3	113380944	CAT	C	A113380945G	CFAP44	NM_001164496.2(CFAP44):c.2005_2006del:p.Met669fs	coding	Pathogenic
3	114236380	AG	A	G114236383A	ZNF80	NM_007136.4(ZNF80):c.694del:p.Leu232fs	coding	Benign
3	114351681	GTTTGTC	TT	G114351681T	ZBTB20	NM_001164343.2(ZBTB20):c.172_178delinsAA:p.Asp58fs	coding	Pathogenic/Likely_pathogenic
3	119415186	CA	C	A119415189G	ARHGAP31	NM_020754.4(ARHGAP31):c.3260del:p.Lys1087fs	coding	Pathogenic
3	119490586	T	TC	G119490589C	POGLUT1	NM_152305.3(POGLUT1):c.835dup:p.Arg279fs	coding	Pathogenic
3	120633223	T	TG	T120633230G	HGD	NM_000187.4(HGD):c.1111dup:p.His371fs	coding	Pathogenic
3	120633316	CTC	TA	C120633316T	HGD	NM_000187.4(HGD):c.1017_1019delinsTA:p.Met339fs	coding	Pathogenic
3	120644440	GCC	G	C120644443T	HGD	NM_000187.4(HGD):c.651_652del:p.Ala218Glnfs	coding	Pathogenic
3	120647888	T	TC	A120647893C	HGD	NM_000187.4(HGD):c.457dup:p.Asp153fs	coding	Pathogenic
3	120674901	CT	C	T120674903C	HGD	NM_000187.4(HGD):c.175del:p.Ser59fs	coding	Pathogenic
3	120675486	AATGCTCACATCCATGGTGTTCAAGGGGAATATGAGGGATTCTCTTTAACTCTGGATTTTTGGGGATCCTACTGGAAACCCTACAGTTAATTTCACTAGTTTGGATTGGCTGCTGTGCCACCAATCCAATTTTAATCTTTGTGTTGTCATTGCTCTGTATCTTCATTGCCCCTATGACTTGGGAAACCTCTAGACAGTTCACAGGCTAGATTGGAAGAGCCACGGTGGGTGGAGGCACTTTGGCCTGAAAGCTAGTCATCCAGGAATAGGATTCAGAGCTCTTCTAAGCACTTTATTTGCTCATACCTGTCCTTCTGGCAGGGAACCTGGGCAGCGAGGATCCTCTGAAGAACACTCATTCCCAAATCCAGAAATGTACTGTAGGTGACAAAGACACAAATGCCACCATTAGCAGGATTTAAAGAGCATTTCAGAAAATTGGCAGTTTACTAAGGTAAGAATTTCTATATGGACCTATGTTTGTGTATGATGTTCCACATATAATATCTTTACTGTGTCTTGACATATGAATCATTTAGGGAAGACAATATGGTTTCTGTGAATTTTAAAGACTTCTAATTAATCAGAAGAGTGCTGGATATTGCATAGACTTCTCCACCCTTAGCTGTACTTAGCTGATTTGTGGGTCT	A	T120675488C	HGD	NM_000187.4(HGD):c.16-272_87+305del	noncoding	Pathogenic
3	121205916	TC	T	C121205917T	STXBP5L	NM_001308330.2(STXBP5L):c.878-6del	noncoding	Benign
3	121770503	C	CTGCCACA	G121770511T	IQCB1	NM_001023570.4(IQCB1):c.1632_1638dup:p.Ala547fs	coding	Pathogenic
3	121770592	TA	T	A121770595C	IQCB1	NM_001023570.4(IQCB1):c.1568-19del	noncoding	Benign
3	121772600	T	TTC	G121772606C	IQCB1	NM_001023570.4(IQCB1):c.1520_1521GA[3]:p.Ala509fs	coding	Pathogenic
3	121772604	CTG	C	T121772607C	IQCB1	NM_001023570.4(IQCB1):c.1516_1517CA[1]:p.His506fs	coding	Pathogenic
3	121772610	TG	T	G121772611C	IQCB1	NM_001023570.4(IQCB1):c.1513del:p.Gln505fs	coding	Pathogenic
3	121781632	T	TACAC	A121781664C	IQCB1	NM_001023570.4(IQCB1):c.1410+81GT[17]	noncoding	Benign
3	121781663	A	AAT	G121781670A	IQCB1	NM_001023570.4(IQCB1):c.1410+74AT[4]	noncoding	Benign
3	121790093	A	AT	A121790095T	IQCB1	NM_001023570.4(IQCB1):c.1108dup:p.Met370fs	coding	Pathogenic
3	121795459	G	GA	C121795463A	IQCB1	NM_001023570.4(IQCB1):c.983dup:p.Arg329fs	coding	Pathogenic
3	121795523	C	CG	C121795524G	IQCB1	NM_001023570.4(IQCB1):c.919_920insC:p.Gly307fs	coding	Pathogenic
3	121795542	T	TCAAG	T121795549A	IQCB1	NM_001023570.4(IQCB1):c.897_900dup:p.Ile301fs	coding	Pathogenic
3	121797165	GCTGT	G	G121797168A	IQCB1	NM_001023570.4(IQCB1):c.825_828del:p.Arg275fs	coding	Pathogenic
3	121797181	AC	A	C121797182T	IQCB1	NM_001023570.4(IQCB1):c.812del:p.Ser271fs	coding	Pathogenic
3	121808954	AAGAG	A	G121808958A	IQCB1	NM_001023570.4(IQCB1):c.443_444CT[1]:p.Leu149fs	coding	Pathogenic
3	121808977	GAA	G	A121808981G	IQCB1	NM_001023570.4(IQCB1):c.424_425del:p.Phe142fs	coding	Pathogenic
3	121826110	CA	C	A121826111G	IQCB1	NM_001023570.4(IQCB1):c.333del:p.Ala112fs	coding	Pathogenic
3	121835005	GCTCCCA	G	T121835007G	IQCB1	NM_001023570.4(IQCB1):c.-147_-142del	noncoding	Benign
3	121993586	CAA	C	A121993587G	ILDR1	NM_001199799.2(ILDR1):c.1161_1162del:p.Trp388fs	coding	Pathogenic
3	121993716	TC	T	C121993718T	ILDR1	NM_001199799.2(ILDR1):c.1032del:p.Thr345fs	coding	Pathogenic
3	122254291	T	TG	C122254298G	CASR	NM_000388.4(CASR):c.108dup:p.Leu37fs	coding	Pathogenic
3	122254353	CG	TT	C122254353T	CASR	NM_000388.4(CASR):c.164_165delinsTT:p.Pro55Leu	coding	Pathogenic
3	122257094	G	TTCGCT	G122257094T	CASR	NM_000388.4(CASR):c.199delinsTTCGCT:p.Gly67fs	coding	Pathogenic
3	122257216	CT	C	T122257218G	CASR	NM_000388.4(CASR):c.323del:p.Leu108fs	coding	Pathogenic
3	122257287	GCTCAGAGCACATTCC	G	A122257291T	CASR	NM_000388.4(CASR):c.396_410del:p.Glu133_Ser137del	coding	Pathogenic
3	122257340	G	GTC	C122257345T	CASR	NM_000388.4(CASR):c.446_447TC[3]:p.Thr151fs	coding	Pathogenic
3	122283802	CA	C	A122283803C	CASR	NM_000388.4(CASR):c.1849del:p.Thr617fs	coding	Pathogenic
3	122283850	T	TGTGTTTATCAAGTTCCGCAACACACCCATTGTCAA	G122283887T	CASR	NM_000388.4(CASR):c.1898_1932dup:p.Ala645fs	coding	Pathogenic
3	122283923	TC	T	C122283926T	CASR	NM_000388.4(CASR):c.1972del:p.Leu658fs	coding	Pathogenic
3	122284049	AC	A	C122284051A	CASR	NM_000388.4(CASR):c.2097del:p.Asn700fs	coding	Pathogenic
3	122284053	AC	A	C122284055G	CASR	NM_000388.4(CASR):c.2101del:p.Arg701fs	coding	Pathogenic
3	122284108	G	CC	G122284108C	CASR	NM_000388.4(CASR):c.2154delinsCC:p.Trp718fs	coding	Pathogenic
3	122284195	CC	T	C122284195T	CASR	NM_000388.4(CASR):c.2241_2242delinsT:p.Pro748fs	coding	Pathogenic
3	122284630	CAACGTCTCCCGCAAGCGGTCCAGCAGCCTTGGAGGCTCCACGGGATCCACCCCCTCCTCCTCCATCAGCAGCAAGAGCAACAGCGAAGACCCATTCCCACAGCCCGAGAGGCAGAAGCAGCAGCAGCCGCTGGCCCTAACCCAGCAAGAGCAGCAGCAGCAGCCCCTGACCCTCCCACAGCAGCAACGATCTCAGCAGCAGCCCAGATGCAAGCAGAAGGTCATCTTTGGCAGCGGCACGGTCACCTTCTCACTGAGCTTTGATGAGCCTCAGAAGAACGCCATGGCCCACAGGAATTCTACGCACCAGAACTCCCTGGAGGCCCAGAAAAGCAGCGATACGCTGACCCGACACGAGCCATTACTCCCGCTGCAGTGCGGGGAAACGGACTTAGATCTGACCGTCCAGGAAACAGGTCTGCAAGGACCTGTGGGTGGAGACCAGCGGCCAGAGGTGGAGGACCCTGAAGAGTTGTCCCCAGCACTTGTAGTGTCCAGTTCACAGAGCTTTGTCATCAGTGGTGGAGGCAGCACTGTTACAGAA	C	C122284636A	CASR	NM_000388.4(CASR):c.2682_3224del:p.Ser895_Val1075del	coding	Pathogenic
3	122284963	CA	C	A122284964G	CASR	NM_000388.4(CASR):c.3010del:p.Ser1004fs	coding	Pathogenic
3	122285371	T	TA	G122285380A	CASR	NM_000388.4(CASR):c.*188dup	noncoding	Benign
3	123347875	C	CG	A123347880G	ADCY5	NM_183357.2(ADCY5):c.1312dup:p.Arg438fs	coding	Pathogenic
3	123448116	CAGCCGCCGCCGCCG	C	A123448131C	ADCY5	NM_183357.2(ADCY5):c.402_415CGGCGGCGGCGGCT[1]:p.Ser139fs	coding	Pathogenic
3	123448117	A	AGCCGCCGCCGCCGAGCCGCC	C123448147G	ADCY5	NM_183357.3(ADCY5):c.409_428dup:p.Ser145fs	coding	Pathogenic
3	123448117	AGCCGCCGCCGCCGAGCCGCC	A	G123448127C	ADCY5	NM_183357.2(ADCY5):c.409_428del:p.Gly137fs	coding	Pathogenic
3	123620185	GGCTGGAGAA	G	G123620186A	MYLK	NM_053025.4(MYLK):c.5368+13_5368+21del	noncoding	Benign/Likely_benign
3	123647349	ATATGC	A	T123647350C	MYLK	NM_053025.4(MYLK):c.4489_4493del:p.Ala1497fs	coding	Pathogenic
3	123649196	T	TG	C123649205G	MYLK	NM_053025.4(MYLK):c.4289-10dup	noncoding	Benign/Likely_benign
3	123649196	T	TGG	C123649205G	MYLK	NM_053025.4(MYLK):c.4289-10_4289-9dup	noncoding	Benign/Likely_benign
3	123657412	T	TG	T123657419G	MYLK	NM_053025.4(MYLK):c.4001dup:p.Ala1335fs	coding	Pathogenic
3	123664245	T	TCGCTTTC	T123664254G	MYLK	NM_053025.4(MYLK):c.3838_3844dup:p.Glu1282fs	coding	Pathogenic
3	123666334	TG	T	G123666335A	MYLK	NM_053025.4(MYLK):c.3715del:p.Gln1239fs	coding	Pathogenic
3	123682222	ACT	A	T123682226A	MYLK	NM_053025.4(MYLK):c.3652_3652+1del	noncoding	Pathogenic
3	123700201	CTT	C	T123700204C	MYLK	NM_053025.4(MYLK):c.3265_3266del:p.Lys1089fs	coding	Pathogenic
3	123700269	GTTC	G	C123700275T	MYLK	NM_053025.4(MYLK):c.3193_3195GAA[1]:p.Glu1066del	coding	Benign/Likely_benign
3	124745368	AT	A	T124745383G	UMPS	NM_000373.4(UMPS):c.*1299del	noncoding	Benign
3	125233094	CAG	C	A125233097T	ZNF148	NM_021964.2(ZNF148):c.1628_1629CT[1]:p.Leu544fs	coding	Pathogenic
3	125233142	C	CT	A125233145T	ZNF148	NM_021964.2(ZNF148):c.1583dup:p.Ser529fs	coding	Pathogenic
3	125233755	G	GA	T125233757A	ZNF148	NM_021964.2(ZNF148):c.970dup:p.Ser324fs	coding	Pathogenic
3	125233756	A	AT	C125233763T	ZNF148	NM_021964.3(ZNF148):c.969dup:p.Ser324fs	coding	Pathogenic
3	126496097	CAG	C	G126496099C	UROC1	NM_144639.3(UROC1):c.1448_1449del:p.Ser483fs	coding	Pathogenic
3	128481836	A	AGAGG	C128481841G	GATA2	NM_001145661.2(GATA2):c.1122_1125dup:p.Tyr376fs	coding	Pathogenic
3	128481866	CGTTGGCGTTTCG	C	T128481868C	GATA2	NM_001145661.2(GATA2):c.1084_1095del:p.Arg362_Asn365del	coding	Pathogenic
3	128483319	AGGCTGCAGATGTCCGGATAGGAAACTCC	A	T128483323A	GATA2	NM_001145661.2(GATA2):c.1017+513_1017+540del	noncoding	Pathogenic
3	128483905	CT	C	T128483907G	GATA2	NM_032638.5(GATA2):c.971del:p.Lys324fs	coding	Pathogenic
3	128483973	C	CTGTGGCCCCACAGT	A128483990T	GATA2	NM_001145661.2(GATA2):c.890_903dup:p.Ala302fs	coding	Pathogenic
3	128485199	TCTCCCGAGGAGATCAGGGAGCCATCGAAATCCCAAGATCAGACTGATTGAGTTAGAGACCCAGATTCCTTAATGGTCTGGAACCTCCGGAGTGCCTGAAACATGCACACACAACATGCACACAGACACACGTATACACATGCACACACGCTCCCAAACACATGCACATACAGAGTCACTTCCCTCGCTTCACATACTAAGTCCTGAGGTGGCTTGAATTTTCACTTAAGATTCAGGGAGGGAAAGGGGGAATTCCTGTTCTATGTTCTGGTCAGGCAGTGACCAACCCTGGGGCAAGGAACTGAACTTTGGGGGTACACTGGAAGCACTTAAGAAAATGGCAAAAGTTTTAGAGTCTCCTCTCCCTGACCCGGGGGTCTCAAACATCTGCTGGGGGCTATTAGAGCGAGACATCACCCATCCCCAGATCTGGGAAACCAACACTGCCACCTCTCCCAAGTCACAGCTCCCCACCACAAAAACGCAAATGCTCCCCTCTTCCACGAAGTCCCCAGCACCTGCCTTTACCTGAACAGGAACGAGCCTTGCTGCGCTGCTTAGGGGTGAAGCTGGAGGCCGGTCCCCCCAGGAAGCCTCCGGGGTGGAAGAGTCCGCTGCTGTAGTCGTGGGCAGCCGCCGGCACATAGGAGGGGTAGGTGGGGATGGGGTGGTGTGTAGCAGGCTGGGTGCCCATAGTAGCTAGGCCTGGGCGCAGGGGACTGCCACTTTCCATCTTCATGCTCTCCGTCAGTGACACCTGGTACTTGACGCCGTCCTTGTCCTCTCCTCGGGCTGCACTACCCCCCGCGGAAGATGAGGCTGGAGACGCAGCCCCCGTGGTGCTAGGGTCAGGAGACACTTCTTTGGGTGGCGTGGGTGGGAAGCCGAAAAGGTGGGAGCCAGAGTGGGCTGCTGTAGGGGTGAGGGAGGCCACTGAGCTCCCGCTGCCTCCCCCGCTCCCACCCCCAGCCCCTGGGTACACAGAGAGTGGGCCTCCAGGGCCTCCAGCAGCTGAGGGGTGCAGTGGCGTCTTGGAGAAGGGGCTCACGGTCCAGGGGTTGTGGTGGTGGGCCGCAGCGGCAGAGAGGGCTGCTTTGCCCCCGTCCAGCCAGGGCAAACCCGGGCTGTGCAACAAGTGTGGGCGGCACATCTGGCCTCCGGTCAGGCGGGCTGCGGGCAAAGAGAGAGAGGATCAGGGTGGGCAGAAAGATCAGGGTAGGCAGAGCTAGGGACGCCCCTGACAGACATTGAGATCACGACTCCCAGAACCAGCAGTCATCCCCTCCCCAAAGAAAGCCAGAAACATAATACCCCACCGGTAATAATCAGGAATGTCAGTCCAAGCTGAAGGACAAGTGGCATAGAAGGAACCCCACCGGACAGACCCTACAGGGAACCCTCACAGGCCAGCTGGAAGTGGGCAGAAACCCTGTGGGTCCCAGACCCTCCCCAATCGGCCGCTGCTCCCACCTCTCCCGCCCCAATTTTTCAGCAGCTCGATTCCTGCGGATCCTACATCCGGGAAGCAAGCAGACGGGCCCTCCTCCCCTCCCTCGCCTGGCGCGCGGCGCCTGGGTTCTCATCACCACGGGCCCAGTGCTCACCGTGCGCGGGGCTGTAGGAGACGCGCGCCCGCGCGTGAGCGGGGTTGGCATAGTAGGGGTTGCCCTGCGAGTCGAGGTGATTGAAGAAGACGTCCACCTCGTCTGGAGGCAGCAGCTGCGCGGGTTCCATGTAGTTGTGCGCCAGGCCCGGGTGGTGTGAGTCGGGGTGCTGCGCATTCAGCACGGCCGGGTGCGCCATCCAGCGCGGCTGCTCGGGCGCCACCTCCATGGCCGGCGGCGGCGGCTCAGGGTCTGGGTGCAGACGGCAACGGCCCTGCGCGAGGAAGGGGGAGTGAGGCGTGCCGCCAGCGCCTGACACCCCCCAAAGTCCCACCACGAGGTGTCCCGCACGCCACGGAGCCCCAGCCCAGATCCGGCGAGAAAGAGCACCAGTCCCGGGTGGGAGGAAAGCCCAAGGCTCAAAACGAA	T	C128485200A	GATA2	NM_001145661.1(GATA2):c.-200_871+527del2032	noncoding	Pathogenic
3	128485758	AG	A	G128485762T	GATA2	NM_032638.5(GATA2):c.839del:p.Pro280fs	coding	Pathogenic
3	128485766	AG	A	G128485767C	GATA2	NM_032638.5(GATA2):c.831del:p.Phe278fs	coding	Pathogenic
3	128485779	T	TC	A128485786C	GATA2	NM_001145661.2(GATA2):c.818dup:p.Pro274fs	coding	Pathogenic
3	128485944	C	CGTCAG	T128485950G	GATA2	NM_001145661.2(GATA2):c.649_653dup:p.Glu219_Ser220insTer	coding	Pathogenic/Likely_pathogenic
3	128485998	A	AC	G128486005C	GATA2	NM_001145661.2(GATA2):c.599dup:p.Gly200_Ser201insTer	coding	Pathogenic
3	128485998	AC	A	C128486004G	GATA2	NM_032638.5(GATA2):c.599del:p.Gly200fs	coding	Pathogenic
3	128486036	T	TG	T128486039G	GATA2	NM_032638.5(GATA2):c.561dup:p.Thr188fs	coding	Pathogenic
3	128486252	A	AG	T128486257G	GATA2	NM_001145661.2(GATA2):c.345dup:p.Trp116fs	coding	Pathogenic
3	128486284	A	AGG	C128486288G	GATA2	NM_032638.5(GATA2):c.312_313dup:p.Leu105fs	coding	Pathogenic
3	128486355	T	GC	T128486355G	GATA2	NM_001145661.2(GATA2):c.243delinsGC:p.Gly82fs	coding	Pathogenic
3	128486365	C	CG	C128486369G	GATA2	NM_032638.5(GATA2):c.232dup:p.Arg78fs	coding	Pathogenic
3	128879626	CGT	C	G128879635C	ACAD9	NM_014049.5(ACAD9):c.-65_-64GT[4]	noncoding	Benign
3	128879696	GCGGCTGCGGGCTCTTCCTGCGCACCA	G	G128879706C	ACAD9	NM_014049.5(ACAD9):c.15_40del:p.Leu6fs	coding	Pathogenic
3	128895320	CT	C	T128895322C	ACAD9	NM_014049.5(ACAD9):c.359del:p.Phe120fs	coding	Pathogenic/Likely_pathogenic
3	128895720	T	TCTC	T128895724C	ACAD9	NM_014049.5(ACAD9):c.453+305_453+307dup	noncoding	Benign
3	128899523	GGTGTGTGTGTGT	G	G128899552A	ACAD9	NM_014049.5(ACAD9):c.808+63GT[14]	noncoding	Benign
3	128904463	AC	A	C128904465T	ACAD9	NM_014049.5(ACAD9):c.1109del:p.Pro370fs	coding	Pathogenic
3	128908249	T	TGACTA	C128908255G	ACAD9	NM_014049.5(ACAD9):c.1344_1348dup:p.Thr450fs	coding	Pathogenic
3	128910014	ATCCCAGACCATC	A	T128910015A	ACAD9	NM_014049.5(ACAD9):c.1564-6_1569del	noncoding	Pathogenic
3	129062075	CT	C	T129062076G	GP9	NM_000174.4(GP9):c.337del:p.Cys113fs	coding	Pathogenic
3	129062415	A	AT	C129062428T	GP9	NM_000174.4(GP9):c.*143dupT	noncoding	Benign
3	129476449	TG	T	G129476453A	IFT122	NM_052989.3(IFT122):c.955del:p.Glu319fs	coding	Pathogenic
3	129492182	CA	C	A129492183G	IFT122	NM_052989.3(IFT122):c.2035del:p.Ser679fs	coding	Pathogenic
3	129500003	GTA	G	T129500004C	IFT122	NM_052989.3(IFT122):c.2311_2312del:p.Tyr771fs	coding	Pathogenic
3	129514477	TACA	G	T129514477G	IFT122	NM_052989.3(IFT122):c.3076_3079delinsG:p.Tyr1026_Ile1027delinsVal	coding	Pathogenic
3	129528966	AC	A	C129528968T	RHO	NM_000539.3(RHO):c.235del:p.Asn78_Leu79insTer	coding	Pathogenic
3	129529089	TG	T	G129529092C	RHO	NM_000539.3(RHO):c.359del:p.Gly120fs	coding	Pathogenic
3	129529103	CG	C	G129529106T	RHO	NM_000539.3(RHO):c.361+12del	noncoding	Benign/Likely_benign
3	129530918	GG	TT	G129530918T	RHO	NM_000539.3(RHO):c.404_405delinsTT:p.Arg135Leu	coding	Pathogenic
3	129532266	C	CCTGCAGTGCTCGTGTGGAATCGACTACTACACGCTCAAGCCGGAGGTCAACAACGAGTCTTTTGTCATCTACATGTTCGTGGTCCACTTCA	C129532359T	RHO	NM_000539.3(RHO):c.548_638dup:p.Ile214fs	coding	Pathogenic
3	129532268	T	TG	C129532270G	RHO	NM_000539.3(RHO):c.549dup:p.Gln184fs	coding	Pathogenic
3	129532365	CA	C	A129532366T	RHO	NM_000539.3(RHO):c.646del:p.Pro215_Met216insTer	coding	Pathogenic
3	129532624	TCTG	T	C129532628G	RHO	NM_000539.3(RHO):c.789_791CTG[1]:p.Cys264del	coding	Pathogenic
3	129533616	CT	C	T129533617G	RHO	NM_000539.3(RHO):c.946del:p.Cys316fs	coding	Pathogenic
3	129533707	GC	G	C129533711G	RHO	NM_000539.3(RHO):c.1040del:p.Pro347fs	coding	Pathogenic
3	129533842	AT	A	T129533858A	RHO	NM_000539.3(RHO):c.*140del	noncoding	Benign
3	130953954	TG	T	G130953956T	ATP2C1	NM_014382.4(ATP2C1):c.667del:p.Val223fs	coding	Pathogenic
3	130956114	C	CCCCT	T130956120C	ATP2C1	NM_014382.4(ATP2C1):c.769_772dup:p.Leu258fs	coding	Pathogenic
3	130975452	C	CAA	G130975455A	ATP2C1	NM_014382.4(ATP2C1):c.1535_1536dup:p.Glu513fs	coding	Pathogenic
3	130979383	AT	A	T130979385A	ATP2C1	NM_014382.4(ATP2C1):c.1707del:p.Thr570fs	coding	Pathogenic
3	130980648	ATG	A	G130980650T	ATP2C1	NM_001001486.2(ATP2C1):c.1810_1811del:p.Val604fs	coding	Pathogenic
3	130997693	T	TA	T130997698A	ATP2C1	NM_014382.4(ATP2C1):c.2335dup:p.Ile779fs	coding	Pathogenic
3	130997731	CTTTG	C	T130997737C	ATP2C1	NM_014382.4(ATP2C1):c.2371_2374TTGT[1]:p.Phe792fs	coding	Pathogenic
3	130998361	TG	T	G130998362T	ATP2C1	NM_014382.4(ATP2C1):c.2460del:p.Met820fs	coding	Pathogenic
3	131502772	CG	C	G131502773A	MRPL3	NM_007208.4(MRPL3):c.49del:p.Arg17fs	coding	Pathogenic
3	132454160	AT	A	T132454173A	DNAJC13	NM_015268.4(DNAJC13):c.932+16del	noncoding	Benign
3	132454160	ATT	A	T132454172A	DNAJC13	NM_015268.4(DNAJC13):c.932+15_932+16del	noncoding	Benign
3	132460240	T	TC	A132460242C	DNAJC13	NM_015268.4(DNAJC13):c.1450-9dup	noncoding	Benign
3	132477971	TA	T	A132477975T	DNAJC13	NM_015268.4(DNAJC13):c.2550-6del	noncoding	Benign
3	132660665	T	TGG	A132660667G	UBA5	NM_024818.6(UBA5):c.129_130insGG:p.Ser44fs	coding	Pathogenic
3	132660696	C	CA	G132660698A	UBA5	NM_024818.6(UBA5):c.160dup:p.Ser54fs	coding	Pathogenic
3	132675274	G	GT	A132675280T	UBA5	NM_024818.4(UBA5):c.844dup:p.Tyr282fs	coding	Pathogenic
3	132675627	A	AC	A132675628C	UBA5	NM_024818.4(UBA5):c.971_972insC:p.Lys324fs	coding	Pathogenic
3	132682076	TCTC	T	C132682082T	NPHP3	NM_153240.5(NPHP3):c.3821_3823GAG[1]:p.Gly1275del	coding	Pathogenic
3	132682824	TA	T	A132682832T	NPHP3	NM_153240.5(NPHP3):c.3697-7del	noncoding	Benign/Likely_benign
3	132683486	AG	A	G132683487C	NPHP3	NM_153240.5(NPHP3):c.3608del:p.Ala1203fs	coding	Pathogenic
3	132684778	G	GA	C132684782A	NPHP3	NM_153240.5(NPHP3):c.3345dup:p.Leu1116fs	coding	Pathogenic
3	132687195	A	AT	C132687202T	NPHP3	NM_153240.5(NPHP3):c.3156dup:p.Ser1053fs	coding	Pathogenic
3	132687229	TA	T	A132687238T	NPHP3	NM_153240.5(NPHP3):c.3126-4del	noncoding	Benign
3	132688637	T	TA	T132688644A	NPHP3	NM_153240.5(NPHP3):c.3125+7dup	noncoding	Benign
3	132688771	CA	C	A132688774C	NPHP3	NM_153240.5(NPHP3):c.3003del:p.Phe1001fs	coding	Pathogenic
3	132688818	T	TG	C132688822G	NPHP3	NM_153240.5(NPHP3):c.2956dup:p.Gln986fs	coding	Pathogenic
3	132689263	CCT	C	C132689264G	NPHP3	NM_153240.5(NPHP3):c.2694-2_2694-1del	coding	Pathogenic
3	132697526	T	TACTC	T132697528C	NPHP3	NM_153240.5(NPHP3):c.1986-165_1986-164insTGAG	noncoding	Benign
3	132699361	TG	T	G132699363A	NPHP3	NM_153240.5(NPHP3):c.1976del:p.Pro659fs	coding	Pathogenic
3	132699444	CAACTTGCTTAAAA	C	A132699446T	NPHP3	NM_153240.5(NPHP3):c.1888-7_1893del	coding	Pathogenic
3	132704249	CA	C	A132704250T	NPHP3	NM_153240.5(NPHP3):c.1472del:p.Met491fs	coding	Pathogenic
3	132713142	G	GAATAATAAAAT	A132713148T	NPHP3	NM_153240.5(NPHP3):c.1101_1102insATTTTATTATT:p.His368fs	coding	Pathogenic
3	132713153	ATAAC	A	C132713157A	NPHP3	NM_153240.5(NPHP3):c.1087_1090del:p.Val363fs	coding	Pathogenic
3	132719029	T	TC	A132719034C	NPHP3	NM_153240.5(NPHP3):c.634dup:p.Glu212fs	coding	Pathogenic
3	132719786	ACTTT	A	C132719791T	NPHP3	NM_153240.5(NPHP3):c.430_433AAAG[1]:p.Glu145fs	coding	Pathogenic
3	132719787	CT	C	T132719790C	NPHP3	NM_153240.5(NPHP3):c.436del:p.Ser146fs	coding	Pathogenic
3	132719813	AT	A	T132719814A	NPHP3	NM_153240.5(NPHP3):c.410del:p.Tyr137fs	coding	Pathogenic
3	132719817	GT	G	T132719823G	NPHP3	NM_153240.5(NPHP3):c.406del:p.Thr136fs	coding	Pathogenic/Likely_pathogenic
3	132719903	CAT	C	A132719918G	NPHP3	NM_153240.5(NPHP3):c.394-89AT[7]	noncoding	Benign
3	132722082	CG	C	G132722083T	NPHP3	NM_153240.5(NPHP3):c.273del:p.Glu90_Tyr91insTer	coding	Pathogenic
3	132722404	CGGAACGGAACGGGACGGGGTGGGGCAGA	C	T132722424C	NPHP3	NM_153240.4(NPHP3):c.-77_-50del28	noncoding	Benign
3	133448607	AAAG	A	G133448613C	BFSP2	NM_003571.4(BFSP2):c.694_696GAA[1]:p.Glu233del	coding	Pathogenic
3	133938484	GT	G	T133938486C	SLCO2A1	NM_005630.3(SLCO2A1):c.1634del:p.Asn545fs	coding	Pathogenic
3	133951238	GA	G	A133951246G	SLCO2A1	NM_005630.3(SLCO2A1):c.830del:p.Phe277fs	coding	Pathogenic
3	133951238	G	GA	G133951247A	SLCO2A1	NM_005630.3(SLCO2A1):c.830dup:p.Phe278fs	coding	Pathogenic
3	134250569	A	AGCGGCG	G134250586C	RYK	NM_002958.3(RYK):c.71_73CGC[7]:p.Pro27_Pro28dup	coding	Benign
3	134250593	AG	A	G134250595C	RYK	NM_002958.3(RYK):c.61del:p.Gly20_Leu21insTer	coding	Benign
3	134250644	GC	G	C134250648A	RYK	NM_002958.3(RYK):c.10del:p.Ala4fs	coding	Benign
3	134250644	G	GC	A134250649C	RYK	NM_002958.3(RYK):c.10dup:p.Ala4fs	coding	Benign
3	134537159	TC	T	C134537161G	CEP63	NM_001042384.2(CEP63):c.448del:p.Arg150fs	coding	Pathogenic
3	134558353	A	AT	A134558360T	CEP63	NM_001042384.2(CEP63):c.1329+6347dup	noncoding	Benign
3	134608667	TC	T	C134608668T	KY	NM_178554.6(KY):c.1071del:p.Thr358fs	coding	Pathogenic
3	134647423	AAG	A	G134647427A	KY	NM_178554.6(KY):c.199+10_199+11del	noncoding	Benign
3	134650909	C	CATGTCGATAGATACAGCACATGTCGATA	G134650910A	KY	NM_178554.6(KY):c.51_52insTATCGACATGTGCTGTATCTATCGACAT:p.Val18fs	coding	Pathogenic
3	136250449	T	TC	G136250452C	PCCB	NM_000532.5(PCCB):c.76dup:p.Arg26fs	coding	Pathogenic
3	136250511	GCGC	CCT	G136250511C	PCCB	NM_000532.5(PCCB):c.136_139delinsCCT:p.Ala46fs	coding	Pathogenic
3	136250522	A	AG	C136250528G	PCCB	NM_000532.5(PCCB):c.152dup:p.Gln52fs	coding	Pathogenic
3	136250523	GGGGGCCAACGCCGTATTGACGCGCAGCACAAGCGAGTGAGTCCTGA	G	A136250530T	PCCB	NM_000532.5(PCCB):c.155_183+17del	coding	Pathogenic
3	136255807	ACTAAATTGTCTGTGATGACATCACTGAGTGATCTTTGTTCCATTGTAGGGAAA	TGCTTTGCTTGCTTTGCTTTGCTTT	A136255807T	PCCB	NM_000532.5(PCCB):c.184-49_188delinsTGCTTTGCTTGCTTTGCTTTGCTTT	noncoding	Pathogenic
3	136260492	TT	AAC	T136260492A	PCCB	NM_000532.5(PCCB):c.386_387delinsAAC:p.Phe129Ter	coding	Pathogenic
3	136260521	C	CAAAAGATCTGCA	G136260536A	PCCB	NM_000532.5(PCCB):c.419_430dup:p.Lys140_Lys143dup	coding	Pathogenic
3	136260524	A	AAG	T136260528G	PCCB	NM_000532.5(PCCB):c.420_421dup:p.Ile141fs	coding	Pathogenic
3	136262037	CTT	C	T136262039G	PCCB	NM_000532.5(PCCB):c.517_518del:p.Leu173fs	coding	Pathogenic/Likely_pathogenic
3	136283929	CT	C	T136283931C	PCCB	NM_000532.5(PCCB):c.638del:p.Phe213fs	coding	Pathogenic
3	136283940	T	TG	T136283943G	PCCB	NM_000532.5(PCCB):c.649dup:p.Val217fs	coding	Pathogenic
3	136297949	TA	T	A136297950G	PCCB	NM_000532.5(PCCB):c.764-2del	noncoding	Pathogenic
3	136298012	T	TC	A136298014C	PCCB	NM_000532.5(PCCB):c.825dup:p.Asn276fs	coding	Pathogenic
3	136298022	G	GC	T136298027C	PCCB	NM_000532.5(PCCB):c.838dup:p.Leu280fs	coding	Pathogenic/Likely_pathogenic
3	136298026	CT	C	T136298027G	PCCB	NM_000532.5(PCCB):c.839del:p.Leu280fs	coding	Pathogenic
3	136316940	GGTT	G	T136316945A	PCCB	NM_000532.5(PCCB):c.968_970TTG[1]:p.Val324del	coding	Pathogenic
3	136316958	A	AT	G136316965T	PCCB	NM_000532.5(PCCB):c.990dup:p.Glu331Ter	coding	Pathogenic
3	136326791	CTCTCTT	C	C136326795A	PCCB	NM_000532.5(PCCB):c.1091-8_1091-3del	noncoding	Pathogenic
3	136326852	C	CTG	A136326857T	PCCB	NM_000532.5(PCCB):c.1143_1144dup:p.Asp382fs	coding	Pathogenic
3	136326881	C	CT	G136326886T	PCCB	NM_000532.5(PCCB):c.1173dup:p.Val392fs	coding	Pathogenic
3	136326881	CTT	C	T136326884G	PCCB	NM_000532.5(PCCB):c.1172_1173del:p.Phe391fs	coding	Pathogenic
3	136327171	CG	C	G136327176C	PCCB	NM_000532.5(PCCB):c.1220del:p.Gly407fs	coding	Pathogenic
3	136327174	GGGCATCATCCGGC	TAGAGCACAGGA	G136327174T	PCCB	NM_000532.5(PCCB):c.1218_1231delinsTAGAGCACAGGA:p.Gly407fs	coding	Pathogenic
3	136327178	AT	A	T136327179C	PCCB	NM_000532.5(PCCB):c.1223del:p.Ile408fs	coding	Pathogenic
3	136328791	A	AATGT	G136328796A	PCCB	NM_000532.5(PCCB):c.1433_1436dup:p.Glu480fs	coding	Pathogenic
3	136329943	G	GCCC	G136329947C	PCCB	NM_000532.5(PCCB):c.1538_1540dup:p.Arg514_Ile515insPro	coding	Pathogenic
3	136443368	A	ATAAAC	G136443375A	STAG1	NM_005862.3(STAG1):c.1460_1464dup:p.Trp489fs	coding	Pathogenic/Likely_pathogenic
3	136604345	TA	T	A136604347T	STAG1	NM_005862.3(STAG1):c.260del:p.Leu87fs	coding	Pathogenic
3	138086960	CCT	C	C138086963T	DZIP1L	NM_173543.3(DZIP1L):c.1059_1060AG[1]:p.Glu354fs	coding	Pathogenic
3	138402164	CA	C	A138402168G	MRAS	NM_001085049.3(MRAS):c.528-2del	noncoding	Benign
3	138945619	GC	G	C138945621G	FOXL2	NM_023067.4(FOXL2):c.1103del:p.Gly368fs	coding	Pathogenic
3	138945711	TG	T	G138945714C	FOXL2	NM_023067.4(FOXL2):c.1011del:p.Thr338fs	coding	Pathogenic
3	138945724	C	CG	C138945730G	FOXL2	NM_023067.4(FOXL2):c.998dup:p.Ala334fs	coding	Pathogenic
3	138945726	GGGGCGCGGCGGTGGCTGGGCTGGCAGGGCTGAGCTGGCCCGGCGGCGGCGCGGCGGCCCCGT	CGCCGCCGCC	G138945726C	FOXL2	NM_023067.4(FOXL2):c.935_997delinsGGCGGCGGCG:p.His312fs	coding	Pathogenic
3	138945734	G	GC	G138945736C	FOXL2	NM_023067.4(FOXL2):c.988dup:p.Ala330fs	coding	Pathogenic
3	138945739	G	GGCTGGGCTGGCAGGGCTGA	C138945764G	FOXL2	NM_023067.4(FOXL2):c.965_983dup:p.Thr329fs	coding	Pathogenic
3	138945740	GC	G	C138945741T	FOXL2	NM_023067.4(FOXL2):c.982del:p.Ala328fs	coding	Pathogenic
3	138945761	T	TGGCCCGGCGGC	G138945776C	FOXL2	NM_023067.4(FOXL2):c.951_961dup:p.Gln321fs	coding	Pathogenic
3	138945763	G	GC	G138945767C	FOXL2	NM_023067.4(FOXL2):c.959dup:p.Gln321fs	coding	Pathogenic
3	138945767	GGCGGCGGC	G	G138945776C	FOXL2	NM_023067.4(FOXL2):c.940_947GCCGCCGC[1]:p.Pro317fs	coding	Pathogenic
3	138945778	G	GGCGGCCCC	T138945788C	FOXL2	NM_023067.4(FOXL2):c.937_944dup:p.Ala316fs	coding	Pathogenic
3	138945796	T	TGGGGCAGGCGGCGGTGCGGC	C138945819G	FOXL2	NM_023067.4(FOXL2):c.907_926dup:p.His312fs	coding	Pathogenic
3	138945803	G	GGCGGCGGT	C138945819T	FOXL2	NM_023067.4(FOXL2):c.912_919dup:p.Pro307fs	coding	Pathogenic
3	138945811	T	TGCGGCGGCCGC	T138945824C	FOXL2	NM_023067.4(FOXL2):c.901_911dup:p.Pro305fs	coding	Pathogenic
3	138945830	T	TG	T138945833G	FOXL2	NM_023067.4(FOXL2):c.892dup:p.His298fs	coding	Pathogenic
3	138945851	TGGGGGTGCGGCGGAGGCGGGGGTGCGGCCGGC	T	G138945855C	FOXL2	NM_023067.4(FOXL2):c.840_871del:p.Ala283fs	coding	Pathogenic
3	138945851	TGGGGGTGCGGCGGAGGC	T	G138945863C	FOXL2	NM_023067.4(FOXL2):c.855_871del:p.Pro287fs	coding	Pathogenic
3	138945851	T	TGGGGGTGCGGCGGAGGC	C138945880G	FOXL2	NM_023067.4(FOXL2):c.855_871dup:p.His291fs	coding	Pathogenic
3	138945857	T	TGCGGCGGAGGCGGGGGTGCGGCC	G138945882C	FOXL2	NM_023067.4(FOXL2):c.843_865dup:p.His289fs	coding	Pathogenic
3	138945863	G	GGAGGCGGGGGTGCGGCC	G138945882A	FOXL2	NM_023067.4(FOXL2):c.843_859dup:p.Pro287fs	coding	Pathogenic
3	138945865	A	AGGCGGGGGTGCGGCCGG	C138945883G	FOXL2	NM_023067.4(FOXL2):c.841_857dup:p.Pro287fs	coding	Pathogenic
3	138945866	GG	T	G138945866T	FOXL2	NM_023067.4(FOXL2):c.856_857delinsA:p.Pro286fs	coding	Pathogenic
3	138945868	CG	C	G138945873T	FOXL2	NM_023067.4(FOXL2):c.854del:p.Pro285fs	coding	Pathogenic
3	138945881	G	GA	G138945882A	FOXL2	NM_023067.4(FOXL2):c.841_842insT:p.Pro281fs	coding	Pathogenic
3	138945895	G	GC	A138945898C	FOXL2	NM_023067.4(FOXL2):c.827dup:p.Leu277fs	coding	Pathogenic
3	138945918	C	CG	C138945925G	FOXL2	NM_023067.4(FOXL2):c.804dup:p.Gly269fs	coding	Pathogenic
3	138945918	CG	C	G138945924C	FOXL2	NM_023067.4(FOXL2):c.804del:p.Gly269fs	coding	Pathogenic
3	138945945	G	GT	G138945947T	FOXL2	NM_023067.4(FOXL2):c.777dup:p.Arg260fs	coding	Pathogenic
3	138945949	GT	G	T138945950A	FOXL2	NM_023067.4(FOXL2):c.773del:p.Tyr258fs	coding	Pathogenic
3	138945953	G	GGCCCGTACGAGGCGGCCGGGCCCGCCAGCCCCTTGACCACAGCGGCCGCGCCAGGGCTACCGGGGCCCGCGGCTGCAGCCGCAGCTGCTGCAGCC	T138946051C	FOXL2	NM_023067.4(FOXL2):c.675_769dup:p.Pro257fs	coding	Pathogenic
3	138945973	GCC	G	C138945975G	FOXL2	NM_023067.4(FOXL2):c.748_749del:p.Gly250fs	coding	Pathogenic
3	138946017	GGCCCGCGGCTGCAGCCGCAGCTGCTGCA	G	C138946021G	FOXL2	NM_023067.4(FOXL2):c.678_705del:p.Ala227fs	coding	Pathogenic
3	138946019	C	CCCGCGGCTGCAGCCGCAGCTGCTGCAGCCG	T138946051C	FOXL2	NM_023067.4(FOXL2):c.674_703dup:p.Ala225_Ala234dup	coding	Pathogenic
3	138946021	C	CGCGGCTGCAGCCGCAGCTGCTGCAGCCGCT	C138946060A	FOXL2	NM_023067.4(FOXL2):c.672_701dup:p.Ala225_Ala234dup	coding	Pathogenic
3	138946022	G	GGCGGCTGCAGCCGCAGCTGCTGCAGCCGCT	C138946023G	FOXL2	NM_023067.4(FOXL2):c.700_701insAGCGGCTGCAGCAGCTGCGGCTGCAGCCGC:p.Ala234delinsGluArgLeuGlnGlnLeuArgLeuGlnProPro	coding	Pathogenic
3	138946024	G	GGCTGCAGCCGCAGCTGCTGCAGCCGCAGCT	T138946051A	FOXL2	NM_023067.3(FOXL2):c.684684AGCTGCGGCTGCAGC[3]:p.Ala234_Gly235insAlaAlaAlaAlaAlaAlaAlaAlaAlaAla	coding	Pathogenic
3	138946027	TGCAGCCGCAGCTGCTGCAGCCG	T	G138946028C	FOXL2	NM_023067.4(FOXL2):c.674_695del:p.Ala225fs	coding	Pathogenic
3	138946030	A	AGCCGCAGCTGCTGCAGCCGCTGCGGCTGCC	A138946064G	FOXL2	NM_023067.4(FOXL2):c.663_692dup:p.Ala225_Ala234dup	coding	Pathogenic
3	138946033	CGCAGCTGCTGCAGCCGCTGCGGCTGCCG	C	G138946034C	FOXL2	NM_023067.4(FOXL2):c.662_689del:p.Ala221fs	coding	Pathogenic
3	138946041	CTGCAGCCGCTGCG	C	T138946042G	FOXL2	NM_023067.4(FOXL2):c.669_681del:p.Ala224fs	coding	Pathogenic
3	138946071	A	AGGAGGCATAGGGCATGGGTGAG	T138946100A	FOXL2	NM_023067.4(FOXL2):c.630_651dup:p.Cys218fs	coding	Pathogenic
3	138946104	GT	G	T138946105A	FOXL2	NM_023067.4(FOXL2):c.618del:p.Pro207fs	coding	Pathogenic
3	138946146	T	TG	C138946153G	FOXL2	NM_023067.4(FOXL2):c.576dup:p.Lys193fs	coding	Pathogenic
3	138946171	G	GT	C138946173T	FOXL2	NM_023067.4(FOXL2):c.551dup:p.Asp184fs	coding	Pathogenic
3	138946173	C	CG	C138946176G	FOXL2	NM_023067.4(FOXL2):c.549dup:p.Asp184fs	coding	Pathogenic
3	138946197	AC	A	C138946200G	FOXL2	NM_023067.4(FOXL2):c.525del:p.Cys176fs	coding	Pathogenic
3	138946246	G	GTGCGCGGGCGGCGGCCGGAAGGGCCTCTTCATGCGGCGGCGGCGCCGGTAGTTGCCCTTCTCGAACATGTCTTCGCAGGCCGGGTCCAGCGTCCAGTAGTTGCCCTTGCGCTCGCCGCCGCCCT	C138946371T	FOXL2	NM_023067.4(FOXL2):c.353_476dup:p.His159fs	coding	Pathogenic
3	138946253	G	GGCGGCGGCCGGAAGGGCCTCTTCAT	G138946287C	FOXL2	NM_023067.4(FOXL2):c.445_469dup:p.Pro157fs	coding	Pathogenic
3	138946254	GCGGCGGC	G	C138946258A	FOXL2	NM_023067.4(FOXL2):c.462_468del:p.Pro156fs	coding	Pathogenic
3	138946323	AG	A	G138946325C	FOXL2	NM_023067.4(FOXL2):c.399del:p.Cys134fs	coding	Pathogenic
3	138946335	GC	G	C138946336G	FOXL2	NM_023067.4(FOXL2):c.387del:p.Leu130fs	coding	Pathogenic
3	138946338	TC	T	C138946340A	FOXL2	NM_023067.4(FOXL2):c.384del:p.Tyr127_Trp128insTer	coding	Pathogenic
3	138946342	G	GTAGT	G138946348A	FOXL2	NM_023067.4(FOXL2):c.377_380dup:p.Tyr127Ter	coding	Pathogenic
3	138946384	GA	G	A138946385T	FOXL2	NM_023067.4(FOXL2):c.338del:p.Ile113fs	coding	Pathogenic
3	138946530	T	TGGCGATGAGCGCCAC	T138946547G	FOXL2	NM_023067.4(FOXL2):c.178_192dup:p.Val60_Ala64dup	coding	Pathogenic/Likely_pathogenic
3	138946536	TGAGCGCCACGTAC	T	C138946540T	FOXL2	NM_023067.4(FOXL2):c.174_186del:p.Tyr59fs	coding	Pathogenic
3	138946550	GAGTACGGGGGCTTCTGCGCCGGGTCCGGCTT	AGCGC	G138946550A	FOXL2	NM_023067.4(FOXL2):c.142_173delinsGCGCT:p.Lys48_Ser58delinsAlaLeu	coding	Pathogenic
3	138946620	C	CT	G138946622T	FOXL2	NM_023067.4(FOXL2):c.102dup:p.Gly35fs	coding	Pathogenic
3	138946668	CTG	C	T138946669G	FOXL2	NM_023067.4(FOXL2):c.53_54del:p.Pro18fs	coding	Pathogenic
3	138946669	TGG	T	G138946672C	FOXL2	NM_023067.4(FOXL2):c.52_53del:p.Pro18fs	coding	Pathogenic
3	138946679	AG	A	G138946682C	FOXL2	NM_023067.4(FOXL2):c.43del:p.Leu15fs	coding	Pathogenic
3	138946704	CG	C	G138946708T	FOXL2	NM_023067.4(FOXL2):c.18del:p.Glu7fs	coding	Pathogenic
3	139346862	C	CTA	A139346865T	MRPS22	NM_020191.3(MRPS22):c.173-15_173-14dup	noncoding	Benign
3	139350681	CG	C	G139350682C	MRPS22	NM_020191.3(MRPS22):c.649-295del	noncoding	Benign
3	139352680	CGT	C	T139352682G	MRPS22	NM_020191.3(MRPS22):c.768_769del:p.Gly257fs	coding	Pathogenic
3	140566154	AGAGGAG	A	G140566166A	CLSTN2	NM_022131.3(CLSTN2):c.2772_2774GGA[3]:p.Glu928_Glu929del	coding	Benign
3	141540616	A	AT	A141540625T	RASA2	NM_006506.5(RASA2):c.527+15dup	noncoding	Benign
3	142496525	AGG	A	G142496526A	ATR	NM_001184.4(ATR):c.5739-7_5739-6del	noncoding	Benign
3	142496528	AAGTAAC	A	G142496530A	ATR	NM_001184.4(ATR):c.5739-14_5739-9del	noncoding	Benign
3	142522850	GA	G	A142522862G	ATR	NM_001184.4(ATR):c.4153-10del	noncoding	Benign
3	142555897	A	AT	C142555908T	ATR	NM_001184.4(ATR):c.2320dup:p.Ile774fs	coding	Pathogenic
3	142560442	CA	C	A142560443C	ATR	NM_001184.4(ATR):c.1361del:p.Val454fs	coding	Pathogenic
3	142562081	G	GT	A142562082T	ATR	NM_001184.4(ATR):c.1170+150_1170+151insA	noncoding	Benign
3	142562083	G	GT	C142562084T	ATR	NM_001184.4(ATR):c.1170+148_1170+149insA	noncoding	Benign
3	142562421	GAC	G	C142562425G	ATR	NM_001184.4(ATR):c.977_978GT[1]:p.Val327fs	coding	Pathogenic
3	143832223	TA	T	A143832233G	SLC9A9	NM_173653.4(SLC9A9):c.176-3del	noncoding	Benign
3	146077865	T	TG	C146077872G	PLOD2	NM_182943.3(PLOD2):c.1559dup:p.Val523fs	coding	Pathogenic
3	146110469	G	GT	G146110471T	PLOD2	NM_182943.3(PLOD2):c.339-22dup	noncoding	Benign
3	147413388	CGCCGGCCGCCA	C	C147413391T	ZIC1	NM_003412.4(ZIC1):c.1184_1194del:p.Pro395fs	coding	Pathogenic
3	147413421	C	CCACCATCGT	G147413422C	ZIC1	NM_003412.4(ZIC1):c.1214_1215insCACCATCGT:p.Pro406_Pro407insThrIleVal	coding	Pathogenic
3	148741144	A	AT	C148741146T	AGTR1	NM_000685.4(AGTR1):c.110dup:p.Ile38fs	coding	Pathogenic
3	149009277	TG	T	G149009281A	GYG1	NM_004130.3(GYG1):c.487del:p.Asp163fs	coding	Pathogenic
3	149024074	TG	T	G149024075T	GYG1	NM_004130.4(GYG1):c.631del:p.Val211fs	coding	Pathogenic
3	149129807	GGGGCGTGACGCGCTTTTCGTGGCGGC	G	G149129812T	HPS3	NM_032383.5(HPS3):c.89_114del:p.Arg30fs	coding	Pathogenic/Likely_pathogenic
3	149140187	AG	A	G149140189C	HPS3	NM_032383.5(HPS3):c.403del:p.Ala135fs	coding	Pathogenic
3	149140438	GGA	G	A149140446T	HPS3	NM_032383.5(HPS3):c.660_661del:p.Arg220fs	coding	Pathogenic
3	149141153	AAG	A	G149141155A	HPS3	NM_032383.5(HPS3):c.851_852del:p.Arg284fs	coding	Pathogenic
3	149145409	CT	C	T149145413G	HPS3	NM_032383.5(HPS3):c.1030del:p.Cys344fs	coding	Pathogenic
3	149155158	T	TG	T149155162G	HPS3	NM_032383.5(HPS3):c.1455dup:p.Trp486fs	coding	Pathogenic
3	149157520	CTG	C	G149157522T	HPS3	NM_032383.5(HPS3):c.1682_1683del:p.Cys561fs	coding	Pathogenic/Likely_pathogenic
3	149162247	ACT	A	T149162249A	HPS3	NM_032383.5(HPS3):c.2208_2209del:p.Gln737fs	coding	Pathogenic
3	149167179	TA	T	A149167180G	CP;HPS3	NM_032383.5(HPS3):c.2736del:p.Glu913fs	coding	Pathogenic
3	149167904	G	GA	C149167911A	HPS3	NM_032383.5(HPS3):c.2814dup:p.Leu939fs	coding	Pathogenic
3	149167992	A	AT	G149168003T	CP;HPS3	NM_032383.5(HPS3):c.2887+19dup	noncoding	Benign
3	149167992	AT	A	T149168002G	HPS3	NM_032383.5(HPS3):c.2887+19del	noncoding	Benign
3	149172885	A	AT	G149172891T	CP;HPS3	NM_000096.4(CP):c.*828dup	noncoding	Benign
3	149177940	G	GT	G149177942T	CP	NM_000096.4(CP):c.2917dup:p.Thr973fs	coding	Pathogenic
3	149178590	T	TC	G149178592C	CP	NM_000096.4(CP):c.2702dup:p.Arg902fs	coding	Pathogenic
3	149178602	CAG	C	A149178603G	CP	NM_000096.4(CP):c.2689_2690del:p.Leu897fs	coding	Pathogenic
3	149179613	TC	T	C149179615A	CP	NM_000096.4(CP):c.2603del:p.Gly868fs	coding	Pathogenic
3	149182030	ACT	A	C149182035G	CP	NM_000096.4(CP):c.2523_2524AG[2]:p.Ser843fs	coding	Pathogenic
3	149182047	C	CA	T149182049A	CP	NM_000096.4(CP):c.2511dup:p.Gly838fs	coding	Pathogenic
3	149182076	GC	G	C149182078A	CP	NM_000096.4(CP):c.2482del:p.Ala828fs	coding	Pathogenic
3	149183501	TC	T	C149183503A	CP	NM_000096.4(CP):c.2389del:p.Glu797fs	coding	Pathogenic
3	149183608	T	TAA	C149183620A	CP	NM_000096.4(CP):c.2286-14_2286-13dup	noncoding	Benign
3	149183619	AC	A	C149183620A	CP	NM_000096.4(CP):c.2286-15del	noncoding	Benign
3	149185282	GTGGGGAATAATCCCATTCCACCTCCACTGCTGCGATATAGTATGTCCTCTCTCCCAGGTAGAAGGTGGAATCCTCAGACTGCCGCCTGCATTGGTTCACAGTATATTTTTGCTTCATGCCGCCTGTGTAATGATCAGTTGTAAGGCATTCAACATTAAAAGTCCCTGGAGTGGTAAATAAGAAAACATGTCACTTCTTTGCTAGTGCCCTCTGGGGCTCTCCACCTTCCTCAGAATTA	G	T149185283A	CP	NM_000096.4(CP):c.2078-74_2241del	coding	Pathogenic
3	149185338	AG	A	G149185340T	CP	NM_000096.4(CP):c.2185del:p.Leu729fs	coding	Pathogenic
3	149186167	ATGAAAAGTTTAGGTGCAGAATATTTATGGGAGTCATTCCCCTTCTAGTCTGATTTTCCAGCTATCTTTAAAAGGACCATAATCTAAAAAGGGATCATCTTGAGGAGCCTATGGAAGTGGAGAAAACCACACCATGTTCTTTTACTCCACATTGTCCTCAGTAACTAGGAAACAGACCTATCTGGTACATACTTCAGCTGATAGTGGCCTAGACTTGCTCTTTCAAAGATAGGAAGGGCACTTCAGAGGCTTGGGGAAGGGATAAGTTTATCACCCAACACATTCTGCTACAGGATTTTAAACCAAAACTACACAAATCCATCCAATAGAGACTTGGCTTTAAGTAAATATACCCTCTGTGTCAGGCCACATGTGGAGCGTAAGACTTGTTTGAGGGAAGAGGTTTGCTGTGTCTCTCCGTTCTCCTCTCCACAGATATGTGTTTCCTGAAAAGTATATTCCATGTACATCGGCCTCATTTCCGGCGCTGAATAAGTACCACACGACCGAATCTCCTTTGCACATAGTGAGACCCGGCTGATTCCCATACATGAATCCATTCATGGCTGTAAAAGTTGGGAAATAACATTTTGGAAGTGGTTTAGATTCTACTACATGACAACCTCACAGACTTTCCAGGACCAACTTTGTTTTTTTAATTTTTAAAAGACCTATTCAGGCTTGCCCACGCTTTATGTGTCAGGAGTATCCTTGCAACTCCTTGTGGTTCCTGGCATTTCAGAGCAGCCGCTGGCTGAAAGGAGCAGAGCTGAATGCATAGTTCTTGTTCTATGCTAGTGTCCCTAGCAACCTGGGAATCCCACTGCTCTTCCTGGCTAAAACAATGATTCTGTTAT	A	G149186169T	CP	NM_000096.4(CP):c.1865-291_2077+352del	noncoding	Pathogenic
3	149186528	TC	T	C149186529A	CP	NM_000096.4(CP):c.2068del:p.Asp690fs	coding	Pathogenic
3	149186530	AG	A	G149186532C	CP	NM_000096.4(CP):c.2066del:p.Pro689fs	coding	Pathogenic
3	149186678	TC	T	C149186679T	CP	NM_000096.4(CP):c.1918del:p.Asp640fs	coding	Pathogenic
3	149198466	CA	C	A149198467T	CP	NM_000096.4(CP):c.1613del:p.Met538fs	coding	Pathogenic
3	149198573	G	GCA	C149198579A	CP	NM_000096.4(CP):c.1503_1504TG[3]:p.Pro503fs	coding	Pathogenic
3	149202163	T	TGTGTA	C149202169G	CP	NM_000096.4(CP):c.1282_1286dup:p.Asp430fs	coding	Pathogenic
3	149202191	TAA	T	A149202192G	CP	NM_000096.4(CP):c.1257_1258del:p.Ser419_Tyr420insTer	coding	Pathogenic
3	149202239	T	TCA	T149202243A	CP	NM_000096.3(CP):c.1209_1210dupTG:p.Asp404Valfs	coding	Pathogenic
3	149210167	C	CT	A149210174T	CP	NM_000096.3(CP):c.606dupA:p.Asp203Argfs	coding	Pathogenic
3	150927631	TAC	T	C150927659T	CLRN1	NM_052995.2(CLRN1):c.342+406GT[13]	coding	Benign
3	150928056	GA	G	A150928060T	CLRN1	NM_174878.3(CLRN1):c.578del:p.Phe193fs	coding	Pathogenic
3	150928132	A	AT	C150928139T	CLRN1	NM_174878.3(CLRN1):c.502dup:p.Ile168fs	coding	Pathogenic/Likely_pathogenic
3	150928173	CAAT	C	A150928175T	CLRN1	NM_174878.3(CLRN1):c.459_461del:p.Ile153_Leu154delinsMet	coding	Pathogenic
3	150941656	ATGAAGAAGGC	A	A150941659T	CLRN1	NM_174878.3(CLRN1):c.349_358del:p.Ala117fs	coding	Pathogenic
3	150941709	AATGAC	A	G150941712T	CLRN1	NM_174878.3(CLRN1):c.301_305del:p.Val101fs	coding	Pathogenic/Likely_pathogenic
3	150941736	G	GA	T150941738A	CLRN1	NM_174878.3(CLRN1):c.278dup:p.Val95fs	coding	Pathogenic
3	150972498	CACCCTCTCCGTGGAAAAGCCCGT	C	C150972501T	CLRN1	NM_174878.3(CLRN1):c.188_210del:p.Tyr63fs	coding	Pathogenic
3	150972557	CCTG	ATTGGACA	C150972557A	CLRN1	NM_174878.3(CLRN1):c.149_152delinsTGTCCAAT:p.Ser50fs	coding	Pathogenic/Likely_pathogenic
3	150972572	A	AGCAGAGCTCCCGTTTT	G150972595C	CLRN1	NM_174878.3(CLRN1):c.121_136dup:p.Leu46fs	coding	Pathogenic
3	151188468	G	GC	T151188474C	MED12L	NM_053002.5(MED12L):c.1746dup:p.Ser583fs	coding	Pathogenic
3	151188473	C	CT	C151188475T	MED12L	NM_053002.5(MED12L):c.1747dup:p.Ser583fs	coding	Pathogenic
3	151338127	ATG	A	T151338128A	P2RY12	NM_053002.5(MED12L):c.2146-11931_2146-11930del	coding	Pathogenic
3	155116689	AC	A	C155116691T	MME	NM_000902.4(MME):c.467del:p.Pro156fs	coding	Pathogenic
3	155116750	CA	C	A155116755T	MME	NM_007289.4(MME):c.531del:p.Lys177fs	coding	Pathogenic
3	155116920	G	GA	G155116927A	MME	NM_007289.4(MME):c.594dup:p.Val199fs	coding	Pathogenic
3	155144435	C	CA	G155144442A	MME	NM_007289.4(MME):c.1400dup:p.Arg468fs	coding	Pathogenic
3	155829678	ACATACTTACCTCAACAGC	A	C155829679A	SLC33A1	NM_004733.4(SLC33A1):c.1474_1482+9del	noncoding	Pathogenic
3	155853383	T	TA	C155853386A	SLC33A1	NM_004733.4(SLC33A1):c.614dup:p.Leu205fs	coding	Pathogenic
3	155853454	CCA	C	C155853457G	SLC33A1	NM_004733.4(SLC33A1):c.540_541TG[1]:p.Val181fs	coding	Pathogenic
3	158646175	AAG	A	G158646177T	GFM1	NM_024996.7(GFM1):c.247_248del:p.Asp83fs	coding	Pathogenic
3	158646201	TC	T	C158646203A	GFM1	NM_024996.5(GFM1):c.273del:p.Met92fs	coding	Pathogenic
3	158646219	CAA	C	A158646221G	GFM1	NM_024996.5(GFM1):c.291_292del:p.Gly99fs	coding	Pathogenic
3	158646775	G	GCCCT	G158646780C	GFM1	NM_024996.5(GFM1):c.401_404dup:p.Arg136fs	coding	Pathogenic
3	158646860	T	TG	A158646862G	GFM1	NM_024996.7(GFM1):c.486dup:p.Lys163fs	coding	Pathogenic
3	158646894	T	TA	C158646897A	GFM1	NM_024996.5(GFM1):c.521dup:p.Asn174fs	coding	Pathogenic
3	158646911	TG	T	G158646914C	GFM1	NM_024996.7(GFM1):c.539del:p.Gly180fs	coding	Pathogenic
3	158652125	CT	C	T158652126G	GFM1	NM_024996.7(GFM1):c.720del:p.Glu241fs	coding	Pathogenic
3	158652141	GGCCACTGACCAC	TTAATTAATTAG	G158652141T	GFM1	NM_024996.7(GFM1):c.735_747delinsTTAATTAATTAG:p.Ala246_His249delinsTer	coding	Pathogenic
3	158658982	GACACCATCTATA	G	C158658987A	GFM1	NM_024996.7(GFM1):c.1149_1160del:p.Ile384_Thr387del	coding	Pathogenic
3	158660906	T	TGCATTGTTTGGCATTGACTGTGC	T158660930G	GFM1	NM_024996.7(GFM1):c.1255_1277dup:p.Ser427fs	coding	Pathogenic
3	158660945	CACAG	C	G158660949A	GFM1	NM_024996.7(GFM1):c.1297_1300del:p.Asp433fs	coding	Pathogenic
3	158665356	CA	C	A158665360G	GFM1	NM_024996.7(GFM1):c.1404del:p.Gly469fs	coding	Pathogenic
3	158666380	CT	C	T158666381G	GFM1	NM_024996.5(GFM1):c.1596del:p.Val533fs	coding	Pathogenic
3	158684521	CAG	C	A158684522G	GFM1	NM_024996.7(GFM1):c.1765-2_1765-1del	noncoding	Pathogenic
3	160258644	GA	G	A160258654G	IFT80	NM_020800.3(IFT80):c.2224-10del	noncoding	Benign/Likely_benign
3	160277443	AT	A	T160277449A	IFT80	NM_020800.3(IFT80):c.1961del:p.Asn654fs	coding	Pathogenic
3	160301010	TA	T	A160301013T	IFT80	NM_020800.3(IFT80):c.1187del:p.Leu396fs	coding	Pathogenic
3	160319847	A	AT	C160319851T	IFT80	NM_020800.3(IFT80):c.869dup:p.Asn290fs	coding	Pathogenic
3	160366101	TAAAG	T	A160366104C	IFT80	NM_020800.3(IFT80):c.487_490del:p.Leu163fs	coding	Pathogenic
3	160425022	A	ATGTG	A160425054G	SMC4	NM_001002800.3(SMC4):c.2478+4TG[17]	noncoding	Benign
3	160425022	A	ATGTGTGTGTGTGTGTG	A160425054G	SMC4	NM_001002800.3(SMC4):c.2478+4TG[23]	noncoding	Benign
3	165068841	TA	T	A165068849G	SI	NM_001041.4(SI):c.374-11del	noncoding	Benign
3	165773088	G	GA	C165773094A	BCHE	NM_000055.4(BCHE):c.*293dup	noncoding	Benign
3	165830599	A	CT	A165830599C	BCHE	NM_000055.2(BCHE):c.435delTinsAG:p.Phe146Valfs	coding	Pathogenic
3	165830933	AT	A	T165830935A	BCHE	NM_000055.4(BCHE):c.100del:p.Ile34fs	coding	Pathogenic
3	167684380	ATT	A	T167684382A	PDCD10	NM_007217.4(PDCD10):c.565_566del:p.Asn189fs	coding	Pathogenic
3	167687226	GTACT	G	A167687232G	PDCD10	NM_007217.4(PDCD10):c.557+4_557+7del	noncoding	Pathogenic
3	167687621	G	GT	C167687624T	PDCD10	NM_007217.4(PDCD10):c.467dup:p.Asn156fs	coding	Pathogenic
3	167695620	C	CT	G167695622T	PDCD10	NM_007217.4(PDCD10):c.370dup:p.Arg124fs	coding	Pathogenic
3	167695657	G	GT	A167695661T	PDCD10	NM_007217.4(PDCD10):c.333dup:p.Gln112fs	coding	Pathogenic
3	167695691	GA	G	A167695693T	PDCD10	NM_007217.4(PDCD10):c.299del:p.Phe100fs	coding	Pathogenic
3	167697113	TTTTC	T	C167697117T	PDCD10	NM_007217.4(PDCD10):c.160_163del:p.Glu54fs	coding	Pathogenic
3	169763862	ATCCTAAGGAATTGAAGGTATGGATTTGGGACGGAATTACCTTGTCGTGATAAGTGGGCAGAATGGCCTGTTTGTTTCTTTCAACCTAGTGGGCCATTAGCTTATTTTCTTAAAGGAAATCAGAGCCAATTCTTGTGGGAGACTGCCGGCTGGGAGGGTTGGGGGTGGGGGGTGTGGAATAAATTTCTTTTCCGTCTTTCATTATGCCTAGTGTTCCGTTATTGGAACGCTAAGCTTGTGGGGGTTATATCCTACTGCTCAAGGTCATCGCCAAGGTCTAATTTTTCAAAAAAGAAACTTCTAACCTCTGGCATAAACCGATGACCATTAAAGGAACACAATTTCCAATGTTCATTTAGATCTTCTAATTAAATATTCATTAAATGTTAAATGATCTCTCAAAAAAAAATGACTGTTCTCCCACACCCCGTTGAGGGGACTGGTCGAGATCTACCTTGGGAGAAGCAAAAACCTCAACAAAATCTGCAGAGCAGGAACTAAGTTGTAATACAACCATAAAAGGCAACAAAAAGCGGAAGACGGGAGAACCCACGCAGGAACGGCTCCAGGCAACCCCGGCTCACTGCCCATTCATTTTGGCCGACTTTGGAGGTGCCTTCACGTCTCCTGCCAATTTGCAGCACACTGGCCCAGTCAGTCAGGTTTGGGGGTTCACAAGCCCCCATTGCCGGCGAGGGGTGACGGATGCGCACGATCGGCGTTCCCCCCACCAACAGGAAAGCGAACTGCATGTGTGAGCCGAGTCCTGGGTGCACGTCCCACAGCTCAGGGAATCGCGCCGCGCGCGGGGACTCGCTCCGT	A	A169763867C	TERC	NR_001566.1(TERC):n.374_1194del821	noncoding	Pathogenic
3	169764653	GA	TT	G169764653T	TERC	NR_001566.1(TERC):n.407_408delinsAA	noncoding	Pathogenic
3	169764668	CGG	C	G169764671A	TERC	NR_001566.1(TERC):n.391_392del	noncoding	Pathogenic
3	169764740	GGCTGACAGAGCCCAACTCTTCGCGGTGGCAGTGGGTGCCTCCGGAGAAGCCCCGGGCCGACCGCGGCCTCCAGGCGGGGTTCGGGGGCTGGGCAGGCGACCCGCCGCAGGTCCCCGGGAGGGGCGAACGGGCCAGCAGCTGACATTTTTTGTTTGCTCTAGAATGAACGGTGGAAGGCGGCAGGCCGAGGCTTTTCCGCCCGCTGAAAGTCAGCGAGAAAAACAGCGCGCGGGGAGCAAAAGCACGGCGCCTACGCCCTTCTCAGTTAGGGTTAGACAAAAAATGGCCACCACCCCTCCCAGGCCCACCCTCCGCAACCCGGTGCGCTGCCGGGCGAGTCGGCTTATAAAGGGAGCGGCCGCCGACCGCACGGATTGGCCAAGCTGACTCTCGCGGCTCTCGTGAGAGTCACTCTCTCGGGCGGGCTGGTTGGGGGGAACGGGAAATTAAAGTTCCATTTCCGGCCATGAGGAAGGACGTTGCCCTTCCGCACGTCCGGGAAAGGCTTTGCGTCTTTACTTCCGACCTTCTTTAAAGGTGAAACTAACTTGAGGTATCAGAGGGCCTTTTTTCTATCCTCTGCAGACCAGACGCGGTTCACCTCGACTACCTTAAAAATGGAATTCACAGGAAGATTTTAGGGCCTAAGACACAGAACACTAATTCCTAGTTTTGATCATCACATTTTTTGGAGAACTTTGTGAAAATAGATTCCCAGGCAGCACTGACTACAGCAGAATCTTGTCTCGGCTCAGTGGGATGCGTCCGAGTTCCTACCCTGCCCCCTTCTCCTTAGAATGCCTTCTCCAGCCTCTCCTTGAGCAGAGGATGGCTTTAATCAAGTGTAACTACTACATTATTAATCTTAAGGACTGAATCTCCCTTTTATTAGGAAAGAAAGGCGTTTCAATCATTGACTTTGCTTTAAAGTAGTGCTGTGTCTTGATGAGGTAAAAAGAGGGGAGTAATCCACCATAAATTGTAACGATTTTTTTTTTTGAGACGGAGTCTTGCTCTTTCGCCCAGGCTGGATGGAGTCTAGTGGCGTGATCTCGGCTCACTGCAACCTCTGCCTCCCGGGTTCAAGCGATTCTCGTGTCTCAGCCTCCTGAGTAGCTGGGATTACAGGCGCCTGCCACCACGCCCAGCTAGTTTTTGTGTTTTTAGTAGAGACGGGGGTTTCACCATGTTGCCCAGGCTGGTCTCGAACGCCAGGGCTCAAGTGATCCACCCGCTTCGGCCTCCCAAAGTGCTGGGATTACAGGTATGAGCCACCGCACCCGGCCGCGAATTTTTATAATGGCCAGTATAGTGCAGTTTTACATATAAATGACAGGATGATCTTAAAAGTTTTACTCGTATTCAGTTAGATAAACTCCGTGGAGTTGTCGCTGTCGGTCCTCGATCTGAAAGAAAAGTAAAATATCTCCCTCTCCATCTCTCTCCCTCCTTCTCTCTCTCCCATCCCCTTTTTCTTTCATAGCATCTGCCAGGTTGTAAAGTTTTTTACGGACAGAATCTGACTCCTGTTTTTAGCACTATTGCACTTAGCACAGTACCTTACATAGAGTAGATGCTAAATGCTTTGAGTTATATGTCAACACTACCACCATTCTCTTAGCATCCCACATTATCTCAAACCCTTCTTTCCCCTTCATATCTAAGTAGGCACTAAATCTTGTCAGTTTTCATAATTTCTTTTTTTAAATTCCTATTGCTTATAATCTTGAGTACAAGACTTGGCACTTTATATGTGGACTAGTAACTTTCTAACTGATCACCAAATCTCCAGGGCCTTCCTCATTCAATTTATTCTCCAAACTATCACATTCATCATAACATAGTTTCCTTATGGCTCCTGCTTTTAAATCTTTAATTTCTCTCCTTTGCATATTGGATATTTAGCACTTTAAGCCTTTCAGTCCCTGGCCTTCACTTAACCTTGCTAGTCATAGCGCTTGTTCTGCTCTATATGAGCTCTTGACTTGAACAAAATCAGTCTAAACTTAGGCGTGGTGGTGCATACCTGTGGATTCAGTTACTTGGGAGGCTGAGGGCAGAGCCCAGGAGTTGGAGGCTGCAGTGAGCTATGATTGCACTACTGCACTCCAGCCTGGGACACAGGGCAAGACTCTGCCTCTAAAACTAAATAAATGAATAAATACATACATAAACAAAAATTTTAAAAACAAAATCAGTCTATTAAACATGCCCTGAATATGCTTTGTTCATTCTCATCTTTAGCAACTTGTTCATTTTAGTATGCTTGCCTGGATATCTGCGCTCCATCCCAATGCCACCCCTTCCATGATGGCATACCTCTGCTATGGAGTCTCGTTCCTCACCACAGCAACCTTCTTTCCCTAAACTTCAATAAGCTTAAATCTTATCACTCATTTGGCACATAGCATATTGTACCACAAATGCTCTCTTCCAAGGGAAATATAAGCTCACCAACGTCAAGTTATAGAAGAAACACTATGGGAAACATTATTTTAACTTGGTTCTACTCAATAGACATCTGTTCTTGAGCTTCACCATTATTATCCCCCAAACCCATTATAGAAATACAACAGAAATATTGGCATCCCAATAGGTGAAGTATTTTCTCTTCTCCCAGAAACATATAATATCCAAAGTTTTCTGTCACATATACTCAAAACATTTTCTTCCAACCATTTTATCTGTATTTCAGAAGCATCTTTGGTGTACTATGTTGGGTCCAACTTCTTTAAATTCTGCAGCAGTGATCCACATGTCCTGGAAGGCAGACAAGGATGCAAGAATAGAACCTCCCATCCACACTGATATTTTCCTTTCTGGAGGAGCTATAACTTGCACAGCGGTGTTGGCAGGAGCCACCTTTGCTATATCCTTAACTAACCGCTTGTCTAAACCAGGGAAAGAGGTTGATCCCCCGGCAAGGATAATATTGGAAAAGAAGGAATTCCTCAGGCCTGTATCACATTTCATTAT	G	A169764745C	TERC;ACTRT3;LOC110806306	NM_032487.4(ACTRT3):c.831_*2687del2976	noncoding	Pathogenic
3	169764831	GGCAGGCGACCCGCC	G	C169764837T	TERC	NR_001566.1(TERC):n.216_229del	noncoding	Pathogenic
3	169764935	TCCGC	T	C169764940T	TERC	NR_001566.1(TERC):n.122_125delGCGG	noncoding	Pathogenic
3	169764937	CGCCCGCTGAAAGTCA	C	C169764940G	TERC	NR_001566.1(TERC):n.109_123del	noncoding	Pathogenic
3	169764953	GC	CT	G169764953C	TERC	NR_001566.1(TERC):n.107_108delinsAG	noncoding	Pathogenic
3	169764963	CAG	C	A169764964C	TERC	NR_001566.1(TERC):n.96_97del	noncoding	Pathogenic
3	169764973	GGAGCAAAAGCACGGCGCCTACGCCCTTCTCAGTTA	G	A169764975G	TERC	NR_001566.1(TERC):n.53_87del	noncoding	Pathogenic
3	169764981	AG	A	G169764982C	TERC	NR_001566.1(TERC):n.79del	noncoding	Pathogenic
3	169764986	G	GGCGCCT	A169764993G	TERC	NR_001566.1(TERC):n.69_74dup	noncoding	Pathogenic
3	169765026	GCCACCAC	G	A169765029C	TERC;LOC110806306	NR_001566.1(TERC):n.28_34del	noncoding	Pathogenic
3	169765298	CAG	C	A169765301G	TERC	NR_001566.1(TERC):n.-240_-239del	noncoding	Pathogenic
3	170998207	AAC	A	C170998211G	SLC2A2	NM_000340.2(SLC2A2):c.1356_1357GT[1]:p.Cys453fs	coding	Pathogenic
3	171002600	T	TA	C171002602A	SLC2A2	NM_000340.2(SLC2A2):c.1043dup:p.Asn349fs	coding	Pathogenic
3	171002673	T	TA	T171002680A	SLC2A2	NM_000340.2(SLC2A2):c.970dup:p.Tyr324fs	coding	Pathogenic
3	171006006	AAAAG	A	A171006008G	SLC2A2	NM_000340.2(SLC2A2):c.708_711del:p.Phe237fs	coding	Pathogenic
3	171014600	AG	A	G171014604T	SLC2A2	NM_000340.2(SLC2A2):c.239del:p.Pro80fs	coding	Pathogenic
3	171014658	A	ATAACATAGTTGTTGATAGCTTTTCGG	C171014686A	SLC2A2	NM_000340.2(SLC2A2):c.156_181dup:p.Ile61fs	coding	Pathogenic
3	171688729	CTG	C	T171688732A	PLD1	NM_002662.5(PLD1):c.1482_1483CA[1]:p.Thr495fs	coding	Pathogenic
3	172443280	GT	G	T172443293A	GHSR	NM_198407.2(GHSR):c.*1880delA	noncoding	Benign
3	172444592	TTTCTGTAA	T	T172444593G	GHSR	NM_198407.2(GHSR):c.*561_*568del	noncoding	Benign
3	177033021	A	ACCTG	A177033028T	TBL1XR1	NM_024665.7(TBL1XR1):c.1362_1365dup:p.Tyr456fs	coding	Pathogenic
3	177046179	A	AT	A177046181T	TBL1XR1	NM_024665.6(TBL1XR1):c.874dup:p.Ile292fs	coding	Pathogenic
3	177050069	TACTA	T	A177050073G	TBL1XR1	NM_024665.7(TBL1XR1):c.626_629del:p.Leu209fs	coding	Pathogenic
3	177051573	G	GGCTGGCTGCAGCTGCGGCAGCTGCAGCAGCT	C177051609G	TBL1XR1	NM_024665.7(TBL1XR1):c.327_357dup:p.Gln120fs	coding	Pathogenic
3	179210289	TAGA	T	A179210293T	PIK3CA	NM_006218.4(PIK3CA):c.1356_1358AGA[1]:p.Glu453del	coding	Pathogenic
3	179229419	C	CA	G179229423A	PIK3CA	NM_006218.4(PIK3CA):c.2646dup:p.Asp883fs	coding	Pathogenic
3	179234358	G	GA	C179234361A	PIK3CA	NM_006218.4(PIK3CA):c.3203dup:p.Asn1068fs	coding	Pathogenic
3	179242978	CT	C	T179242982C	KCNMB3	NM_001163677.1(KCNMB3):c.453+1516del	coding	Benign
3	179401322	GA	G	A179401331T	GNB4	NM_021629.4(GNB4):c.917-4del	noncoding	Benign
3	179420934	T	TA	T179420942A	GNB4	NM_021629.4(GNB4):c.58-14dup	noncoding	Benign
3	180616289	T	TA	G180616291A	CCDC39	NM_181426.2(CCDC39):c.2660dup:p.Ser888fs	coding	Benign/Likely_benign
3	180616593	CTT	C	T180616595G	CCDC39	NM_181426.2(CCDC39):c.2507_2508del:p.Lys836fs	coding	Pathogenic
3	180616603	CTG	C	G180616605T	CCDC39	NM_181426.2(CCDC39):c.2497_2498del:p.Gln833fs	coding	Pathogenic
3	180616869	TCTTTA	T	T180616873A	CCDC39	NM_181426.2(CCDC39):c.2358_2362del:p.Ser786fs	coding	Pathogenic
3	180616873	TAC	A	T180616873A	TTC14;CCDC39	NM_181426.2(CCDC39):c.2357_2359delinsT:p.Ser786fs	coding	Pathogenic
3	180616904	T	TG	A180616906G	CCDC39	NM_181426.2(CCDC39):c.2327dup:p.Glu777fs	coding	Pathogenic
3	180619333	CT	C	T180619335C	CCDC39	NM_181426.2(CCDC39):c.2190del:p.Glu731fs	coding	Pathogenic
3	180641994	TTA	T	A180641996G	CCDC39	NM_181426.2(CCDC39):c.1871_1872del:p.Ile624fs	coding	Pathogenic
3	180642018	CA	C	A180642019T	CCDC39	NM_181426.2(CCDC39):c.1848del:p.Arg615_Tyr616insTer	coding	Pathogenic
3	180642033	AC	A	C180642034G	CCDC39	NM_181426.2(CCDC39):c.1833del:p.Ser612fs	coding	Pathogenic
3	180642110	TC	T	C180642111T	CCDC39	NM_181426.2(CCDC39):c.1756del:p.Glu586fs	coding	Pathogenic
3	180642122	AC	A	C180642123T	CCDC39	NM_181426.2(CCDC39):c.1744del:p.Val582fs	coding	Pathogenic
3	180644140	TA	T	A180644141T	CCDC39	NM_181426.2(CCDC39):c.1644del:p.Asp548fs	coding	Pathogenic
3	180647255	T	TA	G180647267A	CCDC39	NM_181426.2(CCDC39):c.1363-23dup	noncoding	Benign/Likely_benign
3	180648215	G	GT	A180648217T	CCDC39	NM_181426.2(CCDC39):c.1311dup:p.Gln438fs	coding	Pathogenic
3	180648266	ATAAAACAGCTTTTTCTT	CC	A180648266C	CCDC39	NM_181426.2(CCDC39):c.1244_1261delinsGG:p.Lys415fs	coding	Pathogenic
3	180648284	TC	T	C180648285A	CCDC39	NM_181426.2(CCDC39):c.1242del:p.Met414fs	coding	Pathogenic
3	180651408	TC	T	C180651409T	CCDC39	NM_181426.2(CCDC39):c.1159del:p.Asp387fs	coding	Pathogenic
3	180651491	TTTTG	T	T180651497A	CCDC39	NM_181426.2(CCDC39):c.1069_1072CAAA[1]:p.Thr358fs	coding	Pathogenic
3	180651495	GT	G	T180651498G	CCDC39	NM_181426.2(CCDC39):c.1072del:p.Thr358fs	coding	Pathogenic
3	180651522	GT	G	T180651528G	CCDC39	NM_181426.2(CCDC39):c.1045del:p.Thr349fs	coding	Pathogenic
3	180651532	AC	A	C180651534T	CCDC39	NM_181426.1(CCDC39):c.1035delG:p.Arg345Serfs	coding	Pathogenic
3	180652245	CAGTGGCT	C	A180652246T	CCDC39	NM_181426.2(CCDC39):c.945_951del:p.Lys315_Ala316insTer	coding	Pathogenic
3	180654860	CTG	C	G180654864T	CCDC39	NM_181426.2(CCDC39):c.828_829CA[1]:p.Thr277fs	coding	Pathogenic/Likely_pathogenic
3	180659576	TCTAA	T	A180659579G	CCDC39	NM_181426.2(CCDC39):c.610_613del:p.Leu204Asnfs	coding	Pathogenic
3	180659694	C	CTG	A180659698G	CCDC39	NM_181426.2(CCDC39):c.590_591dup:p.Glu198fs	coding	Pathogenic
3	180659714	ATC	A	C180659716T	CCDC39	NM_181426.2(CCDC39):c.570_571del:p.Lys190fs	coding	Pathogenic
3	180659737	CAA	C	A180659739G	CCDC39	NM_181426.2(CCDC39):c.547_548del:p.Leu183fs	coding	Pathogenic
3	180659758	CAG	C	A180659761T	CCDC39	NM_181426.2(CCDC39):c.524_525CT[1]:p.Leu176fs	coding	Pathogenic
3	180660634	GC	G	C180660635T	CCDC39	NM_181426.2(CCDC39):c.451del:p.Ala151fs	coding	Pathogenic
3	180663912	CAT	C	T180663914G	CCDC39	NM_181426.2(CCDC39):c.163_164del:p.Met55fs	coding	Pathogenic
3	180971145	TAGAC	T	A180971148C	FXR1	NM_005087.4(FXR1):c.1603+790_1603+793del	noncoding	Pathogenic
3	180984690	CT	C	T180984691G	DNAJC19	NM_145261.4(DNAJC19):c.300del:p.Ala101fs	coding	Pathogenic
3	180988181	CA	C	A180988184T	DNAJC19	NM_145261.4(DNAJC19):c.51del:p.Phe17fs	coding	Pathogenic
3	181712336	GGCCGGGCCCGCGCACAGCGCCCGCATGTACAACATGATGGAGACGGAGCTGAAGCC	G	G181712348A	SOX2	NM_003106.4(SOX2):c.-13_43del:p.Met1fs	noncoding	Pathogenic
3	181712362	T	TG	T181712364G	SOX2	NM_003106.4(SOX2):c.3dup:p.Tyr2fs	coding	Pathogenic
3	181712413	C	CG	C181712420G	SOX2	NM_003106.4(SOX2):c.59dup:p.Gly21fs	coding	Pathogenic
3	181712413	C	CGG	C181712420G	SOX2	NM_003106.4(SOX2):c.58_59dup:p.Gly21fs	coding	Pathogenic
3	181712413	CG	C	G181712419C	SOX2	NM_003106.4(SOX2):c.59del:p.Gly20fs	coding	Pathogenic
3	181712417	G	GGGCGGCGGCGGCAACTCCACCGC	C181712450G	SOX2	NM_003106.4(SOX2):c.67_89dup:p.Gly31fs	coding	Pathogenic
3	181712418	GGCGGCGGCGGCAACTCCACC	G	A181712430C	SOX2	NM_003106.4(SOX2):c.70_89del:p.Asn24fs	coding	Pathogenic
3	181712418	GG	T	G181712418T	SOX2	NM_003106.4(SOX2):c.58_59delinsT:p.Gly20fs	coding	Pathogenic
3	181712421	GGCGGCGGCAACTCCACC	G	A181712430G	SOX2	NM_003106.4(SOX2):c.70_86del:p.Asn24fs	coding	Pathogenic
3	181712439	G	GCGGCGGCGGC	A181712457G	SOX2	NM_003106.4(SOX2):c.87_96dup:p.Asn33fs	coding	Pathogenic
3	181712503	TC	AA	T181712503A	SOX2	NM_003106.4(SOX2):c.143_144delinsAA:p.Phe48Ter	coding	Pathogenic
3	181712514	T	TC	G181712518C	SOX2	NM_003106.4(SOX2):c.157dup:p.Arg53fs	coding	Pathogenic
3	181712557	T	TG	C181712559G	SOX2	NM_003106.4(SOX2):c.198dup:p.His67fs	coding	Pathogenic
3	181712601	CTT	C	T181712604G	SOX2	NM_003106.4(SOX2):c.244_245del:p.Leu82fs	coding	Pathogenic
3	181712641	C	CT	A181712643T	SOX2	NM_003106.4(SOX2):c.282dup:p.Lys95Ter	coding	Pathogenic
3	181712672	GCACC	G	A181712674G	SOX2;SOX2-OT	NM_003106.4(SOX2):c.314_317del:p.His105fs	coding	Pathogenic
3	181712744	CGG	C	G181712745C	SOX2	NM_003106.4(SOX2):c.385_386del:p.Gly129fs	coding	Pathogenic
3	181712744	CGGCG	C	G181712748T	SOX2	NM_003106.4(SOX2):c.388_391del:p.Gly130fs	coding	Pathogenic
3	181712757	GC	G	C181712762G	SOX2	NM_003106.4(SOX2):c.402del:p.Gly135fs	coding	Pathogenic
3	181712843	G	GCA	T181712848C	SOX2	NM_003106.4(SOX2):c.486_487dup:p.Met163fs	coding	Pathogenic
3	181712877	A	ATGATG	C181712883T	SOX2	NM_003106.4(SOX2):c.518_522dup:p.Gln175Ter	coding	Pathogenic
3	181712896	G	GCTACC	G181712903T	SOX2	NM_003106.4(SOX2):c.538_542dup:p.Gln182fs	coding	Pathogenic
3	181712899	AC	A	C181712902G	SOX2	NM_003106.4(SOX2):c.542del:p.Pro181fs	coding	Pathogenic
3	181712908	AC	A	C181712911G	SOX2	NM_003106.4(SOX2):c.551del:p.Pro184fs	coding	Pathogenic
3	181712942	GC	TT	G181712942T	SOX2	NM_003106.4(SOX2):c.582_583delinsTT:p.Met194_Gln195delinsIleTer	coding	Pathogenic
3	181713187	TG	T	G181713188T	SOX2	NM_003106.4(SOX2):c.828del:p.Met276fs	coding	Pathogenic
3	181713193	TC	T	C181713197G	SOX2	NM_003106.4(SOX2):c.837del:p.Gly280fs	coding	Pathogenic
3	181713201	GCCGAGGTGCCGGAACCCGC	ACCTCGG	G181713201A	SOX2	NM_003106.4(SOX2):c.841_860delinsACCTCGG:p.Ala281fs	coding	Pathogenic
3	181713275	CACGGCCATTA	C	C181713281A	SOX2	NM_003106.4(SOX2):c.921_930del:p.Ile308fs	coding	Pathogenic
3	181713299	CCT	C	T181713303A	SOX2	NM_003106.4(SOX2):c.943_944del:p.Ser315fs	coding	Pathogenic
3	181713300	CT	C	T181713301C	SOX2	NM_003106.4(SOX2):c.941del:p.Leu314fs	coding	Pathogenic
3	183015530	TC	T	C183015531T	MCCC1	NM_020166.5(MCCC1):c.2085del:p.Val697fs	coding	Pathogenic
3	183015536	CT	C	T183015537G	MCCC1	NM_020166.5(MCCC1):c.2079del:p.Thr693_Val694insTer	coding	Pathogenic
3	183020101	ACATCATTCTACAGATGTCATGTGATTACCTTTT	A	T183020104A	MCCC1	NM_020166.5(MCCC1):c.1973_1977+28del	noncoding	Pathogenic/Likely_pathogenic
3	183020169	CT	C	T183020170G	MCCC1	NM_020166.5(MCCC1):c.1937del:p.Gln646fs	coding	Pathogenic
3	183020201	AT	A	T183020204G	MCCC1	NM_020166.5(MCCC1):c.1905del:p.Lys635fs	coding	Pathogenic
3	183022421	GA	G	A183022425T	MCCC1	NM_020166.5(MCCC1):c.1864del:p.Ser622fs	coding	Pathogenic
3	183022453	CAGCTTCGCTTTACT	C	T183022457A	MCCC1	NM_020166.5(MCCC1):c.1819_1832del:p.Ser607fs	coding	Pathogenic
3	183033992	G	GT	A183033998T	MCCC1	NM_020166.5(MCCC1):c.1679dup:p.Asn560fs	coding	Pathogenic
3	183037267	GAGACCCAGGGCTGCCTGGCATAA	G	C183037272T	MCCC1	NM_020166.5(MCCC1):c.1522_1544del:p.Leu508fs	coding	Pathogenic
3	183037285	GC	G	C183037286A	MCCC1	NM_020166.5(MCCC1):c.1526del:p.Cys509fs	coding	Pathogenic
3	183039039	AG	A	G183039041C	MCCC1	NM_020166.5(MCCC1):c.1363del:p.Leu455fs	coding	Pathogenic
3	183041570	GCCGTACT	G	G183041573A	MCCC1	NM_020166.5(MCCC1):c.1257_1263del:p.Val420fs	coding	Pathogenic
3	183041570	G	GC	G183041573C	MCCC1	NM_020166.5(MCCC1):c.1263dup:p.Gln422fs	coding	Pathogenic
3	183041623	T	TG	C183041625G	MCCC1	NM_020166.5(MCCC1):c.1210dup:p.His404fs	coding	Pathogenic
3	183041639	CCA	C	C183041642G	MCCC1	NM_020166.5(MCCC1):c.1191_1192TG[1]:p.Val398fs	coding	Pathogenic
3	183045421	GC	G	C183045423A	MCCC1	NM_020166.5(MCCC1):c.1074del:p.Trp358fs	coding	Pathogenic
3	183045507	TTA	T	A183045509G	MCCC1	NM_020166.5(MCCC1):c.987_988del:p.His329fs	coding	Pathogenic
3	183057311	CG	C	G183057312C	MCCC1	NM_020166.5(MCCC1):c.872del:p.Ala291fs	coding	Pathogenic
3	183071018	TCTC	GCTATGCTAT	T183071018G	MCCC1	NM_020166.5(MCCC1):c.739_742delinsATAGCATAGC:p.Glu247_Lys248delinsIleAlaTer	coding	Pathogenic
3	183071055	AG	A	G183071056C	MCCC1	NM_020166.5(MCCC1):c.704del:p.Ala235fs	coding	Pathogenic
3	183071074	TCTAA	T	A183071077G	MCCC1	NM_020166.5(MCCC1):c.682_685del:p.Leu228fs	coding	Pathogenic
3	183071290	AT	A	T183071292G	MCCC1	NM_020166.5(MCCC1):c.558del:p.Gln186fs	coding	Pathogenic
3	183072430	TAC	GT	T183072430G	MCCC1	NM_020166.5(MCCC1):c.425_427delinsAC:p.Cys142fs	coding	Pathogenic
3	183092453	CCA	C	C183092456G	MCCC1	NM_020166.5(MCCC1):c.227_228del:p.Val76fs	coding	Pathogenic
3	183092509	CCT	C	C183092512G	MCCC1	NM_020166.5(MCCC1):c.169_170AG[1]:p.Gly58fs	coding	Pathogenic
3	184059998	CA	C	A184059999G	HTR3C	NM_130770.3(HTR3C):c.1097del:p.Gln366fs	coding	Benign
3	184142822	GCA	CC	G184142822C	EIF2B5	NM_003907.3(EIF2B5):c.1590_1592delinsCC:p.Glu530fs	coding	Pathogenic
3	184145296	AAG	A	A184145303T	EIF2B5	NM_003907.3(EIF2B5):c.*354_*355AG[3]	noncoding	Benign
3	184170087	CG	C	G184170092C	DVL3	NM_004423.4(DVL3):c.1585del:p.Ala529fs	coding	Pathogenic
3	184170095	GC	G	C184170099T	DVL3	NM_004423.4(DVL3):c.1592del:p.Pro531fs	coding	Pathogenic
3	184170319	GC	G	C184170320A	DVL3	NM_004423.4(DVL3):c.1716del:p.Ser573fs	coding	Pathogenic
3	184170331	GTGGCTCCAACCGTAGCGGCAGCGAT	G	T184170332C	DVL3	NM_004423.4(DVL3):c.1728_1752del:p.Ser578fs	coding	Pathogenic
3	184170352	GCGAT	G	A184170355G	DVL3	NM_004423.4(DVL3):c.1751_1754del:p.Asp584fs	coding	Pathogenic
3	184170352	GC	G	C184170353G	DVL3	NM_004423.4(DVL3):c.1749del:p.Ser583fs	coding	Pathogenic
3	184248741	TCACATGCCACCCTGTGAATGACCCAGAAGGTGATGCC	T	A184248745C	ALG3	NM_005787.6(ALG3):c.163_196+3del	noncoding	Pathogenic
3	184352006	G	GCC	T184352010C	CLCN2	NM_004366.6(CLCN2):c.2415+4_2415+5dup	noncoding	Benign/Likely_benign
3	184353038	GGA	G	G184353039C	CLCN2	NM_004366.6(CLCN2):c.2136_2137del:p.Pro713fs	coding	Pathogenic
3	184354631	TCA	T	A184354633C	CLCN2	NM_004366.6(CLCN2):c.1422_1423del:p.Glu475fs	coding	Pathogenic
3	184355395	CA	C	A184355396G	CLCN2	NM_004366.6(CLCN2):c.1304del:p.Leu435fs	coding	Pathogenic
3	184355720	CA	C	A184355721G	CLCN2	NM_004366.6(CLCN2):c.1143del:p.Gly382fs	coding	Pathogenic
3	184355751	G	ATGAGCAGT	G184355751A	CLCN2	NM_004366.6(CLCN2):c.1113delinsACTGCTCAT:p.Ser375fs	coding	Pathogenic
3	184357431	G	GC	A184357434C	CLCN2	NM_004366.6(CLCN2):c.828dup:p.Arg277fs	coding	Pathogenic
3	184357832	TGCTTGCGATATGCACAAAAGGGCCCTGCGGGGTGGGGCAGGCGGTGAGTCGGGAGGGGGCCCGCCCTGACCTTGGCCTGGCCTCCTCTTCCACCAGGAGGGACTCCTTCATTCCCCAGCCTGCAGTTACCTCTTTGCCAAGCGGCATCCCGCTGCCTAGGGCGCAGGTCAGCCCAATGACCTTAGCTATAAAGGTCTTGAGTGTGAGGTATTCTTTCAGCACCACTCCCCGCAAGATGGTCTTCATCTCAGGGATGCCAGAGCCTGGAGAGGGAACAGTCTCAGGAGAGGCATTCGATGCACCCATTTCAGGGGTCCCGCCTCTGCCCTCCCCTTCTCTTCTAACATACCGACAGCCTGAGGGGCCAGGATCTGTGTGAATCCGGCTGAGAAAGTGATGAGGACAACAGGGTAGGTGACCCAGGCCAGGTACTGGAGCAAGATGCTGGTGTTCAAGCCCCGGGACATCCACTGCTGGGCTGTGGGAAGAGGACCTGCTGGACCCCCAGTGCACACACCCACTGCCTGCCTGGCCAGTGGACCACGCTGATACGACAGGCTGTCCCAGGGAGTACCACACAGAGTCAGGGCATGGGTGAAGGAAAGGGTCCCTGAGGGTATTCACTGGGACAAAGCGCAATCTAGGCAAGAGGATCACTTGGAGAGGGGATGCAAGAAGCTGTGCCCTGTGGGAGTGGCCGAGATGATGCCTGAATCTGGGCAGTCAGACTGGCTGGGGAAAGTGGTCAGTGGCCAAGAAGCCAAGACGCCTTCCTCCATGTCTAGACGAGTGTGGCATGGACGCAGGAGGTTTATTCCCAGTCCTCCCCCTGCCAGCTGTCACCCTCACCTTGCAGACAGGCAGCAATGGCATAGTCCATGACCCAGCTGACCAATGCCATGAGAAGCCCCAGCAGGACCAGGAAGATCCAATCTTCACCAACCCTGGATACTAGGAACTTGTGGCAGCGGACAGAACAGACTGGGTGCAGGGAAGGGAAGAAGGGGGAGGATGGCACCAAAGTGCTCCTACCCCTTTTACTGCCCCCTCAACTGTCCCCTCTCCCCCATCAGCAGCTCTAATGGCCTCTGCTTCCCTCAGCACAGCACAGCCAGGTCCCCTGCCCCCACCCCAGTTCTCACCGCGGCATCGGGCGCAACGGCTCCGTCCATATTCCAAGAGCTCTGGGGCAGCCCGAGAGGAAGGGGGACCTTTCCAGGGTTCAGGCCCTCCCAGGCGAATCCGAGCAGCTTCCTCTTTGGCAAAGGCCCCAAGGTCCTGAGTGTACCGGCCATACATCTGGAGCAACAGAGGGGATGGGGGCATTCGAGGTCATGGGCTGAGTGGGAACGCAGGGAGAGTTCTTAGAGCCTCCACTCCTCTTCTCCCAGCCCCCACACTGGATATCCCTCTTGAACGCACAGTTCCCACTCTGGCCCGAGGTGTGGGAACAATGCACATTGCAGACTGTGGAGGCTGTCCTGGCCAGAGTGATGGGGACAGCCAAGGTACAGGGACACAGCTCTGGGGGTGGCAGAATAATCGGTCCTCTTCTCACAGGCCTGGGGCTGGGGCACTGAAGAGGAGTGAGAGGGAAGCCCCAGAAGAGGAAAAGGTGGAAAAACCTGTGGCACAGTCTAAAAGTGGGAGGCGGGAAGGCCAGGGAGTAAGGGATGATCAGGGGCACATGGGCAACAATAAGAGCCTCGTGGAGCTCGGGGCAGCTGAGTTGGGCCCAGGAGCAGGCGCAGCCCCAATCCTTATCACGTTCCTGCTGGGCCTCCGGCCTGTGACCAACTCAGCTGCACCTCTCCCACCCACCCTAATCCCCTTGTCCCCATTCTCCACTGCCACCCCCACCAGCCTGCCAGCCCAGCTGGGAGTGGAAAGCCTCTCACTTAGGGTGGGTGGAGAGGGCTTGGTGGCCTCAGCCCCATTCTGGAGCTGCACTGAGCCCAGCGGTGGGTTGGGGGACAGCGGAGGCTGAGGATGGCTGGGCTGTGACTGTGGATGCTGGGGTGATGGGACGGGAGAGTCGCCTGAACCATGGCTAGACCTGCCAAGCTGGGCGTGTGTTGGGGGGCGGGGAGGAGTAGATTCTGGCTGCCACCCGCAGAGCTTCGGGACACAAAGGGCTCCTGTTGGGGCTGGGATGGGGGGGAGGGAGGGAGGGAAAGATAGAGACAGAGAGAGGGTGAGAGATAGGAAAGGGAAAGCAAAGAGAAGAGAGGGAACTAGAGAGGAGAAAGTAGAAGAGAAAAGAGAGGGAAGGCGAAGGGATGGAGAAGAGAAAGAAGGGGATGAGAGAGGAAGAAGTACGGAGGAGGAAGAGAATGGAGAGTATTAAGAGGCAAGCACGGTGTAGGAGGAGGGAGGTGAGAGTGGGAGAGAAAGACAAAGGGATAG	T	C184357834A	CLCN2	NM_004366.6(CLCN2):c.64-1107_639del	coding	Pathogenic
3	184358227	TGATGAG	T	T184358230C	CLCN2	NM_004366.6(CLCN2):c.430_435del:p.Leu144_Ile145del	coding	Pathogenic
3	184373595	T	TGGAA	A184373601G	THPO	NM_000460.4(THPO):c.229-17_229-14dup	noncoding	Benign/Likely_benign
3	184711345	A	ATCCTCC	A184711367T	MAGEF1	NM_022149.5(MAGEF1):c.456_458GGA[9]:p.Glu157_Glu158dup	coding	Benign
3	184711769	T	TC	T184711775C	MAGEF1	NM_022149.5(MAGEF1):c.52dup:p.Glu18fs	coding	Benign
3	185524128	CTA	C	A185524130G	LIPH	NM_139248.3(LIPH):c.659_660del:p.Ile220fs	coding	Pathogenic
3	186539588	AG	TT	A186539588T	CRYGS	NM_017541.4(CRYGS):c.30_31delinsAA:p.Phe10_Tyr11delinsLeuAsn	coding	Pathogenic
3	186572192	C	CTT	G186572193T	DNAJB11	NM_016306.5(DNAJB11):c.166_167insTT:p.Arg56fs	coding	Pathogenic
3	186581392	GC	G	C186581393A	DNAJB11	NM_016306.5(DNAJB11):c.479del:p.Ala160fs	coding	Pathogenic
3	186677158	GATC	G	A186677168C	HRG	NM_000412.5(HRG):c.854_856ATC[3]:p.His288del	coding	Benign
3	187253247	C	CT	G187253249T	MASP1	NM_139125.4(MASP1):c.812dup:p.Ser272fs	coding	Pathogenic
3	187260769	GA	G	A187260770T	MASP1	NM_139125.4(MASP1):c.518del:p.Ile173fs	coding	Pathogenic
3	189738631	CTA	C	A189738633G	TP63	NM_003722.5(TP63):c.192-9_192-8del	noncoding	Benign/Likely_benign
3	189789825	CA	C	A189789826G	TP63	NM_003722.5(TP63):c.325-18446del	coding	Pathogenic
3	189864349	AAAG	A	A189864350C	TP63	NM_003722.5(TP63):c.698_700del:p.Lys233_Ala234delinsThr	coding	Pathogenic
3	189866732	G	GCC	A189866736C	TP63	NM_003722.5(TP63):c.819_820dup:p.Gln274fs	coding	Pathogenic
3	189886317	AGAGACCTGTTGAAAATCAATAGTCCCCACTCTTCAGTGTCCCTTGCTCACCATTATTTCCATGTTTGTCTTCCTAGGACCTCAATACAGTCTCCATCTTCATATGGTAACAGCTCCCCACCTCTGAACAAAATGAACAGCATGAACAAGCTGCCTTCTGTGAGCCAGCTTATCAACCCTCAGCAGCGCAACGCCCTCACTCCTACAACCATTCCTGAT	A	A189886319G	TP63	NM_003722.5(TP63):c.1350-75_1492del	noncoding	Pathogenic
3	189894294	CCCCTT	C	C189894296T	TP63	NM_003722.5(TP63):c.1837_1841del:p.Pro613fs	coding	Pathogenic
3	189894304	TC	T	C189894305T	TP63	NM_003722.5(TP63):c.1846del:p.Leu616fs	coding	Pathogenic
3	189894418	AC	A	C189894422G	TP63	NM_003722.5(TP63):c.1963del:p.Arg655fs	coding	Pathogenic
3	189896345	T	TA	T189896347A	TP63	NM_003722.5(TP63):c.*1844dup	noncoding	Benign
3	189897039	AT	A	T189897046C	TP63	NM_003722.5(TP63):c.*2544del	noncoding	Benign
3	189971980	CT	C	T189971981G	P3H2	NM_018192.4(P3H2):c.1726del:p.Ser576fs	coding	Pathogenic
3	189974681	AC	A	C189974683A	P3H2	NM_018192.4(P3H2):c.1328del:p.Gly443fs	coding	Pathogenic
3	189995450	G	GA	T189995460A	P3H2	NM_018192.4(P3H2):c.481-17dup	noncoding	Benign
3	190120434	CG	C	G190120440C	P3H2	NM_018192.4(P3H2):c.297del:p.Gly100fs	coding	Pathogenic
3	190312901	AC	A	C190312902A	CLDN1	NM_021101.5(CLDN1):c.358del:p.Val120fs	coding	Pathogenic
3	190322005	CAA	C	A190322007G	CLDN1	NM_021101.5(CLDN1):c.200_201del:p.Val66_Phe67insTer	coding	Pathogenic
3	190388282	AG	A	G190388285C	CLDN16	NM_006580.3(CLDN16):c.166del:p.Ala56fs	coding	Benign/Likely_benign
3	190404877	C	CATTA	A190404883T	CLDN16	NM_006580.3(CLDN16):c.545_548dup:p.Lys183delinsAsnTer	coding	Pathogenic
3	190408397	CT	C	T190408399G	CLDN16	NM_006580.3(CLDN16):c.678del:p.Gly227fs	coding	Pathogenic
3	192170661	AG	A	G192170663A	FGF12	NM_004113.6(FGF12):c.229-6del	noncoding	Benign
3	193275045	CA	C	A193275046G	ATP13A5	NM_198505.4(ATP13A5):c.3653del:p.Leu1218fs	coding	Benign
3	193614945	CA	C	A193614946G	OPA1	NM_015560.2(OPA1):c.256del:p.Arg86fs	coding	Pathogenic
3	193614979	CTCTTAAAACT	C	T193614982G	OPA1	NM_001354663.2(OPA1):c.-81_-72del	coding	Pathogenic
3	193617260	CTT	ATA	C193617260A	OPA1	NM_130831.3(OPA1):c.448+1490_448+1492delinsATA	coding	Pathogenic
3	193631620	CAA	C	A193631622G	OPA1	NM_130831.3(OPA1):c.527_528del:p.Lys176fs	coding	Pathogenic
3	193631622	AAG	A	G193631626A	OPA1	NM_015560.2(OPA1):c.639_640del	coding	Pathogenic
3	193637200	TTTGA	T	T193637205C	OPA1	NM_130831.3(OPA1):c.682_685TTGA[1]:p.Ile229fs	coding	Pathogenic
3	193637282	GT	G	T193637283A	OPA1	NM_015560.2(OPA1):c.870+2del	noncoding	Pathogenic
3	193642771	C	CT	G193642773T	OPA1	NM_130837.3(OPA1):c.1157dup:p.Ser387fs	coding	Pathogenic
3	193642975	C	CTT	G193642978T	OPA1	NM_015560.2(OPA1):c.1067_1068dup:p.Ala357fs	coding	Pathogenic
3	193643440	TTAATG	T	T193643444G	OPA1	NM_015560.2(OPA1):c.1212_1212+4del	coding	Pathogenic
3	193643538	C	CA	G193643540A	OPA1	NM_015560.2(OPA1):c.1224dup:p.Gly409fs	coding	Pathogenic
3	193643607	CCAT	C	C193643611A	OPA1	NM_130831.3(OPA1):c.1185_1187CAT[1]:p.Ile397del	coding	Pathogenic
3	193644012	CT	C	T193644014G	OPA1	NM_015560.2(OPA1):c.1352del:p.Leu451fs	coding	Pathogenic
3	193644014	TG	T	G193644016T	OPA1	NM_015560.2(OPA1):c.1354del:p.Val452fs	coding	Pathogenic
3	193644069	AGACCTGGCAGAGAAAAATGTAGCCAGTCCAAGCAGGGT	A	C193644072G	OPA1	NM_130837.3(OPA1):c.1575_1608+4del	coding	Pathogenic
3	193645742	A	TTC	A193645742T	OPA1	NM_015560.2(OPA1):c.1531delinsTTC:p.Ser511fs	coding	Pathogenic
3	193645774	G	GT	C193645781T	OPA1	NM_130837.3(OPA1):c.1734dup:p.Gln579fs	coding	Pathogenic
3	193645774	GT	G	T193645780C	OPA1	NM_015560.2(OPA1):c.1569del:p.Gln524fs	coding	Pathogenic
3	193647123	GA	G	A193647124C	OPA1	NM_015560.2(OPA1):c.1649del:p.Asp550fs	coding	Pathogenic
3	193657123	CAG	C	G193657125A	OPA1	NM_015560.2(OPA1):c.2059_2060del:p.Glu687fs	coding	Pathogenic
3	193657185	GA	G	A193657188G	OPA1	NM_130837.3(OPA1):c.2287del:p.Ser763fs	coding	Pathogenic
3	193657214	CTT	C	T193657216G	OPA1	NM_015560.2(OPA1):c.2150_2151del:p.Phe717fs	coding	Pathogenic
3	193658957	AT	A	T193658961A	OPA1	NM_015560.2(OPA1):c.2241del:p.Phe747fs	coding	Pathogenic
3	193659550	A	AC	A193659554C	OPA1	NM_130837.3(OPA1):c.2512dup:p.Gln838fs	coding	Pathogenic
3	193662847	AAT	A	A193662848T	OPA1	NM_015560.2(OPA1):c.2382_2383del:p.Glu794fs	coding	Pathogenic
3	193662966	AT	GTAAC	A193662966G	OPA1	NM_015560.2(OPA1):c.2496+4_2496+5delinsGTAAC	noncoding	Pathogenic
3	193666332	C	CA	G193666334A	OPA1	NM_015560.2(OPA1):c.2651dup:p.Arg885fs	coding	Pathogenic
3	193667167	CAGTT	C	T193667170G	OPA1	NM_015560.2(OPA1):c.2708_2711delTTAG	noncoding	Pathogenic
3	193667187	AATGTT	A	T193667189A	OPA1	NM_015560.2(OPA1):c.2727_2731del:p.Asn909fs	coding	Pathogenic
3	193667216	TGAAGATGGTGAGAA	T	G193667223T	OPA1	NM_015560.2(OPA1):c.2761_2774del:p.Asp920_Gly921insTer	coding	Pathogenic
3	193667258	CGTTCA	C	G193667259A	OPA1	NM_130837.3(OPA1):c.2962_2966del:p.Val988fs	coding	Pathogenic
3	193692064	GAA	G	A193692066G	OPA1	NM_015560.2(OPA1):c.2822_2823del:p.Lys941fs	coding	Pathogenic
3	193692066	AAGTT	A	T193692069A	OPA1	NM_130831.3(OPA1):c.2717_2720del:p.Val906fs	coding	Pathogenic
3	193692068	GT	G	T193692070A	OPA1	NM_015560.2(OPA1):c.2826del:p.Arg943fs	coding	Pathogenic
3	193692088	A	ACTTGATG	T193692099G	OPA1	NM_015560.2(OPA1):c.2848_2854dup:p.Phe952Ter	coding	Pathogenic
3	193692091	TGA	T	G193692092T	OPA1	NM_015560.2(OPA1):c.2848_2849del:p.Asp950fs	coding	Pathogenic
3	194646248	GGA	G	G194646253A	LSG1	NM_018385.3(LSG1):c.1544-11TC[2]	noncoding	Benign
3	196238823	G	GC	T196238825C	PCYT1A	NM_001312673.2(PCYT1A):c.968dup:p.Ser323fs	coding	Pathogenic
3	196318053	C	AG	C196318053A	DYNLT2B	NM_152773.5(DYNLT2B):c.100delinsCT:p.Val34fs	coding	Pathogenic
3	196472208	CTTGT	C	G196472211A	RNF168	NM_152617.4(RNF168):c.1323_1326del:p.Gln442fs	coding	Pathogenic
3	196487559	G	GC	G196487563C	RNF168	NM_152617.4(RNF168):c.397dup:p.Ala133fs	coding	Pathogenic
3	196659830	AC	A	C196659833T	NRROS	NM_198565.3(NRROS):c.190del:p.Leu64fs	coding	Pathogenic
3	196660899	CT	C	T196660900G	NRROS	NM_198565.3(NRROS):c.1257del:p.Gly420fs	coding	Pathogenic
3	196661286	TG	T	G196661287A	NRROS	NM_198565.3(NRROS):c.1644del:p.Thr549fs	coding	Pathogenic
3	196661622	GC	G	C196661624T	NRROS	NM_198565.3(NRROS):c.1981del:p.Leu661fs	coding	Pathogenic
3	196707860	G	GT	A196707862T	CEP19	NM_032898.5(CEP19):c.182dup:p.Tyr61Ter	coding	Pathogenic
3	197676906	AG	A	G197676907C	RUBCN	NM_014687.4(RUBCN):c.2624del:p.Ala875fs	coding	Pathogenic
3	197951263	CAG	C	G197951265A	RPL35A	NM_000996.4(RPL35A):c.118_119del:p.Glu40fs	coding	Pathogenic
3	197954094	GC	G	C197954096A	RPL35A	NM_000996.4(RPL35A):c.258del:p.Lys87fs	coding	Pathogenic
4	500581	G	GT	A500584T	PIGG	NM_001127178.3(PIGG):c.342dup:p.Thr115fs	coding	Pathogenic
4	505720	ATTGATGACGGGGAGCC	A	G505723C	PIGG	NM_001127178.3(PIGG):c.366_381del:p.Leu122fs	coding	Pathogenic
4	521814	G	GT	C521817T	PIGG	NM_001127178.3(PIGG):c.1489dup:p.Ser497fs	coding	Pathogenic
4	521906	AC	G	A521906G	PIGG	NM_001127178.3(PIGG):c.1579_1580delinsG:p.Thr527fs	coding	Pathogenic
4	523580	ACTTC	A	C523584G	PIGG	NM_001127178.3(PIGG):c.1740_1743del:p.Phe580fs	coding	Pathogenic
4	533869	TTA	T	T533870G	PIGG	NM_001127178.3(PIGG):c.2624_2625del:p.Gly874_Leu875insTer	coding	Pathogenic
4	625745	GCCCGC	G	C625747G	PDE6B	NM_000283.4(PDE6B):c.121_125del:p.Pro41fs	coding	Pathogenic
4	625794	C	CACGGCGCTGCTGGAGCTGGTGCAGGATATGCAGGAGAGCATCAACATGGAGCGCGTGGTCTTCAAGGTCCT	G625866A	PDE6B	NM_000283.3(PDE6B):c.169_239dup:p.Leu83fs	coding	Pathogenic
4	625800	G	GCTGCTGGAGCTGGTGCAGGATATGCAGGAGAGCATCAACATGGAGCGCGTGGTCTTCAAGGTCCTGCGGCGC	C625875G	PDE6B	NM_000283.3(PDE6B):c.177_248dup:p.Leu60_Leu83dup	coding	Pathogenic
4	625847	G	GC	G625849C	PDE6B	NM_000283.3(PDE6B):c.222dup:p.Val75fs	coding	Pathogenic
4	655987	A	ACG	T655990C	PDE6B	NM_000283.3(PDE6B):c.1041_1042dup:p.Val348fs	coding	Pathogenic
4	656293	G	GT	A656295T	PDE6B	NM_000283.3(PDE6B):c.1107+2dup	noncoding	Pathogenic
4	656913	GTGCTGTCCATGCCCATCGTCAACAAGAAGGAGGAGAT	G	C656916T	PDE6B	NM_000283.4(PDE6B):c.1150_1186del:p.Leu384fs	coding	Pathogenic
4	657494	GGTGCGGCGGGGCAGGACGTCCAGGGGTCACCCAGGGGTCACGGCT	G	C657498T	PDE6B	NM_000283.3(PDE6B):c.1401+4_1401+48del	coding	Benign
4	658965	GC	G	C658967T	PDE6B	NM_000283.3(PDE6B):c.1417del:p.Leu473fs	coding	Pathogenic
4	660481	A	AG	C660485G	PDE6B	NM_000283.3(PDE6B):c.1485dup:p.Pro496fs	coding	Pathogenic
4	660484	GC	G	C660487A	PDE6B	NM_000283.3(PDE6B):c.1488del:p.Thr497fs	coding	Pathogenic
4	660538	AC	A	C660539T	PDE6B	NM_000283.3(PDE6B):c.1540del:p.Leu514fs	coding	Pathogenic
4	663126	AC	A	C663127G	PDE6B	NM_000283.3(PDE6B):c.1860del:p.His620fs	coding	Pathogenic
4	663772	CCTGAACATCTACCAGAACCTGAACCGGCGGCAGCACGAGCACGTGATC	TCTGGGTA	C663772T	PDE6B	NM_001145291.1(PDE6B):c.1923_1971delinsTCTGGGTA:p.Asn643fs	coding	Pathogenic
4	663772	CCTGAACATCTACCAGAACCTGAACCGGCGGCAGCACGAGCACGTGA	TCTGGG	C663772T	PDE6B	NM_001145291.1(PDE6B):c.1923_1969delinsTCTGGG:p.Asn643fs	coding	Pathogenic
4	664207	GA	AT	G664207A	PDE6B	NM_000283.4(PDE6B):c.2115_2116delinsAT:p.Lys706Ter	coding	Pathogenic
4	987118	GCGCTCCTGGCCT	G	T987130G	IDUA	NM_000203.5(IDUA):c.46_57del:p.Ser16_Ala19del	coding	Pathogenic
4	987808	GC	G	C987814G	IDUA	NM_000203.5(IDUA):c.164del:p.Pro55fs	coding	Pathogenic
4	987808	G	GC	G987815C	IDUA	NM_000203.5(IDUA):c.164dup:p.Leu56fs	coding	Pathogenic
4	987819	C	CCACACAGCCAGGCTGACCAGTACGTCCTCAGCTGGGACCA	G987860C	IDUA	NM_000203.5(IDUA):c.170_209dup:p.Gln70delinsHisThrGlnProGlyTer	coding	Pathogenic
4	987840	TAC	T	A987841G	IDUA	NM_000203.5(IDUA):c.191_192del:p.Tyr64fs	coding	Pathogenic/Likely_pathogenic
4	987889	T	TC	T987893C	IDUA	NM_000203.5(IDUA):c.242dup:p.His82fs	coding	Pathogenic
4	1348177	AG	A	G1348178A	UVSSA	NM_020894.4(UVSSA):c.87del:p.Ile31fs	coding	Pathogenic
4	1728037	ACAAAGCGGAGACTCCGCACGGAGCCGAGGAAGAATG	A	A1728068G	TACC3	NM_006342.3(TACC3):c.666_701del:p.213_224KAETPHGAEEEC[1]	coding	Benign
4	1801941	GC	G	C1801945A	FGFR3	NM_000142.5(FGFR3):c.850del:p.His284fs	coding	Pathogenic
4	1904235	CT	C	T1904237G	NSD2	NM_001042424.3(NSD2):c.619del:p.Cys207fs	coding	Pathogenic
4	1935154	T	TG	A1935158G	NSD2	NM_001042424.3(NSD2):c.1569dup:p.Lys524fs	coding	Pathogenic
4	1935226	G	GA	G1935231A	NSD2	NM_001042424.3(NSD2):c.1642dup:p.Arg548fs	coding	Pathogenic
4	1938448	TAGAG	T	G1938452C	NSD2	NM_133330.2(NSD2):c.1676_1679del	noncoding	Pathogenic
4	1953435	CTG	C	G1953437A	NSD2	NM_001042424.3(NSD2):c.2251_2252del:p.Val751fs	coding	Pathogenic
4	1975338	G	GA	C1975345A	NSD2	NM_001042424.3(NSD2):c.3565dup:p.Thr1189fs	coding	Pathogenic
4	1984928	C	CA	G1984930A	NELFA	NM_005663.5(NELFA):c.925-10dup	noncoding	Benign
4	2059711	CGGGGGGCGCGGGGCCGCCG	C	G2059723C	NAT8L	NM_178557.4(NAT8L):c.212_230del:p.Gly71fs	coding	Pathogenic
4	2072975	TG	T	G2072976C	POLN	NM_181808.4(POLN):c.2509del:p.Gln837fs	coding	Benign
4	3074876	C	CCAGCAGCAGCAGCAGCAG	A3074936G	HTT	NM_002111.6(HTT):c.52CAG[(?_25)]	coding	Benign
4	3074876	C	CCAGCAGCAGCAGCAGCAGCAGCAG	A3074936G	HTT	NM_002111.8(HTT):c.52CAG[(27_35)]:p.Gln18_Gln38delinsGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGln	coding	Pathogenic
4	3074876	C	CCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG	A3074936G	HTT	NC_000004.11:g.3076606GCA[(40_?)]	coding	Pathogenic
4	3074923	AGC	A	G3074924A	HTT	NM_002111.8(HTT):c.105_106del:p.Gln36fs	coding	Benign
4	3074926	AGCAG	A	G3074927C	HTT	NM_002111.8(HTT):c.108_111del:p.Gln36fs	coding	Benign
4	3074945	A	ACCG	T3074969G	HTT	NM_002111.8(HTT):c.129_131GCC[8]:p.Pro51dup	coding	Benign
4	3463401	GC	G	C3463403A	DOK7	NM_173660.5(DOK7):c.28del:p.Gln10fs	coding	Pathogenic
4	3463442	CGGGGGCGCGGGGGGG	C	G3463454C	DOK7	NM_173660.5(DOK7):c.54+25_55-38del	noncoding	Pathogenic
4	3463450	CGG	C	G3463461C	DOK7	NM_173660.5(DOK7):c.54+32_54+33del	noncoding	Benign
4	3463450	CGGG	C	G3463460C	DOK7	NM_173660.5(DOK7):c.54+31_54+33del	noncoding	Benign
4	3476221	GCCCCGCCTGCCCGTGATGCCCTCTCACCCCACCCGCCCGTGATGCCCTCTCA	G	G3476226A	DOK7	NM_173660.5(DOK7):c.332-116_332-65del	noncoding	Benign
4	3476490	C	CGG	C3476495G	DOK7	NM_173660.5(DOK7):c.483_484dup:p.Ala162fs	coding	Pathogenic
4	3485551	TCTTC	T	T3485554G	DOK7	NM_173660.5(DOK7):c.548_551del:p.Phe183fs	coding	Pathogenic
4	3485601	AT	A	T3485602C	DOK7	NM_173660.5(DOK7):c.596del:p.Ile199fs	coding	Pathogenic
4	3489765	C	CCTCT	A3489771T	DOK7	NM_173660.5(DOK7):c.743_744TC[4]:p.His250fs	coding	Pathogenic
4	3490112	A	ATTCATTCCTTTCTTCACCCC	T3490124C	DOK7	NM_173660.5(DOK7):c.772+327_772+328insCTTCACCCCTTCATTCCTTT	noncoding	Benign
4	3492722	AC	A	C3492727A	DOK7	NM_173660.5(DOK7):c.773-32del	noncoding	Benign
4	3492795	CCA	C	C3492796G	DOK7	NM_173660.5(DOK7):c.810_811del:p.His272fs	coding	Pathogenic
4	3492907	CG	C	G3492911A	DOK7	NM_173660.5(DOK7):c.925del:p.Glu309fs	coding	Pathogenic
4	3492937	AC	A	C3492943A	DOK7	NM_173660.5(DOK7):c.957del:p.Lys320fs	coding	Pathogenic
4	3493006	C	CGCCACTGGCAGCCACTCCT	C3493026G	DOK7	NM_173660.5(DOK7):c.1021_1039dup:p.Ser347fs	coding	Pathogenic
4	3493106	A	AGCCT	A3493114T	DOK7	NM_173660.5(DOK7):c.1124_1127dup:p.Ala378fs	coding	Pathogenic
4	3493119	C	CG	C3493125G	DOK7	NM_173660.5(DOK7):c.1138dup:p.Ala380fs	coding	Pathogenic
4	3493124	GC	G	C3493129G	DOK7	NM_173660.5(DOK7):c.1143del:p.Glu382fs	coding	Pathogenic
4	3493124	G	GC	G3493130C	DOK7	NM_173660.5(DOK7):c.1143dup:p.Glu382fs	coding	Pathogenic
4	3493242	G	GC	T3493250C	DOK7	NM_173660.5(DOK7):c.1263dup:p.Ser422fs	coding	Pathogenic
4	3493273	TGCGGCCAGGGACTCAG	T	G3493282A	DOK7	NM_173660.5(DOK7):c.1296_1311del:p.Asp433fs	coding	Pathogenic
4	3493316	T	TCTGG	G3493329C	DOK7	NM_173660.5(DOK7):c.1331_1334CTGG[4]:p.Gly448fs	coding	Pathogenic
4	3493340	C	CG	C3493345G	DOK7	NM_173660.5(DOK7):c.1358dup:p.Leu454fs	coding	Pathogenic
4	3493393	T	TGCCCC	T3493399G	DOK7	NM_173660.5(DOK7):c.1408_1412dup:p.Gly472fs	coding	Pathogenic
4	3493461	G	GTCCAGTCTGT	G3493472T	DOK7	NM_173660.5(DOK7):c.1476_1485dup:p.Gly496fs	coding	Pathogenic/Likely_pathogenic
4	3514898	CGA	C	G3514899T	LRPAP1	NM_002337.4(LRPAP1):c.863_864del:p.Ile288fs	coding	Pathogenic
4	3518179	GT	G	T3518181C	LRPAP1	NM_002337.4(LRPAP1):c.605del:p.Asn202fs	coding	Pathogenic
4	3532213	TG	T	G3532216C	LRPAP1	NM_002337.4(LRPAP1):c.199del:p.Gln67fs	coding	Pathogenic
4	4859979	G	GA	G4859981A	MSX1	NM_002448.3(MSX1):c.81dup:p.Gly28fs	coding	Pathogenic
4	4862885	ATGGTT	A	T4862886C	MSX1	NM_002448.3(MSX1):c.655_659del:p.Trp219fs	coding	Pathogenic
4	4863139	C	CAT	G4863143T	MSX1	NM_002448.3(MSX1):c.910_911dup:p.Ter304TyrextTer?	coding	Pathogenic
4	5562981	AG	A	G5562982A	EVC2	NM_147127.5(EVC2):c.3793del:p.Leu1265fs	coding	Pathogenic
4	5562995	TG	T	G5562996C	EVC2	NM_147127.5(EVC2):c.3779del:p.Ala1260fs	coding	Pathogenic
4	5563012	CA	C	A5563013G	EVC2	NM_147127.5(EVC2):c.3762del:p.Val1255fs	coding	Pathogenic
4	5563114	TG	T	G5563115C	EVC2	NM_147127.5(EVC2):c.3660del:p.Ser1220fs	coding	Pathogenic
4	5565276	GC	G	C5565279A	EVC2	NM_147127.5(EVC2):c.3640del:p.Ala1214fs	coding	Pathogenic
4	5565283	G	TC	G5565283T	EVC2	NM_147127.5(EVC2):c.3634delinsGA:p.Leu1212fs	coding	Pathogenic
4	5568539	C	CTGAGGCTG	G5568558A	EVC2	NM_147127.5(EVC2):c.3446_3453CAGCCTCA[3]:p.Gln1154fs	coding	Pathogenic
4	5568545	C	CTGTGAGGCTG	G5568558T	EVC2	NM_147127.5(EVC2):c.3446_3455dup:p.Gln1152fs	coding	Pathogenic
4	5568589	TGGCCCCG	T	C5568593A	EVC2	NM_147127.5(EVC2):c.3405_3411del:p.Gly1136fs	coding	Pathogenic
4	5574698	G	GT	G5574701T	EVC2	NM_147127.5(EVC2):c.3346dup:p.Thr1116fs	coding	Pathogenic
4	5576404	CTCCTGCTGCACCAGCTGGTCCTCCAGCT	C	G5576409C	EVC2	NM_147127.5(EVC2):c.3080_3107del:p.Lys1027fs	coding	Pathogenic
4	5615504	CT	C	T5615508A	EVC2	NM_147127.5(EVC2):c.2746del:p.Ser916fs	coding	Pathogenic
4	5622643	CC	GT	C5622643G	EVC2	NM_147127.5(EVC2):c.2394_2395delinsAC:p.Asp799His	coding	Benign
4	5622967	CCT	C	C5622968G	EVC2	NM_147127.5(EVC2):c.2069_2070del:p.Gln690fs	coding	Pathogenic
4	5622981	T	TG	C5622983G	EVC2	NM_147127.5(EVC2):c.2056dup:p.Gln686fs	coding	Pathogenic
4	5628731	T	TC	T5628733C	EVC2	NM_147127.5(EVC2):c.1713dup:p.Asn572fs	coding	Pathogenic
4	5628743	TAA	T	A5628753C	EVC2	NM_147127.5(EVC2):c.1711-11_1711-10del	noncoding	Benign
4	5631960	CGA	C	G5631965C	EVC2	NM_147127.5(EVC2):c.1541_1542del:p.Leu514fs	coding	Pathogenic
4	5640642	C	CA	G5640643A	EVC2	NM_147127.5(EVC2):c.1341_1342insT:p.Asp448Ter	coding	Pathogenic
4	5663071	CAT	C	A5663072G	EVC2	NM_147127.5(EVC2):c.1145+34_1145+35del	noncoding	Benign
4	5663141	CG	C	G5663143A	EVC2	NM_147127.5(EVC2):c.1110del:p.Glu371fs	coding	Pathogenic
4	5663354	AG	A	G5663355C	EVC2	NM_147127.5(EVC2):c.1006-109del	noncoding	Benign
4	5665625	CGTGGAGGCCGTGGTGCGGCAGAACCT	C	G5665632A	EVC2	NM_147127.5(EVC2):c.871-2_894del	coding	Pathogenic/Likely_pathogenic
4	5681279	GT	G	T5681281A	EVC2	NM_147127.5(EVC2):c.850del:p.Thr284fs	coding	Pathogenic
4	5681302	CTG	C	G5681306T	EVC2	NM_147127.5(EVC2):c.824_825CA[1]:p.Gln276fs	coding	Pathogenic
4	5681305	TGTTC	T	G5681306T	EVC2	NM_147127.5(EVC2):c.821_824del:p.Arg274fs	coding	Pathogenic
4	5691347	TAA	T	A5691350G	EVC2	NM_147127.5(EVC2):c.451-16_451-15del	noncoding	Benign
4	5694392	T	TA	T5694394A	EVC2	NM_147127.5(EVC2):c.392dup:p.Pro132fs	coding	Pathogenic
4	5708305	CCCGCCCCGCT	C	C5708314G	EVC2	NM_147127.5(EVC2):c.199_208del:p.Ser67fs	coding	Pathogenic/Likely_pathogenic
4	5708362	TGGGGATCCCG	T	G5708366T	EVC2	NM_147127.5(EVC2):c.142_151del:p.Asp49fs	coding	Pathogenic/Likely_pathogenic
4	5708387	C	CGAGGGGGCGCCAGCGGGGACGT	C5708413G	EVC2	NM_147127.5(EVC2):c.105_126dup:p.Gly43fs	coding	Pathogenic/Likely_pathogenic
4	5711534	CG	C	G5711535C	EVC	NM_153717.3(EVC):c.155del:p.Arg52fs	coding	Pathogenic
4	5733430	C	CA	T5733432A	EVC	NM_153717.3(EVC):c.698dup:p.His233fs	coding	Pathogenic/Likely_pathogenic
4	5741733	T	TA	T5741738A	EVC	NM_153717.3(EVC):c.724dup:p.Met242fs	coding	Pathogenic
4	5741746	CT	C	T5741748G	EVC	NM_153717.3(EVC):c.735del:p.Asp246fs	coding	Pathogenic
4	5741782	CTAT	TTAC	C5741782T	EVC	NM_153717.3(EVC):c.769_772delinsTTAC:p.Tyr258His	coding	Benign
4	5741809	G	GA	G5741815A	EVC	NM_153717.3(EVC):c.801dup:p.Asp268fs	coding	Pathogenic
4	5745186	TTTC	T	T5745199A	EVC	NM_153717.3(EVC):c.802-17TTC[4]	noncoding	Benign
4	5745188	TC	T	C5745189T	EVC	NM_153717.3(EVC):c.802-15del	noncoding	Benign
4	5745274	C	CT	G5745276T	EVC	NM_153717.3(EVC):c.873dup:p.Glu292Ter	coding	Pathogenic
4	5745305	GAAGGAG	TC	G5745305T	EVC	NM_153717.3(EVC):c.903_909delinsTC:p.Lys301fs	coding	Pathogenic
4	5745323	TGA	T	G5745324A	EVC	NM_153717.3(EVC):c.922_923del:p.Glu308fs	coding	Pathogenic
4	5748241	ACT	A	C5748244G	EVC	NM_153717.3(EVC):c.1034_1035CT[1]:p.Leu346fs	coding	Pathogenic
4	5748262	G	GCAGC	G5748268A	EVC	NM_153717.3(EVC):c.1056_1059dup:p.Glu354fs	coding	Pathogenic
4	5752994	GGA	AGTT	G5752994A	EVC	NM_153717.3(EVC):c.1257_1259delinsAGTT:p.Glu420fs	coding	Pathogenic
4	5753047	GC	G	C5753049G	EVC	NM_153717.3(EVC):c.1312del:p.Arg438fs	coding	Pathogenic
4	5753855	C	CA	C5753857A	EVC	NM_153717.3(EVC):c.1387dup:p.Thr463fs	coding	Pathogenic
4	5753871	G	GAGGAACAGAGA	C5753885G	EVC	NM_153717.3(EVC):c.1405_1415dup:p.Ser472fs	coding	Pathogenic
4	5753884	GC	G	C5753885T	EVC	NM_153717.3(EVC):c.1416del:p.Phe473fs	coding	Pathogenic
4	5756216	AA	C	A5756216C	EVC	NM_153717.3(EVC):c.1465-48_1465-47delinsC	noncoding	Benign
4	5756336	AC	A	C5756338G	EVC	NM_153717.3(EVC):c.1539del:p.Glu514fs	coding	Pathogenic
4	5756352	C	CA	C5756354A	EVC	NM_153717.3(EVC):c.1554dup:p.Leu519fs	coding	Pathogenic
4	5783681	GC	G	C5783682T	EVC	NM_153717.3(EVC):c.1694del:p.Ala565fs	coding	Pathogenic
4	5802020	CG	C	G5802021T	EVC	NM_153717.3(EVC):c.2376del:p.Tyr793fs	coding	Pathogenic
4	5802102	AC	A	C5802109T	EVC	NM_153717.3(EVC):c.2449+15del	noncoding	Benign/Likely_benign
4	5804735	AG	A	G5804737A	EVC	NM_153717.3(EVC):c.2457del:p.Met820fs	coding	Pathogenic
4	5812880	CT	C	T5812882G	EVC	NM_153717.3(EVC):c.*1845del	noncoding	Benign
4	6277575	GC	G	C6277579G	WFS1	NM_006005.3(WFS1):c.124del:p.Arg42fs	coding	Pathogenic
4	6289078	A	AGGGCCGTCGCGAGGCT	T6289096G	WFS1	NM_006005.3(WFS1):c.409_424dup:p.Val142fs	coding	Pathogenic
4	6289108	GC	G	C6289110G	WFS1	NM_006005.3(WFS1):c.439del:p.Arg147fs	coding	Pathogenic
4	6291028	C	CAGGGGCATG	G6291029A	WFS1	NM_006005.3(WFS1):c.461-169_461-168insAGGGGCATG	noncoding	Benign
4	6291031	G	GCA	A6291032C	WFS1	NM_006005.3(WFS1):c.461-166_461-165insCA	noncoding	Benign
4	6301022	GCTCT	G	C6301025G	WFS1	NM_006005.3(WFS1):c.1228_1229CT[1]:p.Val412fs	coding	Pathogenic
4	6301035	TTCG	T	G6301038A	WFS1	NM_006005.3(WFS1):c.1243_1245del:p.Val415del	coding	Pathogenic
4	6301156	ACACGCGCAGGGCCCTG	A	C6301157G	WFS1	NM_006005.3(WFS1):c.1362_1377del:p.Pro453_Tyr454insTer	coding	Pathogenic
4	6301174	CCACCGAGGT	C	A6301180C	WFS1	NM_006005.3(WFS1):c.1385_1393del:p.Glu462_Thr464del	coding	Pathogenic
4	6301235	C	CCTGAAGG	T6301243C	WFS1	NM_006005.3(WFS1):c.1441_1447dup:p.Val483fs	coding	Pathogenic
4	6301622	GT	G	T6301624G	WFS1	NM_006005.3(WFS1):c.1829del:p.Leu610fs	coding	Pathogenic
4	6301742	CTA	C	A6301744G	WFS1	NM_006005.3(WFS1):c.1949_1950del:p.Tyr650fs	coding	Pathogenic
4	6302018	C	CT	G6302020T	WFS1	NM_006005.3(WFS1):c.2224dup:p.Cys742fs	coding	Pathogenic
4	6302428	CCTTCGA	C	G6302433T	WFS1	NM_006005.3(WFS1):c.2638_2643del:p.Asp880_Phe881del	coding	Pathogenic
4	6302436	TTC	T	C6302438T	WFS1	NM_006005.3(WFS1):c.2643_2644del:p.Phe883fs	coding	Pathogenic
4	6302440	TTTTC	T	T6302443C	WFS1	NM_001145853.1(WFS1):c.2648_2651del:p.Phe883fs	coding	Pathogenic/Likely_pathogenic
4	13542486	CTG	C	T13542487G	NKX3-2	NM_001189.4(NKX3-2):c.507_508del:p.Gly171fs	coding	Pathogenic/Likely_pathogenic
4	13544077	G	GC	G13544084C	NKX3-2	NM_001189.4(NKX3-2):c.337dup:p.Ala113fs	coding	Pathogenic
4	13544078	CC	A	C13544078A	NKX3-2	NM_001189.4(NKX3-2):c.336_337delinsT:p.Ala113fs	coding	Pathogenic
4	13544304	CCCGGGCG	C	G13544314C	NKX3-2	NM_001189.4(NKX3-2):c.97_103CGCCCGG[1]:p.Ala35fs	coding	Pathogenic
4	15480754	CA	C	A15480756C	CC2D2A	NM_020785.2(CC2D2A):c.282del:p.Gln94fs	coding	Pathogenic
4	15480777	AG	A	G15480779A	CC2D2A	NM_020785.2(CC2D2A):c.305del:p.Gly102fs	coding	Pathogenic
4	15511353	CG	C	G15511356A	CC2D2A	NM_001080522.2(CC2D2A):c.650del:p.Gly217fs	coding	Pathogenic
4	15511381	GGAA	G	G15511391C	CC2D2A	NM_001378615.1(CC2D2A):c.676_678GAA[3]:p.Glu229del	coding	Benign/Likely_benign
4	15514821	CG	C	G15514823C	CC2D2A	NM_001080522.2(CC2D2A):c.834del:p.Leu279fs	coding	Pathogenic
4	15515928	TTT	C	T15515928C	CC2D2A	NM_001378615.1(CC2D2A):c.941_943delinsC:p.Leu314fs	coding	Pathogenic
4	15515949	AG	A	G15515951T	CC2D2A	NM_001080522.2(CC2D2A):c.964del:p.Val322fs	coding	Pathogenic
4	15516000	A	AC	G15516005C	CC2D2A	NM_001080522.2(CC2D2A):c.1017dup:p.Glu340Argfs	coding	Pathogenic
4	15527560	T	TGGCATGTTTTGGCAGCGA	A15527561G	CC2D2A	NM_001080522.2(CC2D2A):c.1263_1264insGGCATGTTTTGGCAGCGA:p.Ser422_Arg423insGlyMetPheTrpGlnArg	coding	Pathogenic
4	15527594	CAG	AA	C15527594A	CC2D2A	NM_001080522.2(CC2D2A):c.1297_1299delinsAA:p.Gln433fs	coding	Pathogenic
4	15533227	AAAG	A	A15533229T	CC2D2A	NM_001080522.2(CC2D2A):c.1503_1505del:p.Lys501_Asp502delinsAsn	coding	Pathogenic
4	15536975	GA	G	A15536978T	CC2D2A	NM_001080522.2(CC2D2A):c.1666del:p.Glu555_Ile556insTer	coding	Pathogenic
4	15550862	A	AGCAGAAGT	T15550872C	CC2D2A	NM_001378615.1(CC2D2A):c.2222_2229dup:p.Phe744fs	coding	Pathogenic
4	15563422	CG	C	G15563424A	CC2D2A	NM_001080522.2(CC2D2A):c.3084del:p.Lys1029fs	coding	Pathogenic
4	15567675	AG	A	G15567677T	CC2D2A	NM_001080522.2(CC2D2A):c.3289delG	noncoding	Pathogenic
4	15574297	C	CTGGT	C15574303G	CC2D2A	NM_001080522.2(CC2D2A):c.3744_3747dup:p.Pro1250fs	coding	Pathogenic
4	15579967	G	GT	G15579971T	CC2D2A	NM_001080522.2(CC2D2A):c.3774dup:p.Glu1259Ter	coding	Pathogenic
4	15580086	CTG	C	G15580088T	CC2D2A	NM_001080522.2(CC2D2A):c.3892_3893del:p.Val1298fs	coding	Pathogenic
4	15580170	CAGTA	C	A15580175T	CC2D2A	NM_001080522.2(CC2D2A):c.3975+4_3975+7del	coding	Pathogenic/Likely_pathogenic
4	15586199	GAC	G	A15586202T	CC2D2A	NM_001080522.2(CC2D2A):c.4019_4020AC[1]:p.Thr1341fs	coding	Pathogenic
4	15587832	T	TG	C15587835G	CC2D2A	NM_001080522.2(CC2D2A):c.4084dup:p.Ala1362fs	coding	Pathogenic
4	15587928	AG	A	G15587930T	CC2D2A	NM_001080522.2(CC2D2A):c.4179+1del	coding	Pathogenic
4	15589658	CTGTT	C	G15589660A	CC2D2A	NM_001080522.2(CC2D2A):c.4295_4298del:p.Gly1431_Cys1432insTer	coding	Pathogenic
4	15597431	TCAGA	T	G15597434A	CC2D2A	NM_001080522.2(CC2D2A):c.4465_4468del:p.Asp1489fs	coding	Pathogenic/Likely_pathogenic
4	15599626	CCT	C	C15599629G	CC2D2A	NM_001080522.2(CC2D2A):c.4595_4596CT[1]:p.Leu1533fs	coding	Pathogenic
4	15601148	C	CTT	A15601149T	CC2D2A	NM_001080522.2(CC2D2A):c.4675-89_4675-88insTT	noncoding	Benign
4	15601149	AC	A	C15601150T	CC2D2A	NM_001080522.2(CC2D2A):c.4675-87del	noncoding	Benign
4	15980496	T	TA	T15980502A	PROM1	NM_006017.3(PROM1):c.2414dup:p.Leu805fs	coding	Pathogenic
4	15980540	A	AG	A15980543G	PROM1	NM_006017.3(PROM1):c.2374-5dup	noncoding	Benign/Likely_benign
4	15984263	CAAGGGGTCGAT	C	G15984266T	PROM1	NM_006017.3(PROM1):c.2362_2372del:p.Ile788fs	coding	Pathogenic
4	15984365	TGGAAACACAG	T	A15984372T	PROM1	NM_006017.3(PROM1):c.2281-20_2281-11del	noncoding	Pathogenic
4	15987660	TA	T	A15987661C	PROM1	NM_006017.3(PROM1):c.2130+2del	noncoding	Pathogenic
4	15992280	CTA	C	A15992282T	PROM1	NM_006017.3(PROM1):c.1877_1878del:p.Ile626fs	coding	Pathogenic
4	15992317	TC	T	C15992319T	PROM1	NM_006017.3(PROM1):c.1841del:p.Gly614fs	coding	Pathogenic
4	15994044	G	GTT	A15994046T	PROM1	NM_006017.3(PROM1):c.1709_1710insAA:p.Tyr570Ter	coding	Pathogenic
4	15994056	A	AT	G15994065T	PROM1	NM_006017.3(PROM1):c.1697dup:p.Asn566fs	coding	Pathogenic
4	15998437	CAG	C	G15998443T	PROM1	NM_006017.3(PROM1):c.1624_1625CT[2]:p.Ser543fs	coding	Pathogenic
4	16000573	CA	C	A16000575T	PROM1	NM_006017.3(PROM1):c.1500del:p.Ile500fs	coding	Pathogenic
4	16006517	CAG	C	A16006522G	PROM1	NM_006017.3(PROM1):c.1454+15CT[2]	noncoding	Benign
4	16006637	T	TA	T16006644A	PROM1	NM_006017.3(PROM1):c.1354dup:p.Tyr452fs	coding	Pathogenic/Likely_pathogenic
4	16008973	G	GT	A16008975T	PROM1	NM_006017.3(PROM1):c.1276dup:p.Thr426fs	coding	Pathogenic
4	16009015	TA	T	A16009018C	PROM1	NM_006017.3(PROM1):c.1234del:p.Tyr412fs	coding	Pathogenic
4	16009071	GAT	G	A16009074C	PROM1	NM_006017.3(PROM1):c.1175_1176AT[1]:p.Ile393fs	coding	Pathogenic
4	16009098	CCT	C	C16009099T	PROM1	NM_006017.3(PROM1):c.1150_1151del:p.Arg384fs	coding	Pathogenic
4	16018338	GTTGCTA	CTCTAAGCCAG	G16018338C	PROM1	NM_006017.3(PROM1):c.981_987delinsCTGGCTTAGAG:p.Ser328fs	coding	Pathogenic
4	16018455	AC	A	C16018456T	PROM1	NM_006017.3(PROM1):c.869del:p.Ser290fs	coding	Pathogenic
4	16025199	GT	G	T16025202C	PROM1	NM_006017.3(PROM1):c.622del:p.Thr208fs	coding	Pathogenic/Likely_pathogenic
4	16038959	A	AT	G16038964T	PROM1	NM_006017.3(PROM1):c.262dup:p.Ile88fs	coding	Pathogenic
4	16075767	TG	T	G16075770A	PROM1	NM_006017.3(PROM1):c.139del:p.His47fs	coding	Pathogenic
4	17486884	GC	G	C17486887T	QDPR	NM_000320.3(QDPR):c.*246del	noncoding	Benign
4	17501733	AG	A	G17501736C	QDPR	NM_000320.3(QDPR):c.421del:p.Leu141fs	coding	Pathogenic
4	17509294	AG	A	G17509295T	QDPR	NM_000320.3(QDPR):c.174del:p.Ser59fs	coding	Pathogenic
4	25145129	G	GC	T25145135C	SEPSECS	NM_016955.4(SEPSECS):c.805-1dup	coding	Pathogenic/Likely_pathogenic
4	25155086	C	CT	G25155088T	SEPSECS	NM_016955.4(SEPSECS):c.612dup:p.Val205fs	coding	Pathogenic
4	25156134	C	CA	G25156136A	SEPSECS	NM_016955.4(SEPSECS):c.449dup:p.Cys151fs	coding	Pathogenic
4	25156140	T	TA	G25156142A	SEPSECS	NM_016955.4(SEPSECS):c.443dup:p.Thr149fs	coding	Pathogenic
4	25159110	T	TA	C25159126A	SEPSECS	NM_016955.4(SEPSECS):c.115-18dup	noncoding	Benign
4	25160262	C	CTT	A25160263T	SEPSECS	NM_016955.4(SEPSECS):c.107_108insAA:p.Glu37fs	coding	Pathogenic
4	25662803	AACCTACCCACTCT	A	A25662804T	SLC34A2	NM_006424.3(SLC34A2):c.212_224del:p.Asn71fs	coding	Pathogenic
4	38827743	CAT	C	A38827744G	TLR6	NM_006068.4(TLR6):c.1729_1730del:p.Met577fs	coding	Benign
4	39205183	G	GT	A39205192T	WDR19	NM_025132.4(WDR19):c.641dup:p.Leu214fs	coding	Pathogenic
4	39215957	AG	A	G39215959A	WDR19	NM_025132.4(WDR19):c.1080del:p.Ile361fs	coding	Pathogenic
4	39224866	AT	A	T39224881A	WDR19	NM_025132.4(WDR19):c.1480-3del	noncoding	Benign
4	39255913	T	TA	T39255915A	WDR19	NM_025132.4(WDR19):c.3068dup:p.Tyr1023Ter	coding	Pathogenic
4	39275003	A	AG	T39275005G	WDR19	NM_025132.4(WDR19):c.3716+46dup	noncoding	Benign
4	39278155	TGGAC	T	A39278158T	WDR19	NM_025132.4(WDR19):c.3868_3871del:p.Thr1290fs	coding	Pathogenic
4	39460803	A	AT	G39460809T	LIAS	NM_006859.4(LIAS):c.64dup:p.Cys22fs	coding	Pathogenic
4	39460954	AG	A	G39460956A	LIAS	NM_006859.4(LIAS):c.212del:p.Gly71fs	coding	Pathogenic
4	39460958	GA	G	A39460961G	LIAS	NM_006859.4(LIAS):c.217del:p.Arg73fs	coding	Pathogenic
4	39462238	G	GA	T39462244A	LIAS	NM_006859.4(LIAS):c.266dup:p.Asn89fs	coding	Pathogenic
4	39463574	GA	G	A39463575G	LIAS	NM_006859.4(LIAS):c.363del:p.Glu122fs	coding	Pathogenic
4	39465090	T	TA	G39465093A	LIAS	NM_006859.4(LIAS):c.440dup:p.Thr148fs	coding	Pathogenic
4	39465127	GAG	AAA	G39465127A	LIAS	NM_006859.4(LIAS):c.475_477delinsAAA:p.Glu159Lys	coding	Pathogenic
4	39467573	GC	TA	G39467573T	LIAS	NM_006859.4(LIAS):c.664_665delinsTA:p.Ala222Ter	coding	Pathogenic
4	39470936	C	CCAAA	G39470939A	LIAS	NM_006859.4(LIAS):c.884-298_884-297insAACA	noncoding	Benign
4	39514186	TAAAAAGA	T	A39514197G	UGDH	NM_003359.4(UGDH):c.163-9_163-3del	noncoding	Benign
4	41745132	T	TA	C41745134A	PHOX2B	NM_003924.3(PHOX2B):c.*674dup	noncoding	Benign
4	41745885	A	AC	A41745891C	PHOX2B	NM_003924.4(PHOX2B):c.866dup:p.Pro290fs	coding	Pathogenic
4	41745972	A	AGCTGCCGCCGCTGCC	C41745999T	PHOX2B	NM_003924.3(PHOX2B):c.765_779dup:p.Ala256_Ala260dup	coding	Pathogenic
4	41745972	AGCTGCCGCCGCTGCC	A	T41745984C	PHOX2B	NM_003924.3(PHOX2B):c.765_779del:p.Ala256_Ala260del	coding	Benign/Likely_benign
4	41745975	TGCCGCCGCTGCCGCTGCCGCCGCCGCCGCTGCCGCGGCC	T	C41745987T	PHOX2B	NM_003924.3(PHOX2B):c.738_776del:p.Ala248_Ala260del	coding	Benign/Likely_benign
4	41745975	TGCCGCCGCTGCCGCTGCCGCC	T	T41745990G	PHOX2B	NM_003924.3(PHOX2B):c.756_776del:p.Ala254_Ala260del	coding	Benign/Likely_benign
4	41745975	T	TGCCGCCGCTGCCGCTGCCGCC	G41746011T	PHOX2B	NM_003924.3(PHOX2B):c.756_776dup:p.Ala254_Ala260dup	coding	Pathogenic
4	41745975	T	TGCCGCCGCTGCCGCTGCCGCCGCCGCCGCTGCCGCGGCC	T41746026C	PHOX2B	NM_003924.4(PHOX2B):c.738_776dup:p.Ala248_Ala260dup	coding	Pathogenic
4	41745984	T	TGCCGCTGCCGCCGCC	G41746011C	PHOX2B	NM_003924.3(PHOX2B):c.753_767dup:p.Ala256_Ala260dup	coding	Pathogenic
4	41745990	TGCCGCCGCCGCCGCTGCCGCG	T	C41746002T	PHOX2B	NM_003924.3(PHOX2B):c.741_761del:p.Ala254_Ala260del	coding	Benign
4	41745992	CCGCCGCCGCCGCTGCCGCGGCCGCCGCCGCTGCTGCTG	C	G41746000C	PHOX2B	NM_003924.4(PHOX2B):c.722_759del:p.Ala241fs	coding	Pathogenic
4	41745993	CGCCGCCGCCGCTGCCGCG	C	C41746008T	PHOX2B	NM_003924.3(PHOX2B):c.741_758del:p.Ala255_Ala260del	coding	Benign/Likely_benign
4	41745996	C	CGCCGCCGCTGCCGCG	C41746020T	PHOX2B	NM_003924.4(PHOX2B):c.741_755dup:p.Ala256_Ala260dup	coding	Pathogenic
4	41745996	CGCCGCCGCTGCCGCG	C	T41746005C	PHOX2B	NM_003924.4(PHOX2B):c.741_755del:p.Ala256_Ala260del	coding	Benign/Likely_benign
4	41746002	C	CGCTGCCGCGGCCGCCGCCGCT	T41746029C	PHOX2B	NM_003924.3(PHOX2B):c.724_744dup	coding	Pathogenic
4	41746133	T	TG	T41746139G	PHOX2B	NM_003924.3(PHOX2B):c.618dup:p.Ser207fs	coding	Pathogenic
4	41748505	AGGAACTGAAGT	A	G41748506C	PHOX2B;PHOX2B-AS1	NM_003924.4(PHOX2B):c.95_105del:p.Asp32fs	coding	Pathogenic
4	42065323	TAGC	T	C42065326G	SLC30A9	NM_006345.4(SLC30A9):c.1049_1051del:p.Ala350del	coding	Pathogenic
4	42963095	T	TTCCC	G42963105C	GRXCR1	NM_001080476.2(GRXCR1):c.590_593CCCT[3]:p.Val200fs	coding	Pathogenic
4	47744585	T	TA	G47744599A	CORIN	NM_006587.4(CORIN):c.618-15dup	noncoding	Benign
4	47937154	G	GT	G47937162T	CNGA1	NM_001379270.1(CNGA1):c.1327dup:p.Thr443fs	coding	Pathogenic/Likely_pathogenic
4	47937267	TTCTGC	T	C47937272G	CNGA1	NM_000087.4(CNGA1):c.1222_1226del:p.Ala408fs	coding	Pathogenic
4	47942055	TG	T	G47942056T	CNGA1	NM_001379270.1(CNGA1):c.530del:p.Thr177fs	coding	Pathogenic
4	47943394	CT	C	T47943401C	CNGA1	NM_001142564.1(CNGA1):c.524del:p.Lys175fs	coding	Pathogenic
4	47943410	T	TC	T47943414C	CNGA1	NM_001142564.2(CNGA1):c.288-1dup	coding	Pathogenic
4	47949866	AG	A	G47949867T	CNGA1	NM_000087.4(CNGA1):c.265del:p.Leu89fs	coding	Pathogenic
4	47951397	AC	A	C47951401T	CNGA1	NM_000087.4(CNGA1):c.191del:p.Gly64fs	coding	Pathogenic
4	51995198	GC	G	C51995203T	LRRC66	NM_001024611.3(LRRC66):c.1823del:p.Gly608fs	coding	Benign
4	52027955	AAAG	A	G52027958T	SGCB	NM_000232.4(SGCB):c.753+10_753+12del	noncoding	Benign
4	52028063	CTT	C	T52028066A	SGCB	NM_000232.4(SGCB):c.656_657del:p.Lys219fs	coding	Pathogenic
4	52028752	ACATT	A	T52028755A	SGCB	NM_000232.4(SGCB):c.595_598del:p.Asn199fs	coding	Pathogenic/Likely_pathogenic
4	52028778	CA	C	A52028781T	SGCB	NM_000232.4(SGCB):c.572del:p.Leu191fs	coding	Pathogenic
4	52028883	TTC	T	C52028885A	SGCB	NM_000232.4(SGCB):c.466_467del:p.Glu156fs	coding	Pathogenic
4	52029739	TAA	T	A52029741G	SGCB	NM_000232.5(SGCB):c.366_367del:p.Leu122_Tyr123insTer	coding	Pathogenic
4	52029852	AAC	A	C52029854A	SGCB	NM_000232.4(SGCB):c.253_254del:p.Val85fs	coding	Pathogenic
4	52033587	TCTCTC	T	C52033588A	SGCB	NM_000232.4(SGCB):c.82_86del:p.Glu28fs	coding	Pathogenic
4	52038226	CCTGTT	C	T52038230C	SGCB	NM_000232.4(SGCB):c.29_33del:p.Glu10fs	coding	Pathogenic/Likely_pathogenic
4	52038227	C	CT	G52038229T	SGCB	NM_000232.4(SGCB):c.32dup:p.Gln12fs	coding	Pathogenic
4	52038251	T	TGCCGCCATCTTCCCGCGCCC	G52038278A	SGCB	NM_000232.5(SGCB):c.-12_8dup:p.Ala4fs	coding	Pathogenic
4	52038257	CAT	C	A52038258C	SGCB	NM_000232.4(SGCB):c.1_2del:p.Met1fs	coding	Pathogenic/Likely_pathogenic
4	52038278	GC	G	C52038280G	SGCB	NM_000232.4(SGCB):c.-20del	noncoding	Benign
4	54229321	CAG	C	A54229324G	PDGFRA	NM_006206.6(PDGFRA):c.-106_-105AG[1]	noncoding	Benign
4	54274863	G	GGAGGGA	T54274869A	PDGFRA	NM_006206.6(PDGFRA):c.1681_1682insAGAGGG:p.Val561_Ile562insGluArg	coding	Pathogenic
4	54274864	GAGGGTCATTGAATCA	G	G54274866T	PDGFRA	NM_006206.6(PDGFRA):c.1679_1693del:p.Arg560_Ser564del	coding	Pathogenic
4	54274882	CAGCCCAGATGGACATGAA	C	A54274883T	PDGFRA	NM_006206.6(PDGFRA):c.1696_1713del:p.Ser566_Glu571del	coding	Pathogenic
4	54285924	AGACATCATGCAT	A	C54285927T	PDGFRA	NM_006206.6(PDGFRA):c.2526_2537del:p.Ile843_Asp846del	coding	Pathogenic/Likely_pathogenic
4	54285933	GCATGATTCGAAC	G	C54285934T	PDGFRA	NM_006206.6(PDGFRA):c.2533_2544del:p.His845_Asn848del	coding	Pathogenic
4	54296367	GTT	G	T54296382C	PDGFRA	NM_006206.6(PDGFRA):c.*1110_*1111del	noncoding	Benign
4	54695552	A	AT	C54695553T	KIT	NM_000222.2(KIT):c.108_109insT:p.Pro37fs	coding	Pathogenic
4	54695695	CG	C	G54695697A	KIT	NM_000222.2(KIT):c.253del:p.Glu85fs	coding	Pathogenic
4	54698333	CA	C	A54698335C	KIT	NM_000222.2(KIT):c.389del:p.Asn130fs	coding	Pathogenic
4	54699759	ACAGT	A	T54699763G	KIT	NM_000222.2(KIT):c.753_756del:p.Ser251fs	coding	Pathogenic
4	54709474	C	CT	A54709477T	KIT	NM_000222.3(KIT):c.1168dup:p.Tyr390fs	coding	Pathogenic
4	54727413	CAGAAACCCATGTATGAAGTACAGTGGA	C	A54727416G	KIT	NM_000222.2(KIT):c.1648_1674del	noncoding	Pathogenic
4	54727417	AACCCATGTATGAAGT	A	C54727420A	KIT	NM_000222.2(KIT):c.1652_1666del:p.Pro551_Val555del	coding	Pathogenic
4	54727442	GGTT	G	T54727447A	KIT	NM_001093772.1(KIT):c.1664_1666TTG[1]:p.Val556del	coding	Pathogenic/Likely_pathogenic
4	54727442	GGTTGTT	G	T54727444A	KIT	NM_000222.2(KIT):c.1676_1681del:p.Val559_Val560del	coding	Pathogenic
4	54727448	T	TG	A54727450G	KIT	NM_000222.2(KIT):c.1681dup:p.Glu561fs	coding	Pathogenic
4	54727495	TTCCTTATGA	T	C54727498A	KIT	NM_000222.2(KIT):c.1730_1738del:p.Pro577_Asp579del	coding	Pathogenic
4	54727500	TATG	T	G54727503C	KIT	NM_000222.2(KIT):c.1735_1737del:p.Asp579del	coding	Pathogenic
4	54728054	CAA	C	A54728056G	KIT	NM_000222.2(KIT):c.1925_1926del:p.Lys642fs	coding	Pathogenic
4	54731337	TAC	T	A54731338T	KIT	NM_000222.2(KIT):c.2152_2153del:p.Ser717_Thr718insTer	coding	Pathogenic
4	54733154	GA	AT	G54733154A	KIT	NM_000222.2(KIT):c.2446_2447delinsAT:p.Asp816Ile	coding	Pathogenic
4	54733161	AG	A	G54733162A	KIT	NM_000222.2(KIT):c.2454del:p.Asn819fs	coding	Pathogenic
4	54736602	CTCTT	C	C54736604A	KIT	NM_000222.2(KIT):c.2591_2594del:p.Phe863_Ser864insTer	coding	Pathogenic
4	55346401	TG	T	G55346402A	SRD5A3	NM_024592.5(SRD5A3):c.66del:p.Thr23fs	coding	Pathogenic
4	55346538	G	GC	T55346541C	SRD5A3	NM_024592.5(SRD5A3):c.204dup:p.Phe69fs	coding	Pathogenic
4	55359410	CAA	TGAGTAAGGC	C55359410T	SRD5A3	NM_024592.5(SRD5A3):c.286_288delinsTGAGTAAGGC:p.Gln96Ter	coding	Pathogenic
4	55370431	TCA	T	C55370472A	SRD5A3	NM_024592.5(SRD5A3):c.*341_*342CA[20]	noncoding	Benign
4	55425453	CAA	C	A55425454G	TMEM165	NM_018475.5(TMEM165):c.*2_*3del	noncoding	Benign
4	55964367	A	AC	A55964370C	CEP135	NM_025009.5(CEP135):c.795dup:p.Asn266fs	coding	Pathogenic
4	55965784	TC	T	C55965785A	CEP135	NM_025009.5(CEP135):c.970del:p.Gln324fs	coding	Pathogenic
4	56017774	CTT	C	T56017775A	CEP135	NM_025009.5(CEP135):c.2930_2931del:p.Leu977fs	coding	Pathogenic
4	56484837	GCA	G	C56484842A	SRP72	NM_006947.4(SRP72):c.1064_1065del:p.Thr355fs	coding	Pathogenic
4	56491573	T	TA	T56491575A	SRP72	NM_006947.4(SRP72):c.1640+6dup	noncoding	Benign/Likely_benign
4	56502468	TATATATATATATATGTATATATATATAC	T	G56502483A	SRP72	NM_006947.4(SRP72):c.*622_*649del	noncoding	Benign
4	56910902	A	AG	A56910904G	REST	NM_005612.5(REST):c.265dup:p.Glu89fs	coding	Pathogenic
4	56911076	A	AGC	G56911080C	REST	NM_005612.5(REST):c.440_441dup:p.Glu148fs	coding	Pathogenic
4	56911468	CAT	C	A56911469G	REST	NM_005612.5(REST):c.831_832del:p.Cys278fs	coding	Pathogenic
4	56931051	GGAGCTGTCTCCTCCCATGGAGGTGGTCCAGAAGGAGCCTGTTCAGATA	G	G56931087A	REST	NM_005612.5(REST):c.2229_2276del:p.Gln746_Val761del	coding	Benign
4	64309935	G	GA	T64309945A	TECRL	NM_001010874.5(TECRL):c.552-13dup	noncoding	Benign
4	67696711	G	GA	C67696721A	UBA6	NM_018227.6(UBA6):c.72-13dup	noncoding	Benign
4	69489575	GA	G	A69489583G	UGT2B4	NM_021139.3(UGT2B4):c.871-6del	noncoding	Benign
4	70389761	T	TC	A70389764C	SMR3B	NM_006685.4(SMR3B):c.155dup:p.Pro53fs	coding	Benign
4	70481421	CATCTTCCTCAGCTCCACCAGAGACCACAGCTGCCCCACCCACACCTTCTGCAACTACACCAGCTCCACT	C	C70481454T	MUC7	NM_152291.3(MUC7):c.710_778del:p.Ala237_Ala259del	coding	Benign
4	70599784	AGCCTATAACTGCTTTTAGCGCTTAAGAAATATTTTTAAATTTAAAACTATTTGCATATTTATTTAAAATAGGAAGATACAGCCTCCAAAATATGAGACCTATATTAAAGATATCAGTAAACAATCCTCGAAAATCAAAGCAGGCTACATCCTGGACAATTTTCATTTGAATCAAGATTTCCTAAATAATTCCTCAAAGGCTGATTTCAAATGATGACAATAATCCTGGTTAAAATACCATAGCCAGGTGCGATGGCTGACGCCTGTAATCCCAGCATTTTGGGAGGCCAAGGTGGGTGGATCACTTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCCAGGCATGGTGGCAGGCACCTGTAATCTCAGCTACTCTCAGGAGGCTGAGGCAGGACAATAGCTTGAACCTGGGAGGCAGAGGCTGCAGTGAGCCGAGATTGTGCCACTGCACTCCAGCCTGGGCAATAGAGTGAGACTCTGTCTCAAAAAAAATTAAGAAATTTAAAAAAAAAAAACATCATGAACCCTACAGAAGTCAATAAATATATCAATCTGTTAACCATTATTGATTAGGTGCCTAATAAATACATAAACCAAATTGTGGTTTGGTAGTAAAAGCGAAGACATTTAAGAATGGCTCCAAGGATTGTGAAATTTCATCTTATCTGATTCAGATAGGACAAGACAACATATTTCAAAGTGCTGAATTGTGACATGTGAGTAATGAATACTGCGTGAGCTCAGAGAGGGGTGATGGCTGGAGAGGCAAAGCAGAGCCCCAAATTGTTGCGAGACTTCCTTGCTGGTCTGAGGAGTTTACAATCAATCTACAAACAATAGGGAGCCATTCACCAAAAGTAATTTCTACAAGAAGTAACAAAACATGGTGATTTTAACGGGGAATTTTTTCGTTTAATATATGGACTCAGAACCAAGATTTAACAGGGAATTTTAGTTCCAGGCGGTCTTCCACAGCAGGAGCATTACCACGAGGTCACATTCAGTAGAACAATAAATTATGTTAATGGTGACTGTTTCTTAACTTAATTGTTTCCAAAGTGGACTCCATGATGCAAGAATTTGATTGGCATTTTAATTAATTACCCTTTATCCTTTCATTAACTCGAAAAATATATTAGGCACCCACCATGGGCCAGGCACTTGTTAGGAGCTATGTTATGTACACGGGCTATAAAGAAAAACAAAACATATCATTCTCTCTCCGTTGACTGGGGGACAAAGATTTATAACAAATAATTATCATCCAGTGAGAAAGTGGTAAAATAAAGATACAGATACATACAGACAGCTATGGGAACTTAGAGAAGGACATGACTCATCCTACCAGGAGGTTCATGTAGCTTCACCTTTACGAGCAATGGTGGTCCCAAAGGAGGTAGGGGAGGCACACACAAGACCTCCCCAAACAACATTAACACTAACTGGTGCTTGCTATGTAAACTCAACTTCAAGACAAGTCTCCTAGCCTCCCTTCCAGATAGAAAGCGCCCCAAGCCCCTTTGTTTAGAAATTCTAGGCACCGTTGTTTAATGAGCCATCCCTTCCTAACACTCTTTTCAAATTTCTCTGCAGTATGAATATTCTTTGCCTGTGCATCCCCCACCTCTCCCATCACAGCCATCCTTGAAGCCTCAACAGCCAGGACTGAAACCTTTTCTCCAGTCTGCTGCTGCAACCACCAACCAGGCCACAGCACTGAAAGAAGCACTTCAGCCTCCAATTCACCTGGGACATCTGCCCTTGCAGGAAGGAGAACTGCCTCTGGTTCAGCAGCAGGTGGCACCATCAGATAAGCCACCAAAGCCTGAGGTACTTCCTTTCTCTTGAAGTCAGATCAGAATCACCAGCTAACCTAATAGAAGAAAACGAATTTGCAGGGCACTTTTAAATAATCGTAGCCTTCAGGCATAATACGTGATATAAATATATTCTTAATCAGTCTTCCACATCTGAGATTTATTTTTTGAGTAAAACGTAAATATCCATTCCTATCTTTTGCCATCAGAGACAGGGCATGGATTCTAAAAGATACTGTGCCTATAAAACTGGGTTTCTTAGTTGCGAAAGATGAAAACTCCCATAGGAAATAGAATAAAACCCCAGAGAAGTCCAGGTTTCCTATCACTGGTCTTTTTTGGTATTGGAAAAACTGAAAAAAGTGATTGATCCCTCAGCATAACAAGTAGGATTTTGCATTATTATCTCTCTGACAAAGAGGTGACCACTATGCAAAAAGTATCTTGTAATAATGTAGAGAAAAGTGTAATGGATTAAAAAAAAAATGAAG	A	C70599786T	AMBN	NM_016519.6(AMBN):c.294+140_531+479del	noncoding	Pathogenic
4	70637837	A	AG	T70637845G	ENAM	NM_031889.3(ENAM):c.588+1dup	coding	Pathogenic
4	70642685	T	TAG	G70642686A	ENAM	NM_031889.3(ENAM):c.1259_1260insAG:p.Pro422fs	coding	Pathogenic
4	70644188	AT	A	T70644189A	ENAM	NM_031889.3(ENAM):c.2763del:p.Asp921fs	coding	Pathogenic
4	70825438	GACAA	G	C70825444G	GRSF1	NM_002092.4(GRSF1):c.1258-11_1258-8del	noncoding	Benign
4	71440633	GA	G	A71440639T	SLC4A4	NM_001098484.3(SLC4A4):c.831del:p.Lys277fs	coding	Pathogenic
4	71486870	TAA	T	A71486874T	SLC4A4	NM_001098484.3(SLC4A4):c.1904-74_1904-73del	noncoding	Benign
4	71486874	A	AGGTT	A71486875G	SLC4A4	NM_001098484.3(SLC4A4):c.1904-74_1904-73insGGTT	noncoding	Benign
4	71567925	TG	T	G71567926T	SLC4A4	NM_001098484.3(SLC4A4):c.*175del	noncoding	Benign
4	73406718	CAT	C	A73406719G	ALB	NM_000477.7(ALB):c.228_229del:p.Val78fs	coding	Pathogenic
4	73413444	G	GA	T73413449A	ALB	NM_000477.5(ALB):c.872dupA:p.Asn291Lysfs	coding	Pathogenic
4	73415073	C	CT	G73415075T	ALB	NM_000477.7(ALB):c.1098dup:p.Val367fs	coding	Pathogenic
4	73420277	TC	T	C73420278A	ALB	NM_000477.7(ALB):c.1810del:p.Gln604fs	coding	Benign
4	73447498	ACT	A	C73447501G	AFP	NM_001134.3(AFP):c.881_882CT[1]:p.Leu295fs	coding	Pathogenic
4	73837092	G	GT	G73837094T	CXCL6	NM_002993.4(CXCL6):c.239dup:p.Val81fs	coding	Benign
4	75556133	GGTAAC	ATGCTGGTTACTGGTA	G75556133A	ODAPH	NM_001206981.2(ODAPH):c.51_56delinsATGCTGGTTACTGGTA:p.Val18fs	coding	Pathogenic
4	76163233	TGGATC	GGTGCATGCAT	T76163233G	SCARB2	NM_005506.4(SCARB2):c.1385_1390delinsATGCATGCACC:p.Gly462fs	coding	Pathogenic
4	76163285	AC	A	C76163288A	SCARB2	NM_005506.4(SCARB2):c.1337del:p.Gly446fs	coding	Pathogenic
4	76163364	TC	T	C76163365T	SCARB2	NM_005506.4(SCARB2):c.1258del:p.Glu420fs	coding	Pathogenic
4	76169963	G	GA	G76169967A	SCARB2	NM_005506.4(SCARB2):c.1016dup:p.His341fs	coding	Pathogenic
4	76169977	T	TG	T76169981G	SCARB2	NM_005506.4(SCARB2):c.1002dup:p.Ile335fs	coding	Pathogenic
4	76174181	CA	C	A76174182G	SCARB2	NM_005506.4(SCARB2):c.956del:p.Leu319fs	coding	Pathogenic
4	76176470	TTAAGG	T	G76176474C	SCARB2	NM_005506.4(SCARB2):c.666_670del:p.Tyr222_Asn224delinsTer	coding	Pathogenic
4	76179693	A	ACT	A76179698C	SCARB2	NM_005506.4(SCARB2):c.432_433AG[3]:p.Trp146fs	coding	Pathogenic
4	76181009	T	TG	T76181012G	SCARB2	NM_005506.4(SCARB2):c.367dup:p.Gln123fs	coding	Pathogenic
4	76181080	AT	A	T76181083G	SCARB2	NM_005506.4(SCARB2):c.296del:p.Asn99fs	coding	Pathogenic
4	76195847	AT	A	T76195849C	SCARB2	NM_005506.4(SCARB2):c.134del:p.Asn45fs	coding	Pathogenic
4	76213432	CG	C	G76213433A	SCARB2	NM_005506.4(SCARB2):c.111del:p.Ile37fs	coding	Pathogenic
4	78237493	CT	C	T78237495A	FRAS1	NM_025074.7(FRAS1):c.109-15del	noncoding	Benign/Likely_benign
4	78255341	T	TCACA	G78255346C	FRAS1	NM_025074.7(FRAS1):c.570_571CA[4]:p.Ala192fs	coding	Pathogenic
4	78317476	AG	A	G78317479T	FRAS1	NM_025074.7(FRAS1):c.1931del:p.Gly644fs	coding	Pathogenic
4	78369904	AG	A	G78369906T	FRAS1	NM_025074.7(FRAS1):c.2791del:p.Val931fs	coding	Pathogenic
4	78374264	C	CTG	C78374267T	FRAS1	NM_025074.7(FRAS1):c.3151+14_3151+15dup	noncoding	Benign
4	78379798	A	AT	C78379804T	FRAS1	NM_025074.7(FRAS1):c.3370dup:p.Ser1124fs	coding	Pathogenic
4	78400784	A	AG	A78400791G	FRAS1	NM_025074.7(FRAS1):c.4032dup:p.Met1345fs	coding	Pathogenic
4	78432553	TGTTGCCA	T	T78432556A	FRAS1	NM_025074.7(FRAS1):c.5169_5175del:p.Ala1724fs	coding	Pathogenic
4	78441199	A	AT	G78441207T	FRAS1	NM_025074.7(FRAS1):c.5574dup:p.Ala1859fs	coding	Pathogenic
4	78441296	AGGTACTACTTCCTGTAAAAC	T	A78441296T	FRAS1	NM_025074.7(FRAS1):c.5664_5665+19delinsT	coding	Pathogenic
4	78445571	TA	T	A78445572T	FRAS1	NM_025074.7(FRAS1):c.5716del:p.Ile1906fs	coding	Pathogenic
4	78446820	C	CA	G78446823A	FRAS1	NM_025074.7(FRAS1):c.5952dup:p.Asp1985fs	coding	Pathogenic
4	78464515	C	CGG	T78464519G	FRAS1	NM_025074.7(FRAS1):c.6963_6964dup:p.Val2322fs	coding	Pathogenic
4	78464557	CT	C	T78464559A	FRAS1	NM_025074.7(FRAS1):c.7005del:p.Lys2336fs	coding	Pathogenic
4	78515910	AC	A	C78515911A	FRAS1	NM_025074.7(FRAS1):c.10287del:p.Leu3428_Tyr3429insTer	coding	Pathogenic
4	78521645	GT	G	T78521655C	FRAS1	NM_025074.7(FRAS1):c.10648+25del	noncoding	Benign
4	78537165	CCAAA	C	A78537172C	FRAS1	NM_025074.7(FRAS1):c.11266_11269AACA[1]:p.Lys3757fs	coding	Pathogenic
4	78539493	GAA	G	A78539508G	FRAS1	NM_025074.7(FRAS1):c.11445+68_11445+69del	noncoding	Benign
4	78540981	G	GT	G78540983T	FRAS1	NM_025074.7(FRAS1):c.11897dup:p.Asn3967fs	coding	Pathogenic
4	78541639	A	AT	C78541643T	FRAS1	NM_025074.7(FRAS1):c.*518dup	noncoding	Benign
4	78543946	A	ATTTT	C78543949T	FRAS1	NM_025074.7(FRAS1):c.*2824_*2825insTTTT	noncoding	Benign
4	79978048	TG	T	G79978051T	ANTXR2	NM_058172.6(ANTXR2):c.1305del:p.Thr436fs	coding	Pathogenic
4	79984830	CA	C	A79984831G	ANTXR2	NM_058172.6(ANTXR2):c.1074del:p.Ala359fs	coding	Pathogenic
4	79984831	A	AG	C79984836G	ANTXR2	NM_058172.6(ANTXR2):c.1073dup:p.Ala359fs	coding	Pathogenic
4	79984835	GC	G	C79984836G	ANTXR2	NM_058172.6(ANTXR2):c.1069del:p.Ala357fs	coding	Pathogenic
4	80018939	A	AT	C80018944T	ANTXR2	NM_058172.6(ANTXR2):c.903dup:p.Ser302fs	coding	Pathogenic
4	80036041	GA	G	A80036053G	ANTXR2	NM_058172.6(ANTXR2):c.637-10del	noncoding	Benign
4	80072788	CTT	C	T80072789G	ANTXR2	NM_058172.6(ANTXR2):c.-230_-229del	noncoding	Benign
4	80203232	AGCCGCGGCTGCGGCGGCG	A	C80203240G	PRDM8	NM_001099403.2(PRDM8):c.1778_1795del:p.Ala593_Ala598del	coding	Benign
4	80266982	CTA	C	A80266984G	FGF5	NM_004464.3(FGF5):c.160_161del:p.Met54fs	coding	Pathogenic
4	80275012	TG	T	G80275013T	FGF5	NM_004464.3(FGF5):c.459+1del	coding	Pathogenic
4	82427311	AC	A	C82427312A	HNRNPDL	NM_031372.3(HNRNPDL):c.907-8del	noncoding	Benign
4	82429578	AGCTGCCGCGGCGGCC	A	T82429581G	HNRNPDL	NM_031372.3(HNRNPDL):c.98_112del:p.Arg33_Gln37del	coding	Benign
4	82842330	G	GTA	C82842333T	SEC31A	NM_001077207.4(SEC31A):c.2776_2777dup:p.Ala927fs	coding	Pathogenic
4	83264267	CA	C	A83264269G	COQ2	NM_015697.8(COQ2):c.1197del:p.Asn401fs	coding	Pathogenic
4	83273175	T	TATAC	T83273179C	COQ2	NM_015697.8(COQ2):c.692+320_692+321insTATG	noncoding	Benign
4	83284632	GC	G	C83284633T	COQ2	NM_015697.8(COQ2):c.282del:p.Gln94fs	coding	Pathogenic
4	83284866	C	CG	T83284869G	COQ2;LOC112997540	NM_015697.8(COQ2):c.48dup:p.Ala17fs	coding	Pathogenic
4	83462555	C	CT	A83462559T	ABRAXAS1	NM_139076.3(ABRAXAS1):c.1143dup:p.Ala382fs	coding	Pathogenic
4	84803436	CAG	C	A84803437G	WDFY3	NM_014991.6(WDFY3):c.2459_2460del:p.Pro820fs	coding	Pathogenic
4	87614701	GC	G	C87614702A	DSPP	NM_014208.3(DSPP):c.2040del:p.Ser680fs	coding	Pathogenic
4	87615164	TAGC	T	G87615169A	DSPP	NC_000004.12:g.87615166_87615168GCA[1]	coding	Benign
4	87616099	AC	A	C87616100A	DSPP	NM_014208.3(DSPP):c.3438del:p.Asp1146fs	coding	Pathogenic
4	87662137	GC	G	C87662140A	DMP1	NM_004407.4(DMP1):c.362del:p.Pro121fs	coding	Pathogenic
4	87663261	GCCTATCA	G	C87663263A	DMP1	NM_004407.4(DMP1):c.1485_1491del:p.Tyr496fs	coding	Pathogenic
4	87664065	ATT	A	T87664077G	DMP1	NM_004407.4(DMP1):c.*757_*758del	noncoding	Benign
4	88007869	CTCTGCGAGCAGCGGGGCCTGGAGATCGAGATGCAGCGCATCCGGCAGGCGGCCGCGCGGGACCCCCCGGCCGGA	GCGGG	C88007869G	PKD2	NM_000297.4(PKD2):c.136_210delinsGCGGG:p.Leu46fs	coding	Pathogenic
4	88007928	G	GGACC	C88007933G	PKD2	NM_000297.4(PKD2):c.196_199dup:p.Pro67fs	coding	Pathogenic
4	88007930	A	AC	G88007937C	PKD2	NM_000297.4(PKD2):c.203dup:p.Ala69fs	coding	Pathogenic
4	88008021	C	CGAG	T88008041A	PKD2	NM_000297.4(PKD2):c.290_292AGG[7]:p.Glu102dup	coding	Benign/Likely_benign
4	88008021	CGAG	C	A88008038T	PKD2	NM_000297.4(PKD2):c.290_292AGG[5]:p.Glu102del	coding	Benign
4	88008038	A	AAGG	G88008039A	PKD2	NM_000297.4(PKD2):c.305_306insAGG:p.Val103_Glu104insGly	coding	Benign
4	88008038	A	AGAG	G88008040A	PKD2	NM_000297.4(PKD2):c.306_307insAGG:p.Val103_Glu104insArg	coding	Pathogenic
4	88008090	CCCGGGCA	TAGGACG	C88008090T	PKD2	NM_000297.4(PKD2):c.357_364delinsTAGGACG:p.Pro120fs	coding	Pathogenic
4	88008137	GC	G	C88008138G	PKD2	NM_000297.4(PKD2):c.405del:p.Ala136fs	coding	Pathogenic
4	88008173	CG	C	G88008176C	PKD2	NM_000297.4(PKD2):c.443del:p.Gly148fs	coding	Pathogenic
4	88008205	GA	G	A88008206G	PKD2	NM_000297.4(PKD2):c.473del:p.Glu158fs	coding	Pathogenic
4	88008209	ACCAGGGCCCGCCGTGCCCCAGC	A	G88008214T	PKD2	NM_000297.4(PKD2):c.481_502del:p.Gly161fs	coding	Pathogenic
4	88008243	CG	C	G88008247A	PKD2	NM_000297.4(PKD2):c.514del:p.Asp172fs	coding	Pathogenic
4	88008266	T	TC	T88008272C	PKD2	NM_000297.4(PKD2):c.538dup:p.Leu180fs	coding	Pathogenic
4	88008303	GGA	G	A88008307G	PKD2	NM_000297.4(PKD2):c.572_573AG[1]:p.Arg192fs	coding	Pathogenic
4	88019513	TAA	T	A88019516G	PKD2	NM_000297.4(PKD2):c.654_655del:p.Ser219fs	coding	Pathogenic
4	88019531	AC	A	C88019532T	PKD2	NM_000297.4(PKD2):c.670del:p.Leu224fs	coding	Pathogenic
4	88019554	T	TC	A88019556C	PKD2	NM_000297.4(PKD2):c.693dup:p.Ile232fs	coding	Pathogenic
4	88036324	ACT	A	C88036327G	PKD2	NM_000297.4(PKD2):c.815_816CT[1]:p.Leu273fs	coding	Pathogenic
4	88038391	TG	T	G88038393A	PKD2	NM_000297.4(PKD2):c.986del:p.Gly329fs	coding	Pathogenic
4	88038406	C	AGA	C88038406A	PKD2	NM_000297.4(PKD2):c.999delinsAGA:p.Pro334fs	coding	Pathogenic
4	88038445	TG	T	G88038446T	PKD2	NM_000297.4(PKD2):c.1039del:p.Val347fs	coding	Pathogenic
4	88038453	C	CT	G88038455T	PKD2	NM_000297.4(PKD2):c.1047dup:p.Val350fs	coding	Pathogenic
4	88038493	TG	T	G88038495A	PKD2	NM_000297.4(PKD2):c.1088del:p.Gly363fs	coding	Pathogenic
4	88038501	CGTAA	C	A88038504G	PKD2	NM_000297.4(PKD2):c.1094+3_1094+6del	coding	Pathogenic/Likely_pathogenic
4	88043313	A	ATCTGGATTTGTCAAGAACAAGAGAGGAAACAGCTGCACAAGTTGCTAGCC	A88043366T	PKD2	NM_000297.4(PKD2):c.1178_1227dup:p.Lys410fs	coding	Pathogenic
4	88046639	CA	C	A88046640G	PKD2	NM_000297.4(PKD2):c.1320-2del	noncoding	Pathogenic
4	88046645	AT	A	T88046647G	PKD2	NM_000297.4(PKD2):c.1325del:p.Leu442fs	coding	Pathogenic
4	88051992	TG	T	G88051993T	PKD2	NM_000297.4(PKD2):c.1551del:p.Ser518fs	coding	Pathogenic
4	88052017	CAT	C	T88052021C	PKD2	NM_000297.4(PKD2):c.1577_1578TA[1]:p.Tyr527fs	coding	Pathogenic
4	88052109	TACAGTTCA	T	G88052113A	PKD2	NM_000297.4(PKD2):c.1671_1678del:p.Phe558fs	coding	Pathogenic
4	88056106	TAACAGGACC	AACAGG	T88056106A	PKD2	NM_000297.4(PKD2):c.1737_1746delinsAACAGG:p.Phe579Leufs	coding	Pathogenic
4	88056223	CT	C	T88056226G	PKD2	NM_000297.4(PKD2):c.1857del:p.Phe619fs	coding	Pathogenic
4	88058018	AC	T	A88058018T	PKD2	NM_000297.4(PKD2):c.1934_1935delinsT:p.Asn645fs	coding	Pathogenic
4	88058101	TTGGTA	T	G88058104T	PKD2	NM_000297.4(PKD2):c.2019+1_2019+5del	coding	Pathogenic
4	88061903	CAG	C	G88061905A	PKD2	NM_000297.4(PKD2):c.2020-1_2020del	noncoding	Pathogenic/Likely_pathogenic
4	88061936	T	TA	C88061938A	PKD2	NM_000297.4(PKD2):c.2051dup:p.Tyr684Ter	coding	Pathogenic
4	88061983	ACT	A	T88061987A	PKD2	NM_000297.4(PKD2):c.2099_2100TC[1]:p.Ser701fs	coding	Pathogenic
4	88062009	G	GA	C88062015A	PKD2	NM_000297.4(PKD2):c.2118+10dup	noncoding	Benign
4	88065406	GA	G	A88065414T	PKD2	NM_000297.4(PKD2):c.2159del:p.Asn720fs	coding	Pathogenic
4	88065406	G	GA	T88065415A	PKD2	NM_000297.4(PKD2):c.2159dup:p.Asn720fs	coding	Pathogenic
4	88065803	AGTAC	A	T88065805A	PKD2	NM_000297.4(PKD2):c.2284_2287del:p.Tyr762fs	coding	Pathogenic
4	88067914	ATCACAGT	A	A88067917T	PKD2	NM_000297.4(PKD2):c.2378_2384del:p.His793fs	coding	Pathogenic
4	88068039	G	GT	C88068043T	PKD2	NM_000297.4(PKD2):c.2503dup:p.Ser835fs	coding	Pathogenic
4	88068059	AGT	A	G88068062A	PKD2	NM_000297.4(PKD2):c.2522+1_2522+2del	coding	Pathogenic
4	88074811	GC	G	C88074813T	PKD2	NM_000297.4(PKD2):c.2524del:p.Leu842fs	coding	Pathogenic
4	88074814	TG	T	G88074816T	PKD2	NM_000297.4(PKD2):c.2527del:p.Leu842_Val843insTer	coding	Pathogenic
4	88075629	TC	T	C88075631T	PKD2	NM_000297.4(PKD2):c.2844del:p.Ser949fs	coding	Pathogenic
4	88731430	T	TA	G88731433A	FAM13A	NM_014883.4(FAM13A):c.2844-4dup	noncoding	Benign
4	89725350	AAGAG	A	G89725366A	SNCA	NM_000345.4(SNCA):c.*1260_*1261CT[7]	noncoding	Benign
4	93829950	TC	T	C93829956A	ATOH1	NM_005172.2(ATOH1):c.1030del:p.His344fs	coding	Pathogenic
4	94253655	GGAAGGCATAAGCACTGGT	G	G94253656A	SMARCAD1	NM_001128430.2(SMARCAD1):c.1281+649_1281+666del	coding	Pathogenic
4	94253672	G	GT	A94253674T	SMARCAD1	NM_001128430.2(SMARCAD1):c.1281+666dup	noncoding	Pathogenic
4	95123818	GATGGACCT	G	G95123821A	BMPR1B	NM_001203.3(BMPR1B):c.361_368del:p.Gly121fs	coding	Pathogenic
4	98881149	GA	G	A98881160G	EIF4E	NM_001968.4(EIF4E):c.540-8del	noncoding	Benign
4	98881149	G	GA	G98881161A	EIF4E	NM_001968.4(EIF4E):c.540-18dup	noncoding	Benign
4	99582056	TC	T	C99582058T	MTTP	NM_000253.3(MTTP):c.215del:p.Pro72fs	coding	Pathogenic
4	99591734	AAC	A	C99591740A	MTTP	NM_000253.3(MTTP):c.704_705CA[2]:p.His236fs	coding	Pathogenic
4	99594830	GC	G	C99594832A	MTTP	NM_000253.4(MTTP):c.858del:p.Ile287fs	coding	Pathogenic
4	99600608	TCATTAGAAGC	T	A99600613T	MTTP	NM_000253.4(MTTP):c.1116_1125del:p.Leu372fs	coding	Pathogenic
4	99606794	CA	C	A99606795G	MTTP	NM_000253.4(MTTP):c.1392del:p.Glu465fs	coding	Pathogenic
4	99611186	TA	T	A99611187T	MTTP	NM_000253.4(MTTP):c.1814del:p.Tyr605fs	coding	Pathogenic
4	101032290	CCAGAA	C	C101032291A	PPP3CA	NM_000944.5(PPP3CA):c.1311_1315del:p.Ser438fs	coding	Pathogenic
4	101032294	A	AAAGT	C101032300A	PPP3CA	NM_000944.5(PPP3CA):c.1308_1311dup:p.Ser438fs	coding	Pathogenic
4	101032315	T	TG	C101032317G	PPP3CA	NM_000944.5(PPP3CA):c.1290dup:p.Met431fs	coding	Pathogenic
4	102576931	G	GA	G102576934A	NFKB1	NM_003998.4(NFKB1):c.465dup:p.Ala156fs	coding	Pathogenic
4	102576988	C	CCTGA	C102576994T	NFKB1	NM_003998.4(NFKB1):c.522_525dup:p.Leu176Ter	coding	Pathogenic
4	102579008	AC	A	C102579011G	NFKB1	NM_003998.4(NFKB1):c.702del:p.Val235fs	coding	Pathogenic
4	102580633	C	CA	G102580635A	NFKB1	NM_003998.4(NFKB1):c.830dup:p.Lys278fs	coding	Pathogenic/Likely_pathogenic
4	102582929	A	AT	C102582935T	NFKB1	NM_003998.4(NFKB1):c.904dup:p.Ser302fs	coding	Pathogenic/Likely_pathogenic
4	102584732	A	AC	A102584735C	NFKB1	NM_003998.4(NFKB1):c.980dup:p.Ala328fs	coding	Pathogenic
4	102584757	CG	C	G102584759A	NFKB1	NM_003998.4(NFKB1):c.1005del:p.Arg336fs	coding	Pathogenic
4	102593426	TAAAG	T	A102593429G	NFKB1	NM_003998.4(NFKB1):c.1071_1074del:p.Glu358fs	coding	Pathogenic
4	102596258	AG	A	G102596260C	NFKB1	NM_003998.4(NFKB1):c.1423del:p.Ala475fs	coding	Pathogenic
4	102597560	GCATGC	G	T102597563A	NFKB1	NM_003998.4(NFKB1):c.1539_1543del:p.His513fs	coding	Pathogenic
4	102597644	GGA	G	G102597645T	NFKB1	NM_003998.4(NFKB1):c.1621_1622del:p.Gln540_Asp541insTer	coding	Pathogenic
4	102613430	T	TGG	T102613436G	NFKB1	NM_003998.4(NFKB1):c.2602_2603dup:p.Thr869fs	coding	Pathogenic
4	102632290	GA	G	A102632301T	MANBA	NM_005908.4(MANBA):c.2416-10del	noncoding	Benign
4	102635210	G	GT	A102635212T	MANBA	NM_005908.4(MANBA):c.2158-166dup	noncoding	Benign
4	102657844	AAC	A	C102657846G	MANBA	NM_005908.4(MANBA):c.1540_1541del:p.Val514fs	coding	Pathogenic
4	102664714	CAT	C	T102664716G	MANBA	NM_005908.4(MANBA):c.1454_1455del:p.Tyr485fs	coding	Pathogenic
4	102714538	G	GTCCCAACTAA	A102714549T	MANBA	NM_005908.4(MANBA):c.563_572dup:p.Trp192_Gly193insTer	coding	Pathogenic
4	103195240	GA	G	A103195248T	CENPE	NM_001813.3(CENPE):c.358-8del	noncoding	Benign
4	103196255	AAAC	A	A103196278C	CENPE	NM_001813.3(CENPE):c.149-27GTT[7]	noncoding	Benign
4	106171093	ACCAGATCTGTCTTTGGAGGATCTGGACACTCAGCAGAGAAATAAGGTGCCGAACTTCTGCCTCCACTGCTGTCAGAAGATGGCTTTGGAGGTTGAGCATGCTGTCTGTAAGTAGCACTTTTAGGAGTCCAACAAAACAGGTTGATAGATTCTCTCACACAGCGTTCAATGTCAATTT	A	C106171095T	TBCK	NM_001163435.3(TBCK):c.2060_2235+1del	noncoding	Pathogenic
4	106171238	T	TA	G106171240A	TBCK	NM_001163435.3(TBCK):c.2091dup:p.Ile698fs	coding	Pathogenic
4	106235347	GT	G	T106235355A	TBCK	NM_001163435.3(TBCK):c.1370del:p.Asn457fs	coding	Pathogenic
4	106247238	G	GTA	G106247240A	TBCK	NM_001163435.3(TBCK):c.831_832insTA:p.Pro278fs	coding	Pathogenic
4	106247263	CTTCA	C	C106247266A	TBCK	NM_001163435.3(TBCK):c.803_806del:p.Met268fs	coding	Pathogenic
4	106248273	T	TA	T106248275A	TBCK	NM_001163435.3(TBCK):c.753dup:p.Lys252Ter	coding	Pathogenic
4	106327500	TA	T	A106327503C	AIMP1	NM_001142416.2(AIMP1):c.162del:p.Lys54fs	coding	Pathogenic
4	106328142	TAC	T	C106328144G	AIMP1	NM_001142416.2(AIMP1):c.292_293del:p.Gln98fs	coding	Pathogenic
4	107932112	TC	T	C107932114A	CYP2U1	NM_183075.3(CYP2U1):c.471del:p.Ile158fs	coding	Pathogenic
4	107945260	ATCTG	A	T107945265A	CYP2U1	NM_183075.3(CYP2U1):c.782_785TCTG[1]:p.Ile261_Cys262insTer	coding	Pathogenic
4	107945331	TA	T	A107945333G	CYP2U1	NM_183075.3(CYP2U1):c.854del:p.Lys285fs	coding	Pathogenic
4	107945373	T	TA	T107945381A	CYP2U1	NM_183075.3(CYP2U1):c.901dup:p.Ile301fs	coding	Pathogenic
4	107945508	TTA	T	A107945512C	CYP2U1	NM_183075.3(CYP2U1):c.1031_1032AT[1]:p.Ile345fs	coding	Pathogenic
4	107947398	AAG	A	A107947401T	CYP2U1	NM_183075.3(CYP2U1):c.1150_1151AG[1]:p.Arg384fs	coding	Pathogenic
4	107947457	CAG	C	G107947459A	CYP2U1	NM_183075.3(CYP2U1):c.1210_1211del:p.Glu404fs	coding	Pathogenic/Likely_pathogenic
4	108014542	A	AATTC	G108014544T	HADH	NM_005327.5(HADH):c.374_375insTTCA:p.Lys125fs	coding	Pathogenic
4	108023513	TC	T	C108023514T	HADH	NM_005327.7(HADH):c.587del:p.Ser196fs	coding	Pathogenic
4	108023541	GA	G	A108023544G	HADH	NM_005327.7(HADH):c.617del:p.Lys206fs	coding	Pathogenic
4	109462891	G	GCTTTT	T109462897C	SEC24B	NM_006323.5(SEC24B):c.134-9_134-5dup	noncoding	Benign
4	109746473	C	CAT	T109746478A	CFI	NM_001318057.2(CFI):c.1198_1199AT[3]:p.Trp401fs	coding	Pathogenic
4	109766800	GAT	G	A109766801C	CFI	NM_000204.4(CFI):c.80_81del:p.Asp27fs	coding	Pathogenic
4	109869931	ATCT	A	C109869936T	LRIT3	NM_198506.5(LRIT3):c.1184_1186CTT[1]:p.Ser396del	coding	Benign/Likely_benign
4	109870284	ACT	A	C109870287G	LRIT3	NM_198506.5(LRIT3):c.1536_1537CT[1]:p.Ser513fs	coding	Pathogenic
4	110011233	G	GC	A110011238C	EGF	NM_001963.6(EGF):c.3406dup:p.Gln1136fs	coding	Benign
4	110012367	GT	G	T110012381C	EGF	NM_001963.6(EGF):c.*926del	noncoding	Benign
4	110618286	C	CA	G110618287A	PITX2	NM_000325.6(PITX2):c.813_814insT:p.Ala272fs	coding	Pathogenic
4	110618314	GGA	G	G110618315A	PITX2	NM_000325.6(PITX2):c.784_785del:p.Ser262fs	coding	Pathogenic
4	110618364	GACTGGAGCCCGGGACGCCTGTC	G	G110618369C	PITX2	NM_000325.6(PITX2):c.714_735del:p.Thr239fs	coding	Pathogenic
4	110618577	CG	TT	C110618577T	PITX2	NM_000325.6(PITX2):c.522_523delinsAA:p.Tyr174_Asp175delinsTer	coding	Pathogenic
4	110618599	G	GA	C110618602A	PITX2	NM_000325.6(PITX2):c.500dup:p.Asn168fs	coding	Pathogenic
4	110621201	AT	A	T110621204C	PITX2	NM_000325.6(PITX2):c.373del:p.Ile125fs	coding	Pathogenic
4	110621210	CGTGTGGACATGTCCGGGTAGCG	C	G110621213T	PITX2	NM_000325.6(PITX2):c.343_364del:p.Arg115fs	coding	Pathogenic
4	110621310	TC	T	C110621311T	PITX2	NM_000325.6(PITX2):c.264del:p.Lys89fs	coding	Pathogenic
4	110632944	G	GAA	G110632945A	PITX2	NM_153427.2(PITX2):c.46+8_46+9insTT	noncoding	Benign
4	110632945	G	AAC	G110632945A	PITX2	NM_153427.2(PITX2):c.46+8delinsGTT	noncoding	Benign
4	112646356	G	GAT	C112646363A	LARP7	NM_016648.4(LARP7):c.209_210AT[4]:p.Ser72fs	coding	Pathogenic
4	112646445	T	TG	T112646447G	LARP7	NM_016648.4(LARP7):c.298dup:p.Val100fs	coding	Pathogenic
4	112646904	A	ATT	G112646908T	LARP7	NM_016648.4(LARP7):c.503_504dup:p.Ala169fs	coding	Pathogenic
4	112647098	A	ATT	A112647100T	LARP7	NM_016648.4(LARP7):c.618_619insTT:p.Lys207fs	coding	Pathogenic
4	112647196	CAGAAG	C	G112647203A	LARP7	NM_015454.2(LARP7):c.651_655del	noncoding	Pathogenic
4	112647248	CAA	C	A112647249T	LARP7;MIR302CHG	NM_016648.4(LARP7):c.697_698del:p.Asn233fs	coding	Pathogenic
4	112647331	GCT	G	C112647334G	LARP7	NM_016648.4(LARP7):c.780_781CT[1]:p.Gly260_Ser261insTer	coding	Pathogenic
4	112647351	GAACCCCAAAAGCAGTGCTCAAAGAAAAAGAAAAAACGGGACAGAGTTGAAGCATCTAGCTTACCTGAAGTCAGAACAGGGAAGAGGAAGAGAAGCAGCTCTGAAGATGCAGAATCCCTAGCTCCCCGATCAAAAGTAAAGAAAATTATTCAGAAAGACATCATTAAGGAAGCATCAGAAGCTTCCAAGGAAAATAGAGGTAAAACTACAAGGTTTTAATTAGATAAAACTAATTAATTTTAATTAATTAGTTTTTAATTAATTAGGTTTTAATTGGCTTCTGTTTCACCCATTTCACAGCCCCATGTCTTAACGGAGAGCTTTTTTATTTATTTCAAGATATAGAAATCTCTACTGAAGAGGAAAAGGATACTGGAGATCTAAAAGATAGCTCTCTCTTGAAAACAAAAAGGAAACATAAGAAAAAACATAAAGAGAGACATAAAATGGGAGAAGAAGTTATACCATTAAGAGTGCTATCAAAGTAAGTCTGTGGTTTAAATTCTGTCATTGGCTTAACAATCCATCACCATTGCTAAAGTGCAATTCCAATTTATATTCAACAGAGTTGCATATTAGCAACAGTAATGGCCTGTAGCCAAGAACTGCACACAGTGTGGGCGTTAACGCAATTGCTGATTAGGTAGGAACCACCACACTCAAACATGGAAGCACTTATTTTTGTCATGTCACAGCAAGTGCCTCCATGTTAAAGTAGAGGGGGCCCCTTAACAGATGTAAAAATACAA	G	C112647354T	LARP7	NM_016648.4(LARP7):c.802_1142+267del	coding	Pathogenic
4	112647380	G	GA	C112647387A	LARP7	NM_016648.4(LARP7):c.834dup:p.Arg279fs	coding	Pathogenic
4	112647714	A	AAAAGGAT	C112647723A	LARP7	NM_016648.4(LARP7):c.1024_1030dup:p.Thr344fs	coding	Pathogenic
4	113365201	ATG	A	G113365231T	ANK2	NM_001148.6(ANK2):c.11032+20TG[14]	noncoding	Benign
4	113365202	T	TTGTG	G113365203T	ANK2	NM_001148.6(ANK2):c.11032+20_11032+21insTGTG	noncoding	Benign
4	113381243	A	AT	A113381248T	ANK2	NM_001148.6(ANK2):c.11860-210dup	noncoding	Benign
4	118280376	GTT	G	T118280378A	PRSS12	NM_003619.4(PRSS12):c.*1558_*1559del	noncoding	Benign
4	118313331	GACGT	G	A118313332C	PRSS12	NM_003619.4(PRSS12):c.1355_1358del:p.Asp452fs	coding	Pathogenic
4	118744162	GA	G	A118744168G	SEC24D	NM_014822.4(SEC24D):c.1825-5del	noncoding	Benign
4	118745062	TAA	T	A118745076C	SEC24D	NM_014822.4(SEC24D):c.1708-4_1708-3del	noncoding	Benign
4	118833583	T	TG	A118833586G	SEC24D	NM_014822.4(SEC24D):c.113dup:p.Thr39fs	coding	Pathogenic
4	119136516	C	CA	C119136524A	MYOZ2	NM_016599.5(MYOZ2):c.-3dup	noncoding	Benign
4	119185943	G	GT	A119185954T	MYOZ2	NM_016599.5(MYOZ2):c.561-13dup	noncoding	Benign
4	119259830	GA	G	A119259833G	USP53	NM_019050.2(USP53):c.583del:p.Arg195fs	coding	Pathogenic
4	119261723	T	TAG	T119261728A	USP53	NM_001371395.1(USP53):c.832_833AG[3]:p.Val279fs	coding	Pathogenic
4	119319647	C	CATAATAATAATA	G119319680A	FABP2	NM_000134.4(FABP2):c.241-34TAT[14]	noncoding	Benign
4	119501164	A	AAAT	C119501169A	PDE5A	NM_001083.4(PDE5A):c.2490+3_2490+5dup	noncoding	Benign
4	120798429	T	TA	T120798437A	PRDM5	NM_018699.3(PRDM5):c.1031-12dup	noncoding	Benign
4	120799716	AC	A	C120799717A	PRDM5	NM_018699.4(PRDM5):c.974delG	coding	Pathogenic
4	121037589	AG	A	G121037591A	NDNF	NM_024574.4(NDNF):c.381del:p.Tyr128fs	coding	Pathogenic
4	121825130	TC	T	C121825135G	BBS7	NM_176824.3(BBS7):c.*729del	noncoding	Benign
4	121828172	TGC	A	T121828172A	BBS7	NM_176824.3(BBS7):c.1986_1988delinsT:p.Lys662fs	coding	Pathogenic
4	121833252	G	GT	A121833254T	BBS7	NM_176824.3(BBS7):c.1654dup:p.Thr552fs	coding	Pathogenic
4	121833309	TCTGGAA	T	G121833312T	BBS7	NM_176824.3(BBS7):c.1592_1597del:p.Val531_Pro532del	coding	Pathogenic
4	121835182	AAG	A	A121835185G	BBS7	NM_176824.3(BBS7):c.1469_1470CT[1]:p.Leu491fs	coding	Pathogenic
4	121845515	CAT	C	A121845516T	BBS7	NM_176824.3(BBS7):c.1217_1218del:p.Asn406fs	coding	Pathogenic
4	121845670	TTA	T	T121845673C	BBS7	NM_176824.3(BBS7):c.1060_1061TA[1]:p.Tyr354_Lys355delinsTer	coding	Pathogenic
4	121847438	TA	T	A121847440T	BBS7	NM_176824.3(BBS7):c.1002del:p.Asn335fs	coding	Pathogenic
4	121854706	CCTCT	C	C121854709T	BBS7	NM_176824.3(BBS7):c.710_711AG[1]:p.Arg238fs	coding	Pathogenic
4	121854709	CTCTT	C	C121854711T	BBS7	NM_176824.3(BBS7):c.709_712del:p.Lys237fs	coding	Pathogenic
4	121854772	G	GC	A121854774C	BBS7	NM_176824.3(BBS7):c.649dup:p.Ala217fs	coding	Pathogenic
4	121855547	C	CTT	A121855548T	BBS7	NM_176824.3(BBS7):c.542_543insAA:p.Met181fs	coding	Pathogenic
4	121855559	T	TC	T121855563C	BBS7	NM_176824.3(BBS7):c.529-1dup	coding	Pathogenic
4	121859019	G	GCTCATA	A121859021T	BBS7	NM_176824.3(BBS7):c.500_501insTATGAG:p.Gln168_Asp169insMetSer	coding	Pathogenic
4	121859129	GGT	G	G121859130T	BBS7	NM_176824.3(BBS7):c.389_390del:p.Asn130fs	coding	Pathogenic
4	121861670	TG	T	G121861671A	BBS7	NM_176824.3(BBS7):c.174del:p.Phe58fs	coding	Pathogenic
4	121867994	CTG	C	G121867998C	BBS7	NM_176824.3(BBS7):c.85_86CA[1]:p.His29fs	coding	Pathogenic/Likely_pathogenic
4	122192323	T	TA	T122192325A	KIAA1109	NM_015312.3(KIAA1109):c.997dup:p.Ile333fs	coding	Pathogenic
4	122238124	GA	G	A122238128C	KIAA1109	NM_015312.3(KIAA1109):c.3611del:p.Asn1204fs	coding	Pathogenic
4	122245011	T	TC	T122245016C	KIAA1109	NM_015312.3(KIAA1109):c.4917-5dup	noncoding	Benign
4	122247338	TAGGG	T	A122247339G	KIAA1109	NM_001384125.1(KIAA1109):c.5494_5497del:p.Arg1832fs	coding	Pathogenic
4	122247343	GT	G	T122247344C	KIAA1109	NM_001384125.1(KIAA1109):c.5499del:p.Asp1835fs	coding	Pathogenic
4	122286655	CT	C	T122286656G	KIAA1109	NM_015312.4(KIAA1109):c.9153del:p.Val3052fs	coding	Pathogenic
4	122344477	C	CGCCT	T122344479C	KIAA1109	NM_015312.3(KIAA1109):c.12650_12651insCCTG:p.Ser4218fs	coding	Pathogenic
4	122742154	CTT	C	T122742157G	BBS12	NM_152618.3(BBS12):c.265_266del:p.Leu89fs	coding	Pathogenic/Likely_pathogenic
4	122742226	ATAG	A	G122742229T	BBS12	NM_152618.3(BBS12):c.337_339del:p.Val113del	coding	Pathogenic
4	122742313	A	AT	G122742315T	BBS12	NM_152618.3(BBS12):c.422dup:p.Met141fs	coding	Pathogenic
4	122742314	T	TG	A122742317G	BBS12	NM_152618.3(BBS12):c.424dup:p.Asp142fs	coding	Pathogenic/Likely_pathogenic
4	122742561	T	TA	C122742563A	BBS12	NM_152618.3(BBS12):c.670dup:p.Thr224fs	coding	Pathogenic
4	122742574	C	CT	A122742575T	BBS12	NM_152618.3(BBS12):c.682_683insT:p.Gln228fs	coding	Pathogenic/Likely_pathogenic
4	122742677	C	CT	A122742680T	BBS12	NM_152618.3(BBS12):c.787dup:p.Tyr263fs	coding	Pathogenic
4	122742815	TTA	T	A122742817G	BBS12	NM_152618.3(BBS12):c.925_926del:p.Met309fs	coding	Pathogenic
4	122742899	CTG	C	G122742901T	BBS12	NM_152618.3(BBS12):c.1009_1010del:p.Val337fs	coding	Pathogenic/Likely_pathogenic
4	122742971	AG	A	G122742974T	BBS12	NM_152618.3(BBS12):c.1082del:p.Gly361fs	coding	Pathogenic/Likely_pathogenic
4	122742975	T	GGGTG	T122742975G	BBS12	NM_152618.3(BBS12):c.1083delinsGGGTG:p.Asp362fs	coding	Pathogenic
4	122743005	ATT	A	T122743007A	BBS12	NM_152618.3(BBS12):c.1115_1116del:p.Gly371_Phe372insTer	coding	Pathogenic/Likely_pathogenic
4	122743042	AG	A	G122743043C	BBS12	NM_152618.3(BBS12):c.1151del:p.Ser384fs	coding	Pathogenic/Likely_pathogenic
4	122743157	TA	T	A122743159T	BBS12	NM_152618.3(BBS12):c.1267del:p.Ile423fs	coding	Pathogenic
4	122743210	A	AGTGTGAT	C122743219T	BBS12	NM_152618.3(BBS12):c.1320_1326dup:p.Gln443fs	coding	Pathogenic/Likely_pathogenic
4	122743373	CAG	C	G122743375A	BBS12	NM_152618.3(BBS12):c.1483_1484del:p.Glu495fs	coding	Pathogenic
4	122743466	G	GT	G122743470T	BBS12	NM_152618.3(BBS12):c.1577dup:p.Leu526fs	coding	Pathogenic
4	122743781	GCT	G	T122743785C	BBS12	NM_152618.3(BBS12):c.1891_1892TC[1]:p.Pro632fs	coding	Pathogenic
4	122929170	AG	A	G122929172C	SPATA5	NM_145207.3(SPATA5):c.421del:p.Ala141fs	coding	Pathogenic
4	122934373	CA	C	A122934376T	SPATA5	NM_145207.3(SPATA5):c.785del:p.Asn262fs	coding	Pathogenic
4	122934573	TCAA	T	C122934580G	SPATA5	NM_145207.3(SPATA5):c.983_985CAA[2]:p.Thr330del	coding	Pathogenic/Likely_pathogenic
4	122934629	C	CCA	A122934632C	SPATA5	NM_145207.3(SPATA5):c.1039_1040dup:p.Gln347fs	coding	Pathogenic
4	122934662	AT	A	T122934664A	SPATA5	NM_145207.3(SPATA5):c.1073del:p.Gly357_Leu358insTer	coding	Pathogenic/Likely_pathogenic
4	122947347	AATGCT	A	A122947348C	SPATA5	NM_145207.3(SPATA5):c.1574_1578del:p.Asn525fs	coding	Pathogenic
4	122979335	GA	G	A122979337T	SPATA5	NM_145207.3(SPATA5):c.1820del:p.Asn607fs	coding	Pathogenic
4	123028279	CG	C	G123028280A	SPATA5	NM_145207.3(SPATA5):c.1964del:p.Arg655fs	coding	Pathogenic
4	123057218	AAAGCAAG	A	A123057220G	SPATA5	NM_145207.3(SPATA5):c.2145_2151del:p.Ala716fs	coding	Pathogenic
4	123256082	AGG	A	G123256084A	SPATA5	NM_145207.3(SPATA5):c.2409_2410del:p.Glu804fs	coding	Pathogenic
4	125317605	TC	T	C125317606T	FAT4	NM_024582.4(FAT4):c.1195del:p.Leu399fs	coding	Pathogenic
4	125434258	G	GACTGGA	A125434273T	FAT4	NM_001291285.1(FAT4):c.7035_7040TGGAAC[3]:p.2346_2347GT[3]	coding	Pathogenic
4	125491333	ATC	A	T125491334C	FAT4	NM_024582.4(FAT4):c.14512_14513del:p.Ser4838fs	coding	Pathogenic
4	127643769	AT	A	T127643770A	INTU	NM_015693.4(INTU):c.396del:p.Asn132fs	coding	Pathogenic/Likely_pathogenic
4	127886668	TTAAAG	T	T127886669A	PLK4	NM_014264.5(PLK4):c.1299_1303del:p.Phe433fs	coding	Pathogenic
4	127921749	AG	A	G127921752A	MFSD8	NM_001371596.2(MFSD8):c.1124del:p.Pro375fs	coding	Pathogenic
4	127921875	TG	T	G127921878A	MFSD8	NM_152778.3(MFSD8):c.1086del:p.Ile364fs	coding	Pathogenic
4	127921900	C	CA	G127921903A	MFSD8	NM_152778.3(MFSD8):c.1061dup:p.Leu354fs	coding	Pathogenic
4	127921925	AC	A	C127921926G	MFSD8	NM_152778.3(MFSD8):c.1036del:p.Val346fs	coding	Pathogenic/Likely_pathogenic
4	127930822	GA	G	A127930832T	MFSD8	NM_001371596.2(MFSD8):c.864-6del	noncoding	Benign
4	127930822	G	GA	T127930833A	MFSD8	NM_152778.3(MFSD8):c.864-15dup	noncoding	Benign
4	127932981	T	TA	T127932982A	MFSD8	NM_152778.3(MFSD8):c.863+3_863+4insT	noncoding	Pathogenic
4	127933016	C	CA	C127933023A	MFSD8	NM_001371596.2(MFSD8):c.831dup:p.Val278fs	coding	Pathogenic/Likely_pathogenic
4	127942129	CA	GG	C127942129G	MFSD8	NM_001371596.2(MFSD8):c.468_469delinsCC:p.Ala157Pro	coding	Pathogenic
4	127943973	G	GT	A127943975T	MFSD8	NM_152778.3(MFSD8):c.217dup:p.Thr73fs	coding	Pathogenic
4	127965101	CTCCTGT	GG	C127965101G	MFSD8	NM_001371596.2(MFSD8):c.27_33delinsCC:p.Glu9fs	coding	Pathogenic
4	128948488	CT	C	T128948493A	SCLT1	NM_144643.4(SCLT1):c.1293+7del	noncoding	Benign
4	139336869	TA	T	A139336871C	NAA15	NM_057175.5(NAA15):c.163del:p.Thr55fs	coding	Pathogenic
4	139336875	TGA	T	G139336876A	NAA15	NM_057175.5(NAA15):c.168_169del:p.Asn57fs	coding	Pathogenic
4	139336932	ATGACT	A	C139336936A	NAA15	NM_057175.4(NAA15):c.228_232del:p.Asp76Glufs	coding	Pathogenic
4	139336946	CAT	C	A139336947G	NAA15	NM_057175.5(NAA15):c.239_240del:p.His80fs	coding	Pathogenic/Likely_pathogenic
4	139351602	CAAAG	C	G139351606A	NAA15	NM_057175.5(NAA15):c.1009_1012del:p.Glu337fs	coding	Pathogenic
4	139359752	AAT	A	A139359755T	NAA15	NM_057175.5(NAA15):c.1268_1269AT[1]:p.Asn423_Ile424insTer	coding	Pathogenic
4	139360534	T	TG	C139360536G	NAA15	NM_057175.5(NAA15):c.1446dup:p.Gln483fs	coding	Pathogenic
4	139360607	G	GA	T139360611A	NAA15	NM_057175.5(NAA15):c.1521dup:p.Cys508fs	coding	Pathogenic
4	139361933	TA	T	A139361934C	NAA15	NM_057175.5(NAA15):c.1750del:p.Thr584fs	coding	Pathogenic
4	139454239	CCAGCGGGG	C	C139454243T	RAB33B	NM_031296.3(RAB33B):c.48_55del:p.Gly17fs	coding	Pathogenic
4	139889909	T	TTGC	T139889969C	MAML3	NM_018717.5(MAML3):c.1470_1472GCA[20]:p.Gln510dup	coding	Benign
4	145639274	TTC	T	C145639278T	MMAA	NM_172250.3(MMAA):c.137_138CT[1]:p.Leu47fs	coding	Pathogenic
4	145639404	CTT	C	T145639406A	MMAA	NM_172250.3(MMAA):c.267_268del:p.Thr91fs	coding	Pathogenic
4	145639422	CAAGGGCA	C	A145639429C	MMAA	NM_172250.3(MMAA):c.290_296del:p.Gln97fs	coding	Pathogenic
4	145639432	GGGCCTGTTTAGCAGA	G	T145639437A	MMAA	NM_172250.3(MMAA):c.298_312del:p.Cys100_Ala104del	coding	Pathogenic
4	145639452	A	AT	A145639454T	MMAA	NM_172250.3(MMAA):c.314dup:p.Thr106fs	coding	Pathogenic
4	145642363	G	GA	T145642365A	MMAA	NM_172250.3(MMAA):c.441dup:p.Leu148fs	coding	Pathogenic
4	145642370	T	TG	C145642374G	MMAA	NM_172250.3(MMAA):c.450dup:p.Pro151fs	coding	Pathogenic
4	145642373	GC	G	C145642378T	MMAA	NM_172250.3(MMAA):c.455del:p.Pro152fs	coding	Pathogenic
4	145642408	AT	A	T145642412G	MMAA	NM_172250.3(MMAA):c.489del:p.Phe163fs	coding	Pathogenic
4	145642425	AC	A	C145642426T	MMAA	NM_172250.3(MMAA):c.503del:p.Thr168fs	coding	Pathogenic
4	145642447	CTG	C	T145642450C	MMAA	NM_172250.3(MMAA):c.525_526TG[1]:p.Val176fs	coding	Pathogenic
4	145642473	T	TG	T145642475G	MMAA	NM_172250.3(MMAA):c.551dup:p.Cys184fs	coding	Pathogenic
4	145646012	ATGAC	A	C145646016G	MMAA	NM_172250.3(MMAA):c.593_596del:p.Thr198fs	coding	Pathogenic
4	145646073	T	TA	G145646075A	MMAA	NM_172250.3(MMAA):c.651dup:p.Gly218fs	coding	Pathogenic
4	145651089	C	CT	G145651091T	MMAA	NM_172250.3(MMAA):c.762dup:p.Asp255Ter	coding	Pathogenic
4	145655208	AT	A	T145655211C	MMAA	NM_172250.3(MMAA):c.1034del:p.Phe345fs	coding	Pathogenic
4	145655373	GG	TT	G145655373T	MMAA	NM_172250.3(MMAA):c.1196_1197delinsTT:p.Gly399Val	coding	Pathogenic
4	146903704	GTTATTATGTACATC	G	A146903707C	TTC29	NM_031956.3(TTC29):c.412_425del:p.Asp138fs	coding	Pathogenic
4	146909091	TCCTCC	T	C146909092A	TTC29	NM_031956.3(TTC29):c.330_334del:p.Glu111fs	coding	Pathogenic
4	148081427	C	CG	A148081432G	NR3C2	NM_000901.5(NR3C2):c.2871dup:p.Ala958fs	coding	Pathogenic
4	148154547	CT	C	T148154548A	NR3C2	NM_000901.5(NR3C2):c.2365+3del	noncoding	Pathogenic
4	148435729	C	CA	G148435731A	NR3C2	NM_000901.5(NR3C2):c.1131dup:p.Glu378Ter	coding	Pathogenic
4	150282620	T	TCATG	G150282625C	LRBA	NM_001364905.1(LRBA):c.8142_8145dup:p.Asn2716fs	coding	Pathogenic/Likely_pathogenic
4	150467743	CA	C	A150467745G	LRBA	NM_001364905.1(LRBA):c.6709del:p.Trp2237fs	coding	Pathogenic
4	150471665	ATC	A	C150471671G	LRBA	NM_001364905.1(LRBA):c.6620_6621GA[2]:p.Glu2208fs	coding	Pathogenic
4	150588140	CAGAG	AAAA	C150588140A	LRBA	NM_001364905.1(LRBA):c.6234_6238delinsTTTT:p.Ser2079fs	coding	Pathogenic
4	150761851	T	TA	G150761862A	LRBA	NM_001364905.1(LRBA):c.5581-14dup	noncoding	Benign
4	150831981	GA	G	A150831989T	LRBA	NM_001364905.1(LRBA):c.4570-6del	noncoding	Benign
4	150852221	AGT	A	G150852222A	LRBA	NM_001364905.1(LRBA):c.3487_3488del:p.Val1162_Thr1163insTer	coding	Pathogenic
4	150852422	GAA	G	A150852423T	LRBA	NM_001364905.1(LRBA):c.3286_3287del:p.Phe1096fs	coding	Pathogenic
4	150852746	AT	A	T150852749G	LRBA	NM_001364905.1(LRBA):c.2963del:p.Asn988fs	coding	Pathogenic
4	150868191	TC	CA	T150868191C	LRBA	NM_001364905.1(LRBA):c.2563_2564delinsTG:p.Glu855Ter	coding	Pathogenic
4	150897811	C	CG	T150897814G	LRBA	NM_001364905.1(LRBA):c.1931dup:p.Arg645fs	coding	Pathogenic
4	150914350	GA	G	A150914361G	LRBA	NM_001364905.1(LRBA):c.1015-10del	noncoding	Benign
4	150914350	G	GA	G150914362A	LRBA	NM_001364905.1(LRBA):c.1015-20dup	noncoding	Benign
4	150929074	G	GAA	C150929087A	LRBA	NM_001364905.1(LRBA):c.217-21_217-20dup	noncoding	Benign
4	151014436	GAC	G	C151014438G	LRBA	NM_001364905.1(LRBA):c.205_206del:p.Val69fs	coding	Pathogenic
4	151014626	T	TTGTCTTCGCTAGC	C151014640T	LRBA	NM_001364905.1(LRBA):c.4_16dup:p.Asn6delinsSerTer	coding	Pathogenic
4	151716934	ACT	A	C151716935G	GATB	NM_004564.3(GATB):c.580_581del:p.Ser194fs	coding	Pathogenic
4	153315996	TA	T	A153315998G	TRIM2	NM_015271.5(TRIM2):c.1781del:p.Lys594fs	coding	Pathogenic
4	154569497	TTTTG	T	G154569501T	FGB	NM_005141.4(FGB):c.959-13_959-10del	noncoding	Benign
4	154571468	CA	C	A154571484G	FGB	NM_005141.4(FGB):c.*834del	noncoding	Benign
4	154584089	A	AGAAGACAGAGTGCTCCCATTCCCACTTC	T154584118G	FGA	NM_000508.5(FGA):c.*7_*34dup	noncoding	Benign
4	154584137	AG	A	G154584141C	FGA	NM_000508.5(FGA):c.2587del:p.Leu863_Val864insTer	coding	Benign
4	154585799	TC	T	C154585800T	FGA	NM_021871.4(FGA):c.1629del:p.Thr544fs	coding	Pathogenic
4	154585806	GA	G	A154585807C	FGA	NM_021871.4(FGA):c.1622del:p.Val541fs	coding	Pathogenic
4	154586483	CA	C	A154586484G	FGA	NM_021871.4(FGA):c.945del:p.Gly316fs	coding	Pathogenic
4	154586717	T	TA	T154586722A	FGA	NM_021871.4(FGA):c.711dup:p.Lys238Ter	coding	Pathogenic
4	154588819	AAAATTTCCATT	A	A154588821T	FGA	NM_021871.4(FGA):c.327_337del:p.Met110fs	coding	Pathogenic
4	154744542	CAT	C	A154744543G	LRAT	NM_004744.5(LRAT):c.217_218del:p.Met73fs	coding	Pathogenic
4	154744558	CTGTTGGCCCT	C	T154744559G	LRAT	NM_004744.5(LRAT):c.233_242del:p.Leu78fs	coding	Pathogenic/Likely_pathogenic
4	154744566	CCT	C	C154744567G	LRAT	NM_004744.5(LRAT):c.241_242del:p.Leu81fs	coding	Pathogenic
4	154744722	GAA	G	A154744726G	LRAT	NM_004744.5(LRAT):c.400_401del:p.Lys134fs	coding	Pathogenic
4	154744780	A	AC	T154744786C	LRAT	NM_004744.5(LRAT):c.459dup:p.Tyr154fs	coding	Pathogenic/Likely_pathogenic
4	154748994	CTG	C	T154748997A	LRAT	NM_004744.5(LRAT):c.554_555del:p.Val185fs	coding	Pathogenic
4	154749029	C	CT	G154749032T	LRAT	NM_004744.5(LRAT):c.588dup:p.Ala197fs	coding	Pathogenic
4	155708248	AAG	A	G155708252A	GUCY1A1	NM_001130682.3(GUCY1A1):c.332_333GA[1]:p.Glu112fs	coding	Pathogenic
4	155710647	A	AT	A155710654T	GUCY1A1	NM_001130682.3(GUCY1A1):c.488dup:p.Leu163fs	coding	Pathogenic
4	155713180	TA	T	A155713181G	GUCY1A1	NM_001130682.3(GUCY1A1):c.1170del:p.Glu391fs	coding	Pathogenic
4	155910082	C	CA	G155910085A	TDO2	NM_005651.4(TDO2):c.491dup:p.Ile165fs	coding	Pathogenic
4	157078046	GC	G	C157078048T	GLRB	NM_000824.5(GLRB):c.24del:p.Phe9_Leu10insTer	coding	Pathogenic
4	157136613	G	GA	G157136620A	GLRB	NM_000824.5(GLRB):c.448dup:p.Ser150fs	coding	Pathogenic
4	157136640	AC	A	C157136643A	GLRB	NM_000824.5(GLRB):c.472del:p.Gln158fs	coding	Pathogenic
4	158680482	A	AT	G158680484T	ETFDH	NM_004453.4(ETFDH):c.51dup:p.Ala18fs	coding	Pathogenic
4	158682225	CA	C	A158682226G	ETFDH	NM_004453.4(ETFDH):c.207del:p.Asp70fs	coding	Pathogenic
4	158682282	AAC	A	C158682284G	ETFDH	NM_004453.4(ETFDH):c.265_266del:p.Gln89fs	coding	Pathogenic
4	158682314	C	CGT	C158682323G	ETFDH	NM_004453.4(ETFDH):c.296_297GT[5]:p.Leu102fs	coding	Pathogenic
4	158684628	G	GGAAT	T158684633G	ETFDH	NM_004453.4(ETFDH):c.443_446dup:p.Ile149fs	coding	Pathogenic
4	158684671	CAGGTAAGGTATAGTGA	T	C158684671T	ETFDH	NM_004453.4(ETFDH):c.485_487+14delinsT	coding	Pathogenic
4	158703473	TG	T	G158703475T	ETFDH	NM_004453.4(ETFDH):c.1169del:p.Gly390fs	coding	Pathogenic
4	158706276	GC	G	C158706278A	ETFDH	NM_004453.4(ETFDH):c.1375del:p.His459fs	coding	Pathogenic
4	158706714	CTT	C	T158706715G	ETFDH	NM_004453.4(ETFDH):c.1555_1556del:p.Leu519fs	coding	Pathogenic
4	158706727	GCT	G	C158706730G	ETFDH	NM_004453.4(ETFDH):c.1568_1569CT[1]:p.Leu524fs	coding	Pathogenic
4	158706763	GCA	G	A158706767T	ETFDH	NM_004453.4(ETFDH):c.1605_1606AC[1]:p.His536fs	coding	Pathogenic
4	158706806	ATC	A	C158706808G	ETFDH	NM_004453.4(ETFDH):c.1648_1649del:p.Leu550fs	coding	Pathogenic
4	158708494	AG	A	G158708496T	ETFDH	NM_004453.4(ETFDH):c.1823del:p.Gly608fs	coding	Pathogenic
4	165487456	AC	A	C165487458T	CPE	NM_001873.4(CPE):c.994del:p.Ser333fs	coding	Pathogenic
4	168878150	T	TCGCCCC	A168878167C	PALLD	NM_001166108.2(PALLD):c.1965-12771CGCCCC[3]	coding	Benign
4	168878227	G	GCCA	G168878236A	PALLD	NM_001166108.2(PALLD):c.1965-12694CCA[3]	coding	Benign
4	168878233	A	ACCG	T168878241C	PALLD	NM_001166108.2(PALLD):c.1965-12688CCG[3]	coding	Benign
4	168894680	AC	A	C168894682A	PALLD	NM_001166108.2(PALLD):c.2199+5del	noncoding	Benign
4	168925208	GCT	G	C168925219T	PALLD	NM_001166108.2(PALLD):c.3359-24CT[5]	noncoding	Benign
4	168926495	TA	T	A168926505C	PALLD	NM_001166108.2(PALLD):c.*325del	noncoding	Benign
4	168928326	TA	T	A168928336G	PALLD	NM_001166108.2(PALLD):c.*2156del	noncoding	Benign
4	168928341	TATCA	T	A168928350T	PALLD	NM_001166108.2(PALLD):c.*2162_*2165ATCA[2]	noncoding	Benign
4	169438269	CAA	C	A169438274T	NEK1	NM_012224.3(NEK1):c.2504-12_2504-11del	noncoding	Benign
4	169477446	TG	T	G169477448T	NEK1	NM_001199397.3(NEK1):c.2190del:p.Asn731fs	coding	Pathogenic
4	169507757	AC	A	C169507758T	NEK1	NM_012224.3(NEK1):c.1784del:p.Ser595fs	coding	Pathogenic
4	169508310	GCC	G	C169508311T	NEK1	NM_012224.3(NEK1):c.1685_1686del:p.Arg562fs	coding	Pathogenic
4	169508826	CAT	C	T169508828G	NEK1	NM_001199398.2(NEK1):c.1558_1559del:p.Met520fs	coding	Pathogenic/Likely_pathogenic
4	169537833	A	AT	C169537836T	NEK1	NM_012224.3(NEK1):c.1640dup:p.Asn547fs	coding	Pathogenic
4	169537889	C	CTA	C169537892T	NEK1	NM_001199397.3(NEK1):c.1583_1584dup:p.Glu529Ter	coding	Pathogenic
4	169555548	T	TCA	G169555551C	NEK1	NM_012224.3(NEK1):c.1562+170_1562+171dup	noncoding	Benign
4	169561898	T	TA	G169561907A	NEK1	NM_012224.3(NEK1):c.1081-15dup	noncoding	Benign/Likely_benign
4	169587562	ATGTT	A	G169587564A	NEK1	NM_012224.3(NEK1):c.599_602del:p.Lys200fs	coding	Pathogenic
4	174517983	CAG	C	A174517986T	HPGD	NM_000860.6(HPGD):c.308_309CT[1]:p.Leu104fs	coding	Pathogenic
4	174518054	GGTCTACAAC	TG	G174518054T	HPGD	NM_000860.6(HPGD):c.232_241delinsCA:p.Val78fs	coding	Pathogenic
4	174521984	CAG	C	A174521987T	HPGD	NM_000860.6(HPGD):c.173_174CT[1]:p.Leu59fs	coding	Pathogenic
4	174522355	T	TTAC	C174522359T	HPGD	NM_000860.6(HPGD):c.93+1_93+3dup	noncoding	Benign/Likely_benign
4	176711631	G	GAA	G176711632A	VEGFC	NM_005429.5(VEGFC):c.571_572insTT:p.Pro191fs	coding	Pathogenic
4	177434387	CA	C	A177434388G	AGA	NM_000027.4(AGA):c.800del:p.Leu267fs	coding	Pathogenic
4	177434387	C	CA	G177434389A	AGA	NM_000027.4(AGA):c.800dup:p.Pro268fs	coding	Pathogenic/Likely_pathogenic
4	177436360	TA	T	A177436372T	AGA	NM_000027.4(AGA):c.623-10del	noncoding	Benign
4	177437468	TACCA	T	A177437469G	AGA	NM_000027.4(AGA):c.555_558del:p.Gly186fs	coding	Pathogenic
4	177439593	AGT	A	G177439602T	AGA	NM_000027.4(AGA):c.367_368AC[4]:p.Leu126fs	coding	Pathogenic
4	177439593	AGTGT	A	G177439600T	AGA	NM_000027.4(AGA):c.367_368AC[3]:p.Thr125fs	coding	Pathogenic
4	177439598	GTGTGT	G	G177439602A	AGA	NM_000027.4(AGA):c.367_371del:p.Thr123fs	coding	Pathogenic
4	177439633	CA	C	A177439635T	AGA	NM_000027.4(AGA):c.336del:p.Ile112fs	coding	Pathogenic
4	177439640	AT	A	T177439645A	AGA	NM_000027.4(AGA):c.329del:p.Asn110fs	coding	Pathogenic
4	177440337	CA	C	A177440338G	AGA	NM_000027.4(AGA):c.216del:p.Ser72_Val73insTer	coding	Pathogenic
4	177440343	CG	C	G177440344T	AGA	NM_000027.4(AGA):c.210del:p.Asp70fs	coding	Pathogenic
4	177440352	GCT	G	T177440360A	AGA	NM_000027.4(AGA):c.194_195AG[3]:p.Glu67fs	coding	Pathogenic/Likely_pathogenic
4	177442248	C	CCCGCAT	T177442250C	AGA	NM_000027.4(AGA):c.127_128insATGCGG:p.Ala43_Trp44insAspAla	coding	Pathogenic/Likely_pathogenic
4	177442267	TAAAGGGC	T	A177442268C	AGA	NM_000027.4(AGA):c.102_108del:p.Thr33_Trp34insTer	coding	Pathogenic/Likely_pathogenic
4	177442268	AAAGGGCC	A	G177442272T	AGA	NM_000027.4(AGA):c.101_107del:p.Trp34fs	coding	Pathogenic
4	182688212	G	GA	C182688214A	TENM3	NM_001080477.4(TENM3):c.2083dup:p.Thr695fs	coding	Pathogenic
4	183675156	CT	C	T183675161A	TRAPPC11	NM_021942.6(TRAPPC11):c.661-3del	noncoding	Benign
4	183693075	C	CT	C183693079T	TRAPPC11	NM_021942.6(TRAPPC11):c.2168dup:p.Lys724fs	coding	Pathogenic
4	183694658	GTA	G	A183694662G	TRAPPC11	NM_021942.6(TRAPPC11):c.2565_2566AT[1]:p.Tyr856fs	coding	Pathogenic/Likely_pathogenic
4	183694726	A	AT	A183694734T	TRAPPC11	NM_021942.6(TRAPPC11):c.2628+10dup	noncoding	Benign
4	185144767	CAGCATGCCAGCAAACAGATCAG	C	A185144768T	SLC25A4	NM_001151.4(SLC25A4):c.116_137del:p.Gln39fs	coding	Pathogenic
4	185145173	AC	A	C185145175A	SLC25A4	NM_001151.4(SLC25A4):c.523del:p.Gln175fs	coding	Pathogenic
4	185147143	CAT	C	A185147144G	SLC25A4	NM_001151.4(SLC25A4):c.*173_*174del	noncoding	Benign
4	185147293	CTTA	C	T185147297A	SLC25A4	NM_001151.4(SLC25A4):c.*323_*325TTA[1]	noncoding	Benign
4	185515162	CT	C	T185515163G	PDLIM3	NM_014476.5(PDLIM3):c.331-826del	noncoding	Benign
4	185523450	GAAATA	G	A185523460T	PDLIM3	NM_014476.5(PDLIM3):c.246-9_246-5del	noncoding	Benign/Likely_benign
4	186191998	CT	C	T186191999G	CYP4V2	NM_207352.4(CYP4V2):c.176del:p.Leu59fs	coding	Pathogenic
4	186194501	ATT	A	T186194506C	CYP4V2	NM_207352.4(CYP4V2):c.221_222del:p.Phe74fs	coding	Pathogenic
4	186199039	G	GA	C186199042A	CYP4V2	NM_207352.4(CYP4V2):c.759dup:p.His254fs	coding	Pathogenic
4	186201150	CATACAGGTCATCGCT	C	A186201151G	CYP4V2	NM_207352.4(CYP4V2):c.802-6_810del	noncoding	Pathogenic
4	186208895	AC	A	C186208897T	CYP4V2	NM_207352.4(CYP4V2):c.1123del:p.Asp374_Leu375insTer	coding	Pathogenic
4	186209086	TTGACAGCAGGTTACAG	T	T186209087A	CYP4V2	NM_207352.4(CYP4V2):c.1226-6_1235del	noncoding	Pathogenic
4	186236896	G	GT	C186236904T	KLKB1	NM_000892.5(KLKB1):c.451dup:p.Ser151fs	coding	Benign
4	186274238	ACG	A	C186274239T	F11	NM_000128.4(F11):c.449_450del:p.Thr150fs	coding	Pathogenic
4	186284084	TGTTG	T	G186284085C	F11	NM_000128.3(F11):c.1136-7_1136-4del	noncoding	Pathogenic/Likely_pathogenic
4	186284230	G	GGATATTA	A186284238G	F11	NM_000128.3(F11):c.1275_1281dup:p.Thr428fs	coding	Pathogenic
4	186285781	TG	T	G186285782T	F11	NM_000128.4(F11):c.1449del:p.Leu483fs	coding	Pathogenic
5	218355	CA	C	A218356T	SDHA	NM_004168.4(SDHA):c.1del:p.Met1fs	coding	Pathogenic/Likely_pathogenic
5	218382	GC	G	C218383T	SDHA	NM_004168.4(SDHA):c.28del:p.Leu10fs	coding	Pathogenic
5	218395	C	CGGCGCCT	T218408C	SDHA	NM_004168.4(SDHA):c.46_52dup:p.Leu18fs	coding	Pathogenic
5	223500	A	AC	A223502C	SDHA	NM_004168.4(SDHA):c.83dup:p.Gly29fs	coding	Pathogenic
5	223515	TTTCACTTCAC	T	T223517G	SDHA	NM_004168.4(SDHA):c.99_108del:p.Phe33fs	coding	Pathogenic
5	224379	T	TA	G224381A	SDHA	NM_004168.4(SDHA):c.171dup:p.Val58fs	coding	Pathogenic/Likely_pathogenic
5	224419	A	AG	C224424G	SDHA	NM_004168.4(SDHA):c.214dup:p.Ala72fs	coding	Pathogenic
5	224452	TGAGGCAGG	T	A224454T	SDHA	NM_004168.4(SDHA):c.245_252del:p.Glu82fs	coding	Pathogenic
5	224461	G	GTTTA	A224466T	SDHA	NM_004168.4(SDHA):c.253_256dup:p.Asn86delinsIleTer	coding	Pathogenic
5	224516	G	GCA	G224521C	SDHA	NM_004168.4(SDHA):c.308_309CA[3]:p.Gln104fs	coding	Pathogenic
5	225482	AC	A	C225484G	SDHA	NM_004168.4(SDHA):c.378del:p.Thr126_Val127insTer	coding	Pathogenic
5	225879	ACAG	A	A225881T	SDHA	NM_004168.4(SDHA):c.457-2_457del	noncoding	Pathogenic
5	225909	CA	C	A225910G	SDHA	NM_004168.4(SDHA):c.484del:p.Arg162fs	coding	Pathogenic
5	225981	GGCCCATCGGT	G	C225984T	SDHA	NM_004168.4(SDHA):c.558_567del:p.His187fs	coding	Pathogenic
5	226045	AG	C	A226045C	SDHA	NM_004168.4(SDHA):c.619_620delinsC:p.Ser208fs	coding	Pathogenic
5	228163	CT	C	T228172C	SDHA	NM_004168.4(SDHA):c.622-13del	noncoding	Benign
5	228205	CTA	C	A228207T	SDHA	NM_004168.4(SDHA):c.644_645del:p.Tyr215fs	coding	Pathogenic
5	228228	TG	T	G228230A	SDHA	NM_004168.4(SDHA):c.667del:p.Asp223fs	coding	Pathogenic
5	228247	TG	T	G228251A	SDHA	NM_004168.4(SDHA):c.688del:p.Glu230fs	coding	Pathogenic
5	228253	G	GT	G228255T	SDHA	NM_004168.4(SDHA):c.691dup:p.Cys231fs	coding	Pathogenic
5	228261	GT	G	T228262G	SDHA	NM_004168.4(SDHA):c.699del:p.Val234fs	coding	Pathogenic
5	228282	AGGACG	A	A228285T	SDHA	NM_004168.4(SDHA):c.722_726del:p.Asp241fs	coding	Pathogenic
5	228323	GTTGCCACAGGGTAGGAATCTCATTTC	G	T228325A	SDHA	NM_004168.4(SDHA):c.762_770+17del	coding	Pathogenic
5	233472	TGCAGGCATATATGGTGCTGGTTGTCTCATTACGGAAGGATGTCGTGGAGAGGGAGGCATTCTCATTAACAGTCAAGGCGAAAGGTTTATGGAGCGATACGCCCCTGTCGCGAAGGACCTGGCGTCTAGAGATGTGGTGTCTCGGTCCATGACTCTGGAGATCCGAGAAGGAAGGTGCGTGTGATTTACCACCAGCACTGTCTGAGCGGGCACACGGGCCGGGGTTGCTTCTGTGAGTTTCAGCACCGCTCGCCCTCACCTTCGTGTGCAGGCGCATGTGCACAGCCACCTCTCTTAGCTGCTGGCAGGCGTCTGTTAGTCTGCGATATTTTCCTAAAGACCTACATTTTGAAAATTTTAGCCAGTTTCTTTCTCAAATCTGTGGAACAGAGTTTCTCTTAGTGTGTGTGAGTATGTGACGGAGTATGGGAGAGAGAGACACACACCCAACCTGAAGTCGGCATGTGAGCCTTGGGTGTTGTGTCTGATACCCACAGATGTTTTTTGGCAGCTTTCAAAGTGTGTGGGTTATTTGGCTTTCAGTAAAACAGTTTGCAGCTCTTTCATTGCCTGACCCTGTTCTTTAATGTAATGACATTTGCTAAATATCTGCTGGTATGGCCTTTAGAGGTTTTACATTTTTATATTAAAAAAACAGAGAAGTCAGGTGGGGCGCAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAAGCGGGCAGATCAGGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTGATGGCAGGTGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCTGGGAGGCGGAGCTTGCAGTGAGCTGAGATCACACCACTGCACTCCAGCCTGGGCGACAGAGCAACACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAACAGAGAAGTCAAATGGTTTTTTGGAATATGGTGGCCCTCCGTACCCATTGGTTCCACATGTGTGGTTTCAGCCAACTATGTATTGAAAATAAAATTGCATCCTTACAAATATGCAGACTTTTTTTCCTTGTCATTGTTCCCTTAACAATACAGTGTAACAGCTATTTACGTAGCATTTACATTGTATTAGGTACTATGAGTCATCCTGGAGTTGCTGTAAAACTTAAACGTAAAACTTGAAATGAGGATGATTTAAAGTATAGAGGAGGATGTGCATAGGTTATATGCAAATACTCTCCCATTTTATATTAGGGACTTGAGCATCCACGGATTTTGGTATCCGTGGGGGTCCTGGACCCAACCTGCCACGGATACGCAGGGACGACTGTATTTGGCATAGAGGCCTTTCTAATGCACTTACCAAGGACACCTGCAGCAGGCTGTGATCCCTGAGACGAGCGTGAGTTTAGTGAGGGCAGAGTTTTTGTTCTGGTTCTCAGCTGTGTCCCAGCACCTGGGATTGTCCCTGGCACACAGTAGCTGCTTAGAAAAGATTTGATGAGAGGGTGACCATACATGAGGGGAAATTTTCCTCAGTATCAAAACATGTTGAAACTCACACACTTCCAAGATGACGTATTCTCAGGTCTCCTGCCGTTGCCGTTCTCTGCCGTATGTGATGGTGTTCTGTCTTACCAGAGGCTGTGGCCCTGAGAAAGATCACGTCTACCTGCAGCTGCACCACCTACCTCCAGAGCAGCTGGCCACGCGCCTGCCTGGCATTTCAGAGACAGCCATGATCTTCGCTGGCGTGGACGTCACGAAGGAGCCGATCCCTGTCCTCCCCACCGTGCATTATAACATGGGCGGCATTCCCACCAACTACAAGGG	T	C233478T	SDHA	NM_004168.4(SDHA):c.897_1260+1del	noncoding	Pathogenic
5	233522	A	AG	A233526G	SDHA	NM_004168.4(SDHA):c.944dup:p.Gly316fs	coding	Pathogenic
5	233523	GGGA	TCC	G233523T	SDHA	NM_004168.4(SDHA):c.942_945delinsTCC:p.Glu314fs	coding	Pathogenic
5	233570	AC	A	C233571G	SDHA	NM_004168.4(SDHA):c.990del:p.Arg329_Tyr330insTer	coding	Pathogenic
5	233575	CCT	C	C233576G	SDHA	NM_004168.4(SDHA):c.995_996del:p.Pro332fs	coding	Pathogenic
5	236504	TA	T	A236505C	SDHA	NM_004168.4(SDHA):c.1338del:p.His447fs	coding	Pathogenic
5	236563	G	GC	A236565C	SDHA	NM_004168.4(SDHA):c.1397dup:p.Cys467fs	coding	Pathogenic
5	236598	TGG	T	G236599T	SDHA	NM_004168.4(SDHA):c.1432_1432+1del	coding	Pathogenic/Likely_pathogenic
5	240451	CG	GA	C240451G	SDHA	NM_004168.4(SDHA):c.1526_1527delinsGA:p.Ser509Ter	coding	Pathogenic
5	240471	C	CA	G240473A	SDHA	NM_004168.4(SDHA):c.1547dup:p.Lys517fs	coding	Pathogenic
5	251017	TC	T	C251019G	SDHA	NM_004168.4(SDHA):c.1579del:p.Arg527fs	coding	Pathogenic
5	251051	G	GA	T251056A	SDHA	NM_004168.4(SDHA):c.1615dup:p.Ile539fs	coding	Pathogenic
5	251095	TC	T	C251096G	SDHA	NM_004168.4(SDHA):c.1656del:p.Phe552fs	coding	Pathogenic
5	477346	AG	A	G477347A	SLC9A3	NM_004174.4(SLC9A3):c.1745del:p.Ser582fs	coding	Pathogenic
5	484669	G	GC	A484676C	SLC9A3	NM_004174.4(SLC9A3):c.782dup:p.Thr262fs	coding	Pathogenic
5	491930	TAGA	T	A491940C	SLC9A3	NM_004174.4(SLC9A3):c.341_343TCT[3]:p.Phe117del	coding	Pathogenic
5	1214059	CTG	C	T1214062C	SLC6A19	NM_001003841.3(SLC6A19):c.882_883TG[1]:p.Val295fs	coding	Pathogenic
5	1221786	C	CG	C1221787G	SLC6A19	NM_001003841.3(SLC6A19):c.1787_1788insG:p.Ile597fs	coding	Pathogenic
5	1244686	C	CCTG	A1244696C	SLC6A18	NM_182632.3(SLC6A18):c.1576_1578CTG[4]:p.Leu528dup	coding	Benign
5	1253545	AGGCCTCAGCCGGACACTCAGCCTTCAGCCGGACATGCAGGCCTCGGCCAAACACTCACTCAGGCCTCAGACTCCCAGCGGTGCGGGCCTGGGTGTGGGCCGCCCCTCCCTCCCTGGGACGTAGAGCCCGGCGTGACAGGGCTGCTGGTGTCTGCTCTCGGCCTGGCTGTGGGCGGGT	A	T1253550A	TERT	NM_198253.3(TERT):c.*6_*182del	noncoding	Pathogenic
5	1255332	CAG	C	G1255336T	TERT	NM_198253.3(TERT):c.3108_3109CT[1]:p.Ile1036_Ser1037insTer	coding	Pathogenic
5	1258638	AC	A	C1258639A	TERT	NM_198253.3(TERT):c.2991del:p.Cys998fs	coding	Pathogenic
5	1268561	G	GC	G1268564C	TERT	NM_198253.3(TERT):c.2540dup:p.Asp848fs	coding	Pathogenic
5	1278686	GA	G	A1278687C	TERT	NM_198253.3(TERT):c.2240del:p.Val747fs	coding	Pathogenic
5	1282485	GT	G	T1282487C	TERT	NM_198253.3(TERT):c.1712del:p.Asn571fs	coding	Pathogenic
5	1282511	CAT	C	T1282513A	TERT	NM_198253.3(TERT):c.1685_1686del:p.Tyr562fs	coding	Pathogenic
5	1293505	CCTG	C	T1293507C	TERT	NM_198253.3(TERT):c.1378_1380del:p.Gln460del	coding	Benign
5	1293714	GGCCGCATTTGCCAGTA	G	C1293717G	TERT	NM_198253.3(TERT):c.1156_1171del:p.Tyr386fs	coding	Pathogenic
5	1293751	ACCTGCGGGGAGTC	A	C1293756G	TERT	NM_198253.3(TERT):c.1122_1134del:p.Thr375fs	coding	Pathogenic
5	1293836	CAG	C	A1293841C	TERT	NM_198253.3(TERT):c.1044_1045CT[2]:p.Leu350fs	coding	Pathogenic
5	1294272	T	TG	T1294275G	TERT	NM_198253.3(TERT):c.613dup:p.His205fs	coding	Pathogenic
5	1294306	GG	AA	G1294306A	TERT	NM_198253.3(TERT):c.579_580delinsTT:p.Arg194Ter	coding	Pathogenic
5	1294548	T	TC	G1294550C	TERT	NM_198253.3(TERT):c.337dup:p.Glu113fs	coding	Pathogenic
5	1294549	C	CG	C1294557G	TERT	NM_198253.3(TERT):c.336dup:p.Glu113fs	coding	Pathogenic
5	1294877	AG	A	G1294878C	TERT	NM_198253.3(TERT):c.112del:p.Leu38fs	coding	Pathogenic
5	1420603	AG	A	G1420605T	SLC6A3	NM_001044.5(SLC6A3):c.892del:p.Tyr297_Leu298insTer	coding	Pathogenic
5	6605281	TCTCA	T	C6605284G	NSUN2	NM_017755.6(NSUN2):c.1725_1728del:p.Ser575fs	coding	Pathogenic
5	6616727	CT	C	T6616729C	NSUN2	NM_017755.6(NSUN2):c.1020del:p.Gly341fs	coding	Pathogenic
5	6620164	CATCT	C	A6620169G	NSUN2	NM_017755.6(NSUN2):c.749_752AGAT[1]:p.Ile251fs	coding	Pathogenic
5	6632601	TTTGTA	T	T6632602A	NSUN2	NM_017755.6(NSUN2):c.247_251del:p.Tyr83fs	coding	Pathogenic
5	6632914	G	GCCAT	T6632921A	NSUN2	NM_017755.6(NSUN2):c.62_65dup:p.Ala23fs	coding	Pathogenic
5	7712907	ATC	A	C7712913A	ADCY2	NM_020546.3(ADCY2):c.1622+9TC[2]	noncoding	Benign
5	7870902	C	CT	G7870904T	MTRR	NM_002454.3(MTRR):c.109dup:p.Cys37fs	coding	Pathogenic
5	7873472	CA	C	A7873473G	MTRR	NM_002454.3(MTRR):c.230del:p.Gln77fs	coding	Pathogenic
5	7873511	CG	C	G7873513T	MTRR	NM_002454.3(MTRR):c.270del:p.Tyr91fs	coding	Pathogenic
5	7875292	TG	T	G7875298A	MTRR	NM_002454.3(MTRR):c.324del:p.Lys109fs	coding	Pathogenic/Likely_pathogenic
5	7878273	GT	G	T7878276A	MTRR	NM_002454.3(MTRR):c.734del:p.Leu245fs	coding	Pathogenic
5	7878277	AC	A	C7878282A	MTRR	NM_002454.3(MTRR):c.740del:p.Pro247fs	coding	Pathogenic
5	7878282	CA	C	A7878283G	MTRR	NM_002454.3(MTRR):c.741del:p.Glu248fs	coding	Pathogenic
5	7885681	T	TTC	C7885682T	MTRR	NM_002454.3(MTRR):c.904-20_904-19insTC	noncoding	Benign
5	7889103	GC	AT	G7889103A	MTRR	NM_002454.3(MTRR):c.1155_1156delinsAT:p.Arg386Ter	coding	Pathogenic
5	7889110	CTTGTGGACTATACCAGTGACAGTGCT	C	T7889111G	MTRR	NM_002454.3(MTRR):c.1163_1188del:p.Leu388fs	coding	Pathogenic
5	7889130	CAG	C	A7889131T	MTRR	NM_002454.3(MTRR):c.1183_1184del:p.Ser395fs	coding	Pathogenic
5	7900883	TC	T	C7900884A	MTRR	NM_002454.3(MTRR):c.*826del	noncoding	Benign
5	10265774	C	CTCTAT	G10265778A	CCT5	NM_012073.5(CCT5):c.*994_*995insATTCT	noncoding	Benign
5	13701316	T	TA	C13701324A	DNAH5	NM_001369.2(DNAH5):c.13458dup:p.Asn4487Ter	coding	Pathogenic/Likely_pathogenic
5	13701339	CAGTG	C	T13701342G	DNAH5	NM_001369.2(DNAH5):c.13432_13435del:p.His4478fs	coding	Pathogenic
5	13708122	CT	C	T13708128C	DNAH5	NM_001369.2(DNAH5):c.13338del:p.Ala4447fs	coding	Pathogenic
5	13708263	TTCTG	T	G13708267A	DNAH5	NM_001369.2(DNAH5):c.13194_13197del:p.Asp4398fs	coding	Pathogenic/Likely_pathogenic
5	13714469	GC	G	C13714471T	DNAH5	NM_001369.2(DNAH5):c.13060del:p.Ala4354fs	coding	Pathogenic
5	13716545	T	TA	C13716551A	DNAH5	NM_001369.2(DNAH5):c.12850dup:p.Tyr4284fs	coding	Pathogenic
5	13716632	ACT	A	C13716635G	DNAH5	NM_001369.2(DNAH5):c.12760_12761AG[1]:p.Arg4254fs	coding	Pathogenic
5	13717420	C	CT	G13717423T	DNAH5	NM_001369.2(DNAH5):c.12599dup:p.Phe4201fs	coding	Pathogenic
5	13719085	AG	A	G13719086A	DNAH5	NM_001369.2(DNAH5):c.12295del:p.Leu4099fs	coding	Pathogenic
5	13721054	CA	C	A13721055T	DNAH5	NC_000005.10:g.13721055del	coding	Pathogenic
5	13727638	TTTTCTCA	T	A13727645G	DNAH5	NC_000005.10:g.13727645_13727651del	coding	Pathogenic
5	13729468	GT	G	T13729471G	DNAH5	NM_001369.2(DNAH5):c.11853del:p.Lys3951fs	coding	Pathogenic
5	13737391	CTGGGTACT	C	G13737394T	DNAH5	NM_001369.2(DNAH5):c.11308_11315del:p.Ser3770fs	coding	Pathogenic
5	13751218	TA	T	A13751221G	DNAH5	NM_001369.2(DNAH5):c.11070del:p.Phe3690fs	coding	Pathogenic
5	13752251	CA	C	A13752252G	DNAH5	NM_001369.2(DNAH5):c.10910del:p.Leu3637fs	coding	Pathogenic
5	13753248	GCTTT	G	C13753253A	DNAH5	NM_001369.2(DNAH5):c.10849_10852AAAG[1]:p.Glu3618fs	coding	Pathogenic
5	13753289	GA	G	A13753290T	DNAH5	NM_001369.2(DNAH5):c.10815del:p.Pro3606fs	coding	Pathogenic
5	13754253	CT	C	T13754256C	DNAH5	NM_001369.2(DNAH5):c.10504del:p.Arg3502fs	coding	Pathogenic
5	13754293	CTGTCTGCATCTTG	C	T13754304G	DNAH5	NM_001369.2(DNAH5):c.10452_10464del:p.His3484fs	coding	Pathogenic
5	13762806	T	TA	C13762808A	DNAH5	NC_000005.10:g.13762807dup	coding	Pathogenic
5	13766096	CA	C	A13766097G	DNAH5	NM_001369.2(DNAH5):c.9980del:p.Leu3327fs	coding	Pathogenic
5	13769143	CA	C	A13769145T	DNAH5	NM_001369.2(DNAH5):c.9721-8del	noncoding	Benign
5	13769600	CA	C	A13769602T	DNAH5	NM_001369.2(DNAH5):c.9620del:p.Leu3207fs	coding	Pathogenic
5	13769608	TATTC	T	A13769613T	DNAH5	NM_001369.2(DNAH5):c.9609_9612delGAAT	coding	Pathogenic
5	13770839	T	TG	T13770843G	DNAH5	NM_001369.2(DNAH5):c.9514dup:p.His3172fs	coding	Pathogenic
5	13770904	GC	G	C13770907A	DNAH5	NM_001369.2(DNAH5):c.9449del:p.Gly3150fs	coding	Pathogenic/Likely_pathogenic
5	13776446	TA	T	A13776449G	DNAH5	NM_001369.2(DNAH5):c.9365del:p.Ala3121_Leu3122insTer	coding	Pathogenic/Likely_pathogenic
5	13777267	T	TG	A13777269G	DNAH5	NM_001369.2(DNAH5):c.9039dup:p.Thr3014fs	coding	Pathogenic
5	13777307	TC	T	C13777308G	DNAH5	NM_001369.2(DNAH5):c.8999del:p.Arg3000fs	coding	Pathogenic
5	13780910	AC	A	C13780914G	DNAH5	NM_001369.2(DNAH5):c.8869del:p.Val2957fs	coding	Pathogenic
5	13780915	GA	G	A13780916C	DNAH5	NM_001369.2(DNAH5):c.8864del:p.Val2955fs	coding	Pathogenic
5	13786212	C	CACCAT	G13786218A	DNAH5	NC_000005.10:g.13786213_13786217dup	coding	Pathogenic
5	13788755	ATG	A	G13788759C	DNAH5	NM_001369.2(DNAH5):c.8604_8605CA[1]:p.Thr2869fs	coding	Pathogenic
5	13791994	ATTTGGTTC	A	T13791995C	DNAH5	NM_001369.2(DNAH5):c.8440_8447del:p.Lys2813_Glu2814insTer	coding	Pathogenic
5	13792056	CT	C	T13792057C	DNAH5	NC_000005.10:g.13792057del	coding	Pathogenic
5	13792120	C	CG	C13792121G	DNAH5	NM_001369.2(DNAH5):c.8321_8322insC:p.Trp2774fs	coding	Pathogenic
5	13793713	C	CTA	C13793717A	DNAH5	NM_001369.2(DNAH5):c.8024_8025dup:p.Val2676Ter	coding	Pathogenic
5	13794031	G	GT	A13794035T	DNAH5	NM_001369.2(DNAH5):c.7914dup:p.Arg2639fs	coding	Pathogenic
5	13794044	GCTCT	G	C13794047A	DNAH5	NM_001369.2(DNAH5):c.7896_7897AG[1]:p.Glu2633fs	coding	Pathogenic
5	13810124	G	GTCCC	G13810130C	DNAH5	NM_001369.2(DNAH5):c.7540_7543dup:p.Thr2515fs	coding	Pathogenic
5	13810164	GCCGT	G	G13810171A	DNAH5	NC_000005.10:g.13810167_13810170GTCC[1]	coding	Pathogenic
5	13810187	G	GC	G13810193C	DNAH5	NC_000005.10:g.13810192dup	coding	Pathogenic
5	13810218	ACAGCCGCCCCAGGT	G	A13810218G	DNAH5	NM_001369.2(DNAH5):c.7436_7450delinsC:p.His2479fs	coding	Pathogenic
5	13817600	CCAGT	C	G13817603T	DNAH5	NM_001369.2(DNAH5):c.6932_6935del:p.Asp2311fs	coding	Pathogenic
5	13823344	CA	C	A13823349C	DNAH5	NM_001369.2(DNAH5):c.6605del:p.Phe2201_Leu2202insTer	coding	Pathogenic
5	13824269	C	CT	G13824275T	DNAH5	NM_001369.2(DNAH5):c.6508dup:p.Arg2170fs	coding	Pathogenic
5	13829529	TCA	T	C13829534G	DNAH5	NM_001369.2(DNAH5):c.6419_6420TG[2]:p.Cys2141_Glu2142delinsTer	coding	Pathogenic
5	13829610	AT	A	T13829611G	DNAH5	NM_001369.2(DNAH5):c.6343del:p.Ile2114_Ile2115insTer	coding	Pathogenic
5	13829618	C	CA	T13829619A	DNAH5	NM_001369.2(DNAH5):c.6335_6336insT:p.Gln2112fs	coding	Pathogenic
5	13829660	CT	C	T13829662C	DNAH5	NM_001369.2(DNAH5):c.6293del:p.Lys2098fs	coding	Pathogenic
5	13829680	CC	T	C13829680T	DNAH5	NM_001369.2(DNAH5):c.6273_6274delinsA:p.Glu2092fs	coding	Pathogenic
5	13839356	C	CT	G13839358T	DNAH5	NM_001369.2(DNAH5):c.5881dup:p.Arg1961fs	coding	Pathogenic
5	13840948	CAG	C	A13840951T	DNAH5	NM_001369.2(DNAH5):c.5663_5664CT[1]:p.Leu1889fs	coding	Pathogenic/Likely_pathogenic
5	13841051	A	AT	A13841059T	DNAH5	NM_001369.2(DNAH5):c.5563dup:p.Ile1855fs	coding	Pathogenic
5	13841918	CAA	C	A13841936G	DNAH5	NM_001369.2(DNAH5):c.5272-16_5272-15del	noncoding	Benign
5	13841918	CA	C	A13841937G	DNAH5	NM_001369.2(DNAH5):c.5272-15del	noncoding	Benign
5	13844977	G	GT	C13844984T	DNAH5	NM_001369.2(DNAH5):c.5130dup:p.Arg1711fs	coding	Pathogenic
5	13862641	CG	C	G13862644T	DNAH5	NM_001369.2(DNAH5):c.4702del:p.Arg1568fs	coding	Pathogenic
5	13862738	T	TA	C13862740A	DNAH5	NM_001369.2(DNAH5):c.4605dup:p.Ile1536fs	coding	Pathogenic
5	13864592	C	CA	G13864599A	DNAH5	NM_001369.2(DNAH5):c.4400dup:p.Leu1467fs	coding	Pathogenic
5	13865865	AG	A	G13865866T	DNAH5	NM_001369.2(DNAH5):c.4157del:p.Thr1386fs	coding	Pathogenic
5	13866222	GA	G	A13866225C	DNAH5	NM_001369.2(DNAH5):c.4113del:p.Gln1372fs	coding	Pathogenic
5	13867921	CA	C	A13867922G	DNAH5	NM_001369.2(DNAH5):c.3905del:p.Leu1302fs	coding	Pathogenic
5	13867994	TA	T	A13868003T	DNAH5	NM_001369.2(DNAH5):c.3835-3del	noncoding	Benign/Likely_benign
5	13871571	CAG	C	A13871574C	DNAH5	NM_001369.2(DNAH5):c.3587_3588CT[1]:p.Leu1197fs	coding	Pathogenic
5	13871695	AT	A	T13871696G	DNAH5	NM_001369.2(DNAH5):c.3466del:p.Ile1156fs	coding	Pathogenic
5	13871758	AT	A	T13871759A	DNAH5	NC_000005.10:g.13871759del	coding	Pathogenic
5	13876701	T	TCA	A13876702C	DNAH5	NM_001369.2(DNAH5):c.3378_3379insTG:p.Ile1127Ter	coding	Pathogenic
5	13876737	CTT	C	T13876739G	DNAH5	NM_001369.2(DNAH5):c.3341_3342del:p.Lys1114fs	coding	Pathogenic
5	13876788	G	GT	A13876790T	DNAH5	NM_001369.2(DNAH5):c.3291dup:p.Pro1098fs	coding	Pathogenic
5	13883037	ACGCT	A	C13883038T	DNAH5	NM_001369.2(DNAH5):c.3037_3040del:p.Val1014fs	coding	Pathogenic
5	13885129	GTTTC	G	C13885137T	DNAH5	NC_000005.10:g.13885133CTTT[1]	coding	Pathogenic
5	13885199	AG	A	G13885201T	DNAH5	NM_001369.2(DNAH5):c.2772del:p.Thr924_Leu925insTer	coding	Pathogenic
5	13886135	CAAAA	C	A13886151G	DNAH5	NM_001369.2(DNAH5):c.2578-10_2578-7del	noncoding	Benign/Likely_benign
5	13886135	CAA	C	A13886153G	DNAH5	NM_001369.2(DNAH5):c.2578-8_2578-7del	noncoding	Benign
5	13886135	CA	C	A13886154G	DNAH5	NM_001369.2(DNAH5):c.2578-7del	noncoding	Benign
5	13886135	C	CAAAAAAAAAAAAA	G13886155A	DNAH5	NM_001369.2(DNAH5):c.2578-25_2578-13dup	noncoding	Benign
5	13894796	ACT	A	C13894801G	DNAH5	NM_001369.2(DNAH5):c.2283_2284del	coding	Pathogenic
5	13894819	C	CA	T13894821A	DNAH5	NM_001369.2(DNAH5):c.2261dup:p.Met754fs	coding	Pathogenic
5	13899531	TAAAAACTATCTTGTACTTAAATGGGAACTACTGATTCCCTCCTGCTGCTCCAAATACACTAGTTTCGGTTTTCGCCATCTCCATAACTTGAACTTACAGTCAGGGCCCCTGCATGGTATTGTGCAAGTTATGAAGAATGCAACCTACACAGCATTCTACGGCACCCCTGCTTTAATTCATGGAACTGCTCACACCAAAACCACAGGTATTATTCCTGAGTTCTCTTATAACCTGACTGTTGACATAACTCTAAATTCTCCAAACAACTCTGCTGCCATCCCAGTTCAAGCTCTCATCTTCATCCTGGGCCAGTGCAACACTTCACAAACAGGCTTCCCGCTGATACCCCTCGTCCCTCTTAACATCCATTTTCCACCCAGCAGTAAGAATAACTTTTATTATAAAAAGAGATCGTGCCTTTTTCAGTGGCTCGAAATCCTCCAATGGTTTCCTGGTACACTCAAAATAAAACCCAAGCTTCTCATCTTGGCCTGCAAGACCTGTAACGGCCTGGCCCCAGCCAACTCTGCAGCTGCACCCCATGGCACTGTCCCCTCAGTCACTCCATTCATCCTGGCCACTTTCTGCTCCTTGAATATGACACATCACCATATTTTTTTATAATACATTCCAGAGCTAGCCAAGAATGGGGGGAAAAAATAAAAGTAGTATACCTTCATGTTA	T	A13899532C	DNAH5	NM_001369.2(DNAH5):c.2250_2259+674del	noncoding	Pathogenic
5	13900400	GAATTTCTTCAATCTGTGGGAAGAAACCAAC	G	A13900402T	DNAH5	NC_000005.10:g.13900401_13900430del	coding	Pathogenic
5	13901577	A	AT	A13901585T	DNAH5	NM_001369.2(DNAH5):c.1731-11dup	noncoding	Benign
5	13902060	AT	A	T13902063C	DNAH5	NM_001369.2(DNAH5):c.1722del:p.Lys574fs	coding	Pathogenic
5	13911390	AG	A	G13911392T	DNAH5	NM_001369.2(DNAH5):c.1639del:p.Leu547fs	coding	Pathogenic
5	13913761	G	GT	C13913763T	DNAH5	NM_001369.2(DNAH5):c.1517dup:p.Asp506fs	coding	Pathogenic
5	13913850	GAA	G	A13913853G	DNAH5	NM_001369.2(DNAH5):c.1427_1428del:p.Phe476fs	coding	Pathogenic/Likely_pathogenic
5	13913905	AT	A	T13913908G	DNAH5	NC_000005.10:g.13913908del	coding	Pathogenic
5	13919318	GC	G	C13919319T	DNAH5	NM_001369.2(DNAH5):c.832del:p.Ala278fs	coding	Pathogenic/Likely_pathogenic
5	13920483	TTCTG	T	C13920489T	DNAH5	NM_001369.2(DNAH5):c.787_790CAGA[1]:p.Thr264fs	coding	Pathogenic
5	13923291	TG	C	T13923291C	DNAH5	NC_000005.10:g.13923291_13923292delinsC	coding	Pathogenic
5	13931196	T	TCGCATCCAAAAGAGCC	T13931216A	DNAH5	NM_001369.2(DNAH5):c.90_105dup:p.Arg36fs	coding	Pathogenic
5	14280386	AC	A	C14280387G	TRIO	NM_007118.4(TRIO):c.298del:p.Arg100fs	coding	Pathogenic/Likely_pathogenic
5	14290823	CAG	C	A14290826T	TRIO	NM_007118.4(TRIO):c.651_652del:p.Arg217fs	coding	Pathogenic/Likely_pathogenic
5	14368871	CTG	C	G14368873C	TRIO	NM_007118.4(TRIO):c.3040_3041del:p.Val1014fs	coding	Pathogenic
5	14374272	AC	A	C14374274T	TRIO	NM_007118.4(TRIO):c.3262del:p.Leu1088fs	coding	Pathogenic
5	14387618	GA	G	A14387619T	TRIO	NM_007118.4(TRIO):c.3752del:p.Asp1251fs	coding	Pathogenic
5	14387769	TC	T	C14387772T	TRIO	NM_007118.4(TRIO):c.3806del:p.Pro1269fs	coding	Pathogenic
5	14398921	CA	C	A14398922G	TRIO	NM_007118.4(TRIO):c.4466del:p.Gln1489fs	coding	Pathogenic
5	14420021	G	GGT	A14420024G	TRIO	NM_007118.4(TRIO):c.5203+1_5203+2dup	coding	Pathogenic
5	14461088	TCGGGGCCCAG	T	C14461089A	TRIO	NM_007118.4(TRIO):c.5274_5283del:p.Gly1759fs	coding	Pathogenic
5	14487504	G	GGGC	A14487523G	TRIO	NM_007118.4(TRIO):c.6877_6879GGC[7]:p.Gly2298dup	coding	Benign
5	14487514	G	GGC	G14487518C	TRIO	NM_007118.4(TRIO):c.6888_6889dup:p.Gly2297fs	coding	Pathogenic
5	14487667	CA	C	A14487668C	TRIO	NM_007118.4(TRIO):c.7040del:p.His2347fs	coding	Pathogenic
5	14487705	C	CCAGG	A14487713G	TRIO	NM_007118.4(TRIO):c.7081_7084dup:p.Glu2362fs	coding	Pathogenic
5	14488084	TGGAGCTCCATCC	T	G14488085C	TRIO	NM_007118.4(TRIO):c.7457_7468del:p.Trp2486_Pro2490delinsSer	coding	Benign
5	14600951	TG	T	G14600952T	OTULINL	NM_019018.3(OTULINL):c.65-13del	noncoding	Benign
5	14687568	AC	A	C14687569T	OTULIN	NM_138348.6(OTULIN):c.517del:p.Gly174fs	coding	Pathogenic
5	14705915	GT	G	T14705917C	ANKH	NM_054027.6(ANKH):c.*5281del	noncoding	Benign
5	14707267	ACG	A	G14707269A	ANKH	NM_054027.6(ANKH):c.*3928_*3929del	noncoding	Benign
5	14707296	GA	G	A14707307C	ANKH	NM_054027.6(ANKH):c.*3900del	noncoding	Benign
5	14708895	A	AT	G14708910T	ANKH	NM_054027.6(ANKH):c.*2301dup	noncoding	Benign
5	14709303	A	AT	G14709306T	ANKH	NM_054027.6(ANKH):c.*1893dup	noncoding	Benign
5	14710254	G	GACTT	A14710260C	ANKH	NM_054027.6(ANKH):c.*939_*942dup	noncoding	Benign
5	14711205	TCTC	T	C14711209T	ANKH	NM_054027.6(ANKH):c.1465_1467GAG[1]:p.Glu490del	coding	Pathogenic
5	14716715	GGAA	G	A14716720G	ANKH	NM_054027.6(ANKH):c.1126_1128TTC[1]:p.Phe377del	coding	Pathogenic
5	14716720	AAGG	A	G14716723A	ANKH	NM_054027.6(ANKH):c.1124_1126del:p.Ser375del	coding	Pathogenic/Likely_pathogenic
5	14871511	AGGGGCGAC	A	C14871527G	ANKH	NM_054027.6(ANKH):c.-80_-73GTCGCCCC[1]	noncoding	Benign
5	16474285	G	GA	T16474295A	RETREG1	NM_001034850.2(RETREG1):c.*455dup	noncoding	Benign
5	16474669	C	CT	C16474686T	RETREG1	NM_001034850.2(RETREG1):c.*71dup	noncoding	Benign
5	16616930	G	GCATCCCTCCTCGGCGTGCTCCGGAGGCGCCGGGCTCGC	T16616973C	RETREG1	NM_001034850.2(RETREG1):c.4_41dup:p.Cys14fs	coding	Pathogenic
5	16616952	GGA	G	A16616954G	RETREG1	NM_001034850.2(RETREG1):c.18_19del:p.Pro7fs	coding	Pathogenic
5	33947257	AG	A	G33947260T	SLC45A2	NM_016180.5(SLC45A2):c.1273del:p.Leu425fs	coding	Pathogenic
5	33951588	CA	C	A33951590G	SLC45A2	NM_016180.5(SLC45A2):c.1121del:p.Leu374fs	coding	Pathogenic
5	33954406	TG	T	G33954407T	SLC45A2	NM_016180.5(SLC45A2):c.986del:p.Thr329fs	coding	Pathogenic
5	33963914	GAGA	G	G33963922C	SLC45A2	NM_016180.5(SLC45A2):c.656_658TCT[2]:p.Phe221del	coding	Pathogenic
5	33984319	CG	C	G33984320A	SLC45A2	NM_016180.5(SLC45A2):c.264del:p.Gly89fs	coding	Pathogenic/Likely_pathogenic
5	33984420	T	TA	C33984422A	SLC45A2	NM_016180.5(SLC45A2):c.163dup:p.Tyr55fs	coding	Pathogenic
5	34937529	TAAAAGAGTGCAGGCGCATCG	T	G34937534C	DNAJC21	NM_001012339.3(DNAJC21):c.647_666del:p.Arg216fs	coding	Pathogenic
5	34941180	AG	A	G34941182C	DNAJC21	NM_001012339.3(DNAJC21):c.982del:p.Ala328fs	coding	Pathogenic
5	35618008	TC	T	C35618010T	SPEF2	NM_024867.4(SPEF2):c.13del:p.Leu5fs	coding	Pathogenic
5	35704666	AG	A	G35704667T	SPEF2	NM_024867.4(SPEF2):c.2507+5del	noncoding	Pathogenic
5	35709015	TC	T	C35709017T	SPEF2	NM_024867.4(SPEF2):c.2735del:p.Pro912fs	coding	Pathogenic
5	35740173	AT	A	T35740177G	SPEF2	NM_024867.4(SPEF2):c.3240del:p.Phe1080fs	coding	Pathogenic
5	35779221	T	TA	G35779226A	SPEF2	NM_024867.4(SPEF2):c.4326dup:p.Val1443fs	coding	Pathogenic
5	35800088	GT	G	T35800089G	SPEF2	NM_024867.4(SPEF2):c.4952del:p.Val1651fs	coding	Pathogenic
5	35867313	CT	C	T35867314C	IL7R	NM_002185.5(IL7R):c.230del:p.Leu77fs	coding	Pathogenic
5	35867371	CAAAG	C	G35867375T	IL7R	NM_002185.5(IL7R):c.291_294del:p.Lys97fs	coding	Pathogenic
5	35867421	GAA	G	A35867424G	IL7R	NM_002185.5(IL7R):c.340_341del:p.Lys114fs	coding	Pathogenic
5	35867438	C	CA	T35867446A	IL7R	NM_002185.5(IL7R):c.361dup:p.Ile121fs	coding	Pathogenic
5	35871111	CTT	C	T35871113G	IL7R	NM_002185.5(IL7R):c.437_438del:p.Phe146fs	coding	Pathogenic
5	35874494	T	TC	T35874496C	IL7R	NM_002185.5(IL7R):c.753dup:p.Ser252fs	coding	Pathogenic
5	36687236	TGATGATA	T	T36687239C	SLC1A3	NM_004172.5(SLC1A3):c.*970_*976del	noncoding	Benign
5	36876937	CC	A	C36876937A	NIPBL	NM_133433.4(NIPBL):c.-321_-320delinsA	noncoding	Pathogenic
5	36953735	T	TG	C36953737G	NIPBL	NM_133433.4(NIPBL):c.40dup:p.Ala14fs	coding	Pathogenic
5	36953760	CGTAAGTTTGGTTAATTTATCTAATTTAAGTTCTACTGTGTGTTAACAATAATTTTTACAGTGACTGTTCTAAAAATTATTATAGGTTCTTTAAAACACATTTACAGAAATAGCAACTGAAACTGCCCTTTAAA	C	T36953762A	NIPBL	NM_133433.4(NIPBL):c.64+2_64+134del	coding	Pathogenic
5	36955491	TC	T	C36955493A	NIPBL	NM_133433.4(NIPBL):c.86del:p.Pro29fs	coding	Pathogenic
5	36955556	TG	T	G36955557A	NIPBL	NM_133433.4(NIPBL):c.150del:p.Asn51fs	coding	Pathogenic
5	36955575	TA	T	A36955576G	NIPBL	NM_133433.4(NIPBL):c.169del:p.Arg57fs	coding	Pathogenic
5	36955598	AG	A	G36955599C	NIPBL	NM_133433.4(NIPBL):c.192del:p.Gln64fs	coding	Pathogenic
5	36955618	C	CAG	G36955621A	NIPBL	NM_133433.4(NIPBL):c.212_213dup:p.Val72fs	coding	Pathogenic
5	36955632	TC	T	C36955633A	NIPBL	NM_133433.4(NIPBL):c.226del:p.His76fs	coding	Pathogenic
5	36958113	AG	A	G36958114A	NIPBL	NM_133433.4(NIPBL):c.241del:p.Asp81fs	coding	Pathogenic
5	36958159	T	TG	T36958160G	NIPBL	NM_133433.4(NIPBL):c.286_287insG:p.Leu96fs	coding	Pathogenic
5	36958180	A	AGTCC	T36958185G	NIPBL	NM_133433.4(NIPBL):c.308_311dup:p.Asn105fs	coding	Pathogenic
5	36958180	AGTCCTAAT	A	C36958183T	NIPBL	NM_133433.4(NIPBL):c.310_317del:p.Pro104fs	coding	Pathogenic
5	36958185	T	TA	T36958188A	NIPBL	NM_133433.4(NIPBL):c.314dup:p.Asn105fs	coding	Pathogenic
5	36961579	TC	T	C36961581A	NIPBL	NM_133433.4(NIPBL):c.456del:p.Ser153fs	coding	Pathogenic
5	36961583	G	GGT	A36961586G	NIPBL	NM_133433.4(NIPBL):c.458+1_458+2dup	coding	Pathogenic
5	36962255	AC	A	C36962256A	NIPBL	NM_133433.4(NIPBL):c.592del:p.His198fs	coding	Pathogenic
5	36975798	AC	A	C36975799A	NIPBL	NM_133433.4(NIPBL):c.892del:p.Gln298fs	coding	Pathogenic
5	36975834	T	ACA	T36975834A	NIPBL	NM_133433.4(NIPBL):c.927delinsACA:p.Asp309fs	coding	Pathogenic
5	36975903	CAAGGATGAAA	C	G36975907A	NIPBL	NM_133433.4(NIPBL):c.1000_1009del:p.Asp334fs	coding	Pathogenic
5	36975909	TG	T	G36975910A	NIPBL	NM_133433.4(NIPBL):c.1003del:p.Glu335fs	coding	Pathogenic
5	36975936	AATGT	A	T36975940A	NIPBL	NM_133433.4(NIPBL):c.1033_1036del:p.Tyr345fs	coding	Pathogenic
5	36975954	TTC	T	T36975957C	NIPBL	NM_133433.4(NIPBL):c.1048_1049TC[1]:p.Pro351fs	coding	Pathogenic
5	36975991	CTT	C	T36975993C	NIPBL	NM_133433.4(NIPBL):c.1086_1087del:p.Arg364fs	coding	Pathogenic
5	36976048	GA	G	A36976052T	NIPBL	NM_133433.4(NIPBL):c.1145del:p.Asn382fs	coding	Pathogenic
5	36976052	A	AT	A36976054T	NIPBL	NM_133433.4(NIPBL):c.1146dup:p.Ser383Ter	coding	Pathogenic
5	36976226	AC	A	C36976227A	NIPBL	NM_133433.4(NIPBL):c.1320del:p.Asn440fs	coding	Pathogenic
5	36976346	TAGAG	T	G36976352A	NIPBL	NM_133433.4(NIPBL):c.1441_1442GA[2]:p.Arg482fs	coding	Pathogenic
5	36976346	TAG	T	G36976354A	NIPBL	NM_133433.4(NIPBL):c.1441_1442GA[3]:p.Glu483fs	coding	Pathogenic
5	36976355	AA	CTCCCTT	A36976355C	NIPBL	NM_133433.4(NIPBL):c.1448_1449delinsCTCCCTT:p.Glu483fs	coding	Pathogenic
5	36976406	AAAT	A	A36976410C	NIPBL	NM_133433.4(NIPBL):c.1495+8_1495+10del	noncoding	Benign/Likely_benign
5	36984690	AAAAG	A	G36984694A	NIPBL	NM_133433.4(NIPBL):c.1514_1517del:p.Arg505fs	coding	Pathogenic
5	36984722	T	TG	T36984728G	NIPBL	NM_133433.4(NIPBL):c.1547dup:p.Ala517fs	coding	Pathogenic
5	36984932	TA	T	A36984933T	NIPBL	NM_133433.4(NIPBL):c.1753del:p.Ile585fs	coding	Pathogenic
5	36984980	TA	T	A36984988G	NIPBL	NM_133433.4(NIPBL):c.1808del:p.Lys603fs	coding	Pathogenic
5	36985122	ACAGAAGAACTTA	CTT	A36985122C	NIPBL	NM_133433.4(NIPBL):c.1942_1954delinsCTT:p.Thr648fs	coding	Pathogenic
5	36985133	T	TA	C36985137A	NIPBL	NM_133433.4(NIPBL):c.1956dup:p.Gln653fs	coding	Pathogenic
5	36985171	A	AC	G36985173C	NIPBL	NM_133433.4(NIPBL):c.1992dup:p.Glu665fs	coding	Pathogenic
5	36985222	CA	C	A36985226C	NIPBL	NM_133433.4(NIPBL):c.2046del:p.Lys682fs	coding	Pathogenic
5	36985284	AC	A	C36985288A	NIPBL	NM_133433.4(NIPBL):c.2108del:p.Pro703fs	coding	Pathogenic
5	36985284	ACC	A	C36985287A	NIPBL	NM_133433.4(NIPBL):c.2107_2108del:p.Pro703fs	coding	Pathogenic
5	36985297	AG	A	G36985300T	NIPBL	NM_133433.4(NIPBL):c.2120del:p.Gly707fs	coding	Pathogenic
5	36985306	GCC	CTCTCAA	G36985306C	NIPBL	NM_133433.4(NIPBL):c.2126_2128delinsCTCTCAA:p.Ser709fs	coding	Pathogenic
5	36985326	CAA	C	A36985329G	NIPBL	NM_133433.4(NIPBL):c.2149_2150del:p.Lys717fs	coding	Pathogenic
5	36985469	CA	C	A36985471T	NIPBL	NM_133433.4(NIPBL):c.2291del:p.Asn764fs	coding	Pathogenic
5	36985494	TC	T	C36985495T	NIPBL	NM_133433.4(NIPBL):c.2315del:p.Ser772fs	coding	Pathogenic
5	36985573	C	CTGAA	G36985578T	NIPBL	NM_133433.4(NIPBL):c.2394_2397dup:p.Ala800Ter	coding	Pathogenic
5	36985587	C	CAG	C36985593G	NIPBL	NM_133433.4(NIPBL):c.2411_2412dup:p.Pro805fs	coding	Pathogenic
5	36985640	TAAAC	T	C36985644A	NIPBL	NM_133433.4(NIPBL):c.2464_2467del:p.Gln822fs	coding	Pathogenic
5	36985643	AC	A	C36985644A	NIPBL	NM_133433.4(NIPBL):c.2464del:p.Gln822fs	coding	Pathogenic
5	36985658	CA	C	A36985659G	NIPBL	NM_133433.4(NIPBL):c.2479del:p.Arg827fs	coding	Pathogenic
5	36985658	CAG	C	A36985659G	NIPBL	NM_133433.4(NIPBL):c.2479_2480del:p.Arg827fs	coding	Pathogenic
5	36985772	T	TA	C36985776A	NIPBL	NM_133433.4(NIPBL):c.2595dup:p.Leu866fs	coding	Pathogenic
5	36985802	A	AG	A36985807G	NIPBL	NM_133433.4(NIPBL):c.2626dup:p.Asp876fs	coding	Pathogenic
5	36985890	AG	A	G36985891A	NIPBL	NM_133433.4(NIPBL):c.2711del:p.Arg904fs	coding	Pathogenic
5	36985952	CAA	C	A36985953G	NIPBL	NM_133433.4(NIPBL):c.2773_2774del:p.Lys925fs	coding	Pathogenic
5	36986081	CA	C	A36986083T	NIPBL	NM_133433.4(NIPBL):c.2903del:p.Asn968fs	coding	Pathogenic
5	36986139	G	GA	T36986146A	NIPBL	NM_133433.4(NIPBL):c.2965dup:p.Ile989fs	coding	Pathogenic
5	36986237	TAGAG	T	A36986240G	NIPBL	NM_133433.4(NIPBL):c.3058_3059AG[1]:p.Glu1021fs	coding	Pathogenic
5	36986262	C	CT	A36986265T	NIPBL	NM_133433.4(NIPBL):c.3084dup:p.Lys1029Ter	coding	Pathogenic
5	36995722	C	CT	A36995723T	NIPBL	NM_133433.4(NIPBL):c.3222_3223insT:p.Lys1075Ter	coding	Pathogenic
5	36995746	GC	G	C36995748A	NIPBL	NM_133433.4(NIPBL):c.3248del:p.Pro1083fs	coding	Pathogenic
5	36995752	AT	A	T36995753A	NIPBL	NM_133433.4(NIPBL):c.3253del:p.Tyr1085fs	coding	Pathogenic
5	36995763	TC	T	C36995764A	NIPBL	NM_133433.4(NIPBL):c.3264del:p.Ser1089fs	coding	Pathogenic
5	37000527	TTC	T	C37000529G	NIPBL	NM_133433.4(NIPBL):c.3461_3462del:p.Asp1153_Ser1154insTer	coding	Pathogenic
5	37000835	AAAAAG	A	G37000840A	NIPBL	NM_133433.4(NIPBL):c.3526_3530del:p.Glu1176fs	coding	Pathogenic
5	37000846	CAG	C	G37000848A	NIPBL	NM_133433.4(NIPBL):c.3534_3535del:p.Lys1179fs	coding	Pathogenic
5	37001028	CAAT	C	A37001030G	NIPBL	NM_133433.4(NIPBL):c.3616_3618del:p.Ile1206del	coding	Pathogenic
5	37002752	GTA	G	T37002755A	NIPBL	NM_133433.4(NIPBL):c.3758_3759del:p.Ile1253fs	coding	Pathogenic
5	37003277	CTG	C	T37003280A	NIPBL	NM_133433.4(NIPBL):c.3786_3787TG[1]:p.Val1263fs	coding	Pathogenic
5	37006365	TACTG	T	C37006367A	NIPBL	NM_133433.4(NIPBL):c.3866_3869del:p.Thr1289fs	coding	Pathogenic
5	37006394	AC	A	C37006396T	NIPBL	NM_133433.4(NIPBL):c.3895del:p.Ile1300fs	coding	Pathogenic
5	37007331	TTAAG	T	A37007333T	NIPBL	NM_133433.4(NIPBL):c.4098_4101del:p.Leu1366fs	coding	Pathogenic
5	37007373	CAG	C	A37007378T	NIPBL	NM_133433.4(NIPBL):c.4139_4140AG[2]:p.Arg1381fs	coding	Pathogenic
5	37008041	GAAAATGTCAGTGA	G	A37008043C	NIPBL	NM_133433.4(NIPBL):c.4275_4287del:p.Glu1425fs	coding	Pathogenic
5	37008048	TCAGTGAACTA	T	G37008053T	NIPBL	NM_133433.4(NIPBL):c.4285_4294del:p.Glu1429fs	coding	Pathogenic
5	37010067	AT	A	T37010075C	NIPBL	NM_133433.4(NIPBL):c.4422-12del	noncoding	Benign
5	37010176	T	TA	C37010178A	NIPBL	NM_133433.4(NIPBL):c.4512dup:p.Pro1505fs	coding	Pathogenic
5	37010193	G	GA	C37010195A	NIPBL	NM_133433.4(NIPBL):c.4529dup:p.Asp1510fs	coding	Pathogenic
5	37010194	ACT	A	C37010197A	NIPBL	NM_133433.4(NIPBL):c.4530_4531CT[1]:p.Asp1510_Ser1511insTer	coding	Pathogenic
5	37014701	A	ATCCTGTCAACTAACATG	T37014703C	NIPBL	NM_133433.4(NIPBL):c.4580_4581insCCTGTCAACTAACATGT:p.Thr1528fs	coding	Pathogenic
5	37014756	TC	T	C37014758T	NIPBL	NM_133433.4(NIPBL):c.4636del:p.Lys1548fs	coding	Pathogenic
5	37016056	TG	T	G37016057A	NIPBL	NM_133433.4(NIPBL):c.4663del:p.Glu1555fs	coding	Pathogenic
5	37016075	CTGTT	C	T37016078A	NIPBL	NM_133433.4(NIPBL):c.4684_4687del:p.Phe1562fs	coding	Pathogenic
5	37016077	GT	G	T37016080G	NIPBL	NM_133433.4(NIPBL):c.4686del:p.Phe1562fs	coding	Pathogenic
5	37016150	AGTTT	A	T37016154A	NIPBL	NM_133433.4(NIPBL):c.4760_4763del:p.Ser1586_Leu1587insTer	coding	Pathogenic
5	37017023	ATCAGT	A	T37017029A	NIPBL	NM_133433.4(NIPBL):c.4782_4786TCAGT[1]:p.Gln1595_Phe1596insTer	coding	Pathogenic
5	37017044	CAG	C	G37017048T	NIPBL	NM_133433.4(NIPBL):c.4804_4805GA[1]:p.Glu1602fs	coding	Pathogenic
5	37017057	AAG	A	A37017060T	NIPBL	NM_133433.4(NIPBL):c.4816_4817AG[1]:p.Arg1606fs	coding	Pathogenic
5	37017133	C	CA	G37017136A	NIPBL	NM_133433.4(NIPBL):c.4893dup:p.Gly1632fs	coding	Pathogenic
5	37019351	CATTGCTTG	C	G37019355A	NIPBL	NM_133433.4(NIPBL):c.4965_4972del:p.Asp1657fs	coding	Pathogenic
5	37019376	C	CACTG	G37019382C	NIPBL	NM_133433.4(NIPBL):c.4988_4991dup:p.Glu1664delinsAspTer	coding	Pathogenic
5	37020479	AGCCCAGT	A	C37020481G	NIPBL	NM_133433.4(NIPBL):c.5033_5039del:p.Ala1678fs	coding	Pathogenic
5	37020494	A	ATG	G37020495T	NIPBL	NM_133433.4(NIPBL):c.5046_5047insTG:p.Asp1683fs	coding	Pathogenic
5	37020616	GA	G	A37020622G	NIPBL	NM_133433.4(NIPBL):c.5174del:p.Lys1725fs	coding	Pathogenic
5	37020659	G	GT	A37020663T	NIPBL	NM_133433.4(NIPBL):c.5214dup:p.Ser1739Ter	coding	Pathogenic
5	37022108	TTGTC	T	T37022111A	NIPBL	NM_133433.4(NIPBL):c.5389_5392del:p.Ser1797fs	coding	Pathogenic
5	37024589	C	CT	G37024591T	NIPBL	NM_133433.4(NIPBL):c.5580dup:p.Gly1861fs	coding	Pathogenic
5	37024687	A	AT	C37024690T	NIPBL	NM_133433.4(NIPBL):c.5679dup:p.Arg1894fs	coding	Pathogenic
5	37026255	ACT	A	C37026258G	NIPBL	NM_133433.4(NIPBL):c.5737_5738CT[1]:p.Trp1914fs	coding	Pathogenic
5	37027378	C	CT	G37027380T	NIPBL	NM_133433.4(NIPBL):c.5829dup:p.Gly1944fs	coding	Pathogenic
5	37036347	G	GTATA	G37036369A	NIPBL	NM_133433.4(NIPBL):c.5863-31TA[12]	noncoding	Benign
5	37036347	GTA	G	A37036367G	NIPBL	NM_133433.4(NIPBL):c.5863-31TA[9]	noncoding	Benign
5	37036367	A	AATAT	T37036368A	NIPBL	NM_133433.4(NIPBL):c.5863-12_5863-11insATAT	noncoding	Benign
5	37036367	A	AAT	T37036368A	NIPBL	NM_133433.4(NIPBL):c.5863-12_5863-11insAT	noncoding	Benign
5	37038415	A	ATATG	T37038417A	NIPBL	NM_133433.4(NIPBL):c.5972-186_5972-185insATGT	noncoding	Benign
5	37038716	C	CT	A37038717T	NIPBL	NM_133433.4(NIPBL):c.6086_6087insT:p.Tyr2030fs	coding	Pathogenic
5	37044488	G	GT	A37044490T	NIPBL	NM_133433.4(NIPBL):c.6249+2dup	noncoding	Pathogenic
5	37044647	TTGTG	T	T37044650A	NIPBL	NM_133433.4(NIPBL):c.6262_6263TG[1]:p.His2087_Cys2088insTer	coding	Pathogenic
5	37044700	TTGTG	T	T37044703G	NIPBL	NM_133433.4(NIPBL):c.6315_6316TG[1]:p.Val2106fs	coding	Pathogenic
5	37045498	T	TCTAA	A37045504T	NIPBL	NM_133433.4(NIPBL):c.6401_6404dup:p.Pro2138fs	coding	Pathogenic
5	37048551	GAATCTAT	G	A37048553T	NIPBL	NM_133433.4(NIPBL):c.6641_6647del:p.Asn2214fs	coding	Pathogenic
5	37048555	CTA	C	T37048560A	NIPBL	NM_133433.4(NIPBL):c.6644_6645TA[2]:p.Tyr2216_Asn2217delinsTer	coding	Pathogenic
5	37048558	TATA	T	A37048565T	NIPBL	NM_133433.4(NIPBL):c.6647_6649ATA[2]:p.Asn2218del	coding	Pathogenic
5	37048613	T	TA	C37048620A	NIPBL	NM_133433.4(NIPBL):c.6707dup:p.Asn2236fs	coding	Pathogenic
5	37048622	TC	T	C37048624A	NIPBL	NM_133433.4(NIPBL):c.6712del:p.Gln2238fs	coding	Pathogenic
5	37049155	G	GT	C37049159T	NIPBL	NM_133433.4(NIPBL):c.6811dup:p.Ser2271fs	coding	Pathogenic
5	37051759	AT	A	T37051770A	NIPBL	NM_133433.4(NIPBL):c.6955-9del	noncoding	Benign
5	37051821	GC	G	C37051822T	NIPBL	NM_133433.4(NIPBL):c.6998del:p.Ala2333fs	coding	Pathogenic
5	37051834	AGG	A	G37051835C	NIPBL	NM_133433.4(NIPBL):c.7011_7012del:p.Lys2337fs	coding	Pathogenic
5	37052408	CA	C	A37052409G	NIPBL	NM_133433.4(NIPBL):c.7106del:p.Gln2369fs	coding	Pathogenic
5	37052499	TC	T	C37052501G	NIPBL	NM_133433.4(NIPBL):c.7198del:p.Arg2400fs	coding	Pathogenic
5	37057227	A	AG	C37057229G	NIPBL	NM_133433.4(NIPBL):c.7306dup:p.Ala2436fs	coding	Pathogenic
5	37057322	C	CT	A37057323T	NIPBL	NM_133433.4(NIPBL):c.7400_7401insT:p.Phe2468fs	coding	Pathogenic
5	37058913	AAG	A	G37058919A	NIPBL	NM_133433.4(NIPBL):c.7435_7436GA[2]:p.Arg2480fs	coding	Pathogenic
5	37058937	AG	A	G37058939A	NIPBL	NM_133433.4(NIPBL):c.7459del:p.Glu2487fs	coding	Pathogenic
5	37060853	GAAGTACTCTCCATCTGAATCTGCAA	G	C37060859T	NIPBL	NM_133433.4(NIPBL):c.7701_7725del:p.Ser2568fs	coding	Pathogenic
5	37060859	CT	C	T37060860C	NIPBL	NM_133433.4(NIPBL):c.7702del:p.Ser2568fs	coding	Pathogenic
5	37060905	A	AAAACAGG	G37060914A	NIPBL	NM_133433.4(NIPBL):c.7749_7755dup:p.Val2586fs	coding	Pathogenic
5	37060945	TC	T	C37060947T	NIPBL	NM_133433.4(NIPBL):c.7789del:p.Leu2597fs	coding	Pathogenic
5	37060963	C	CT	A37060965T	NIPBL	NM_133433.4(NIPBL):c.7806dup:p.Asn2603Ter	coding	Pathogenic
5	37060970	C	CA	T37060975A	NIPBL	NM_133433.4(NIPBL):c.7816dup:p.Ile2606fs	coding	Pathogenic
5	37060996	G	GTA	G37061001T	NIPBL	NM_133433.4(NIPBL):c.7839_7840TA[3]:p.Val2615Ter	coding	Pathogenic
5	37061007	CAG	C	A37061008T	NIPBL	NM_133433.4(NIPBL):c.7850_7851del:p.Gln2617fs	coding	Pathogenic
5	37061012	TC	T	C37061013T	NIPBL	NM_133433.4(NIPBL):c.7855del:p.Tyr2618_Leu2619insTer	coding	Pathogenic
5	37063787	TA	T	A37063788G	NIPBL	NM_133433.4(NIPBL):c.7861-2del	noncoding	Pathogenic
5	37063828	AGAAGAAGAAGGGGAGGTTTCAGCTAGCACAAATGCTCG	A	G37063832C	NIPBL	NM_133433.4(NIPBL):c.7903_7940del:p.Glu2635fs	coding	Pathogenic
5	37063837	A	AG	A37063842G	NIPBL	NM_133433.4(NIPBL):c.7912dup:p.Glu2638fs	coding	Pathogenic
5	37063841	G	GA	G37063843A	NIPBL	NM_133433.4(NIPBL):c.7913dup:p.Val2639fs	coding	Pathogenic
5	37063894	A	AG	A37063897G	NIPBL	NM_133433.4(NIPBL):c.7967dup:p.Gly2657fs	coding	Pathogenic
5	37064623	CCAAAGTA	C	T37064629A	NIPBL	NM_133433.4(NIPBL):c.8152_8158del:p.Tyr2718fs	coding	Pathogenic
5	37064641	CCACAAATTGCAAGAGTAGT	C	C37064642G	NIPBL	NM_133433.4(NIPBL):c.8165_8183del:p.Pro2722fs	coding	Pathogenic
5	37064748	C	CA	C37064752A	NIPBL;CPLANE1	NM_133433.4(NIPBL):c.8274dup:p.Leu2759fs	coding	Pathogenic
5	37064751	A	ACT	G37064754C	NIPBL	NM_133433.4(NIPBL):c.8275_8276dup:p.Val2760fs	coding	Pathogenic
5	37064751	ACTGGTGC	A	G37064754T	NIPBL	NM_133433.4(NIPBL):c.8277_8283del:p.Val2760fs	coding	Pathogenic
5	37064775	TAA	T	A37064777G	NIPBL	NM_133433.4(NIPBL):c.8300_8301del:p.Lys2767fs	coding	Pathogenic
5	37064807	CT	C	T37064808C	NIPBL	NM_133433.4(NIPBL):c.8331del:p.Ala2777_Leu2778insTer	coding	Pathogenic
5	37064819	CTAATAA	ATT	C37064819A	NIPBL	NM_133433.4(NIPBL):c.8342_8348delinsATT:p.Ala2781fs	coding	Pathogenic
5	37064967	CA	C	A37064976T	NIPBL	NM_133433.4(NIPBL):c.*84del	noncoding	Benign
5	37064967	C	CA	T37064977A	NIPBL	NM_133433.4(NIPBL):c.*84dup	noncoding	Benign/Likely_benign
5	37115020	C	CT	C37115027T	CPLANE1	NM_023073.3(CPLANE1):c.9177dup:p.Ala3060fs	coding	Pathogenic
5	37121653	T	TG	A37121655G	CPLANE1	NM_023073.3(CPLANE1):c.8986dup:p.Gln2996fs	coding	Pathogenic
5	37121716	GA	G	A37121717T	CPLANE1	NM_023073.3(CPLANE1):c.8923del:p.Ser2975fs	coding	Pathogenic
5	37122450	CT	C	T37122454G	CPLANE1	NM_023073.3(CPLANE1):c.8834del:p.Lys2945fs	coding	Pathogenic
5	37125314	GC	G	C37125316A	CPLANE1	NM_023073.3(CPLANE1):c.8725del:p.Ala2909fs	coding	Pathogenic
5	37138834	GGATGTA	AT	G37138834A	CPLANE1	NM_023073.3(CPLANE1):c.8510_8516delinsAT:p.Val2837fs	coding	Pathogenic
5	37139372	TA	T	A37139382T	CPLANE1	NM_023073.3(CPLANE1):c.8471-3del	noncoding	Benign/Likely_benign
5	37148216	G	GC	T37148217C	CPLANE1	NM_023073.3(CPLANE1):c.8263_8264insG:p.Thr2755fs	coding	Pathogenic
5	37148216	G	GT	G37148224T	CPLANE1	NM_023073.3(CPLANE1):c.8263dup:p.Thr2755fs	coding	Pathogenic
5	37148216	GT	G	T37148223G	CPLANE1	NM_023073.3(CPLANE1):c.8263del:p.Thr2755fs	coding	Pathogenic
5	37153961	GTC	G	T37153962C	CPLANE1	NM_023073.3(CPLANE1):c.7988_7989del:p.Gly2663fs	coding	Pathogenic
5	37157689	TGG	T	G37157693A	CPLANE1	NM_023073.3(CPLANE1):c.7936_7937del:p.Pro2646fs	coding	Pathogenic
5	37158348	GAA	G	A37158351T	CPLANE1	NM_001384732.1(CPLANE1):c.7691-5_7691-4del	noncoding	Pathogenic
5	37158449	TGTA	T	G37158450C	CPLANE1	NM_001384732.1(CPLANE1):c.7691-107_7691-105del	noncoding	Pathogenic
5	37168833	TG	T	G37168836T	CPLANE1	NM_023073.3(CPLANE1):c.7190del:p.Pro2397fs	coding	Pathogenic
5	37168944	CG	C	G37168946A	CPLANE1	NM_023073.3(CPLANE1):c.7079del:p.Pro2360fs	coding	Pathogenic
5	37170095	TG	T	G37170098C	CPLANE1	NM_023073.3(CPLANE1):c.6407del:p.Pro2136fs	coding	Pathogenic
5	37170232	GCA	G	C37170235G	CPLANE1	NM_023073.3(CPLANE1):c.6267_6268TG[1]:p.Val2090fs	coding	Pathogenic
5	37175786	T	TTTA	T37175789A	CPLANE1	NM_023073.3(CPLANE1):c.5978+122_5978+123insTAA	noncoding	Benign
5	37183290	A	AT	C37183296T	CPLANE1	NM_023073.3(CPLANE1):c.4890dup:p.Ser1631fs	coding	Pathogenic
5	37184871	T	TCCTA	G37184876C	CPLANE1	NM_023073.3(CPLANE1):c.4394_4397dup:p.Asp1467fs	coding	Pathogenic
5	37184954	CT	C	T37184956C	CPLANE1	NM_023073.3(CPLANE1):c.4314del:p.Glu1439fs	coding	Pathogenic
5	37185087	GAA	G	A37185090G	CPLANE1	NM_023073.3(CPLANE1):c.4190-10_4190-9del	noncoding	Benign/Likely_benign
5	37198736	AAT	A	T37198742C	CPLANE1	NM_023073.3(CPLANE1):c.3632_3633AT[2]:p.Leu1213fs	coding	Pathogenic
5	37198828	AT	A	T37198835C	CPLANE1	NM_023073.3(CPLANE1):c.3545del:p.Asn1182fs	coding	Pathogenic
5	37201689	CAG	C	A37201692T	CPLANE1	NM_023073.3(CPLANE1):c.3405_3406CT[1]:p.Ser1136fs	coding	Pathogenic
5	37201690	AG	A	G37201691A	CPLANE1	NM_023073.3(CPLANE1):c.3407del:p.Ser1136fs	coding	Pathogenic
5	37206215	C	CT	G37206216T	CPLANE1	NM_023073.3(CPLANE1):c.3130_3131insA:p.Arg1044fs	coding	Pathogenic
5	37213580	GA	G	A37213582G	CPLANE1	NM_023073.3(CPLANE1):c.2898del:p.Pro968fs	coding	Pathogenic
5	37224277	C	CT	C37224284T	CPLANE1	NM_023073.3(CPLANE1):c.2556dup:p.Ala853fs	coding	Pathogenic
5	37224608	CAG	C	A37224609G	CPLANE1	NM_023073.3(CPLANE1):c.2422_2423del:p.Leu808fs	coding	Pathogenic
5	37226717	GC	G	C37226718T	CPLANE1	NM_023073.3(CPLANE1):c.1877del:p.Ser626fs	coding	Pathogenic
5	37226775	TA	T	A37226783T	CPLANE1	NM_023073.3(CPLANE1):c.1819del:p.Tyr607fs	coding	Pathogenic/Likely_pathogenic
5	37226775	T	TA	T37226784A	CPLANE1	NM_023073.3(CPLANE1):c.1819dup:p.Tyr607fs	coding	Pathogenic
5	37227369	CA	C	A37227371G	CPLANE1	NM_023073.3(CPLANE1):c.1394del:p.Leu465fs	coding	Pathogenic
5	37227379	C	CCT	T37227382C	CPLANE1	NM_001384732.1(CPLANE1):c.1383_1384dup:p.Gly462fs	coding	Pathogenic
5	37227481	T	TAG	C37227483G	CPLANE1	NM_001384732.1(CPLANE1):c.1371+86_1371+87insTC	noncoding	Pathogenic
5	37238886	CTT	C	T37238887G	CPLANE1	NM_023073.3(CPLANE1):c.907_908del:p.Lys303fs	coding	Pathogenic
5	37244434	GA	G	A37244436C	CPLANE1	NM_023073.3(CPLANE1):c.510del:p.Leu171fs	coding	Pathogenic
5	37244434	G	GA	C37244437A	CPLANE1	NM_023073.3(CPLANE1):c.510dup:p.Leu171fs	coding	Pathogenic
5	37244451	AT	A	T37244452G	CPLANE1	NM_023073.3(CPLANE1):c.493del:p.Ile165fs	coding	Pathogenic
5	38476522	C	CT	A38476535T	LIFR	NM_001127671.2(LIFR):c.*5072dup	noncoding	Benign
5	38477954	CAA	C	A38477959T	LIFR	NM_001127671.2(LIFR):c.*3639_*3640del	noncoding	Benign
5	38489085	TA	T	A38489089C	LIFR	NM_001127671.2(LIFR):c.2327del:p.Val775_Leu776insTer	coding	Pathogenic
5	38493657	T	TA	G38493660A	LIFR	NM_001127671.2(LIFR):c.2013dup:p.Met672fs	coding	Pathogenic
5	38499528	T	TA	T38499532A	LIFR	NM_001127671.2(LIFR):c.1655dup:p.Leu552fs	coding	Pathogenic
5	38505919	TTAAC	T	C38505923A	LIFR	NM_001127671.2(LIFR):c.1273_1276del:p.Val425fs	coding	Pathogenic
5	38510698	T	TA	G38510700A	LIFR	NM_001127671.2(LIFR):c.756dup:p.Lys253Ter	coding	Pathogenic
5	38511872	C	CA	C38511874A	LIFR	NM_001127671.2(LIFR):c.653dup:p.Glu219fs	coding	Pathogenic
5	38511902	AT	A	T38511903C	LIFR	NM_001127671.2(LIFR):c.623del:p.Asp208fs	coding	Pathogenic
5	38523500	CCT	C	C38523501G	LIFR	NM_001127671.2(LIFR):c.478_479del:p.Arg160fs	coding	Pathogenic
5	38523572	TG	T	G38523574A	LIFR	NM_001127671.2(LIFR):c.407del:p.Pro136fs	coding	Pathogenic
5	38527134	AGTTT	A	G38527139T	LIFR	NM_001127671.2(LIFR):c.397+17_397+20del	noncoding	Benign
5	38528728	GT	G	T38528732C	LIFR	NM_001127671.2(LIFR):c.254del:p.Asn85fs	coding	Pathogenic
5	38528808	TGTTA	T	G38528813C	LIFR	NM_001127671.2(LIFR):c.167_170TAAC[1]:p.Asn58fs	coding	Pathogenic
5	38528849	G	GACACAC	G38528879C	LIFR	NM_001127671.2(LIFR):c.143-37GT[17]	noncoding	Benign
5	38528849	G	GAC	G38528879C	LIFR	NM_001127671.2(LIFR):c.143-37GT[15]	noncoding	Benign
5	38528850	A	AACAC	C38528851A	LIFR	NM_001127671.2(LIFR):c.143-11_143-10insGTGT	noncoding	Benign
5	38530624	CA	C	A38530627C	LIFR	NM_001127671.2(LIFR):c.23del:p.Cys7_Leu8insTer	coding	Pathogenic
5	39138664	CAT	C	A39138667G	FYB1	NM_001465.6(FYB1):c.1383_1384AT[1]:p.Thr461_Tyr462insTer	coding	Pathogenic
5	40936373	GA	G	A40936374T	C7	NM_000587.4(C7):c.317del:p.Asp106fs	coding	Pathogenic
5	40945260	TACGTCGACAGA	T	G40945263A	C7	NM_000587.4(C7):c.633_643del:p.Ser212fs	coding	Pathogenic
5	40972441	CAG	C	A40972444T	C7	NM_000587.4(C7):c.1922_1923AG[1]:p.His643fs	coding	Pathogenic
5	40979908	TG	T	G40979910T	C7	NM_000587.4(C7):c.2350+1del	coding	Pathogenic
5	41033829	C	CTATCTATT	C41033831A	MROH2B	NM_173489.5(MROH2B):c.2241+8_2241+9insAAATAGAT	noncoding	Benign
5	41158762	TC	T	C41158763A	C6	NM_000065.4(C6):c.1879del:p.Asp627fs	coding	Pathogenic
5	41201620	TG	T	G41201624C	C6	NM_000065.4(C6):c.237del:p.Ile80fs	coding	Pathogenic
5	42719966	T	TA	T42719967A	GHR	NM_000163.5(GHR):c.*542_*543insA	noncoding	Benign
5	43619030	AG	A	G43619031T	NNT	NM_182977.3(NNT):c.600-1del	noncoding	Pathogenic
5	43644616	TACTC	T	T43644619A	NNT	NM_182977.3(NNT):c.1107_1110del:p.Thr369_His370insTer	coding	Pathogenic
5	43644768	T	TG	T43644772G	NNT	NM_182977.3(NNT):c.1259dup:p.His421fs	coding	Pathogenic
5	45267081	T	TA	G45267083A	HCN1	NM_021072.4(HCN1):c.1783+7dup	noncoding	Benign
5	45695870	TCGCCGCCGC	T	G45695884A	HCN1	NM_021072.4(HCN1):c.203_205GCG[4]:p.Gly72_Gly74del	coding	Benign/Likely_benign
5	45695870	TCGCCGC	T	G45695887A	HCN1	NM_021072.4(HCN1):c.203_205GCG[5]:p.Gly73_Gly74del	coding	Benign/Likely_benign
5	45695884	GCCGCCGCCA	G	C45695900T	HCN1	NM_021072.4(HCN1):c.192_200TGGCGGCGG[1]:p.Gly72_Gly74del	coding	Benign
5	53091071	TAAC	T	C53091074G	ITGA2;MOCS2	NM_002203.4(ITGA2):c.*475_*477del	noncoding	Benign
5	53091357	C	CATTT	G53091360T	ITGA2;MOCS2	NM_002203.4(ITGA2):c.*760_*761insTTAT	noncoding	Benign/Likely_benign
5	53092624	TA	T	A53092640G	ITGA2;MOCS2	NM_002203.4(ITGA2):c.*2041del	noncoding	Benign
5	53093981	T	TAAAG	A53093985G	ITGA2;MOCS2	NM_002203.4(ITGA2):c.*3385_*3386insGAAA	noncoding	Benign
5	53094360	TAA	T	A53094362G	ITGA2;MOCS2	NM_002203.4(ITGA2):c.*3763_*3764del	noncoding	Benign/Likely_benign
5	53094642	TTAG	T	A53094647T	ITGA2;MOCS2	NM_002203.4(ITGA2):c.*4045_*4047AGT[1]	noncoding	Benign/Likely_benign
5	53098188	GC	G	C53098189A	ITGA2;MOCS2	NM_004531.5(MOCS2):c.*413del	noncoding	Benign/Likely_benign
5	53107109	T	TG	A53107117G	MOCS2	NM_004531.5(MOCS2):c.65dup:p.Leu23fs	coding	Pathogenic
5	53109714	GGCACAGCGGCACCATCCCGCCTA	G	C53109716G	MOCS2	NM_004531.5(MOCS2):c.-656_-634del	coding	Pathogenic
5	53646344	TG	T	G53646346A	NDUFS4	NM_002495.4(NDUFS4):c.291del:p.Lys96_Trp97insTer	coding	Pathogenic
5	53646578	TAA	T	A53646579G	NDUFS4	NM_002495.4(NDUFS4):c.350+174_350+175del	noncoding	Benign
5	53646695	T	TC	T53646702C	NDUFS4	NM_002495.4(NDUFS4):c.350+296dup	noncoding	Benign
5	53683151	CA	C	A53683155C	NDUFS4	NM_002495.4(NDUFS4):c.462del:p.Lys154fs	coding	Pathogenic
5	53683157	C	CCAAGT	C53683164A	NDUFS4	NM_002495.4(NDUFS4):c.466_470dup:p.Lys158fs	coding	Pathogenic
5	53683162	TCC	T	C53683163A	NDUFS4	NM_002495.4(NDUFS4):c.470_471del:p.Lys156_Ser157insTer	coding	Pathogenic
5	55226916	TC	T	C55226918G	MCIDAS	NM_001190787.2(MCIDAS):c.135del:p.Lys46fs	coding	Pathogenic
5	55231501	CG	C	G55231504T	CCNO	NM_021147.5(CCNO):c.926del:p.Pro309fs	coding	Pathogenic
5	55231530	GCCGCGAGACCCGCAGCATGCGGT	G	G55231535C	CCNO	NM_021147.5(CCNO):c.875_897del:p.Asp292fs	coding	Pathogenic
5	55231634	AC	A	C55231640G	CCNO	NM_021147.5(CCNO):c.793del:p.Val265fs	coding	Pathogenic
5	55231681	CT	C	T55231682G	CCNO	NM_021147.5(CCNO):c.746del:p.Gln249fs	coding	Pathogenic
5	55232389	A	AC	A55232394C	CCNO	NM_021147.5(CCNO):c.538dup:p.Val180fs	coding	Pathogenic
5	55232445	CAG	C	A55232448T	CCNO	NM_021147.5(CCNO):c.479_480CT[1]:p.Leu161fs	coding	Pathogenic
5	55232500	A	AC	G55232503C	CCNO	NM_021147.5(CCNO):c.427dup:p.Val143fs	coding	Pathogenic
5	55233221	GT	G	T55233222A	CCNO	NM_021147.5(CCNO):c.302del:p.Tyr101fs	coding	Pathogenic
5	55233255	A	ACGGGCTGGGC	C55233271T	CCNO	NM_021147.5(CCNO):c.259_268dup:p.Val90fs	coding	Pathogenic
5	55233256	C	CGGGCT	C55233266T	CCNO	NM_021147.5(CCNO):c.263_267dup:p.Val90fs	coding	Pathogenic
5	55233261	T	TGGGCC	A55233276C	CCNO	NM_021147.5(CCNO):c.253_257GGCCC[3]:p.Gln88fs	coding	Pathogenic
5	55233271	C	CGGGCA	G55233280C	CCNO	NM_021147.5(CCNO):c.248_252dup:p.Gly85fs	coding	Pathogenic
5	55233358	CG	C	G55233360A	CCNO	NM_021147.5(CCNO):c.165del:p.Gly56fs	coding	Pathogenic
5	56815806	TC	CT	T56815806C	MAP3K1	NM_005921.2(MAP3K1):c.233_234delinsCT:p.Leu78Pro	coding	Benign
5	56872014	AC	A	C56872016A	MAP3K1	NM_005921.2(MAP3K1):c.1408del:p.His470fs	coding	Pathogenic
5	56881823	GACACTTTGGATGGTCA	G	C56881827G	MAP3K1	NM_005921.2(MAP3K1):c.2627_2642del:p.Thr876fs	coding	Pathogenic
5	56882021	TCAA	T	A56882045G	MAP3K1	NM_005921.2(MAP3K1):c.2824_2826ACA[7]:p.Thr949del	coding	Benign
5	56882152	AACC	A	A56882153C	MAP3K1	NM_005921.2(MAP3K1):c.2953_2955del:p.Thr985del	coding	Benign
5	56888335	ATCATC	A	C56888337T	MAP3K1	NM_005921.2(MAP3K1):c.4369_4373del:p.His1457fs	coding	Pathogenic
5	58972010	AG	A	G58972011A	PDE4D	NM_001104631.2(PDE4D):c.*2653del	noncoding	Benign
5	58972882	TAATA	T	A58972887T	PDE4D	NM_001104631.2(PDE4D):c.*1774_*1777TATT[1]	noncoding	Benign
5	58973200	T	TTTAAC	T58973208A	PDE4D	NM_001104631.2(PDE4D):c.*1459_*1463dup	noncoding	Benign
5	58973788	T	TAAAG	C58973794A	PDE4D	NM_001104631.2(PDE4D):c.*872_*875dup	noncoding	Benign
5	58973846	G	GGAA	T58973851A	PDE4D	NM_001104631.2(PDE4D):c.*815_*817dup	noncoding	Benign
5	58989926	G	GA	T58989935A	PDE4D	NM_001104631.2(PDE4D):c.1288-15dup	noncoding	Benign/Likely_benign
5	60874685	T	TA	G60874698A	ERCC8	NM_000082.3(ERCC8):c.1123-14dup	noncoding	Benign
5	60899693	T	TTCTCA	C60899699T	ERCC8	NM_000082.3(ERCC8):c.647_651dup:p.Arg218Ter	coding	Pathogenic/Likely_pathogenic
5	60899694	TC	T	C60899695T	ERCC8	NM_000082.3(ERCC8):c.650del:p.Arg217fs	coding	Pathogenic
5	60902464	C	CAT	A60902468T	ERCC8	NM_000082.4(ERCC8):c.593_594dup:p.Asp199fs	coding	Pathogenic
5	60904823	A	AGACATATGAT	T60904837A	ERCC8	NM_000082.4(ERCC8):c.440_449dup:p.Pro151fs	coding	Pathogenic
5	60918265	TTGTAA	T	A60918270T	ERCC8	NM_000082.3(ERCC8):c.394_398del:p.Leu132fs	coding	Pathogenic
5	60918343	C	CCACT	G60918348C	ERCC8	NM_001290285.1(ERCC8):c.-61_-58dup	coding	Pathogenic
5	60918349	TAC	T	C60918351G	ERCC8	NM_001290285.1(ERCC8):c.-65_-64del	coding	Pathogenic
5	60918364	G	GT	A60918366T	ERCC8	NM_001290285.1(ERCC8):c.-79dup	coding	Pathogenic
5	60918367	TCT	CA	T60918367C	ERCC8	NM_001290285.1(ERCC8):c.-83_-81delinsTG	coding	Pathogenic
5	60928895	TG	T	G60928896T	ERCC8	NM_001007233.2(ERCC8):c.-252del	coding	Pathogenic
5	60945357	CA	C	A60945358T	NDUFAF2	NM_174889.5(NDUFAF2):c.103del:p.Ile35fs	coding	Pathogenic
5	61073327	TG	T	G61073328T	NDUFAF2	NM_174889.5(NDUFAF2):c.217+114del	noncoding	Benign
5	61152827	CAAATT	C	T61152831G	NDUFAF2	NM_174889.5(NDUFAF2):c.386_390del:p.Ile129fs	coding	Pathogenic
5	61332326	GGGCGGC	G	C61332341G	ZSWIM6	NM_020928.2(ZSWIM6):c.57_59CGG[4]:p.Gly25_Gly26del	coding	Benign
5	62365235	A	AT	C62365240T	KIF2A	NM_001098511.3(KIF2A):c.1468-4dup	noncoding	Benign
5	63962198	CT	C	T63962200C	HTR1A	NM_000524.3(HTR1A):c.-480del	noncoding	Pathogenic
5	64774723	CAT	C	T64774725G	CWC27	NM_005869.4(CWC27):c.77_78del:p.Ile26fs	coding	Pathogenic
5	64789014	TAGTC	T	T64789017G	CWC27	NM_005869.4(CWC27):c.666_669del:p.Ser222fs	coding	Pathogenic
5	64885498	C	CA	G64885507A	CWC27	NM_005869.4(CWC27):c.1002dup:p.Val335fs	coding	Pathogenic
5	64977135	A	AC	T64977139C	CWC27	NM_005869.4(CWC27):c.1156dup:p.Leu386fs	coding	Pathogenic/Likely_pathogenic
5	65792660	GT	G	T65792670C	NLN	NM_020726.5(NLN):c.1527+15del	noncoding	Benign
5	68226871	A	AG	A68226878G	PIK3R1	NM_181523.3(PIK3R1):c.202dup:p.Asp68fs	coding	Pathogenic
5	68292306	AT	A	T68292307G	PIK3R1	NM_181523.3(PIK3R1):c.965del:p.Met322fs	coding	Pathogenic
5	68293809	ATGAAGAATATACCCGCACATCCCAGG	A	A68293813G	PIK3R1	NM_181523.3(PIK3R1):c.1404_1425+4del	coding	Pathogenic
5	68293830	CCCAGG	C	C68293831T	PIK3R1	NM_181523.3(PIK3R1):c.1422_1425+1del	coding	Pathogenic
5	68293834	GGT	G	T68293836A	PIK3R1	NM_181523.3(PIK3R1):c.1425+2_1425+3del	coding	Pathogenic
5	68295287	C	CT	A68295290T	PIK3R1	NM_181523.3(PIK3R1):c.1710dup:p.Ile571fs	coding	Pathogenic
5	68296259	GAA	G	A68296262C	PIK3R1	NM_181523.3(PIK3R1):c.1906_1907del:p.Asn636fs	coding	Pathogenic
5	68296262	A	AC	A68296263C	PIK3R1	NM_181523.3(PIK3R1):c.1906_1907insC:p.Asn636fs	coding	Pathogenic
5	68296298	G	GT	C68296300T	PIK3R1	NM_181523.3(PIK3R1):c.1943dup:p.Arg649fs	coding	Pathogenic
5	69100937	T	TG	T69100947G	SLC30A5	NM_022902.5(SLC30A5):c.206+17dup	noncoding	Benign
5	69420182	CCA	C	A69420184C	MARVELD2	NM_001038603.3(MARVELD2):c.799_800del:p.Thr267fs	coding	Pathogenic
5	69432566	G	GA	G69432569A	MARVELD2	NM_001038603.3(MARVELD2):c.1224dup:p.Val409fs	coding	Pathogenic
5	69509259	AAATGGACCTCTCCTCCAGGAGTG	A	A69509261T	OCLN	NM_001205254.2(OCLN):c.171_193del:p.Lys57fs	coding	Pathogenic
5	69509601	T	TA	C69509603A	OCLN	NM_001205254.2(OCLN):c.512dup:p.Tyr171Ter	coding	Pathogenic
5	69534815	CAG	C	A69534818T	OCLN	NM_001205254.2(OCLN):c.1014_1015AG[1]:p.Glu339fs	coding	Pathogenic
5	70925150	A	AGGATTCCG	T70925159G	SMN1	NM_000344.3(SMN1):c.48_55dup:p.Val19fs	coding	Pathogenic
5	70938848	T	TCTGA	A70938854T	SMN1	NM_000344.3(SMN1):c.93_96dup:p.Ile33Ter	coding	Pathogenic/Likely_pathogenic
5	70942356	AGTGGAAAGTTG	A	T70942358G	SMN1	NM_000344.3(SMN1):c.274_284del11	noncoding	Pathogenic
5	70942480	TAGAG	T	A70942483G	SMN1	NM_022874.2(SMN1):c.397_398AG[1]:p.Glu134fs	coding	Pathogenic
5	70942751	AGT	A	T70942753A	SMN1	NM_000344.3(SMN1):c.510_511del:p.Ser170fs	coding	Pathogenic
5	70942824	TC	T	C70942827T	SMN1	NM_000344.3(SMN1):c.584del:p.Pro195fs	coding	Pathogenic
5	70946064	AGATAATTCCCCCACCACCTCCCATATGTCCAGATTCTCTTGATGATGCTGATGCTTTGGGAAGTATGTTAATTTCATGGTACATGAGTGGCTATCATACTGGCTATTATAT	A	A70946066G	SMN1	Single_allele	noncoding	Pathogenic
5	70946109	A	ATGCTGATGCTT	G70946123C	SMN1	NM_000344.3(SMN1):c.770_780dup:p.Gly261fs	coding	Pathogenic
5	70951919	ACTTCCTTTATTTTCCTTACAGGGTTTCAGACAAAATCAAAAAGAAGGAAGGTGCTCACATTCCTTAAATTAAGGAGTAAGTCTGCCAGCATT	A	C70951920A	SMN1	NM_000344.3(SMN1):c.835-21_*3+17del	noncoding	Pathogenic
5	71602568	CTG	C	T71602571A	MCCC2	NM_022132.5(MCCC2):c.447_448TG[1]:p.Val150fs	coding	Pathogenic
5	71602572	G	GA	C71602579A	MCCC2	NM_022132.5(MCCC2):c.456dup:p.Gln153fs	coding	Pathogenic
5	71602639	T	TC	A71602641C	MCCC2	NM_022132.5(MCCC2):c.511+7dup	noncoding	Benign
5	71604359	A	AT	C71604362T	MCCC2	NM_022132.5(MCCC2):c.517dup:p.Ser173fs	coding	Pathogenic
5	71604399	TC	T	C71604401A	MCCC2	NM_022132.5(MCCC2):c.557del:p.Pro186fs	coding	Pathogenic
5	71604424	AC	A	C71604425A	MCCC2	NM_022132.5(MCCC2):c.581del:p.Thr194fs	coding	Pathogenic
5	71626744	A	AC	T71626751C	MCCC2	NM_022132.5(MCCC2):c.735dup:p.Val247fs	coding	Pathogenic
5	71632119	AG	A	G71632121T	MCCC2	NC_000005.10:g.71632121del	noncoding	Pathogenic
5	71635028	CAG	C	G71635030A	MCCC2	NM_022132.5(MCCC2):c.891_892del:p.Lys298fs	coding	Pathogenic
5	71635231	C	CT	G71635235T	MCCC2	NM_022132.5(MCCC2):c.987dup:p.Asp330Ter	coding	Pathogenic
5	71640983	ATTG	A	G71640989T	MCCC2	NM_022132.5(MCCC2):c.1000-14_1000-12del	noncoding	Benign
5	71643847	AG	A	G71643849T	MCCC2	NM_022132.5(MCCC2):c.1103del:p.Gly368fs	coding	Pathogenic
5	71650106	TCA	T	C71650107G	MCCC2	NM_022132.5(MCCC2):c.1412_1413del:p.Ser471fs	coding	Pathogenic
5	72199460	T	TG	A72199462G	MAP1B	NM_005909.5(MAP1B):c.6106dup:p.Asp2036fs	coding	Pathogenic
5	72887228	CCTAAGTCCAGTTTGAATTATGTAAGTTGGCTTCTTACTACTATTAGGTACTAATAAGGCTAGGCTACTTTAAGG	C	C72887229A	TNPO1	NM_002270.3(TNPO1):c.1303+7_1303+80del	noncoding	Benign
5	74685138	GC	G	C74685139G	HEXB	NM_001292004.1(HEXB):c.-376-4189del	noncoding	Benign
5	74685323	ACT	A	C74685324G	HEXB	NM_000521.4(HEXB):c.64_65del:p.Leu22fs	coding	Pathogenic
5	74685335	GA	G	A74685336T	HEXB	NM_000521.4(HEXB):c.76del:p.Met26fs	coding	Pathogenic
5	74685373	AG	A	G74685375T	HEXB	NM_000521.4(HEXB):c.115del:p.Val39fs	coding	Pathogenic
5	74685429	TG	T	G74685431C	HEXB	NM_000521.4(HEXB):c.171del:p.Trp57fs	coding	Pathogenic
5	74685431	GCCCCT	CCCCC	G74685431C	HEXB	NM_000521.4(HEXB):c.171_176delinsCCCCC:p.Trp57fs	coding	Pathogenic
5	74685532	G	GCACC	T74685538A	HEXB	NM_000521.4(HEXB):c.274_277dup:p.Leu93fs	coding	Pathogenic
5	74685541	TG	T	G74685543A	HEXB	NM_000521.4(HEXB):c.283del:p.Glu95fs	coding	Pathogenic
5	74685557	AC	A	C74685558G	HEXB	NM_000521.4(HEXB):c.298del:p.Arg100fs	coding	Pathogenic/Likely_pathogenic
5	74693642	C	CTT	A74693646T	HEXB	NM_000521.4(HEXB):c.451_452dup:p.Leu151fs	coding	Pathogenic
5	74697004	CAATG	C	G74697008C	HEXB	NM_000521.4(HEXB):c.571_574del:p.Glu191fs	coding	Pathogenic
5	74697088	GATT	G	A74697092C	HEXB	NM_000521.4(HEXB):c.652_654ATT[1]:p.Ile219del	coding	Pathogenic
5	74713504	AG	A	G74713507A	HEXB	NC_000005.10:g.74713507del	noncoding	Pathogenic
5	74715459	CT	C	T74715462A	HEXB	NM_000521.4(HEXB):c.902-48del	noncoding	Benign
5	74715572	AT	A	T74715573A	HEXB	NM_000521.4(HEXB):c.965del:p.Ile322fs	coding	Pathogenic/Likely_pathogenic
5	74715613	A	AT	C74715619T	HEXB	NM_000521.4(HEXB):c.1010dup:p.Lys338fs	coding	Pathogenic
5	74715628	TAGTG	T	T74715631G	HEXB	NM_000521.4(HEXB):c.1023_1026del:p.Ser341fs	coding	Pathogenic/Likely_pathogenic
5	74715629	AGT	TCAAA	A74715629T	HEXB	NM_000521.4(HEXB):c.1021_1023delinsTCAAA:p.Glu342fs	coding	Pathogenic
5	74718354	TAAAGC	T	C74718359G	HEXB	NM_000521.4(HEXB):c.1234_1238AAAGC[1]:p.Lys414fs	coding	Pathogenic
5	74718846	A	AG	A74718849G	HEXB	NM_000521.4(HEXB):c.1294dup:p.Glu432fs	coding	Pathogenic
5	74718861	TCA	T	C74718864G	HEXB	NM_000521.4(HEXB):c.1310_1311del:p.Thr437fs	coding	Pathogenic
5	74720484	TATG	AA	T74720484A	HEXB	NM_000521.4(HEXB):c.1474_1477delinsAA:p.Tyr492fs	coding	Pathogenic
5	74720648	G	GGGCAAGTGCTGTT	T74720664C	HEXB	NM_000521.4(HEXB):c.1517_1529dup:p.Glu511fs	coding	Pathogenic
5	74720664	TGA	T	G74720669C	HEXB	NM_000521.4(HEXB):c.1531_1532GA[2]:p.Arg512fs	coding	Pathogenic/Likely_pathogenic
5	74726021	TACTCAA	T	A74726028T	GFM2	NM_032380.5(GFM2):c.1820_1825TTGAGT[1]:p.Phe609_Glu610del	coding	Benign
5	74746137	CT	C	T74746138C	GFM2	NM_032380.5(GFM2):c.636del:p.Glu213fs	coding	Pathogenic
5	75611679	GGGGCTGCTGCTCC	G	T75611690G	ANKDD1B	NM_001276713.1(ANKDD1B):c.56_68del:p.Leu19fs	coding	Benign
5	77211000	GC	G	C77211004G	PDE8B	NM_001349750.2(PDE8B):c.36+30518del	coding	Pathogenic
5	77427039	G	GA	C77427052A	PDE8B	NM_003719.4(PDE8B):c.*497dup	noncoding	Benign
5	77427401	TAA	T	A77427417G	PDE8B	NM_003719.4(PDE8B):c.*863_*864del	noncoding	Benign
5	78015515	ACAG	A	C78015519A	AP3B1	NM_003664.5(AP3B1):c.3020_3022CTG[1]:p.Ala1008del	coding	Benign/Likely_benign
5	78101011	TTTC	T	C78101014T	AP3B1	NM_003664.4(AP3B1):c.2409_2411del:p.Lys804del	coding	Benign/Likely_benign
5	78128155	CTCTA	C	C78128161T	AP3B1	NM_003664.4(AP3B1):c.1839_1842delTAGA	coding	Pathogenic
5	78129203	TA	T	A78129204C	AP3B1	NM_003664.4(AP3B1):c.1754del:p.Val585fs	coding	Pathogenic
5	78228244	T	TA	T78228254A	AP3B1	NM_003664.4(AP3B1):c.280-14dup	noncoding	Benign
5	78267546	GT	G	T78267549A	AP3B1	NM_003664.4(AP3B1):c.177del:p.Lys59fs	coding	Pathogenic
5	78780421	AG	A	G78780422T	ARSB	NM_000046.5(ARSB):c.1577del:p.Thr526fs	coding	Pathogenic
5	78781888	T	TA	T78781891A	ARSB	NM_000046.5(ARSB):c.1299dup:p.Arg434Ter	coding	Pathogenic
5	78839360	TG	T	G78839361A	ARSB	NM_000046.5(ARSB):c.1208del:p.Ser403fs	coding	Pathogenic
5	78884528	ATGGCCTGAGGAAGTCCTCTCCCCCTGGCCACTAAGGGACAGTCAATCAGCTGCTAACCCCAAACAGAGCTGTAACACCAAACAGAGGTTGAAAACCATTGCACTAGGTCATTCCACCCGTAAAAATAATACCTCCAATATATGCATATTTATTTATAAATTAGATTTATGTACAAGTCTACTAATATATTATGTGTCTTAAAAAACATATACTTTAAAAAGGATGAGATGAAATTAGATATTAATACAAATACAAGATTGAAATTTTCTTCCTGTACTCCAAGGGAACATCTTGCAACCTCTAAGGCATGTGCCTCCCAACCTTGGGGGCTATTGCTCTACACTGTGGGGGTTAAACAGGAAAAAGACCATCACGATTTCCAAATCTGAGTCTGGGTCCTGTTCCCTGATGTATCTTCTTCACATCAGCCAGCTCTATCTATCACAACATACTTTTTTGCCTTCCTGGCACTTATCACAACTGGCAGTCATCTTGCTCATCTGTGTGTTCATTTGTCCAACATCTTTCTCCCCCAACTAGAATACAGCTTCCTGAGAGGCAGGATCTTGACTGACTTGTTCATTCCTAATTTCTCAGCATCTAGAAGAAGGTATGGCACATAGTAGGTGCTTGTTAGATACTTGCTAATAAATGGAAATAAACATATCCCTAGTTCCTATTCCAGCTTTTTCCCTGCTGTTTTGTCCTCCATTCTTCCAGCAGACAACAGGACTAGTTCCCTGACCCCCTGCAGGAAGCTAACAATACCCTAGCCTACTTCTAAGCAAAACGTCGCAGCTTCAAAGACCTTCCATGGAGGGCGATGGGCTGAGGACAATCTTGTTCTTCACGTAAAACACAGGCCCACAATCTCAAATTTATAATTTAAAAATATATATACTTACAATGTCTCTAAAGGCACTTATTTTTCTTAAAAATCATGTATTTGTAAGCTGAACTATCATTTTAACACAAAAGCTATCATTCTTGCTCAATGGAGTCAGGCTGCTCTTGGAGTTTCTGTCCTGGGAGGAAAAAGGGCAGGGTGTAGGTACCTGATGGTTTTCCACACGTCGAAGCCATCCAGAGGCTTTGTGCCATTGGTGTGTCCCCTGGCCAGCTTCACGAGTGTTGGCAGCCAGTCAGAGATGTGGATGAGCTCCCGGTTCTTCACGCCCTTCTGCTTCAGCAAGGGGCTTGCCACAAAGCCCACCCCTCGGACGCCTCCTTCCCACAGGCTCCATTTTCTTCCTCGAAGGGGCCAGTTATTACCCCCTGCCAAAGTCTGCCCTCCGTTATCTGAAACACAGTAAGGTCTTGGCATGAGGATGATGTTAACTCTTAAATACATTTAAGAACAGAGACTGTATGTACATTGTTACTAAATGGTGCTTAAATAATAAAAAAAAAGAAAATTCCTTGCCTTTTCCCACCCTAAATTCCCTTTTCCCATTGACATAGCCTTTCATTATTCAGACATAAGTAAGGCCCAGTGTGATACATATCTACCTTTAAATCCTCCATGGAGAGAGCCACTGGAAAACAAGGCAGTCCCTCGATGATATGCGCTTTGGAGATCCCTAAGCTAAACAATCCACTAAACTTTAAATACACCTGTGTAACTTTGTATAGCATGGGAGAATGAGTCCATGGAAGCTGGGACCCTCTCCATGCATGAAGAGAAAACTAAGGGAATTTCACTTAGTGACTTAATGCTCCTTATAGGTGGAGACAAAAACTGACCTTTTTCTTTTCCTCTTGGAAAAAAAATTCTACAATTTAAACTGGAAAATGAATTAACACTCTACACTCTGGCAATAATATCTCTTTCTTAAGTGTGAAAGCTGAGTATTTCTCCAGTGGTTGATAAATGTCTCTGTAAACAGAACATTAGATGGAAAAATATAATTGTGAAAAAAATTTTTCCCCTCTTGACAGGATGGTGAAATAAAGTTTCATTATGCACAATACCAGGGAAGAGAAGGTTTCTCTTCCAAGACAACAGAAGGAATGGGAGATCTTGGCAAAGACAGGGTAGAAGCTACTAGAGTAACTGAAGTTAAGTATCTTCCCAGCCAAATGAGGGCTCAGAGTTAAGACATTAAAGTGGGCAGTAGAAAAGAAAAAGTGCCATTTCTTACATACTGGGGTTATAGAATCATACAAACTCCCAAAGTATCCACAGATTTAGGTGACTTTAGAGACACATTTTAAATAACACATATTTTGCATTAAACTTTAAAAAAAAAACCCACTATTACCCAAATGAGCCACATGAGGGCAGTATGACAGACCACCTGCTGTATAGAATGTTACATATAAAAATTTATTAAGAAATCAGAGATCTATCAAAGCTACAAGATGCATCTGGGAGGAAAGAGAATGAACACTTGTTAAGCACTGACTGCACTAGGAGTGACTCTGATTTTGCATTATCTCTCACAGAATCTGGGGTTGGCAGACCTGGAATAGAAGCCTGAGGCCAGACACTCACTAGCTGTGTGGCCAGGGGTGATATACCACCTCAGTTTCCTCGTCTTCATGTGGAAATAACAATCACTAATTGATTTAGTCCATTTTGTGTTGCTATAACAGAATACTGAGACTAGGTAATTTATAAAGAAAACAGGTTTATT	A	C78884533T	ARSB	NM_000046.5(ARSB):c.899-1337_1142+1055del	noncoding	Pathogenic
5	78885689	TC	T	C78885692G	ARSB	NM_000046.5(ARSB):c.1036del:p.Glu346fs	coding	Pathogenic
5	78955449	AG	A	G78955452A	ARSB	NM_000046.5(ARSB):c.743del:p.Pro248fs	coding	Pathogenic
5	78969006	CA	C	A78969009G	ARSB	NM_000046.5(ARSB):c.498del:p.Phe166fs	coding	Pathogenic
5	78969077	AC	A	C78969079A	ARSB	NM_000046.5(ARSB):c.427del:p.Val143fs	coding	Pathogenic
5	78969119	AG	A	G78969121A	ARSB	NM_000046.5(ARSB):c.385del:p.Leu129fs	coding	Pathogenic
5	78984789	TGGGGCGAGAAGCCGCCGGGACCCATAACTGGGTCGGCGGTCCGAGCCCCGCCTGCCAGCGCCCGCGGCCTCAAGGGCCGGGTAGGAGCGGCAGGGCGCCGGCGAAAGGCGGGGCGGGGGCGGCGCGGGCGGCGGGGGCGCCGCGTACCTGGTA	T	G78984791C	ARSB	NM_000046.5(ARSB):c.307_312+147del	noncoding	Pathogenic
5	78984974	GTGCAC	G	T78984975A	ARSB	NM_000046.5(ARSB):c.270_274del:p.Cys91fs	coding	Pathogenic
5	78984991	GT	G	T78984992A	ARSB	NM_000046.5(ARSB):c.257del:p.Tyr86fs	coding	Pathogenic
5	78985010	AC	A	C78985014G	ARSB	NM_000046.5(ARSB):c.238del:p.Val80fs	coding	Pathogenic
5	78985033	CAGGTGCGG	C	A78985034C	ARSB	NM_000046.5(ARSB):c.208_215del:p.Pro70fs	coding	Pathogenic
5	78985059	C	CT	G78985060T	ARSB	NM_000046.5(ARSB):c.189_190insA:p.Gly64fs	coding	Pathogenic
5	78985109	A	AGGTGGGGCGGCCGGCTG	C78985128G	ARSB	NM_000046.5(ARSB):c.123_139dup:p.Leu47fs	coding	Pathogenic
5	78985114	GGGCGGCCGGCTGGCCCC	G	G78985119C	ARSB	NM_000046.5(ARSB):c.118_134del:p.Gly40fs	coding	Pathogenic
5	78985125	TGGCCCCGG	T	G78985126C	ARSB	NM_000046.5(ARSB):c.116_123del:p.Ala39fs	coding	Pathogenic
5	78985127	GCCCCGGCGC	G	C78985130G	ARSB	NM_000046.5(ARSB):c.113_121del:p.Gly38_Gly40del	coding	Benign
5	78986086	C	CTG	A78986089T	ARSB	NM_000046.3(ARSB):c.-840_-839dupCA	noncoding	Benign
5	80177405	T	TG	A80177412G	SERINC5	NM_001174072.3(SERINC5):c.375-14dup	noncoding	Benign
5	80321231	AG	A	G80321233A	SPZ1	NM_032567.4(SPZ1):c.1018del:p.Glu340fs	coding	Benign
5	80654739	GA	G	A80654741G	MSH3	NM_002439.5(MSH3):c.14del:p.Lys5fs	coding	Pathogenic
5	80654870	AC	A	C80654873T	MSH3	NM_002439.5(MSH3):c.146del:p.Pro49fs	coding	Pathogenic
5	80654880	TGCAGCGGCTGCAGCGGCC	T	T80654889C	MSH3	NM_002439.5(MSH3):c.162_179del:p.Ala57_Ala62del	coding	Benign/Likely_benign
5	80654889	TGCAGCGGCC	T	G80654905C	MSH3	NM_002439.5(MSH3):c.169_177GCCGCAGCG[1]:p.Ala60_Ala62del	coding	Benign
5	80654905	G	GCCGCAGCGC	C80654917G	MSH3	NM_002439.5(MSH3):c.181_189dup:p.Ala61_Pro63dup	coding	Benign
5	80654908	GCAGCGCCCC	G	G80654922T	MSH3	NM_002439.5(MSH3):c.186_194GCCCCCAGC[1]:p.64_66PAP[1]	coding	Benign
5	80654908	G	GCAGCGCCCCCAGCGCCCCCAGCGCCCC	T80654931G	MSH3	NM_002439.5(MSH3):c.186_194GCCCCCAGC[5]:p.64_66PAP[5]	coding	Benign
5	80654908	G	GCAGCGCCCCCAGCGCCCC	T80654931G	MSH3	NM_002439.5(MSH3):c.186_194GCCCCCAGC[4]:p.64_66PAP[4]	coding	Benign
5	80654922	GCCCCCAGCT	G	C80654926G	DHFR	NM_000791.4(DHFR):c.-442_-434del	coding	Benign
5	80654932	C	CCCGCCTTCCCGCCCCAGCTG	G80654958T	MSH3	NM_002439.5(MSH3):c.211_230dup:p.His78fs	coding	Pathogenic
5	80656427	GAAGA	G	A80656433G	MSH3	NM_002439.5(MSH3):c.256_259AGAA[1]:p.Lys87fs	coding	Pathogenic
5	80656429	AG	A	G80656430A	MSH3	NM_002439.5(MSH3):c.257del:p.Arg86fs	coding	Pathogenic
5	80656464	T	TA	G80656470A	MSH3	NM_002439.5(MSH3):c.296dup:p.Lys100fs	coding	Pathogenic
5	80656470	GAAAGT	G	T80656475A	MSH3	NM_002439.5(MSH3):c.302_306del:p.Val101fs	coding	Pathogenic
5	80656475	TAAAG	T	A80656480T	MSH3	NM_002439.5(MSH3):c.303_306AAAG[1]:p.Lys103fs	coding	Pathogenic
5	80665242	CAG	C	G80665244A	MSH3	NM_002439.5(MSH3):c.460_461del:p.Glu154fs	coding	Pathogenic
5	80665296	AT	A	T80665297A	MSH3	NM_002439.5(MSH3):c.513del:p.Asp171fs	coding	Pathogenic
5	80670101	CA	C	A80670103C	MSH3	NM_002439.5(MSH3):c.586del:p.Thr196fs	coding	Pathogenic
5	80670111	TG	T	G80670112A	MSH3	NM_002439.5(MSH3):c.595del:p.Asp199fs	coding	Pathogenic
5	80670123	GT	G	T80670126G	MSH3	NM_002439.5(MSH3):c.609del:p.Phe203fs	coding	Pathogenic
5	80670220	CAA	C	A80670221T	MSH3	NM_002439.5(MSH3):c.704_705del:p.Gln235fs	coding	Pathogenic
5	80672235	AT	A	T80672241A	MSH3	NM_002439.5(MSH3):c.793-3del	noncoding	Benign
5	80672319	CTGTT	C	T80672324C	MSH3	NM_002439.5(MSH3):c.869_872TGTT[1]:p.Val292fs	coding	Pathogenic
5	80672756	CA	C	A80672759C	MSH3	NM_002439.5(MSH3):c.928del:p.Thr310fs	coding	Pathogenic
5	80672806	CTT	C	T80672809C	MSH3	NM_002439.5(MSH3):c.978_979del:p.Ser327fs	coding	Pathogenic
5	80672808	TTTCCCGG	T	T80672809A	MSH3	NM_002439.5(MSH3):c.978_984del:p.Phe326fs	coding	Pathogenic
5	80674989	AT	A	T80674990C	MSH3	NM_002439.5(MSH3):c.1035del:p.Pro346_Leu347insTer	coding	Pathogenic/Likely_pathogenic
5	80674994	CT	C	T80674995A	MSH3	NM_002439.5(MSH3):c.1040del:p.Leu347fs	coding	Pathogenic
5	80675014	T	TG	T80675016G	MSH3	NM_002439.5(MSH3):c.1060dup:p.Val354fs	coding	Pathogenic
5	80675041	T	TA	C80675043A	MSH3	NM_002439.5(MSH3):c.1087dup:p.Thr363fs	coding	Pathogenic
5	80675095	CA	C	A80675103G	MSH3	NM_002439.5(MSH3):c.1148del:p.Lys383fs	coding	Pathogenic
5	80675095	C	CA	G80675104A	MSH3	NM_002439.5(MSH3):c.1148dup:p.Asn385fs	coding	Pathogenic
5	80679048	TG	T	G80679049T	MSH3	NM_002439.5(MSH3):c.1296del:p.Leu432fs	coding	Pathogenic
5	80679060	CAG	C	A80679063G	MSH3	NM_002439.5(MSH3):c.1308_1309AG[1]:p.Glu437fs	coding	Pathogenic
5	80725528	TAC	T	C80725530G	MSH3	NM_002439.5(MSH3):c.1418_1419del:p.Thr473fs	coding	Pathogenic
5	80725528	T	TA	C80725530A	MSH3	NM_002439.5(MSH3):c.1417dup:p.Thr473fs	coding	Pathogenic
5	80725530	CAG	C	A80725533T	MSH3	NM_002439.5(MSH3):c.1419_1420AG[1]:p.Glu474fs	coding	Pathogenic
5	80725559	A	AT	C80725561T	MSH3	NM_002439.5(MSH3):c.1448dup:p.Lys484fs	coding	Pathogenic
5	80728842	GT	G	T80728846C	MSH3	NM_002439.5(MSH3):c.1454-5del	noncoding	Benign
5	80728895	A	ATTTG	C80728900T	MSH3	NM_002439.5(MSH3):c.1499_1502dup:p.Ser502fs	coding	Pathogenic
5	80728917	TA	T	A80728921T	MSH3	NM_002439.5(MSH3):c.1524del:p.Lys508fs	coding	Pathogenic
5	80728942	GG	C	G80728942C	MSH3	NM_002439.5(MSH3):c.1545_1546delinsC:p.Leu515fs	coding	Pathogenic
5	80728951	GCTCT	CCTA	G80728951C	MSH3	NM_002439.5(MSH3):c.1554_1558delinsCCTA:p.Met518fs	coding	Pathogenic
5	80741518	A	AT	A80741521T	MSH3	NM_002439.5(MSH3):c.1625dup:p.Leu542fs	coding	Pathogenic
5	80741535	TC	T	C80741537T	MSH3	NM_002439.5(MSH3):c.1642del:p.Leu548fs	coding	Pathogenic
5	80741542	G	GAA	T80741545A	MSH3	NM_002439.5(MSH3):c.1648_1649dup:p.Asn550fs	coding	Pathogenic
5	80744605	CTTAAA	C	A80744610G	MSH3	NM_002439.5(MSH3):c.1758_1762del:p.Leu587fs	coding	Pathogenic
5	80761534	CTT	C	T80761537C	MSH3	NM_002439.5(MSH3):c.1764-9_1764-8del	noncoding	Benign
5	80761551	TA	T	A80761554T	MSH3	NM_002439.5(MSH3):c.1772del:p.Asn591fs	coding	Pathogenic
5	80761655	CT	C	T80761656C	MSH3	NM_002439.5(MSH3):c.1874del:p.Leu625fs	coding	Pathogenic
5	80761676	AAA	T	A80761676T	MSH3	NM_002439.5(MSH3):c.1894_1896delinsT:p.Lys632fs	coding	Pathogenic
5	80761677	AA	T	A80761677T	MSH3	NM_002439.5(MSH3):c.1895_1896delinsT:p.Lys632fs	coding	Pathogenic
5	80767969	T	TTATA	C80767975A	MSH3	NM_002439.5(MSH3):c.1935_1936AT[4]:p.His647fs	coding	Pathogenic
5	80768853	ATTAT	A	T80768857A	MSH3	NM_002439.5(MSH3):c.2107_2110del:p.Phe703fs	coding	Pathogenic
5	80768885	T	TA	G80768892A	MSH3	NM_002439.5(MSH3):c.2141dup:p.Arg715fs	coding	Pathogenic
5	80768960	TA	T	A80768966T	MSH3	NM_002439.5(MSH3):c.2216del:p.Asn739fs	coding	Pathogenic
5	80768960	T	TA	T80768967A	MSH3	NM_002439.5(MSH3):c.2216dup:p.Asn739fs	coding	Pathogenic
5	80775737	CTGAT	C	A80775740G	MSH3	NM_002439.5(MSH3):c.2300_2303del:p.Asp767fs	coding	Pathogenic
5	80787629	AT	A	T80787633C	MSH3	NM_002439.5(MSH3):c.2504del:p.Phe835fs	coding	Pathogenic
5	80792836	GA	G	A80792837T	MSH3	NM_002439.5(MSH3):c.2648del:p.Asp883fs	coding	Pathogenic
5	80813591	CAGAG	C	A80813596T	MSH3	NM_002439.5(MSH3):c.2664_2665AG[2]:p.Glu889_Arg890insTer	coding	Pathogenic
5	80813591	CAG	C	A80813598T	MSH3	NM_002439.5(MSH3):c.2664_2665AG[3]:p.Arg890fs	coding	Pathogenic
5	80813622	CAT	C	A80813623G	MSH3	NM_002439.5(MSH3):c.2695_2696del:p.Met899fs	coding	Pathogenic
5	80813686	TC	T	C80813688T	MSH3	NM_002439.5(MSH3):c.2760del:p.Tyr921fs	coding	Pathogenic
5	80813730	CA	C	A80813731T	MSH3	NM_002439.5(MSH3):c.2803del:p.Ile935fs	coding	Pathogenic
5	80813731	AT	A	T80813735C	MSH3	NM_002439.5(MSH3):c.2807del:p.Phe936fs	coding	Pathogenic
5	80854180	AACTG	A	T80854187A	MSH3	NM_002439.5(MSH3):c.2867_2870TGAC[1]:p.Asp958fs	coding	Pathogenic
5	80854188	GAC	G	C80854192G	MSH3	NM_002439.5(MSH3):c.2874_2875CA[1]:p.Thr959fs	coding	Pathogenic
5	80854201	TA	T	A80854203T	MSH3	NM_002439.5(MSH3):c.2887del:p.Ile963fs	coding	Pathogenic
5	83104942	TC	T	C83104944A	XRCC4	NM_003401.5(XRCC4):c.25del:p.His9fs	coding	Pathogenic/Likely_pathogenic
5	83258543	AG	A	G83258544A	XRCC4	NM_003401.5(XRCC4):c.760del:p.Asp254fs	coding	Pathogenic
5	83581975	CT	C	T83581982A	VCAN	NM_004385.5(VCAN):c.*1548del	noncoding	Benign
5	84254221	T	TA	C84254231A	EDIL3	NM_005711.5(EDIL3):c.68-18dup	noncoding	Benign
5	87268711	CAG	C	A87268712G	RASA1	NM_002890.3(RASA1):c.261_262del:p.Gly89fs	coding	Pathogenic
5	87268747	CT	C	T87268748G	RASA1	NM_002890.3(RASA1):c.297del:p.Ala100fs	coding	Pathogenic
5	87268881	CCCCCTTTG	C	C87268882G	RASA1	NM_002890.3(RASA1):c.431_438del:p.Pro144fs	coding	Pathogenic
5	87268921	ACT	A	C87268926G	RASA1	NM_002890.3(RASA1):c.471_472CT[2]:p.Leu159fs	coding	Pathogenic
5	87331384	A	AGAAC	C87331390A	RASA1	NM_002890.3(RASA1):c.578_581dup:p.Leu195fs	coding	Pathogenic
5	87331416	GTTATC	G	C87331421A	RASA1	NM_002890.3(RASA1):c.613_617del:p.Leu205fs	coding	Pathogenic
5	87331425	TAAGA	T	A87331426G	RASA1	NM_002890.3(RASA1):c.618_621del:p.Ile206fs	coding	Pathogenic
5	87333244	CT	C	T87333255A	CCNH;RASA1	NM_002890.3(RASA1):c.829-12del	noncoding	Benign
5	87341293	C	CG	A87341297G	RASA1	NM_002890.3(RASA1):c.1024dup:p.Glu342fs	coding	Pathogenic
5	87341347	G	GA	T87341358A	CCNH;RASA1	NM_002890.3(RASA1):c.1049+36dup	noncoding	Benign
5	87349273	CTT	C	T87349275A	RASA1	NM_002890.3(RASA1):c.1164_1165del:p.Tyr389fs	coding	Pathogenic
5	87353158	A	AT	G87353161T	RASA1	NM_002890.3(RASA1):c.1257dup:p.Gly420fs	coding	Pathogenic
5	87362572	GAC	G	C87362576G	RASA1	NM_002890.3(RASA1):c.1356_1357CA[1]:p.Thr453fs	coding	Pathogenic
5	87363330	AT	A	T87363341A	RASA1	NM_002890.3(RASA1):c.1454-7del	noncoding	Benign
5	87363384	TAGAG	T	A87363385G	RASA1	NM_002890.3(RASA1):c.1491_1494del:p.Glu498fs	coding	Pathogenic
5	87363406	T	TAA	T87363408A	RASA1	NM_002890.2(RASA1):c.1513A[3](p.Ile505Lysfs	coding	Pathogenic
5	87363469	TTCTG	T	G87363473A	RASA1	NM_002890.3(RASA1):c.1579_1582del:p.Val527fs	coding	Pathogenic
5	87374148	T	TA	T87374149A	RASA1	NM_002890.3(RASA1):c.1777-15_1777-14insA	noncoding	Benign
5	87374181	C	GTAAA	C87374181G	RASA1	NM_002890.3(RASA1):c.1795delinsGTAAA:p.His599fs	coding	Pathogenic
5	87376472	A	AT	A87376475T	RASA1	NM_002890.3(RASA1):c.2093dup:p.Leu698fs	coding	Pathogenic
5	87376574	T	TGTTAAA	T87376575G	RASA1	NM_002890.3(RASA1):c.2184+9_2184+10insGTTAAA	noncoding	Benign
5	87376947	C	CTACT	G87376952T	RASA1	NM_002890.3(RASA1):c.2252_2255dup:p.Ala753fs	coding	Pathogenic
5	87377028	A	AT	A87377030T	RASA1	NM_002890.3(RASA1):c.2333dup:p.Ser779fs	coding	Pathogenic
5	87378452	T	TA	T87378454A	RASA1	NM_002890.3(RASA1):c.2402dup:p.Tyr801Ter	coding	Pathogenic
5	87378493	GAA	G	A87378495G	RASA1	NM_002890.3(RASA1):c.2444_2445del:p.Lys815fs	coding	Pathogenic
5	87378498	ACT	A	C87378501A	RASA1	NM_002890.3(RASA1):c.2448_2449CT[1]:p.Ser817fs	coding	Pathogenic
5	87378501	C	CT	A87378503T	RASA1	NM_002890.3(RASA1):c.2451dup:p.Ile818fs	coding	Pathogenic
5	87379775	C	CT	A87379777T	RASA1	NM_002890.3(RASA1):c.2529dup:p.Asn844Ter	coding	Pathogenic
5	87379801	C	CT	C87379805T	RASA1	NM_002890.3(RASA1):c.2557dup:p.Ser853fs	coding	Pathogenic
5	87383678	TA	T	A87383696T	CCNH;RASA1	NM_002890.3(RASA1):c.2691-17del	noncoding	Benign
5	87383716	TTTTG	T	G87383720T	RASA1	NM_002890.3(RASA1):c.2698_2701del:p.Val900fs	coding	Pathogenic
5	87385339	GTGGCTAA	G	T87385340A	RASA1	NM_002890.3(RASA1):c.2798_2804del:p.Val933fs	coding	Pathogenic
5	87385347	A	ATT	C87385349T	RASA1	NM_002890.3(RASA1):c.2806_2807insTT:p.Ser936fs	coding	Pathogenic
5	87385349	CTG	C	T87385352C	RASA1	NM_002890.3(RASA1):c.2810_2811del:p.Val937fs	coding	Pathogenic
5	87386841	GGT	G	G87386844C	RASA1	NM_002890.3(RASA1):c.2864_2865GT[1]:p.Val956fs	coding	Pathogenic
5	87386849	TC	T	C87386851A	RASA1	NM_002890.3(RASA1):c.2873del:p.Pro958fs	coding	Pathogenic
5	87386886	T	TTTTTA	G87386892T	RASA1	NM_002890.3(RASA1):c.2909_2913dup:p.Asp972delinsPheTer	coding	Pathogenic
5	87389484	CA	C	A87389485G	RASA1	NM_002890.3(RASA1):c.3018del:p.Asp1007fs	coding	Pathogenic
5	88720336	A	AT	A88720349T	MEF2C	NM_002397.5(MEF2C):c.*2267dup	noncoding	Benign
5	88728604	AG	A	G88728606T	MEF2C	NM_002397.5(MEF2C):c.988del:p.Leu330fs	coding	Pathogenic
5	88729255	T	TC	A88729259C	MEF2C	NM_002397.5(MEF2C):c.926dup:p.Gly310fs	coding	Pathogenic
5	88729273	T	TA	G88729277A	MEF2C	NM_002397.5(MEF2C):c.908dup:p.Leu303fs	coding	Pathogenic
5	88730211	CA	C	A88730215G	MEF2C	NM_002397.5(MEF2C):c.833del:p.Leu277_Leu278insTer	coding	Pathogenic
5	88731758	G	GT	G88731760T	MEF2C	NM_002397.5(MEF2C):c.780dup:p.Pro261fs	coding	Pathogenic
5	88731810	TG	T	G88731815A	MEF2C	NM_002397.5(MEF2C):c.728del:p.Pro243fs	coding	Pathogenic
5	88749081	CCTGCACCAGACG	GTGGAGAC	C88749081G	MEF2C	NM_002397.5(MEF2C):c.614_626delinsGTCTCCAC:p.Thr205fs	coding	Pathogenic
5	88751878	G	GTC	G88751881T	MEF2C	NM_002397.5(MEF2C):c.566_567dup:p.Pro190fs	coding	Pathogenic
5	88751987	GT	G	T88751989G	MEF2C	NM_002397.5(MEF2C):c.458del:p.Asn153fs	coding	Pathogenic
5	88804641	TA	T	A88804642C	MEF2C	NM_002397.5(MEF2C):c.214del:p.Tyr72fs	coding	Pathogenic
5	88804663	C	CT	G88804667T	MEF2C	NM_002397.5(MEF2C):c.192dup:p.Val65fs	coding	Pathogenic
5	88804731	TCA	T	C88804734G	MEF2C	NM_002397.5(MEF2C):c.121_122TG[1]:p.Cys41_Glu42delinsTer	coding	Pathogenic
5	88823734	CCTGT	C	C88823739T	MEF2C	NM_002397.5(MEF2C):c.47_50ACAG[1]:p.Arg17_Gln18insTer	coding	Pathogenic
5	88823743	T	TA	C88823745A	MEF2C	NM_002397.5(MEF2C):c.45dup:p.Asn16Ter	coding	Pathogenic
5	88824262	C	CCT	G88824263C	MEF2C	NM_002397.5(MEF2C):c.-142-333_-142-332insAG	noncoding	Benign
5	90625197	CT	C	T90625198G	ADGRV1	NM_032119.4(ADGRV1):c.627del:p.Gly210fs	coding	Pathogenic
5	90627490	C	CA	T90627495A	ADGRV1	NM_032119.4(ADGRV1):c.956dup:p.Asn319fs	coding	Pathogenic
5	90627492	A	AAATC	T90627497A	ADGRV1	NM_032119.4(ADGRV1):c.955_958dup:p.Leu320fs	coding	Pathogenic
5	90627583	G	GAC	C90627588A	ADGRV1	NM_032119.4(ADGRV1):c.1048_1049dup:p.Ile351fs	coding	Pathogenic
5	90627715	CT	C	T90627718C	ADGRV1	NM_032119.4(ADGRV1):c.1180del:p.Ser394fs	coding	Pathogenic/Likely_pathogenic
5	90629397	AC	A	C90629401T	ADGRV1	NM_032119.4(ADGRV1):c.1701del:p.Leu568fs	coding	Pathogenic
5	90637824	G	TT	G90637824T	ADGRV1	NM_032119.4(ADGRV1):c.2116delinsTT:p.Asp706fs	coding	Pathogenic
5	90642651	CCAAGTGCTGAAAT	C	A90642653T	ADGRV1	NM_032119.4(ADGRV1):c.2258_2270del:p.Gln753fs	coding	Pathogenic
5	90644835	C	CA	T90644842A	ADGRV1	NM_032119.4(ADGRV1):c.2870dup:p.Asn957fs	coding	Pathogenic
5	90647606	AG	A	G90647608C	ADGRV1	NM_032119.4(ADGRV1):c.3133del:p.Ala1045fs	coding	Pathogenic
5	90647668	G	GT	G90647671T	ADGRV1	NM_032119.4(ADGRV1):c.3195dup:p.Gly1066fs	coding	Pathogenic
5	90647954	TG	T	G90647955A	ADGRV1	NM_032119.4(ADGRV1):c.3289+191del	noncoding	Benign
5	90653687	TATAG	T	A90653688C	ADGRV1	NM_032119.4(ADGRV1):c.4114_4117del:p.Ile1372fs	coding	Pathogenic
5	90653822	GA	G	A90653825T	ADGRV1	NM_032119.4(ADGRV1):c.4251del:p.Lys1417fs	coding	Pathogenic
5	90658222	CA	C	A90658228G	ADGRV1	NM_032119.4(ADGRV1):c.4702del:p.Ser1568fs	coding	Pathogenic
5	90676121	TAA	T	A90676123T	ADGRV1	NM_032119.4(ADGRV1):c.5357_5358del:p.Lys1786fs	coding	Pathogenic
5	90681430	TG	T	G90681433T	ADGRV1	NM_032119.4(ADGRV1):c.5643del:p.Tyr1882fs	coding	Pathogenic
5	90683697	C	CAGACG	C90683705A	ADGRV1	NM_032119.4(ADGRV1):c.5779_5783dup:p.Ser1928fs	coding	Pathogenic
5	90683885	T	TA	G90683889A	ADGRV1	NM_032119.4(ADGRV1):c.5967dup:p.Val1990fs	coding	Pathogenic/Likely_pathogenic
5	90690876	TGGGA	CGGTGG	T90690876C	ADGRV1	NM_032119.4(ADGRV1):c.6786_6790delinsCGGTGG:p.Thr2264fs	coding	Pathogenic
5	90692613	AGT	A	T90692615C	ADGRV1	NM_032119.4(ADGRV1):c.6962_6963del:p.Val2321fs	coding	Pathogenic
5	90694129	CTG	C	T90694130A	ADGRV1	NM_032119.4(ADGRV1):c.7374_7375del:p.Glu2459fs	coding	Pathogenic
5	90703710	GA	G	A90703713T	ADGRV1	NM_032119.4(ADGRV1):c.8204del:p.Asn2735fs	coding	Pathogenic
5	90706376	C	CAACA	T90706381A	ADGRV1	NM_032119.4(ADGRV1):c.8713_8716dup:p.Ile2906fs	coding	Pathogenic
5	90706404	T	TC	T90706405C	ADGRV1	NM_032119.4(ADGRV1):c.8730+10_8730+11insC	noncoding	Benign/Likely_benign
5	90708821	TG	T	G90708822T	ADGRV1	NM_032119.4(ADGRV1):c.8737del:p.Val2913fs	coding	Pathogenic
5	90708873	AC	A	C90708875A	ADGRV1	NM_032119.4(ADGRV1):c.8790del:p.Met2931fs	coding	Pathogenic
5	90712421	T	TA	C90712423A	ADGRV1	NM_032119.4(ADGRV1):c.9178dup:p.Thr3060fs	coding	Pathogenic
5	90724937	G	GA	T90724942A	ADGRV1	NM_032119.4(ADGRV1):c.9858dup:p.Ser3287fs	coding	Pathogenic
5	90725550	TACAA	T	A90725555T	ADGRV1	NM_032119.4(ADGRV1):c.10056_10059ACAA[1]:p.Thr3354fs	coding	Pathogenic
5	90725579	CAAGT	C	T90725583A	ADGRV1	NM_032119.4(ADGRV1):c.10088_10091del:p.Val3363fs	coding	Pathogenic
5	90729686	TCTTC	T	C90729691A	ADGRV1	NM_032119.4(ADGRV1):c.10472_10475CTTC[1]:p.Phe3493fs	coding	Pathogenic
5	90745202	TG	T	G90745205A	ADGRV1	NM_032119.4(ADGRV1):c.10709del:p.Gly3570fs	coding	Pathogenic
5	90745231	GCC	G	C90745232T	ADGRV1	NM_032119.4(ADGRV1):c.10736_10737del:p.Ala3579fs	coding	Pathogenic/Likely_pathogenic
5	90755127	CA	C	A90755129T	ADGRV1	NM_032119.4(ADGRV1):c.11524del:p.Thr3841_Ile3842insTer	coding	Pathogenic
5	90756446	T	TC	A90756452C	ADGRV1	NM_032119.4(ADGRV1):c.11581-3dup	noncoding	Benign
5	90756991	GT	G	T90756993A	ADGRV1	NM_032119.4(ADGRV1):c.11772del:p.Ile3925fs	coding	Pathogenic
5	90763308	AT	A	T90763309G	ADGRV1	NM_032119.4(ADGRV1):c.12125del:p.Met4042fs	coding	Pathogenic
5	90763381	GAAAAGGAACCGT	TGGGA	G90763381T	ADGRV1	NM_032119.4(ADGRV1):c.12197_12209delinsTGGGA:p.Gly4066fs	coding	Pathogenic
5	90774267	A	AT	A90774269T	ADGRV1	NM_032119.4(ADGRV1):c.12368dup:p.Ser4124fs	coding	Pathogenic
5	90778431	TG	T	G90778432A	ADGRV1	NM_032119.4(ADGRV1):c.12672del:p.Asn4225fs	coding	Pathogenic
5	90778451	G	GA	G90778458A	ADGRV1	NM_032119.4(ADGRV1):c.12697dup:p.Ser4233fs	coding	Pathogenic/Likely_pathogenic
5	90782855	C	CAG	G90782858A	ADGRV1	NM_032119.4(ADGRV1):c.13232-268_13232-267dup	noncoding	Benign
5	90783939	CT	C	T90783940C	ADGRV1	NM_032119.4(ADGRV1):c.13536del:p.Phe4514fs	coding	Pathogenic
5	90784025	G	GA	G90784027A	ADGRV1	NM_032119.4(ADGRV1):c.13622dup:p.Arg4542fs	coding	Pathogenic
5	90788071	G	GT	G90788073T	ADGRV1	NM_032119.4(ADGRV1):c.13655dup:p.Asn4553fs	coding	Pathogenic
5	90791294	T	TG	T90791297G	ADGRV1	NM_032119.4(ADGRV1):c.14467dup:p.Val4823fs	coding	Pathogenic
5	90802856	GTC	G	C90802860G	ADGRV1	NM_032119.4(ADGRV1):c.14637_14638CT[1]:p.Val4879_Ser4880insTer	coding	Pathogenic
5	90807697	TC	T	C90807698A	ADGRV1	NM_032119.4(ADGRV1):c.14933del:p.Leu4977_Ser4978insTer	coding	Pathogenic
5	90810351	TTTGGG	T	G90810354C	ADGRV1	NM_032119.4(ADGRV1):c.15094_15098del:p.Gly5032fs	coding	Pathogenic
5	90810752	CA	C	A90810754G	ADGRV1	NM_032119.4(ADGRV1):c.15494del:p.Lys5165fs	coding	Pathogenic
5	90811243	TC	T	C90811244T	ADGRV1	NM_032119.4(ADGRV1):c.15984del:p.Tyr5329fs	coding	Pathogenic
5	90815662	CCA	C	C90815663G	ADGRV1	NM_032119.4(ADGRV1):c.16123_16124del:p.Gln5375fs	coding	Pathogenic
5	90829009	CA	C	A90829011C	ADGRV1	NM_032119.4(ADGRV1):c.16436del:p.Asn5479fs	coding	Pathogenic/Likely_pathogenic
5	90840768	AC	A	C90840771A	ADGRV1	NM_032119.4(ADGRV1):c.16805del:p.Pro5602fs	coding	Pathogenic
5	90848753	TG	T	G90848754C	ADGRV1	NM_032119.4(ADGRV1):c.17137del:p.Ala5713fs	coding	Pathogenic
5	90853380	AGGAGATTACATTC	A	G90853382A	ADGRV1	NM_032119.4(ADGRV1):c.17303_17315del:p.Gly5768fs	coding	Pathogenic/Likely_pathogenic
5	90855806	GT	G	T90855808C	ADGRV1	NM_032119.4(ADGRV1):c.17662del:p.Ser5888fs	coding	Pathogenic
5	90855813	CAT	C	A90855814G	ADGRV1	NM_032119.4(ADGRV1):c.17668_17669del:p.Met5890fs	coding	Pathogenic
5	91102200	C	CT	A91102211T	ADGRV1	NM_032119.4(ADGRV1):c.18311-9dup	noncoding	Benign
5	91150009	CT	C	T91150025G	ADGRV1	NM_032119.4(ADGRV1):c.18433-5del	noncoding	Benign
5	91150012	T	TTC	T91150014C	ADGRV1	NM_032119.4(ADGRV1):c.18433-17_18433-16insCT	noncoding	Benign
5	91153323	GGATATGGCCAGGGGTCACT	G	T91153328G	ADGRV1	NM_032119.4(ADGRV1):c.18732_18750del:p.Gly6243_Tyr6244insTer	coding	Pathogenic
5	91163861	GGAGC	G	G91163862T	ADGRV1	NM_032119.4(ADGRV1):c.18883_18886del:p.Glu6295fs	coding	Pathogenic
5	93585142	AG	A	G93585143C	NR2F1	NM_005654.6(NR2F1):c.120del:p.Gln40fs	coding	Pathogenic
5	93588419	CAA	C	A93588421G	NR2F1	NM_005654.6(NR2F1):c.968_969del:p.Lys323fs	coding	Pathogenic
5	94520626	G	GT	G94520629T	KIAA0825	NM_173665.3(KIAA0825):c.591dup:p.Gln198fs	coding	Pathogenic/Likely_pathogenic
5	95498506	C	CT	G95498511T	TTC37	NM_014639.4(TTC37):c.3426dup:p.Ala1143fs	coding	Pathogenic
5	95498568	GT	G	T95498569G	TTC37	NM_014639.3(TTC37):c.3364del:p.Thr1122fs	coding	Pathogenic
5	95507014	TA	T	A95507025G	TTC37	NM_014639.4(TTC37):c.3015-4del	noncoding	Benign
5	95516411	TAAAAA	T	A95516413C	TTC37	NM_014639.3(TTC37):c.2578-7_2578-3del	noncoding	Pathogenic
5	95523653	AC	A	C95523655A	TTC37	NM_014639.3(TTC37):c.1632+1del	noncoding	Pathogenic
5	95530119	ACT	A	C95530120T	TTC37	NM_014639.4(TTC37):c.860_861del:p.Lys287fs	coding	Pathogenic
5	96416101	CCTG	C	T96416103A	PCSK1	NM_000439.5(PCSK1):c.638_640del:p.Ala213del	coding	Pathogenic
5	96737877	T	TA	T96737880A	CAST	NM_001750.7(CAST):c.730dup:p.Ile244fs	coding	Pathogenic
5	96762312	AG	A	G96762313T	CAST	NM_001190442.1(CAST):c.1585del:p.Val529fs	coding	Pathogenic
5	96765327	TAAA	T	A96765351T	CAST	NM_001750.7(CAST):c.2037+26_2037+28del	noncoding	Benign
5	96896864	G	GTAAGTCATATGTTGGGTAACGATAGACTGTTATTTAATCTAGAAAGTAACAGAATAATTGTGAATGTTTATAAATAGCTATATATTGTCAGTCAACCATA	T96896966A	ERAP2	NM_022350.5(ERAP2):c.1503+3_1503+102dup	noncoding	Benign
5	108867763	T	TC	A108867765C	FER	NM_005246.4(FER):c.482-3dup	noncoding	Benign
5	110739129	C	CGT	G110739131T	SLC25A46	NM_138773.4(SLC25A46):c.11_12insTG:p.Arg5fs	coding	Pathogenic
5	110739162	CG	C	G110739166T	SLC25A46	NM_138773.4(SLC25A46):c.47del:p.Gly16fs	coding	Pathogenic
5	110739284	G	GC	A110739286C	SLC25A46	NM_138773.4(SLC25A46):c.166dup:p.His56fs	coding	Pathogenic
5	110739301	GCCCGC	G	C110739304T	SLC25A46	NM_138773.4(SLC25A46):c.185_189del:p.Pro62fs	coding	Pathogenic
5	110756765	C	CT	A110756774T	SLC25A46	NM_138773.4(SLC25A46):c.678+14dup	noncoding	Benign
5	110761404	G	GACTT	A110761411T	SLC25A46	NM_138773.4(SLC25A46):c.882_885dup:p.Asn296fs	coding	Pathogenic
5	111113052	ATT	A	T111113063A	WDR36	NM_139281.2(WDR36):c.1885-11_1885-10del	noncoding	Benign
5	112707476	CA	C	A112707477G	APC	NM_000038.5(APC):c.-30467delA	noncoding	Benign
5	112707585	C	CG	A112707593G	APC	NM_001127511.3(APC):c.-126dup	noncoding	Benign/Likely_benign
5	112754903	TC	T	C112754904A	APC	NM_000038.6(APC):c.14del:p.Ser5fs	coding	Pathogenic
5	112754916	T	TTTTA	G112754917T	APC	NM_000038.6(APC):c.26_27insTTTA:p.Leu9fs	coding	Pathogenic
5	112754919	T	TA	G112754923A	APC	NM_000038.6(APC):c.32dup:p.Gln12fs	coding	Pathogenic
5	112754963	CAA	C	A112754964G	APC	NM_000038.6(APC):c.74_75del:p.Gln25fs	coding	Pathogenic
5	112754981	TC	T	C112754983A	APC	NM_000038.6(APC):c.93del:p.Asn32fs	coding	Pathogenic
5	112754993	AC	A	C112754994A	APC	NM_000038.6(APC):c.104del:p.Thr35fs	coding	Pathogenic
5	112754994	CA	C	A112754998C	APC	NM_000038.6(APC):c.108del:p.Lys36fs	coding	Pathogenic
5	112755021	T	TG	A112755023G	APC	NM_000038.6(APC):c.132dup:p.Lys45fs	coding	Pathogenic
5	112766334	TAAAC	T	A112766337C	APC	NM_000038.6(APC):c.147_150del:p.Lys49fs	coding	Pathogenic
5	112766344	CA	C	A112766346G	APC	NM_000038.6(APC):c.156del:p.Gly53fs	coding	Pathogenic
5	112766353	A	AG	T112766354G	APC	NM_000038.6(APC):c.163_164insG:p.Ile55fs	coding	Pathogenic
5	112766390	AT	A	T112766393A	APC	NM_000038.6(APC):c.203del:p.Leu68fs	coding	Pathogenic
5	112766406	TA	T	A112766409G	APC	NM_000038.6(APC):c.219del:p.Glu74fs	coding	Pathogenic
5	112767197	TTAGA	T	A112767201C	APC	NM_000038.6(APC):c.233_236del:p.Asp78fs	coding	Pathogenic
5	112767216	CT	C	T112767217G	APC	NM_000038.6(APC):c.249del:p.Gly84fs	coding	Pathogenic
5	112767222	T	TA	C112767227A	APC	NM_000038.6(APC):c.258dup:p.Leu87fs	coding	Pathogenic
5	112767234	CA	C	A112767239T	APC	NM_000038.6(APC):c.271del:p.Met91fs	coding	Pathogenic
5	112767242	TC	T	C112767245T	APC	NM_000038.6(APC):c.277del:p.Leu93fs	coding	Pathogenic
5	112767263	CG	C	G112767266A	APC	NM_000038.6(APC):c.298del:p.Glu100fs	coding	Pathogenic/Likely_pathogenic
5	112767307	TC	T	C112767309T	APC	NM_000038.6(APC):c.341del:p.Pro114fs	coding	Pathogenic
5	112767312	TGGGTTCATTTCCAA	T	G112767314A	APC	NM_000038.6(APC):c.346_359del:p.Gly116fs	coding	Pathogenic
5	112767331	AG	A	G112767334T	APC	NM_000038.6(APC):c.366del:p.Phe123fs	coding	Pathogenic
5	112767354	A	AT	A112767355T	APC	NM_000038.6(APC):c.386_387insT:p.Glu129fs	coding	Pathogenic
5	112767371	G	GTT	A112767372T	APC	NM_000038.6(APC):c.403_404insTT:p.Glu135fs	coding	Pathogenic
5	112767384	AAG	A	A112767389G	APC	NM_000038.6(APC):c.417_418AG[2]:p.Arg141fs	coding	Pathogenic
5	112775612	TA	T	A112775625T	APC	NM_000038.6(APC):c.423-4del	noncoding	Benign/Likely_benign
5	112775612	T	TA	T112775626A	APC	NM_000038.6(APC):c.423-4dup	noncoding	Benign
5	112775623	AAATAGGTCATTGCTTCTTGCTGATCTTGACAAAGAAG	A	T112775626A	APC	NM_000038.6(APC):c.423-3_456del	noncoding	Pathogenic
5	112775631	CAT	C	A112775632T	APC	NM_000038.6(APC):c.426_427del:p.Leu143fs	coding	Pathogenic
5	112775653	CAAAG	C	A112775656G	APC	NM_000038.6(APC):c.450_453del:p.Glu151fs	coding	Pathogenic
5	112775657	GA	G	A112775659G	APC	NM_000038.6(APC):c.453del:p.Glu152fs	coding	Pathogenic
5	112775660	GA	G	A112775664G	APC	NM_000038.6(APC):c.458del:p.Lys153fs	coding	Pathogenic
5	112775666	GA	G	A112775671G	APC	NM_000038.6(APC):c.465del:p.Asp156fs	coding	Pathogenic
5	112775677	G	GT	A112775679T	APC	NM_000038.6(APC):c.472dup:p.Tyr158fs	coding	Pathogenic
5	112775679	A	AT	A112775682T	APC	NM_000038.6(APC):c.475dup:p.Tyr159fs	coding	Pathogenic
5	112775681	T	TA	C112775683A	APC	NM_000038.6(APC):c.476dup:p.Tyr159Ter	coding	Pathogenic/Likely_pathogenic
5	112775682	AC	A	C112775683G	APC	NM_000038.6(APC):c.477del:p.Tyr158_Tyr159insTer	coding	Pathogenic
5	112775697	ATCTC	A	T112775698A	APC	NM_000038.6(APC):c.492_495del:p.Asn164fs	coding	Pathogenic
5	112775703	CTA	TT	C112775703T	APC	NM_000038.6(APC):c.497_499delinsTT:p.Thr166fs	coding	Pathogenic
5	112775704	TA	T	A112775708G	APC	NM_000038.6(APC):c.502del:p.Arg168fs	coding	Pathogenic
5	112775710	AATAG	A	A112775715T	APC	NM_000038.6(APC):c.505_508ATAG[1]:p.Asp170fs	coding	Pathogenic
5	112775711	ATAGAT	A	T112775712A	APC	NM_000038.6(APC):c.506_510del:p.Ile169fs	coding	Pathogenic
5	112775712	TAG	T	G112775714T	APC	NM_000038.6(APC):c.508_509del:p.Ile169_Asp170insTer	coding	Pathogenic/Likely_pathogenic
5	112775714	GATAGTCTT	G	A112775715C	APC	NM_000038.6(APC):c.509_516del:p.Asp170fs	coding	Pathogenic
5	112775720	C	CT	C112775723T	APC	NM_000038.6(APC):c.516dup:p.Pro173fs	coding	Pathogenic
5	112775726	TTAACTGAAAATG	T	C112775730G	APC	NM_000038.6(APC):c.524_531+4del	coding	Pathogenic/Likely_pathogenic
5	112775727	TAA	T	A112775728C	APC	NM_000038.6(APC):c.522_523del:p.Leu174fs	coding	Pathogenic
5	112775732	GA	G	A112775736T	APC	NM_000038.6(APC):c.530del:p.Asn177fs	coding	Pathogenic
5	112775738	G	GT	A112775740T	APC	NM_000038.6(APC):c.531+2dup	noncoding	Pathogenic
5	112780797	TACAA	T	A112780801G	APC	NM_000038.6(APC):c.543_546del:p.Thr182fs	coding	Pathogenic
5	112780803	CAG	C	G112780805T	APC	NM_000038.6(APC):c.547_548del:p.Asp183fs	coding	Pathogenic
5	112780815	GA	G	A112780817G	APC	NM_000038.6(APC):c.559del:p.Arg187fs	coding	Pathogenic
5	112780825	G	GGA	A112780828G	APC	NM_000038.6(APC):c.568_569dup:p.Tyr191fs	coding	Pathogenic
5	112780827	A	AAT	G112780832A	APC	NM_000038.6(APC):c.570_571AT[3]:p.Glu192fs	coding	Pathogenic
5	112780850	G	GT	G112780853T	APC	NM_000038.6(APC):c.594dup:p.Ala199fs	coding	Pathogenic
5	112780852	T	TG	C112780854G	APC	NM_000038.6(APC):c.595dup:p.Ala199fs	coding	Pathogenic
5	112780864	AC	A	C112780865A	APC	NM_000038.6(APC):c.607del:p.Gln203fs	coding	Pathogenic
5	112780889	G	GA	C112780895A	APC	NM_000038.6(APC):c.636dup:p.Arg213fs	coding	Pathogenic
5	112792453	TAGCC	T	C112792456A	APC	NM_000038.6(APC):c.656_659del:p.Ala219fs	coding	Pathogenic
5	112792482	ATACT	A	A112792484C	APC	NM_000038.6(APC):c.684_687del:p.Leu229fs	coding	Pathogenic
5	112792485	C	TT	C112792485T	APC	NM_000038.6(APC):c.685delinsTT:p.Leu229fs	coding	Pathogenic
5	112792509	T	TC	A112792513C	APC	NM_000038.6(APC):c.712dup:p.Gln238fs	coding	Pathogenic
5	112792521	G	GA	G112792524A	APC	NM_000038.6(APC):c.723dup:p.Ala242fs	coding	Pathogenic
5	112801276	CAG	C	A112801279G	APC	NM_000038.5(APC):c.730_731delAG:p.Arg244Valfs	noncoding	Pathogenic
5	112801298	A	ATG	A112801301T	APC	NM_000038.6(APC):c.750_751dup:p.Glu251fs	coding	Pathogenic
5	112801310	C	CA	C112801312A	APC	NM_000038.6(APC):c.762dup:p.His255fs	coding	Pathogenic
5	112801339	CA	C	A112801341G	APC	NM_000038.5(APC):c.792del:p.Gly265Glufs	coding	Pathogenic
5	112801346	TG	T	G112801349A	APC	NM_000038.6(APC):c.800del:p.Gly267fs	coding	Pathogenic
5	112801373	GT	G	T112801374A	APC	NM_000038.6(APC):c.825del:p.Asn276fs	coding	Pathogenic
5	112815530	TGTTTTGA	T	T112815534C	APC	NM_000038.6(APC):c.874_880del:p.Ser293fs	coding	Pathogenic
5	112815531	G	GT	G112815536T	APC	NM_000038.6(APC):c.875dup:p.Leu292fs	coding	Pathogenic
5	112815531	GT	G	T112815535G	APC	NM_000038.6(APC):c.875del:p.Val291_Leu292insTer	coding	Pathogenic
5	112815537	AG	A	G112815538T	APC	NM_000038.6(APC):c.878del:p.Ser293fs	coding	Pathogenic
5	112815540	TC	T	C112815541T	APC	NM_000038.6(APC):c.881del:p.Ser294fs	coding	Pathogenic
5	112815547	GCACA	G	A112815551T	APC	NM_000038.6(APC):c.889_890AC[1]:p.His298fs	coding	Pathogenic
5	112815547	GCA	G	A112815553T	APC	NM_000038.6(APC):c.889_890AC[2]:p.His298fs	coding	Pathogenic
5	112815553	ACT	A	C112815556G	APC	NM_000038.6(APC):c.894_895CT[1]:p.Ser299fs	coding	Pathogenic
5	112818966	G	GT	G112818968T	APC	NM_000038.6(APC):c.935dup:p.Glu313fs	coding	Pathogenic
5	112818986	GT	G	T112818988G	APC	NM_000038.6(APC):c.956del:p.Leu319fs	coding	Pathogenic
5	112818996	C	CT	G112818999T	APC	NM_000038.6(APC):c.966dup:p.Gly323fs	coding	Pathogenic
5	112819005	C	CA	T112819007A	APC	NM_000038.6(APC):c.974dup:p.His325fs	coding	Pathogenic
5	112819020	AT	A	T112819021G	APC	NM_000038.6(APC):c.989del:p.Met330fs	coding	Pathogenic
5	112819073	GC	G	C112819074G	APC	NM_000038.6(APC):c.1042del:p.Arg348fs	coding	Pathogenic
5	112819078	AGTCTGGATGTCTTCCTCTCCTCATCCAGCTTTTACATGGCAATGACAAAGACTCTGTATTGTTGGGAAATTCCCGGGGCAGTAAAGAGGCTCGG	A	T112819080C	APC	NM_000038.6(APC):c.1048_1141del:p.Ser350fs	coding	Pathogenic
5	112819089	C	CT	C112819092T	APC	NM_000038.6(APC):c.1059dup:p.Pro354fs	coding	Pathogenic
5	112819090	T	TTAAGGATGATA	C112819092A	APC	NM_000038.6(APC):c.1059_1060insAAGGATGATAT:p.Pro354fs	coding	Pathogenic
5	112819100	C	CA	T112819102A	APC	NM_000038.6(APC):c.1069dup:p.Ile357fs	coding	Pathogenic
5	112819129	ACT	A	C112819132G	APC	NM_000038.6(APC):c.1098_1099CT[1]:p.Ser367fs	coding	Pathogenic
5	112819132	CT	C	T112819133G	APC	NM_000038.6(APC):c.1101del:p.Val368fs	coding	Pathogenic
5	112819132	CTG	C	G112819134A	APC	NM_000038.6(APC):c.1102_1103del:p.Val368fs	coding	Pathogenic
5	112819152	CG	C	G112819156C	APC	NM_000038.6(APC):c.1124del:p.Gly375fs	coding	Pathogenic
5	112819170	CG	C	G112819173C	APC	NM_000038.6(APC):c.1141del:p.Ala381fs	coding	Pathogenic
5	112819184	T	TG	C112819186G	APC	NM_000038.6(APC):c.1153dup:p.Ala385fs	coding	Pathogenic
5	112819208	C	CT	C112819210T	APC	NM_000038.6(APC):c.1177dup:p.Ser393fs	coding	Pathogenic
5	112819223	CAA	C	A112819224G	APC	NM_000038.6(APC):c.1192_1193del:p.Lys398fs	coding	Pathogenic
5	112819239	GA	G	A112819242T	APC	NM_000038.6(APC):c.1210del:p.Ile404fs	coding	Pathogenic
5	112819243	TC	T	C112819245G	APC	NM_000038.6(APC):c.1213del:p.Arg405fs	coding	Pathogenic
5	112819249	TC	T	C112819251T	APC	NM_000038.6(APC):c.1219del:p.Leu407fs	coding	Pathogenic
5	112819257	C	CT	G112819262T	APC	NM_000038.6(APC):c.1229dup:p.Leu410fs	coding	Pathogenic
5	112819257	CT	C	T112819261G	APC	NM_000038.6(APC):c.1229del:p.Leu410fs	coding	Pathogenic
5	112819270	T	TA	C112819272A	APC	NM_000038.6(APC):c.1239dup:p.Arg414fs	coding	Pathogenic
5	112819273	GCGCTT	A	G112819273A	APC	NM_000038.6(APC):c.1241_1246delinsA:p.Arg414fs	coding	Pathogenic
5	112819275	GCTTA	G	T112819278G	APC	NM_000038.6(APC):c.1246_1249del:p.Tyr416fs	coding	Pathogenic
5	112819276	C	CT	A112819279T	APC	NM_000038.6(APC):c.1246dup:p.Tyr416fs	coding	Pathogenic/Likely_pathogenic
5	112819310	TCATGAACCAGG	T	A112819315G	APC	NM_000038.6(APC):c.1283_1293del:p.Glu428fs	coding	Pathogenic
5	112819316	AC	A	C112819318A	APC	NM_000038.6(APC):c.1286del:p.Pro429fs	coding	Pathogenic
5	112819334	CA	C	A112819339T	APC	NM_000038.6(APC):c.1307del:p.Asn436fs	coding	Pathogenic
5	112819342	CAAG	C	A112819343T	APC	NM_000038.6(APC):c.1311_1312+1del	coding	Pathogenic
5	112819345	GTA	G	A112819347G	APC	NM_000038.6(APC):c.1312+3_1312+4del	noncoding	Pathogenic
5	112821905	CT	C	T112821906G	APC	NM_000038.6(APC):c.1323del:p.Val442fs	coding	Pathogenic
5	112821918	GA	G	A112821919T	APC	NM_000038.6(APC):c.1336del:p.Ile446fs	coding	Pathogenic
5	112821924	T	TC	T112821927C	APC	NM_000038.6(APC):c.1343dup:p.Ala449fs	coding	Pathogenic
5	112821928	GC	G	C112821929T	APC	NM_000038.6(APC):c.1346del:p.Ala449fs	coding	Pathogenic
5	112821929	C	CTG	T112821939G	APC	NM_000038.6(APC):c.1348_1349GT[5]:p.Leu453fs	coding	Pathogenic
5	112821929	CTG	C	G112821937T	APC	NM_000038.6(APC):c.1348_1349GT[3]:p.Val452fs	coding	Pathogenic
5	112821940	CT	C	T112821941A	APC	NM_000038.6(APC):c.1358del:p.Leu453fs	coding	Pathogenic
5	112821949	CT	C	T112821952C	APC	NM_000038.6(APC):c.1369del:p.Ser457fs	coding	Pathogenic
5	112821973	C	CA	T112821975A	APC	NM_000038.6(APC):c.1391dup:p.His464fs	coding	Pathogenic
5	112821976	GC	G	C112821977A	APC	NM_000038.6(APC):c.1394del:p.Ala465fs	coding	Pathogenic
5	112827105	TAGG	T	A112827106G	APC	NM_000038.6(APC):c.1409-2_1409del	noncoding	Pathogenic
5	112827106	A	AG	A112827112G	APC	NC_000005.10:g.112827111dup	noncoding	Pathogenic
5	112827113	C	CT	A112827115T	APC	NM_000038.6(APC):c.1415dup:p.Gln473fs	coding	Pathogenic
5	112827128	GA	G	A112827130T	APC	NM_000038.6(APC):c.1431del:p.Glu477fs	coding	Pathogenic
5	112827128	G	GA	T112827131A	APC	NM_000038.6(APC):c.1431dup:p.Leu478fs	coding	Pathogenic
5	112827130	AT	A	T112827132A	APC	NM_000038.6(APC):c.1433del:p.Leu478fs	coding	Pathogenic
5	112827145	CTG	C	T112827148A	APC	NM_000038.6(APC):c.1447_1448TG[1]:p.Cys483_Glu484delinsTer	coding	Pathogenic
5	112827160	GCTTA	G	T112827163A	APC	NM_000038.6(APC):c.1464_1467del:p.Thr489fs	coding	Pathogenic
5	112827162	TTACTAATGACCAC	T	T112827166A	APC	NM_000038.6(APC):c.1467_1479del:p.Asn490fs	coding	Pathogenic
5	112827175	CT	C	T112827176A	APC	NM_000038.6(APC):c.1477del:p.Tyr493fs	coding	Pathogenic
5	112827182	A	AT	A112827185T	APC	NM_000038.6(APC):c.1485dup:p.Thr496fs	coding	Pathogenic
5	112827193	ACGATATGCTGGAATGG	A	G112827195T	APC	NM_000038.6(APC):c.1496_1511del:p.Arg499fs	coding	Pathogenic
5	112827224	AC	A	C112827225T	APC	NM_000038.6(APC):c.1526del:p.Thr509fs	coding	Pathogenic
5	112827224	ACT	GAGATGTAGCCTTTGAGATGTTGGC	A112827224G	APC	NM_000038.6(APC):c.1525_1527delinsGAGATGTAGCCTTTGAGATGTTGGC:p.Thr509delinsGluMetTer	coding	Pathogenic
5	112827225	CTT	C	T112827228G	APC	NM_000038.6(APC):c.1529_1530del:p.Phe510fs	coding	Pathogenic
5	112827236	G	GTA	G112827239T	APC	NM_000038.6(APC):c.1538_1539dup:p.Ala514Ter	coding	Pathogenic
5	112827939	GC	G	C112827940T	APC	NM_000038.6(APC):c.1560del:p.Ser521fs	coding	Pathogenic
5	112827943	T	TA	T112827945A	APC	NM_000038.6(APC):c.1564dup:p.Met522fs	coding	Pathogenic
5	112827984	CTG	C	T112827985A	APC	NM_000038.6(APC):c.1605_1606del:p.Glu536fs	coding	Pathogenic
5	112827986	GA	G	A112827989G	APC	NM_000038.6(APC):c.1609del:p.Ser537fs	coding	Pathogenic
5	112827993	AAGACTTAC	A	A112827996C	APC	NM_000038.6(APC):c.1616_1623del:p.Asp539fs	coding	Pathogenic
5	112827997	C	TGT	C112827997T	APC	NM_000038.6(APC):c.1617delinsTGT:p.Leu540fs	coding	Pathogenic
5	112827999	TA	T	A112828000C	APC	NM_000038.6(APC):c.1620del:p.Leu540fs	coding	Pathogenic
5	112827999	T	TA	C112828001A	APC	NM_000038.6(APC):c.1620dup:p.Gln541fs	coding	Pathogenic
5	112827999	T	TAG	C112828001G	APC	NM_000038.6(APC):c.1620_1621insGA:p.Gln541fs	coding	Pathogenic
5	112828861	T	TG	C112828863G	APC	NM_000038.6(APC):c.1633dup:p.Ala545fs	coding	Pathogenic
5	112828868	GT	G	T112828872G	APC	NM_000038.6(APC):c.1643del:p.Val547_Leu548insTer	coding	Pathogenic
5	112828878	AT	A	T112828881G	APC	NM_000038.6(APC):c.1652del:p.Leu551fs	coding	Pathogenic
5	112828879	TTTGTC	T	T112828883G	APC	NM_000038.6(APC):c.1654_1658del:p.Ser552fs	coding	Pathogenic
5	112828884	CT	C	T112828886G	APC	NM_000038.6(APC):c.1657del:p.Trp553fs	coding	Pathogenic
5	112828922	GA	G	A112828924G	APC	NM_000038.6(APC):c.1695del:p.Val566fs	coding	Pathogenic
5	112828933	TG	T	G112828934T	APC	NM_000038.6(APC):c.1705del:p.Ser568_Val569insTer	coding	Pathogenic/Likely_pathogenic
5	112828935	T	TG	A112828937G	APC	NM_000038.6(APC):c.1707dup:p.Lys570fs	coding	Pathogenic
5	112828945	GA	G	A112828946T	APC	NM_000038.6(APC):c.1717del:p.Met573fs	coding	Pathogenic
5	112828966	TA	T	A112828971G	APC	NM_000038.6(APC):c.1742del:p.Lys581fs	coding	Pathogenic
5	112834945	TAC	AG	T112834945A	APC	NM_000038.6(APC):c.1744-6_1744-4delinsAG	noncoding	Pathogenic
5	112834957	AC	A	C112834960T	APC	NM_000038.6(APC):c.1753del:p.Leu585fs	coding	Pathogenic
5	112834962	CA	C	A112834966G	APC	NM_000038.6(APC):c.1759del:p.Ser587fs	coding	Pathogenic
5	112834962	C	CA	G112834967A	APC	NM_000038.6(APC):c.1759dup:p.Ser587fs	coding	Pathogenic
5	112834972	T	TTG	A112834975T	APC	NM_000038.6(APC):c.1766_1767dup:p.Ser590Ter	coding	Pathogenic
5	112835013	TA	T	A112835016G	APC	NM_000038.6(APC):c.1809del:p.Ala604fs	coding	Pathogenic
5	112835035	GA	G	A112835036T	APC	NM_000038.6(APC):c.1829del:p.Asp610fs	coding	Pathogenic
5	112835039	GTGCAC	G	G112835041T	APC	NM_000038.6(APC):c.1834_1838del:p.Ala612fs	coding	Pathogenic
5	112835058	TGGCACTCTTACTTACC	T	C112835061A	APC	NM_000038.6(APC):c.1854_1869del:p.Thr619fs	coding	Pathogenic
5	112835064	TCTTA	T	T112835070C	APC	NM_000038.6(APC):c.1863_1866del:p.Tyr622fs	coding	Pathogenic
5	112835067	T	TA	C112835069A	APC	NM_000038.6(APC):c.1861dup:p.Thr621fs	coding	Pathogenic
5	112835068	AC	A	C112835069T	APC	NM_000038.6(APC):c.1862del:p.Thr621fs	coding	Pathogenic
5	112835073	CC	AT	C112835073A	APC	NM_000038.6(APC):c.1866_1867delinsAT:p.Tyr622_Arg623delinsTer	coding	Pathogenic
5	112835079	CCAGA	C	G112835082A	APC	NM_000038.6(APC):c.1875_1878del:p.Asn627fs	coding	Pathogenic
5	112835082	GACAA	G	A112835086C	APC	NM_000038.6(APC):c.1879_1882del:p.Asn627fs	coding	Pathogenic
5	112835090	C	CT	A112835094T	APC	NM_000038.6(APC):c.1886dup:p.Leu629fs	coding	Pathogenic
5	112835090	CT	C	T112835093A	APC	NM_000038.6(APC):c.1886del:p.Thr628_Leu629insTer	coding	Pathogenic
5	112835092	T	TA	T112835093A	APC	NM_000038.6(APC):c.1885_1886insA:p.Leu629fs	coding	Pathogenic
5	112835098	ATTATTGAAAGTGGAGGTGGGATATTACGGAATGTGTCCAGCTTGATAGCTACAAATGAGGACCACAGGTATATATAGAGTTTTATATTACTT	A	T112835102A	APC	NM_000038.6(APC):c.1895_1958+28del	coding	Pathogenic
5	112835099	TTATTGAAAGTGG	AAT	T112835099A	APC	NM_000038.6(APC):c.1892_1904delinsAAT:p.Ile631fs	coding	Pathogenic/Likely_pathogenic
5	112835150	CA	C	A112835153T	APC	NM_000038.6(APC):c.1946del:p.Asn649fs	coding	Pathogenic
5	112837560	CTAAGAGAG	C	T112837561A	APC	NM_000038.6(APC):c.1967_1974del:p.Leu656fs	coding	Pathogenic
5	112837561	TAAGA	T	A112837562G	APC	NM_000038.6(APC):c.1968_1971del:p.Glu658fs	coding	Pathogenic
5	112837561	TAA	T	A112837562G	APC	NM_000038.6(APC):c.1968_1969del:p.Asn659fs	coding	Pathogenic
5	112837562	AAG	A	G112837568A	APC	NM_000038.6(APC):c.1970_1971GA[2]:p.Asn659fs	coding	Pathogenic
5	112837562	AAGAG	A	G112837566A	APC	NM_000038.6(APC):c.1970_1971GA[1]:p.Glu658fs	coding	Pathogenic
5	112837571	CA	C	A112837573C	APC	NM_000038.6(APC):c.1979del:p.Asn660fs	coding	Pathogenic
5	112837571	C	CTTTCT	A112837572T	APC	NM_000038.6(APC):c.1977_1978insTTTCT:p.Asn660fs	coding	Pathogenic
5	112837585	CTT	C	T112837587A	APC	NM_000038.6(APC):c.1993_1994del:p.Leu665fs	coding	Pathogenic
5	112837597	AC	A	C112837598T	APC	NM_000038.6(APC):c.2004del:p.His668_Leu669insTer	coding	Pathogenic
5	112837602	AAATCTC	TAGTTTTGTA	A112837602T	APC	NM_000038.6(APC):c.2008_2014delinsTAGTTTTGTA:p.Lys670_His672delinsTer	coding	Pathogenic
5	112837616	G	GAC	A112837620C	APC	NM_000038.6(APC):c.2024_2025dup:p.Ile676fs	coding	Pathogenic
5	112837621	TAGTC	T	C112837625A	APC	NM_000038.6(APC):c.2031_2034del:p.Ser678fs	coding	Pathogenic
5	112837628	T	TA	T112837631A	APC	NM_000038.6(APC):c.2036dup:p.Asn679fs	coding	Pathogenic
5	112837649	GA	G	A112837651T	APC	NM_000038.6(APC):c.2057del:p.Asn686fs	coding	Pathogenic
5	112837675	AC	A	C112837677A	APC	NM_000038.6(APC):c.2083del:p.Gln695fs	coding	Pathogenic
5	112837689	TG	T	G112837692A	APC	NM_000038.6(APC):c.2098del:p.Asp700fs	coding	Pathogenic
5	112837693	A	AC	A112837695C	APC	NM_000038.6(APC):c.2100dup:p.Met701fs	coding	Pathogenic
5	112837696	TG	T	G112837701C	APC	NM_000038.6(APC):c.2107del:p.Ala703fs	coding	Pathogenic
5	112837696	T	TG	C112837702G	APC	NM_000038.6(APC):c.2107dup:p.Ala703fs	coding	Pathogenic
5	112837722	CT	C	T112837723C	APC	NM_000038.6(APC):c.2129del:p.Leu710fs	coding	Pathogenic
5	112837725	AT	A	T112837727C	APC	NM_000038.6(APC):c.2133del:p.His712fs	coding	Pathogenic
5	112837752	ATGGGAAGTGC	A	G112837755C	APC	NM_000038.6(APC):c.2161_2170del:p.Gly721fs	coding	Pathogenic
5	112837763	T	TG	C112837765G	APC	NM_000038.6(APC):c.2170dup:p.Ala724fs	coding	Pathogenic
5	112837768	CT	C	T112837771A	APC	NM_000038.6(APC):c.2177del:p.Ala725_Leu726insTer	coding	Pathogenic
5	112837777	ATCTCATGGCAAATAGGCCTGCGAAGTACAAGGATGCCAATATTATGTCTCCTGGCTCAAGCTTGCCATCTCTTCATGTTAGGAAACAAAAAGCCCTAGAAGCAGAATTAGATGCTCAGCACTTATCAGAAACTTTTGACAATATAGACAATT	A	C112837779A	APC	NM_000038.6(APC):c.2185_2336del:p.Leu729fs	coding	Pathogenic
5	112837779	C	CTGCAGCT	C112837781G	APC	NM_000038.6(APC):c.2186_2187insGCAGCTT:p.Met730fs	coding	Pathogenic
5	112837822	TG	T	G112837823T	APC	NM_000038.6(APC):c.2229del:p.Met743fs	coding	Pathogenic
5	112837897	A	AT	C112837898T	APC	NM_000038.6(APC):c.2303_2304insT:p.Ser770fs	coding	Pathogenic
5	112837900	TA	C	T112837900C	APC	NM_000038.6(APC):c.2306_2307delinsC:p.Leu769fs	coding	Pathogenic
5	112837905	GA	G	A112837908C	APC	NM_000038.6(APC):c.2314del:p.Thr772fs	coding	Pathogenic
5	112837918	AT	A	T112837919A	APC	NM_000038.6(APC):c.2325del:p.Asn775fs	coding	Pathogenic
5	112837926	AATTT	A	T112837928A	APC	NM_000038.6(APC):c.2334_2337del:p.Asn778fs	coding	Pathogenic
5	112837927	A	AT	A112837931T	APC	NM_000038.6(APC):c.2336dup:p.Leu779fs	coding	Pathogenic
5	112837927	AT	A	T112837930A	APC	NM_000038.6(APC):c.2336del:p.Asn778_Leu779insTer	coding	Pathogenic
5	112837930	TA	T	A112837932G	APC	NM_000038.6(APC):c.2338del:p.Ser780fs	coding	Pathogenic
5	112837959	C	CAG	C112837965G	APC	NM_000038.6(APC):c.2367_2368GA[3]:p.His791fs	coding	Pathogenic
5	112837971	C	CA	G112837975A	APC	NM_000038.6(APC):c.2380dup:p.Ser794fs	coding	Pathogenic
5	112837979	CTA	C	A112837981G	APC	NM_000038.6(APC):c.2387_2388del:p.Tyr796fs	coding	Pathogenic
5	112837982	T	TG	T112837985G	APC	NM_000038.6(APC):c.2390dup:p.Gly797_Asp798insTer	coding	Pathogenic
5	112837987	A	AT	A112837990T	APC	NM_000038.6(APC):c.2395dup:p.Tyr799fs	coding	Pathogenic
5	112837987	AT	A	T112837989A	APC	NM_000038.6(APC):c.2395del:p.Tyr799fs	coding	Pathogenic
5	112837988	T	TG	T112837989G	APC	NM_000038.6(APC):c.2394_2395insG:p.Tyr799fs	coding	Pathogenic
5	112838008	G	GA	C112838010A	APC	NM_000038.6(APC):c.2415dup:p.His806fs	coding	Pathogenic
5	112838015	T	TGATAATAGGTCAGACAATTTTAATACTGGCAACATGACTGTCCTTTCACCATATTTGAATACTACAGTGTTACCCAGCTCCTCTTCATCAA	G112838109T	APC	NM_000038.6(APC):c.2424_2514dup:p.Gly839Ter	coding	Pathogenic
5	112838018	TA	T	A112838020T	APC	NM_000038.6(APC):c.2426del:p.Asn809fs	coding	Pathogenic
5	112838060	T	TA	T112838061A	APC	NM_000038.6(APC):c.2466_2467insA:p.Ser823fs	coding	Pathogenic
5	112838076	AC	A	C112838077T	APC	NM_000038.6(APC):c.2483del:p.Thr828fs	coding	Pathogenic
5	112838078	TA	T	A112838079C	APC	NM_000038.6(APC):c.2485del:p.Thr829fs	coding	Pathogenic
5	112838087	ACCCAGCT	A	C112838090T	APC	NM_000038.6(APC):c.2496_2502del:p.Ser833fs	coding	Pathogenic
5	112838101	CATCA	G	C112838101G	APC	NM_000038.6(APC):c.2507_2511delinsG:p.Ser835_Ser836insTer	coding	Pathogenic
5	112838114	CT	C	T112838116A	APC	NM_000038.6(APC):c.2522del:p.Ser840_Leu841insTer	coding	Pathogenic
5	112838119	ATAGT	A	A112838121C	APC	NM_000038.6(APC):c.2527_2530del:p.Ser843fs	coding	Pathogenic
5	112838121	AG	A	G112838122T	APC	NM_000038.6(APC):c.2528del:p.Ser843fs	coding	Pathogenic
5	112838123	TTC	T	T112838126G	APC	NM_000038.6(APC):c.2530_2531TC[1]:p.Arg845fs	coding	Pathogenic
5	112838128	GT	G	T112838130C	APC	NM_000038.6(APC):c.2536del:p.Ser846fs	coding	Pathogenic
5	112838137	AAGAT	A	T112838141A	APC	NM_000038.6(APC):c.2547_2550del:p.Asp849fs	coding	Pathogenic
5	112838150	GGA	G	G112838157A	APC	NM_000038.6(APC):c.2557_2558GA[3]:p.Glu855fs	coding	Pathogenic
5	112838160	C	CG	C112838162G	APC	NM_000038.6(APC):c.2567dup:p.Gly857fs	coding	Pathogenic
5	112838162	CG	C	G112838164A	APC	NM_000038.6(APC):c.2570del:p.Gly857fs	coding	Pathogenic
5	112838175	GGCAACTACCATCCA	G	T112838181A	APC	NM_000038.6(APC):c.2587_2600del:p.Tyr863fs	coding	Pathogenic
5	112838204	AG	A	G112838206A	APC	NM_000038.6(APC):c.2612del:p.Gly871fs	coding	Pathogenic
5	112838209	C	CT	C112838212T	APC	NM_000038.6(APC):c.2617dup:p.Ser873fs	coding	Pathogenic
5	112838215	C	CA	G112838219A	APC	NM_000038.6(APC):c.2624dup:p.Arg876fs	coding	Pathogenic
5	112838245	C	CA	G112838247A	APC	NM_000038.6(APC):c.2652dup:p.Ala885fs	coding	Pathogenic
5	112838250	CA	C	A112838251G	APC	NM_000038.6(APC):c.2657del:p.Gln886fs	coding	Pathogenic
5	112838258	CA	C	A112838261G	APC	NM_000038.6(APC):c.2667del:p.Val890fs	coding	Pathogenic
5	112838273	A	AGTGTCAG	C112838281G	APC	NM_000038.6(APC):c.2680_2686dup:p.Ala896fs	coding	Pathogenic
5	112838275	TGT	GTATG	T112838275G	APC	NM_000038.6(APC):c.2681_2683delinsGTATG:p.Val894fs	coding	Pathogenic
5	112838277	T	TCAGC	T112838284G	APC	NM_000038.6(APC):c.2686_2689dup:p.Ile897fs	coding	Pathogenic
5	112838286	C	CT	A112838287T	APC	NM_000038.6(APC):c.2692_2693insT:p.His898fs	coding	Pathogenic
5	112838287	AT	A	T112838288A	APC	NM_000038.6(APC):c.2694del:p.His898fs	coding	Pathogenic
5	112838303	CAG	C	G112838305A	APC	NM_000038.6(APC):c.2711_2712del:p.Arg904fs	coding	Pathogenic
5	112838335	GT	G	T112838336G	APC	NM_000038.6(APC):c.2742del:p.Cys914fs	coding	Pathogenic
5	112838384	ACATT	A	T112838387A	APC	NM_000038.6(APC):c.2793_2796del:p.His931fs	coding	Pathogenic
5	112838384	AC	GTGT	A112838384G	APC	NM_000038.6(APC):c.2790_2791delinsGTGT:p.His931fs	coding	Pathogenic
5	112838393	CACTT	C	T112838396A	APC	NM_000038.6(APC):c.2802_2805del:p.Tyr935fs	coding	Pathogenic
5	112838397	T	TA	C112838399A	APC	NM_000038.6(APC):c.2804dup:p.Tyr935Ter	coding	Pathogenic/Likely_pathogenic
5	112838397	T	TACAATTTC	T112838408A	APC	NM_000038.6(APC):c.2806_2813dup:p.Lys939fs	coding	Pathogenic
5	112838398	AC	A	C112838399A	APC	NM_000038.6(APC):c.2805del:p.Thr934_Tyr935insTer	coding	Pathogenic
5	112838408	TAA	T	A112838409G	APC	NM_000038.6(APC):c.2815_2816del:p.Lys939fs	coding	Pathogenic
5	112838412	TC	T	C112838413G	APC	NM_000038.6(APC):c.2819del:p.Ser940fs	coding	Pathogenic
5	112838415	GA	G	A112838419T	APC	NM_000038.6(APC):c.2825del:p.Asn942fs	coding	Pathogenic
5	112838430	AC	A	C112838431A	APC	NM_000038.6(APC):c.2837del:p.Thr946fs	coding	Pathogenic
5	112838432	ATG	A	G112838434T	APC	NM_000038.6(APC):c.2840_2841del:p.Cys947fs	coding	Pathogenic
5	112838437	C	CTATG	C112838442T	APC	NM_000038.6(APC):c.2844_2847dup:p.Pro950fs	coding	Pathogenic
5	112838446	AT	A	T112838447G	APC	NM_000038.6(APC):c.2853del:p.Pro950_Tyr951insTer	coding	Pathogenic
5	112838450	C	CA	T112838454A	APC	NM_000038.6(APC):c.2859dup:p.Leu954fs	coding	Pathogenic
5	112838456	AG	A	G112838457A	APC	NM_000038.6(APC):c.2863del:p.Glu955fs	coding	Pathogenic
5	112838471	TTCAAA	T	C112838473G	APC	NM_000038.6(APC):c.2879_2883del:p.Ser959_Ser960insTer	coding	Pathogenic
5	112838477	TG	T	G112838478A	APC	NM_000038.6(APC):c.2884del:p.Asp962fs	coding	Pathogenic
5	112838485	TA	T	A112838488T	APC	NM_000038.6(APC):c.2894del:p.Asn965fs	coding	Pathogenic
5	112838487	AAT	A	T112838489G	APC	NM_000038.6(APC):c.2895_2896del:p.Asn965fs	coding	Pathogenic
5	112838499	A	AC	G112838500C	APC	NM_000038.6(APC):c.2905_2906insC:p.Ser969fs	coding	Pathogenic
5	112838502	AGT	A	T112838504A	APC	NM_000038.6(APC):c.2910_2911del:p.Ser970fs	coding	Pathogenic
5	112838516	TA	T	A112838520G	APC	NM_000038.6(APC):c.2926del:p.Arg976fs	coding	Pathogenic
5	112838558	AG	T	A112838558T	APC	NM_000038.6(APC):c.2964_2965delinsT:p.Glu988fs	coding	Pathogenic
5	112838583	TATGGTC	T	T112838585A	APC	NM_000038.6(APC):c.2991_2996del:p.Tyr997_Gln999delinsTer	coding	Pathogenic
5	112838592	TACCCAGC	T	A112838593C	APC	NM_000038.6(APC):c.2999_3005del:p.Tyr1000fs	coding	Pathogenic
5	112838593	AC	A	C112838596A	APC	NM_000038.6(APC):c.3002del:p.Pro1001fs	coding	Pathogenic
5	112838607	GC	G	C112838610A	APC	NM_000038.6(APC):c.3016del:p.His1006fs	coding	Pathogenic
5	112838621	TA	T	A112838622G	APC	NM_000038.6(APC):c.3028del:p.Ser1010fs	coding	Pathogenic
5	112838652	GA	G	A112838654C	APC	NM_000038.6(APC):c.3060del:p.Glu1020fs	coding	Pathogenic
5	112838654	ACT	TAATTGG	A112838654T	APC	NM_000038.6(APC):c.3060_3062delinsTAATTGG:p.Glu1020fs	coding	Pathogenic
5	112838660	T	TA	C112838662A	APC	NM_000038.6(APC):c.3067dup:p.Thr1023fs	coding	Pathogenic
5	112838681	T	TA	T112838685A	APC	NM_000038.6(APC):c.3090dup:p.Tyr1031fs	coding	Pathogenic
5	112838707	CTG	C	T112838708G	APC	NM_000038.6(APC):c.3114_3115del:p.Gly1039fs	coding	Pathogenic
5	112838715	CAA	C	A112838717G	APC	NM_000038.6(APC):c.3123_3124del:p.Pro1043fs	coding	Pathogenic
5	112838718	AG	A	G112838719T	APC	NM_000038.6(APC):c.3125del:p.Ser1042fs	coding	Pathogenic
5	112838729	GA	G	A112838731T	APC	NM_000038.6(APC):c.3137del:p.Asn1046fs	coding	Pathogenic
5	112838742	GC	G	C112838743A	APC	NM_000038.6(APC):c.3149del:p.Ala1050fs	coding	Pathogenic
5	112838755	AC	A	C112838756A	APC	NM_000038.6(APC):c.3162del:p.His1054fs	coding	Pathogenic
5	112838756	CATAAT	C	T112838758G	APC	NM_000038.6(APC):c.3164_3168del:p.Ile1055fs	coding	Pathogenic
5	112838758	TAATA	T	A112838759G	APC	NM_000038.6(APC):c.3165_3168del:p.Ile1055fs	coding	Pathogenic
5	112838769	GAAATA	G	T112838773C	APC	NM_000038.6(APC):c.3179_3183del:p.Ile1060fs	coding	Pathogenic
5	112838773	TAAAAC	T	A112838777G	APC	NM_000038.6(APC):c.3183_3187del:p.Lys1061_Gln1062insTer	coding	Pathogenic
5	112838773	T	TA	C112838778A	APC	NM_000038.6(APC):c.3183dup:p.Gln1062fs	coding	Pathogenic
5	112838774	AAAAC	A	C112838778G	APC	NM_000038.6(APC):c.3184_3187del:p.Gln1062fs	coding	Pathogenic
5	112838777	AC	A	C112838778A	APC	NM_000038.6(APC):c.3184del:p.Gln1062fs	coding	Pathogenic
5	112838778	CAA	C	A112838780G	APC	NM_000038.6(APC):c.3186_3187del:p.Gln1062_Ser1063insTer	coding	Pathogenic
5	112838780	AAGTG	A	T112838783C	APC	NM_000038.6(APC):c.3189_3192del:p.Glu1064fs	coding	Pathogenic
5	112838787	CA	C	A112838790G	APC	NM_000038.6(APC):c.3196del:p.Arg1066fs	coding	Pathogenic
5	112838792	ACAAT	A	T112838796G	APC	NM_000038.6(APC):c.3202_3205del:p.Ser1068fs	coding	Pathogenic
5	112838804	TCA	T	C112838805A	APC	NM_000038.6(APC):c.3211_3212del:p.Gln1071fs	coding	Pathogenic
5	112838817	TA	T	A112838818T	APC	NM_000038.6(APC):c.3224del:p.Tyr1075fs	coding	Pathogenic
5	112838831	TGA	T	A112838835C	APC	NM_000038.6(APC):c.3239_3240AG[1]:p.Ser1081fs	coding	Pathogenic
5	112838852	CCT	C	T112838854A	APC	NM_000038.6(APC):c.3260_3261del:p.Leu1087fs	coding	Pathogenic
5	112838857	AG	A	G112838858T	APC	NM_000038.6(APC):c.3264del:p.Lys1088fs	coding	Pathogenic
5	112838885	ATG	A	G112838889T	APC	NM_000038.6(APC):c.3293_3294GT[1]:p.Val1099fs	coding	Pathogenic
5	112838891	TTCTC	T	T112838892C	APC	NM_000038.6(APC):c.3298_3301del:p.Ser1100fs	coding	Pathogenic
5	112838893	C	CT	C112838895T	APC	NM_000038.6(APC):c.3300dup:p.Pro1101fs	coding	Pathogenic
5	112838927	AAC	A	C112838929A	APC	NM_000038.6(APC):c.3335_3336del:p.Thr1112fs	coding	Pathogenic
5	112838928	ACAAAT	A	A112838930G	APC	NM_000038.6(APC):c.3336_3340del:p.Asn1113fs	coding	Pathogenic
5	112838936	AG	A	G112838937T	APC	NM_000038.6(APC):c.3343del:p.Val1115fs	coding	Pathogenic
5	112838938	TG	T	G112838941T	APC	NM_000038.6(APC):c.3347del:p.Gly1116fs	coding	Pathogenic
5	112838957	TAATC	T	T112838960A	APC	NM_000038.6(APC):c.3366_3369del:p.Asn1122fs	coding	Pathogenic
5	112838967	G	GT	A112838969T	APC	NM_000038.6(APC):c.3374dup:p.Ser1126fs	coding	Pathogenic
5	112838977	CT	C	T112838980G	APC	NM_000038.6(APC):c.3386del:p.Leu1129fs	coding	Pathogenic
5	112838977	CTT	C	T112838979G	APC	NM_000038.6(APC):c.3385_3386del:p.Leu1129fs	coding	Pathogenic
5	112838996	CTA	C	A112838998G	APC	NM_000038.6(APC):c.3404_3405del:p.Asp1134_Tyr1135insTer	coding	Pathogenic
5	112839020	T	TTA	G112839025T	APC	NM_000038.6(APC):c.3427_3428TA[3]:p.Ser1144fs	coding	Pathogenic
5	112839034	ACT	A	C112839037G	APC	NM_000038.6(APC):c.3441_3442CT[1]:p.Tyr1147_Ser1148insTer	coding	Pathogenic
5	112839037	CTGAA	C	T112839038G	APC	NM_000038.6(APC):c.3444_3447del:p.Glu1149fs	coding	Pathogenic
5	112839053	TGAA	T	A112839062G	APC	NM_000038.6(APC):c.3462_3464AGA[2]:p.Glu1157del	coding	Benign/Likely_benign
5	112839055	AAGAAG	A	G112839057A	APC	NM_000038.6(APC):c.3463_3467del:p.Glu1155fs	coding	Pathogenic
5	112839060	GAAGA	G	A112839061G	APC	NM_000038.6(APC):c.3467_3470del:p.Glu1156fs	coding	Pathogenic
5	112839061	A	AAG	C112839069G	APC	NM_000038.6(APC):c.3469_3470GA[4]:p.Pro1159fs	coding	Pathogenic
5	112839061	AAG	A	G112839067C	APC	NM_000038.6(APC):c.3469_3470GA[2]:p.Arg1158fs	coding	Pathogenic
5	112839061	AAGAG	A	G112839065C	APC	NM_000038.6(APC):c.3469_3470GA[1]:p.Glu1157fs	coding	Pathogenic
5	112839065	G	GA	G112839067A	APC	NM_000038.6(APC):c.3472dup:p.Arg1158fs	coding	Pathogenic
5	112839067	G	GGA	A112839068G	APC	NM_000038.6(APC):c.3473_3474insGA:p.Pro1159fs	coding	Pathogenic
5	112839077	TTA	T	T112839080G	APC	NM_000038.6(APC):c.3484_3485TA[1]:p.Tyr1162_Ser1163delinsTer	coding	Pathogenic
5	112839078	TATAGC	T	G112839082A	APC	NM_000038.6(APC):c.3488_3492del:p.Ser1163fs	coding	Pathogenic
5	112839087	AAATAT	A	A112839091G	APC	NM_000038.6(APC):c.3497_3501del:p.Lys1165_Tyr1166insTer	coding	Pathogenic
5	112839119	GC	G	C112839121T	APC	NM_000038.6(APC):c.3527del:p.Pro1176fs	coding	Pathogenic
5	112839135	TTAAAA	T	A112839138T	APC	NM_000038.6(APC):c.3544_3548del:p.Lys1182fs	coding	Pathogenic
5	112839149	AGATAT	A	G112839150T	APC	NM_000038.6(APC):c.3556_3560del:p.Asp1186fs	coding	Pathogenic
5	112839160	C	CA	T112839162A	APC	NM_000038.6(APC):c.3567dup:p.Ser1190fs	coding	Pathogenic
5	112839169	AAC	A	C112839171G	APC	NM_000038.6(APC):c.3577_3578del:p.Gln1193fs	coding	Pathogenic
5	112839187	CAA	C	A112839189G	APC	NM_000038.6(APC):c.3595_3596del:p.Lys1199fs	coding	Pathogenic
5	112839187	C	CA	G112839191A	APC	NM_000038.6(APC):c.3596dup:p.Ser1200fs	coding	Pathogenic
5	112839197	ATCTG	A	T112839198G	APC	NM_000038.6(APC):c.3604_3607del:p.Ser1202fs	coding	Pathogenic
5	112839211	G	GT	A112839213T	APC	NM_000038.6(APC):c.3618dup:p.Lys1207Ter	coding	Pathogenic
5	112839222	CAT	C	A112839225G	APC	NM_000038.6(APC):c.3629_3630AT[1]:p.Met1211fs	coding	Pathogenic
5	112839263	T	TAA	T112839266A	APC	NM_000038.6(APC):c.3670_3671dup:p.Asn1224fs	coding	Pathogenic
5	112839300	GCA	G	C112839303G	APC	NM_000038.6(APC):c.3707_3708CA[1]:p.Gln1237fs	coding	Pathogenic
5	112839318	CA	C	A112839319G	APC	NM_000038.6(APC):c.3725del:p.Gln1242fs	coding	Pathogenic
5	112839324	CA	C	A112839328G	APC	NM_000038.6(APC):c.3734del:p.Lys1245fs	coding	Pathogenic
5	112839324	C	CA	G112839329A	APC	NM_000038.6(APC):c.3734dup:p.Ala1246fs	coding	Pathogenic
5	112839341	CAA	C	A112839343G	APC	NM_000038.6(APC):c.3749_3750del:p.Lys1250fs	coding	Pathogenic
5	112839349	CT	C	T112839351C	APC	NM_000038.6(APC):c.3757del:p.Ser1253fs	coding	Pathogenic
5	112839375	AC	A	C112839376T	APC	NM_000038.6(APC):c.3782del:p.Thr1261fs	coding	Pathogenic
5	112839376	CTT	C	T112839377A	APC	NM_000038.6(APC):c.3783_3784del:p.Tyr1262fs	coding	Pathogenic
5	112839378	T	TA	T112839380A	APC	NM_000038.6(APC):c.3785dup:p.Tyr1262Ter	coding	Pathogenic/Likely_pathogenic
5	112839379	ATT	A	T112839380G	APC	NM_000038.6(APC):c.3786_3787del:p.Tyr1262_Cys1263delinsTer	coding	Pathogenic
5	112839387	G	GCTT	A112839388C	APC	NM_000038.6(APC):c.3793_3794insCTT:p.Glu1265delinsAlaTer	coding	Pathogenic/Likely_pathogenic
5	112839397	C	CA	T112839400A	APC	NM_000038.6(APC):c.3805dup:p.Ile1269fs	coding	Pathogenic
5	112839398	AAT	A	A112839401G	APC	NM_000038.6(APC):c.3805_3806AT[1]:p.Ile1269fs	coding	Pathogenic
5	112839403	GT	G	T112839408C	APC	NM_000038.6(APC):c.3814del:p.Ser1272fs	coding	Pathogenic
5	112839421	CAT	A	C112839421A	APC	NM_000038.6(APC):c.3827_3829delinsA:p.Ser1276fs	coding	Pathogenic
5	112839430	CT	C	T112839433G	APC	NM_000038.6(APC):c.3839del:p.Leu1280fs	coding	Pathogenic
5	112839452	A	AATAGGATGTAATC	G112839467T	APC	NM_000038.6(APC):c.3860_3872dup:p.Gln1291delinsHisArgMetTer	coding	Pathogenic
5	112839454	T	TA	G112839456A	APC	NM_000038.6(APC):c.3861dup:p.Gly1288fs	coding	Pathogenic
5	112839470	G	GA	C112839472A	APC	NM_000038.6(APC):c.3877dup:p.Thr1293fs	coding	Pathogenic
5	112839484	A	AT	C112839487T	APC	NM_000038.6(APC):c.3892dup:p.Ser1298fs	coding	Pathogenic
5	112839494	T	TA	C112839496A	APC	NM_000038.6(APC):c.3901dup:p.Thr1301fs	coding	Pathogenic
5	112839495	AC	A	C112839498T	APC	NM_000038.6(APC):c.3904del:p.Leu1302fs	coding	Pathogenic
5	112839514	TAAAAG	T	A112839521T	APC	NM_000038.6(APC):c.3922_3926AAAGA[1]:p.Glu1309fs	coding	Pathogenic
5	112839514	TAAAA	T	A112839515G	APC	NM_000038.6(APC):c.3921_3924del:p.Ile1307fs	coding	Pathogenic
5	112839515	AAAAG	A	G112839519A	APC	NM_000038.6(APC):c.3925_3928del:p.Glu1309fs	coding	Pathogenic
5	112839527	TG	T	G112839529A	APC	NM_000038.6(APC):c.3935del:p.Gly1312fs	coding	Pathogenic
5	112839548	TC	T	C112839550T	APC	NM_000038.6(APC):c.3956del:p.Pro1319fs	coding	Pathogenic
5	112839586	G	GA	C112839589A	APC	NM_000038.6(APC):c.3994dup:p.Thr1332fs	coding	Pathogenic
5	112839602	A	ACT	G112839605C	APC	NM_000038.6(APC):c.4009_4010dup:p.Gln1338fs	coding	Pathogenic
5	112839616	G	GT	A112839620T	APC	NM_000038.6(APC):c.4025dup:p.Leu1342fs	coding	Pathogenic
5	112839620	A	AT	C112839622T	APC	NM_000038.6(APC):c.4027dup:p.Ser1343fs	coding	Pathogenic
5	112839620	ATC	A	C112839622T	APC	NM_000038.6(APC):c.4028_4029del:p.Ser1343fs	coding	Pathogenic
5	112839646	C	CTGTTGAATTT	C112839658G	APC	NM_000038.6(APC):c.4054_4063dup:p.Ser1355delinsCysTer	coding	Pathogenic
5	112839647	TG	T	G112839648T	APC	NM_000038.6(APC):c.4054del:p.Val1352fs	coding	Pathogenic
5	112839653	A	AG	T112839654G	APC	NM_000038.6(APC):c.4059_4060insG:p.Phe1354fs	coding	Pathogenic
5	112839654	T	AA	T112839654A	APC	NM_000038.6(APC):c.4060delinsAA:p.Phe1354fs	coding	Pathogenic
5	112839719	CTA	C	A112839721G	APC	NM_000038.6(APC):c.4127_4128del:p.Tyr1376fs	coding	Pathogenic
5	112839732	AC	A	C112839736A	APC	NM_000038.6(APC):c.4142del:p.Pro1381fs	coding	Pathogenic
5	112839734	C	CCGGT	C112839736G	APC	NM_000038.6(APC):c.4141_4142insGGTC:p.Pro1381fs	coding	Pathogenic
5	112839737	ACTCATGTTTAG	A	T112839739A	APC	NM_000038.6(APC):c.4145_4155del:p.Leu1382fs	coding	Pathogenic
5	112839760	C	CT	G112839762T	APC	NM_000038.6(APC):c.4167dup:p.Val1390fs	coding	Pathogenic
5	112839760	CT	C	T112839761G	APC	NM_000038.6(APC):c.4167del:p.Val1390fs	coding	Pathogenic
5	112839766	G	GTTCA	C112839771T	APC	NM_000038.6(APC):c.4173_4176dup:p.Leu1393fs	coding	Pathogenic
5	112839766	GT	G	T112839768C	APC	NM_000038.6(APC):c.4174del:p.Ser1392fs	coding	Pathogenic
5	112839771	C	CT	G112839774T	APC	NM_000038.6(APC):c.4179dup:p.Asp1394Ter	coding	Pathogenic
5	112839795	A	AT	G112839798T	APC	NM_000038.6(APC):c.4203dup:p.Ala1402fs	coding	Pathogenic
5	112839832	TG	T	G112839834T	APC	NM_000038.6(APC):c.4240del:p.Met1413_Val1414insTer	coding	Pathogenic
5	112839834	G	GT	A112839836T	APC	NM_000038.6(APC):c.4241dup:p.Ser1415fs	coding	Pathogenic
5	112839834	GT	G	T112839835A	APC	NM_000038.6(APC):c.4241del:p.Val1414fs	coding	Pathogenic
5	112839850	GC	G	C112839854A	APC	NM_000038.6(APC):c.4260del:p.Ser1421fs	coding	Pathogenic
5	112839882	AC	A	C112839884A	APC	NM_000038.6(APC):c.4290del:p.Met1431fs	coding	Pathogenic
5	112839898	GA	G	A112839900G	APC	NM_000038.6(APC):c.4306del:p.Ser1436fs	coding	Pathogenic
5	112839911	TC	T	C112839913A	APC	NM_000038.6(APC):c.4319del:p.Pro1440fs	coding	Pathogenic
5	112839919	CT	C	T112839920C	APC	NM_000038.6(APC):c.4326del:p.Pro1443fs	coding	Pathogenic
5	112839932	TC	T	C112839933A	APC	NM_000038.6(APC):c.4339del:p.Gln1447fs	coding	Pathogenic
5	112839945	GA	G	A112839947G	APC	NM_000038.6(APC):c.4353del:p.Val1452fs	coding	Pathogenic
5	112839951	CCTAAAA	AAT	C112839951A	APC	NM_000038.6(APC):c.4357_4363delinsAAT:p.Pro1453fs	coding	Pathogenic
5	112839957	AAT	GCTGA	A112839957G	APC	NM_000038.6(APC):c.4363_4365delinsGCTGA:p.Asn1455fs	coding	Pathogenic
5	112839959	TAA	T	A112839961G	APC	NM_000038.6(APC):c.4367_4368del:p.Lys1456fs	coding	Pathogenic
5	112839975	GAA	G	A112839978G	APC	NM_000038.6(APC):c.4384_4385del:p.Lys1462fs	coding	Pathogenic
5	112839978	AAG	A	A112839987T	APC	NM_000038.6(APC):c.4385_4386AG[4]:p.Ser1465fs	coding	Pathogenic
5	112839978	AAGAG	A	A112839985T	APC	NM_000038.6(APC):c.4385_4386AG[3]:p.Glu1464fs	coding	Pathogenic
5	112839982	G	GA	G112839984A	APC	NM_000038.6(APC):c.4389dup:p.Glu1464fs	coding	Pathogenic
5	112839989	TG	T	G112839991A	APC	NM_000038.6(APC):c.4397del:p.Gly1466fs	coding	Pathogenic
5	112839991	GA	G	A112839992C	APC	NM_000038.6(APC):c.4398del:p.Pro1467fs	coding	Pathogenic
5	112839998	GCAAGCTGCAGTAAA	C	G112839998C	APC	NM_000038.6(APC):c.4404_4418delinsC:p.Lys1468fs	coding	Pathogenic
5	112840054	C	CT	A112840058T	APC	NM_000038.6(APC):c.4463dup:p.Leu1488fs	coding	Pathogenic
5	112840054	CT	C	T112840057A	APC	NM_000038.6(APC):c.4463del:p.Leu1488fs	coding	Pathogenic
5	112840061	AC	A	C112840062A	APC	NM_000038.6(APC):c.4468del:p.His1490fs	coding	Pathogenic
5	112840063	A	AT	G112840068T	APC	NM_000038.6(APC):c.4473dup:p.Ala1492fs	coding	Pathogenic
5	112840067	TG	T	G112840068C	APC	NM_000038.6(APC):c.4474del:p.Ala1492fs	coding	Pathogenic
5	112840091	AT	A	T112840095C	APC	NM_000038.6(APC):c.4501del:p.Ser1501fs	coding	Pathogenic
5	112840101	TC	T	C112840102A	APC	NM_000038.6(APC):c.4508del:p.Ser1503fs	coding	Pathogenic/Likely_pathogenic
5	112840108	GC	G	C112840110T	APC	NM_000038.6(APC):c.4516del:p.Ser1505_Leu1506insTer	coding	Pathogenic
5	112840173	CCAGTT	C	T112840177G	APC	NM_000038.6(APC):c.4583_4587del:p.Val1528fs	coding	Pathogenic
5	112840182	G	GA	T112840187A	APC	NM_000038.6(APC):c.4592dup:p.Asn1531fs	coding	Pathogenic
5	112840196	G	GA	T112840199A	APC	NM_000038.6(APC):c.4604dup:p.Asn1535fs	coding	Pathogenic
5	112840200	G	GA	C112840204A	APC	NM_000038.6(APC):c.4609dup:p.Thr1537fs	coding	Pathogenic
5	112840204	CAG	C	G112840206A	APC	NM_000038.6(APC):c.4612_4613del:p.Glu1538fs	coding	Pathogenic
5	112840228	CAAATG	C	T112840232A	APC	NM_000038.6(APC):c.4638_4642del:p.Asn1546fs	coding	Pathogenic
5	112840231	ATG	A	T112840232A	APC	NM_000038.6(APC):c.4638_4639del:p.Asn1546fs	coding	Pathogenic
5	112840237	A	AC	A112840240C	APC	NM_000038.6(APC):c.4645dup:p.Gln1549fs	coding	Pathogenic
5	112840237	ACC	T	A112840237T	APC	NM_000038.6(APC):c.4643_4645delinsT:p.Asn1548fs	coding	Pathogenic
5	112840242	GAGAA	G	A112840246G	APC	NM_000038.6(APC):c.4652_4655del:p.Lys1551fs	coding	Pathogenic
5	112840246	AAG	A	A112840249G	APC	NM_000038.6(APC):c.4655_4656del:p.Glu1552fs	coding	Pathogenic
5	112840254	GA	G	A112840260C	APC	NM_000038.6(APC):c.4666del:p.Thr1556fs	coding	Pathogenic
5	112840261	CTA	C	A112840263T	APC	NM_000038.6(APC):c.4669_4670del:p.Thr1556_Ile1557insTer	coding	Pathogenic
5	112840263	AT	A	T112840265G	APC	NM_000038.6(APC):c.4671del:p.Ile1557fs	coding	Pathogenic
5	112840263	ATT	A	T112840264G	APC	NM_000038.6(APC):c.4670_4671del:p.Ile1557fs	coding	Pathogenic
5	112840272	GA	G	A112840276G	APC	NM_000038.6(APC):c.4682del:p.Lys1561fs	coding	Pathogenic
5	112840272	G	GA	G112840277A	APC	NM_000038.6(APC):c.4682dup:p.Asp1562fs	coding	Pathogenic
5	112840294	CA	C	A112840295G	APC	NM_000038.6(APC):c.4701del:p.Asp1568fs	coding	Pathogenic
5	112840299	GAT	G	A112840300G	APC	NM_000038.6(APC):c.4706_4707del:p.Asp1569fs	coding	Pathogenic
5	112840310	TG	T	G112840311A	APC	NM_000038.6(APC):c.4717del:p.Glu1573fs	coding	Pathogenic
5	112840325	ATG	A	G112840327A	APC	NM_000038.6(APC):c.4733_4734del:p.Cys1578fs	coding	Pathogenic
5	112840327	GTA	G	A112840329T	APC	NM_000038.6(APC):c.4735_4736del:p.Ile1579fs	coding	Pathogenic
5	112840329	A	AT	A112840332T	APC	NM_000038.6(APC):c.4737dup:p.Ile1580fs	coding	Pathogenic
5	112840336	CTGCCA	C	T112840342A	APC	NM_000038.6(APC):c.4743_4747TGCCA[1]:p.Met1583fs	coding	Pathogenic
5	112840361	TA	T	A112840364G	APC	NM_000038.6(APC):c.4770del:p.Ala1591fs	coding	Pathogenic
5	112840366	CA	C	A112840372G	APC	NM_000038.6(APC):c.4778del:p.Lys1593fs	coding	Pathogenic
5	112840371	AAGCC	A	A112840376C	APC	NM_000038.6(APC):c.4778_4781AGCC[1]:p.Ala1595fs	coding	Pathogenic
5	112840372	A	AT	G112840373T	APC	NM_000038.6(APC):c.4778_4779insT:p.Lys1593fs	coding	Pathogenic
5	112840387	CTTCAAAA	TGG	C112840387T	APC	NM_000038.6(APC):c.4793_4800delinsTGG:p.Ala1598fs	coding	Pathogenic/Likely_pathogenic
5	112840418	ACCA	TAC	A112840418T	APC	NM_000038.6(APC):c.4824_4827delinsTAC:p.Lys1608fs	coding	Pathogenic
5	112840441	A	AAC	T112840444A	APC	NM_000038.6(APC):c.4848_4849dup:p.Leu1617fs	coding	Pathogenic
5	112840467	CA	C	A112840469C	APC	NM_000038.6(APC):c.4875del:p.Gln1625fs	coding	Pathogenic
5	112840481	TGTTA	T	A112840485T	APC	NM_000038.6(APC):c.4891_4894del:p.Ser1631fs	coding	Pathogenic
5	112840482	GT	G	T112840484A	APC	NM_000038.6(APC):c.4890del:p.Ser1631fs	coding	Pathogenic
5	112840491	A	TG	A112840491T	APC	NM_000038.6(APC):c.4897delinsTG:p.Thr1633fs	coding	Pathogenic
5	112840493	AC	A	C112840495G	APC	NM_000038.6(APC):c.4901del:p.Pro1634fs	coding	Pathogenic
5	112840495	C	CG	A112840501G	APC	NM_000038.6(APC):c.4906dup:p.Asp1636fs	coding	Pathogenic
5	112840543	A	ACT	T112840546C	APC	NM_000038.6(APC):c.4950_4951dup:p.Phe1651fs	coding	Pathogenic
5	112840544	CTT	C	T112840547C	APC	NM_000038.6(APC):c.4953_4954del:p.Ser1652fs	coding	Pathogenic
5	112840563	C	CG	T112840564G	APC	NM_000038.6(APC):c.4969_4970insG:p.Leu1657fs	coding	Pathogenic
5	112840563	C	CT	A112840565T	APC	NM_000038.6(APC):c.4970dup:p.Ser1658fs	coding	Pathogenic
5	112840617	G	GT	A112840620T	APC	NM_000038.6(APC):c.5025dup:p.Arg1676Ter	coding	Pathogenic
5	112840658	T	TA	C112840660A	APC	NM_000038.6(APC):c.5065dup:p.Thr1689fs	coding	Pathogenic
5	112840738	AC	A	C112840739A	APC	NM_000038.6(APC):c.5145del:p.Asp1715fs	coding	Pathogenic
5	112840750	AG	A	G112840752A	APC	NM_000038.6(APC):c.5158del:p.Glu1720fs	coding	Pathogenic
5	112840775	CATTA	C	A112840779C	APC	NM_000038.6(APC):c.5185_5188del:p.Asn1729fs	coding	Pathogenic
5	112840819	GTGTGAAAAAGATAA	G	T112840822G	APC	NM_000038.6(APC):c.5228_5241del:p.Val1743fs	coding	Pathogenic
5	112840859	GTCT	ATCG	G112840859A	APC	NM_000038.6(APC):c.5265_5268delinsATCG:p.Ala1755_Ser1756=	coding	Benign
5	112840884	CAGTT	C	T112840887A	APC	NM_000038.6(APC):c.5293_5296del:p.Leu1765fs	coding	Pathogenic
5	112841081	TAATG	T	T112841084G	APC	NM_000038.6(APC):c.5490_5493del:p.Asn1830fs	coding	Pathogenic
5	112841099	AG	A	G112841101A	APC	NM_000038.6(APC):c.5507del:p.Gly1836fs	coding	Pathogenic
5	112841110	CT	C	T112841114G	APC	NM_000038.6(APC):c.5520del:p.Phe1840fs	coding	Pathogenic
5	112841116	AT	A	T112841118C	APC	NM_000038.6(APC):c.5524del:p.Ser1842fs	coding	Pathogenic
5	112841134	CG	C	G112841135C	APC	NM_000038.6(APC):c.5541del:p.Pro1848fs	coding	Pathogenic
5	112841155	AC	A	C112841156T	APC	NM_000038.6(APC):c.5562del:p.Cys1855fs	coding	Pathogenic
5	112841173	ATTCT	A	C112841176G	APC	NM_000038.6(APC):c.5582_5585del:p.Asp1860_Ser1861insTer	coding	Pathogenic
5	112841250	GAAAAT	G	A112841253G	APC	NM_000038.6(APC):c.5659_5663del:p.Asn1887fs	coding	Pathogenic/Likely_pathogenic
5	112841284	AC	A	C112841285A	APC	NM_000038.6(APC):c.5691del:p.His1897fs	coding	Pathogenic
5	112841350	AT	A	T112841351C	APC	NM_000038.6(APC):c.5757del:p.Arg1920fs	coding	Pathogenic
5	112841363	TA	T	A112841366C	APC	NM_000038.6(APC):c.5772del:p.Lys1924fs	coding	Pathogenic
5	112841369	CAT	C	T112841371C	APC	NM_000038.6(APC):c.5777_5778del:p.Ile1926fs	coding	Pathogenic
5	112841373	CT	C	T112841375C	APC	NM_000038.6(APC):c.5781del:p.Gln1928fs	coding	Pathogenic
5	112841389	CT	C	T112841393C	APC	NM_000038.6(APC):c.5799del:p.Gln1935fs	coding	Pathogenic
5	112841393	TC	T	C112841397A	APC	NM_000038.6(APC):c.5803del:p.Gln1935fs	coding	Pathogenic
5	112841397	C	CA	G112841399A	APC	NM_000038.6(APC):c.5804dup:p.Ser1936fs	coding	Pathogenic
5	112841405	CAA	C	A112841407G	APC	NM_000038.6(APC):c.5813_5814del:p.Lys1938fs	coding	Pathogenic
5	112841413	T	TA	C112841415A	APC	NM_000038.6(APC):c.5820dup:p.Pro1941fs	coding	Pathogenic
5	112841414	A	AC	A112841417C	APC	NM_000038.6(APC):c.5822dup:p.Asp1942fs	coding	Pathogenic
5	112841415	CCAGA	C	C112841420G	APC	NM_000038.6(APC):c.5822_5825CAGA[1]:p.Asp1942fs	coding	Pathogenic
5	112841420	C	CAA	G112841422A	APC	NM_000038.6(APC):c.5827_5828insAA:p.Arg1943fs	coding	Pathogenic
5	112841427	GC	G	C112841428A	APC	NM_000038.6(APC):c.5834del:p.Ala1945fs	coding	Pathogenic
5	112841431	CA	C	A112841433C	APC	NM_000038.6(APC):c.5839del:p.Thr1947fs	coding	Pathogenic
5	112841453	TTTTG	T	T112841454C	APC	NM_000038.6(APC):c.5860_5863del:p.Phe1954fs	coding	Pathogenic
5	112841510	CA	C	A112841511G	APC	NM_000038.6(APC):c.5917del:p.Ser1973fs	coding	Pathogenic
5	112841513	TG	T	G112841514A	APC	NM_000038.6(APC):c.5920del:p.Asp1974fs	coding	Pathogenic
5	112841526	GA	G	A112841530C	APC	NM_000038.6(APC):c.5936del:p.Asn1979fs	coding	Pathogenic
5	112841527	AAAAC	A	A112841530C	APC	NM_000038.6(APC):c.5936_5939del:p.Asn1979fs	coding	Pathogenic
5	112841534	CA	C	A112841536T	APC	NM_000038.6(APC):c.5942del:p.Asn1981fs	coding	Pathogenic
5	112841543	AAATG	A	T112841546C	APC	NM_000038.6(APC):c.5952_5955del:p.Glu1985fs	coding	Pathogenic/Likely_pathogenic
5	112841564	T	TGGCAGCATCTGATGAAAAGTTACAGAATTTTGCTATTGAAAATACTCCGGTTTGCTTTTCTCATAATTCCTCTCTGAGTTCTCTCAGTGACATTGACCAAGAAAACAACAATAAAGAAAATGAACCTATCAAAGAGACTG	A112841566G	APC	NM_000038.6(APC):c.5971_5972insGCAGCATCTGATGAAAAGTTACAGAATTTTGCTATTGAAAATACTCCGGTTTGCTTTTCTCATAATTCCTCTCTGAGTTCTCTCAGTGACATTGACCAAGAAAACAACAATAAAGAAAATGAACCTATCAAAGAGACTGG:p.Glu1991delinsGlySerIleTer	coding	Pathogenic
5	112841566	AG	A	G112841567C	APC	NM_000038.6(APC):c.5973del:p.Glu1991fs	coding	Pathogenic
5	112841567	GC	G	C112841572T	APC	NM_000038.6(APC):c.5978del:p.Pro1993fs	coding	Pathogenic
5	112841572	CT	C	T112841573G	APC	NM_000038.6(APC):c.5979del:p.Asp1994fs	coding	Pathogenic
5	112841579	AC	A	C112841580A	APC	NM_000038.6(APC):c.5986del:p.Gln1996fs	coding	Pathogenic
5	112841605	C	CTT	A112841606T	APC	NM_000038.6(APC):c.6011_6012insTT:p.Ser2005fs	coding	Pathogenic
5	112841643	AC	A	C112841647A	APC	NM_000038.6(APC):c.6053del:p.Pro2018fs	coding	Pathogenic
5	112841648	AGTTT	A	G112841653C	APC	NM_000038.6(APC):c.6055_6058GTTT[1]:p.Cys2020fs	coding	Pathogenic/Likely_pathogenic
5	112841682	CTTAG	C	T112841684A	APC	NM_000038.6(APC):c.6090_6093del:p.Ser2031fs	coding	Pathogenic
5	112841684	TA	T	A112841685G	APC	NM_000038.6(APC):c.6091del:p.Ser2031fs	coding	Pathogenic
5	112841692	ACT	A	C112841695G	APC	NM_000038.6(APC):c.6099_6100CT[1]:p.Asp2033_Ser2034insTer	coding	Pathogenic/Likely_pathogenic
5	112841715	GAATGTATAAGCTCCGC	G	T112841720C	APC	NM_000038.6(APC):c.6126_6141del:p.Ile2043fs	coding	Pathogenic
5	112841727	TC	T	C112841729G	APC	NM_000038.6(APC):c.6135del:p.Ala2046fs	coding	Pathogenic
5	112841730	GC	G	C112841731A	APC	NM_000038.6(APC):c.6137del:p.Ala2046fs	coding	Pathogenic
5	112841794	AT	A	T112841795A	APC	NM_000038.6(APC):c.6201del:p.Asn2067fs	coding	Pathogenic
5	112841841	ATAC	TGT	A112841841T	APC	NM_000038.6(APC):c.6247_6250delinsTGT:p.Ile2083fs	coding	Pathogenic
5	112841871	TC	T	C112841875T	APC	NM_000038.6(APC):c.6281del:p.Pro2094fs	coding	Pathogenic/Likely_pathogenic
5	112841964	TTATC	T	T112841967G	APC	NM_000038.6(APC):c.6373_6376del:p.Ser2125fs	coding	Pathogenic
5	112841973	CA	C	A112841975G	APC	NM_000038.6(APC):c.6381del:p.Ala2128fs	coding	Pathogenic
5	112841976	GC	G	C112841977T	APC	NM_000038.6(APC):c.6383del:p.Ala2128fs	coding	Pathogenic
5	112841983	CTG	C	T112841984A	APC	NM_000038.6(APC):c.6390_6391del:p.Asp2131fs	coding	Pathogenic
5	112842144	GAAAGT	G	T112842149G	APC	NM_000038.6(APC):c.6555_6559del:p.Ser2185fs	coding	Pathogenic
5	112842188	GATTACTGGAA	G	T112842190A	APC	NM_000038.6(APC):c.6596_6605del:p.Ile2199fs	coding	Pathogenic
5	112842216	GAAATT	G	A112842217T	APC	NM_000038.6(APC):c.6623_6627del:p.Glu2208fs	coding	Pathogenic
5	112842600	ATAAGTCCTCCTAACAAATTATCTCAACTTCCAAGGACATCATCCCCTAGTACTGCTTCAAC	A	C112842610A	APC	NM_000038.6(APC):c.7016_7076del:p.Pro2339fs	coding	Pathogenic
5	112842730	CCAAA	C	A112842737G	APC	NM_000038.6(APC):c.7139_7142AACA[1]:p.Thr2382fs	coding	Pathogenic/Likely_pathogenic
5	112842818	TG	T	G112842820A	APC	NM_000038.6(APC):c.7226del:p.Gly2409fs	coding	Pathogenic
5	112842861	AAATC	A	T112842864G	APC	NM_000038.6(APC):c.7270_7273del:p.Ser2424fs	coding	Pathogenic
5	112842985	CTCTT	C	T112842989C	APC	NM_000038.6(APC):c.7395_7398del:p.Ser2466fs	coding	Pathogenic
5	112843023	TC	T	C112843026A	APC	NM_000038.6(APC):c.7432del:p.Gln2478fs	coding	Pathogenic
5	112843067	GTC	G	C112843071A	APC	NM_000038.6(APC):c.7475_7476CT[1]:p.Leu2493fs	coding	Pathogenic/Likely_pathogenic
5	112843081	A	AT	C112843084T	APC	NM_000038.6(APC):c.7489dup:p.Ser2497fs	coding	Pathogenic
5	112843173	GAT	G	A112843176T	APC	NM_000038.6(APC):c.7580_7581AT[1]:p.Ile2528fs	coding	Pathogenic
5	112843284	T	TG	A112843287G	APC	NM_000038.6(APC):c.7692dup:p.Arg2565fs	coding	Pathogenic/Likely_pathogenic
5	112843337	TG	T	G112843338A	APC	NM_000038.6(APC):c.7744del:p.Glu2582fs	coding	Pathogenic
5	112843387	CCAAA	C	C112843392G	APC	NM_000038.6(APC):c.7794_7797CAAA[1]:p.Gln2600fs	coding	Pathogenic
5	112843392	CAAAGT	C	T112843397A	APC	NM_000038.6(APC):c.7803_7807del:p.Ser2601fs	coding	Pathogenic
5	112843434	AAAAT	A	T112843438A	APC	NM_000038.6(APC):c.7844_7847del:p.Ile2615fs	coding	Pathogenic
5	112843470	ACTTCTCAGACCGTTTC	A	T112843473C	APC	NM_000038.6(APC):c.7879_7894del:p.Ser2627fs	coding	Pathogenic
5	112843519	CTCTA	C	T112843520A	APC	NM_000038.6(APC):c.7926_7929del:p.Leu2643fs	coding	Pathogenic
5	112843521	CTAATT	C	A112843524T	APC	NM_000038.6(APC):c.7930_7934del:p.Ile2644fs	coding	Pathogenic
5	112843521	CTAATTT	TA	C112843521T	APC	NM_000038.6(APC):c.7927_7933delinsTA:p.Leu2643_Tyr2645delinsTer	coding	Pathogenic
5	112843523	AATTT	A	T112843526C	APC	NM_000038.6(APC):c.7932_7935del:p.Tyr2645fs	coding	Pathogenic
5	112843523	AATTTATC	A	T112843525A	APC	NM_000038.6(APC):c.7931_7937del:p.Ile2644fs	coding	Pathogenic/Likely_pathogenic
5	112843538	ACCTGCTGTTT	A	C112843540T	APC	NM_000038.6(APC):c.7946_7955del:p.Pro2649fs	coding	Pathogenic
5	112843550	TA	T	A112843554C	APC	NM_000038.6(APC):c.7960del:p.Thr2654fs	coding	Pathogenic
5	112843551	AAAAC	A	A112843553G	APC	NM_000038.6(APC):c.7959_7962del:p.Thr2654fs	coding	Pathogenic
5	112843640	GA	G	A112843641T	APC	NM_000038.6(APC):c.8047del:p.Ile2683fs	coding	Pathogenic
5	112844531	C	CA	T112844541A	APC	NM_000038.6(APC):c.*414dup	noncoding	Benign
5	113071088	G	GCCTCGCGCTGTCTT	A113071092C	MCC	NM_001085377.2(MCC):c.1925+5_1925+6insAGGAAGACAGCGCG	noncoding	Benign
5	113488327	C	CGCT	C113488348T	MCC	NM_001085377.2(MCC):c.70_72AGC[7]:p.Ser29dup	coding	Benign
5	114362934	T	TGCC	T114362949C	KCNN2	NM_021614.4(KCNN2):c.798_800CGC[5]:p.Ala270dup	coding	Benign
5	114404651	CTCTA	C	A114404655G	KCNN2	NM_021614.4(KCNN2):c.1436_1439del:p.Leu478_Tyr479insTer	coding	Pathogenic
5	114404814	CATT	C	T114404817G	KCNN2	NM_021614.4(KCNN2):c.1598_1600del:p.Leu533del	coding	Pathogenic/Likely_pathogenic
5	119165286	TA	T	A119165304G	DMXL1	NM_005509.6(DMXL1):c.4970+24del	noncoding	Benign
5	119193899	CAAT	C	A119193900G	DMXL1	NM_005509.6(DMXL1):c.7387_7389del:p.Asn2463del	coding	Benign
5	119475727	GGTGA	G	G119475730A	HSD17B4	NM_000414.4(HSD17B4):c.302+3_302+6del	coding	Pathogenic
5	119477488	CAG	C	G119477490A	HSD17B4	NM_000414.4(HSD17B4):c.423_424del:p.Lys142fs	coding	Pathogenic
5	119493945	AG	A	G119493947T	HSD17B4	NM_000414.4(HSD17B4):c.868+1del	coding	Pathogenic/Likely_pathogenic
5	119496608	CAT	C	T119496610C	HSD17B4	NM_000414.4(HSD17B4):c.936_937del:p.His312_Thr313insTer	coding	Pathogenic/Likely_pathogenic
5	119499314	TAGGCTGGAGCTATTGGCCAGAAACTCCCTCCATTTTCTTATGCTTATACGGAACTGGAAGCTATTATGTATGCCCTTGGAGTGGGAGCGTCAATCAAGGATCCAAAAGATTTGAAATTTATTTATGAAGGAAGTTCTGATTTCTCCTGTTTGCCCACCTTCGGAGTTATCATAGGTCAGAAATCTATGATGGGTGGAGGATTAGCAGAAATTCCTGGACTTTCAATCAACTTTGCAA	T	C119499318T	HSD17B4	NM_000414.4(HSD17B4):c.974_1209+1del	noncoding	Pathogenic
5	119502038	TAGGTTCTTCATGGAGAGCAGTACTTAGAGTTATATAAACCACTTCCCAGAGC	T	T119502043G	HSD17B4	NM_000414.4(HSD17B4):c.1212_1261+2del	noncoding	Pathogenic
5	119509157	GA	G	A119509159G	HSD17B4	NM_000414.4(HSD17B4):c.1352del:p.Lys451fs	coding	Pathogenic
5	119525917	GT	G	T119525921G	HSD17B4	NM_000414.4(HSD17B4):c.1578del:p.Phe526fs	coding	Pathogenic
5	119525970	C	CGTGT	T119525977G	HSD17B4	NM_000414.4(HSD17B4):c.1628_1629GT[5]:p.Leu545fs	coding	Pathogenic/Likely_pathogenic
5	119525998	A	ATG	C119526004G	HSD17B4	NM_000414.4(HSD17B4):c.1659_1660dup:p.Ser554fs	coding	Pathogenic
5	119527148	CCAGTAT	AA	C119527148A	HSD17B4	NM_000414.4(HSD17B4):c.1696_1702delinsAA:p.Pro566fs	coding	Pathogenic
5	119527166	ACT	A	C119527169A	HSD17B4	NM_000414.4(HSD17B4):c.1715_1716CT[1]:p.Leu573fs	coding	Pathogenic/Likely_pathogenic
5	119542238	T	TA	T119542245A	HSD17B4	NM_000414.4(HSD17B4):c.*250dup	noncoding	Benign
5	123090181	C	CG	C123090182G	PRDM6	NM_001136239.4(PRDM6):c.167_168insG:p.Pro58fs	coding	Benign
5	123090276	A	ACCTCCGCCT	T123090300G	PRDM6	NM_001136239.4(PRDM6):c.268_276GCCTCCTCC[3]:p.90_92ASS[3]	coding	Benign
5	123386675	T	TAAAAAAAAAAAA	T123386676A	CEP120	NM_001375405.1(CEP120):c.1431-9_1431-8insTTTTTTTTTTTT	noncoding	Benign
5	123386675	T	TAAA	T123386676A	CEP120	NM_001375405.1(CEP120):c.1431-9_1431-8insTTT	noncoding	Benign
5	123386675	TTA	T	T123386676A	CEP120	NM_153223.3(CEP120):c.1431-10_1431-9del	noncoding	Benign
5	123390040	G	GT	A123390041T	CEP120	NM_153223.3(CEP120):c.1138_1139insA:p.Ser380fs	coding	Pathogenic
5	126541967	G	GA	G126541979A	ALDH7A1	NM_001182.5(ALDH7A1):c.*2997dup	noncoding	Benign
5	126543262	CA	C	A126543270T	ALDH7A1	NM_001182.5(ALDH7A1):c.*1702del	noncoding	Benign
5	126544987	GC	G	C126544989A	ALDH7A1	NM_001182.5(ALDH7A1):c.1597del:p.Ala533fs	coding	Pathogenic
5	126549949	GC	G	C126549953A	ALDH7A1	NM_001182.5(ALDH7A1):c.1468del:p.Ala490fs	coding	Pathogenic
5	126552035	CAT	C	T126552037G	ALDH7A1	NM_001182.5(ALDH7A1):c.1301_1302del:p.Tyr434fs	coding	Pathogenic/Likely_pathogenic
5	126559300	T	TG	A126559303G	ALDH7A1	NM_001182.5(ALDH7A1):c.947dup:p.Ser317fs	coding	Pathogenic
5	126561093	ATT	A	T126561094G	ALDH7A1	NM_001182.5(ALDH7A1):c.901_902del:p.Asn301fs	coding	Pathogenic
5	126575464	CCTT	C	C126575465A	ALDH7A1	NM_001182.5(ALDH7A1):c.651-3_651-1del	coding	Pathogenic
5	126577186	CTGCTCAATCAG	C	T126577190A	ALDH7A1	NM_001182.5(ALDH7A1):c.532_542del:p.Leu178fs	coding	Pathogenic
5	126577320	GT	G	T126577321G	ALDH7A1	NM_001182.5(ALDH7A1):c.518-110del	noncoding	Benign
5	126582861	CAAGA	C	A126582862T	ALDH7A1	NM_001182.5(ALDH7A1):c.503_506del:p.Ile168fs	coding	Pathogenic
5	126593308	AACAC	A	A126593341T	ALDH7A1	NM_001182.5(ALDH7A1):c.246+7GT[16]	noncoding	Benign
5	126595006	C	CCT	C126595012T	ALDH7A1	NM_001182.5(ALDH7A1):c.189_190AG[3]:p.Val65fs	coding	Pathogenic
5	126595106	AGT	A	T126595108G	ALDH7A1	NM_001182.5(ALDH7A1):c.91_92del:p.Thr31fs	coding	Pathogenic
5	126805697	G	GTAAC	T126805704A	LMNB1	NM_005573.4(LMNB1):c.642+4_642+7dup	noncoding	Benign
5	127339201	G	ACATTC	G127339201A	MEGF10	NM_001256545.2(MEGF10):c.198delinsACATTC:p.Trp66Ter	coding	Pathogenic
5	127340196	T	TGA	C127340201G	MEGF10	NM_001256545.2(MEGF10):c.219-333GA[3]	noncoding	Benign
5	127419135	AC	A	C127419139A	MEGF10	NM_001256545.2(MEGF10):c.1325del:p.Pro442fs	coding	Pathogenic
5	127420173	GA	G	A127420174T	MEGF10	NM_001256545.2(MEGF10):c.1557del:p.Trp520fs	coding	Pathogenic
5	128084508	T	TG	C128084510G	SLC12A2	NM_001046.3(SLC12A2):c.555dup:p.His186fs	coding	Pathogenic
5	128138616	CT	C	T128138619G	SLC12A2	NM_001046.3(SLC12A2):c.1431del:p.Phe477fs	coding	Pathogenic
5	128274648	GGCAGTTAT	G	A128274651T	FBN2	NM_001999.4(FBN2):c.7622_7629del:p.His2541fs	coding	Pathogenic
5	128305090	AG	A	G128305091A	FBN2	NM_001999.4(FBN2):c.5675-9del	noncoding	Benign
5	129461622	T	TCCCGGC	A129461638G	ADAMTS19	NM_133638.5(ADAMTS19):c.616_621GGCCCC[3]:p.206_207GP[3]	coding	Benign
5	131162635	ATG	A	G131162639T	HINT1	NM_005340.7(HINT1):c.149_150CA[1]:p.His51fs	coding	Pathogenic
5	131165089	A	AG	C131165090G	HINT1	NM_005340.7(HINT1):c.111+5_111+6insC	coding	Benign
5	131180109	TA	T	A131180113C	LYRM7	NM_181705.4(LYRM7):c.37del:p.Thr13fs	coding	Pathogenic
5	131187053	A	AATT	C131187061T	LYRM7	NM_181705.4(LYRM7):c.190_192TTA[3]:p.Leu66dup	coding	Pathogenic
5	131187113	A	AG	T131187115G	LYRM7	NM_181705.4(LYRM7):c.244+5dup	noncoding	Pathogenic
5	131187115	TA	T	A131187119T	LYRM7	NM_181705.4(LYRM7):c.244+10del	noncoding	Benign
5	132198223	CCA	C	A132198227G	P4HA2	NM_001017974.2(P4HA2):c.1365+96_1365+97del	coding	Pathogenic
5	132369895	CG	TA	C132369895T	SLC22A5	NM_003060.4(SLC22A5):c.-78_-77delinsTA	noncoding	Benign
5	132370028	GC	CT	G132370028C	SLC22A5	NM_003060.4(SLC22A5):c.56_57delinsCT:p.Arg19Pro	coding	Pathogenic
5	132370033	ATCT	A	T132370039C	SLC22A5	NM_003060.4(SLC22A5):c.64_66TTC[1]:p.Phe23del	coding	Pathogenic
5	132370042	CT	C	T132370043G	SLC22A5	NM_003060.4(SLC22A5):c.71del:p.Leu24fs	coding	Pathogenic
5	132370119	CT	C	T132370120G	SLC22A5	NM_003060.4(SLC22A5):c.148del:p.Cys50fs	coding	Pathogenic/Likely_pathogenic
5	132370127	T	TGCCGGAC	C132370139G	SLC22A5	NM_003060.4(SLC22A5):c.160_166dup:p.Ala56fs	coding	Pathogenic/Likely_pathogenic
5	132370179	G	GCGGCTGCGGGA	C132370195T	SLC22A5	NM_003060.4(SLC22A5):c.212_222dup:p.Arg75fs	coding	Pathogenic
5	132370203	GC	G	C132370207A	SLC22A5	NM_003060.4(SLC22A5):c.235del:p.His79fs	coding	Pathogenic
5	132370222	T	TACCGGCTCGCC	A132370237G	SLC22A5	NM_003060.4(SLC22A5):c.254_264dup:p.Ile89fs	coding	Pathogenic
5	132378438	GGT	G	T132378442C	SLC22A5	NM_003060.4(SLC22A5):c.456_457TG[1]:p.Val153fs	coding	Pathogenic
5	132384245	T	TG	T132384247G	SLC22A5	NM_003060.4(SLC22A5):c.597dup:p.Phe200fs	coding	Pathogenic
5	132385327	G	GGTATGGCCATCAGGTTGGA	G132385329T	SLC22A5	NM_003060.4(SLC22A5):c.653_654insTATGGCCATCAGGTTGGAG:p.Thr219fs	coding	Pathogenic
5	132385428	CT	C	T132385430C	SLC22A5	NM_003060.4(SLC22A5):c.755del:p.Phe252fs	coding	Pathogenic
5	132385480	CT	C	T132385481A	SLC22A5	NM_003060.4(SLC22A5):c.806del:p.Leu269fs	coding	Pathogenic/Likely_pathogenic
5	132387038	TC	T	C132387044G	SLC22A5	NM_003060.4(SLC22A5):c.844del:p.Arg282fs	coding	Pathogenic
5	132387044	C	CG	A132387046G	SLC22A5	NM_003060.4(SLC22A5):c.845dup:p.Trp283fs	coding	Pathogenic
5	132387080	GA	G	A132387081G	SLC22A5	NM_003060.4(SLC22A5):c.881del:p.Glu294fs	coding	Pathogenic
5	132390687	CA	TC	C132390687T	SLC22A5	NM_003060.4(SLC22A5):c.1053-3_1053-2delinsTC	noncoding	Pathogenic
5	132390696	C	CA	T132390698A	SLC22A5	NM_003060.4(SLC22A5):c.1060dup:p.Ile354fs	coding	Pathogenic
5	132390794	CA	C	A132390795T	SLC22A5	NM_003060.4(SLC22A5):c.1158del:p.Tyr387fs	coding	Pathogenic
5	132390809	GGCT	G	T132390818A	SLC22A5	NM_003060.4(SLC22A5):c.1175_1177TGC[2]:p.Leu394del	coding	Pathogenic/Likely_pathogenic
5	132390838	T	TA	T132390840A	SLC22A5	NM_003060.3(SLC22A5):c.1202dupA:p.Tyr401Terfs	coding	Pathogenic/Likely_pathogenic
5	132392393	GT	G	T132392395G	SLC22A5	NM_003060.4(SLC22A5):c.1268-38del	noncoding	Benign
5	132392466	TG	T	G132392469C	SLC22A5	NM_003060.4(SLC22A5):c.1304del:p.Gly435fs	coding	Pathogenic
5	132392489	GC	AT	G132392489A	SLC22A5	NM_003060.4(SLC22A5):c.1324_1325delinsAT:p.Ala442Ile	coding	Pathogenic
5	132392527	T	TC	A132392531C	SLC22A5	NM_003060.4(SLC22A5):c.1365dup:p.Thr456fs	coding	Pathogenic
5	132393778	CA	C	A132393779G	SLC22A5	NM_003060.4(SLC22A5):c.1554del:p.Asp519fs	coding	Pathogenic/Likely_pathogenic
5	132393780	G	GACAC	C132393785A	SLC22A5	NM_003060.4(SLC22A5):c.1556_1557AC[4]:p.Ile521fs	coding	Pathogenic/Likely_pathogenic
5	132394188	G	GAAACACAGAA	T132394203A	SLC22A5	NM_003060.4(SLC22A5):c.1595_1604dup:p.Pro536fs	coding	Pathogenic
5	132394360	CA	C	A132394364G	SLC22A5	NM_003060.4(SLC22A5):c.*92del	noncoding	Benign
5	132557394	AT	A	T132557396A	RAD50	NM_005732.4(RAD50):c.72del:p.Ile25fs	coding	Pathogenic
5	132557417	T	TA	C132557419A	RAD50	NM_005732.4(RAD50):c.94dup:p.Thr32fs	coding	Pathogenic
5	132557452	CG	C	G132557454T	RAD50	NM_005732.4(RAD50):c.129+1del	coding	Pathogenic
5	132559307	TA	T	A132559308T	RAD50	NM_005732.4(RAD50):c.154del:p.Ile52fs	coding	Pathogenic
5	132575844	TA	T	A132575845G	RAD50	NM_005732.4(RAD50):c.282del:p.Ile94fs	coding	Pathogenic
5	132575885	AAGAC	A	C132575889A	RAD50	NM_005732.4(RAD50):c.326_329del:p.Thr109fs	coding	Pathogenic/Likely_pathogenic
5	132575915	AT	A	T132575917A	RAD50	NM_005732.4(RAD50):c.354del:p.Thr119fs	coding	Pathogenic
5	132579327	AAGGTC	A	G132579330T	RAD50	NM_005732.4(RAD50):c.379_383del:p.Val127fs	coding	Pathogenic
5	132579343	C	CT	A132579345T	RAD50	NM_005732.4(RAD50):c.393dup:p.Lys132Ter	coding	Pathogenic
5	132579343	C	CTT	A132579345T	RAD50	NM_005732.4(RAD50):c.393_394insTT:p.Lys132fs	coding	Pathogenic
5	132579346	AGT	A	T132579350C	RAD50	NM_005732.4(RAD50):c.397_398TG[1]:p.Ala134fs	coding	Pathogenic
5	132579360	GAC	G	A132579361C	RAD50	NM_005732.4(RAD50):c.410_411del:p.Asp137fs	coding	Pathogenic
5	132579373	TC	T	C132579374A	RAD50	NM_005732.4(RAD50):c.423del:p.Ser142fs	coding	Pathogenic
5	132579402	C	CTA	A132579405T	RAD50	NM_005732.4(RAD50):c.452_453dup:p.Asn152Ter	coding	Pathogenic
5	132579425	TCAAGAAGAT	AA	T132579425A	RAD50	NM_005732.4(RAD50):c.474_483delinsAA:p.His158fs	coding	Pathogenic
5	132579486	A	AT	C132579493T	RAD50	NM_005732.4(RAD50):c.541dup:p.Ser181fs	coding	Pathogenic
5	132579492	TC	A	T132579492A	RAD50	NM_005732.4(RAD50):c.541_542delinsA:p.Ser181fs	coding	Pathogenic
5	132579868	T	TA	G132579872A	RAD50	NM_005732.4(RAD50):c.561dup:p.Ala188fs	coding	Pathogenic/Likely_pathogenic
5	132579884	CT	C	T132579886C	RAD50	NM_005732.4(RAD50):c.576del:p.Arg193fs	coding	Pathogenic
5	132579933	T	TGGAA	C132579938G	RAD50	NM_005732.4(RAD50):c.624_627dup:p.Leu210fs	coding	Pathogenic
5	132579957	AT	A	T132579958A	RAD50	NM_005732.4(RAD50):c.648del:p.Gln215_Tyr216insTer	coding	Pathogenic
5	132579996	GT	G	T132579997A	RAD50	NM_005732.4(RAD50):c.687del:p.Ser229fs	coding	Pathogenic/Likely_pathogenic
5	132579997	TA	T	A132579999G	RAD50	NM_005732.4(RAD50):c.689del:p.Lys230fs	coding	Pathogenic
5	132580023	AG	A	G132580025A	RAD50	NM_005732.4(RAD50):c.715del:p.Glu239fs	coding	Pathogenic
5	132580039	CTA	C	A132580041G	RAD50	NM_005732.4(RAD50):c.731_732del:p.Ser243_Tyr244insTer	coding	Pathogenic
5	132580071	CT	C	T132580073G	RAD50	NM_005732.4(RAD50):c.756+7del	noncoding	Benign/Likely_benign
5	132587566	G	GTCTA	A132587571T	RAD50	NM_005732.4(RAD50):c.762_765dup:p.Lys256fs	coding	Pathogenic
5	132587932	AG	A	G132587935A	RAD50	NM_005732.4(RAD50):c.897del:p.Thr300fs	coding	Pathogenic
5	132588001	AT	A	T132588003G	RAD50	NM_005732.4(RAD50):c.965del:p.Leu322fs	coding	Pathogenic
5	132588032	CTAAA	C	T132588037G	RAD50	NM_005732.4(RAD50):c.995_998TAAA[1]:p.Asn333fs	coding	Pathogenic
5	132588037	TAAAG	T	A132588040T	RAD50	NM_005732.4(RAD50):c.1002_1005del:p.Lys334fs	coding	Pathogenic
5	132588054	T	TC	A132588056C	RAD50	NM_005732.4(RAD50):c.1017dup:p.Asn340fs	coding	Pathogenic
5	132588744	TA	T	A132588746T	RAD50	NM_005732.4(RAD50):c.1111del:p.Ile371fs	coding	Pathogenic
5	132588802	TGA	T	G132588803A	RAD50	NM_005732.4(RAD50):c.1168_1169del:p.Glu390fs	coding	Pathogenic
5	132588805	AAGAC	A	C132588809T	RAD50	NM_005732.4(RAD50):c.1174_1177del:p.Gln392fs	coding	Pathogenic/Likely_pathogenic
5	132588808	AC	A	C132588809A	RAD50	NM_005732.4(RAD50):c.1174del:p.Gln392fs	coding	Pathogenic
5	132588819	A	AT	C132588824T	RAD50	NM_005732.4(RAD50):c.1188dup:p.His397fs	coding	Pathogenic
5	132588823	TC	T	C132588824A	RAD50	NM_005732.4(RAD50):c.1189del:p.His397fs	coding	Pathogenic
5	132588826	CA	C	A132588829C	RAD50	NM_005732.4(RAD50):c.1194del:p.Lys398fs	coding	Pathogenic
5	132588834	TGAGA	T	G132588841C	RAD50	NM_005732.4(RAD50):c.1200_1201GA[3]:p.Glu402fs	coding	Pathogenic
5	132588834	T	TGA	C132588845G	RAD50	NM_005732.4(RAD50):c.1200_1201GA[6]:p.Gln404fs	coding	Pathogenic
5	132588872	CAACT	C	A132588873G	RAD50	NM_005732.4(RAD50):c.1238_1241del:p.Gln413fs	coding	Pathogenic
5	132589636	CTT	C	T132589638G	RAD50	NM_005732.4(RAD50):c.1253_1254del:p.Phe418fs	coding	Pathogenic
5	132589643	GA	G	A132589648G	RAD50	NM_005732.4(RAD50):c.1263del:p.Glu422fs	coding	Pathogenic
5	132589652	ACT	A	C132589655G	RAD50	NM_005732.4(RAD50):c.1268_1269CT[1]:p.Leu424fs	coding	Pathogenic
5	132589655	CTG	C	T132589656A	RAD50	NM_005732.4(RAD50):c.1271_1272del:p.Leu424fs	coding	Pathogenic
5	132589667	CAGAT	C	A132589672G	RAD50	NM_005732.4(RAD50):c.1283_1286AGAT[1]:p.Ile429fs	coding	Pathogenic
5	132589671	TAGATG	T	G132589676A	RAD50	NM_005732.4(RAD50):c.1291_1295del:p.Glu431fs	coding	Pathogenic
5	132589675	TGAGATAA	T	G132589685A	RAD50	NM_005732.4(RAD50):c.1293_1299GATAAGA[1]:p.Asp434fs	coding	Pathogenic
5	132589675	T	TGAGATAA	A132589692G	RAD50	NM_005732.4(RAD50):c.1293_1299GATAAGA[3]:p.Lys436delinsArgTer	coding	Pathogenic
5	132589676	GAGATA	G	T132589680G	RAD50	NM_005732.4(RAD50):c.1295_1299del:p.Ile432fs	coding	Pathogenic
5	132589695	CTG	C	T132589696G	RAD50	NM_005732.4(RAD50):c.1311_1312del:p.Gly438fs	coding	Pathogenic
5	132589733	CTAAG	C	T132589738A	RAD50	NM_005732.4(RAD50):c.1349_1352TAAG[1]:p.Ser451fs	coding	Pathogenic
5	132589756	GA	G	A132589761T	RAD50	NM_005732.4(RAD50):c.1376del:p.Asn459fs	coding	Pathogenic
5	132589774	A	AT	A132589777T	RAD50	NM_005732.4(RAD50):c.1391dup:p.Leu464fs	coding	Pathogenic
5	132589816	G	GGA	C132589819G	RAD50	NM_005732.4(RAD50):c.1432_1433dup:p.Asp478fs	coding	Pathogenic
5	132589830	T	AACTTACC	T132589830A	RAD50	NM_005732.4(RAD50):c.1445delinsAACTTACC:p.Ile482fs	coding	Pathogenic
5	132591285	TAA	T	A132591286G	RAD50	NM_005732.4(RAD50):c.1515_1516del:p.Ile505fs	coding	Pathogenic
5	132591312	TAGAC	T	A132591315G	RAD50	NM_005732.4(RAD50):c.1544_1547del:p.Asp515fs	coding	Pathogenic
5	132591390	T	TGA	C132591392A	RAD50	NM_005732.4(RAD50):c.1620_1621insAG:p.Leu541fs	coding	Pathogenic
5	132591858	AT	A	T132591868A	RAD50	NM_005732.4(RAD50):c.1636-9del	noncoding	Benign
5	132591888	T	TGAAC	A132591893G	RAD50	NM_005732.4(RAD50):c.1648_1651dup:p.Gln551fs	coding	Pathogenic
5	132591944	GA	G	A132591945T	RAD50	NM_005732.4(RAD50):c.1704del:p.Tyr569fs	coding	Pathogenic
5	132591957	C	CA	C132591964A	RAD50	NM_005732.4(RAD50):c.1722dup:p.Gln575fs	coding	Pathogenic
5	132592012	AG	A	G132592015A	RAD50	NM_005732.4(RAD50):c.1774del:p.Asp592fs	coding	Pathogenic
5	132594893	GAATAAAAATCATATAAATAATGAACTAAA	G	T132594896G	RAD50	NM_005732.4(RAD50):c.1821_1849del:p.Asn607fs	coding	Pathogenic
5	132594896	T	TA	T132594902A	RAD50	NM_005732.4(RAD50):c.1826dup:p.Asn609fs	coding	Pathogenic
5	132594920	AAAAAG	A	A132594924G	RAD50	NM_005732.4(RAD50):c.1849_1853del:p.Arg617fs	coding	Pathogenic
5	132594921	AAAAG	A	A132594926G	RAD50	NM_005732.4(RAD50):c.1847_1850AAAG[1]:p.Glu619fs	coding	Pathogenic
5	132594924	AG	A	G132594925A	RAD50	NM_005732.4(RAD50):c.1850del:p.Arg617fs	coding	Pathogenic
5	132595023	GA	G	A132595028T	RAD50	NM_005732.4(RAD50):c.1953del:p.Lys651fs	coding	Pathogenic
5	132595570	T	TAGCC	T132595576G	RAD50	NM_005732.4(RAD50):c.1970-1_1972dup	noncoding	Pathogenic
5	132595634	C	CCAGT	T132595641G	RAD50	NM_005732.4(RAD50):c.2034_2037dup:p.Cys680fs	coding	Pathogenic
5	132595635	C	CAG	T132595638A	RAD50	NM_005732.4(RAD50):c.2033_2034dup:p.Cys680fs	coding	Pathogenic
5	132595656	CAG	C	A132595661T	RAD50	NM_005732.4(RAD50):c.2054_2055AG[2]:p.Arg686fs	coding	Pathogenic
5	132595656	C	CA	G132595658A	RAD50	NM_005732.4(RAD50):c.2054dup:p.Arg686fs	coding	Pathogenic
5	132595672	CAG	C	A132595675G	RAD50	NM_005732.4(RAD50):c.2072_2073del:p.Glu691fs	coding	Pathogenic
5	132595758	C	CT	A132595760T	RAD50	NM_005732.3(RAD50):c.2156dupT:p.Glu723Glyfs*5	coding	Pathogenic
5	132595759	TA	T	A132595768G	RAD50	NM_005732.4(RAD50):c.2165del:p.Lys722fs	coding	Pathogenic
5	132595759	T	TA	G132595769A	RAD50	NM_005732.4(RAD50):c.2165dup:p.Glu723fs	coding	Pathogenic
5	132595768	A	AT	G132595769T	RAD50	NM_005732.4(RAD50):c.2165_2166insT:p.Lys722fs	coding	Pathogenic
5	132595793	GG	CT	G132595793C	RAD50	NM_005732.4(RAD50):c.2190_2191delinsCT:p.Gly731Ter	coding	Pathogenic
5	132595802	GC	G	C132595805A	RAD50	NM_005732.4(RAD50):c.2202del:p.Pro734_Met735insTer	coding	Pathogenic
5	132603350	AACTGCAG	A	C132603352A	RAD50	NM_005732.4(RAD50):c.2260_2266del:p.Leu754fs	coding	Pathogenic
5	132603384	AAAGAACGACATAG	A	G132603391A	RAD50	NM_005732.4(RAD50):c.2299_2311del:p.Asp767fs	coding	Pathogenic
5	132603405	AG	A	G132603406A	RAD50	NM_005732.4(RAD50):c.2314del:p.Glu772fs	coding	Pathogenic
5	132603452	TA	T	A132603453T	RAD50	NM_005732.4(RAD50):c.2361del:p.Cys788fs	coding	Pathogenic
5	132604019	CAA	C	A132604020G	RAD50	NM_005732.4(RAD50):c.2498_2499del:p.Gln833fs	coding	Pathogenic
5	132604038	T	TA	G132604040A	RAD50	NM_005732.4(RAD50):c.2517dup:p.Asp840fs	coding	Pathogenic
5	132604813	T	TA	G132604816A	RAD50	NM_005732.4(RAD50):c.2534dup:p.Ile846fs	coding	Pathogenic
5	132604987	CA	C	A132604988G	RAD50	NM_005732.4(RAD50):c.2707del:p.Arg903fs	coding	Pathogenic
5	132608628	AG	A	G132608630T	RAD50	NM_005732.4(RAD50):c.2734del:p.Gln911_Val912insTer	coding	Pathogenic
5	132608637	C	CT	G132608641T	RAD50	NM_005732.4(RAD50):c.2744dup:p.Leu915fs	coding	Pathogenic
5	132608680	A	AT	A132608683T	RAD50	NM_005732.4(RAD50):c.2786dup:p.Leu929fs	coding	Pathogenic
5	132608682	TAATC	T	T132608685C	RAD50	NM_005732.4(RAD50):c.2789_2792del:p.Ile930fs	coding	Pathogenic
5	132608686	CA	C	A132608688C	RAD50	NM_005732.4(RAD50):c.2792del:p.Asn931fs	coding	Pathogenic
5	132608689	CA	C	A132608697T	RAD50	NM_005732.4(RAD50):c.2801del:p.Asn934fs	coding	Pathogenic
5	132608689	C	CA	T132608698A	RAD50	NM_005732.4(RAD50):c.2801dup:p.Asn934fs	coding	Pathogenic
5	132609146	TATTC	T	T132609149G	RAD50	NM_005732.4(RAD50):c.2862_2865del:p.Ile954fs	coding	Pathogenic
5	132609161	GAA	G	A132609163G	RAD50	NM_005732.4(RAD50):c.2876_2877del:p.Lys959fs	coding	Pathogenic
5	132609185	AG	A	G132609186A	RAD50	NM_005732.4(RAD50):c.2899del:p.Asp967fs	coding	Pathogenic
5	132609272	C	CT	G132609279T	RAD50	NM_005732.4(RAD50):c.2923-5dup	noncoding	Benign/Likely_benign
5	132609272	CT	C	T132609278G	RAD50	NM_005732.4(RAD50):c.2923-5del	noncoding	Benign
5	132609285	AAAAG	A	G132609289C	RAD50	NM_005732.4(RAD50):c.2929_2932del:p.Glu977fs	coding	Pathogenic
5	132609293	CTG	C	T132609294A	RAD50	NM_005732.4(RAD50):c.2934_2935del:p.Glu979fs	coding	Pathogenic/Likely_pathogenic
5	132609295	GAACTT	G	C132609298T	RAD50	NM_005732.4(RAD50):c.2938_2942del:p.Glu979_Leu980insTer	coding	Pathogenic
5	132609303	TA	T	A132609306G	RAD50	NM_005732.4(RAD50):c.2946del:p.Lys982_Val983insTer	coding	Pathogenic
5	132609311	TA	T	A132609312G	RAD50	NM_005732.4(RAD50):c.2952del:p.Ile984fs	coding	Pathogenic
5	132609339	CAAAGA	C	A132609345T	RAD50	NM_005732.4(RAD50):c.2980_2984AAAGA[1]:p.Glu995fs	coding	Pathogenic
5	132609339	CAAAG	C	G132609343A	RAD50	NM_005732.4(RAD50):c.2983_2986del:p.Glu995fs	coding	Pathogenic
5	132609339	CAA	C	A132609341G	RAD50	NM_005732.4(RAD50):c.2981_2982del:p.Lys994fs	coding	Pathogenic
5	132609387	TACAC	T	C132609389G	RAD50	NM_005732.4(RAD50):c.3029_3032del:p.Thr1010fs	coding	Pathogenic/Likely_pathogenic
5	132609387	T	TA	C132609389A	RAD50	NM_005732.4(RAD50):c.3028dup:p.Thr1010fs	coding	Pathogenic
5	132616029	CCTTA	C	A132616033T	RAD50	NM_005732.4(RAD50):c.3067_3070del:p.Leu1022_Thr1023insTer	coding	Pathogenic
5	132616034	CT	C	T132616037A	RAD50	NM_005732.4(RAD50):c.3071del:p.Thr1023_Leu1024insTer	coding	Pathogenic
5	132618111	GA	G	A132618114T	RAD50	NM_005732.4(RAD50):c.3209del:p.Asn1070fs	coding	Pathogenic
5	132618137	CAGAA	C	A132618140G	RAD50	NM_005732.4(RAD50):c.3235_3238del:p.Lys1079fs	coding	Pathogenic
5	132618171	AGAAAGAA	T	A132618171T	RAD50	NM_005732.4(RAD50):c.3266_3273delinsT:p.Lys1089fs	coding	Pathogenic
5	132618174	AAG	A	G132618176A	RAD50	NM_005732.4(RAD50):c.3271_3272del:p.Glu1091fs	coding	Pathogenic
5	132618181	T	TC	G132618183C	RAD50	NM_005732.4(RAD50):c.3277dup:p.Arg1093fs	coding	Pathogenic
5	132618256	GA	G	A132618258C	RAD50	NM_005732.4(RAD50):c.3353del:p.Asn1118fs	coding	Pathogenic
5	132618270	ATATT	A	T132618275A	RAD50	NM_005732.4(RAD50):c.3366_3369TATT[1]:p.Tyr1124fs	coding	Pathogenic
5	132637162	T	TTA	C132637167T	RAD50	NM_005732.4(RAD50):c.3438_3439TA[3]:p.Arg1148fs	coding	Pathogenic
5	132637185	ACC	CGTGGTCACG	A132637185C	RAD50	NM_005732.4(RAD50):c.3460_3462delinsCGTGGTCACG:p.Thr1154fs	coding	Pathogenic
5	132638062	ATTC	A	T132638069C	RAD50	NM_005732.4(RAD50):c.3476-18TTC[2]	coding	Benign
5	132638080	GA	G	A132638081T	RAD50	NM_005732.4(RAD50):c.3476del:p.Asp1159fs	coding	Pathogenic
5	132638086	GA	G	A132638088T	RAD50	NM_005732.4(RAD50):c.3483del:p.Glu1161fs	coding	Pathogenic
5	132638093	TAGAAATA	T	A132638094C	RAD50	NM_005732.4(RAD50):c.3489_3495del:p.Glu1164fs	coding	Pathogenic/Likely_pathogenic
5	132638127	AGCTTCTGATAAAAG	A	T132638130G	RAD50	NM_005732.4(RAD50):c.3525_3538del:p.Ser1176fs	coding	Pathogenic
5	132638179	G	GAC	G132638185C	RAD50	NM_005732.4(RAD50):c.3578_3579dup:p.Ala1194fs	coding	Pathogenic
5	132640757	C	CA	T132640761A	RAD50	NM_005732.4(RAD50):c.3707dup:p.Asn1236fs	coding	Pathogenic
5	132640781	AATCTCTTGCACATGCTCTGGTTGAGTAAGT	A	T132640817A	RAD50	NM_005732.4(RAD50):c.3752+12_3752+41del	coding	Benign
5	132642203	C	CGTAACTTCCAGCT	T132642217G	RAD50	NM_005732.4(RAD50):c.3779_3791dup:p.Leu1265_Val1266insTer	coding	Pathogenic
5	132642203	CG	C	G132642204T	RAD50	NM_005732.4(RAD50):c.3779del:p.Arg1260fs	coding	Pathogenic/Likely_pathogenic
5	132642204	G	GT	A132642206T	RAD50	NM_005732.4(RAD50):c.3780dup:p.Asn1261Ter	coding	Pathogenic
5	132642204	G	GTAAC	T132642210A	RAD50	NM_005732.4(RAD50):c.3781_3784dup:p.Phe1262Ter	coding	Pathogenic
5	132862170	AG	A	G132862175A	GDF9	NM_001288825.2(GDF9):c.519del:p.Ser174fs	coding	Pathogenic
5	134201895	TA	T	A134201899T	PPP2CA	NM_002715.4(PPP2CA):c.438del:p.Phe146fs	coding	Pathogenic
5	134606988	C	CGTAA	C134606993G	SAR1B	NM_016103.4(SAR1B):c.555_558dup:p.Gly187fs	coding	Pathogenic
5	134609582	CT	C	T134609586G	SAR1B	NM_016103.4(SAR1B):c.336del:p.Glu113fs	coding	Pathogenic
5	134612737	A	AATGG	T134612742A	SAR1B	NM_016103.4(SAR1B):c.194_197dup:p.Ala67fs	coding	Pathogenic
5	134621034	CCA	C	C134621035G	SAR1B	NM_016103.4(SAR1B):c.75_76del:p.Thr25_Gly26insTer	coding	Pathogenic
5	135028924	GGAGTGCCGTACGGGCAAGCGCCCGGCGACATGGCC	G	G135028929T	PITX1	NM_002653.5(PITX1):c.765_799del:p.Ala256fs	coding	Pathogenic
5	137618759	CA	C	A137618774G	KLHL3	NM_017415.3(KLHL3):c.*3338del	noncoding	Benign
5	137661946	AG	A	G137661947T	KLHL3	NM_017415.3(KLHL3):c.721del:p.Leu241fs	coding	Pathogenic
5	137677661	C	CA	G137677676A	KLHL3	NM_017415.3(KLHL3):c.527-21dup	noncoding	Benign
5	138379607	AG	A	G138379610T	KDM3B	NM_016604.4(KDM3B):c.607del:p.Val203fs	coding	Pathogenic
5	138558545	TA	T	A138558547C	HSPA9	NM_004134.7(HSPA9):c.1515+7del	noncoding	Benign
5	138559895	CTATTAA	C	T138559898A	HSPA9	NM_004134.7(HSPA9):c.1373_1378del:p.Ile458_Asn459del	coding	Pathogenic
5	138566714	CCT	C	C138566715G	HSPA9	NM_004134.7(HSPA9):c.882_883del:p.Gly295_Val296insTer	coding	Pathogenic
5	138566991	G	GGTAACTCACCTCTCTCT	T138567009G	HSPA9	NM_004134.7(HSPA9):c.872_879+9dup	noncoding	Benign
5	138570959	CAT	C	A138570960G	HSPA9	NM_004134.7(HSPA9):c.409_410del:p.Asp136_Ile137insTer	coding	Pathogenic
5	138812304	TAC	T	C138812306G	CTNNA1	NM_001903.5(CTNNA1):c.588+4_588+5del	noncoding	Benign/Likely_benign
5	138947297	GC	G	C138947300A	SIL1	NM_022464.5(SIL1):c.1205del:p.Gly402fs	coding	Pathogenic
5	138951252	C	CA	G138951254A	SIL1	NM_022464.5(SIL1):c.947dup:p.Arg317fs	coding	Pathogenic
5	138951263	G	GC	G138951270C	SIL1	NM_022464.5(SIL1):c.936dup:p.Leu313fs	coding	Pathogenic
5	139026838	ATCTTC	A	T139026844C	SIL1	NM_022464.5(SIL1):c.598_602GAAGA[1]:p.Glu201fs	coding	Pathogenic
5	139026936	G	GTCTT	C139026945T	SIL1	NM_022464.5(SIL1):c.502_505AAGA[3]:p.Asp170fs	coding	Pathogenic
5	139121126	TG	CA	T139121126C	SIL1	NM_022464.5(SIL1):c.152_153inv:p.Thr51Met	coding	Benign
5	139307308	A	AT	G139307314T	MATR3	NM_018834.6(MATR3):c.-103dup	coding	Benign
5	140114184	GGCGGA	G	G140114185C	PURA	NM_005859.5(PURA):c.4_8del:p.Ala2fs	coding	Pathogenic
5	140114185	GCGGAC	G	G140114188A	PURA	NM_005859.5(PURA):c.7_11del:p.Asp3fs	coding	Pathogenic
5	140114187	G	GGACC	G140114194C	PURA	NM_005859.5(PURA):c.9_12dup:p.Asp5fs	coding	Pathogenic
5	140114195	ACAGCGGCAGCG	C	A140114195C	PURA	NM_005859.5(PURA):c.14_25delinsC:p.Asp5fs	coding	Pathogenic
5	140114217	TGCGGCGCTGGGTTCGG	T	G140114223T	PURA	NM_005859.5(PURA):c.42_57del:p.Leu15fs	coding	Pathogenic
5	140114218	GC	G	C140114219G	PURA	NM_005859.5(PURA):c.38del:p.Ala13fs	coding	Pathogenic
5	140114225	T	TGGGTTCGGGCGGCTCC	C140114242G	PURA	NM_005859.5(PURA):c.45_60dup:p.Leu21fs	coding	Pathogenic
5	140114231	C	CG	C140114235G	PURA	NM_005859.5(PURA):c.53dup:p.Gly19fs	coding	Pathogenic
5	140114243	T	TG	C140114248G	PURA	NM_005859.5(PURA):c.66dup:p.His23fs	coding	Pathogenic
5	140114280	CG	C	G140114282T	PURA	NM_005859.5(PURA):c.101del:p.Gly34fs	coding	Pathogenic
5	140114292	C	CG	C140114298G	PURA	NM_005859.5(PURA):c.116dup:p.Gly40fs	coding	Pathogenic
5	140114298	CG	C	G140114300C	PURA	NM_005859.5(PURA):c.119del:p.Gly40fs	coding	Pathogenic
5	140114307	CAGTG	C	A140114308G	PURA	NM_005859.5(PURA):c.127_130del:p.Ser43fs	coding	Pathogenic
5	140114324	GC	G	C140114325G	PURA	NM_005859.5(PURA):c.144del:p.Ala50fs	coding	Pathogenic
5	140114325	CG	C	G140114329C	PURA	NM_005859.5(PURA):c.148del:p.Ala50fs	coding	Pathogenic
5	140114326	G	GGGGCCCCA	G140114338C	PURA	NM_005859.5(PURA):c.149_156dup:p.Gly53fs	coding	Pathogenic
5	140114333	CA	C	A140114334G	PURA	NM_005859.5(PURA):c.153del:p.Leu54fs	coding	Pathogenic
5	140114334	A	AG	C140114341G	PURA	NM_005859.5(PURA):c.159dup:p.Leu54fs	coding	Pathogenic
5	140114354	C	CT	G140114355T	PURA	NM_005859.5(PURA):c.173_174insT:p.Gln59fs	coding	Pathogenic
5	140114443	ATCG	A	T140114444C	PURA	NM_005859.5(PURA):c.263_265del:p.Ile88_Ala89delinsThr	coding	Pathogenic
5	140114444	TC	T	C140114445G	PURA	NM_005859.5(PURA):c.264del:p.Ile88fs	coding	Pathogenic
5	140114446	GC	G	C140114448G	PURA	NM_005859.5(PURA):c.267del:p.Glu90fs	coding	Pathogenic
5	140114459	CG	C	G140114462C	PURA	NM_005859.5(PURA):c.281del:p.Gly94fs	coding	Pathogenic
5	140114481	TACTCTCTCC	T	C140114483T	PURA	NM_005859.5(PURA):c.302_310del:p.Thr101_Ser103del	coding	Pathogenic
5	140114482	A	ACT	C140114490T	PURA	NM_005859.5(PURA):c.303_304TC[4]:p.Met104fs	coding	Pathogenic
5	140114482	ACT	A	T140114488C	PURA	NM_005859.5(PURA):c.303_304TC[2]:p.Ser103fs	coding	Pathogenic
5	140114492	TG	T	G140114493T	PURA	NM_005859.5(PURA):c.312del:p.Met104fs	coding	Pathogenic
5	140114543	A	ACG	A140114549G	PURA	NM_005859.5(PURA):c.364_365GC[3]:p.Gln123fs	coding	Pathogenic
5	140114559	C	CA	G140114561A	PURA	NM_005859.5(PURA):c.379dup:p.Ser127fs	coding	Pathogenic
5	140114561	G	GC	A140114564C	PURA	NM_005859.5(PURA):c.382dup:p.Gln128fs	coding	Pathogenic
5	140114585	CGCAGGACGAGCCGCGCCGGGCGCTCAAAA	C	A140114588G	PURA	NM_005859.5(PURA):c.407_435del:p.Gln136fs	coding	Pathogenic
5	140114602	C	CG	C140114606G	PURA	NM_005859.5(PURA):c.424dup:p.Ala142fs	coding	Pathogenic
5	140114639	G	GC	A140114641C	PURA	NM_005859.5(PURA):c.459dup:p.Lys154fs	coding	Pathogenic
5	140114672	G	GCGGC	C140114679G	PURA	NM_005859.5(PURA):c.494_497dup:p.Phe167fs	coding	Pathogenic
5	140114687	GCATCCGC	G	T140114690G	PURA	NM_005859.5(PURA):c.509_515del:p.Ile170fs	coding	Pathogenic
5	140114709	G	GGGGCCTGGCCTGGGCTCCACGCA	A140114738T	PURA	NM_005859.5(PURA):c.534_556dup:p.Gln186fs	coding	Pathogenic
5	140114712	G	GC	T140114715C	PURA	NM_005859.5(PURA):c.533dup:p.Gly179fs	coding	Pathogenic
5	140114799	CGACGACT	C	G140114800A	PURA	NM_005859.5(PURA):c.619_625del:p.Asp207fs	coding	Pathogenic
5	140114820	G	GGAGCC	G140114827A	PURA	NM_005859.5(PURA):c.641_645dup:p.Ala216fs	coding	Pathogenic
5	140114855	CTG	C	T140114858G	PURA	NM_005859.5(PURA):c.675_676TG[1]:p.Val226fs	coding	Pathogenic
5	140114858	T	TGGACTGA	A140114863T	PURA	NM_005859.5(PURA):c.681_682insTGAGGAC:p.Asn228Ter	coding	Pathogenic
5	140114870	GCTT	G	T140114878G	PURA	NM_005859.5(PURA):c.691_693TTC[2]:p.Phe233del	coding	Pathogenic/Likely_pathogenic
5	140114883	TG	T	G140114884T	PURA	NM_005859.5(PURA):c.703del:p.Val235fs	coding	Pathogenic
5	140114890	T	TC	A140114893C	PURA	NM_005859.5(PURA):c.711dup:p.Asn238fs	coding	Pathogenic
5	140114904	CGT	C	G140114907T	PURA	NM_005859.5(PURA):c.724_725GT[1]:p.Phe243fs	coding	Pathogenic
5	140114905	G	GT	G140114907T	PURA	NM_005859.5(PURA):c.725dup:p.Phe243fs	coding	Pathogenic
5	140114924	AG	A	G140114926T	PURA	NM_005859.5(PURA):c.745del:p.Glu248_Val249insTer	coding	Pathogenic
5	140114984	GAC	G	A140114989C	PURA	NM_005859.5(PURA):c.804_805AC[2]:p.Thr270fs	coding	Pathogenic
5	140114990	CCTT	C	T140114993G	PURA	NM_005859.5(PURA):c.812_814del:p.Phe271del	coding	Pathogenic
5	140115103	GCTGCCACCCTGCTA	G	C140115108A	PURA	NM_005859.5(PURA):c.927_940del:p.Thr310fs	coding	Pathogenic
5	140552044	C	CG	A140552045G	SRA1	NM_001035235.3(SRA1):c.327_328insC:p.Val110fs	coding	Benign
5	140677027	G	GCAA	T140677032A	HARS1	NM_002109.6(HARS1):c.910_912dup:p.Leu305dup	coding	Pathogenic
5	141524178	CCT	C	C141524179G	DIAPH1	NM_005219.5(DIAPH1):c.3624_3625del:p.Ala1210fs	coding	Pathogenic
5	141527699	TA	T	A141527722C	DIAPH1	NM_005219.5(DIAPH1):c.3149-3del	noncoding	Benign
5	141527699	T	TAAAAAAAAAAAA	C141527723A	DIAPH1	NM_005219.5(DIAPH1):c.3149-25_3149-14dup	noncoding	Benign
5	141527699	T	TAAAAAAAAAAA	C141527723A	DIAPH1	NM_005219.5(DIAPH1):c.3149-25_3149-15dup	noncoding	Benign
5	141528813	C	CTT	A141528816T	DIAPH1	NM_005219.5(DIAPH1):c.2905_2906dup:p.Ser970fs	coding	Pathogenic
5	141529180	CA	C	A141529183C	DIAPH1	NM_005219.5(DIAPH1):c.2769del:p.Phe923fs	coding	Pathogenic
5	141534374	CTT	C	T141534377A	DIAPH1	NM_005219.5(DIAPH1):c.2540_2541del:p.Lys847fs	coding	Pathogenic
5	141573878	GC	A	G141573878A	DIAPH1	NM_005219.5(DIAPH1):c.1971_1972delinsT:p.Leu657fs	coding	Pathogenic
5	141573996	TGGA	T	G141574028T	DIAPH1	NM_005219.5(DIAPH1):c.1821_1823TCC[10]:p.Pro620del	coding	Benign
5	141573996	T	TGGAGGAGGAGGAGGA	T141574031G	DIAPH1	NM_005219.5(DIAPH1):c.1821_1823TCC[16]:p.Pro616_Pro620dup	coding	Benign
5	141573996	T	TGGAGGA	T141574031G	DIAPH1	NM_005219.5(DIAPH1):c.1821_1823TCC[13]:p.Pro619_Pro620dup	coding	Benign/Likely_benign
5	141573996	T	TGGA	T141574031G	DIAPH1	NM_005219.5(DIAPH1):c.1821_1823TCC[12]:p.Pro620dup	coding	Benign/Likely_benign
5	141577622	A	AAT	G141577627A	DIAPH1	NM_005219.5(DIAPH1):c.1164-35AT[3]	noncoding	Benign
5	141580888	TAGG	T	G141580890C	DIAPH1	NM_005219.5(DIAPH1):c.685-8_685-6del	noncoding	Benign
5	141945390	C	CCTGCTG	C141945410T	PCDH12	NC_000005.10:g.141945392_141945394TGC[8]	coding	Benign
5	141945390	C	CCTGCTGCTG	C141945410T	PCDH12	NC_000005.10:g.141945392_141945394TGC[9]	coding	Benign
5	141955340	TC	T	C141955341T	PCDH12	NM_016580.3(PCDH12):c.2511del:p.Ser838fs	coding	Pathogenic
5	141955616	CCTT	C	C141955620T	PCDH12	NM_016580.4(PCDH12):c.2230_2232AAG[1]:p.Lys745del	coding	Benign
5	141956791	AC	A	C141956792G	PCDH12	NM_016580.3(PCDH12):c.1060del:p.Val354fs	coding	Pathogenic
5	141957182	T	TG	T141957190G	PCDH12	NM_016580.4(PCDH12):c.669dup:p.Lys224fs	coding	Pathogenic
5	143298665	TACTC	T	C143298667T	NR3C1	NM_000176.3(NR3C1):c.1891_1892+2del	noncoding	Pathogenic
5	145859765	C	CA	T145859767A	GRXCR2	NM_001080516.1(GRXCR2):c.714dup:p.Gly239fs	coding	Pathogenic
5	146129125	AAAAAAG	A	G146129131C	LARS1	NM_020117.11(LARS1):c.2629-13_2629-8del	noncoding	Benign
5	146157633	G	GA	C146157643A	LARS1	NM_020117.11(LARS1):c.840-14dup	noncoding	Benign
5	146172006	TA	T	A146172009T	LARS1	NM_020117.11(LARS1):c.214-17del	noncoding	Benign
5	146172758	CAAAAT	C	A146172760C	LARS1	NM_020117.11(LARS1):c.137_141del:p.Tyr46fs	coding	Pathogenic
5	146177586	ACT	A	T146177592A	LARS1	NM_020117.11(LARS1):c.80_81AG[2]:p.Arg28fs	coding	Pathogenic
5	146339609	CG	C	G146339611C	POU4F3	NM_002700.3(POU4F3):c.184del:p.Ala62fs	coding	Pathogenic
5	146340088	GGCTCGCTGAGCCAA	G	G146340089A	POU4F3	NM_002700.3(POU4F3):c.662_675del:p.Gly221fs	coding	Pathogenic
5	146340306	CGCTATCCA	C	T146340309C	POU4F3	NM_002700.3(POU4F3):c.882_889del:p.Ile295fs	coding	Pathogenic
5	146878727	AGCT	A	T146878757A	PPP2R2B	NM_181678.2(PPP2R2B):c.-48-22174AGC[9]	coding	Benign
5	146878727	AGCTGCTGCT	A	T146878751A	PPP2R2B	NM_181675.3(PPP2R2B):c.27CAG[(7_28)[:p.Ser10[(7-28)]	coding	Benign
5	147831550	TG	T	G147831551A	SPINK1	NM_003122.4(SPINK1):c.27del:p.Ser10fs	coding	Pathogenic
5	148070388	AT	A	T148070394C	SPINK5	NM_006846.4(SPINK5):c.153del:p.Gln52fs	coding	Pathogenic
5	148072173	A	AG	C148072177G	SPINK5	NM_006846.3(SPINK5):c.238dup:p.Ala80fs	coding	Pathogenic
5	148072417	CTA	C	T148072418A	SPINK5	NM_006846.3(SPINK5):c.282+198_282+199del	noncoding	Benign
5	148086434	AAG	A	G148086438T	SPINK5	NM_006846.4(SPINK5):c.316_317del:p.Asp106fs	coding	Pathogenic
5	148086472	CTGTT	C	T148086476G	SPINK5	NM_006846.3(SPINK5):c.354_357del:p.Cys119fs	coding	Pathogenic
5	148086477	TGTGGCACAGATGGGAA	GACAACATATGACAACAGATGAC	T148086477G	SPINK5	NM_006846.3(SPINK5):c.355_371delinsGACAACATATGACAACAGATGAC:p.Cys119_Lys124delinsAspAsnIleTer	coding	Pathogenic
5	148086495	AC	A	C148086496A	SPINK5	NM_006846.4(SPINK5):c.374del:p.Thr125fs	coding	Pathogenic
5	148086510	T	TGTGC	A148086515G	SPINK5	NM_006846.3(SPINK5):c.389_392dup:p.Leu132fs	coding	Pathogenic
5	148094372	GA	G	A148094377C	SPINK5	NM_006846.3(SPINK5):c.690del:p.Lys230fs	coding	Pathogenic
5	148094377	AC	A	C148094378A	SPINK5	NM_006846.4(SPINK5):c.691del:p.Gln231fs	coding	Pathogenic
5	148095872	TG	T	G148095873A	SPINK5	NM_006846.4(SPINK5):c.850del:p.Glu284fs	coding	Pathogenic
5	148097978	AT	A	T148097979G	SPINK5	NM_006846.3(SPINK5):c.995del:p.Met332fs	coding	Pathogenic
5	148101113	T	TA	T148101115A	SPINK5	NM_006846.3(SPINK5):c.1221-241dup	noncoding	Benign
5	148104956	CA	C	A148104958G	SPINK5	NM_006846.3(SPINK5):c.1437del:p.Glu480fs	coding	Pathogenic
5	148108759	TGAAGA	T	G148108760A	SPINK5	NM_006846.3(SPINK5):c.1615_1619del:p.Glu539fs	coding	Pathogenic
5	148111891	TTCTTGTGAGTGGGCGGCAGCCACTG	CT	T148111891C	SPINK5	NM_006846.3(SPINK5):c.1816_1820+21delinsCT	coding	Pathogenic
5	148114386	CTT	C	T148114389G	SPINK5	NM_006846.3(SPINK5):c.1915_1916del:p.Leu639fs	coding	Pathogenic
5	148116440	AGTG	A	T148116448A	SPINK5	NM_006846.4(SPINK5):c.2088_2090TGG[2]:p.Gly701del	coding	Benign
5	148119003	G	GA	T148119010A	SPINK5	NM_006846.3(SPINK5):c.2264dup:p.Asn755fs	coding	Pathogenic
5	148120020	TG	T	G148120021A	SPINK5	NM_006846.3(SPINK5):c.2326del:p.Glu776fs	coding	Pathogenic
5	148120311	GA	G	A148120321G	SPINK5	NM_006846.3(SPINK5):c.2468del:p.Lys823fs	coding	Pathogenic
5	148120311	G	GA	G148120322A	SPINK5	NM_006846.3(SPINK5):c.2468dup:p.Lys824fs	coding	Pathogenic
5	148123870	GA	G	A148123873G	SPINK5	NM_006846.4(SPINK5):c.2579del:p.Lys860fs	coding	Pathogenic
5	148124742	C	CT	A148124752T	SPINK5	NM_006846.3(SPINK5):c.2667-14dup	noncoding	Benign
5	148127014	CA	C	A148127016G	SPINK5	NM_006846.4(SPINK5):c.2901del:p.Glu968fs	coding	Pathogenic
5	148137351	A	ACTC	T148137355C	SPINK5	NM_006846.3(SPINK5):c.*361_*363dup	noncoding	Benign
5	148985146	G	GA	C148985159A	SH3TC2	NM_024577.3(SH3TC2):c.*19564dup	noncoding	Benign
5	149006878	T	TA	C149006880A	SH3TC2	NM_024577.3(SH3TC2):c.3675+2dup	noncoding	Pathogenic
5	149008893	AAGCCTTCTCAT	A	T149008901G	SH3TC2	NM_024577.3(SH3TC2):c.3425_3435del:p.Tyr1142fs	coding	Pathogenic
5	149008987	AG	A	G149008989A	SH3TC2	NM_024577.3(SH3TC2):c.3341del:p.Pro1114fs	coding	Pathogenic
5	149010293	GC	G	C149010295T	SH3TC2	NM_024577.3(SH3TC2):c.3303del:p.Arg1101fs	coding	Pathogenic
5	149026635	CG	C	G149026637T	SH3TC2	NM_024577.4(SH3TC2):c.2989del:p.Arg997fs	coding	Pathogenic
5	149027239	ACT	A	C149027244G	SH3TC2	NM_024577.3(SH3TC2):c.2491_2492delAG	coding	Pathogenic
5	149027239	ACTCT	A	C149027242G	SH3TC2	NM_024577.4(SH3TC2):c.2487_2488AG[1]:p.Glu830fs	coding	Pathogenic
5	149027540	TC	T	C149027541A	SH3TC2	NM_024577.3(SH3TC2):c.2191del:p.Glu731fs	coding	Pathogenic
5	149027542	AC	A	C149027546A	SH3TC2	NM_024577.4(SH3TC2):c.2189del:p.Gly730fs	coding	Pathogenic
5	149027641	ACCATGTTGCTGGACAGAGG	A	T149027645C	SH3TC2	NM_024577.3(SH3TC2):c.2072_2090del:p.Ala691fs	coding	Pathogenic
5	149027727	AG	A	G149027729C	SH3TC2	NM_024577.4(SH3TC2):c.2004del:p.Ser669fs	coding	Pathogenic
5	149027862	TCC	T	C149027865T	SH3TC2	NM_024577.3(SH3TC2):c.1868_1869del:p.Gly623fs	coding	Pathogenic
5	149027927	AG	A	G149027929C	SH3TC2	NM_024577.4(SH3TC2):c.1804del:p.Leu602fs	coding	Pathogenic
5	149027931	A	AGGCC	A149027936G	SH3TC2	NM_024577.3(SH3TC2):c.1797_1800dup:p.Cys601fs	coding	Pathogenic
5	149027983	CCT	C	C149027986G	SH3TC2	NM_024577.3(SH3TC2):c.1747_1748delAG	coding	Pathogenic
5	149028069	TG	T	G149028071C	SH3TC2	NM_024577.3(SH3TC2):c.1662del:p.Ile555fs	coding	Pathogenic
5	149028145	AC	CT	A149028145C	SH3TC2	NM_024577.3(SH3TC2):c.1586_1587delinsAG:p.Arg529Gln	coding	Pathogenic
5	149028208	CACAA	C	A149028211T	SH3TC2	NM_024577.3(SH3TC2):c.1520_1523del:p.Phe507fs	coding	Pathogenic
5	149028365	AG	A	G149028367T	SH3TC2	NM_024577.4(SH3TC2):c.1366del:p.Asp455_Leu456insTer	coding	Pathogenic
5	149038321	GT	G	T149038323C	SH3TC2	NM_024577.4(SH3TC2):c.974del:p.Asn325fs	coding	Pathogenic
5	149038338	AG	A	G149038339C	SH3TC2	NM_024577.3(SH3TC2):c.957del:p.Phe320fs	coding	Pathogenic
5	149038475	T	TA	T149038476A	SH3TC2	NM_024577.3(SH3TC2):c.820_821insT:p.Lys274fs	coding	Pathogenic
5	149041458	AC	A	C149041460A	SH3TC2	NM_024577.4(SH3TC2):c.688del:p.Val230fs	coding	Pathogenic
5	149044524	GTACCA	G	A149044529T	SH3TC2	NM_024577.4(SH3TC2):c.385+4_385+8del	noncoding	Benign
5	149052125	CTT	C	T149052127G	SH3TC2	NM_024577.4(SH3TC2):c.151+15_151+16del	noncoding	Benign
5	149866192	AAGTC	A	G149866194A	PDE6A	NM_000440.3(PDE6A):c.2332_2335del:p.Asp778fs	coding	Pathogenic/Likely_pathogenic
5	149883445	GT	G	T149883446G	PDE6A	NM_000440.3(PDE6A):c.2118del:p.Arg707fs	coding	Pathogenic
5	149883478	CCTGTT	C	T149883480A	PDE6A	NM_000440.3(PDE6A):c.2081_2085del:p.Glu694fs	coding	Pathogenic
5	149883499	TA	T	A149883500G	PDE6A	NM_000440.3(PDE6A):c.2064del:p.Lys689fs	coding	Pathogenic
5	149884549	G	GACGGCATGCTCATGCTGTCA	A149884553G	PDE6A	NM_000440.3(PDE6A):c.1956_1957insTGACAGCATGAGCATGCCGT:p.Arg653Ter	coding	Pathogenic
5	149898409	ACT	GG	A149898409G	PDE6A	NM_000440.3(PDE6A):c.1359_1361delinsCC:p.Val454fs	coding	Pathogenic
5	149898410	CTA	C	A149898412G	PDE6A	NM_000440.3(PDE6A):c.1358_1359del:p.Ile453fs	coding	Pathogenic
5	149898501	CA	C	A149898504G	PDE6A	NM_000440.3(PDE6A):c.1268del:p.Ser422_Leu423insTer	coding	Pathogenic
5	149898511	A	AAAAG	G149898524A	PDE6A	NM_000440.3(PDE6A):c.1264-17CTTT[4]	noncoding	Benign
5	149931171	G	GA	C149931178A	PDE6A	NM_000440.3(PDE6A):c.718-9dup	noncoding	Benign
5	149944265	C	AG	C149944265A	PDE6A	NM_000440.3(PDE6A):c.409delinsCT:p.Asp137fs	coding	Pathogenic
5	149944387	AG	A	G149944389C	PDE6A	NM_000440.3(PDE6A):c.286del:p.Leu96fs	coding	Pathogenic
5	149977662	GAAAGT	G	T149977667A	SLC26A2	NM_000112.4(SLC26A2):c.15_19del:p.Ser5fs	coding	Pathogenic
5	149977789	A	AT	C149977791T	SLC26A2	NM_000112.4(SLC26A2):c.138dup:p.Gln47fs	coding	Pathogenic
5	149977948	TC	T	C149977951A	SLC26A2	NM_000112.4(SLC26A2):c.299del:p.Pro100fs	coding	Pathogenic
5	149978083	C	CT	G149978091T	SLC26A2	NM_000112.4(SLC26A2):c.438dup:p.Ala147fs	coding	Pathogenic
5	149978083	CT	C	T149978090G	SLC26A2	NM_000112.3(SLC26A2):c.438del:p.Phe146fs	coding	Pathogenic/Likely_pathogenic
5	149978134	CTG	C	T149978137G	SLC26A2	NM_000112.4(SLC26A2):c.483_484TG[1]:p.Val162fs	coding	Pathogenic/Likely_pathogenic
5	149980410	CT	C	T149980412G	SLC26A2	NM_000112.4(SLC26A2):c.819del:p.Leu275fs	coding	Pathogenic
5	149980602	CTTG	C	T149980613A	SLC26A2	NM_000112.4(SLC26A2):c.1011_1013TGT[3]:p.Val341del	coding	Pathogenic/Likely_pathogenic
5	149981011	CT	C	T149981014G	SLC26A2	NM_000112.4(SLC26A2):c.1421del:p.Leu474fs	coding	Pathogenic
5	149981022	TC	T	C149981025T	SLC26A2	NM_000112.4(SLC26A2):c.1432del:p.Leu478fs	coding	Pathogenic
5	149981218	TCATCCTCCGCACTCAGAAGCCAAAG	AACACCA	T149981218A	SLC26A2	NM_000112.4(SLC26A2):c.1625_1650delinsAACACCA:p.Val542fs	coding	Pathogenic
5	149981315	TA	T	A149981317G	SLC26A2	NM_000112.3(SLC26A2):c.1724del:p.Lys575fs	coding	Pathogenic/Likely_pathogenic
5	149986273	GT	G	T149986282G	SLC26A2	NM_000112.3(SLC26A2):c.*4469del	noncoding	Benign
5	150053837	G	GC	G150053838C	CSF1R	NM_005211.3(CSF1R):c.*231_*232insG	noncoding	Benign
5	150056031	GAGA	G	A150056035T	CSF1R	NM_001288705.2(CSF1R):c.2543_2545TCT[1]:p.Phe849del	coding	Pathogenic
5	150056050	GGAT	TGCC	G150056050T	CSF1R	NM_001288705.2(CSF1R):c.2527_2530delinsGGCA:p.Ile843_Leu844delinsGlyIle	coding	Pathogenic
5	150059771	C	CA	G150059773A	CSF1R	NM_005211.3(CSF1R):c.2060dup:p.Ser688fs	coding	Pathogenic
5	150060745	CCT	C	C150060746G	CSF1R	NM_005211.3(CSF1R):c.1969+115_1969+116del	noncoding	Pathogenic
5	150061776	GT	G	T150061777G	CSF1R	NM_005211.3(CSF1R):c.1699del:p.Thr567fs	coding	Pathogenic
5	150113286	TCTCTTC	T	C150113305T	CSF1R	NM_005211.3(CSF1R):c.-212_-207delGAAGAG	noncoding	Benign
5	150125535	T	TCACAGACTCAATCACCTTCCATCGGATCAGCTC	T150125564A	PDGFRB	NM_002609.4(PDGFRB):c.1716_1717insGAGCTGATCCGATGGAAGGTGATTGAGTCTGTG:p.Ser573_Ser574insGluLeuIleArgTrpLysValIleGluSerVal	coding	Pathogenic
5	150125549	ACCTTCC	A	C150125550A	PDGFRB	NM_002609.4(PDGFRB):c.1697_1702del:p.Trp566_Val568delinsLeu	coding	Pathogenic
5	150125567	TAAC	T	A150125568G	PDGFRB	NM_002609.4(PDGFRB):c.1682_1684del:p.Arg561_Tyr562delinsHis	coding	Pathogenic
5	150126578	A	AATC	G150126579A	PDGFRB	NM_002609.4(PDGFRB):c.1615_1616insGAT:p.Leu539_Ala540insArg	coding	Pathogenic
5	150129816	C	CGCACCGACAGTA	G150129828A	PDGFRB	NM_002609.4(PDGFRB):c.1519_1520insTACTGTCGGTGC:p.Arg507_Cys508insLeuLeuSerVal	coding	Pathogenic
5	150367911	AGCCAAGGTGAGTGGGACT	A	A150367915T	TCOF1	NM_000356.4(TCOF1):c.376_378+15del	coding	Pathogenic
5	150368721	GAC	G	C150368723G	TCOF1	NM_000356.4(TCOF1):c.386_387del:p.Thr129fs	coding	Pathogenic
5	150368758	C	CA	C150368760A	TCOF1	NM_000356.4(TCOF1):c.422dup:p.His141fs	coding	Pathogenic
5	150368833	AATAC	A	A150368834T	TCOF1	NM_000356.4(TCOF1):c.497_500del:p.Asn166fs	coding	Pathogenic
5	150369595	ACG	A	C150369596T	TCOF1	NM_001371623.1(TCOF1):c.633_634del:p.Val212fs	coding	Pathogenic
5	150372011	ACCCTC	A	C150372012A	TCOF1	NM_001371623.1(TCOF1):c.646_650del:p.Pro216fs	coding	Pathogenic
5	150374319	CAG	C	A150374324C	TCOF1	NM_001371623.1(TCOF1):c.1021_1022del:p.Ser341fs	coding	Pathogenic
5	150375002	GCCAAGGAGTCC	G	A150375005C	TCOF1	NM_001371623.1(TCOF1):c.1330_1340del:p.Lys444fs	coding	Pathogenic
5	150375029	G	GC	A150375034C	TCOF1	NM_000356.4(TCOF1):c.1127dup:p.Ala377fs	coding	Pathogenic
5	150375051	CAG	C	A150375052G	TCOF1	NM_000356.4(TCOF1):c.1146_1147del:p.Gly383fs	coding	Pathogenic
5	150375062	GC	G	C150375064G	TCOF1	NM_001371623.1(TCOF1):c.1389del:p.Ala464fs	coding	Pathogenic
5	150375119	TCAGA	T	A150375123T	TCOF1	NM_000356.4(TCOF1):c.1217_1220del:p.Asp406fs	coding	Pathogenic/Likely_pathogenic
5	150375409	G	GC	G150375411C	TCOF1	NM_001371623.1(TCOF1):c.1560dup:p.Ala521fs	coding	Pathogenic
5	150375484	CAGAG	C	A150375487C	TCOF1	NM_000356.4(TCOF1):c.1404_1405AG[1]:p.Glu469fs	coding	Pathogenic
5	150375484	CAG	C	A150375489C	TCOF1	NM_000356.4(TCOF1):c.1404_1405AG[2]:p.Ser470fs	coding	Pathogenic
5	150375508	C	CA	G150375510A	TCOF1	NM_001371623.1(TCOF1):c.1659dup:p.Asp554fs	coding	Pathogenic
5	150376110	C	CCA	A150376113C	TCOF1	NM_000356.4(TCOF1):c.1692_1693dup:p.Lys565fs	coding	Pathogenic
5	150376424	CAA	C	A150376426G	TCOF1	NM_000356.4(TCOF1):c.1915_1916del:p.Lys639fs	coding	Pathogenic
5	150376562	ACT	A	C150376565G	TCOF1	NM_000356.4(TCOF1):c.2052_2053CT[1]:p.Asp684_Ser685insTer	coding	Pathogenic
5	150376565	CTG	C	T150376566A	TCOF1	NM_000356.4(TCOF1):c.2055_2056del:p.Ser687fs	coding	Pathogenic
5	150378916	AG	A	G150378917T	TCOF1	NM_001371623.1(TCOF1):c.2353del:p.Ser784_Val785insTer	coding	Pathogenic
5	150378947	GC	G	C150378948T	TCOF1	NM_001371623.1(TCOF1):c.2384del:p.Ala795fs	coding	Pathogenic
5	150379238	CCAGTGAGAAA	C	A150379240C	TCOF1	NM_001371623.1(TCOF1):c.2490_2499del:p.Val831fs	coding	Pathogenic
5	150379502	TCTCTC	T	C150379508A	TCOF1	NM_000356.4(TCOF1):c.2428-24_2428-20del	noncoding	Benign
5	150379548	AGAC	GCTGCCTTGGCT	A150379548G	TCOF1	NM_000356.4(TCOF1):c.2444_2447delinsGCTGCCTTGGCT:p.Lys815fs	coding	Pathogenic
5	150379668	CAG	C	A150379669G	TCOF1	NM_000356.4(TCOF1):c.2565_2566del:p.Gly856fs	coding	Pathogenic
5	150389929	GA	G	A150389931T	TCOF1	NM_001371623.1(TCOF1):c.3091del:p.Arg1030_Ile1031insTer	coding	Pathogenic
5	150389946	A	AG	C150389948G	TCOF1	NM_000356.4(TCOF1):c.2876dup:p.Ser959fs	coding	Pathogenic
5	150389971	A	AG	A150389974G	TCOF1	NM_000356.4(TCOF1):c.2902dup:p.Glu968fs	coding	Pathogenic
5	150392150	A	AG	C150392156G	TCOF1	NM_001371623.1(TCOF1):c.3496dup:p.Ala1166fs	coding	Pathogenic
5	150393392	GA	G	A150393393C	TCOF1	NM_001371623.1(TCOF1):c.3625del:p.Thr1209fs	coding	Pathogenic
5	150393521	ACAGG	A	G150393525C	TCOF1	NM_000356.4(TCOF1):c.3523_3526del:p.Ala1175fs	coding	Pathogenic
5	150396285	GAA	G	A150396288G	TCOF1	NM_000356.4(TCOF1):c.3557_3558del:p.Lys1186fs	coding	Pathogenic
5	150396459	CTG	C	T150396460A	TCOF1	NM_000356.4(TCOF1):c.3729_3730del:p.Glu1244fs	coding	Pathogenic
5	150396468	T	TG	A150396471G	TCOF1	NM_000356.4(TCOF1):c.3739dup:p.Glu1247fs	coding	Pathogenic
5	150396559	GC	G	C150396561A	TCOF1	NM_001371623.1(TCOF1):c.4064del:p.Pro1355fs	coding	Pathogenic
5	150396583	CAAG	C	A150396596C	TCOF1	NM_001371623.1(TCOF1):c.4087_4089AAG[4]:p.Lys1367del	coding	Benign
5	150396627	CTG	C	G150396629T	TCOF1	NM_000356.4(TCOF1):c.3898_3899del:p.Val1300fs	coding	Pathogenic
5	150396632	T	TC	A150396637C	TCOF1	NM_001371623.1(TCOF1):c.4139dup:p.Glu1381fs	coding	Pathogenic
5	150396714	A	AG	T150396719G	TCOF1	NM_000356.4(TCOF1):c.3987dup:p.Ser1330fs	coding	Pathogenic
5	150396821	GAGA	G	G150396829A	TCOF1	NM_000356.4(TCOF1):c.4092_4094GAA[2]:p.Lys1367del	coding	Benign
5	150398364	CAAAG	C	G150398368A	TCOF1	NM_000356.4(TCOF1):c.4126_4129del:p.Glu1376fs	coding	Pathogenic
5	150398364	CAA	C	A150398366G	TCOF1	NM_000356.4(TCOF1):c.4124_4125del:p.Lys1375fs	coding	Pathogenic/Likely_pathogenic
5	150398368	GAAAAA	G	A150398372G	TCOF1	NM_000356.4(TCOF1):c.4130_4134del:p.Lys1377fs	coding	Pathogenic
5	150398368	GAA	G	A150398375G	TCOF1	NM_000356.4(TCOF1):c.4133_4134del:p.Lys1378fs	coding	Pathogenic
5	150398368	GA	G	A150398376G	TCOF1	NM_000356.4(TCOF1):c.4134del:p.Glu1379fs	coding	Pathogenic
5	150398368	G	GA	G150398377A	TCOF1	NM_000356.4(TCOF1):c.4134dup:p.Glu1379fs	coding	Pathogenic
5	150398372	AAAAAG	A	A150398380G	TCOF1	NM_000356.4(TCOF1):c.4133_4137AAGAA[1]:p.Lys1380fs	coding	Pathogenic
5	150398379	AAAG	A	G150398388A	TCOF1	NM_000356.4(TCOF1):c.4140_4142GAA[2]:p.Lys1383del	coding	Benign
5	150398415	TTC	T	C150398417G	TCOF1	NM_000356.4(TCOF1):c.4175_4176del:p.Asp1391_Ser1392insTer	coding	Pathogenic
5	151266819	TC	T	C151266820T	GM2A	NM_000405.5(GM2A):c.333del:p.Cys112fs	coding	Pathogenic
5	151267815	CT	C	T151267827G	GM2A	NM_000405.5(GM2A):c.*376del	noncoding	Benign
5	151268161	C	CT	G151268175T	GM2A	NM_000405.5(GM2A):c.*723dup	noncoding	Benign
5	151268681	C	CA	G151268691A	GM2A	NM_000405.5(GM2A):c.*1239dup	noncoding	Benign
5	151268723	T	TC	A151268726C	GM2A	NM_000405.5(GM2A):c.*1274dup	noncoding	Benign
5	151270164	TAATA	T	A151270168G	GM2A	NM_000405.5(GM2A):c.*2717_*2720del	noncoding	Benign
5	151829058	CA	C	A151829059T	GLRA1	NM_000171.4(GLRA1):c.921del:p.Ser306_Tyr307insTer	coding	Pathogenic
5	151859962	CG	C	G151859967T	GLRA1	NM_000171.4(GLRA1):c.298del:p.Arg100fs	coding	Pathogenic
5	153492228	T	TC	T153492230C	GRIA1	NM_000827.4(GRIA1):c.82+1259dup	coding	Benign
5	156326646	CTGTAATAAGCT	C	A156326650T	SGCD	NM_000337.5(SGCD):c.-626_-616del	noncoding	Benign
5	156344549	G	GT	A156344551T	SGCD	NM_000337.5(SGCD):c.65dup:p.Tyr23fs	coding	Pathogenic
5	156344556	A	AGGTG	G156344563T	SGCD	NM_000337.5(SGCD):c.74_77dup:p.Ile27fs	coding	Pathogenic
5	156589288	CAGACT	C	G156589290A	SGCD	NM_172244.3(SGCD):c.354_358del:p.Thr119fs	coding	Pathogenic
5	156757660	GC	G	C156757662A	SGCD	NM_000337.5(SGCD):c.657del:p.Thr220fs	coding	Pathogenic
5	156757714	GAGA	G	A156757717G	SGCD	NM_000337.5(SGCD):c.699+13_699+15del	coding	Benign/Likely_benign
5	156763161	G	GA	G156763163A	SGCD	NM_000337.5(SGCD):c.*3772dup	noncoding	Benign
5	157052546	GTTGGAACAGTCGTCA	G	C157052560T	HAVCR1	NM_001173393.3(HAVCR1):c.473_487del:p.Met158_Pro162del	coding	Benign
5	157052557	C	CGTT	C157052560T	HAVCR1	NM_001173393.3(HAVCR1):c.476_477insAAC:p.Thr160dup	coding	Benign
5	157240122	AT	A	T157240123A	ITK	NM_005546.3(ITK):c.913del:p.Tyr305fs	coding	Pathogenic
5	157463151	AC	A	C157463153T	NIPAL4	NM_001099287.1(NIPAL4):c.283del:p.Leu95fs	coding	Pathogenic
5	157471653	GC	G	C157471654A	NIPAL4	NM_001099287.1(NIPAL4):c.612-3del	noncoding	Pathogenic
5	157471748	GTGATACA	G	A157471751C	NIPAL4	NM_001099287.1(NIPAL4):c.706_712del:p.Ile236fs	coding	Pathogenic
5	157471753	AC	A	C157471754A	NIPAL4	NM_001099287.1(NIPAL4):c.709del:p.His237fs	coding	Pathogenic
5	157472822	CA	C	A157472827C	NIPAL4	NM_001099287.1(NIPAL4):c.1268del:p.Asn423fs	coding	Pathogenic
5	159315199	AT	A	T159315210G	IL12B	NM_002187.2(IL12B):c.*901del	noncoding	Benign
5	159323112	CAGGAGCGA	C	G159323114T	IL12B	NM_002187.2(IL12B):c.298_305del:p.Ser100fs	coding	Pathogenic
5	161331130	GA	G	A161331138T	GABRB2	NM_001371727.1(GABRB2):c.833-4del	noncoding	Benign
5	161336785	TAC	T	C161336801A	GABRB2	NM_000813.3(GABRB2):c.542-32GT[7]	noncoding	Benign
5	161895646	GT	G	T161895657C	GABRA1	NM_001127644.2(GABRA1):c.857-9del	noncoding	Benign
5	161895675	CTGTGCTCACCATGACAACAT	C	T161895678A	GABRA1	NM_001127644.2(GABRA1):c.869_888del:p.Val290fs	coding	Pathogenic
5	161897250	TC	T	C161897251A	GABRA1	NM_001127644.2(GABRA1):c.1200del:p.Lys401fs	coding	Pathogenic
5	162097655	A	AT	G162097662T	GABRG2	NM_198903.2(GABRG2):c.351dup:p.Ala118fs	coding	Pathogenic
5	162097839	CG	C	G162097840A	GABRG2	NM_198903.2(GABRG2):c.530del:p.Arg177fs	coding	Pathogenic
5	162103930	AGTTCT	A	C162103934G	GABRG2	NM_198903.2(GABRG2):c.797_801del:p.Ser265_Ser266insTer	coding	Pathogenic
5	162103952	CA	C	A162103954G	GABRG2	NM_198904.4(GABRG2):c.697del:p.Arg233fs	coding	Pathogenic
5	162149209	TG	T	G162149210T	GABRG2	NM_198903.2(GABRG2):c.1145del:p.Cys382fs	coding	Pathogenic
5	162149217	CT	C	T162149220G	GABRG2	NM_198903.2(GABRG2):c.1155del:p.Phe385fs	coding	Pathogenic
5	162149270	AC	A	C162149272G	GABRG2	NM_198904.4(GABRG2):c.1087del:p.Arg363fs	coding	Pathogenic
5	162155487	CAT	C	A162155488G	GABRG2	NM_198903.2(GABRG2):c.*2120_*2121del	noncoding	Benign
5	168062044	C	CTT	C168062057T	TENM2	NM_001080428.3(TENM2):c.614-5_614-4dup	noncoding	Benign
5	168431457	TCTGG	T	G168431501A	WWC1	NM_015238.3(WWC1):c.2280+14CTGG[10]	noncoding	Benign
5	168488649	CTG	C	T168488652G	RARS1	NM_002887.4(RARS1):c.94_95TG[1]:p.Cys32fs	coding	Pathogenic
5	168510671	AAAAG	A	A168510677G	RARS1	NM_002887.4(RARS1):c.1439_1442AAGA[1]:p.Arg482fs	coding	Pathogenic
5	168518034	CTA	C	T168518035C	RARS1	NM_002887.4(RARS1):c.1846_1847del:p.Tyr616fs	coding	Pathogenic
5	168518037	CTG	C	T168518042G	RARS1	NM_002887.4(RARS1):c.1849_1850TG[2]:p.Val618fs	coding	Pathogenic
5	168518069	G	GTTTTTTTTTTTTTTTTTTTTTTT	C168518071T	RARS1	NM_002887.4(RARS1):c.1873+8_1873+9insTTTTTTTTTTTTTTTTTTTTTTT	noncoding	Benign
5	168518069	G	GTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	C168518071T	RARS1	NM_002887.4(RARS1):c.1873+8_1873+9insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	noncoding	Benign
5	171410539	C	CTCTG	G171410544T	NPM1	NM_002520.6(NPM1):c.860_863dupTCTG	coding	Pathogenic
5	171410540	T	TCTGC	G171410544C	NPM1	NM_002520.6(NPM1):c.863_864insCCTG:p.Trp288fs	coding	Pathogenic
5	171410541	C	CTGCA	G171410544C	NPM1	NM_002520.6(NPM1):c.863_864insCATG:p.Trp288fs	coding	Pathogenic
5	171410541	C	CTGCG	G171410544C	NPM1	NM_002520.6(NPM1):c.863_864insCGTG:p.Trp288fs	coding	Pathogenic
5	171410544	GCAGTGGAGG	TTTAAGGATTCGTC	G171410544T	NPM1	NM_002520.6(NPM1):c.864_873delinsTTTAAGGATTCGTC:p.Trp288fs	coding	Pathogenic
5	171410549	GGAGGAA	CCCTGGCTAGG	G171410549C	NPM1	NM_199185.3(NPM1):c.782_788delinsCCCTGGCTAGG:p.Trp261fs	coding	Pathogenic
5	172333540	TA	T	A172333553G	SH3PXD2B	NM_001017995.3(SH3PXD2B):c.*4828del	coding	Benign
5	172335438	A	AC	A172335441C	SH3PXD2B	NM_001017995.3(SH3PXD2B):c.*2930dup	coding	Benign
5	172336529	G	GT	G172336531T	SH3PXD2B	NM_001017995.3(SH3PXD2B):c.*1839dup	coding	Benign
5	172337097	G	GC	A172337098C	SH3PXD2B	NM_001017995.3(SH3PXD2B):c.*1271_*1272insG	coding	Benign
5	172339475	GCCGCTC	G	C172339489A	SH3PXD2B	NM_001017995.3(SH3PXD2B):c.1612_1617GAGCGG[2]:p.538_539ER[2]	coding	Benign/Likely_benign
5	172350405	GC	G	C172350408G	SH3PXD2B	NM_001017995.3(SH3PXD2B):c.969del:p.Arg324fs	coding	Pathogenic/Likely_pathogenic
5	172350528	AG	A	G172350531C	SH3PXD2B	NM_001017995.3(SH3PXD2B):c.846del:p.Leu283fs	coding	Pathogenic
5	172422424	C	CA	C172422431A	SH3PXD2B	NM_001017995.3(SH3PXD2B):c.147dup:p.Asp50Ter	coding	Pathogenic
5	173232815	CACGCCGTA	C	A173232816G	NKX2-5	NM_004387.4(NKX2-5):c.721_728del:p.Tyr241fs	coding	Pathogenic
5	173232857	T	TGG	C173232860G	NKX2-5	NM_004387.4(NKX2-5):c.685_686dup:p.Cys230fs	coding	Pathogenic
5	173232925	GC	G	C173232929A	NKX2-5	NM_004387.4(NKX2-5):c.618del:p.Leu207fs	coding	Pathogenic
5	173232937	CCA	C	C173232938G	NKX2-5	NM_004387.4(NKX2-5):c.605_606del:p.Leu202fs	coding	Pathogenic/Likely_pathogenic
5	173232989	C	CG	C173232990G	NKX2-5	NM_004387.4(NKX2-5):c.554_555insC:p.Trp185fs	coding	Pathogenic
5	173233064	CTG	AACGGTAC	C173233064A	NKX2-5	NM_004387.4(NKX2-5):c.478_480delinsGTACCGTT:p.Gln160fs	coding	Pathogenic
5	173233071	TTG	T	T173233072A	NKX2-5	NM_004387.4(NKX2-5):c.471_472del:p.Phe157fs	coding	Pathogenic
5	173233100	CG	C	G173233101C	NKX2-5	NM_004387.4(NKX2-5):c.443del:p.Ala148fs	coding	Pathogenic
5	173233104	TG	T	G173233105C	NKX2-5	NM_004387.4(NKX2-5):c.439del:p.Gln147fs	coding	Pathogenic
5	173233168	C	CT	G173233170T	NKX2-5	NM_004387.4(NKX2-5):c.375dup:p.Glu126fs	coding	Pathogenic
5	173234748	ACCTTTCTTTTCGGCTCTAGGGTCCTTGGCTGGGTCGGGGTCGCTGTAGGCACGTGGATAGAAGGCGGGGGCGGCGGGAAAGGCAGACGCACACTTGGCCGGTGAAGGCGCGCGGCCCAGCTCTGCGCGCAGCTCTGGGAGGCCCGGCGCAGCCGCCTCGGGCCCAGCGTAGGCCTCTGGCTTGAAGGCGGCCAGCATGCAGGAGGAGGGCGCCAGGGTCGCCTCCAGGCGGGCAGAGAGCTCTCCGGCGGCAGCCAGGCTGCGCTGCTGCTGTTCCAGGTTTAGGATGTCTTTGACTGAGAAGGGCGTGGGCGTGAGAGCAGGGCTGGGGAACATGGTGGCAGCGCCAGTCTCACAGCGCCAGGTGGGCGGCAGAAAGCGGCGCTGCCCACGGCCCCTGGCAGCTTCCCTGCATGGTGCCGCCGCCCGCCCGCGCACCCGTCGGCCAGCTCTGGATGTGTCCGGGCAGCAGGTAGCGCTGAGCACAAGGGGCAGGAGAGGCGGGACCAGGCCAGAGGAGGGGGACTCAGCCTGCCATTGGGCCAGGGGCCTCGATGACAGGAG	A	C173234750G	NKX2-5	NM_004387.4(NKX2-5):c.0_334+1del	noncoding	Pathogenic
5	173234821	GC	G	C173234822G	NKX2-5	NM_004387.4(NKX2-5):c.262del:p.Ala88fs	coding	Pathogenic
5	173234837	C	CA	C173234839A	NKX2-5	NM_004387.4(NKX2-5):c.246dup:p.Ala83fs	coding	Pathogenic
5	173234854	GGC	G	C173234860G	NKX2-5	NM_004387.4(NKX2-5):c.224_225GC[2]:p.Pro77fs	coding	Pathogenic
5	173234862	GCCCAGCT	G	C173234864T	NKX2-5	NM_004387.4(NKX2-5):c.215_221del:p.Glu72fs	coding	Pathogenic
5	173234921	CCTCTGGCTTGAAGGCG	AGGAGGC	C173234921A	NKX2-5	NM_004387.4(NKX2-5):c.147_163delinsGCCTCCT:p.Ala50fs	coding	Pathogenic
5	173234923	T	TCGGGCCAG	T173234925G	NKX2-5	NM_004387.4(NKX2-5):c.160_161insCTGGCCCG:p.Glu54fs	coding	Pathogenic
5	174724924	GC	TA	G174724924T	MSX2	NM_002449.5(MSX2):c.265_266delinsTA:p.Ala89Ter	coding	Pathogenic
5	174725002	TG	T	G174725004A	MSX2	NM_002449.5(MSX2):c.345del:p.Ala114_Trp115insTer	coding	Pathogenic
5	174729283	C	CATTG	C174729288A	MSX2	NM_002449.5(MSX2):c.505_508dup:p.Ala170fs	coding	Pathogenic
5	174729323	ACAGAGACC	A	A174729327G	MSX2	NM_002449.5(MSX2):c.548_555del:p.Glu183fs	coding	Pathogenic
5	174730580	G	GA	T174730590A	MSX2	NM_002449.5(MSX2):c.*1006dup	noncoding	Benign
5	176599134	TCCTCCTTCCTC	T	C176599135G	GPRIN1	NM_052899.3(GPRIN1):c.690_700del:p.Arg231fs	coding	Benign
5	177135981	TAG	T	G177135983A	NSD1	NM_022455.4(NSD1):c.880_881del:p.Glu294fs	coding	Pathogenic
5	177135998	TC	T	C177135999A	NSD1	NM_022455.4(NSD1):c.896del:p.Ser299fs	coding	Pathogenic
5	177192002	CAC	T	C177192002T	NSD1	NM_022455.4(NSD1):c.1046_1048delinsT:p.Thr349fs	coding	Pathogenic
5	177204131	AG	A	G177204133C	NSD1	NM_022455.4(NSD1):c.1077del:p.Arg359fs	coding	Pathogenic
5	177204266	CAG	C	G177204268A	NSD1	NM_022455.4(NSD1):c.1212_1213del:p.Lys405fs	coding	Pathogenic
5	177209544	AG	A	G177209546A	NSD1	NM_022455.4(NSD1):c.1237-90del	noncoding	Benign
5	177209660	T	TG	A177209664G	NSD1	NM_022455.4(NSD1):c.1264dup:p.Glu422fs	coding	Pathogenic
5	177209724	GTA	G	A177209726T	NSD1	NM_022455.5(NSD1):c.1327_1328del:p.Ile443fs	coding	Pathogenic
5	177209853	AT	A	T177209855C	NSD1	NM_022455.4(NSD1):c.1456del:p.Ser486fs	coding	Pathogenic
5	177209908	T	GA	T177209908G	NSD1	NM_172349.2(NSD1):c.702delinsGA:p.Asp235fs	coding	Pathogenic
5	177210008	TT	C	T177210008C	NSD1	NM_022455.5(NSD1):c.1609_1610delinsC:p.Phe537fs	coding	Pathogenic
5	177210050	CT	C	T177210053C	NSD1	NM_022455.4(NSD1):c.1654del:p.Ser552fs	coding	Pathogenic
5	177210101	T	TAG	T177210102A	NSD1	NM_022455.4(NSD1):c.1702_1703insAG:p.Phe568Ter	coding	Pathogenic
5	177210136	GAA	G	A177210138G	NSD1	NM_022455.4(NSD1):c.1739_1740del:p.Lys580fs	coding	Pathogenic
5	177210140	GA	G	A177210142T	NSD1	NM_022455.4(NSD1):c.1743del:p.Glu581fs	coding	Pathogenic
5	177210157	TG	T	G177210159T	NSD1	NM_022455.4(NSD1):c.1760del:p.Gly587fs	coding	Pathogenic
5	177210198	C	CA	G177210202A	NSD1	NM_022455.4(NSD1):c.1802dup:p.Cys602fs	coding	Pathogenic
5	177210249	CA	C	A177210253G	NSD1	NM_022455.4(NSD1):c.1854del:p.Lys618_Val619insTer	coding	Pathogenic
5	177210409	TAGAAC	T	A177210413G	NSD1	NM_022455.4(NSD1):c.2014_2018del:p.Thr672fs	coding	Pathogenic
5	177210443	GAA	G	A177210446G	NSD1	NM_022455.5(NSD1):c.2047_2048del:p.Lys683fs	coding	Pathogenic
5	177210443	GA	G	A177210447G	NSD1	NM_022455.4(NSD1):c.2048del:p.Lys683fs	coding	Pathogenic
5	177210445	AAAGAT	A	G177210448A	NSD1	NM_022455.4(NSD1):c.2049_2053del:p.Ile684fs	coding	Pathogenic
5	177210450	T	TA	G177210454A	NSD1	NM_022455.4(NSD1):c.2054dup:p.Tyr686fs	coding	Pathogenic
5	177210461	AG	A	G177210463T	NSD1	NM_022455.4(NSD1):c.2064del:p.Arg688fs	coding	Pathogenic
5	177210492	C	CA	C177210497A	NSD1	NM_022455.5(NSD1):c.2097dup:p.Gln700fs	coding	Pathogenic
5	177210506	CT	C	T177210507C	NSD1	NM_022455.4(NSD1):c.2108del:p.Leu703fs	coding	Pathogenic
5	177210519	CACAT	C	T177210523G	NSD1	NM_022455.4(NSD1):c.2124_2127del:p.His708fs	coding	Pathogenic
5	177210534	T	TA	T177210537A	NSD1	NM_022455.4(NSD1):c.2137dup:p.Met713fs	coding	Pathogenic
5	177210548	AAG	A	A177210551T	NSD1	NM_172349.2(NSD1):c.1343_1344AG[1]:p.Ser449fs	coding	Pathogenic
5	177210559	GCCTGGAA	G	T177210562G	NSD1	NM_022455.4(NSD1):c.2163_2169del:p.Gly722fs	coding	Pathogenic
5	177210564	G	GA	C177210567A	NSD1	NM_022455.4(NSD1):c.2167dup:p.Thr723fs	coding	Pathogenic
5	177210589	CT	G	C177210589G	NSD1	NM_172349.2(NSD1):c.1383_1384delinsG:p.Ser462fs	coding	Pathogenic
5	177210607	T	TA	C177210609A	NSD1	NM_022455.5(NSD1):c.2209dup:p.Thr737fs	coding	Pathogenic
5	177210647	GCT	G	T177210655C	NSD1	NM_172349.2(NSD1):c.1443_1444TC[3]:p.Pro484fs	coding	Pathogenic
5	177210684	C	CCAGTGAGAACTCGTTAATAAAGGGTGGGG	C177210717T	NSD1	NM_022455.4(NSD1):c.2289_2317dup:p.Ala773delinsValArgThrArgTer	coding	Pathogenic
5	177210693	AC	A	C177210694T	NSD1	NM_022455.4(NSD1):c.2295del:p.Ser766fs	coding	Pathogenic
5	177210709	TG	T	G177210713C	NSD1	NM_022455.4(NSD1):c.2314del:p.Ala772fs	coding	Pathogenic
5	177210713	G	GCAGCAAATCAAGCT	T177210729A	NSD1	NM_022455.4(NSD1):c.2316_2329dup:p.Leu777fs	coding	Pathogenic
5	177210732	T	TA	C177210734A	NSD1	NM_022455.4(NSD1):c.2334dup:p.His779fs	coding	Pathogenic
5	177210745	CA	C	A177210748C	NSD1	NM_022455.4(NSD1):c.2349del:p.Lys783fs	coding	Pathogenic
5	177210781	CAAAG	C	G177210785A	NSD1	NM_172349.2(NSD1):c.1579_1582del:p.Glu527fs	coding	Pathogenic
5	177210952	CAT	C	T177210954G	NSD1	NM_022455.5(NSD1):c.2555_2556del:p.Ile852fs	coding	Pathogenic
5	177211010	TC	T	C177211012T	NSD1	NM_022455.4(NSD1):c.2613del:p.Ser871_Leu872insTer	coding	Pathogenic
5	177211014	TAGGTG	T	T177211018A	NSD1	NM_022455.4(NSD1):c.2619_2623del:p.Glu874fs	coding	Pathogenic
5	177211032	ACT	A	C177211035G	NSD1	NM_172349.2(NSD1):c.1827_1828CT[1]:p.Ser610fs	coding	Pathogenic
5	177211036	TG	T	G177211038A	NSD1	NM_022455.4(NSD1):c.2639del:p.Gly880fs	coding	Pathogenic
5	177211066	TTTCTC	T	C177211071G	NSD1	NM_022455.4(NSD1):c.2672_2676del:p.Ser891fs	coding	Pathogenic
5	177211156	TAGTA	T	T177211159A	NSD1	NM_022455.4(NSD1):c.2760_2763del:p.Ser920fs	coding	Pathogenic
5	177211222	TG	T	G177211226A	NSD1	NM_022455.4(NSD1):c.2827del:p.Asp943fs	coding	Pathogenic
5	177211257	C	CT	A177211259T	NSD1	NM_022455.4(NSD1):c.2859dup:p.Lys954Ter	coding	Pathogenic
5	177211289	A	AATTCAGAGAAAAAGGGAGATGGC	C177211314T	NSD1	NM_022455.4(NSD1):c.2892_2914dup:p.Thr972fs	coding	Pathogenic
5	177211313	AC	A	C177211314T	NSD1	NM_022455.4(NSD1):c.2915del:p.Thr972fs	coding	Pathogenic
5	177211350	ACT	A	C177211353G	NSD1	NM_172349.2(NSD1):c.2145_2146CT[1]:p.Ser716fs	coding	Pathogenic
5	177211354	TG	T	G177211355C	NSD1	NM_022455.4(NSD1):c.2956del:p.Ala986fs	coding	Pathogenic
5	177211395	T	TTTAA	G177211396T	NSD1	NM_022455.4(NSD1):c.2996_2997insTTAA:p.Ser1000_Asp1001insTer	coding	Pathogenic
5	177211396	GT	G	T177211397C	NSD1	NM_022455.5(NSD1):c.2998del:p.Ser1000fs	coding	Pathogenic
5	177211402	CAA	C	A177211403G	NSD1	NM_172349.2(NSD1):c.2197_2198del:p.Lys733fs	coding	Pathogenic
5	177211441	CTG	C	G177211445T	NSD1	NM_172349.2(NSD1):c.2237_2238GT[1]:p.Val747fs	coding	Pathogenic
5	177211542	T	TA	G177211546A	NSD1	NM_022455.4(NSD1):c.3146dup:p.Thr1050fs	coding	Pathogenic
5	177211580	AGT	A	T177211584A	NSD1	NM_172349.2(NSD1):c.2376_2377TG[1]:p.Val793fs	coding	Pathogenic
5	177211657	TAAAGAGG	T	A177211659T	NSD1	NM_022455.4(NSD1):c.3260_3266del:p.Lys1087fs	coding	Pathogenic
5	177211666	T	TC	T177211671C	NSD1	NM_022455.5(NSD1):c.3271dup:p.Leu1091fs	coding	Pathogenic
5	177211691	AC	A	C177211692A	NSD1	NM_022455.4(NSD1):c.3293del:p.Thr1098fs	coding	Pathogenic
5	177211692	CA	C	A177211694G	NSD1	NM_022455.4(NSD1):c.3295del:p.Ser1099fs	coding	Pathogenic
5	177211710	A	AT	C177211716T	NSD1	NM_022455.4(NSD1):c.3316dup:p.Ser1106fs	coding	Pathogenic
5	177211777	ACT	A	C177211782T	NSD1	NM_172349.2(NSD1):c.2572_2573CT[2]:p.Ser859fs	coding	Pathogenic
5	177211780	C	CT	C177211782T	NSD1	NM_022455.4(NSD1):c.3382dup:p.Ser1128fs	coding	Pathogenic
5	177211782	CTT	C	T177211785G	NSD1	NM_022455.4(NSD1):c.3386_3387del:p.Ser1128_Phe1129insTer	coding	Pathogenic
5	177211786	TGA	GG	T177211786G	NSD1	NM_022455.4(NSD1):c.3387_3389delinsGG:p.Phe1129fs	coding	Pathogenic
5	177211820	AT	A	T177211821G	NSD1	NM_022455.4(NSD1):c.3422del:p.Met1141fs	coding	Pathogenic
5	177211822	G	GCC	A177211823C	NSD1	NM_022455.4(NSD1):c.3423_3424insCC:p.Asn1142fs	coding	Pathogenic
5	177211847	GGT	G	G177211850A	NSD1	NM_172349.2(NSD1):c.2642_2643GT[1]:p.Val882fs	coding	Pathogenic
5	177211892	CA	C	A177211895G	NSD1	NM_022455.5(NSD1):c.3496del:p.Arg1166fs	coding	Pathogenic
5	177211911	G	GT	A177211913T	NSD1	NM_022455.4(NSD1):c.3513dup:p.Lys1172Ter	coding	Pathogenic
5	177211934	GA	G	A177211935G	NSD1	NM_022455.4(NSD1):c.3536del:p.Glu1179fs	coding	Pathogenic
5	177211944	ACT	A	C177211947G	NSD1	NM_172349.2(NSD1):c.2739_2740CT[1]:p.Asn913_Ser914insTer	coding	Pathogenic
5	177211947	C	CGA	T177211948G	NSD1	NM_022455.4(NSD1):c.3548_3549insGA:p.Glu1184fs	coding	Pathogenic
5	177211947	C	CG	T177211948G	NSD1	NM_022455.4(NSD1):c.3548_3549insG:p.Ser1183_Glu1184insTer	coding	Pathogenic
5	177211947	C	CT	G177211949T	NSD1	NM_022455.4(NSD1):c.3549dup:p.Glu1184Ter	coding	Pathogenic
5	177211968	T	TA	C177211970A	NSD1	NM_022455.4(NSD1):c.3570dup:p.Leu1191fs	coding	Pathogenic
5	177211972	TC	T	C177211974T	NSD1	NM_022455.4(NSD1):c.3575del:p.Pro1192fs	coding	Pathogenic
5	177211976	A	AG	T177211978G	NSD1	NM_022455.4(NSD1):c.3578dup:p.Ser1193fs	coding	Pathogenic
5	177211976	AGTGAC	A	G177211977C	NSD1	NM_022455.4(NSD1):c.3578_3582del:p.Ser1193fs	coding	Pathogenic
5	177211979	G	GT	A177211980T	NSD1	NM_022455.5(NSD1):c.3580_3581insT:p.Asp1194fs	coding	Pathogenic
5	177211980	AC	G	A177211980G	NSD1	NM_022455.4(NSD1):c.3581_3582delinsG:p.Asp1194fs	coding	Pathogenic
5	177212030	GC	A	G177212030A	NSD1	NM_022455.4(NSD1):c.3631_3632delinsA:p.Ala1211fs	coding	Pathogenic
5	177212055	CAG	C	A177212058C	NSD1	NM_172349.2(NSD1):c.2850_2851AG[1]:p.Glu951fs	coding	Pathogenic
5	177212179	T	TG	A177212181G	NSD1	NM_022455.5(NSD1):c.3781dup:p.Glu1261fs	coding	Pathogenic
5	177212184	TC	T	C177212187T	NSD1	NM_022455.5(NSD1):c.3788del:p.Pro1263fs	coding	Pathogenic
5	177235891	TC	T	C177235892A	NSD1	NM_022455.4(NSD1):c.3868del:p.Gln1290fs	coding	Pathogenic
5	177235909	GA	G	A177235915C	NSD1	NM_022455.5(NSD1):c.3891del:p.Lys1297fs	coding	Pathogenic
5	177238235	AGGTAA	G	A177238235G	NSD1	NM_022455.4(NSD1):c.3922-2_3925delinsG	noncoding	Pathogenic
5	177238252	G	GA	G177238255A	NSD1	NM_022455.4(NSD1):c.3939dup:p.Glu1314fs	coding	Pathogenic
5	177238281	A	ATC	A177238285C	NSD1	NM_022455.4(NSD1):c.3968_3969dup:p.Ser1324fs	coding	Pathogenic
5	177238333	GA	G	A177238335G	NSD1	NM_022455.4(NSD1):c.4020del:p.Glu1341fs	coding	Pathogenic
5	177238365	G	GT	G177238371T	NSD1	NM_022455.5(NSD1):c.4055dup:p.Leu1352fs	coding	Pathogenic
5	177238370	TGGAG	T	A177238373C	NSD1	NM_022455.4(NSD1):c.4058_4061del:p.Glu1353fs	coding	Pathogenic
5	177238438	GT	G	T177238439G	NSD1	NM_022455.5(NSD1):c.4124del:p.Val1375fs	coding	Pathogenic
5	177239776	CAAAG	C	G177239780A	NSD1	NM_022455.4(NSD1):c.4217_4220del:p.Arg1406fs	coding	Pathogenic
5	177239776	CA	C	A177239779G	NSD1	NM_022455.5(NSD1):c.4216del:p.Arg1406fs	coding	Pathogenic
5	177239786	CAACT	C	C177239789G	NSD1	NM_022455.5(NSD1):c.4226_4229del:p.Thr1409fs	coding	Pathogenic
5	177239840	A	AG	A177239846G	NSD1	NM_022455.4(NSD1):c.4282dup:p.Asp1428fs	coding	Pathogenic
5	177239859	TA	T	A177239864G	NSD1	NM_172349.2(NSD1):c.3494del:p.Lys1165fs	coding	Pathogenic
5	177239859	T	TA	G177239865A	NSD1	NM_022455.4(NSD1):c.4301dup:p.Cys1435fs	coding	Pathogenic
5	177244266	TG	T	G177244268A	NSD1	NM_022455.4(NSD1):c.4376del:p.Gly1459fs	coding	Pathogenic
5	177244270	GGTGA	G	G177244273A	NSD1	NM_022455.4(NSD1):c.4378+3_4378+6del	coding	Pathogenic
5	177246776	A	AAAGAGATTCC	G177246788A	NSD1	NM_022455.4(NSD1):c.4479_4488dup:p.Gly1497fs	coding	Pathogenic
5	177248165	AT	A	T177248171C	NSD1	NM_022455.4(NSD1):c.4498-10del	noncoding	Benign/Likely_benign
5	177248211	AG	A	G177248212C	NSD1	NM_022455.4(NSD1):c.4529del:p.Ser1510fs	coding	Pathogenic
5	177248314	ATGTC	A	T177248319A	NSD1	NM_172349.2(NSD1):c.3825_3828TGTC[1]:p.Cys1277fs	coding	Pathogenic
5	177251743	TG	T	G177251746T	NSD1	NM_022455.4(NSD1):c.4658del:p.Gly1553fs	coding	Pathogenic
5	177251788	AC	A	C177251790T	NSD1	NM_022455.5(NSD1):c.4702del:p.Leu1568fs	coding	Pathogenic
5	177251791	TG	T	G177251793A	NSD1	NM_022455.4(NSD1):c.4705del:p.Glu1569fs	coding	Pathogenic
5	177251818	CAA	C	A177251819G	NSD1	NM_022455.4(NSD1):c.4731_4732del:p.Gly1579fs	coding	Pathogenic
5	177251818	C	CA	G177251821A	NSD1	NM_022455.4(NSD1):c.4732dup:p.Arg1578fs	coding	Pathogenic
5	177251832	AT	A	T177251833C	NSD1	NM_022455.4(NSD1):c.4745del:p.Ile1582fs	coding	Pathogenic
5	177256982	TG	T	G177256986A	NSD1	NM_022455.4(NSD1):c.4801del:p.Glu1601fs	coding	Pathogenic
5	177257003	C	CCT	T177257006C	NSD1	NM_022455.4(NSD1):c.4819_4820dup:p.Leu1608fs	coding	Pathogenic
5	177257010	C	GA	C177257010G	NSD1	NM_022455.4(NSD1):c.4825delinsGA:p.Pro1609fs	coding	Pathogenic
5	177257066	T	TAA	T177257068A	NSD1	NM_022455.4(NSD1):c.4882_4883insAA:p.Met1628fs	coding	Pathogenic
5	177257116	A	AT	G177257118T	NSD1	NM_022455.4(NSD1):c.4932dup:p.Ala1645fs	coding	Pathogenic
5	177257133	AAT	A	A177257134G	NSD1	NM_022455.4(NSD1):c.4949_4950del:p.Asn1650fs	coding	Pathogenic
5	177259998	T	TG	C177260000G	NSD1	NM_022455.4(NSD1):c.4977dup:p.Arg1660fs	coding	Pathogenic
5	177260038	CT	C	T177260042G	NSD1	NM_022455.4(NSD1):c.5020del:p.Cys1674fs	coding	Pathogenic
5	177260131	G	GC	A177260133C	NSD1	NM_022455.4(NSD1):c.5110dup:p.His1704fs	coding	Pathogenic
5	177267656	CTG	C	G177267658A	NSD1	NM_022455.5(NSD1):c.5243_5244del:p.Asp1747_Cys1748insTer	coding	Pathogenic
5	177267691	TTGTC	T	T177267694G	NSD1	NM_172349.2(NSD1):c.4472_4475del:p.Val1491fs	coding	Pathogenic
5	177269638	TC	T	C177269640T	NSD1	NM_022455.5(NSD1):c.5342del:p.Pro1781fs	coding	Pathogenic
5	177269689	CTTTTTTG	C	T177269690G	NSD1	NM_022455.4(NSD1):c.5392_5398del:p.Phe1798fs	coding	Pathogenic
5	177269703	A	ATGAC	A177269709G	NSD1	NM_022455.4(NSD1):c.5407_5410dup:p.Tyr1804Ter	coding	Pathogenic
5	177269733	TCTTC	T	T177269735C	NSD1	NM_022455.4(NSD1):c.5437_5440del:p.Phe1813fs	coding	Pathogenic
5	177273776	CAT	C	T177273780A	NSD1	NM_172349.2(NSD1):c.4809_4810TA[1]:p.Ile1604fs	coding	Pathogenic
5	177280640	AC	A	C177280641T	NSD1	NM_022455.4(NSD1):c.5699del:p.Thr1900fs	coding	Pathogenic
5	177280650	AC	A	C177280654T	NSD1	NM_022455.4(NSD1):c.5712del:p.Cys1905fs	coding	Pathogenic
5	177280662	T	TA	G177280664A	NSD1	NM_022455.5(NSD1):c.5721dup:p.Asp1908fs	coding	Pathogenic
5	177280665	AC	A	C177280666T	NSD1	NM_022455.4(NSD1):c.5724del:p.Ser1909fs	coding	Pathogenic
5	177280707	CCA	C	C177280710G	NSD1	NM_022455.5(NSD1):c.5766_5767CA[1]:p.Thr1923fs	coding	Pathogenic
5	177280731	G	GC	T177280733C	NSD1	NM_022455.4(NSD1):c.5790dup:p.Cys1931fs	coding	Pathogenic
5	177280833	AG	A	G177280835T	NSD1	NM_022455.4(NSD1):c.5892+1del	coding	Pathogenic
5	177282470	A	AG	T177282471G	NSD1	NM_022455.4(NSD1):c.5898_5899insG:p.Phe1967fs	coding	Pathogenic
5	177282474	GT	G	T177282475G	NSD1	NM_022455.4(NSD1):c.5903del:p.Val1968fs	coding	Pathogenic
5	177282482	GT	G	T177282483A	NSD1	NM_022455.4(NSD1):c.5911del:p.Tyr1971fs	coding	Pathogenic
5	177282514	GC	G	C177282515A	NSD1	NM_022455.4(NSD1):c.5943del:p.Glu1980_Cys1981insTer	coding	Pathogenic
5	177282565	TG	T	G177282566C	NSD1	NM_022455.4(NSD1):c.5994del:p.Met1998fs	coding	Pathogenic
5	177282569	C	CT	A177282570T	NSD1	NM_022455.4(NSD1):c.5997_5998insT:p.Thr2000fs	coding	Pathogenic
5	177283773	TTTTGGAATTCTAGGACCGAA	C	T177283773C	NSD1	NM_022455.4(NSD1):c.6010-14_6016delinsC	noncoding	Pathogenic
5	177283796	A	ATT	G177283799T	NSD1	NM_022455.4(NSD1):c.6020_6021dup:p.Asp2008fs	coding	Pathogenic
5	177283861	AAC	A	C177283865G	NSD1	NM_022455.5(NSD1):c.6086_6087CA[1]:p.Gln2030fs	coding	Pathogenic
5	177283869	A	AGT	G177283873T	NSD1	NM_022455.4(NSD1):c.6094_6095dup:p.Trp2032fs	coding	Pathogenic
5	177283888	T	TA	C177283890A	NSD1	NM_022455.4(NSD1):c.6112dup:p.Thr2038fs	coding	Pathogenic
5	177288830	AC	A	C177288832T	NSD1	NM_022455.4(NSD1):c.6165del:p.Phe2056fs	coding	Pathogenic
5	177288870	CTGTT	C	T177288873C	NSD1	NM_022455.5(NSD1):c.6206_6209del:p.Val2069fs	coding	Pathogenic
5	177288883	T	TG	A177288886G	NSD1	NM_022455.4(NSD1):c.6218dup:p.Ala2074fs	coding	Pathogenic
5	177291982	C	CA	G177291986A	NSD1	NM_022455.4(NSD1):c.6290dup:p.Lys2098fs	coding	Pathogenic
5	177291985	AG	A	G177291986A	NSD1	NM_022455.4(NSD1):c.6291del:p.Lys2098fs	coding	Pathogenic
5	177292000	A	AGCTGT	A177292003T	NSD1	NM_022455.4(NSD1):c.6307_6308insTGTGC:p.Gln2103fs	coding	Pathogenic
5	177292005	CAG	C	A177292006G	NSD1	NM_022455.4(NSD1):c.6311_6312del:p.Gln2104fs	coding	Pathogenic
5	177292009	GA	G	A177292012G	NSD1	NM_022455.4(NSD1):c.6317del:p.Lys2106fs	coding	Pathogenic
5	177292036	C	CA	G177292040A	NSD1	NM_022455.4(NSD1):c.6344dup:p.Glu2116fs	coding	Pathogenic
5	177292057	GT	G	T177292061A	NSD1	NM_022455.4(NSD1):c.6366del:p.Phe2122fs	coding	Pathogenic
5	177292115	AG	A	G177292116T	NSD1	NM_172349.2(NSD1):c.5614del:p.Val1872fs	coding	Pathogenic
5	177292125	GC	G	C177292126A	NSD1	NM_022455.4(NSD1):c.6431del:p.Ala2144fs	coding	Pathogenic
5	177292131	T	TG	T177292133G	NSD1	NM_022455.4(NSD1):c.6437dup:p.Cys2146fs	coding	Pathogenic/Likely_pathogenic
5	177292134	C	CT	C177292136T	NSD1	NM_022455.4(NSD1):c.6440dup:p.Asn2148fs	coding	Pathogenic
5	177292143	A	AC	A177292146C	NSD1	NM_022455.4(NSD1):c.6450dup:p.Lys2151fs	coding	Pathogenic
5	177292153	CAGCAGGTTGG	C	A177292154T	NSD1	NM_022455.4(NSD1):c.6459_6463+5del	coding	Pathogenic
5	177293851	GCATCAGTGTGA	G	A177293856T	NSD1	NM_022455.5(NSD1):c.6488_6498del:p.Gln2163fs	coding	Pathogenic
5	177293886	CCTT	C	T177293889G	NSD1	NM_172349.2(NSD1):c.5714_5716del:p.Phe1905del	coding	Pathogenic/Likely_pathogenic
5	177293901	G	GC	A177293906C	NSD1	NM_022455.4(NSD1):c.6537dup:p.Ser2180fs	coding	Pathogenic
5	177293904	CCAGCTCCTTTTGTAAGCAG	C	G177293907T	NSD1	NM_022455.4(NSD1):c.6539_6557del:p.Ser2180fs	coding	Pathogenic
5	177293906	A	AC	G177293907C	NSD1	NM_022455.4(NSD1):c.6538_6539insC:p.Ser2180fs	coding	Pathogenic
5	177293909	TC	T	C177293911T	NSD1	NM_022455.5(NSD1):c.6543del:p.Cys2183fs	coding	Pathogenic
5	177295304	GCA	G	C177295307G	NSD1	NM_172349.2(NSD1):c.7130_7131CA[1]:p.Gln2378fs	coding	Pathogenic
5	177295332	CACAG	C	G177295336T	NSD1	NM_022455.4(NSD1):c.7968_7971del:p.Gln2656fs	coding	Pathogenic
5	177295400	CT	C	T177295402C	NSD1	NM_022455.4(NSD1):c.8034del:p.Pro2679fs	coding	Pathogenic
5	177295402	TC	T	C177295404A	NSD1	NM_022455.4(NSD1):c.8036del:p.Pro2679fs	coding	Pathogenic
5	177295409	CT	C	T177295411A	NSD1	NM_022455.4(NSD1):c.8043del:p.Asn2682fs	coding	Pathogenic
5	177300057	GC	G	C177300070G	NSD1	NM_022455.4(NSD1):c.*4611del	noncoding	Benign
5	177386019	GC	TT	G177386019T	SLC34A1	NM_003052.5(SLC34A1):c.142_143delinsTT:p.Ala48Phe	coding	Pathogenic
5	177386231	GGTCCCCAAGCTGCGCCAGGCT	G	T177386233G	SLC34A1	NM_003052.5(SLC34A1):c.272_292del:p.Val91_Ala97del	coding	Benign
5	177386492	G	GGATCCTGGTGACCGTGCTGGT	C177386515A	SLC34A1	NM_003052.5(SLC34A1):c.460_480dup:p.Ile154_Val160dup	coding	Pathogenic
5	177404171	CTCCTTCCCCCCCCCACTTCCTAACCTCCCGGGGTCTGGGACTGAGGCGGGGTCCGGGTCGTGGGCTGAGGCT	C	C177404174G	F12	NM_000505.3(F12):c.971_1018+24del	noncoding	Pathogenic
5	177404302	C	CGGAGGCGCCGCCTGGGTT	G177404323A	F12	NM_000505.3(F12):c.894_911dup:p.Gln300_Thr305dup	coding	Pathogenic
5	177513036	T	TCGAG	A177513042G	DDX41	NM_016222.4(DDX41):c.1273_1276dup:p.Glu426fs	coding	Pathogenic
5	177513440	C	CT	C177513443T	DDX41	NM_016222.4(DDX41):c.1142dup:p.Ile382fs	coding	Pathogenic
5	177513778	T	TA	G177513780A	DDX41	NM_016222.4(DDX41):c.1004dup:p.Asp336fs	coding	Pathogenic
5	177514995	A	CG	A177514995C	DDX41	NM_016222.4(DDX41):c.719delinsCG:p.Ile240fs	coding	Pathogenic
5	177515944	T	TCATC	A177515949C	DDX41	NM_016222.4(DDX41):c.415_418dup:p.Asp140delinsGlyTer	coding	Pathogenic
5	177516168	CT	C	T177516170C	DDX41	NM_016222.4(DDX41):c.323del:p.Lys108fs	coding	Pathogenic
5	177516353	G	GTT	G177516354T	DDX41	NM_016222.4(DDX41):c.232_233insAA:p.Pro78fs	coding	Pathogenic
5	177516430	C	CT	G177516432T	DDX41	NM_016222.4(DDX41):c.155dup:p.Arg53fs	coding	Pathogenic
5	177516913	T	TCCTA	T177516921A	DDX41	NM_016222.4(DDX41):c.27+2_27+5dup	noncoding	Benign
5	177994145	ACT	A	T177994151G	PROP1	NM_006261.4(PROP1):c.301_302del	coding	Pathogenic
5	177994296	CCT	C	T177994298C	PROP1	NM_006261.4(PROP1):c.150_151del:p.Gly52fs	coding	Pathogenic
5	177994297	CT	C	T177994298C	PROP1	NM_006261.4(PROP1):c.150del:p.Arg53fs	coding	Pathogenic
5	177994323	GGTGGAGCACTCGA	G	G177994326C	PROP1	NM_006261.4(PROP1):c.112_124del:p.Ser38fs	coding	Pathogenic
5	177994334	CG	A	C177994334A	PROP1	NM_006261.5(PROP1):c.113_114delinsT:p.Ser38fs	coding	Pathogenic
5	177995842	G	GT	C177995844T	PROP1	NM_006261.4(PROP1):c.91dup:p.Thr31fs	coding	Pathogenic
5	178986500	CA	C	A178986501G	GRM6	NM_000843.4(GRM6):c.1753del:p.Trp585fs	coding	Pathogenic
5	178988981	AG	GA	A178988981G	GRM6	NM_000843.4(GRM6):c.1307_1308delinsTC:p.Thr436Ile	coding	Benign
5	178989299	AC	A	C178989301T	GRM6	NM_000843.4(GRM6):c.1118del:p.Gly373fs	coding	Pathogenic
5	178992010	AC	A	C178992013G	GRM6	NM_000843.4(GRM6):c.577del:p.Val193fs	coding	Pathogenic
5	179121447	GGCCCCAGCAGA	G	C179121449G	ADAMTS2	NM_014244.5(ADAMTS2):c.3178+203_3178+213del	noncoding	Benign
5	179122324	G	GCACAGGCACCCCCCACTCA	G179122332A	ADAMTS2	NM_014244.5(ADAMTS2):c.3088+319_3088+320insGCCTGTGTGAGTGGGGGGT	noncoding	Benign
5	179125003	AG	A	G179125006C	ADAMTS2	NM_014244.5(ADAMTS2):c.2927del:p.Pro976fs	coding	Pathogenic
5	179153492	G	GC	G179153495C	ADAMTS2	NM_014244.5(ADAMTS2):c.1513dup:p.Ala505fs	coding	Pathogenic
5	179207561	G	GA	C179207564A	ADAMTS2	NM_014244.5(ADAMTS2):c.842dup:p.His282fs	coding	Pathogenic
5	179207712	GC	G	C179207716T	ADAMTS2	NC_000005.10:g.179207716del	coding	Pathogenic
5	179345258	G	GGCA	G179345285A	ADAMTS2	NM_014244.5(ADAMTS2):c.47_49TGC[9]:p.Leu23dup	coding	Benign
5	179345273	AG	A	G179345274C	ADAMTS2	NM_014244.5(ADAMTS2):c.55del:p.Leu19fs	coding	Pathogenic
5	179345296	CA	C	A179345297G	ADAMTS2	NM_014244.5(ADAMTS2):c.32del:p.Leu11fs	coding	Pathogenic
5	179616220	TGTTAA	T	T179616227A	HNRNPH1	NM_005520.3(HNRNPH1):c.1208-7_1208-3del	noncoding	Benign
5	179821110	G	GC	G179821112C	SQSTM1	NM_003900.5(SQSTM1):c.175dup:p.Arg59fs	coding	Pathogenic
5	179823864	AAG	A	A179823867T	SQSTM1	NM_003900.5(SQSTM1):c.309_310AG[1]:p.Glu104fs	coding	Pathogenic
5	179824078	CCTGT	C	T179824082A	SQSTM1	NM_003900.5(SQSTM1):c.526_529del:p.Ser176fs	coding	Pathogenic
5	179833082	AC	A	C179833087G	SQSTM1	NM_003900.5(SQSTM1):c.810del:p.Val271fs	coding	Pathogenic
5	179833095	CAG	C	A179833100T	SQSTM1	NM_003900.5(SQSTM1):c.819_820AG[2]:p.Ser275fs	coding	Pathogenic
5	179836453	A	AT	G179836456T	SQSTM1	NM_003900.5(SQSTM1):c.1185dup:p.Glu396Ter	coding	Pathogenic
5	179836493	A	AT	G179836495T	SQSTM1	NM_003900.5(SQSTM1):c.1224dup:p.Glu409Ter	coding	Pathogenic
5	180614073	GAGA	G	A180614077T	FLT4	NM_182925.5(FLT4):c.3320_3322TCT[1]:p.Phe1108del	coding	Pathogenic
5	180614180	CTGGGGAGACAGAGGGAAGCTTGTCCCGTGGTGGA	C	A180614190G	FLT4	NM_182925.5(FLT4):c.3220-35_3220-2del	noncoding	Benign
5	180622765	G	GC	A180622769C	FLT4	NM_182925.5(FLT4):c.1622dup:p.Gln542fs	coding	Pathogenic
5	180625831	TGGCTGTGCAGGGGACCTGA	T	T180625837G	FLT4	NM_182925.5(FLT4):c.1421+19_1421+37del	noncoding	Benign
5	180631747	CG	C	G180631754T	FLT4	NM_182925.5(FLT4):c.89del:p.Pro30fs	coding	Pathogenic
6	1610445	CATGCAGGCGCGCTACTCCGTGTCCAGCCCCAACTCCCTGGGAGTGGTGCCCTACCTCGGCGGCGAGCAGAGCTACTACCGCGCGGCGGCCGCGGCGGCCGGGGGCGGCTACACCGCCATGCCGGCCCCCATGAGCGTGTACTCGCACCCTGCGCACGCCGAGCAGTACCCGGGCGGCATGGCCCGCGCCTACGGGCCCTACACGCCGCAGCCGCAGCCCAAGGACATGGTGAAGCCGCCCTATAGCTACATCGCGCTCATCACCATGGCCATCCAGAACGCCCCGGACAAGAAGATCACCCTGAACGGCATCTACCAGTTCATCATGGACCGCTTCCCCTTCTACCGGGACAACAAGCAGGGCTGGCAGAACAGCATCCGCCACAACCTCTCGCTCAACGAGTGCTTCGTCAAGGTGCCGCGCGACGACAAGAAGCCGGGCAAGGGCAGCTACTGGACGCTGGACCCGGACTCCTACAACATGTTCGAGAACGGCAGCTTCCTGCGGCGGCGGCGGCGCTTCAAGAAGAAGGACGCGGTGAAGGACAAGGAGGAGAAGGACAGGCTGCACCTCAAGGAGCCGCCCCCGCCCGGCCGCCAGCCCCCGCCCGCGCCGCCGGAGCAGGCCGACGGCAACGCGCCCGGTCCGCAGCCGCCGCCCGTGCGCATCCAGGACATCAAGACCGAGAACGGTACGTGCCCCTCGCCGCCCCAGCCCCTGTCCCCGGCCGCCGCCCTGGGCAGCGGCAGCGCCGCCGCGGTGCCCAAGATCGAGAGCCCCGACAGCAGCAGCAGCAGCCTGTCCAGCGGGAGCAGCCCCCCGGGCAGCCTGCCGTCGGCGCGGCCGCTCAGCCTGGACGGTGCGGATTCCGCGCCGCCGCCGCCCGCGCCCTCCGCCCCGCCGCCGCACCATAGCCAGGGCTTCAGCGTGGACAACATCATGACGTCGCTGCGGGGGTCGCCGCAGAGCGCGGCCGCGGAGCTCAGCTCCGGCCTTCTGGCCTCGGCGGCCGCGTCCTCGCGCGCGGGGATCGCACCCCCGCTGGCGCTCGGCGCCTACTCGCCCGGCCAGAGCTCCCTCTACAGCTCCCCCTGCAGCCAGACCTCCAGCGCGGGCAGCTCGGGCGGCGGCGGCGGCGGCGCGGGGGCCGCGGGGGGCGCGGGCGGCGCCGGGACCTACCACTGCAACCTGCAAGCCATGAGCCTGTACGCGGCCGGCGAGCGCGGGGGCCACTTGCAGGGCGCGCCCGGGGGCGCGGGCGGCTCGGCCGTGGACGACCCCCTGCCCGACTACTCTCTGCCTCCGGTCACCAGCAGCAGCTCGTCGTCCCTGAGTCACGGCGGCGGCGGCGGCGGCGGCGGGGGAGGCCAGGAGGCCGGCCACCACCCTGCGGCCCACCAAGGCCGCCTCACCTCGTGGTACCTGAACCAGGCGGGCGGAGACCTGGGCCACTTGGCGAGCGCGGCGGCGGCGGCGGCGGCCGCAGGCTACCCGGGCCAGCAGCAGAACTTCCACTCGGTGCGGGAGATGTTCGAGTCACAGAGGATCGGCTTGAACAACTCTCCAGTGAACGGGAATAGTAGCTGTCAAATGGCCTTCCCTTCCAGCCAGTCTCTGTACCGCACGTCCGGAGCTTTCGTCTACGACTGTAGCAAGTTTTGACACACCCTCAAAGCCGAACTAAATCGAACCCCAAAGCAGGAAAAGCTAAAGGAACCCATCAAGGCAAAATCGAAACTAAAAAAAAAAAATCCAATTAAAAAAAACCCCTGAGAATATTCACCACACCAGCGAACAGAATATCCCTCCAAAAATTCAGCTCACCAGCACCAGCACGAAGAAAACTCTATTTTCTTAACCGATTAATTCAGAGCCACCTCCACTTTGCCTTGTCTAAATAAACAAACCCGTAAACTGTTTTATACAGAGACAGCAAAATCTTGGTTTATTAAAGGACAGTGTTACTCCAGATAACACGTAAGTTTCTTCTTGCTTTTCAGAGACCTGCTTTCCCCTCCTCCCGTCTCCCCTCTCTTGCCTTCTTCCTTGCCTCTCACCTGTAAGATATTATTTTATCCTATGTTGAAGGGAGGGGGAAAGTCCCCGTTTATGAAAGTCGCTTTCTTTTTATTCATGGACTTGTTTTAAAATGTAAATTGCAACATAGTAATTTATTTTTAATTTGTAGTTGGATGTCGTGGACCAAACGCCAGAAAGTGTTCCCAAAACCTGACGTTAAATTGCCTGAAACTTTAAATTGTGCTTTTTTTCTCATTATAAAAAGGGAAACTGTATTAATCTTATTCTATCCTCTTTTCTTTCTTTTTGTTGAACATATTCATTGTTTGTTTATTAATAAATTACCATTCAGTTTGAATGAGACCTATATGTCTGGATACTTTAATAGAGCTTTAATTATTACGAAAAAAGATTTCAGAGATAAAACACTAGAAGTTACCTATTCTCCACCTAAATCTCTGAAAAATGGAGAAACCCTCTGACTAGTCCATGTCAAATTTTACTAAAAGTCTTTTTGTTTAGATTTATTTTCCTGCAGCATCTTCTGCAAAATGTACTATATAGTCAGCTTGCTTTGAGGCTAGTAAAAAGATATTTTTCTAAACAGATTGGAGTTGGCATATAAACAAATACGTTTTCTCACTAATGACAGTCCATGATTCGGAAATTTTAAGCCCATGAATCAGCCGCGGTCTTACCACGGTGATGCCTGTGTGCCGAGAGATGGGACTGTGCGGCCAGATATGCACAGATAAATATTTGGCTTGTGTATTCCATATAAAATTGCAGTGCATATTATACATCCCTGTGAGCCAGATGCTGAATAGATATTTTCCTATTATTTCAGTCCTTTATAAAAGGAAAAATAAACCAGTTTTTAAATGTATGTATATAATTCTCCCCCATTTACAATCCTTCATGTATTACATAGAAGGATTGCTTTTTTAAAAATATACTGCGGGTTGGAAAGGGATATTTAATCTTTGAGAAACTATTTTAGAAAATATGTTTGTAGAACAATTATTTTTGAAAAAGATTTAAAGCAATAACAAGAAGGAAGGCGAGAGGAGCAGAACATTTTGGTCTAGGGTGGTTTCTTTTTAAACCATTTTTTCTTGTTAATTTACAGTTAAACCTAGGGGACAATCCGGATTGGCCCTCCCCCTTTTGTAAATAACCCAGGAAATGTAATAAATTCATTATCTTAGGGTGATCTGCCCTGCCAATCAGACTTTGGGGAGATGGCGATTTGATTACAGACGTTCGGGGGGGTGGGGGGCTTGCAGTTTGTTTTGGAGATAATACAGTTTCCTGCTATCTGCCGCTCCTATCTAGAGGCAACACTTAAGCAGTAATTGCTGTTGCTTGTTGTCAAAATTTGATCATTGTTAAAGGATTGCTGCAAATAAATACACTTTAATTTCAGTCAAAAA	C	A1610446C	FOXC1	NM_001453.3(FOXC1):c.1_*1790del:p.Met1fs	coding	Pathogenic
6	1610464	G	GT	G1610466T	FOXC1	NM_001453.3(FOXC1):c.20dup:p.Ser8fs	coding	Pathogenic
6	1610525	GCGCGGCGGC	G	C1610537G	FOXC1	NM_001453.3(FOXC1):c.83_91CGGCGGCCG[1]:p.Ala31_Ala33del	coding	Benign/Likely_benign
6	1610544	CGGGGGCGGCT	C	G1610545A	FOXC1	NM_001453.3(FOXC1):c.100_109del:p.Gly34fs	coding	Pathogenic
6	1610557	ACCGCCATG	A	C1610561G	FOXC1	NM_001453.3(FOXC1):c.116_123del:p.Ala39fs	coding	Pathogenic
6	1610733	C	CA	G1610736A	FOXC1	NM_001453.3(FOXC1):c.290dup:p.Lys98fs	coding	Pathogenic
6	1610742	CACCCTGAACGGCATCTACCAGTTCATCATGG	C	C1610746G	FOXC1	NM_001453.3(FOXC1):c.301_331del:p.Leu101fs	coding	Pathogenic
6	1610791	CG	C	G1610794A	FOXC1	NM_001453.3(FOXC1):c.349del:p.Asp117fs	coding	Pathogenic
6	1610851	TTCG	T	G1610854A	FOXC1	NM_001453.3(FOXC1):c.409_411del:p.Val137del	coding	Pathogenic
6	1610892	CA	C	A1610893G	FOXC1	NM_001453.3(FOXC1):c.448del:p.Ser150fs	coding	Pathogenic
6	1610895	C	CT	A1610897T	FOXC1	NM_001453.3(FOXC1):c.451dup:p.Tyr151fs	coding	Pathogenic
6	1610922	C	CAACAT	G1610928A	FOXC1	NM_001453.3(FOXC1):c.478_482dup:p.Met161fs	coding	Pathogenic
6	1611037	GGCCGCCAGCCCCCGCCCGC	G	A1611044G	FOXC1	NM_001453.3(FOXC1):c.599_617del:p.Gln200fs	coding	Pathogenic
6	1611109	CGCATCCAGGACATCAA	C	C1611111A	FOXC1	NM_001453.3(FOXC1):c.666_681del:p.Ile223fs	coding	Pathogenic/Likely_pathogenic
6	1611141	GT	G	T1611142G	FOXC1	NM_001453.3(FOXC1):c.697del:p.Cys233fs	coding	Pathogenic
6	1611153	G	GC	A1611158C	FOXC1	NM_001453.3(FOXC1):c.712dup:p.Gln238fs	coding	Pathogenic
6	1611162	CCT	C	C1611163G	FOXC1	NM_001453.3(FOXC1):c.718_719del:p.Leu240fs	coding	Pathogenic
6	1611193	AGCGCCGCC	A	C1611197G	FOXC1	NM_001453.3(FOXC1):c.752_759del:p.Ala251fs	coding	Pathogenic
6	1611368	TCAGCGTGGACAACATCATGACGTCG	T	A1611370T	FOXC1	NM_001453.3(FOXC1):c.925_949del:p.Ser309fs	coding	Pathogenic
6	1611397	CG	C	G1611402T	FOXC1	NM_001453.3(FOXC1):c.957del:p.Ser320fs	coding	Pathogenic
6	1611567	G	GGGC	C1611587G	FOXC1	NM_001453.3(FOXC1):c.1124_1126GCG[7]:p.Gly380dup	coding	Benign
6	1611574	GGCGGCGGCGGC	G	C1611579G	FOXC1	NM_001453.3(FOXC1):c.1134_1144del:p.Gly380fs	coding	Pathogenic
6	1611585	C	CGCG	G1611590C	FOXC1	NM_001453.3(FOXC1):c.1142_1144dup:p.Ala381dup	coding	Benign
6	1611737	ACT	A	C1611742G	FOXC1	NM_001453.3(FOXC1):c.1293_1294CT[2]:p.Leu433fs	coding	Pathogenic
6	1611781	C	CACGGCG	G1611788A	FOXC1	NM_001453.3(FOXC1):c.1337_1342dup:p.Gly448_Gly449insAspGly	coding	Pathogenic
6	1611782	A	ACGG	G1611807C	FOXC1	NM_001453.3(FOXC1):c.1338_1340CGG[9]:p.Gly456dup	coding	Benign
6	1611782	ACGG	A	C1611804G	FOXC1	NM_001453.3(FOXC1):c.1338_1340CGG[7]:p.Gly456del	coding	Benign
6	2836252	T	TA	T2836262A	SERPINB1	NM_030666.4(SERPINB1):c.425-11dup	noncoding	Benign
6	3082950	GAACCTGCCCAGTGCAACCATTTCTGGAAAATTTACCGTACCTTATGTATAATGGATAAGCCCAAAATTGAAAGTCAGATCTGATTTGCTTACGGCCTTCACCAAACAATCCCAGTGGCTCAATGTCTTTCGCAGATCGCAGACCTCGGCCTTGCCTCCTTTAAGATGTGGAGCAAACTGAATAATGAAGAGCACAATGAGCTGAGGGAAGTGGACGGCACCGCTAAGAAGAATGGCGGCACCCTCTACTACATGGCGCCCGAGCACCTGAATGACGTCAACGCAAAGCCCACAGAGAAGTCGGATGTGTACAGCTTTGCTGTAGTACTCTGGGCGATATTTGCAAATAAGGAGCCATATGAAAGTAAGGCATTACTTACTTTCCACTGCCGTCCCCTCAGCATCTACACGCACTGTGCCTGGAACTAATAGGTGCCCAGTAAATTTTTGTTGAATGAATGAGTAATCCCATTTAGGAATCAGTGATCATAGGATGAATAGGAACCTCGATAGTGTGTCATTAGCTGGAGAGGTGCTGTGAAATTCCAGGGTTCTTCCTAGACAGGAAAGTTGATTGTTTCTGCTTGTGAGGACTTAGCCTTTCACACTACAAGGCATACACTTCATACTTTCACTCATTCACTTGCTCCTTCATTCAAGAATTATTTCTTTTCAGTCCCTACTGTGGGCACTTGAGTCGGCATTGGGAATATAAAGATGAGTAAGTCGTGGCTTGTGTAGGATAGAGACACTCTGCAGTTTGTTAAGTGCATAAACTGATGGATGTTGTCCTACATACTCTTCTTGGGTGATCATCAGCTCCCATGGTTTGATGATCATCTCTTTGCAAATGCTTCTTAAATCTGTGTCTCTGGCTCTGGAATGGATATCCACTTGTCTTACAGTCAGATCCATCGCAGGTACCAGAGGAACCTCCAAAGCAGCATCCCCCAAACACATCCTGTCGACACTGTCCTGCAGCTCGCCCCGCTTCACCCCTCTTCATATGCTTGGGAAGTGGCATCGCCATCCTTTTACCAAGTTGTTGCCCAATAAGAAACTTCAGAGTCATCCCAGACTCGCCCTTGCCCCTCTCTCCCACATTCTATCAGATCTCAAAACCTGTGAATTCAAGATATATGTATGACTCAAGATATATCTGCAACCCATCTGCCTTTCTCTGTCTCCACTGGCCTCTGCTCAGTTCAAACCCTCCTCGTTTCTGCAGCAGGCTCCTTCCACCGTCCACCATTCATGTGGCAGCCAAAATGGTCGTCCTAAAAGGCACATGCAACCCTCTCCCTCACATATTGGAAATCCTTCCCAGATGCTCTGTGGTCTTCAGGATGAAGTTCGAATTCCTCAGCGTGGAATAAAAGGCCTTCATGTTCTGGCCTTTGCTTCTCTACTGGCCTCGTCCCTAACCCTCCCTTCTTTGTCAGTGTGCAGTTACACTGAGGAATTTGTGGGATGCGTCATGATCTCTGTAACTTCTAGTCTGTTGATATCCTGCTTCTCTTCCTGGAGTCCTCCTCCTTAAGTCTCCCTTTCCCATTCTTTACCTGCTAATTTTTCTGGACTCAACAAAGCCTTCCTGGACCTTTTTAGTCAGGTTTGTGCTACTGGAACCCCTTGTACATCCTTTTTTTTTTTTTTTTCCCGTGAGACAGAGTCTCATTCTGTCGCCAGGTTGGAGTGCAGTGGTGCAGTCTCGGCTCACTGCAGCCTCCACCTCCCAGGTTCAAGCAATTCTTCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTGCACACCACCATGCCCAGCTAATTTTTATATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAGGATGGTCTTGATCTCTTGACGTCATGATCCGCCTGTCTCAACCTCCCAAAGTGCTGGGATTACAGGTGTGATCCACCATGCCCAGCCTCAGCCTTCTTGAATAGCAATGATCACTCTGTGTTTTAAGTCACTCTCATTAAACTGAGCTCCTAAAGACAAGGACTGCCCTGTATTTGCTTTTGCACATGGAGCATGCCATTGGCCTTGCCC	G	A3082952C	RIPK1	NM_001354930.2(RIPK1):c.460-133_689-244del	noncoding	Pathogenic
6	3083312	AAGTAAGGCATTACTTACTTTC	A	A3083313C	RIPK1	NM_001354930.2(RIPK1):c.688_688+20del	coding	Pathogenic
6	3089604	TTTTA	T	T3089609A	RIPK1	NM_001354930.2(RIPK1):c.863_866TTTA[1]:p.Phe288_Tyr289insTer	coding	Pathogenic
6	3104262	TG	T	G3104263C	RIPK1	NM_001354930.2(RIPK1):c.954del:p.Met318fs	coding	Pathogenic/Likely_pathogenic
6	4943770	T	TA	G4943788A	CDYL	NM_004824.4(CDYL):c.1332+31dup	noncoding	Benign
6	5109748	T	TC	G5109750C	LYRM4	NM_020408.5(LYRM4):c.208-258dup	noncoding	Benign
6	5260742	G	GA	T5260752A	LYRM4	NM_020408.5(LYRM4):c.-10dup	noncoding	Benign
6	5431059	TA	T	A5431060G	FARS2	NM_006567.5(FARS2):c.792del:p.Asp265fs	coding	Pathogenic/Likely_pathogenic
6	5431079	AC	A	C5431080A	FARS2	NM_006567.5(FARS2):c.812del:p.Thr271fs	coding	Pathogenic
6	5771341	G	GGACTCTGT	C5771350G	FARS2	NM_006567.5(FARS2):c.1269_1276dup:p.Ser426Ter	coding	Pathogenic
6	6167548	GT	G	T6167549G	F13A1	NM_000129.3(F13A1):c.1817del:p.His606fs	coding	Pathogenic
6	6250894	CTCTT	C	T6250902C	F13A1	NM_000129.3:c.603_606delAAGA	coding	Pathogenic
6	6318637	CA	C	A6318640G	F13A1	NM_000129.4(F13A1):c.27del:p.Phe9fs	coding	Pathogenic
6	7555401	G	GTTTA	C7555404T	DSP	NM_004415.4(DSP):c.171-315_171-314insTATT	noncoding	Benign
6	7555788	TGCTTGATGC	T	C7555790A	DSP	NM_004415.4(DSP):c.243_251del:p.Cys81_Arg84delinsTer	coding	Pathogenic
6	7555819	CT	C	T7555820G	DSP	NM_004415.4(DSP):c.273del:p.Glu92fs	coding	Pathogenic/Likely_pathogenic
6	7557829	C	CT	G7557832T	DSP	NM_004415.4(DSP):c.274-285dup	noncoding	Benign
6	7558169	GTGTTT	G	T7558172C	DSP	NM_004415.4(DSP):c.330_334del:p.Phe111fs	coding	Pathogenic
6	7558171	GT	AA	G7558171A	DSP	NM_004415.4(DSP):c.329_330delinsAA:p.Cys110Ter	coding	Pathogenic
6	7559210	G	GC	T7559211C	DSP	NM_004415.4(DSP):c.423-16_423-15insC	noncoding	Benign/Likely_benign
6	7559266	GC	G	C7559268A	DSP	NM_004415.4(DSP):c.465del:p.Ile156fs	coding	Pathogenic
6	7559293	G	GAGCTCGAGTCCCT	C7559294A	DSP	NM_004415.4(DSP):c.490_491insAGCTCGAGTCCCT:p.Ala164fs	coding	Pathogenic
6	7565404	ATCAT	A	T7565408G	DSP	NM_004415.4(DSP):c.827_830del:p.Ile276fs	coding	Pathogenic
6	7565507	A	AG	A7565510G	DSP	NM_004415.4(DSP):c.928dup:p.Glu310fs	coding	Pathogenic
6	7565520	CG	C	G7565521T	DSP	NM_004415.4(DSP):c.939+1del	coding	Pathogenic
6	7566378	T	TA	C7566380A	DSP	NM_004415.4(DSP):c.942dup:p.Arg315fs	coding	Pathogenic
6	7567363	GACACT	CA	G7567363C	DSP	NM_004415.4(DSP):c.1054_1059delinsCA:p.Asp352fs	coding	Pathogenic/Likely_pathogenic
6	7567366	ACT	A	C7567369G	DSP	NM_004415.4(DSP):c.1058_1059CT[1]:p.Leu354fs	coding	Pathogenic
6	7567780	GT	G	T7567786G	DSP	NM_004415.4(DSP):c.1146del:p.Phe382fs	coding	Pathogenic
6	7567801	TA	T	A7567802C	DSP	NM_004415.4(DSP):c.1162del:p.Thr388fs	coding	Pathogenic
6	7567818	AG	A	G7567822C	DSP	NM_004415.4(DSP):c.1182del:p.Leu395fs	coding	Pathogenic
6	7568448	G	GA	T7568453A	DSP	NM_004415.4(DSP):c.1282dup:p.Ile428fs	coding	Pathogenic
6	7568554	AT	A	T7568556C	DSP	NM_004415.4(DSP):c.1386del:p.Leu463fs	coding	Pathogenic
6	7568581	C	CT	A7568582T	DSP	NM_004415.4(DSP):c.1411_1412insT:p.Gln471fs	coding	Pathogenic
6	7571496	G	GCGGAAAATACAGTCTCAGTTCACCGATGCC	A7571528G	DSP	NM_004415.4(DSP):c.1817_1846dup:p.Arg606_Ala615dup	coding	Pathogenic
6	7571562	TG	T	G7571564C	DSP	NM_004415.4(DSP):c.1883del:p.Gly628fs	coding	Pathogenic
6	7574083	CAG	C	A7574086T	DSP	NM_004415.3(DSP):c.2131_2132delAG:p.Ser711Cysfs	noncoding	Pathogenic
6	7574190	AG	A	G7574191T	DSP	NM_004415.4(DSP):c.2236del:p.Val746fs	coding	Pathogenic
6	7574745	ACTGT	A	T7574749C	DSP	NM_004415.4(DSP):c.2390_2393del:p.Val797fs	coding	Pathogenic
6	7575273	CT	C	T7575284C	DSP	NM_004415.4(DSP):c.2437-11del	noncoding	Benign
6	7575355	C	CA	G7575357A	DSP	NM_004415.4(DSP):c.2498dup:p.Lys834fs	coding	Pathogenic
6	7576366	GCT	G	C7576369A	DSP	NM_004415.4(DSP):c.2706_2707del:p.Leu902_Tyr903insTer	coding	Pathogenic
6	7577007	CA	C	A7577013T	DSP	NM_004415.4(DSP):c.2848del:p.Ile950fs	coding	Pathogenic
6	7577007	C	CA	T7577014A	DSP	NM_004415.4(DSP):c.2848dup:p.Ile950fs	coding	Pathogenic/Likely_pathogenic
6	7577029	CCAATT	C	C7577035A	DSP	NM_004415.4(DSP):c.2865_2869CAATT[1]:p.Asn956_Ser957insTer	coding	Pathogenic
6	7577038	TTAAGG	T	A7577041T	DSP	NM_004415.4(DSP):c.2876_2877+3del	coding	Pathogenic
6	7577847	GAC	G	A7577848C	DSP	NM_004415.4(DSP):c.2947_2948del:p.Thr983fs	coding	Pathogenic
6	7578521	A	AGGTT	C7578526G	DSP	NM_004415.4(DSP):c.3044_3047dup:p.Phe1016fs	coding	Pathogenic
6	7579316	AC	T	A7579316T	DSP	NM_004415.4(DSP):c.3126_3127delinsT:p.Arg1042fs	coding	Pathogenic
6	7579346	TAATAAGAACA	T	A7579350T	DSP	NM_004415.4(DSP):c.3160_3169del:p.Lys1054fs	coding	Pathogenic
6	7579479	C	CTA	G7579482T	DSP	NM_004415.4(DSP):c.3290_3291dup:p.Asp1098Ter	coding	Pathogenic
6	7579605	TAT	G	T7579605G	DSP	NM_004415.4(DSP):c.3415_3417delinsG:p.Tyr1139fs	coding	Pathogenic
6	7579608	GA	G	A7579609C	DSP	NM_004415.4(DSP):c.3419del:p.Asp1140fs	coding	Pathogenic
6	7579615	T	TG	C7579617G	DSP	NM_004415.4(DSP):c.3426dup:p.Gln1143fs	coding	Pathogenic
6	7579663	T	TA	G7579665A	DSP	NM_004415.4(DSP):c.3474dup:p.Glu1159fs	coding	Pathogenic
6	7579713	AG	A	G7579716T	DSP	NM_004415.4(DSP):c.3526del:p.Val1176fs	coding	Pathogenic/Likely_pathogenic
6	7579920	AG	A	G7579923A	DSP	NM_004415.4(DSP):c.3733del:p.Glu1245fs	coding	Pathogenic
6	7579922	G	GGAAAATC	G7579932A	DSP	NM_004415.4(DSP):c.3735_3741dup:p.Asp1248fs	coding	Pathogenic
6	7580080	A	AGGTC	A7580085G	DSP	NM_004415.4(DSP):c.3891_3894dup:p.Met1299fs	coding	Pathogenic
6	7580197	AG	A	G7580199A	DSP	NM_004415.4(DSP):c.4009del:p.Glu1337fs	coding	Pathogenic
6	7580224	AAAATG	A	A7580227C	DSP	NM_004415.4(DSP):c.4037_4041del:p.Asn1346fs	coding	Pathogenic/Likely_pathogenic
6	7580425	TGA	G	T7580425G	DSP	NM_004415.4(DSP):c.4235_4237delinsG:p.Leu1412fs	coding	Pathogenic
6	7580494	CCACTG	C	C7580495G	DSP	NM_004415.4(DSP):c.4305_4309del:p.Thr1436fs	coding	Pathogenic/Likely_pathogenic
6	7580542	TGAGAC	T	G7580543A	DSP	NM_004415.4(DSP):c.4353_4357del:p.Arg1452fs	coding	Pathogenic
6	7580609	CA	C	A7580613C	DSP	NM_004415.4(DSP):c.4423del:p.Thr1475fs	coding	Pathogenic
6	7580985	GA	G	A7580987G	DSP	NM_004415.4(DSP):c.4797del:p.Gly1600fs	coding	Pathogenic
6	7581044	GC	G	C7581045T	DSP	NM_004415.4(DSP):c.4855del:p.Leu1619fs	coding	Pathogenic
6	7581065	TAAGAA	T	A7581066G	DSP	NM_004415.4(DSP):c.4876_4880del:p.Lys1626fs	coding	Pathogenic
6	7581072	AGGAG	TTCT	A7581072T	DSP	NM_004415.4(DSP):c.4882_4886delinsTTCT:p.Arg1628fs	coding	Pathogenic/Likely_pathogenic
6	7581163	CTT	C	T7581164C	DSP	NM_004415.4(DSP):c.4974_4975del:p.Ser1658_Ser1659insTer	coding	Pathogenic
6	7581398	AG	A	G7581400A	DSP	NM_004415.4(DSP):c.5210del:p.Gly1737fs	coding	Pathogenic
6	7581510	CAGAG	C	A7581517G	DSP	NM_004415.4(DSP):c.5321_5322AG[3]:p.Glu1776fs	coding	Pathogenic/Likely_pathogenic
6	7582650	T	TA	G7582652A	DSP	NM_004415.4(DSP):c.5389dup:p.Arg1797fs	coding	Pathogenic
6	7582718	TCAAAGTCCTGGAG	T	A7582722G	DSP	NM_004415.4(DSP):c.5460_5472del:p.Val1821fs	coding	Pathogenic
6	7582719	C	CA	G7582723A	DSP	NM_004415.4(DSP):c.5460dup:p.Val1821fs	coding	Pathogenic
6	7582721	AAGTCCTG	A	A7582722G	DSP	NM_004415.4(DSP):c.5460_5466del:p.Val1821fs	coding	Pathogenic
6	7582803	CA	C	A7582804G	DSP	NM_004415.4(DSP):c.5542del:p.Arg1848fs	coding	Pathogenic
6	7582812	ACAGCGCC	GTG	A7582812G	DSP	NM_004415.4(DSP):c.5550_5557delinsGTG:p.Gln1851fs	coding	Pathogenic
6	7582914	AAG	A	G7582918A	DSP	NM_004415.4(DSP):c.5656_5657del:p.Glu1886fs	coding	Pathogenic
6	7582926	TGA	T	G7582935A	DSP	NM_004415.4(DSP):c.5665_5666GA[4]:p.Lys1892fs	coding	Pathogenic
6	7582940	ACAGT	A	A7582942T	DSP	NM_004415.4(DSP):c.5680_5683del:p.Ser1894fs	coding	Pathogenic/Likely_pathogenic
6	7583006	G	GT	A7583008T	DSP	NM_004415.4(DSP):c.5745dup:p.Lys1916Ter	coding	Pathogenic
6	7583031	GAC	G	C7583035G	DSP	NM_004415.4(DSP):c.5771_5772CA[1]:p.Gln1925fs	coding	Pathogenic
6	7583116	GA	G	A7583117G	DSP	NM_004415.4(DSP):c.5855del:p.Glu1952fs	coding	Pathogenic
6	7583247	GA	G	A7583249G	DSP	NM_004415.4(DSP):c.5987del:p.Lys1996fs	coding	Pathogenic
6	7583351	CTT	C	T7583353G	DSP	NM_004415.4(DSP):c.6091_6092del:p.Leu2031fs	coding	Pathogenic
6	7583523	TG	T	G7583524C	DSP	NM_004415.4(DSP):c.6262del:p.Ala2088fs	coding	Pathogenic
6	7583655	A	AG	T7583661G	DSP	NM_004415.4(DSP):c.6398dup:p.Val2134fs	coding	Pathogenic
6	7583727	T	TA	G7583729A	DSP	NM_004415.4(DSP):c.6466dup:p.Arg2156fs	coding	Pathogenic
6	7583763	TAGTC	T	T7583766A	DSP	NM_004415.4(DSP):c.6504_6507del:p.Ser2168fs	coding	Pathogenic
6	7583772	A	ACT	A7583773C	DSP	NM_004415.4(DSP):c.6510_6511insCT:p.Asn2171fs	coding	Pathogenic
6	7583842	CCA	C	C7583845T	DSP	NM_004415.4(DSP):c.6581_6582CA[1]:p.His2195fs	coding	Pathogenic
6	7584026	AG	A	G7584029T	DSP	NM_004415.4(DSP):c.6767del:p.Gly2256fs	coding	Pathogenic
6	7584211	AAG	A	A7584216G	DSP	NM_004415.4(DSP):c.6950_6951AG[2]:p.Gly2319fs	coding	Pathogenic/Likely_pathogenic
6	7584336	CA	C	A7584337T	DSP	NM_004415.4(DSP):c.7075del:p.Ile2359fs	coding	Pathogenic
6	7584504	AT	A	T7584510G	DSP	NM_004415.4(DSP):c.7248del:p.Phe2416fs	coding	Pathogenic
6	7584730	TA	T	A7584731T	DSP	NM_004415.4(DSP):c.7469del:p.Tyr2490fs	coding	Pathogenic/Likely_pathogenic
6	7584820	GTAGA	G	T7584825A	DSP	NM_004415.4(DSP):c.7559_7562TAGA[1]:p.Asp2521fs	coding	Pathogenic
6	7584825	TAGAA	T	A7584829C	DSP	NM_004415.4(DSP):c.7567_7570del:p.Lys2523fs	coding	Pathogenic
6	7584883	AG	A	G7584885A	DSP	NM_004415.4(DSP):c.7623del:p.Lys2542fs	coding	Pathogenic
6	7585039	AT	A	T7585042C	DSP	NM_004415.4(DSP):c.7780del:p.Ser2594fs	coding	Pathogenic
6	7585132	GAC	G	C7585136G	DSP	NM_004415.4(DSP):c.7872_7873CA[1]:p.Thr2625fs	coding	Pathogenic
6	7585134	C	CA	C7585136A	DSP	NM_004415.4(DSP):c.7873dup:p.Thr2625fs	coding	Pathogenic
6	7585159	A	AT	A7585162T	DSP	NM_004415.4(DSP):c.7899dup:p.Thr2634fs	coding	Pathogenic
6	7585336	CAGAA	C	A7585339C	DSP	NM_004415.4(DSP):c.8077_8080del:p.Lys2693fs	coding	Pathogenic
6	7585371	AAAG	A	A7585379T	DSP	NM_004415.4(DSP):c.8111_8113AGA[2]:p.Lys2706del	coding	Benign/Likely_benign
6	7585415	TC	T	C7585418G	DSP	NM_004415.4(DSP):c.8156del:p.Pro2719fs	coding	Pathogenic
6	7585434	GC	G	C7585435G	DSP	NM_004415.4(DSP):c.8173del:p.Arg2725fs	coding	Pathogenic
6	8026405	CT	C	T8026406G	BLOC1S5	NM_201280.3(BLOC1S5):c.345del:p.Val116fs	coding	Pathogenic
6	10398692	CTT	C	T10398694G	TFAP2A	NM_001032280.3(TFAP2A):c.1019_1020del:p.Lys340fs	coding	Pathogenic
6	10556482	TC	T	C10556483G	GCNT2	NM_145649.4(GCNT2):c.925+26647del	coding	Pathogenic
6	10557133	A	AT	A10557134T	GCNT2	NM_001491.2(GCNT2):c.710_711insT:p.Lys237fs	coding	Pathogenic
6	10773073	AT	A	T10773074G	MAK	NM_001242957.3(MAK):c.1632del:p.Cys545fs	coding	Pathogenic
6	10791706	TA	T	A10791711C	MAK	NM_001242957.3(MAK):c.1284del:p.Phe428fs	coding	Pathogenic
6	10791794	AGT	A	G10791795C	MAK	NM_001242957.3(MAK):c.1195_1196del:p.Thr399fs	coding	Pathogenic
6	10796052	ACT	A	C10796055G	MAK	NM_001242957.3(MAK):c.1087_1088del:p.Gln364fs	coding	Pathogenic
6	10802003	CTG	C	T10802004G	MAK	NM_001242957.3(MAK):c.718_719del:p.Gln240fs	coding	Pathogenic/Likely_pathogenic
6	10808908	C	AAGGT	C10808908A	MAK	NM_001242957.3(MAK):c.393delinsACCTT:p.Leu132fs	coding	Pathogenic
6	10817956	TAA	T	A10817957G	MAK	NM_001242957.3(MAK):c.170_171del:p.Leu57fs	coding	Pathogenic
6	10874622	GA	G	A10874623T	GCM2	NM_004752.4(GCM2):c.893del:p.Ile298fs	coding	Pathogenic
6	10876442	T	TA	C10876444A	GCM2	NM_004752.4(GCM2):c.456+2dup	noncoding	Pathogenic
6	13306445	C	CT	A13306450T	TBC1D7	NM_016495.6(TBC1D7):c.747dup:p.Val250fs	coding	Pathogenic
6	13307726	TA	T	A13307727T	TBC1D7	NM_016495.6(TBC1D7):c.538del:p.Tyr180fs	coding	Pathogenic
6	13326877	TTCTC	T	C13326879G	TBC1D7	NM_016495.6(TBC1D7):c.18_21del:p.Arg7fs	coding	Pathogenic
6	16295116	A	AACTC	A16295122C	GMPR	NM_006877.4(GMPR):c.970_973dup:p.Lys325fs	coding	Benign
6	16327633	G	GTGCTGC	A16327678C	ATXN1	NM_000332.3(ATXN1):c.636_638GCA[16]:p.Gln224_Gln225dup	coding	Benign
6	16327672	C	CTGA	C16327675A	ATXN1	NM_000332.3(ATXN1):c.638_639insTCA:p.Gln213_Gln214insHis	coding	Benign
6	16327684	A	ATGC	C16327725G	ATXN1	NM_001357857.2(ATXN1):c.*1_*3GCA[14]:p.Ter186=	coding	Benign/Likely_benign
6	16327684	A	ATGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGC	C16327725G	ATXN1	NM_000332.3(ATXN1):c.589_591CAG(36_38):p.Gln208_His209insGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGln	coding	Pathogenic
6	18121614	TC	T	C18121617T	NHLRC1	NM_198586.3(NHLRC1):c.992del:p.Gly331fs	coding	Pathogenic
6	18121994	CA	C	A18122001T	NHLRC1	NM_198586.3(NHLRC1):c.612del:p.Phe204fs	coding	Pathogenic
6	18122137	CCT	C	C18122138G	NHLRC1	NM_198586.3(NHLRC1):c.468_469del:p.Gly158fs	coding	Pathogenic
6	18122138	CT	C	T18122139G	NHLRC1	NM_198586.3(NHLRC1):c.468del:p.Gly158fs	coding	Pathogenic
6	18122144	C	CA	T18122150A	NHLRC1	NM_198586.3(NHLRC1):c.462dup:p.Asp155Ter	coding	Pathogenic
6	18122380	CG	C	G18122382C	NHLRC1	NM_198586.3(NHLRC1):c.226del:p.Arg76fs	coding	Pathogenic
6	21595688	ACTC	A	C21595695T	SOX4	NM_003107.3(SOX4):c.1155_1157CTC[2]:p.Ser392del	coding	Benign
6	24205054	G	GC	G24205061C	DCDC2	NM_016356.5(DCDC2):c.970dup:p.Ala324fs	coding	Pathogenic
6	24301714	CCTGTGAACAGCCCCGCTCCTCAGAGTGATTTTTTCTGTGACCATTTGTAGTACATGATCCCACTGATTCAAGGTTTTTCTGGGGATAAGGAGGCGAGAAGCTGGGTTTATGAGGTCTCCATTTGCAATCAAG	C	T24301718G	DCDC2	NM_016356.4(DCDC2):c.426_557del:p.Phe142_Arg186delinsLeu	coding	Pathogenic
6	24301742	A	AT	C24301749T	DCDC2	NM_016356.5(DCDC2):c.529dup:p.Ile177fs	coding	Pathogenic
6	24353632	AAAAC	A	A24353643T	DCDC2	NM_016356.5(DCDC2):c.294-21GTTT[2]	noncoding	Benign
6	24357457	C	CT	G24357460T	DCDC2	NM_016356.5(DCDC2):c.293dup:p.Asn98fs	coding	Pathogenic
6	24357626	GAC	G	A24357629C	DCDC2	NM_016356.5(DCDC2):c.121_122GT[1]:p.Ser42fs	coding	Pathogenic
6	24429112	CT	C	T24429114G	GPLD1	NM_001503.4(GPLD1):c.2442del:p.Val815fs	coding	Benign
6	24495099	TCCGGGCCTGCGCCCGGCCCGGCCC	T	C24495100A	ALDH5A1	NM_001080.3(ALDH5A1):c.104_127del:p.Ser35_Gln43delinsTer	coding	Pathogenic
6	24495109	C	CGCCCG	A24495124G	ALDH5A1	NM_001080.3(ALDH5A1):c.123_127dup:p.Gln43fs	coding	Pathogenic
6	24495303	C	CA	G24495304A	ALDH5A1	NM_001080.3(ALDH5A1):c.307_308insA:p.Arg103fs	coding	Pathogenic
6	24503385	G	GGCCCTTT	G24503391T	ALDH5A1	NM_001080.3(ALDH5A1):c.566_567insTTGCCCT:p.Val190fs	coding	Pathogenic
6	24504876	TC	T	C24504880A	ALDH5A1	NM_001080.3(ALDH5A1):c.621del:p.Ser208fs	coding	Pathogenic
6	24515258	CT	C	T24515259G	ALDH5A1	NM_001080.3(ALDH5A1):c.819del:p.Asp274fs	coding	Pathogenic
6	24520603	ATG	A	T24520616A	ALDH5A1	NM_001080.3(ALDH5A1):c.1014+60TG[6]	noncoding	Benign
6	24521263	CCTTCACAGTTATCAGCTCTACAAACGTTGCATTTTAGAGATGAGGAAATGAAACTCTAGAAAGAAAAAGTGACTTAGAGATCAGACGTCTTTGGGCCACAGTGTCAAATCTGCTGAGGAGCTGGGACTCTGAGCCAAGGCTCCTGTCTTCCAGTTCTATCCAAGCTGCTGCCAGGGTCCTGCCTTCTTAAATATTCTTAAGCATTCATCTTAAAAGTACCATCAATATGTAATTTTAAATGCATTCTAGAAACAGAGTAAATATCCCTGAAAGGTTATATTGTGAAAAAACTGAAATGTGTGATATTCTCTATCAAATAATTTTCATCCTTGCCTTGGCCTTTGGTAATTAAGTTTTTCCCTTCCACATAACCTAAATAAGCTTGGTTTTGTCTGAAATAAGTATATTTTCCTTCATAAATACAAAATGTCAATATATGTTACCATCAATTACACTGTAAGGCTACAACTTGGGGACAGGTATGGTGGCTCAGAACTGTAATCCCAGCATTTTGGGAGGCCAAAGCAGGAGGATCACTTGAGCCCAGGAGTTGGAGACCAGCCTGGGCAACAGAGTGAGACTCTGTCTCTACAATTTTTTTTTTTTTTTTTTTTTTTTTGTGTGACAGAGTCTCACTCTGTTGCCCAGGCTGAAGTGTAGTGGCATGATGTCAGCTCACTGCAACCTCCACCTCCCGGATTCAAGAGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGCTAATTTTTCTATTTTTAGTAGAGATGGGTTTCACTATGTTGGCCAGGCTAGTCTCGAACTCCTGACCTTAGGTGATCCACCCACCTCAGCCTCCCAAAGTGCTGGGGTTACAGGCATGAGCCACTGCGCCCAGCCAAAAAAAATTAAAAATTAGCTGGGCATGGTGGCAAGTGCCTATAGTCCCACCTACTTGGGAGGCTGAGGTGGAAGAATCACTTGAGCCCTGGAGGTCAAGGCTGCAGTGAACTCATCACTACTGCACTCCAGCCTGGGCGACAGAGCGAGACCCTGTGTCAGCAAAACAAAAGACTATAAGTTGGTGTTGGACCACATTCCTCTTAGCCTCTGCTGTTGCTGCAGCATCACAGTCTCCTAGGAGAATTGCACTCTTTCCCCACCCCCCAGGGAAACAAAATAAAAGCCATTTGAAAAAAACATGGATTGGGTGGCTTTTTTTTCTTTTCTTTCGTGTGTGTGTGTGTGTGTGTGTGTGTACAGGTGCTTATTGCCAACTAATCACTGATGCATAGCAGCTGTGTAGCATAGCAGCTGTGGAGGGAACTGGAGGGGAACATGCACTGACTCAGTGCTTTTATCTTTGGGGCCAAGCCCACGTGAGGAGGAAAATGGCAGTTTGAGCACATGACAACCACCGAGGGAAGTGTTTTCACAGAGAGGCGGTAGCAGCCACACGTTCACTGGTCAGGTCTGCAGCTTCTGACAGACTGTGTGGGTTTGTTTTTGTCTCCTGTCCAGACTTGTGTTTGCTCAAACCAATTCTTGGTGCAAAGGGGCATCCATGATGCCTTTGTAAAAGCATTCGCCGAGGCCATGAAGAAGAACCTGCGCGTAGGTAATGGATTTGAGGAAGGAACTACTCAGGGCCCATTAATTAATGAAAAAGCGGTAGAAAAGGTAAGTATATTGTATTATTTGTGAAAGTAAATTTCATGGTTTCAATATGAAAAGCTTAATCAGCAAAAAACACTTTGGCTGGAGGGGTGGGGATAGAGAGGGGTGGGTTGACAGAATATTACAGCTAGACAGAAGGAATAAGCTCTGGTGTTCTACAGCACTGTAGAATGACTGTAATTAGCAACAATGTATTGTATATTTTCAAATAGCTATTATTAGAAGAGTAGATTTTGAACGTTCCCAGTATAAAGAAATGATCAATGTTTGAGGCGATAGATGTGCTAACTATCCTGATTAGAGTATAGAGTATGAGAGATCTACATCTATACATGGAATCGAATGGAATTTTCAATGATGTTTTCATACAAAAACCACAAAGGTTAAAATAAGTAAAAAATTAATAATAGCTAAAAAAAATGATGTTAAAAGGCAAAAAAAAAAAATGAAAACAAAAAAGTCATTTTGGTAAAGTGCCCAGCAAGCCTATTTTGTAAACAATGGAGAAACCTGAGAAAAGTGAATTCTGCCTACCAGTTATATGAATCGGGTTGTTGTCTGGTCATGAGCTGCTATAGCCCTGCCATTGCACCAAGTCCCCATGCGGTCTGTCACTGTAGCTCTTTACTGTCCTCCCTAAATTTTGTTATAGTGATGATAATTCTATCCCTCACTGCCTCAGCAATTAGGATCTTGAGACAAAGTTCATTCATCTTTTGGAACACCTATGGAATGGAAGACTGGCTTGGTTTTGAGATGGTTTGCGTTTCGGCTGTAATGCTGATGTTGTCCTGTT	C	C24521267T	ALDH5A1	NM_001080.3(ALDH5A1):c.1014+723_1173+796del	noncoding	Pathogenic
6	24528143	C	CG	C24528147G	ALDH5A1	NM_001080.3(ALDH5A1):c.1323dup:p.Pro442fs	coding	Pathogenic/Likely_pathogenic
6	24528167	GTA	TT	G24528167T	ALDH5A1	NM_001080.3(ALDH5A1):c.1343+1_1343+3delinsTT	noncoding	Pathogenic
6	24533601	T	TGTGGAGTGCCCTTTTG	A24533626C	ALDH5A1	NM_001080.3(ALDH5A1):c.1506_1521dup:p.Lys508fs	coding	Pathogenic
6	24654405	TACTC	T	T24654408A	TDP2	NM_016614.3(TDP2):c.636+3_636+6del	noncoding	Pathogenic
6	24658572	GG	TT	G24658572T	TDP2	NM_016614.3(TDP2):c.413_414delinsAA:p.Ser138Ter	coding	Pathogenic
6	24777278	AAATC	A	T24777281A	GMNN	NM_015895.5(GMNN):c.35_38del:p.Ile12fs	coding	Pathogenic
6	25653380	AG	A	G25653381A	SCGN	NM_006998.4(SCGN):c.83-1del	noncoding	Benign
6	26091518	ACC	A	C26091519T	HFE	NM_139003.3(HFE):c.340+415_340+416del	coding	Pathogenic
6	26092827	TA	T	A26092830G	HFE	NM_139011.3(HFE):c.77-289del	coding	Pathogenic
6	26156780	G	GC	A26156783C	H1-4	NM_005321.3(H1-4):c.392dup:p.Ala132fs	coding	Pathogenic
6	26156797	A	AG	A26156799G	H1-4	NM_005321.3(H1-4):c.408dup:p.Lys137fs	coding	Pathogenic/Likely_pathogenic
6	26156801	G	GC	A26156805C	H1-4	NM_005321.3(H1-4):c.414dup:p.Lys139fs	coding	Pathogenic/Likely_pathogenic
6	26156815	C	AG	C26156815A	H1-4	NM_005321.3(H1-4):c.425delinsAG:p.Thr142fs	coding	Pathogenic
6	26156815	C	CG	C26156821G	H1-4	NM_005321.2(H1-4):c.430dup:p.Ala144fs	coding	Pathogenic/Likely_pathogenic
6	26156815	CGG	C	G26156819C	H1-4	NM_005321.3(H1-4):c.429_430del:p.Ala144fs	coding	Pathogenic
6	26156815	CGGGGGC	AGGGGGTT	C26156815A	H1-4	NM_005321.2(H1-4):c.425_431delinsAGGGGGTT:p.Thr142fs	coding	Pathogenic
6	26156820	G	CC	G26156820C	H1-4	NM_005321.3(H1-4):c.430delinsCC:p.Ala144fs	coding	Pathogenic
6	26156821	C	CG	C26156824G	H1-4	NM_005321.2(H1-4):c.433dup:p.Ala145fs	coding	Pathogenic
6	26156823	G	GC	A26156826C	H1-4	NM_005321.3(H1-4):c.435dup:p.Thr146fs	coding	Pathogenic
6	26156825	CACCCCCAAGAAGAGCGCCAAGAA	C	A26156826G	H1-4	NM_005321.2(H1-4):c.436_458del:p.Thr146fs	coding	Pathogenic
6	26156826	A	AC	A26156832C	H1-4	NM_005321.2(H1-4):c.441dup:p.Lys148fs	coding	Pathogenic
6	26156827	CCCCCAAGAAGAGCGCCAAGAAGA	C	G26156834A	H1-4	NM_005321.3(H1-4):c.444_466del:p.Lys149fs	coding	Pathogenic
6	26156836	A	AG	A26156838G	H1-4	NM_005321.3(H1-4):c.447dup:p.Ser150fs	coding	Pathogenic
6	26156844	A	AT	A26156845T	H1-4	NM_005321.2(H1-4):c.454_455insT:p.Lys152fs	coding	Pathogenic
6	26156850	A	AC	A26156855C	H1-4	NM_005321.3(H1-4):c.464dup:p.Lys157fs	coding	Pathogenic
6	27255285	AAAGGAGAGCCAGATT	A	A27255290G	PRSS16	NM_005865.4(PRSS16):c.1520_1534del:p.Glu507_Lys511del	coding	Benign
6	28326431	CCT	C	C28326432G	ZSCAN31	NM_030899.4(ZSCAN31):c.954_955del:p.Glu320fs	coding	Benign
6	29657307	G	GT	C29657316T	MOG	NM_206809.4(MOG):c.88+18dup	noncoding	Benign
6	29672727	AG	A	G29672728C	ZFP57	NM_001109809.4(ZFP57):c.1383del:p.Tyr462fs	coding	Pathogenic
6	29673205	AGCCTGGGT	A	G29673212A	ZFP57	NM_001109809.4(ZFP57):c.898_905del:p.Gly299_Thr300insTer	coding	Pathogenic
6	29675419	ACT	A	T29675425C	ZFP57	NM_001109809.4(ZFP57):c.313_314AG[2]:p.Glu106fs	coding	Pathogenic
6	30920003	C	CTGGGGCGGTGCAGGTGA	A30920023G	VARS2	NM_020442.5(VARS2):c.1166-83_1166-67dup	noncoding	Benign
6	30986839	GC	G	C30986840T	MUC21	NM_001010909.5(MUC21):c.665del:p.Ala222fs	coding	Benign
6	31116868	AC	A	C31116873T	CDSN	NM_001264.5(CDSN):c.746del:p.Gly249fs	coding	Pathogenic
6	31117447	G	GAGGC	G31117455C	CDSN	NM_001264.5(CDSN):c.164_167dup:p.Thr57fs	coding	Pathogenic
6	31412380	TGCTG	T	G31412385C	MICA	NM_001177519.3(MICA):c.949_952GCTG[1]:p.Gly318fs	coding	Benign
6	31412384	G	GCT	G31412385C	MICA	NM_001177519.3(MICA):c.947_948dup:p.Ala317fs	coding	Benign
6	31412384	G	GCTGCTGCTGCT	G31412385C	MICA	NM_001177519.3(MICA):c.948_949insCTGCTGCTGCT:p.Ala317fs	coding	Benign
6	31666856	TG	T	G31666858A	CSNK2B	NM_001320.6(CSNK2B):c.27del:p.Ser8_Trp9insTer	coding	Pathogenic
6	31667899	A	AT	C31667901T	CSNK2B	NM_001320.6(CSNK2B):c.105dup:p.Leu36fs	coding	Pathogenic
6	31667901	C	CT	A31667904T	CSNK2B	NM_001320.6(CSNK2B):c.108dup:p.Thr37fs	coding	Pathogenic
6	31668626	TC	T	C31668628T	CSNK2B	NM_001320.7(CSNK2B):c.265del:p.Thr90fs	coding	Pathogenic
6	31669484	G	GGT	A31669485G	CSNK2B	NM_001320.7(CSNK2B):c.533_534insGT:p.Pro179fs	coding	Pathogenic
6	31669898	T	TC	A31669900C	CSNK2B	NM_001320.7(CSNK2B):c.621dup:p.Lys208fs	coding	Pathogenic
6	31723654	GC	G	C31723657T	MPIG6B	NM_138272.2(MPIG6B):c.80del:p.Pro27fs	coding	Pathogenic
6	31792897	TG	T	G31792899A	VARS1	NM_006295.3(VARS1):c.523-3del	noncoding	Benign
6	31794985	A	AGCTGGGCCACAGCC	T31795001C	VARS1	NM_006295.3(VARS1):c.219_232dup:p.Leu78fs	coding	Pathogenic
6	31860611	TC	T	C31860614G	NEU1	NM_000434.4(NEU1):c.625del:p.Glu209fs	coding	Pathogenic
6	31862661	GAC	G	C31862663G	NEU1	NM_000434.4(NEU1):c.114_115del:p.Leu40fs	coding	Pathogenic
6	31934288	ATGGTGGACAGGGTCAGGAATCAGGAGTC	A	G31934291C	C2	NM_000063.6(C2):c.841_849+19del	coding	Pathogenic/Likely_pathogenic
6	31951179	CTGTT	C	T31951183G	CFB	NM_001710.5(CFB):c.1894_1897del	coding	Pathogenic
6	31954568	CTCTCGG	C	G31954580A	NELFE	NM_002904.6(NELFE):c.717_722CCGAGA[1]:p.237_238DR[2]	coding	Benign
6	31954663	TGTCTCGATCCCG	T	G31954676C	NELFE	NM_002904.6(NELFE):c.610_621CGGGATCGAGAC[1]:p.205_206DR[3]	coding	Benign
6	31963721	G	GA	G31963722A	SKIV2L	NM_006929.5(SKIV2L):c.1635_1636insA:p.Gly546fs	coding	Pathogenic
6	31963962	AG	A	G31963963T	SKIV2L	NM_006929.5(SKIV2L):c.1698del:p.Gln566fs	coding	Pathogenic
6	31967365	AG	A	G31967366T	SKIV2L	NM_006929.5(SKIV2L):c.2572del:p.Gly857_Val858insTer	coding	Pathogenic
6	31967792	CAG	C	A31967793G	SKIV2L	NM_006929.5(SKIV2L):c.2662_2663del:p.Arg888fs	coding	Pathogenic
6	31969532	AGGGCTCTCAGGGACCCCTGAG	A	G31969535C	SKIV2L	NM_006929.5(SKIV2L):c.3561_3581del:p.Ser1189_Leu1195del	coding	Pathogenic
6	32038437	C	CCTG	C32038454T	CYP21A2	NM_000500.9(CYP21A2):c.17_19TGC[6]:p.Leu10dup	coding	Benign
6	32038437	CCTG	C	T32038451C	CYP21A2	NM_000500.9(CYP21A2):c.17_19TGC[4]:p.Leu10del	coding	Benign
6	32038505	T	TC	A32038508C	CYP21A2	NM_000500.9(CYP21A2):c.85dup:p.His29fs	coding	Pathogenic
6	32039132	GGAGACTAC	G	G32039133T	CYP21A2	NM_000500.7(CYP21A2):c.332_339delGAGACTAC:p.Gly111Valfs	coding	Pathogenic
6	32039807	TCGTGGAGAT	ACGAGGAGAA	T32039807A	CYP21A2	NM_000500.9(CYP21A2):c.710_719delinsACGAGGAGAA:p.Ile237_Met240delinsAsnGluGluLys	coding	Pathogenic
6	32040182	G	GT	G32040190T	CYP21A2	NM_000500.9(CYP21A2):c.923dup:p.Leu308fs	coding	Pathogenic
6	32041097	GG	C	G32041097C	CYP21A2	NM_000500.9(CYP21A2):c.1451_1452delinsC:p.Arg484fs	coding	Pathogenic
6	32049596	GAGA	G	A32049599G	TNXB	NM_001365276.2(TNXB):c.9440-12_9440-10del	noncoding	Benign
6	32084566	CTT	C	T32084568G	TNXB	NM_001365276.2(TNXB):c.3290_3291del:p.Lys1097fs	coding	Pathogenic
6	32095735	T	TAC	T32095748A	TNXB	NM_001365276.2(TNXB):c.2106_2107GT[7]:p.Val706_Glu707insTer	coding	Pathogenic
6	32095974	CG	C	G32095975T	TNXB	NM_001365276.2(TNXB):c.1878del:p.His626fs	coding	Pathogenic
6	32223881	TAGCAGCAGCAGC	T	C32223902T	NOTCH4	NM_004557.4(NOTCH4):c.18_20GCT[6]:p.Leu13_Leu16del	coding	Benign
6	32223881	TAGC	T	C32223911T	NOTCH4	NM_004557.4(NOTCH4):c.18_20GCT[9]:p.Leu16del	coding	Benign
6	32822322	G	GA	C32822333A	TAP2	NM_018833.2(TAP2):c.1933-14dup	noncoding	Benign
6	32830680	CC	TT	C32830680T	TAP2	NM_018833.2(TAP2):c.1398_1399delinsAA:p.Val467Ile	coding	Benign
6	32832466	AA	GT	A32832466G	TAP2	NM_000544.3(TAP2):c.1144-6_1144-5delinsAC	noncoding	Benign
6	32832811	TC	T	C32832814G	TAP2	NM_000544.3(TAP2):c.958del:p.Glu320fs	coding	Pathogenic
6	32841661	G	GTTCC	C32841666T	PSMB8	NM_148919.4(PSMB8):c.608_611dup:p.Asn204fs	coding	Pathogenic
6	32853681	CC	AT	C32853681A	TAP1	NM_000593.6(TAP1):c.-46_-45delinsAT	coding	Pathogenic
6	32977906	AGAG	A	G32977915A	BRD2	NM_005104.4(BRD2):c.1482_1484GGA[2]:p.Glu497del	coding	Benign
6	32978110	GT	G	T32978118C	BRD2	NM_005104.4(BRD2):c.1579-8del	noncoding	Benign
6	33167850	AC	A	C33167853T	COL11A2	NM_080680.2(COL11A2):c.3962delG:p.Gly1321Valfs	coding	Pathogenic
6	33170969	CA	C	A33170970G	COL11A2	NM_080680.3(COL11A2):c.3367-53del	noncoding	Benign
6	33171183	GAGTC	G	T33171186A	COL11A2	NM_080680.3(COL11A2):c.3313-20_3313-17del	noncoding	Benign
6	33172386	GA	G	A33172389G	COL11A2	NM_080680.3(COL11A2):c.2899-9del	noncoding	Benign/Likely_benign
6	33172579	GGCCCCGGGGGGCCTGGGTGACCTCTCT	G	G33172580C	COL11A2	NM_080680.3(COL11A2):c.2822_2848del:p.Glu941_Pro950delinsAla	coding	Pathogenic
6	33174151	AC	A	C33174157A	COL11A2	NM_080680.3(COL11A2):c.2484+13del	noncoding	Benign
6	33174235	AG	A	G33174241A	COL11A2	NM_080680.3(COL11A2):c.2431-18del	noncoding	Benign
6	33176745	ACCTT	A	T33176752C	COL11A2	NM_080680.3(COL11A2):c.2083_2086AAGG[1]:p.Glu696fs	coding	Pathogenic
6	33176751	CTTCC	T	C33176751T	COL11A2	NM_080680.3(COL11A2):c.2081_2085delinsA:p.Gly694fs	coding	Pathogenic
6	33178734	TAGG	T	G33178742A	COL11A2	NM_080680.3(COL11A2):c.1666-11CCT[2]	noncoding	Benign/Likely_benign
6	33180324	AG	A	G33180330C	COL11A2	NM_080680.3(COL11A2):c.1292del:p.Pro431fs	coding	Pathogenic
6	33189081	GG	C	G33189081C	COL11A2	NM_080680.3(COL11A2):c.339_340delinsG:p.Leu114fs	coding	Pathogenic
6	33192173	G	GC	G33192176C	COL11A2	NM_080680.3(COL11A2):c.67dup:p.Ala23fs	coding	Pathogenic
6	33194833	G	GGGTGGA	G33194845A	RXRB	NM_021976.5(RXRB):c.1455-10_1455-5dup	noncoding	Benign
6	33409703	A	ATC	G33409707C	KIFC1	NM_002263.4(KIFC1):c.*15_*16dup	noncoding	Benign
6	33420306	CG	C	G33420307C	SYNGAP1	NM_006772.3(SYNGAP1):c.43del:p.Ala15fs	coding	Pathogenic
6	33425802	AC	A	C33425807T	SYNGAP1	NM_006772.3(SYNGAP1):c.199del:p.Leu67fs	coding	Pathogenic
6	33432197	CA	C	A33432198G	SYNGAP1	NM_006772.3(SYNGAP1):c.333del:p.Lys114fs	coding	Pathogenic
6	33432218	T	TG	A33432221G	SYNGAP1	NM_006772.3(SYNGAP1):c.355dup:p.Glu119fs	coding	Pathogenic
6	33432221	AGGGTGCCCCTGCTGCGCCCTTCC	A	G33432224C	SYNGAP1	NM_006772.3(SYNGAP1):c.359_381del:p.Gly120fs	coding	Pathogenic
6	33432246	G	GC	T33432250C	SYNGAP1	NM_006772.3(SYNGAP1):c.384dup:p.Ser129fs	coding	Pathogenic
6	33432706	CT	C	T33432707A	SYNGAP1	NM_006772.3(SYNGAP1):c.410del:p.Leu137fs	coding	Pathogenic
6	33432729	G	GAAGTCACAACCCA	C33432745G	SYNGAP1	NM_006772.3(SYNGAP1):c.435_447dup:p.Leu150fs	coding	Pathogenic
6	33435180	T	TC	A33435182C	SYNGAP1	NM_006772.3(SYNGAP1):c.539dup:p.His181fs	coding	Pathogenic
6	33435269	G	GCACA	G33435274C	SYNGAP1	NM_006772.3(SYNGAP1):c.628_629CA[4]:p.Ser211fs	coding	Pathogenic
6	33435547	C	CTG	C33435551G	SYNGAP1	NM_006772.3(SYNGAP1):c.698_699dup:p.Arg234fs	coding	Pathogenic
6	33435565	AAG	A	G33435569C	SYNGAP1	NM_006772.3(SYNGAP1):c.716_717GA[1]:p.Asp240fs	coding	Pathogenic
6	33435593	CG	C	G33435596C	SYNGAP1	NM_006772.3(SYNGAP1):c.745del:p.Ala249fs	coding	Pathogenic
6	33435610	C	CA	G33435613A	SYNGAP1	NM_006772.3(SYNGAP1):c.761dup:p.Asp255fs	coding	Pathogenic
6	33437684	TAGAC	T	G33437686A	SYNGAP1	NM_006772.3(SYNGAP1):c.781_784del:p.Asp261fs	coding	Pathogenic
6	33437692	GTGCTAAAGC	G	C33437695T	SYNGAP1	NM_006772.3(SYNGAP1):c.790_798del:p.Leu264_Leu266del	coding	Pathogenic
6	33437760	C	CCTGGATGA	A33437770T	SYNGAP1	NM_006772.3(SYNGAP1):c.857_864dup:p.Met289fs	coding	Pathogenic
6	33437782	CG	C	G33437783C	SYNGAP1	NM_006772.3(SYNGAP1):c.878del:p.Arg293fs	coding	Pathogenic
6	33437800	CG	C	G33437801C	SYNGAP1	NM_006772.3(SYNGAP1):c.896del:p.Arg299fs	coding	Pathogenic
6	33437827	TG	T	G33437831C	SYNGAP1	NM_006772.3(SYNGAP1):c.926del:p.Gly309fs	coding	Pathogenic
6	33437852	AC	A	C33437854T	SYNGAP1	NM_006772.3(SYNGAP1):c.949del:p.Leu317fs	coding	Pathogenic
6	33437901	CA	C	A33437906G	SYNGAP1	NM_006772.3(SYNGAP1):c.1001del:p.Lys334fs	coding	Pathogenic
6	33437956	GC	G	C33437958A	SYNGAP1	NM_006772.3(SYNGAP1):c.1053del:p.Thr352fs	coding	Pathogenic
6	33437998	GT	G	T33437999A	SYNGAP1	NM_006772.3(SYNGAP1):c.1094del:p.Val365fs	coding	Pathogenic
6	33438027	TG	T	G33438032C	SYNGAP1	NM_006772.3(SYNGAP1):c.1127del:p.Gly376fs	coding	Pathogenic
6	33438071	CAG	C	A33438072G	SYNGAP1	NM_006772.3(SYNGAP1):c.1167_1168del:p.Gly391fs	coding	Pathogenic
6	33438138	C	CT	G33438141T	SYNGAP1	NM_006772.3(SYNGAP1):c.1235dup:p.Leu412fs	coding	Pathogenic
6	33438156	TAA	T	A33438158G	SYNGAP1	NM_006772.3(SYNGAP1):c.1253_1254del:p.Lys418fs	coding	Pathogenic
6	33438176	TCA	T	A33438178C	SYNGAP1	NM_006772.3(SYNGAP1):c.1273_1274del:p.Thr425fs	coding	Pathogenic
6	33438200	G	GT	G33438202T	SYNGAP1	NM_006772.3(SYNGAP1):c.1296dup:p.Ala433fs	coding	Pathogenic
6	33438249	C	CA	G33438251A	SYNGAP1	NM_006772.3(SYNGAP1):c.1345dup:p.Ser449fs	coding	Pathogenic
6	33438423	TC	T	C33438425T	SYNGAP1	NM_006772.3(SYNGAP1):c.1393del:p.Leu465fs	coding	Pathogenic
6	33438483	TC	T	C33438485G	SYNGAP1	NM_006772.3(SYNGAP1):c.1453del:p.Arg485fs	coding	Pathogenic
6	33438520	GTA	G	A33438524G	SYNGAP1	NM_006772.3(SYNGAP1):c.1490_1491AT[1]:p.Met498fs	coding	Pathogenic
6	33438526	GA	G	A33438527G	SYNGAP1	NM_006772.3(SYNGAP1):c.1495del:p.Arg499fs	coding	Pathogenic
6	33438817	AG	A	G33438819T	SYNGAP1	NM_006772.3(SYNGAP1):c.1576del:p.Glu525_Val526insTer	coding	Pathogenic
6	33440720	T	TC	A33440727C	SYNGAP1	NM_006772.3(SYNGAP1):c.1677-3dup	noncoding	Benign
6	33440734	TC	T	C33440737G	SYNGAP1	NM_006772.3(SYNGAP1):c.1685del:p.Pro562fs	coding	Pathogenic
6	33440772	CT	C	T33440773G	SYNGAP1	NM_006772.3(SYNGAP1):c.1721del:p.Leu574fs	coding	Pathogenic
6	33440785	AGCGAG	A	G33440788C	SYNGAP1	NM_006772.3(SYNGAP1):c.1736_1740del:p.Arg579fs	coding	Pathogenic
6	33440793	CG	C	G33440796A	SYNGAP1	NM_006772.3(SYNGAP1):c.1744del:p.Glu582fs	coding	Pathogenic
6	33440833	TC	T	C33440835T	SYNGAP1	NM_006772.3(SYNGAP1):c.1783del:p.Leu595fs	coding	Pathogenic
6	33440842	TC	T	C33440844T	SYNGAP1	NM_006772.3(SYNGAP1):c.1792del:p.Leu598fs	coding	Pathogenic
6	33440873	CTT	C	T33440875G	SYNGAP1	NM_006772.3(SYNGAP1):c.1823_1824del:p.Phe608fs	coding	Pathogenic
6	33440957	CTT	C	T33440960C	SYNGAP1	NM_006772.3(SYNGAP1):c.1908_1909del:p.Ser637fs	coding	Pathogenic
6	33441325	TCTCCA	C	T33441325C	SYNGAP1	NM_006772.3(SYNGAP1):c.2066_2071delinsC:p.Leu689fs	coding	Pathogenic
6	33441598	GGGTCCACT	G	G33441600C	SYNGAP1	NM_006772.3(SYNGAP1):c.2135_2142del:p.Gly712fs	coding	Pathogenic
6	33441736	C	CT	A33441738T	SYNGAP1	NM_006772.3(SYNGAP1):c.2272dup:p.Tyr758fs	coding	Pathogenic
6	33441757	CA	C	A33441758G	SYNGAP1	NM_006772.3(SYNGAP1):c.2293del:p.Ser765fs	coding	Pathogenic
6	33442934	AC	A	C33442939A	SYNGAP1	NM_006772.3(SYNGAP1):c.2387del:p.Pro796fs	coding	Pathogenic
6	33442941	C	CCA	C33442945A	SYNGAP1	NM_006772.3(SYNGAP1):c.2391_2392dup:p.Pro798fs	coding	Pathogenic
6	33442969	TC	T	C33442970T	SYNGAP1	NM_006772.3(SYNGAP1):c.2418del:p.Tyr807fs	coding	Pathogenic
6	33442989	CT	C	T33442990G	SYNGAP1	NM_006772.3(SYNGAP1):c.2438del:p.Leu813fs	coding	Pathogenic
6	33443006	AGC	G	A33443006G	SYNGAP1	NM_006772.3(SYNGAP1):c.2454_2456delinsG:p.Ala819fs	coding	Pathogenic
6	33443112	CGCCTCAACAGCAGCAGT	C	C33443114T	SYNGAP1	NM_006772.3(SYNGAP1):c.2562_2578del:p.Leu855fs	coding	Pathogenic
6	33443127	AGT	A	G33443130T	SYNGAP1	NM_006772.3(SYNGAP1):c.2576_2577GT[1]:p.Val860fs	coding	Pathogenic
6	33443150	AG	A	G33443154A	SYNGAP1	NM_006772.3(SYNGAP1):c.2602del:p.Asp868fs	coding	Pathogenic
6	33443226	TC	T	C33443229A	SYNGAP1	NM_006772.3(SYNGAP1):c.2677del:p.Gln893fs	coding	Pathogenic
6	33443277	AT	A	T33443278G	SYNGAP1	NM_006772.3(SYNGAP1):c.2726del:p.Met909fs	coding	Pathogenic
6	33443340	CCT	C	C33443345T	SYNGAP1	NM_006772.3(SYNGAP1):c.2789_2790CT[2]:p.Phe932fs	coding	Pathogenic
6	33443364	GGGCCAGGTCCCCCAGGCGGCCATGGAGGGGGCGGT	G	G33443370T	SYNGAP1	NM_006772.3(SYNGAP1):c.2818_2852del:p.Gly940fs	coding	Pathogenic
6	33443467	CT	C	T33443468G	SYNGAP1	NM_006772.3(SYNGAP1):c.2916del:p.Asp974fs	coding	Pathogenic
6	33443522	CG	C	G33443526T	SYNGAP1	NM_006772.3(SYNGAP1):c.2974del:p.Val992fs	coding	Pathogenic
6	33443585	AC	A	C33443588T	SYNGAP1	NM_006772.3(SYNGAP1):c.3036del:p.Ser1013fs	coding	Pathogenic
6	33443610	CG	C	G33443612C	SYNGAP1	NM_006772.3(SYNGAP1):c.3060del:p.Gln1021fs	coding	Pathogenic
6	33443714	T	TGGGGGCAGCGGTGGGGGTGGCG	C33443741G	SYNGAP1	NM_006772.3(SYNGAP1):c.3167_3188dup:p.Pro1065fs	coding	Pathogenic
6	33443726	TG	T	G33443731T	SYNGAP1	NM_006772.3(SYNGAP1):c.3179del:p.Gly1060fs	coding	Pathogenic
6	33443777	GT	G	T33443779G	SYNGAP1	NM_006772.3(SYNGAP1):c.3227del:p.Gln1075_Leu1076insTer	coding	Pathogenic
6	33443781	ACAGT	A	T33443785C	SYNGAP1	NM_006772.3(SYNGAP1):c.3233_3236del:p.Val1078fs	coding	Pathogenic
6	33443798	G	AA	G33443798A	SYNGAP1	NM_006772.3(SYNGAP1):c.3246delinsAA:p.Pro1084fs	coding	Pathogenic
6	33443871	CAG	C	A33443874C	SYNGAP1	NM_006772.3(SYNGAP1):c.3320_3321AG[1]:p.Ser1108fs	coding	Pathogenic
6	33443924	AG	A	G33443929T	SYNGAP1	NM_006772.3(SYNGAP1):c.3377del:p.Gly1126fs	coding	Pathogenic
6	33443930	T	TG	C33443937G	SYNGAP1	NM_006772.3(SYNGAP1):c.3384dup:p.Leu1129fs	coding	Pathogenic
6	33444449	TCA	T	C33444450G	SYNGAP1	NM_006772.3(SYNGAP1):c.3415_3416del:p.Gln1139fs	coding	Pathogenic
6	33444450	C	CA	G33444452A	SYNGAP1	NM_006772.3(SYNGAP1):c.3416dup:p.Thr1140fs	coding	Pathogenic
6	33446577	G	GA	G33446580A	SYNGAP1	NM_006772.3(SYNGAP1):c.3587dup:p.Glu1197fs	coding	Pathogenic
6	33446583	GT	G	T33446584A	SYNGAP1	NM_006772.3(SYNGAP1):c.3592del:p.Tyr1198fs	coding	Pathogenic
6	33446590	G	GA	G33446592A	SYNGAP1	NM_006772.3(SYNGAP1):c.3599dup:p.Glu1201fs	coding	Pathogenic
6	33446596	AT	A	T33446598C	SYNGAP1	NM_006772.3(SYNGAP1):c.3606del:p.His1203fs	coding	Pathogenic
6	33446632	CG	C	G33446634A	SYNGAP1	NM_006772.3(SYNGAP1):c.3642del:p.Lys1215fs	coding	Pathogenic
6	33446656	A	AGGCTG	C33446662G	SYNGAP1	NM_006772.3(SYNGAP1):c.3665_3669dup:p.Leu1224fs	coding	Pathogenic
6	33446720	AGAGT	A	T33446724A	SYNGAP1	NM_006772.3(SYNGAP1):c.3732_3735del:p.Ser1244fs	coding	Pathogenic
6	33446779	ATTGGCAG	A	T33446780G	SYNGAP1	NM_006772.3(SYNGAP1):c.3788_3794del:p.Ile1263fs	coding	Pathogenic
6	34424698	CGGCTACGG	C	G34424699C	RPS10	NM_001014.5(RPS10):c.285_292del:p.Arg96fs	coding	Pathogenic
6	34424730	C	CG	C34424736G	RPS10	NM_001014.5(RPS10):c.260dup:p.Glu88fs	coding	Pathogenic
6	35455929	TG	T	G35455934T	FANCE	NM_021922.3(FANCE):c.436del:p.Val146fs	coding	Pathogenic
6	35456230	TGGA	T	G35456234A	FANCE	NM_021922.2(FANCE):c.736_738delGGA	coding	Benign
6	35457937	G	GC	A35457945C	FANCE	NM_021922.3(FANCE):c.929dup:p.Val311fs	coding	Pathogenic
6	35460597	GC	G	C35460598A	FANCE	NM_021922.3(FANCE):c.1363del:p.Gln455fs	coding	Pathogenic
6	35466560	TC	T	C35466561T	FANCE	NM_021922.2(FANCE):c.*216del	noncoding	Benign
6	35498434	GGCCGAACTGCA	G	C35498437A	TULP1	NM_003322.6(TULP1):c.1511_1521del:p.Leu504fs	coding	Pathogenic
6	35499978	C	CA	C35499980A	TULP1	NM_003322.6(TULP1):c.1495+2dup	noncoding	Pathogenic
6	35500087	GT	G	T35500089G	TULP1	NM_003322.6(TULP1):c.1388del:p.Asn463fs	coding	Pathogenic
6	35505771	CG	C	G35505774A	TULP1	NM_003322.6(TULP1):c.1081del:p.Arg361fs	coding	Pathogenic
6	35506156	CG	C	G35506160C	TULP1	NM_003322.6(TULP1):c.845del:p.Pro282fs	coding	Pathogenic
6	35506169	T	TGGGA	C35506170G	TULP1	NM_003322.6(TULP1):c.832_833insTCCC:p.Glu278fs	coding	Pathogenic
6	35509236	CT	C	T35509240G	TULP1	NM_003322.6(TULP1):c.794del:p.Lys265fs	coding	Pathogenic
6	35509249	T	TGGAG	T35509250G	TULP1	NM_003322.6(TULP1):c.781_782insCTCC:p.Lys261fs	coding	Pathogenic
6	35509302	TTTGG	T	T35509303G	TULP1	NM_003322.6(TULP1):c.725_728del:p.Pro242fs	coding	Pathogenic
6	35509673	CAAC	AAT	C35509673A	TULP1	NM_003322.6(TULP1):c.676_679delinsATT:p.Val226fs	coding	Pathogenic
6	35509899	T	TA	C35509900A	TULP1	NM_003322.6(TULP1):c.528_529insT:p.Lys177Ter	coding	Pathogenic
6	35509902	G	GT	G35509904T	TULP1	NM_003322.6(TULP1):c.525dup:p.Pro176fs	coding	Pathogenic
6	35509903	T	TG	T35509910G	TULP1	NM_003322.6(TULP1):c.524dup:p.Pro176fs	coding	Pathogenic
6	35512221	TC	T	C35512222G	TULP1	NM_003322.6(TULP1):c.148del:p.Glu50fs	coding	Pathogenic
6	35805915	GC	G	C35805920T	LHFPL5	NM_182548.4(LHFPL5):c.250del:p.Pro83_Leu84insTer	coding	Pathogenic
6	35814781	CG	C	G35814783T	LHFPL5	NM_182548.4(LHFPL5):c.649+1del	coding	Pathogenic
6	36295375	TTAC	T	T36295382C	PNPLA1	NM_173676.2(PNPLA1):c.442_444TAC[2]:p.Tyr150del	coding	Pathogenic
6	36301960	G	GCAGT	A36301967G	PNPLA1	NM_173676.2(PNPLA1):c.593_596dup:p.Pro200fs	coding	Pathogenic
6	36302380	TG	T	G36302385C	PNPLA1	NM_173676.2(PNPLA1):c.1015del:p.Ala339fs	coding	Pathogenic
6	36794654	GGA	G	A36794662G	CPNE5	NM_020939.2(CPNE5):c.405-13TC[3]	noncoding	Benign
6	38723186	TAA	T	A38723189G	DNAH8	NM_001206927.2(DNAH8):c.380_381del:p.Lys127fs	coding	Pathogenic
6	38783138	C	CG	T38783141G	DNAH8	NM_001206927.2(DNAH8):c.2395+1dup	coding	Pathogenic
6	38786857	AAG	A	A38786858T	DNAH8	NM_001206927.2(DNAH8):c.2489_2490del:p.Lys830fs	coding	Pathogenic
6	38803225	A	AT	G38803227T	DNAH8	NM_001206927.2(DNAH8):c.2949dup:p.Val984fs	coding	Pathogenic
6	38815615	GTGACCCA	G	G38815617C	DNAH8	NM_001206927.2(DNAH8):c.3483_3489del:p.Thr1162fs	coding	Pathogenic
6	38870530	AACCATCC	A	A38870534C	DNAH8	NM_001206927.2(DNAH8):c.6962_6968del:p.His2321fs	coding	Pathogenic
6	38873382	A	AT	G38873392T	DNAH8	NM_001206927.2(DNAH8):c.7620+15dup	noncoding	Benign
6	38873382	AT	A	T38873391G	DNAH8	NM_001206927.2(DNAH8):c.7620+15del	noncoding	Benign
6	38875761	GT	G	T38875763G	DNAH8	NM_001206927.2(DNAH8):c.7793del:p.Leu2598fs	coding	Pathogenic
6	38883027	T	TAG	C38883031G	DNAH8	NM_001206927.2(DNAH8):c.7978_7979dup:p.Asp2660fs	coding	Pathogenic
6	38899804	GA	G	A38899807T	DNAH8	NM_001206927.2(DNAH8):c.9095del:p.Asn3032fs	coding	Pathogenic
6	38911592	AGGAAT	A	A38911605G	DNAH8	NM_001206927.2(DNAH8):c.9859+7GGAAT[2]	noncoding	Benign
6	38917234	TA	T	A38917235T	DNAH8	NM_001206927.2(DNAH8):c.10141-4del	noncoding	Benign
6	38938947	GA	G	A38938948G	DNAH8	NM_001206927.2(DNAH8):c.11967del:p.Thr3991fs	coding	Pathogenic
6	39904578	G	GAAAT	G39904586T	MOCS1	NM_001358530.2(MOCS1):c.*1775_*1778dup	noncoding	Benign
6	39909936	G	GA	G39909938A	MOCS1	NM_001358530.2(MOCS1):c.1000dup:p.Ser334fs	coding	Pathogenic
6	39913351	CA	C	A39913352G	MOCS1	NM_001358530.2(MOCS1):c.722del:p.Leu241fs	coding	Pathogenic
6	39913794	GCTCGATGGCCTTGTGGATGCC	G	G39913798C	MOCS1	NM_001358530.2(MOCS1):c.604_624del:p.Gly202_Glu208del	coding	Pathogenic
6	41163036	ATCC	A	C41163038A	TREM2	NM_018965.4(TREM2):c.40+4_40+6del	noncoding	Pathogenic/Likely_pathogenic
6	42178809	GC	TT	G42178809T	GUCA1A;LOC118142757	NM_000409.4(GUCA1A):c.359_360delinsTT:p.Arg120Leu	coding	Pathogenic
6	42178878	T	ACAC	T42178878A	GUCA1A;LOC118142757	NM_000409.4(GUCA1A):c.428delinsACAC:p.Ile143delinsAsnThr	coding	Pathogenic/Likely_pathogenic
6	42698401	AC	A	C42698402G	PRPH2	NM_000322.5(PRPH2):c.934del:p.Val312fs	coding	Pathogenic
6	42698415	CA	C	A42698416G	PRPH2	NM_000322.5(PRPH2):c.920del:p.Leu307fs	coding	Pathogenic
6	42698426	GG	CA	G42698426C	PRPH2	NM_000322.5(PRPH2):c.909_910delinsTG:p.Gln304Glu	coding	Benign
6	42698437	TCA	T	C42698438G	PRPH2	NM_000322.5(PRPH2):c.897_898del:p.Ser301fs	coding	Pathogenic
6	42704382	GGA	G	A42704384C	PRPH2	NM_000322.5(PRPH2):c.809_810del:p.Leu270fs	coding	Pathogenic
6	42704417	CTG	C	G42704419A	PRPH2	NM_000322.5(PRPH2):c.774_775del:p.Tyr258_Ser259delinsTer	coding	Pathogenic
6	42704432	AG	A	G42704435C	PRPH2	NM_000322.5(PRPH2):c.760del:p.Leu254fs	coding	Pathogenic
6	42704485	G	GT	A42704487T	PRPH2	NM_000322.5(PRPH2):c.707dup:p.Tyr236Ter	coding	Pathogenic
6	42704492	TA	T	A42704493G	PRPH2	NM_000322.5(PRPH2):c.700del:p.Tyr234fs	coding	Pathogenic
6	42704503	GTTGT	G	T42704505G	PRPH2	NM_000322.5(PRPH2):c.686_689del:p.Asn229fs	coding	Pathogenic
6	42704534	CGTG	C	T42704536C	PRPH2	NM_000322.5(PRPH2):c.656_658del:p.Pro219del	coding	Pathogenic
6	42704544	TAGG	CC	T42704544C	PRPH2	NM_000322.5(PRPH2):c.646_649delinsGG:p.Pro216fs	coding	Pathogenic/Likely_pathogenic
6	42704567	ACGCCGTCCACCAGGTAC	A	G42704572C	PRPH2	NM_000322.5(PRPH2):c.609_625del:p.Tyr204fs	coding	Pathogenic
6	42704575	C	CACCAGGT	G42704586A	PRPH2	NM_000322.5(PRPH2):c.611_617dup:p.Asp207fs	coding	Pathogenic
6	42704604	TGATTC	T	T42704607C	PRPH2	NM_000322.5(PRPH2):c.584_588del:p.Arg195fs	coding	Pathogenic
6	42721755	CTT	C	T42721757G	PRPH2	NM_000322.5(PRPH2):c.578_579del:p.Lys193fs	coding	Pathogenic
6	42721871	GTCT	AGACCA	G42721871A	PRPH2	NM_000322.5(PRPH2):c.461_464delinsTGGTCT:p.Lys154fs	coding	Pathogenic
6	42721871	GTCT	G	T42721877A	PRPH2	NM_000322.5(PRPH2):c.458_460AGA[1]:p.Lys154del	coding	Pathogenic
6	42721893	CA	C	A42721894G	PRPH2	NM_000322.5(PRPH2):c.441del:p.Gly148fs	coding	Pathogenic
6	42721913	T	TAGTA	C42721918A	PRPH2	NM_000322.5(PRPH2):c.418_421dup:p.Tyr141fs	coding	Pathogenic
6	42721940	TG	T	G42721942C	PRPH2	NM_000322.5(PRPH2):c.394del:p.Gln132fs	coding	Pathogenic
6	42721976	AAGC	A	C42721982A	PRPH2	NM_000322.4(PRPH2):c.356_358delGCT:p.Cys119del	coding	Pathogenic
6	42722003	AT	A	T42722004G	PRPH2	NM_000322.5(PRPH2):c.331del:p.Ile111fs	coding	Pathogenic/Likely_pathogenic
6	42722016	GA	G	A42722018C	PRPH2	NM_000322.5(PRPH2):c.318del:p.Leu107fs	coding	Pathogenic/Likely_pathogenic
6	42722017	AAC	A	C42722021G	PRPH2	NM_000322.5(PRPH2):c.314_315GT[1]:p.Val106fs	coding	Pathogenic
6	42722021	CAGAT	C	A42722024C	PRPH2	NM_000322.5(PRPH2):c.310_313del:p.Ile104fs	coding	Pathogenic
6	42722068	GGCTGGGTC	G	G42722069C	PRPH2	NM_000322.5(PRPH2):c.259_266del:p.Asp87fs	coding	Pathogenic
6	42722097	T	TC	A42722101C	PRPH2	NM_000322.5(PRPH2):c.237dup:p.Lys80fs	coding	Pathogenic
6	42722129	AC	A	C42722134A	PRPH2	NM_000322.5(PRPH2):c.205del:p.Val69fs	coding	Pathogenic
6	42722133	CCATC	TGTGTCTT	C42722133T	PRPH2	NM_000322.5(PRPH2):c.198_202delinsAAGACACA:p.Met67_Gly68delinsArgHisArg	coding	Pathogenic
6	42722171	GA	G	A42722173T	PRPH2	NM_000322.5(PRPH2):c.163del:p.Ser55fs	coding	Pathogenic
6	42722186	TC	T	C42722187G	PRPH2	NM_000322.5(PRPH2):c.148del:p.Asp50fs	coding	Pathogenic
6	42722221	TC	T	C42722223T	PRPH2	NM_000322.5(PRPH2):c.113del:p.Gly38fs	coding	Pathogenic
6	42938655	A	AGGCAGCAGGCGGCAGGAGT	A42938675G	CNPY3	NM_006586.5(CNPY3):c.702_720dup:p.Ser241delinsGlySerArgArgGlnGluTer	coding	Pathogenic
6	42963889	GTTTA	G	T42963895G	PEX6	NM_000287.4(PEX6):c.*438_*441TAAA[1]	noncoding	Benign
6	42965712	GC	G	C42965717G	PEX6	NM_000287.4(PEX6):c.2439del:p.Arg814fs	coding	Pathogenic
6	42965735	TCCAGTTCATCAAAGAAGAT	A	T42965735A	PEX6	NM_000287.4(PEX6):c.2398_2417delinsT:p.Ile800fs	coding	Pathogenic
6	42965745	CA	C	A42965748G	PEX6	NM_000287.4(PEX6):c.2406del:p.Phe802fs	coding	Pathogenic
6	42965786	AAC	A	A42965789T	PEX6	NM_000287.4(PEX6):c.2364_2365del:p.Phe789Cysfs	coding	Pathogenic/Likely_pathogenic
6	42966536	CA	C	A42966538C	PEX6	NM_000287.4(PEX6):c.2082del:p.Gly695fs	coding	Pathogenic/Likely_pathogenic
6	42966795	TC	T	C42966797T	PEX6	NM_000287.4(PEX6):c.1947del:p.Ile650fs	coding	Pathogenic
6	42967410	CA	C	A42967411G	PEX6	NM_000287.4(PEX6):c.1841del:p.Leu614fs	coding	Pathogenic/Likely_pathogenic
6	42969695	GCA	G	C42969698G	PEX6	NM_000287.4(PEX6):c.1336_1337TG[1]:p.Ala447fs	coding	Pathogenic
6	42969713	AAGGCCTCC	A	C42969720G	PEX6	NM_000287.4(PEX6):c.1314_1321del:p.Glu439fs	coding	Pathogenic
6	42969733	AG	A	G42969734A	PEX6	NM_000287.4(PEX6):c.1301del:p.Ser434fs	coding	Pathogenic
6	42969747	AG	A	G42969748A	PEX6	NM_000287.4(PEX6):c.1287del:p.Trp430fs	coding	Pathogenic/Likely_pathogenic
6	42969806	G	GAA	G42969810A	PEX6	NM_000287.4(PEX6):c.1234-8_1234-7dup	noncoding	Benign/Likely_benign
6	42975065	TA	T	A42975067C	PEX6	NM_000287.4(PEX6):c.883-28del	noncoding	Benign
6	42978266	TACCTGAATTCTGAGCTCTCCCATTTCCAGGGGGTCACAGCCAAGATTAAAAGCCAAAGTGGCAGGGACAAGCGCCAGTCCGTCAGCGAGGGGCTCTCCCAGCGGTCCAGAGCCGGGTCCCAGTCTATCAGAGAGGTCCCAGCGAGGTTCTAGGACCTGCACCCTAGCCAAGTGCGGCTGTGAAGTGTTCGATGACTCTCTGGCCTGGGCCACCCACACCCATTCGCCCTGGAAGAGGCCAAGGCCACGGAGACAGCTCCGGCTC	T	T42978270C	PEX6	NM_000287.4(PEX6):c.621_882+2del	noncoding	Pathogenic
6	42978335	AAGCGCCAGTCCGTC	A	C42978340A	PEX6	NM_000287.4(PEX6):c.802_815del:p.Asp268fs	coding	Pathogenic
6	42978460	A	ACT	G42978467C	PEX6	NM_000287.4(PEX6):c.685_686AG[4]:p.Ser232fs	coding	Pathogenic
6	42978466	T	TG	C42978469G	PEX6	NM_000287.4(PEX6):c.684dup:p.Arg229fs	coding	Pathogenic
6	42978494	CT	C	T42978495G	PEX6	NM_000287.4(PEX6):c.656del:p.Gln219fs	coding	Pathogenic
6	42978633	CT	C	T42978634G	PEX6	NM_000287.4(PEX6):c.517del:p.Ser173fs	coding	Pathogenic
6	42978639	CCA	C	C42978640G	PEX6	NM_000287.4(PEX6):c.510_511del:p.Asp172fs	coding	Pathogenic
6	42978762	GTCTC	G	T42978765C	PEX6	NM_000287.4(PEX6):c.383_384GA[1]:p.Glu129fs	coding	Pathogenic/Likely_pathogenic
6	42978839	AC	A	C42978841T	PEX6	NM_000287.4(PEX6):c.311del:p.Gly104fs	coding	Pathogenic/Likely_pathogenic
6	42978912	AGC	A	C42978918G	PEX6	NM_000287.4(PEX6):c.233_234GC[2]:p.Leu80fs	coding	Pathogenic
6	43007404	TC	T	C43007408T	PPP2R5D	NM_006245.4(PPP2R5D):c.634-6del	noncoding	Benign
6	43038458	G	GA	T43038461A	CUL7	NM_014780.4(CUL7):c.4581dup:p.Arg1528fs	coding	Pathogenic
6	43038656	GC	G	C43038659T	CUL7	NM_014780.4(CUL7):c.4476del:p.Leu1493fs	coding	Pathogenic
6	43038680	CCA	C	C43038683G	CUL7	NM_014780.5(CUL7):c.4449_4450TG[1]:p.Val1484fs	coding	Pathogenic
6	43043155	CCA	C	C43043156G	CUL7	NM_014780.4(CUL7):c.3379_3380del:p.Trp1127fs	coding	Pathogenic
6	43045320	CAG	C	A43045323C	CUL7	NM_001168370.1(CUL7):c.3193_3194CT[1]:p.Cys1066fs	coding	Pathogenic
6	43045661	TG	T	G43045663C	CUL7	NM_014780.4(CUL7):c.2787del:p.Ser930fs	coding	Pathogenic
6	43046336	TG	T	G43046338C	CUL7	NM_014780.4(CUL7):c.2559del:p.Ser854fs	coding	Pathogenic
6	43046560	TT	CC	T43046560C	CUL7	NM_001168370.1(CUL7):c.2690_2691delinsGG:p.Gln897Arg	coding	Benign
6	43048186	AG	CAGGCA	A43048186C	CUL7	NM_014780.4(CUL7):c.2130_2131delinsTGCCTG:p.Cys711fs	coding	Pathogenic
6	43051027	TCTC	T	C43051031A	CUL7	NM_014780.5(CUL7):c.1168_1170GAG[1]:p.Glu391del	coding	Benign
6	43051281	AGCTCCGAGATCAGGGTGCCCAT	A	C43051283G	CUL7	NM_014780.4(CUL7):c.898_919del:p.Met300fs	coding	Pathogenic
6	43051691	CG	C	G43051693C	CUL7	NM_014780.5(CUL7):c.652del:p.Arg218fs	coding	Pathogenic
6	43342217	TG	T	G43342218T	ZNF318	NM_014345.3(ZNF318):c.3277-7del	noncoding	Benign
6	43520142	TAA	T	A43520144G	POLR1C	NM_203290.4(POLR1C):c.461_462del:p.Lys154fs	coding	Pathogenic
6	43520295	TG	T	G43520297A	POLR1C	NM_203290.4(POLR1C):c.525del:p.Thr174_Trp175insTer	coding	Pathogenic/Likely_pathogenic
6	43520384	TG	T	G43520386C	POLR1C	NM_203290.4(POLR1C):c.614del:p.Gly205fs	coding	Pathogenic
6	43520386	GC	G	C43520388A	POLR1C	NM_203290.4(POLR1C):c.616del:p.Gln206fs	coding	Pathogenic
6	43521005	AAAG	A	A43521009G	POLR1C	NM_203290.4(POLR1C):c.880_882AAG[1]:p.Lys295del	coding	Pathogenic/Likely_pathogenic
6	43521039	CATTAT	C	T43521042C	POLR1C	NM_203290.4(POLR1C):c.916_920del:p.Tyr306fs	coding	Pathogenic
6	43583075	AG	A	G43583076A	POLH	NM_006502.2(POLH):c.207del:p.Lys70fs	coding	Pathogenic
6	43583090	ATCT	A	T43583094A	POLH	NM_001291969.2(POLH):c.68_70TCT[1]:p.Phe24del	coding	Pathogenic
6	43597715	CT	C	T43597717A	POLH	NM_006502.2(POLH):c.512del:p.Leu171fs	coding	Pathogenic
6	43613730	GACATC	G	A43613733C	POLH	NM_001291970.2(POLH):c.*2_*6del:p.Ter415=	coding	Pathogenic
6	43614075	CA	C	A43614079C	POLH	NM_001291970.2(POLH):c.*348del	coding	Pathogenic
6	43616586	C	CA	C43616601A	POLH	NM_006502.2(POLH):c.*2043dup	noncoding	Benign
6	43645297	CA	C	A43645298G	RSPH9	NM_152732.5(RSPH9):c.200del:p.Gln67fs	coding	Pathogenic
6	43670917	GAGA	G	G43670922C	RSPH9	NM_152732.5(RSPH9):c.801_803GAA[1]:p.Lys268del	coding	Pathogenic
6	44254784	GAGC	G	C44254787G	SLC35B2	NM_178148.4(SLC35B2):c.1218_1220del:p.Leu407del	coding	Pathogenic
6	44298911	C	CTT	G44298913T	AARS2	NM_020745.4(AARS2):c.*1635_*1636insAA	noncoding	Benign
6	44299913	T	TAGGGCACCCATACC	T44299917G	AARS2	NM_020745.4(AARS2):c.*633_*634insGGTATGGGTGCCCT	noncoding	Benign
6	44299991	A	ATTTAT	A44299994T	AARS2	NM_020745.4(AARS2):c.*555_*556insATAAA	noncoding	Benign
6	44306404	GAGA	G	A44306410T	AARS2	NM_020745.4(AARS2):c.1189-16_1189-14del	noncoding	Benign/Likely_benign
6	44307280	C	CA	G44307282A	AARS2	NM_020745.4(AARS2):c.1008dup:p.Asp337Ter	coding	Pathogenic
6	44311095	G	GC	A44311098C	AARS2	NM_020745.4(AARS2):c.647dup:p.Cys218fs	coding	Pathogenic
6	44311565	G	GA	G44311566A	AARS2	NM_020745.4(AARS2):c.436-31_436-30insT	noncoding	Benign
6	45328715	AAAG	A	A45328716G	RUNX2	NM_001024630.4(RUNX2):c.-11_-9del	coding	Benign/Likely_benign
6	45422617	G	GC	T45422625C	RUNX2	NM_001024630.4(RUNX2):c.90dup:p.Ser31fs	coding	Pathogenic
6	45422723	GCAGCAACAGCAGCA	ACAGCAGCAGCAGCAGCAGCAACAGCAGCCG	G45422723A	RUNX2	NM_001024630.4(RUNX2):c.189_203delinsACAGCAGCAGCAGCAGCAGCAACAGCAGCCG:p.Glu72fs	coding	Pathogenic
6	45422730	C	CCAG	A45422731C	RUNX2;LOC109611589	NM_001024630.4(RUNX2):c.196_197insCAG:p.Gln66delinsProGlu	coding	Benign
6	45422749	AGGCGGCGGCGGCGGCTGC	A	G45422777A	RUNX2	NM_001024630.4(RUNX2):c.225_242GGCGGCTGCGGCGGCGGC[1]:p.Ala84_Ala89del	coding	Benign/Likely_benign
6	45422753	G	GGCGGCGGCGGCTGCGGCGGCGGCGGCGGCT	A45422795T	RUNX2	NM_001024630.4(RUNX2):c.231_260dup:p.Ala80_Ala89dup	coding	Pathogenic
6	45422860	AC	A	C45422863G	RUNX2	NM_001024630.4(RUNX2):c.329del:p.Pro110fs	coding	Pathogenic
6	45546928	AC	A	C45546930T	RUNX2	NM_001024630.4(RUNX2):c.1191del:p.Phe398fs	coding	Pathogenic
6	45546940	A	AC	G45546945C	RUNX2	NM_001024630.4(RUNX2):c.1205dup:p.Pro403fs	coding	Pathogenic
6	45546945	G	GC	A45546948C	RUNX2	NM_001024630.4(RUNX2):c.1208dup:p.Val404fs	coding	Pathogenic
6	45546964	T	TC	T45546968C	RUNX2	NM_001024630.4(RUNX2):c.1228dup:p.Leu410fs	coding	Pathogenic
6	45547011	A	AC	T45547015C	RUNX2	NM_001024630.4(RUNX2):c.1275dup:p.Tyr426fs	coding	Pathogenic
6	45547116	G	GC	G45547119C	RUNX2	NM_001024630.4(RUNX2):c.1379dup:p.Asp463fs	coding	Pathogenic
6	45547896	GT	G	T45547913C	RUNX2	NM_001024630.4(RUNX2):c.*608del	noncoding	Benign
6	45550002	CT	C	T45550017C	RUNX2	NM_001024630.4(RUNX2):c.*2712del	noncoding	Benign
6	45903262	CAG	C	G45903266T	CLIC5	NM_016929.5(CLIC5):c.589-9_589-8del	noncoding	Benign
6	47576523	GC	CT	G47576523C	CD2AP	NM_012120.3(CD2AP):c.730-1_730delinsCT	coding	Pathogenic
6	47624592	GT	G	T47624594A	CD2AP	NM_012120.3(CD2AP):c.*367del	noncoding	Benign
6	47626447	A	AT	C47626456T	CD2AP	NM_012120.3(CD2AP):c.*2228dup	noncoding	Benign
6	49431784	C	CGGCA	C49431790G	MMUT	NM_000255.4(MMUT):c.2193_2196dup:p.Val733fs	coding	Pathogenic
6	49431784	CGGC	TTCCA	C49431784T	MMUT	NM_000255.4(MMUT):c.2194_2197delinsTGGAA:p.Ala732fs	coding	Pathogenic
6	49435501	TC	T	C49435503A	MMUT	NM_000255.4(MMUT):c.2078del:p.Gly693fs	coding	Pathogenic
6	49435616	CGA	C	A49435618G	MMUT	NM_000255.4(MMUT):c.1962_1963del:p.Pro654_Arg655insTer	coding	Pathogenic
6	49440272	TCCTCTGTCATGGC	T	C49440274A	MMUT	NM_000255.4(MMUT):c.1877_1889del:p.Gly626fs	coding	Pathogenic
6	49440276	C	CT	G49440278T	MMUT	NM_000255.4(MMUT):c.1885dup:p.Arg629fs	coding	Pathogenic
6	49444684	CC	TA	C49444684T	MMUT	NM_000255.4(MMUT):c.1630_1631delinsTA:p.Gly544Ter	coding	Pathogenic
6	49448814	AC	A	C49448816A	MMUT	NM_000255.4(MMUT):c.1444+1del	noncoding	Pathogenic
6	49448818	GA	G	A49448820T	MMUT	NM_000255.4(MMUT):c.1441del:p.Ser481fs	coding	Pathogenic
6	49448935	GAAAAACATTAAC	G	A49448940C	MMUT	NM_000255.4(MMUT):c.1333-20_1333-9del	noncoding	Pathogenic
6	49451464	AC	A	C49451466T	MMUT	NM_000255.4(MMUT):c.1332+1del	noncoding	Pathogenic
6	49451469	T	TA	G49451473A	MMUT	NM_000255.4(MMUT):c.1328dup:p.Leu443fs	coding	Pathogenic
6	49451579	TC	T	C49451581T	MMUT	NM_000255.4(MMUT):c.1218del:p.Asn407fs	coding	Pathogenic
6	49451600	TCA	T	C49451603G	MMUT	NM_000255.4(MMUT):c.1194_1195TG[1]:p.Val399fs	coding	Pathogenic
6	49451616	C	CA	G49451620A	MMUT	NM_000255.4(MMUT):c.1181dup:p.Leu394fs	coding	Pathogenic
6	49451670	TGC	T	G49451671C	MMUT	NM_000255.4(MMUT):c.1126_1127del:p.Ala376fs	coding	Pathogenic/Likely_pathogenic
6	49451683	ATTGCAGTACGGACAATATTATTG	A	T49451685A	MMUT	NM_000255.4(MMUT):c.1092_1114del:p.Asn365fs	coding	Pathogenic/Likely_pathogenic
6	49453599	A	ACCAT	G49453607T	MMUT	NM_000255.4(MMUT):c.1065_1068dup:p.Ser357fs	coding	Pathogenic
6	49453627	TAGA	T	A49453634G	MMUT	NM_000255.4(MMUT):c.1032_1034TCT[2]:p.Leu347del	coding	Pathogenic/Likely_pathogenic
6	49453645	G	GT	A49453651T	MMUT	NM_000255.4(MMUT):c.1022dup:p.Asn341fs	coding	Pathogenic
6	49453660	CA	C	A49453661T	MMUT	NM_000255.4(MMUT):c.1007del:p.Met336fs	coding	Pathogenic
6	49456136	C	CA	T49456139A	MMUT	NM_000255.4(MMUT):c.854dup:p.Leu285fs	coding	Pathogenic
6	49456179	GC	G	C49456183T	MMUT	NM_000255.4(MMUT):c.811del:p.Ala271fs	coding	Pathogenic
6	49456180	CC	T	C49456180T	MMUT	NM_000255.4(MMUT):c.810_811delinsA:p.Ala271fs	coding	Pathogenic
6	49456235	G	GT	G49456237T	MMUT	NM_000255.4(MMUT):c.755dup:p.His252fs	coding	Pathogenic
6	49457714	C	CAA	G49457716A	MMUT	NM_000255.4(MMUT):c.729_730insTT:p.Asp244fs	coding	Pathogenic
6	49457751	G	GT	A49457753T	MMUT	NM_000255.4(MMUT):c.692dup:p.Tyr231Ter	coding	Pathogenic
6	49457765	C	CCATAAATT	C49457775A	MMUT	NM_000255.4(MMUT):c.671_678dup:p.Val227fs	coding	Pathogenic
6	49457813	CT	C	T49457816A	MMUT	NM_000255.4(MMUT):c.630del:p.Glu211fs	coding	Pathogenic
6	49457821	AC	A	C49457822A	MMUT	NM_000255.4(MMUT):c.622del:p.Val208fs	coding	Pathogenic
6	49457828	GTTC	G	T49457833C	MMUT	NM_000255.4(MMUT):c.610_612GAA[1]:p.Glu205del	coding	Pathogenic
6	49457929	AT	A	T49457933G	MMUT	NM_000255.4(MMUT):c.514del:p.Ile172fs	coding	Pathogenic
6	49458022	GC	G	C49458024A	MMUT	NM_000255.4(MMUT):c.421del:p.Ala141fs	coding	Pathogenic
6	49459106	T	TA	T49459108A	MMUT	NM_000255.4(MMUT):c.360dup:p.Lys121Ter	coding	Pathogenic
6	49459144	CG	C	G49459146A	MMUT	NM_000255.4(MMUT):c.322del:p.Arg108fs	coding	Pathogenic
6	49459154	AG	A	G49459157C	MMUT	NM_000255.4(MMUT):c.312del:p.Trp105fs	coding	Pathogenic/Likely_pathogenic
6	49459411	A	AC	T49459414C	MMUT	NM_000255.4(MMUT):c.55dup:p.Val19fs	coding	Pathogenic
6	49459436	G	GT	A49459438T	MMUT	NM_000255.4(MMUT):c.30dup:p.Leu11fs	coding	Pathogenic
6	49459437	T	TA	G49459445A	MMUT	NM_000255.4(MMUT):c.29dup:p.Leu10fs	coding	Pathogenic
6	49607201	CT	C	T49607202G	RHAG	NM_000324.2(RHAG):c.1086del:p.Ala363fs	coding	Pathogenic
6	49636656	GAGG	TC	G49636656T	RHAG	NM_000324.2(RHAG):c.154_157delinsGA:p.Pro52fs	coding	Pathogenic
6	50823758	CGCCG	C	C50823764A	TFAP2B	NM_003221.4(TFAP2B):c.435_438CCGG[1]:p.Pro147fs	coding	Pathogenic
6	50823871	CACAA	C	C50823893A	TFAP2B	NM_003221.4(TFAP2B):c.540+7ACAA[5]	noncoding	Benign
6	50836107	CG	C	G50836109C	TFAP2B	NM_003221.4(TFAP2B):c.650del:p.Gly217fs	coding	Pathogenic
6	51627005	AC	A	C51627007A	PKHD1	NM_138694.4(PKHD1):c.11776del:p.Val3926fs	coding	Pathogenic/Likely_pathogenic
6	51632517	C	CT	C51632526T	PKHD1	NM_138694.4(PKHD1):c.11665+40dup	noncoding	Benign
6	51659127	CA	C	A51659129T	PKHD1	NM_138694.4(PKHD1):c.10998del:p.Ile3666fs	coding	Pathogenic
6	51659138	ACAAT	A	A51659141C	PKHD1	NM_138694.4(PKHD1):c.10984_10987del:p.Ile3662fs	coding	Pathogenic
6	51659265	TGC	T	G51659268T	PKHD1	NM_138694.4(PKHD1):c.10859_10860del:p.Arg3620fs	coding	Pathogenic/Likely_pathogenic
6	51659269	CT	C	T51659272C	PKHD1	NM_138694.4(PKHD1):c.10856del:p.Lys3619fs	coding	Pathogenic
6	51659488	GA	G	A51659489C	PKHD1	NM_138694.4(PKHD1):c.10637del:p.Val3546fs	coding	Pathogenic
6	51659490	CAACATACA	C	A51659492G	PKHD1	NM_138694.4(PKHD1):c.10628_10635del:p.Leu3543fs	coding	Pathogenic/Likely_pathogenic
6	51659673	G	GA	G51659680A	PKHD1	NM_138694.4(PKHD1):c.10452dup:p.Leu3485fs	coding	Pathogenic/Likely_pathogenic
6	51659682	GC	G	C51659683A	PKHD1	NM_138694.4(PKHD1):c.10443del:p.Leu3481fs	coding	Pathogenic
6	51744414	GC	G	C51744416T	PKHD1	NM_138694.4(PKHD1):c.10126del:p.Ala3376fs	coding	Pathogenic
6	51744495	GGACTTGCACA	G	A51744497T	PKHD1	NM_138694.4(PKHD1):c.10036_10045del:p.Cys3346fs	coding	Pathogenic/Likely_pathogenic
6	51747892	C	CA	T51747895A	PKHD1	NM_138694.4(PKHD1):c.9723dup:p.Gly3242fs	coding	Pathogenic
6	51747916	AG	A	G51747919A	PKHD1	NM_138694.4(PKHD1):c.9699del:p.Ser3234fs	coding	Pathogenic
6	51747926	AT	A	T51747927C	PKHD1	NM_138694.4(PKHD1):c.9689del:p.Asp3230fs	coding	Pathogenic
6	51748056	GA	G	A51748060T	PKHD1	NM_138694.4(PKHD1):c.9559del:p.Ser3187fs	coding	Pathogenic/Likely_pathogenic
6	51748433	A	ATGTCACTAAT	G51748434T	PKHD1	NM_138694.4(PKHD1):c.9182_9183insATTAGTGACA:p.Asn3062fs	coding	Pathogenic
6	51753238	CACAA	C	A51753242G	PKHD1	NM_138694.4(PKHD1):c.8909_8912del:p.Phe2970fs	coding	Pathogenic
6	51753375	GA	G	A51753384C	PKHD1	NM_138694.4(PKHD1):c.8798-23del	noncoding	Benign
6	51754903	T	TG	C51754909G	PKHD1	NM_138694.4(PKHD1):c.8677dup:p.His2893fs	coding	Pathogenic/Likely_pathogenic
6	51772714	GA	G	A51772715G	PKHD1	NM_138694.4(PKHD1):c.8629del:p.Ser2877fs	coding	Pathogenic
6	51775908	AT	A	T51775912C	PKHD1	NM_138694.4(PKHD1):c.8453del:p.Asn2818fs	coding	Pathogenic
6	51830873	GA	G	A51830875C	PKHD1	NM_138694.4(PKHD1):c.8289del:p.Leu2764fs	coding	Pathogenic
6	51830972	CA	C	A51830973G	PKHD1	NM_138694.4(PKHD1):c.8190del:p.Glu2731fs	coding	Pathogenic
6	51836462	AC	A	C51836464T	PKHD1	NM_138694.4(PKHD1):c.8114del:p.Gly2705fs	coding	Pathogenic
6	51847904	GCGGCA	G	C51847905A	PKHD1	NM_138694.4(PKHD1):c.7973_7977del:p.Leu2658fs	coding	Pathogenic
6	51847913	CTG	C	T51847918C	PKHD1	NM_138694.4(PKHD1):c.7963_7964CA[2]:p.Thr2656fs	coding	Pathogenic
6	51855915	AG	A	G51855917T	PKHD1	NM_138694.4(PKHD1):c.7888del:p.Leu2630fs	coding	Pathogenic
6	51855976	GGTTAGACAATGTATCAC	G	T51855979A	PKHD1	NM_138694.4(PKHD1):c.7811_7827del:p.Arg2604fs	coding	Pathogenic
6	51856038	GT	A	G51856038A	PKHD1	NM_138694.4(PKHD1):c.7765_7766delinsT:p.Thr2589fs	coding	Pathogenic
6	51867876	T	TA	C51867878A	PKHD1	NM_138694.4(PKHD1):c.7719dup:p.Met2574fs	coding	Pathogenic
6	51867959	AG	A	G51867962T	PKHD1	NM_138694.4(PKHD1):c.7636del:p.Leu2546fs	coding	Pathogenic
6	51868035	C	CA	T51868037A	PKHD1	NM_138694.4(PKHD1):c.7560dup:p.Ala2521fs	coding	Pathogenic
6	51885959	CA	C	A51885962G	PKHD1	NM_138694.4(PKHD1):c.7122del:p.Phe2374fs	coding	Pathogenic
6	51887179	CT	C	T51887181G	PKHD1	NM_138694.4(PKHD1):c.7062del:p.Ala2355fs	coding	Pathogenic
6	51903728	CT	TC	C51903728T	PKHD1	NM_138694.4(PKHD1):c.6866-2_6866-1delinsGA	noncoding	Pathogenic/Likely_pathogenic
6	51906244	TA	T	A51906245G	PKHD1	NM_138694.4(PKHD1):c.6778del:p.Tyr2260fs	coding	Pathogenic
6	51909453	TACAAA	T	A51909454C	PKHD1	NM_138694.4(PKHD1):c.6507_6511del:p.Cys2169_Tyr2171delinsTer	coding	Pathogenic
6	51911905	TA	T	A51911909T	PKHD1	NM_138694.4(PKHD1):c.6383del:p.Ile2127_Leu2128insTer	coding	Pathogenic
6	51911962	GAA	G	A51911968G	PKHD1	NM_138694.4(PKHD1):c.6333-8_6333-7del	noncoding	Benign/Likely_benign
6	51934139	GC	G	C51934141A	PKHD1	NM_138694.4(PKHD1):c.6091del:p.Ala2031fs	coding	Pathogenic/Likely_pathogenic
6	51934201	CT	C	T51934202G	PKHD1	NM_138694.4(PKHD1):c.6029del:p.Gln2010fs	coding	Pathogenic
6	51934277	GC	G	C51934280T	PKHD1	NM_138694.4(PKHD1):c.5953del:p.Ala1985fs	coding	Pathogenic
6	51959882	G	GT	A51959884T	PKHD1	NM_138694.4(PKHD1):c.5895dup:p.Leu1966fs	coding	Pathogenic
6	51959897	TTG	T	G51959901T	PKHD1	NM_138694.4(PKHD1):c.5877_5878CA[1]:p.Thr1960fs	coding	Pathogenic/Likely_pathogenic
6	52010394	TC	T	C52010395A	PKHD1	NM_138694.4(PKHD1):c.5665del:p.Glu1889fs	coding	Pathogenic
6	52017598	AC	A	C52017599G	PKHD1	NM_138694.4(PKHD1):c.5411del:p.Arg1804fs	coding	Pathogenic
6	52022805	CA	C	A52022806G	PKHD1	NM_138694.4(PKHD1):c.5375del:p.Leu1792fs	coding	Pathogenic
6	52022854	ACT	A	T52022856G	PKHD1	NM_138694.4(PKHD1):c.5325_5326del:p.Val1776fs	coding	Pathogenic
6	52024728	A	AC	A52024732C	PKHD1	NM_138694.4(PKHD1):c.5081dup:p.Val1695fs	coding	Pathogenic
6	52025076	AT	A	T52025077A	PKHD1	NM_138694.4(PKHD1):c.4733del:p.Tyr1578fs	coding	Pathogenic/Likely_pathogenic
6	52025316	AGA	CT	A52025316C	PKHD1	NM_138694.4(PKHD1):c.4492_4494delinsAG:p.Ser1498_Leu1499insTer	coding	Pathogenic
6	52025324	TG	T	G52025326T	PKHD1	NM_138694.4(PKHD1):c.4485del:p.Ser1496fs	coding	Pathogenic
6	52025373	G	GA	G52025378A	PKHD1	NM_138694.4(PKHD1):c.4436dup:p.Ile1480fs	coding	Pathogenic
6	52025395	C	GGGGAATA	C52025395G	PKHD1	NM_138694.4(PKHD1):c.4415delinsTATTCCCC:p.Cys1472fs	coding	Pathogenic
6	52025454	CAAGG	TGACCCCTT	C52025454T	PKHD1	NM_138694.4(PKHD1):c.4352_4356delinsAAGGGGTCA:p.Pro1451fs	coding	Pathogenic
6	52025514	CA	C	A52025515C	PKHD1	NM_138694.4(PKHD1):c.4295del:p.Val1432fs	coding	Pathogenic
6	52025668	AC	A	C52025670A	PKHD1	NM_138694.4(PKHD1):c.4141del:p.Val1381fs	coding	Pathogenic
6	52025691	C	CA	T52025693A	PKHD1	NM_138694.4(PKHD1):c.4118dup:p.Met1373fs	coding	Pathogenic
6	52025704	C	CG	T52025706G	PKHD1	NM_138694.4(PKHD1):c.4105dup:p.Arg1369fs	coding	Pathogenic
6	52025804	AG	A	G52025805T	PKHD1	NM_138694.4(PKHD1):c.4005del:p.Cys1336fs	coding	Pathogenic
6	52025850	TCC	T	C52025852A	PKHD1	NM_138694.4(PKHD1):c.3958_3959del:p.Gly1320fs	coding	Pathogenic
6	52025902	AC	A	C52025903T	PKHD1	NM_138694.4(PKHD1):c.3907del:p.Val1303fs	coding	Pathogenic
6	52026048	GG	C	G52026048C	PKHD1	NM_138694.4(PKHD1):c.3761_3762delinsG:p.Ala1254fs	coding	Pathogenic
6	52026084	TAAGTTCACAATGTCACAGGACCGATTGCCCAC	T	T52026089A	PKHD1	NM_138694.4(PKHD1):c.3694_3725del:p.Val1232fs	coding	Pathogenic
6	52028166	GA	G	A52028168T	PKHD1	NM_138694.4(PKHD1):c.3549del:p.His1184fs	coding	Pathogenic
6	52028187	A	AG	A52028189G	PKHD1	NM_138694.4(PKHD1):c.3528dup:p.Ser1177fs	coding	Pathogenic/Likely_pathogenic
6	52033080	GA	G	A52033082G	PKHD1	NM_138694.4(PKHD1):c.3313del:p.Ser1105fs	coding	Pathogenic/Likely_pathogenic
6	52033122	T	TC	T52033127C	PKHD1	NM_138694.4(PKHD1):c.3271dup:p.Asp1091fs	coding	Pathogenic
6	52043127	GTC	G	T52043128A	PKHD1	NM_138694.4(PKHD1):c.2827_2828del:p.Asp943fs	coding	Pathogenic
6	52044985	GTAGCCAAC	T	G52044985T	PKHD1	NM_138694.4(PKHD1):c.2688_2696delinsA:p.Met896fs	coding	Pathogenic
6	52048588	A	AT	C52048590T	PKHD1	NM_138694.4(PKHD1):c.2310dup:p.Ser771fs	coding	Pathogenic
6	52050259	CC	A	C52050259A	PKHD1	NM_138694.4(PKHD1):c.2176_2177delinsT:p.Gly726fs	coding	Pathogenic
6	52056169	CCTTTAGCATTTTCTCTGTGTAGCAGGATACGGAAAACTATTGAGAAGCAAAAAGACAAGGAATATCAAGATGGAAGAGGTGTTCAAAAATAACTAGAATTTAGTTCGCCTTAGTAGTAGTTTTAAAAACATACCCTAACATTTTAAGAATTTCTTAAGACTACTTTCTTAAGTAGTAATTCCTTTAGATGTAATCTGAAGATTAGCATGGTTTTGGCTATGTTTGCATGTTTCTCACCTATGTCTTTGACCTTTTCCCACCGTGTGGCATGGGGAGTATAGGAGGGTGCTGCACTCTACCTAACAGCCCAGGAGGAATGCCTTTCCTTTCTATTGACACCCACCGAGCATCAACCTCCCAAGCACAGTGCAGTGCCAGTCCCTCAGCCACTCAGTGTCCAAATCCAGGTTTCATATTTTTTTTTTACTCTGTTATCACCTTGGAGAGGAAATGGGGATTGTTCTCATTTTATAGAAAGAAAGAAGACCATGATGAAAAAGACAATCAGAATGAAGCCACGGACAGCACCTCGTTCAAATCCAAGCCGGAGAAGGATGTTAGACCAAAGGGGTTCCAGTTTGCATTTTACTGCAAGTAACTCCTCAATGGTTGTTTGAATCTATTACAAAGGAAAAAAATGCCAGGAATTTATATCATGAGCATAAAGACCACCCCCAGTTCTCCCACTCCCCTCCCTCATTTTTTGAAGAAGTCTCCCACCAGATGGGCTGTGGCATTTGCAGGGATTGGCTGACTAGAGACATTGTCCCAAGTAAGGAAGAAGTTTCCTCTGCCTGATACATTCAGCACCTAAAAAAGTCAAGACAGACAAGACTAAATGATGGTGCTAATTAAGCCAGAGAGACAATCTAAGAACACAGGACATTCCTCCTCAACTTGCTATTTCCTTTTTATTATAATTTTAACTTTTCAATGCTTTAACATTCAGAAATCTCTGAGGAACACAGCATCATTGCCTAATGAGAACTTTTGTTGGACTAACAGAGATGTCAGTCTTCCTATTTATCTGTGCCCCTTGATTGAGAGTATGAGATGTAACAGTTGCCATTGAATGCTGCACTTTCAGCCCCTCTCACCAATTGCTTTCTCCCAAGGGTAGCCCAGCAGGCAGAAGCAGCTCCATGGCATGCACCCTCTCTTGGAGGCTTATGCAGTCTCTGCTTTGCTTCCAACACATCAACACATTCCCTGTAGGGCACATTATAGTTTTGCTACTGAGTAAGTTCTATGCAGCTTTTTTTTTTTTAGATGGAGTTTCACTCTGTCACCAGGCTGGAATGCTGTGGCGTGATGCCGGCTCACTGCAACCTCCGACTCCCTGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCAAGTAGCTGTGATTACAGGCACATGCCACCATGCCCAGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCATCATGTTGGCCAGGATGGTCTCGATCACTTGACCTTGTGATCAGCCCGCCTTGGCCTCCCAAAGTGCTGGGATTACATGCGTGAGCCACCACACCTGGCCAGCTTTTAATCTCTTAAATCAATTGTTACTTTCTACTTTGTTCTATGGTTATTTGTGCACATGTTTTACTTTTAGACTGTAAGCTTTAGAGGGCAGAGTTCATATTGATTTGTCTTTGTACACCAAAAAGTGAACAACAAAAACTATAACACATAAAAACTCTTCAAAGAAAATATGGGGCACAGCTGAGAGACCCAAAGGACATGACCTTTTCAAAGTAGACTTAGAAAACACAGGCTATAGGGAAATAGGACCTCAATCAGTCAAAAATTATGGAATTTAATGTGTATATGCTCACATGCATGCACGCATACATGTCGGGCGTGTGTTTAGAGGACCTTGTCTCTTTTCTGGGAAATAAGTTTCTAAAAGAAGACTTGCTTGGAACTTAAATTCCTAAAACTAACTCAATGAGTAAGATAATCTCAGGAATAAGACATCACATTTTTGTAAACATCTTCACAATGCTGTTAAAGAGATATCCTATTTCTTTGACAGCAAGGTTATAATGACCCCTCAGGTCGCCAGACTCCCAGTCAGTGCTCCTGCTACATGGGACTTTATTCCTTCCAGAGTTCAGCTCCATGGGACTGGAAAGAGACACAGACCTGTACTTCTGGAAGCCTCTGGGCTCGGACTCGGATCTGGTGCTTCTCCCGTAGGTAAGTGGTGACCACATCAGGATTCAGCCAGGTGTTGTGAATCTGGACACCAATCCTCATCCCCCTGCTTGGGGCTATCCCATGATGCTCTGCTTCCAGGTAGTACATGGCTCCACCCAACAGCTCCAACTTGGGAGTCTTCTGCTGCCAGGTCCCTTCATCCCTATTCTGCTCCCAGGAGTCAAACCAGTCAGCAGTGCCGACGCTGATGGAGGCCACTTTCACCTATGCCCAAATAAGCATATCATGATCAATACTATGCAGCTTCCAGGCATCTCTTTCTCAAACACTAAGTGTCTGAACTGCTACTATCAAGAGAGTTTTGAACTGGTCTGCCTTTTTAACATATTAACCCAGTTACCTCAGCCCTGTGGTTATTTATGCTTCTCCAGCTCTCTATCTATCTATCTATCTATCTATCTATCTATCTATCTCTTACAATTGAGTAGTACTCAAATGAGAATAGATGGGCCATGTTCAGAGAAGGAACAACCAACCTAAACCCTAGGATTACATGACACTATGGAGAAGGTAGTATTAAGCCCTTCAGAGACCTCGAATGACTTGATCACATCAAAATCTATGACATTTCTCCAATAAACTAGCAAATCAATTTCAGACATACATAGTAATAATTTGAGGAAAATATTGTGATTCTTTGTCAATAGCATAAGTGCATTTTGGCTGCTGTTAAAGGCATCTTTTCTTATCCTTCAATGTTGTTGAGGAATTCCTACATACAGCTGCCTACATCTCCACCCAAAATTAGTGGAAAAGGCACAAGTTTTGTAGTCAGGTAAATTTGGGGTTGAATCCTCAATGTGCCTTTTGCTATCCAAGTGGATTGGGCACACAATCTTTCTTTTTTTTCTTTTTCTTTTTCTTTTTTTTTTTTTTTTTTTTTTTTGAGACAAGGTCTCACTCTGTTGCCCAGACTGGAGTGCAGTGGCAGCCACGACTGCCCAAGGCTCAGGTGATCCTCCTGCCTCAGCCCCTCAAGTAGTTGGGACTATAGGCATGCGCCACCATGCCTGGCTAATTTTTGTATTTTTAATAGAGACAGGGTTTTATCATGTTGCCCAGGCTGGTCTCAAACTCCTGGGCTCAAGTGATCTGCCTGCCTCAGCCTCCCAAAGCACTAGGATTACAGGAATGAGCCACCACACCTGGCCCACACAATCTTTCCAAGCCTCAATTTCTTCATGTGGAAAAGATACATACATATATCTTTATGTATATATGTGTATATACACACAAACACATACATAATATATATACATATATACATACATACATACATTTTGCAGAGATGCAGTGAAAACTAGAGACAAGGTCTATAAAAGATGTAGCATAATATTTGGCTTACAGTAAATGCTCAATAAATAGTACGTTCACATTCAAACAAGTTCTTTTTCAACAATTAAAGTTCCTGATCATCCAATGGCATGTTAAA	C	T52056172A	PKHD1	NM_138694.4(PKHD1):c.1233+99_1694-441del	noncoding	Pathogenic
6	52056962	GC	G	C52056964T	PKHD1	NM_138694.4(PKHD1):c.1529del:p.Gly510fs	coding	Pathogenic
6	52062568	T	TA	G52062570A	PKHD1	NM_138694.4(PKHD1):c.1068dup:p.Asn357Ter	coding	Pathogenic
6	52064976	TC	T	C52064977A	PKHD1	NM_138694.4(PKHD1):c.954del:p.Arg319fs	coding	Pathogenic
6	52065000	TG	T	G52065002T	PKHD1	NM_138694.4(PKHD1):c.930del:p.Thr311fs	coding	Pathogenic
6	52066088	TAA	T	A52066101G	PKHD1	NM_138694.4(PKHD1):c.779-13_779-12del	noncoding	Benign
6	52069520	CCATT	C	C52069521G	PKHD1	NM_138694.4(PKHD1):c.711_714del:p.Met238fs	coding	Pathogenic
6	52073464	TA	T	A52073465T	PKHD1	NM_138694.4(PKHD1):c.525del:p.Asp175fs	coding	Pathogenic
6	52073547	TGAA	T	G52073554T	PKHD1	NM_138694.4(PKHD1):c.449-15TTC[2]	noncoding	Benign/Likely_benign
6	52079906	AG	A	G52079907T	PKHD1	NM_138694.4(PKHD1):c.383del:p.Thr128fs	coding	Pathogenic
6	52079936	AC	A	C52079937T	PKHD1	NM_138694.4(PKHD1):c.353del:p.Ser118fs	coding	Pathogenic/Likely_pathogenic
6	52082519	GGTAAAGAACACCCAACTCCA	CT	G52082519C	PKHD1	NM_138694.4(PKHD1):c.134_154delinsAG:p.Leu45_Pro52delinsTer	coding	Pathogenic
6	52479069	AT	A	T52479072G	EFHC1	NM_018100.4(EFHC1):c.1314del:p.Phe438fs	coding	Pathogenic
6	52494089	T	TCA	T52494091A	EFHC1	NM_018100.4(EFHC1):c.*1749_*1750insAC	noncoding	Benign
6	53013696	AGCAACGGGCTTG	A	A53013699T	CILK1	NM_016513.4(CILK1):c.1106_1117del:p.Pro369_Leu372del	coding	Benign
6	53016077	GA	G	A53016081C	CILK1	NM_016513.4(CILK1):c.831+5del	noncoding	Benign/Likely_benign
6	53544653	C	CCCT	G53544677T	GCLC	NM_001498.4(GCLC):c.-29_-27AGG[8]	noncoding	Benign
6	55759124	T	TACACAC	A55759146C	BMP5	NM_021073.4(BMP5):c.1105-29GT[13]	noncoding	Benign
6	56472211	G	GAT	A56472213T	DST	NM_015548.5(DST):c.14136_14137insAT:p.Pro4713fs	coding	Pathogenic
6	56476256	CT	C	T56476258C	DST	NM_015548.5(DST):c.13887del:p.Ala4630fs	coding	Pathogenic
6	56497896	G	GT	C56497903T	DST	NM_015548.5(DST):c.12184dup:p.Thr4062fs	coding	Pathogenic
6	56535204	AC	A	C56535206A	DST	NM_015548.5(DST):c.8989del:p.Val2997fs	coding	Pathogenic
6	56611578	A	AT	A56611580T	DST	NM_015548.5(DST):c.3465dup:p.Ser1156fs	coding	Pathogenic
6	56615254	T	TAA	C56615266A	DST	NM_015548.5(DST):c.3319-781_3319-780dup	coding	Benign
6	56615254	T	TA	C56615266A	DST	NM_015548.5(DST):c.3319-781dup	coding	Benign
6	56618753	AT	A	T56618758C	DST	NM_015548.5(DST):c.3319-4270del	coding	Pathogenic
6	56618856	C	CT	A56618860T	DST	NM_015548.5(DST):c.3319-4375dup	coding	Pathogenic
6	56619476	GTCTT	G	T56619480A	DST	NM_015548.5(DST):c.3319-4996_3319-4993del	coding	Pathogenic
6	56619844	G	GT	C56619851T	DST	NM_015548.5(DST):c.3318+4680dup	coding	Pathogenic
6	56620385	CCCGCT	C	G56620388A	DST	NM_015548.5(DST):c.3318+4140_3318+4144del	coding	Pathogenic
6	56620623	TG	T	G56620624T	DST	NM_015548.5(DST):c.3318+3906del	coding	Pathogenic
6	56631931	CA	C	A56631932G	DST	NM_015548.5(DST):c.2303del:p.Leu768fs	coding	Pathogenic
6	57194842	C	CA	G57194844A	RAB23	NM_016277.5(RAB23):c.408dup:p.Glu137Ter	coding	Pathogenic
6	57210294	A	AT	A57210296T	RAB23	NM_016277.5(RAB23):c.86dup:p.Tyr29Ter	coding	Pathogenic
6	57210363	CA	C	A57210364T	RAB23	NM_016277.5(RAB23):c.17del:p.Met6fs	coding	Pathogenic
6	57210375	CA	C	A57210377C	RAB23	NM_016277.5(RAB23):c.5del:p.Leu2fs	coding	Pathogenic
6	63720643	CTAATT	C	T63720649A	EYS	NM_001142800.2(EYS):c.9378_9382AATTA[1]:p.Lys3128fs	coding	Pathogenic
6	63720651	ATTAG	A	A63720654C	EYS	NM_001142800.2(EYS):c.9376_9379del:p.Ile3127fs	coding	Pathogenic
6	63720676	G	GA	T63720683A	EYS	NM_001142800.2(EYS):c.9354dup:p.Gln3119fs	coding	Pathogenic
6	63720694	TAATTTTGCCAACAAAATTGG	T	A63720695T	EYS	NM_001142800.2(EYS):c.9317_9336del:p.Thr3106fs	coding	Pathogenic/Likely_pathogenic
6	63720728	TTGAG	T	G63720730A	EYS	NM_001142800.2(EYS):c.9299_9302del:p.Thr3100fs	coding	Pathogenic/Likely_pathogenic
6	63720735	ACGATATTTAC	A	G63720737T	EYS	NM_001142800.2(EYS):c.9286_9295del:p.Val3096fs	coding	Pathogenic/Likely_pathogenic
6	63720763	A	AG	C63720765G	EYS	NM_001142800.2(EYS):c.9267dup:p.Phe3090fs	coding	Pathogenic
6	63720764	GC	G	C63720769T	EYS	NM_001142800.2(EYS):c.9266del:p.Gly3089fs	coding	Pathogenic
6	63720781	T	TGCCATCATAGTTTAGA	C63720802T	EYS	NM_001142800.2(EYS):c.9234_9249dup:p.Ile3084delinsSerLysLeuTer	coding	Pathogenic
6	63720798	GCCACAAAGTT	G	C63720799T	EYS	NM_001142800.2(EYS):c.9223_9232del:p.Asn3075fs	coding	Pathogenic
6	63720806	GT	G	T63720811A	EYS	NM_001142800.2(EYS):c.9224del:p.Asn3075fs	coding	Pathogenic
6	63720843	CTG	C	G63720845T	EYS	NM_001142800.2(EYS):c.9186_9187del:p.Asn3062fs	coding	Pathogenic/Likely_pathogenic
6	63720932	GC	G	C63720933T	EYS	NM_001142800.2(EYS):c.9098del:p.Ser3033fs	coding	Pathogenic
6	63720948	ATTCT	A	T63720953C	EYS	NM_001142800.2(EYS):c.9075_9078AGAA[1]:p.Arg3027fs	coding	Pathogenic/Likely_pathogenic
6	63720994	GA	G	A63720995C	EYS	NM_001142800.2(EYS):c.9036del:p.Leu3013fs	coding	Pathogenic
6	63721134	TTAATG	T	T63721138G	EYS	NM_001142800.2(EYS):c.8892_8896del:p.Tyr2964_Lys2966delinsTer	coding	Pathogenic
6	63721200	AC	A	C63721203A	EYS	NM_001142800.2(EYS):c.8830del:p.Val2944fs	coding	Pathogenic
6	63721234	ATGAT	A	A63721237G	EYS	NM_001142800.2(EYS):c.8793_8796del:p.Gln2931fs	coding	Pathogenic/Likely_pathogenic
6	63721375	TTCTGCATG	T	C63721377G	EYS	NM_001142800.2(EYS):c.8648_8655del:p.Thr2883fs	coding	Pathogenic/Likely_pathogenic
6	63721381	ATG	A	G63721385T	PHF3;EYS	NM_001142800.2(EYS):c.8648_8649del:p.Thr2883fs	coding	Pathogenic
6	63721432	CT	C	T63721436G	EYS	NM_001142800.2(EYS):c.8598del:p.Gly2867fs	coding	Pathogenic
6	63721466	ATTAT	A	T63721471G	EYS	NM_001142800.2(EYS):c.8557_8560ATAA[1]:p.Asn2854fs	coding	Pathogenic
6	63721606	AG	A	G63721608C	EYS	NM_001142800.2(EYS):c.8424del:p.Ser2809fs	coding	Pathogenic
6	63721619	T	TA	C63721621A	EYS	NM_001142800.2(EYS):c.8411dup:p.Thr2805fs	coding	Pathogenic/Likely_pathogenic
6	63721622	A	AT	A63721626T	EYS	NM_001142800.2(EYS):c.8408dup:p.Asn2803fs	coding	Pathogenic
6	63721716	GT	G	T63721719C	EYS	NM_001142800.2(EYS):c.8314del:p.Thr2772fs	coding	Pathogenic
6	63721770	TTTACTA	T	T63721771A	EYS	NM_001142800.2(EYS):c.8255_8260del:p.Leu2752_Asn2754delinsTyr	coding	Pathogenic
6	63721787	TA	T	A63721793T	EYS	NM_001142800.2(EYS):c.8243del:p.Leu2748fs	coding	Pathogenic
6	63726614	TGAAAG	T	A63726618G	EYS	NM_001142800.2(EYS):c.8133_8137del:p.Phe2712fs	coding	Pathogenic/Likely_pathogenic
6	63726646	AT	A	T63726648G	EYS	NM_001142800.2(EYS):c.8105del:p.Asn2702fs	coding	Pathogenic
6	63762487	C	CT	C63762488T	EYS	NM_001142800.2(EYS):c.8044_8045insA:p.Gly2682fs	coding	Pathogenic
6	63762588	TG	T	G63762589T	EYS	NM_001142800.2(EYS):c.7943del:p.Thr2648fs	coding	Pathogenic
6	63788173	AC	A	C63788174A	EYS	NM_001142800.2(EYS):c.7654del:p.Tyr2551_Val2552insTer	coding	Pathogenic
6	63789212	TCG	T	G63789214C	EYS	NM_001142800.2(EYS):c.7422_7423del:p.Gly2474_Asp2475insTer	coding	Pathogenic
6	63806208	T	TA	T63806215A	EYS	NM_001142800.2(EYS):c.7392dup:p.Thr2465fs	coding	Pathogenic/Likely_pathogenic
6	63984594	CAA	C	A63984597T	EYS	NM_001142800.2(EYS):c.6842_6843del:p.Tyr2280_Phe2281insTer	coding	Pathogenic
6	63999114	TG	T	G63999116A	EYS	NM_001142800.2(EYS):c.6794del:p.Pro2265fs	coding	Pathogenic
6	63999117	A	AG	T63999120G	EYS	NM_001142800.2(EYS):c.6791dup:p.Pro2265fs	coding	Pathogenic
6	64066348	TA	T	A64066349G	EYS	NM_001142800.2(EYS):c.6714del:p.Ile2239fs	coding	Pathogenic/Likely_pathogenic
6	64066468	GCTTT	G	T64066470C	EYS	NM_001142800.2(EYS):c.6591_6594del:p.Lys2198fs	coding	Pathogenic
6	64081879	CTGTT	C	G64081885T	EYS	NM_001142800.2(EYS):c.6540_6543AACA[1]:p.Asn2182fs	coding	Pathogenic
6	64081936	AC	A	C64081937A	EYS	NM_001142800.2(EYS):c.6490del:p.Val2164fs	coding	Pathogenic
6	64230639	A	AATGACACT	C64230651A	EYS	NM_001142800.2(EYS):c.6369_6376dup:p.Phe2126Ter	coding	Pathogenic
6	64230777	GAAGCATCAAC	G	G64230780A	EYS	NM_001142800.2(EYS):c.6229_6238del:p.Val2077fs	coding	Pathogenic/Likely_pathogenic
6	64306969	CCTGCAATTGTTAATGTGATAGTTTTTCACTGCCTTGGATGGAATGAAAGATCTCCAGTTATTTATTTCTATAACTTCTATGCAGCCAGTAAAATTCTTGACTGGTACAGGCAT	C	C64306973A	EYS	NM_001142800.2(EYS):c.6079_6191del:p.Met2027Ilefs	coding	Pathogenic
6	64306990	GT	G	T64306995C	EYS	NM_001142800.2(EYS):c.6170del:p.Asn2057fs	coding	Pathogenic
6	64307058	TA	T	A64307062T	EYS	NM_001142800.2(EYS):c.6102del:p.Phe2034fs	coding	Pathogenic
6	64307058	T	TA	T64307063A	EYS	NM_001142800.2(EYS):c.6102dup:p.Thr2035fs	coding	Pathogenic
6	64307084	TGAGAGA	T	G64307101A	EYS	NM_001142800.2(EYS):c.6079-24TC[8]	noncoding	Benign
6	64307084	TGA	T	G64307105A	EYS	NM_001142800.2(EYS):c.6079-24TC[10]	noncoding	Benign
6	64307084	T	TGA	A64307107G	EYS	NM_001142800.2(EYS):c.6079-24TC[12]	noncoding	Benign
6	64388806	TAGTC	T	T64388809C	EYS	NM_001142800.2(EYS):c.5958_5961del:p.Thr1987fs	coding	Pathogenic
6	64436184	G	GT	G64436186T	EYS	NM_001142800.2(EYS):c.5916dup:p.Leu1973fs	coding	Pathogenic
6	64439191	G	GA	T64439194A	EYS	NM_001142800.2(EYS):c.5805dup:p.Gln1936fs	coding	Pathogenic
6	64439194	T	TA	T64439201A	EYS	NM_001142800.2(EYS):c.5802dup:p.Ile1935fs	coding	Pathogenic
6	64439248	AG	A	G64439250A	EYS	NM_001142800.2(EYS):c.5748del:p.Tyr1917fs	coding	Pathogenic
6	64590576	A	AT	C64590580T	EYS	NM_001142800.2(EYS):c.5290dup:p.Ile1764fs	coding	Pathogenic
6	64590684	CT	C	T64590690C	EYS	NM_001142800.2(EYS):c.5182del:p.Ser1728fs	coding	Pathogenic
6	64590698	CAA	C	A64590699T	EYS	NM_001142800.2(EYS):c.5167_5168del:p.Leu1723fs	coding	Pathogenic
6	64590717	AG	A	G64590718T	EYS	NM_001142800.2(EYS):c.5149del:p.Val1716_Leu1717insTer	coding	Pathogenic
6	64590909	C	CT	G64590912T	EYS	NM_001142800.2(EYS):c.4957dup:p.Ser1653fs	coding	Pathogenic
6	64591034	AAATG	A	A64591039C	EYS	NM_001142800.2(EYS):c.4825_4828CATT[1]:p.Ser1610fs	coding	Pathogenic
6	64591250	TGTGA	T	G64591253C	EYS	NM_001142800.2(EYS):c.4613_4616del:p.Leu1538fs	coding	Pathogenic
6	64591255	GTC	G	C64591259G	EYS	NM_001142800.2(EYS):c.4608_4609GA[1]:p.Arg1537fs	coding	Pathogenic
6	64591505	GG	CT	G64591505C	EYS	NM_001142800.2(EYS):c.4361_4362delinsAG:p.Ser1454Ter	coding	Pathogenic
6	64591510	CAGCTATA	C	T64591514A	EYS	NM_001142800.2(EYS):c.4350_4356del:p.Ile1451fs	coding	Pathogenic
6	64591750	T	TGC	A64591751G	EYS	NM_001142800.2(EYS):c.4116_4117insGC:p.Ile1373fs	coding	Pathogenic
6	64591896	AG	A	G64591897T	EYS	NM_001142800.2(EYS):c.3970del:p.Leu1324fs	coding	Pathogenic
6	64591974	CCTGT	C	C64591979T	EYS	NM_001142800.2(EYS):c.3889_3892del:p.Thr1297fs	coding	Pathogenic
6	64593094	ATATCT	A	T64593097C	EYS	NM_001142800.2(EYS):c.3877+18_3877+22del	noncoding	Benign
6	64593294	GC	G	C64593297A	EYS	NM_001142800.2(EYS):c.3699del:p.Leu1234fs	coding	Pathogenic
6	64822661	GA	G	A64822662C	EYS	NM_001142800.2(EYS):c.3153del:p.Leu1052fs	coding	Pathogenic
6	64822810	TCA	T	C64822813G	EYS	NM_001142800.2(EYS):c.3001_3002TG[1]:p.Cys1001_Glu1002delinsTer	coding	Pathogenic
6	64886707	AG	A	G64886711C	EYS	NM_001142800.2(EYS):c.2981del:p.Pro994fs	coding	Pathogenic
6	64902131	CAT	C	A64902132G	EYS	NM_001142800.2(EYS):c.2826_2827del:p.Val944fs	coding	Pathogenic
6	64902134	GTTCCA	G	C64902137A	EYS	NM_001142800.2(EYS):c.2820_2824del:p.Gly941fs	coding	Pathogenic
6	64902415	GACCATATCTTCACAGTC	G	T64902422A	EYS	NM_001142800.2(EYS):c.2710_2726del:p.Asp904fs	coding	Pathogenic
6	64912704	AC	A	C64912705T	EYS	NM_001142800.2(EYS):c.2420del:p.Ser807fs	coding	Pathogenic
6	65057694	GCA	G	A65057698T	EYS	NM_001142800.2(EYS):c.2053_2054TG[1]:p.Ala686fs	coding	Pathogenic
6	65295847	G	GAA	C65295858A	EYS	NM_001142800.2(EYS):c.2023+6_2023+7dup	noncoding	Benign
6	65295847	G	GA	C65295858A	EYS	NM_001142800.2(EYS):c.2023+6dup	noncoding	Benign
6	65295924	A	AT	G65295930T	EYS	NM_001142800.2(EYS):c.1961dup:p.Asn654fs	coding	Pathogenic
6	65344052	C	CA	T65344054A	EYS	NM_001142800.2(EYS):c.1584dup:p.Glu529Ter	coding	Pathogenic
6	65344073	AATT	A	T65344079C	EYS	NM_001142800.2(EYS):c.1558_1560AAT[1]:p.Asn521del	coding	Pathogenic
6	65344137	A	AT	A65344139T	EYS	NM_001142800.2(EYS):c.1499dup:p.Tyr500Ter	coding	Pathogenic
6	65353588	A	AT	G65353595T	EYS	NM_001142800.2(EYS):c.1328dup:p.Asn443fs	coding	Pathogenic
6	65384450	CA	C	A65384451G	EYS	NM_001142800.2(EYS):c.1234del:p.Cys412fs	coding	Pathogenic
6	65384473	G	GT	C65384481T	EYS	NM_001142800.2(EYS):c.1211dup:p.Asn404fs	coding	Pathogenic
6	65402500	AT	A	T65402503C	EYS	NM_001142800.2(EYS):c.1161del:p.Lys387fs	coding	Pathogenic
6	65405238	GTT	G	T65405240C	EYS	NM_001142800.2(EYS):c.990_991del:p.Glu330fs	coding	Pathogenic
6	65405245	CA	C	A65405246T	EYS	NM_001142800.2(EYS):c.984del:p.Asn328fs	coding	Pathogenic
6	65405319	C	CA	G65405326A	EYS	NM_001142800.2(EYS):c.910dup:p.Trp304fs	coding	Pathogenic
6	65405340	GGTTTTGCTGACACCT	AGAAA	G65405340A	EYS	NM_001142800.2(EYS):c.875_890delinsTTTCT:p.Glu292fs	coding	Pathogenic
6	65405342	TTTTGCTGACACCT	AAA	T65405342A	EYS	NM_001142800.2(EYS):c.875_888delinsTTT:p.Glu292fs	coding	Pathogenic
6	65405370	TA	T	A65405377T	EYS	NM_001142800.2(EYS):c.863-4del	noncoding	Benign
6	65405370	T	TA	T65405378A	EYS	NM_001142800.2(EYS):c.863-10dup	noncoding	Benign
6	65494677	TGACA	T	G65494682C	EYS	NM_001142800.2(EYS):c.726_729TGTC[1]:p.Cys244fs	coding	Pathogenic
6	65494988	CAGCCACTTAGAATTAACAGT	AAAAG	C65494988A	EYS	NM_001142800.2(EYS):c.403_423delinsCTTTT:p.Thr135fs	coding	Pathogenic
6	65495049	TC	T	C65495051G	EYS	NM_001142800.2(EYS):c.361del:p.Glu121fs	coding	Pathogenic
6	65495178	CA	C	A65495181T	EYS	NM_001142800.2(EYS):c.232del:p.Cys78fs	coding	Pathogenic
6	65495231	CA	C	A65495236C	EYS	NM_001142800.2(EYS):c.179del:p.Leu60fs	coding	Pathogenic/Likely_pathogenic
6	65495343	G	GT	C65495349T	EYS	NM_001142800.2(EYS):c.67dup:p.Thr23fs	coding	Pathogenic
6	65495378	C	CA	G65495380A	EYS	NM_001142800.2(EYS):c.32dup:p.Met12fs	coding	Pathogenic
6	69701469	TC	T	C69701470A	LMBRD1	NM_018368.4(LMBRD1):c.1056del:p.Asn353fs	coding	Pathogenic
6	69741834	CTG	C	G69741836A	LMBRD1	NM_018368.4(LMBRD1):c.515_516del:p.Thr172fs	coding	Pathogenic
6	69752259	AG	A	G69752260T	LMBRD1	NM_018368.4(LMBRD1):c.404del:p.Thr135fs	coding	Pathogenic
6	70216654	C	CT	A70216668T	COL9A1	NM_001851.5(COL9A1):c.*242dup	noncoding	Benign
6	70302155	CCTAATTA	C	C70302156A	COL9A1	NM_001851.5(COL9A1):c.15-88_15-82del	noncoding	Benign
6	72392820	AT	A	T72392830C	RIMS1	NM_014989.5(RIMS1):c.4618+20del	noncoding	Benign
6	72402155	T	TA	T72402168A	RIMS1	NM_014989.5(RIMS1):c.*1453dup	noncoding	Benign
6	73363220	ACAAT	A	T73363224G	KHDC3L	NM_001017361.3(KHDC3L):c.299_302del:p.Ile100fs	coding	Pathogenic
6	73363244	GCTGA	G	G73363247A	KHDC3L	NM_001017361.3(KHDC3L):c.322_325del:p.Asp108fs	coding	Pathogenic
6	73461947	GC	G	C73461951G	MTO1	NM_012123.4(MTO1):c.97del:p.Arg33fs	coding	Pathogenic
6	73497800	TC	T	C73497801T	MTO1	NM_012123.4(MTO1):c.1822del:p.Leu608fs	coding	Pathogenic
6	73497836	C	CA	G73497838A	MTO1	NM_012123.4(MTO1):c.1858dup:p.Arg620fs	coding	Pathogenic
6	73610519	TAC	T	A73610520C	SLC17A5	NM_012434.5(SLC17A5):c.1138_1139del:p.Val380fs	coding	Pathogenic/Likely_pathogenic
6	73615417	CTA	C	T73615418A	SLC17A5	NM_012434.5(SLC17A5):c.1007_1008del:p.Leu336fs	coding	Pathogenic
6	73635384	GATTTCTTAATGATGA	G	T73635386A	SLC17A5	NM_012434.5(SLC17A5):c.802_816del:p.Ser268_Asn272del	coding	Pathogenic
6	73638491	TG	T	G73638492T	SLC17A5	NM_012434.5(SLC17A5):c.533del:p.Thr178fs	coding	Pathogenic
6	73641806	AT	A	T73641810C	SLC17A5	NM_012434.5(SLC17A5):c.409del:p.Met137fs	coding	Pathogenic/Likely_pathogenic
6	75113227	ATG	A	G75113229C	COL12A1	NM_004370.6(COL12A1):c.7925_7926del:p.Thr2642fs	coding	Pathogenic
6	75113758	CAAAAG	C	A75113762G	COL12A1	NM_004370.6(COL12A1):c.7698-19_7698-15del	noncoding	Benign
6	75117544	AC	A	C75117547T	COL12A1	NC_000006.12:g.75117547del	coding	Pathogenic
6	75143340	CT	C	T75143341G	COL12A1	NM_004370.6(COL12A1):c.4738del:p.Ser1580fs	coding	Pathogenic
6	75147677	G	GT	C75147684T	COL12A1	NM_004370.6(COL12A1):c.4414dup:p.Thr1472fs	coding	Pathogenic
6	75148467	AT	A	T75148468A	COL12A1	NM_004370.6(COL12A1):c.4177del:p.Ile1393fs	coding	Pathogenic
6	75148472	T	TA	G75148475A	COL12A1	NM_004370.6(COL12A1):c.4172dup:p.Leu1391fs	coding	Pathogenic
6	75151872	GC	G	C75151873A	COL12A1	NM_004370.6(COL12A1):c.3994del:p.Ala1332fs	coding	Pathogenic
6	75181148	CA	C	A75181149G	COL12A1	NM_004370.6(COL12A1):c.1954del:p.Trp652fs	coding	Pathogenic
6	75181216	TTAA	T	T75181217A	COL12A1	NM_004370.6(COL12A1):c.1892-8_1892-6del	noncoding	Benign
6	75183452	A	AT	C75183459T	COL12A1	NM_004370.6(COL12A1):c.1488dup:p.Phe497fs	coding	Pathogenic
6	75817582	C	CT	A75817584T	MYO6	NM_004999.4(MYO6):c.36dup:p.Thr13fs	coding	Pathogenic
6	75830495	CAT	C	A75830498C	MYO6	NM_004999.4(MYO6):c.342_343AT[1]:p.Tyr115fs	coding	Pathogenic
6	75841352	CATTTG	AA	C75841352A	MYO6	NM_004999.4(MYO6):c.790_795delinsAA:p.His264fs	coding	Pathogenic
6	75848543	A	AT	A75848551T	MYO6	NM_004999.4(MYO6):c.1078+19dup	noncoding	Benign/Likely_benign
6	75858966	A	AT	A75858973T	MYO6	NM_004999.4(MYO6):c.1452dup:p.Asn485Ter	coding	Pathogenic
6	75858993	GGT	C	G75858993C	MYO6	NM_004999.4(MYO6):c.1473_1473+2delinsC	coding	Pathogenic
6	75861098	ATG	A	G75861102T	MYO6	NM_004999.4(MYO6):c.1546+7_1546+8del	noncoding	Benign/Likely_benign
6	75890140	G	GA	C75890150A	MYO6	NM_004999.4(MYO6):c.2751dup:p.Gln918fs	coding	Pathogenic
6	75890208	GAA	G	A75890212G	MYO6	NM_004999.4(MYO6):c.2814_2815del:p.Arg939fs	coding	Pathogenic
6	75914918	GC	G	C75914919T	MYO6	NM_004999.4(MYO6):c.3765del:p.Cys1256fs	coding	Pathogenic
6	75917883	GT	G	T75917894A	MYO6	NM_004999.4(MYO6):c.*2882del	noncoding	Benign
6	76018866	TA	T	A76018880G	IMPG1	NM_001563.4(IMPG1):c.667-9del	noncoding	Benign
6	78946060	GA	G	A78946062G	PHIP	NM_017934.7(PHIP):c.4570del:p.Ser1524fs	coding	Pathogenic
6	78946134	TTC	T	C78946136G	PHIP	NM_017934.7(PHIP):c.4495_4496del:p.Glu1499fs	coding	Pathogenic
6	78947614	ATTAT	A	T78947615A	PHIP	NM_017934.7(PHIP):c.4206+5_4206+8del	noncoding	Benign
6	78954919	G	GT	A78954921T	PHIP	NM_017934.7(PHIP):c.3947dup:p.Tyr1316Ter	coding	Pathogenic/Likely_pathogenic
6	78961711	CTTTG	C	G78961715A	PHIP	NM_017934.7(PHIP):c.3631_3634del:p.Gln1211fs	coding	Pathogenic
6	78961750	AC	A	C78961751T	PHIP	NM_017934.7(PHIP):c.3595del:p.Thr1198_Val1199insTer	coding	Pathogenic
6	78969878	CA	C	A78969880G	PHIP	NM_017934.7(PHIP):c.3161del:p.Val1053_Leu1054insTer	coding	Pathogenic
6	78969898	C	TAT	C78969898T	PHIP	NM_017934.7(PHIP):c.3142delinsATA:p.Val1048fs	coding	Pathogenic
6	78982892	TTTTC	T	C78982900G	PHIP	NM_017934.7(PHIP):c.2755_2758GAAA[1]:p.Arg920fs	coding	Pathogenic
6	78982907	CTTCT	C	C78982910T	PHIP	NM_017934.7(PHIP):c.2744_2747del:p.Lys915fs	coding	Pathogenic
6	78990881	G	GTC	G78990882T	PHIP	NM_017934.7(PHIP):c.2305_2306insGA:p.Pro769fs	coding	Pathogenic
6	79015675	CAG	C	A79015678T	PHIP	NM_017934.7(PHIP):c.1340_1341CT[1]:p.Leu448fs	coding	Pathogenic
6	79015701	T	TA	C79015704A	PHIP	NM_017934.7(PHIP):c.1317dup:p.Ile440fs	coding	Pathogenic
6	79025518	CTTTAT	C	T79025523A	PHIP	NM_017934.7(PHIP):c.919_923del:p.Ile307fs	coding	Pathogenic/Likely_pathogenic
6	79042841	AC	A	C79042842A	PHIP	NM_017934.7(PHIP):c.600+1del	noncoding	Pathogenic
6	79042844	GT	A	G79042844A	PHIP	NM_017934.7(PHIP):c.598_599delinsT:p.Thr200fs	coding	Pathogenic/Likely_pathogenic
6	79042902	C	CT	A79042903T	PHIP	NM_017934.7(PHIP):c.540_541insA:p.Gly181fs	coding	Pathogenic
6	79060708	TAA	T	A79060710G	PHIP	NM_017934.7(PHIP):c.298_299del:p.Leu100fs	coding	Pathogenic
6	79487621	G	GT	A79487623T	LCA5	NM_001122769.3(LCA5):c.1476dup:p.Pro493fs	coding	Pathogenic
6	79487631	CA	C	A79487635C	LCA5	NM_001122769.3(LCA5):c.1466del:p.Leu489fs	coding	Pathogenic
6	79489141	AT	A	T79489146C	LCA5	NM_001122769.3(LCA5):c.1173del:p.Lys391fs	coding	Pathogenic
6	79489163	TG	T	G79489166T	LCA5	NM_001122769.3(LCA5):c.1151del:p.Pro384fs	coding	Pathogenic
6	79491617	TGTTTTCG	T	G79491618T	LCA5	NM_001122769.3(LCA5):c.1062_1068del:p.Cys353_Tyr354insTer	coding	Pathogenic
6	79493720	TAGTACTC	T	A79493724T	LCA5	NM_001122769.3(LCA5):c.744_750del:p.Ser249fs	coding	Pathogenic
6	79513292	GTCTAGCT	G	T79513295A	LCA5	NM_001122769.3(LCA5):c.633_639del:p.Glu211fs	coding	Pathogenic
6	79513395	T	TA	T79513396A	LCA5	NM_001122769.3(LCA5):c.536_537insT:p.Gln179fs	coding	Pathogenic
6	79513396	T	TA	G79513397A	LCA5	NM_001122769.3(LCA5):c.535_536insT:p.Gln179fs	coding	Pathogenic
6	79513402	TTTC	T	C79513405A	LCA5	NM_001122769.3(LCA5):c.527_529del:p.Arg176del	coding	Pathogenic
6	79513412	GTTCT	G	C79513415G	LCA5	NM_001122769.3(LCA5):c.516_519del:p.Lys172fs	coding	Pathogenic
6	79518745	A	AT	C79518752T	LCA5	NM_001122769.3(LCA5):c.149dup:p.Asn50fs	coding	Pathogenic
6	79518801	AC	A	C79518802T	LCA5	NM_001122769.3(LCA5):c.93del:p.Gln31fs	coding	Pathogenic
6	79518864	C	CA	G79518866A	LCA5	NM_001122769.3(LCA5):c.30dup:p.Asp11Ter	coding	Pathogenic
6	79536904	CCAGTCCCCCCAGTGCCGGTCAACCTCCCTTCCTCGGGACCCTCTCAGAAGCCGAGCTCTTTACTCATTTTCCTAGGTCTTCCTTCTCCTCGCGGTCCCTACATCCTCCCCCATCCCTAATCCCTTCATCTTCCCTGCTTTAAGAACCACCCGCAGGCCCCCATCCACGAACGCCCCTTCACTAGCTACCAGACGCTTCAACCCAGCCTCACCTCGCACCTCCACCTCCCCCGCCGTCTCCACGCCCACTTCAAAGCCCACCTCCAACCCGCAGGCTCTTCAGCAGAGCCGATGCGGCGTCCCGCCTCCTTGCCTTCCCTCTTAGGACCAAACTCCCAGCTGGGGCCTCGGCGTCTGACCGCCAAAGAGCGGGTGCCTGGTTCCTGCGGAGGCTGCCGGGCGGGTGCCGAGGTTGCCGAGATGCGGGAGGTTTGAACACAAGGATGGGACAGAGGCGAGGATCGGGGCTCCTGGGTGGCAGCGGCGGTAACCTGGGCTCCAGGGTAACGGAGGCGGAGGCCTAGACTGCACTACGAAGAGACCGCAGCCAATCATGATGACTCTACCCGAGCTCCCATTGGCTTCTGTCTCCAGACGGCCCTTTTTATTGGCTTCAGTGGAACTGGAAGGCGGGACGGCGAGTGCGGGAGAAGGTCTCCATTGGCCGACCGCTCTAGCTGTAGCGGAGACCCCCAAGTAGGGAAATTGGGGCAAAACGCGGAGCGCTCCAGGCTCCTACGGGCTGTGCGGTGCCAGGGCTCGACTGCTGAGCGTCGTGGGCTCCGAGAGGGACGCGGGCGGAGGGCAAAGTGGGTTCATGATATGAATTGTAAAATTGGCGACTGCGTAATGTAAAACACTTAACAATTGCTTAGATTTCCTTTGGGAAATAACTTGCTTTTAAATTGTAAACAAATTACAAACAAACTGCTAGTGCTTCTGGATCTTCTTACCGAAATGGCTGATTCAGGAGGATGCGGGGTGAGTGCACTATTGTTCCTGCCTCGAGATCCTGGCTGTGAATCACCAACGAGCCGTGAGTTTGGCTTGAAAGTGATTTTTAGGTTTTGGAACGGGTTTGGGGTGGAATGGCATCTGAAATATTTGCACACAAGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTAAGGAACGTTTTGAGGAGCATGTCAGCCTATTGAGCGCTGATGTGTGACATATTTTCTCTTTTAGAAATGGCATTAATTGCGGGAGACAGGGAAGGTAAAAAAAAATCCTCTTTCGTGAGGGCTTTAAACTGCTCCGAGCCATCTGATTATCAAGGTGGTTTAACACTACTCTGGTGTTCTCACTATTGTTAATTTCTCACTGGCCTTTTTACCACCATTCTGTAGAGAATCTAATATTTGAAGGCAAATGCGTTTAATGAATCTTCTAACCATGAAGATTGGTAATTCCTGCTTCTCGCTCAACCTCGTTTTTCCACCTTTGCACTGTTTCAAAGCTTTCATTTTATCCTGTCAATACATTTTACTTCAAGTTACAGACTAACCCACCCAAACAATATTGTGATTAAATGTAATTTTCTGTATGCGAAATACATCTGTACAAGATGG	C	C79536910A	LCA5	NM_181714.4(LCA5):c.0_-298+211del	noncoding	Pathogenic
6	79915812	CAT	C	A79915813G	ELOVL4	NM_022726.4(ELOVL4):c.*794_*795del	noncoding	Benign
6	79916758	GAAGTT	G	T79916762A	ELOVL4	NM_022726.4(ELOVL4):c.790_794del:p.Asn264fs	coding	Pathogenic
6	79916760	AGTTA	GTT	A79916760G	ELOVL4	NM_022726.4(ELOVL4):c.789_793delinsAAC:p.Asn264fs	coding	Pathogenic
6	79916862	CA	C	A79916864T	ELOVL4	NM_022726.4(ELOVL4):c.690del:p.Ile230fs	coding	Pathogenic
6	80106626	CGGGTGCTCCGCCCTCCCCGCAGGCGGCGTGCGGCTGCATAGCCTGAGAATCCCGGTGGTGAGCGGGGATGGCGGTTGTAGCGGCGGCTGCCGGCTGGCTACTCAGGCTCAGGGCGGCAGGGGCTGAGGGGCACTGGCGTCGGCTTCCTGGCGCGGGGCTGGCGCGGGGCTTTTTGCACCCCGCCGCGACTGTCGAGGATGCGGCCCAGAGGCGGCAGGTGGCTCATTTTACTTTCCAGCCAGATCCGGAGCCCCGGGAGTACG	C	G80106628T	BCKDHB	NM_000056.4(BCKDHB):c.-66_196+1del	noncoding	Pathogenic
6	80106743	C	CAGGGGCTG	A80106758T	BCKDHB	NM_183050.4(BCKDHB):c.57_64dup:p.His22fs	coding	Pathogenic
6	80106763	C	CTTCCTGGCAGGGGCTGAGGA	G80106764T	BCKDHB	NM_183050.4(BCKDHB):c.70_71insTTCCTGGCAGGGGCTGAGGA:p.Arg24delinsLeuProGlyArgGlyTer	coding	Pathogenic
6	80106771	TCCTGGCGCGGG	T	C80106772G	BCKDHB	NM_183050.4(BCKDHB):c.79_89del:p.Pro27fs	coding	Pathogenic/Likely_pathogenic
6	80106772	C	CCTGGCGCGGGG	T80106797G	BCKDHB	NM_183050.4(BCKDHB):c.82_92GGCGCGGGGCT[3]:p.Phe35fs	coding	Pathogenic/Likely_pathogenic
6	80106772	CCTGGCGCGGGG	C	G80106786T	BCKDHB	NM_183050.4(BCKDHB):c.82_92GGCGCGGGGCT[1]:p.Ala32fs	coding	Pathogenic
6	80106795	C	CT	G80106801T	BCKDHB	NM_183050.4(BCKDHB):c.107dup:p.Leu36fs	coding	Pathogenic
6	80106844	GT	G	T80106845G	BCKDHB	NM_183050.4(BCKDHB):c.152del:p.Val51fs	coding	Pathogenic
6	80127535	TG	T	G80127536A	BCKDHB	NM_183050.4(BCKDHB):c.197-11del	noncoding	Benign
6	80167678	GA	G	A80167682G	BCKDHB	NM_183050.4(BCKDHB):c.348del:p.Asp117fs	coding	Pathogenic
6	80168979	C	CT	A80168981T	BCKDHB	NM_183050.4(BCKDHB):c.583dup:p.Tyr195fs	coding	Pathogenic
6	80168988	TCA	T	C80168989G	BCKDHB	NM_183050.4(BCKDHB):c.592_593del:p.Gln198fs	coding	Pathogenic
6	80168989	CAG	C	A80168992T	BCKDHB	NM_183050.4(BCKDHB):c.593_594AG[1]:p.Ser199_Pro200insTer	coding	Pathogenic
6	80169003	AT	A	T80169009G	BCKDHB	NM_183050.4(BCKDHB):c.612del:p.Phe204fs	coding	Pathogenic
6	80171356	A	AT	G80171363T	BCKDHB	NM_183050.4(BCKDHB):c.714dup:p.Glu239Ter	coding	Pathogenic
6	80200964	TC	T	C80200967A	BCKDHB	NM_183050.4(BCKDHB):c.776del:p.Pro259fs	coding	Pathogenic
6	80203168	G	GA	T80203170A	BCKDHB	NM_183050.4(BCKDHB):c.908dup:p.Asp303fs	coding	Pathogenic
6	80343689	CT	C	T80343690C	BCKDHB	NM_183050.4(BCKDHB):c.1065del:p.Pro356fs	coding	Pathogenic
6	81750410	G	GAT	A81750416T	TENT5A	NM_017633.3(TENT5A):c.610_611AT[3]:p.Ser205fs	coding	Pathogenic
6	81752010	ACCGCCGAAGTCGCCG	A	G81752058T	TENT5A	NM_017633.3(TENT5A):c.72_86CGGCGACTTCGGCGG[3]:p.26_30DFGGG[3]	coding	Benign
6	83171943	TTTAAG	T	A83171946G	PGM3	NM_015599.3(PGM3):c.1354_1358del:p.Leu452fs	coding	Pathogenic
6	83178679	AACT	A	A83178680T	PGM3	NM_015599.3(PGM3):c.1020_1022del:p.Glu340_Val341delinsAsp	coding	Pathogenic
6	83178680	ACTT	A	T83178685A	PGM3	NM_015599.3(PGM3):c.1016_1018AAG[1]:p.Glu340del	coding	Pathogenic
6	83181785	A	AT	G83181788T	PGM3	NM_015599.3(PGM3):c.737dup:p.Asn246fs	coding	Pathogenic
6	83187051	TTGTGAAAGTTTCTCAC	T	T83187054C	PGM3	NM_015599.3(PGM3):c.398_413del:p.Ser133fs	coding	Pathogenic
6	83188633	C	CT	A83188635T	PGM3	NM_015599.3(PGM3):c.369dup:p.Val124fs	coding	Pathogenic
6	84738585	AC	A	C84738588A	TBX18	NM_001080508.3(TBX18):c.1010del:p.Gly337fs	coding	Pathogenic
6	84763926	C	CCGGCCCAGACGT	C84763941G	TBX18	NM_001080508.3(TBX18):c.244_255dup:p.Thr82_Pro85dup	coding	Benign
6	85493884	G	GA	G85493888A	NT5E	NM_002526.4(NT5E):c.1608dup:p.Val537fs	coding	Pathogenic
6	85507264	ACAATGTC	A	G85507269A	SNX14	NM_153816.6(SNX14):c.2764_2770del:p.Leu921_Asp922insTer	coding	Pathogenic
6	85508042	TA	T	A85508043C	SNX14	NM_153816.6(SNX14):c.2670del:p.Lys889_Cys890insTer	coding	Pathogenic
6	85533683	C	CA	G85533690A	SNX14	NM_153816.6(SNX14):c.1725dup:p.Glu576Ter	coding	Pathogenic
6	85533701	G	GAAAAAAAAAAA	T85533704A	SNX14	NM_153816.6(SNX14):c.1707_1708insTTTTTTTTTTT:p.Pro570fs	coding	Pathogenic
6	85547557	GA	G	A85547561T	SNX14	NM_153816.6(SNX14):c.868-8del	noncoding	Benign
6	85549868	C	CT	G85549870T	SNX14	NM_153816.6(SNX14):c.645dup:p.Glu216fs	coding	Pathogenic
6	87218625	CA	C	A87218626G	ZNF292	NM_015021.3(ZNF292):c.433del:p.Ser145fs	coding	Pathogenic
6	87256691	TAGAA	T	A87256695C	ZNF292	NM_015021.3(ZNF292):c.3066_3069del:p.Glu1022fs	coding	Pathogenic
6	87257352	AC	A	C87257353A	ZNF292	NM_015021.3(ZNF292):c.3724del:p.Gln1242fs	coding	Pathogenic
6	87284268	T	TA	T87284272A	GJB7	NM_198568.3(GJB7):c.644dup:p.Leu215fs	coding	Benign
6	87512045	C	CTGAA	T87512048A	SLC35A1;RARS2	NM_006416.5(SLC35A1):c.*521_*522insAATG	noncoding	Benign
6	87514994	GT	G	T87514998G	RARS2	NM_020320.5(RARS2):c.1612del:p.Thr538fs	coding	Pathogenic
6	87516808	T	TAA	G87516812A	RARS2	NM_020320.5(RARS2):c.1582_1583dup:p.Leu528fs	coding	Pathogenic
6	87518198	CTG	C	T87518201G	RARS2	NM_020320.5(RARS2):c.1480_1481del:p.Gln494fs	coding	Pathogenic
6	87518248	CAA	C	A87518251G	RARS2	NM_020320.5(RARS2):c.1430_1431del:p.Phe477fs	coding	Pathogenic
6	87518657	AG	A	G87518659A	RARS2	NM_020320.5(RARS2):c.1387del:p.Leu463fs	coding	Pathogenic
6	87519676	C	AAT	C87519676A	RARS2	NM_020320.5(RARS2):c.1144delinsATT:p.Gly382fs	coding	Pathogenic
6	87524566	TAG	T	G87524572A	RARS2	NM_020320.5(RARS2):c.959_960CT[2]:p.Tyr322fs	coding	Pathogenic
6	87524632	T	TC	T87524634C	RARS2	NM_020320.5(RARS2):c.898dup:p.Asp300fs	coding	Pathogenic
6	87530918	CTTCT	C	C87530921A	RARS2	NM_020320.5(RARS2):c.633_636del:p.Glu212fs	coding	Pathogenic
6	87535052	T	TTCTTA	A87535055T	RARS2	NM_020320.5(RARS2):c.613-4111_613-4110insGATAA	noncoding	Benign
6	87545647	TATTC	T	A87545648T	RARS2	NM_020320.5(RARS2):c.500_503del:p.Arg167fs	coding	Pathogenic
6	87545673	CTTCT	C	C87545676G	RARS2	NM_020320.5(RARS2):c.474_477del:p.Glu159fs	coding	Pathogenic
6	87545781	A	AG	C87545782G	RARS2	NM_020320.5(RARS2):c.452-83_452-82insC	noncoding	Benign
6	87562764	TCA	T	A87562766C	RARS2	NM_020320.5(RARS2):c.233_234del:p.Val78fs	coding	Pathogenic
6	87564181	ATT	A	T87564182G	RARS2	NM_020320.5(RARS2):c.160_161del:p.Asp53_Asn54insTer	coding	Pathogenic
6	87569584	TG	T	G87569586A	RARS2	NM_020320.5(RARS2):c.42del:p.Arg15fs	coding	Pathogenic/Likely_pathogenic
6	90544640	AAC	A	C90544644T	MAP3K7	NM_145331.3(MAP3K7):c.1211-10_1211-9del	noncoding	Benign
6	90553590	G	GA	G90553601A	MAP3K7	NM_145331.3(MAP3K7):c.608-14dup	noncoding	Benign
6	90556630	T	TAA	C90556640A	MAP3K7	NM_145331.3(MAP3K7):c.483-15_483-14dup	noncoding	Benign
6	90571777	AAAC	A	A90571781T	MAP3K7	NM_145331.3(MAP3K7):c.145_147GTT[1]:p.Val50del	coding	Pathogenic
6	90571792	CTCCTCT	C	T90571796A	MAP3K7	NM_145331.3(MAP3K7):c.130_135del:p.Arg44_Gly45del	coding	Pathogenic
6	96891399	C	CAA	G96891410A	NDUFAF4	NM_014165.3(NDUFAF4):c.241-10_241-9dup	noncoding	Benign
6	96891399	C	CA	G96891410A	NDUFAF4	NM_014165.4(NDUFAF4):c.241-18dup	noncoding	Benign/Likely_benign
6	98875123	C	CT	G98875124T	FBXL4	NM_001278716.2(FBXL4):c.1702+291_1702+292insA	noncoding	Benign
6	98875467	GTC	G	C98875469G	FBXL4	NM_001278716.2(FBXL4):c.1648_1649del:p.Asp550fs	coding	Pathogenic
6	98875474	TCA	T	C98875481G	FBXL4	NM_001278716.2(FBXL4):c.1635_1636TG[3]:p.Cys547_Asp548delinsTer	coding	Pathogenic
6	98880546	CACTT	C	T98880549C	FBXL4	NM_001278716.2(FBXL4):c.1389+3_1389+6del	noncoding	Pathogenic
6	98905395	GA	G	A98905402C	FBXL4	NM_001278716.2(FBXL4):c.1103+30del	noncoding	Benign
6	98905461	GC	G	C98905463A	FBXL4	NM_001278716.2(FBXL4):c.1067del:p.Gly356fs	coding	Pathogenic
6	98917404	AT	A	T98917407G	FBXL4	NM_001278716.2(FBXL4):c.827del:p.Asn276fs	coding	Pathogenic
6	98917598	AACTATTT	A	A98917602T	FBXL4	NM_001278716.2(FBXL4):c.627_633del:p.Asn210fs	coding	Pathogenic
6	98917610	C	CCAGT	G98917616A	FBXL4	NM_001278716.2(FBXL4):c.618_621dup:p.Glu208fs	coding	Pathogenic
6	98926662	AC	A	C98926663T	FBXL4	NM_001278716.2(FBXL4):c.326del:p.Ser109fs	coding	Pathogenic
6	98926711	TGAGTA	T	G98926712A	FBXL4	NM_001278716.2(FBXL4):c.273_277del:p.Phe91fs	coding	Pathogenic
6	100767347	TA	T	A100767357G	ASCC3	NM_006828.4(ASCC3):c.1396-3del	noncoding	Benign
6	101682535	AT	A	T101682546C	GRIK2	NM_021956.4(GRIK2):c.724-7del	noncoding	Benign
6	104744180	GAGA	G	G104744185C	HACE1	NM_020771.4(HACE1):c.2487_2489TCT[1]:p.Leu832del	coding	Pathogenic
6	104771384	G	GAATACCTAAAAATACCTAAA	A104771397T	HACE1	NM_020771.3(HACE1):c.2019_2020insTTTAGGTATTTTTAGGTATT:p.Pro674Phefs	coding	Pathogenic
6	104776751	CTG	C	T104776752G	HACE1	NM_020771.4(HACE1):c.1852_1853del:p.Gln618fs	coding	Pathogenic
6	106619234	AC	A	C106619236A	RTN4IP1	NM_032730.5(RTN4IP1):c.587del:p.Gly196fs	coding	Pathogenic
6	106622978	TAC	T	C106622980A	RTN4IP1	NM_032730.5(RTN4IP1):c.275-11_275-10del	noncoding	Benign
6	106628969	CA	C	A106628972C	RTN4IP1	NM_032730.5(RTN4IP1):c.52del:p.Cys18fs	coding	Pathogenic
6	106652238	CCAGAAATCC	ACAAAAATCA	C106652238A	QRSL1	NM_018292.5(QRSL1):c.587_596delinsACAAAAATCA:p.Thr196_Pro199delinsAsnLysAsnHis	coding	Pathogenic
6	106663098	GC	TT	G106663098T	QRSL1	NM_018292.5(QRSL1):c.1279_1280delinsTT:p.Ala427Leu	coding	Pathogenic
6	107634729	A	AGCCCCCCGG	G107634750C	SOBP	NM_018013.4(SOBP):c.1888_1896CCCCCGGGC[3]:p.630_632PPG[3]	coding	Benign
6	107635075	A	AGCC	C107635097G	SOBP	NM_018013.4(SOBP):c.2232_2234GCC[8]:p.Pro751dup	coding	Benign
6	107635075	AGCC	A	G107635094C	SOBP	NM_018013.4(SOBP):c.2232_2234GCC[6]:p.Pro751del	coding	Benign/Likely_benign
6	107867744	G	GA	T107867756A	SEC63	NM_007214.4(SEC63):c.*3959dupT	noncoding	Benign
6	107868129	T	TGTC	T107868132C	SEC63	NM_007214.5(SEC63):c.*3574_*3575insGAC	noncoding	Benign
6	107868223	TA	T	A107868236C	SEC63	NM_007214.5(SEC63):c.*3480del	noncoding	Benign
6	107869199	T	TA	T107869210A	SEC63	NM_007214.5(SEC63):c.*2504dup	noncoding	Benign
6	107869772	GTTTTTT	G	T107869789A	SEC63	NM_007214.5(SEC63):c.*1926_*1931del	noncoding	Benign
6	107869910	AAAAC	A	A107869913C	SEC63	NM_007214.5(SEC63):c.*1790_*1793del	noncoding	Benign
6	107876670	CAAA	C	A107876687G	SEC63	NM_007214.5(SEC63):c.1936-11_1936-9del	noncoding	Benign
6	107893550	G	GT	A107893561T	SEC63	NM_007214.5(SEC63):c.1605dup:p.Pro536fs	coding	Pathogenic
6	107921806	G	GT	C107921807T	SEC63	NM_007214.5(SEC63):c.442_443insA:p.Ala148fs	coding	Pathogenic
6	107921911	T	TGGG	A107921916G	SEC63	NM_007214.5(SEC63):c.340-6_340-4dup	noncoding	Benign
6	107921915	GAAA	G	A107921918C	SEC63	NM_007214.5(SEC63):c.340-9_340-7del	noncoding	Benign
6	107921916	AAAAAC	A	C107921921A	SEC63	NM_007214.5(SEC63):c.340-12_340-8del	noncoding	Benign
6	107921916	AAAAAC	GGG	A107921916G	SEC63	NM_007214.5(SEC63):c.340-12_340-7delinsCCC	noncoding	Benign/Likely_benign
6	107921916	AAAAAC	GGGG	A107921916G	SEC63	NM_007214.5(SEC63):c.340-12_340-7delinsCCCC	noncoding	Benign/Likely_benign
6	107921917	AAAAC	A	C107921921A	SEC63	NM_007214.5(SEC63):c.340-12_340-9del	noncoding	Benign
6	107921918	AAAC	A	C107921921A	SEC63	NM_007214.5(SEC63):c.340-12_340-10del	noncoding	Benign
6	107921919	AAC	A	C107921921A	SEC63	NM_007214.5(SEC63):c.340-12_340-11del	noncoding	Benign/Likely_benign
6	107921920	AC	A	C107921921A	SEC63	NM_007214.5(SEC63):c.340-12del	noncoding	Benign
6	107929418	AC	A	C107929419T	SEC63	NM_007214.5(SEC63):c.220del:p.Thr73_Val74insTer	coding	Pathogenic
6	107957900	CG	C	G107957904C	SEC63	NM_007214.5(SEC63):c.109del:p.Arg37fs	coding	Pathogenic
6	108043343	CT	C	T108043347G	OSTM1	NM_014028.4(OSTM1):c.*1441del	noncoding	Benign
6	108064215	TA	T	A108064221T	OSTM1	NM_014028.4(OSTM1):c.486del:p.Phe162fs	coding	Pathogenic
6	108064285	ACT	A	C108064290G	OSTM1	NM_014028.4(OSTM1):c.411_412AG[2]:p.Gln140fs	coding	Pathogenic
6	108912488	TAAAAC	T	A108912492T	ARMC2	NM_032131.6(ARMC2):c.1284_1288del:p.Lys428fs	coding	Pathogenic
6	108965045	CTT	C	T108965047A	ARMC2	NM_032131.6(ARMC2):c.2353_2354del:p.Leu785fs	coding	Pathogenic
6	109447382	AG	A	G109447386T	MICAL1	NM_022765.4(MICAL1):c.2044del:p.Pro681_Leu682insTer	coding	Benign
6	109466451	CTG	C	G109466453A	ZBTB24	NM_014797.2(ZBTB24):c.1492_1493del:p.Gln498fs	coding	Pathogenic
6	109481010	CTAT	C	T109481017C	ZBTB24	NM_014797.3(ZBTB24):c.952+56ATA[2]	coding	Benign
6	109481138	T	TA	C109481140A	ZBTB24	NM_014797.3(ZBTB24):c.888dup:p.Lys297Ter	coding	Pathogenic
6	109481629	CTA	C	A109481631G	ZBTB24	NM_014797.2(ZBTB24):c.396_397del:p.His132fs	coding	Pathogenic
6	109573596	T	TA	T109573604A	AK9	NM_001145128.2(AK9):c.2192-9dup	noncoding	Benign
6	109727109	GT	G	T109727113G	FIG4	NM_014845.5(FIG4):c.294del:p.Phe98fs	coding	Pathogenic
6	109727286	C	CT	G109727298T	FIG4	NM_014845.6(FIG4):c.446+32dup	noncoding	Benign
6	109732617	C	CT	G109732621T	FIG4	NM_014845.6(FIG4):c.447-17dup	noncoding	Benign
6	109732621	G	GT	A109732635T	FIG4	NM_014845.6(FIG4):c.447-3dup	noncoding	Benign
6	109732621	G	GTT	A109732635T	FIG4	NM_014845.6(FIG4):c.447-4_447-3dup	noncoding	Benign
6	109732675	AT	A	T109732680A	FIG4	NM_014845.6(FIG4):c.490del:p.Tyr164fs	coding	Pathogenic
6	109738392	TA	T	A109738396G	FIG4	NM_014845.6(FIG4):c.718del:p.Ser240fs	coding	Pathogenic
6	109738434	TG	T	G109738437T	FIG4	NM_014845.5(FIG4):c.759del:p.Phe254fs	coding	Pathogenic
6	109741497	AGTAAATTT	A	T109741499C	FIG4	NM_014845.5(FIG4):c.831_838del:p.Lys278fs	coding	Pathogenic
6	109760258	GA	G	A109760262G	FIG4	NM_014845.6(FIG4):c.1150del:p.Arg384fs	coding	Pathogenic
6	109760315	CA	C	A109760317C	FIG4	NM_014845.5(FIG4):c.1205del:p.Asn402fs	coding	Pathogenic
6	109760371	AGT	A	G109760372A	FIG4	NM_014845.5(FIG4):c.1260_1261del:p.Thr422fs	coding	Pathogenic
6	109762188	A	AT	G109762193T	FIG4	NM_014845.5(FIG4):c.1373dup:p.Leu458fs	coding	Pathogenic
6	109766807	G	GA	C109766812A	FIG4	NM_014845.5(FIG4):c.1666dup:p.Thr556fs	coding	Pathogenic/Likely_pathogenic
6	109766894	AG	A	G109766896T	FIG4	NM_014845.6(FIG4):c.1750+1del	coding	Pathogenic
6	109776971	CA	C	A109776972C	FIG4	NM_014845.6(FIG4):c.1801del:p.Thr601fs	coding	Pathogenic
6	109786417	T	TA	C109786419A	FIG4	NM_014845.6(FIG4):c.2065dup:p.Thr689fs	coding	Pathogenic
6	109789654	T	TA	G109789655A	FIG4	NM_014845.6(FIG4):c.2157_2158insA:p.Glu720fs	coding	Pathogenic
6	109791379	C	CA	G109791384A	FIG4	NM_014845.6(FIG4):c.2188dup:p.Ser730fs	coding	Pathogenic
6	109791436	G	GC	A109791443C	FIG4	NM_014845.6(FIG4):c.2247dup:p.Ser750fs	coding	Pathogenic
6	109791477	ACT	A	C109791480G	FIG4	NM_014845.5(FIG4):c.2283_2284CT[1]:p.Ser762fs	coding	Pathogenic
6	109791491	C	CG	A109791495G	FIG4	NM_014845.6(FIG4):c.2299dup:p.Glu767fs	coding	Pathogenic
6	109792562	T	TC	T109792563C	FIG4	NM_014845.6(FIG4):c.2377-20_2377-19insC	noncoding	Benign
6	109792632	CCT	C	T109792636A	FIG4	NM_014845.6(FIG4):c.2429_2430TC[1]:p.Ser811fs	coding	Pathogenic
6	110101628	G	CCTGGC	G110101628C	WASF1	NM_003931.3(WASF1):c.1482delinsGCCAGG:p.Ile494fs	coding	Pathogenic
6	111344045	T	TA	G111344055A	REV3L	NM_001372078.1(REV3L):c.7420-11dup	noncoding	Benign
6	111363982	T	TA	C111363992A	REV3L	NM_001372078.1(REV3L):c.6754-13dup	noncoding	Benign
6	111567696	CA	C	A111567705G	TRAF3IP2	NM_147686.4(TRAF3IP2):c.1291-5del	noncoding	Benign
6	111591982	A	AGGT	T111591989G	TRAF3IP2	NM_147686.4(TRAF3IP2):c.99_101ACC[3]:p.Pro35dup	coding	Benign
6	112054399	GGC	G	G112054400A	CCN6	NM_198239.2(CCN6):c.43_44del:p.Ala15fs	coding	Pathogenic
6	112054406	G	GT	A112054408T	CCN6	NM_003880.3(CCN6):c.48+2dup	noncoding	Pathogenic
6	112061187	CA	C	A112061188G	CCN6	NM_198239.2(CCN6):c.246del:p.Glu84fs	coding	Pathogenic
6	112064942	CTG	C	G112064944A	CCN6	NM_198239.2(CCN6):c.536_537del:p.Asn178_Cys179insTer	coding	Pathogenic
6	112068306	GT	G	T112068307G	CCN6	NM_198239.2(CCN6):c.692del:p.Val231fs	coding	Pathogenic
6	112068321	AG	A	G112068322C	CCN6	NM_198239.2(CCN6):c.707del:p.Ser236fs	coding	Pathogenic
6	112068351	CTG	C	G112068355T	CCN6	NM_198239.2(CCN6):c.738_739GT[1]:p.Cys247fs	coding	Pathogenic/Likely_pathogenic
6	112069349	G	GA	C112069355A	CCN6	NM_198239.2(CCN6):c.799dup:p.Thr267fs	coding	Pathogenic
6	112069392	AT	A	T112069395G	CCN6	NM_198239.2(CCN6):c.840del:p.Phe280fs	coding	Pathogenic
6	112069416	T	TAC	T112069419A	CCN6	NM_198239.2(CCN6):c.862_863dup:p.Gln289fs	coding	Pathogenic
6	112069420	CAG	C	A112069423T	CCN6	NM_198239.2(CCN6):c.866_867AG[1]:p.Ser290fs	coding	Pathogenic
6	112069431	A	AC	A112069435C	CCN6	NM_198239.2(CCN6):c.879dup:p.Thr294fs	coding	Pathogenic
6	112114241	G	GAAT	T112114245A	LAMA4	NM_001105206.3(LAMA4):c.5207-49_5207-47dup	noncoding	Benign
6	112114865	CAT	C	A112114866G	LAMA4	NM_001105206.3(LAMA4):c.5113-111_5113-110del	noncoding	Benign
6	112117709	GA	G	A112117710C	LAMA4	NM_001105206.3(LAMA4):c.4981+29del	noncoding	Benign
6	112120551	GT	G	T112120552A	LAMA4	NM_001105206.3(LAMA4):c.4476-80del	noncoding	Benign
6	112134921	CAGGT	C	A112134922G	LAMA4	NM_001105206.3(LAMA4):c.3415-316_3415-313del	noncoding	Benign
6	112142492	C	CA	G112142502A	LAMA4	NM_001105206.3(LAMA4):c.2494-209dup	noncoding	Benign
6	112158886	GA	G	A112158893T	LAMA4	NM_001105206.3(LAMA4):c.1669-7del	noncoding	Benign/Likely_benign
6	112159164	CAT	C	A112159165G	LAMA4	NM_001105206.3(LAMA4):c.1669-286_1669-285del	noncoding	Benign
6	112187567	GT	TG	G112187567T	LAMA4	NM_001105206.3(LAMA4):c.848_849delinsCA:p.Asp283Ala	coding	Benign
6	113860125	G	GTGAGGC	G113860138T	MARCKS	NM_002356.7(MARCKS):c.546_551TGAGGC[3]:p.183_184EA[3]	coding	Benign
6	116120066	T	TGGG	T116120068G	COL10A1	NM_000493.4(COL10A1):c.*6_*7insCCC	coding	Benign
6	116120201	TC	T	C116120204T	COL10A1	NM_000493.4(COL10A1):c.1914del:p.Ser639fs	coding	Pathogenic
6	116120256	AGG	A	G116120259T	COL10A1	NM_000493.4(COL10A1):c.1858_1859del:p.Pro620fs	coding	Pathogenic
6	116279104	TCA	T	C116279107G	TSPYL1	NM_003309.4(TSPYL1):c.723_724TG[1]:p.Val242fs	coding	Pathogenic
6	116399636	AC	A	C116399637A	DSE	NM_013352.4(DSE):c.387del:p.Asp128_Tyr129insTer	coding	Pathogenic
6	116437084	TGGG	T	G116437087C	DSE	NM_013352.4(DSE):c.2619_2621del:p.Gly874del	coding	Benign
6	116616786	T	TC	G116616790C	RSPH4A	NM_001010892.3(RSPH4A):c.166dup:p.Arg56fs	coding	Pathogenic
6	116617142	G	GA	G116617146A	RSPH4A	NM_001010892.3(RSPH4A):c.522dup:p.Glu175fs	coding	Pathogenic
6	116617289	CA	C	A116617290G	RSPH4A	NM_001010892.3(RSPH4A):c.667del:p.Ser223fs	coding	Pathogenic
6	116623001	TAGTA	T	A116623005C	RSPH4A	NM_001010892.3(RSPH4A):c.921+3_921+6del	coding	Pathogenic
6	116627715	CAT	C	A116627718T	RSPH4A	NM_001010892.3(RSPH4A):c.1011_1012del:p.Phe338fs	coding	Pathogenic
6	116627975	GA	G	A116627977C	RSPH4A	NM_001010892.3(RSPH4A):c.1270del:p.Thr424fs	coding	Pathogenic
6	116628196	G	GT	C116628198T	RSPH4A	NM_001010892.3(RSPH4A):c.1490dup:p.Ser498fs	coding	Pathogenic/Likely_pathogenic
6	116628367	CAGGT	C	T116628371A	RSPH4A	NM_001010892.3(RSPH4A):c.1662+2_1662+5del	coding	Pathogenic
6	116629609	GA	G	A116629611G	RSPH4A	NM_001010892.3(RSPH4A):c.1707del:p.Glu570fs	coding	Pathogenic
6	116629675	CTT	C	T116629678G	RSPH4A	NM_001010892.3(RSPH4A):c.1774_1775del:p.Leu592fs	coding	Pathogenic
6	116792598	A	AGG	T116792599G	GPRC6A	NM_148963.4(GPRC6A):c.2324_2325insCC:p.Glu776fs	coding	Benign
6	116792599	T	TA	T116792601A	GPRC6A	NM_148963.4(GPRC6A):c.2323dup:p.Tyr775fs	coding	Benign
6	116792602	T	TTCC	G116792604C	GPRC6A	NM_148963.4(GPRC6A):c.2320_2321insGGA:p.Lys774_Tyr775insArg	coding	Benign
6	116911037	GACAAGGTATCAATT	G	A116911041G	RFX6	NM_173560.4(RFX6):c.779_780+12del	coding	Pathogenic
6	116920440	GTATC	G	T116920443C	RFX6	NM_173560.4(RFX6):c.1316_1319del:p.Ile439fs	coding	Pathogenic
6	117342467	AT	A	T117342473A	ROS1	NM_002944.2(ROS1):c.4601del:p.Asn1534fs	coding	Pathogenic
6	117396179	G	GA	C117396181A	ROS1	NM_002944.2(ROS1):c.856+8dup	noncoding	Benign
6	117675767	T	TG	A117675770G	NUS1	NM_138459.5(NUS1):c.99dup:p.Asn34fs	coding	Pathogenic
6	117675789	G	GCTGCCGCGCCGCCT	G117675812C	NUS1	NM_138459.5(NUS1):c.128_141dup:p.Val48fs	coding	Pathogenic
6	117675883	CCCGCGCGGGGGGTCGTGCCTGGCAG	C	G117675888A	NUS1	NM_138459.5(NUS1):c.218_242del:p.Arg73fs	coding	Pathogenic
6	117675907	AGCCGCACACCACCGGATGCGCTGGCG	A	G117675908C	NUS1	NM_138459.5(NUS1):c.238_263del:p.Ala80fs	coding	Pathogenic
6	117703655	GA	G	A117703656C	NUS1	NM_138459.5(NUS1):c.743del:p.Asp248fs	coding	Pathogenic
6	118558943	A	ACTCG	A118558951G	PLN	NM_002667.5(PLN):c.26_29dup:p.Ala11fs	coding	Pathogenic
6	118558956	TAAG	T	A118558961G	PLN	NM_002667.5(PLN):c.37_39AGA[1]:p.Arg14del	coding	Pathogenic
6	121447000	C	CTTT	C121447004T	GJA1	NM_000165.5(GJA1):c.154_156dup:p.Phe52dup	coding	Pathogenic
6	121447534	CTA	C	A121447536G	GJA1	NM_000165.5(GJA1):c.689_690del:p.Tyr230fs	coding	Pathogenic
6	121447624	CTG	C	T121447627G	GJA1	NM_000165.5(GJA1):c.778_779TG[1]:p.Cys260fs	coding	Pathogenic
6	121447998	T	TA	C121448000A	GJA1	NM_000165.5(GJA1):c.*3dup	noncoding	Benign
6	121448759	A	AT	G121448770T	GJA1	NM_000165.5(GJA1):c.*773dup	noncoding	Benign
6	123255107	CTT	C	T123255109C	TRDN	NM_006073.4(TRDN):c.1923_1924del:p.Leu643fs	coding	Pathogenic
6	123255869	TTTTC	T	T123255872C	TRDN	NM_006073.4(TRDN):c.1900_1903del:p.Glu634fs	coding	Pathogenic/Likely_pathogenic
6	123265317	CT	C	T123265319G	TRDN	NM_006073.4(TRDN):c.1806del:p.Gly603fs	coding	Pathogenic
6	123273359	TAT	A	T123273359A	TRDN	NM_006073.4(TRDN):c.1600_1602delinsT:p.Ile534fs	coding	Pathogenic
6	123273365	T	TA	T123273370A	TRDN	NM_006073.4(TRDN):c.1598-6dup	noncoding	Benign/Likely_benign
6	123464887	GA	G	A123464897G	TRDN	NM_006073.4(TRDN):c.931+18del	coding	Benign
6	123503893	TC	T	C123503894T	TRDN	NM_006073.4(TRDN):c.618del:p.Ala208fs	coding	Pathogenic
6	123512339	T	TC	T123512341C	TRDN	NM_006073.4(TRDN):c.573dup:p.Lys192fs	coding	Pathogenic
6	123512344	A	AT	C123512351T	TRDN	NM_006073.4(TRDN):c.568dup:p.Ile190fs	coding	Pathogenic/Likely_pathogenic
6	123516182	CCTTTTT	C	T123516193G	TRDN	NM_006073.4(TRDN):c.497_502AAAAAG[1]:p.166_167EK[1]	coding	Benign
6	123530326	TTATACATTTATAACTGAAATTAACTGA	T	T123530354G	TRDN	NM_006073.4(TRDN):c.484+153_484+179del	noncoding	Benign
6	123530547	GTCTTA	G	A123530552T	TRDN	NM_006073.4(TRDN):c.438_442del:p.Asp146_Lys147insTer	coding	Pathogenic
6	123548624	TAA	T	A123548638G	TRDN	NM_006073.4(TRDN):c.233-14_233-13del	noncoding	Benign
6	123571098	GCTGT	G	G123571101A	TRDN	NM_006073.4(TRDN):c.53_56del:p.Asp18fs	coding	Pathogenic
6	128883255	GC	G	C128883257G	LAMA2	NM_000426.3(LAMA2):c.12del:p.Ala5fs	coding	Pathogenic/Likely_pathogenic
6	129050056	G	GA	T129050059A	LAMA2	NM_000426.3(LAMA2):c.253dup:p.Ile85fs	coding	Pathogenic
6	129059698	C	CG	A129059699G	LAMA2	NM_000426.3(LAMA2):c.284-86_284-85insG	noncoding	Benign
6	129098168	CCTAGGTGTTCCAGATCGCGTATGTGATTGTGAAGGCAGCTAACTCCCCCCGGCCTGGAAACTGGATTTTGGAACGCTCTCTTGATG	C	C129098169A	LAMA2	NM_000426.3(LAMA2):c.397-4_478del	noncoding	Pathogenic
6	129098218	C	CG	C129098221G	LAMA2	NM_000426.3(LAMA2):c.444dup:p.Pro149fs	coding	Pathogenic
6	129098298	G	GGAGTGCCTAAC	C129098311A	LAMA2	NM_000426.3(LAMA2):c.524_534dup:p.Leu179delinsSerAlaTer	coding	Pathogenic
6	129146963	AC	A	C129146964T	LAMA2	NM_000426.3(LAMA2):c.825del:p.Tyr276fs	coding	Pathogenic
6	129149007	CAT	C	A129149008G	LAMA2	NM_000426.3(LAMA2):c.939_940del:p.Cys314fs	coding	Pathogenic
6	129154504	GCATGCAATTGT	G	C129154509G	LAMA2	NM_000426.3(LAMA2):c.1032_1042del:p.Cys344fs	coding	Pathogenic
6	129154598	GA	G	A129154599G	LAMA2	NM_000426.3(LAMA2):c.1122del:p.Gly376fs	coding	Pathogenic
6	129154599	AG	A	G129154604T	LAMA2	NM_000426.3(LAMA2):c.1127del:p.Gly376fs	coding	Pathogenic
6	129154665	CT	C	T129154667C	LAMA2	NM_000426.4(LAMA2):c.1190del:p.Phe397fs	coding	Pathogenic
6	129165622	CA	C	A129165624T	LAMA2	NM_000426.4(LAMA2):c.1255del:p.Ile419fs	coding	Pathogenic
6	129165630	TC	T	C129165632T	LAMA2	NM_000426.4(LAMA2):c.1263del:p.Ser421_Leu422insTer	coding	Pathogenic
6	129165644	CTG	C	G129165648C	LAMA2	NM_001079823.2(LAMA2):c.1277_1278GT[1]:p.Val427fs	coding	Pathogenic
6	129165669	CG	C	G129165670A	LAMA2	NM_000426.3(LAMA2):c.1301del:p.Arg434fs	coding	Pathogenic
6	129177780	ACT	A	C129177781G	LAMA2	NM_000426.4(LAMA2):c.1382_1383del:p.Thr461fs	coding	Pathogenic
6	129192679	GAT	G	T129192681C	LAMA2	NM_000426.3(LAMA2):c.1610_1611del:p.Ile537fs	coding	Pathogenic
6	129192796	GCAAGCCCTGCCGCACAGCTACTACTGGAGCGCGCCGGCTCC	G	A129192798T	LAMA2	NM_000426.3(LAMA2):c.1727_1767del:p.Gln576fs	coding	Pathogenic
6	129192831	CG	C	G129192833C	LAMA2	NM_000426.3(LAMA2):c.1762del:p.Ala588fs	coding	Pathogenic
6	129192850	CAA	C	A129192852G	LAMA2	NM_000426.3(LAMA2):c.1781_1782del:p.Lys594fs	coding	Pathogenic
6	129250182	A	AACATGTTC	G129250185A	LAMA2	NM_000426.3(LAMA2):c.1855_1856insATGTTCAC:p.Arg619fs	coding	Pathogenic
6	129250182	A	AACGTGTTC	T129250191A	LAMA2	NM_001079823.2(LAMA2):c.1854_1861dup:p.Leu621fs	coding	Pathogenic
6	129252088	ATGACT	A	C129252092G	LAMA2	NM_000426.3(LAMA2):c.1893_1897del:p.Asp631fs	coding	Pathogenic
6	129252242	G	CT	G129252242C	LAMA2	NM_000426.4(LAMA2):c.2043delinsCT:p.Leu681fs	coding	Pathogenic
6	129252263	CACAT	C	T129252267G	LAMA2	NM_000426.3(LAMA2):c.2068_2071del:p.Tyr690fs	coding	Pathogenic
6	129270650	A	AT	A129270652T	LAMA2	NM_000426.3(LAMA2):c.2350dup:p.Tyr784fs	coding	Pathogenic
6	129287861	AT	A	T129287865G	LAMA2	NM_001079823.2(LAMA2):c.2556del:p.Phe852fs	coding	Pathogenic/Likely_pathogenic
6	129312825	TTG	T	G129312829T	LAMA2	NM_000426.3(LAMA2):c.3175-32_3175-31del	noncoding	Benign
6	129312900	TG	T	G129312901C	LAMA2	NM_000426.3(LAMA2):c.3215del:p.Cys1072fs	coding	Pathogenic
6	129313014	CT	C	T129313015C	LAMA2	NM_000426.4(LAMA2):c.3329del:p.Leu1110fs	coding	Pathogenic
6	129314688	CGGCCT	C	C129314692A	LAMA2	NM_000426.4(LAMA2):c.3449_3453del:p.Pro1150fs	coding	Pathogenic
6	129315479	ACT	A	C129315482G	LAMA2	NM_000426.4(LAMA2):c.3560_3561CT[1]:p.Leu1188fs	coding	Pathogenic
6	129315539	ACCAAGGGCATTGTTTTTCAACAT	A	A129315543G	LAMA2	NM_000426.3(LAMA2):c.3623_3645del:p.Lys1208fs	coding	Pathogenic/Likely_pathogenic
6	129315548	AT	A	T129315550G	LAMA2	NM_000426.3(LAMA2):c.3630del:p.Ile1210fs	coding	Pathogenic
6	129315773	T	TG	C129315779G	LAMA2	NM_000426.3(LAMA2):c.3752dup:p.Lys1252fs	coding	Pathogenic
6	129315822	GGTTTCTCTACATATAATCCTCAA	G	T129315825G	LAMA2	NM_000426.3(LAMA2):c.3799_3821del:p.Phe1267fs	coding	Pathogenic
6	129316091	A	AGAAGACT	T129316099G	LAMA2	NM_000426.3(LAMA2):c.3979_3985dup:p.Phe1329Ter	coding	Pathogenic
6	129328380	AG	A	G129328381C	LAMA2	NM_000426.4(LAMA2):c.4280del:p.Ser1427fs	coding	Pathogenic
6	129353172	CT	C	T129353173G	LAMA2	NM_000426.4(LAMA2):c.4533del:p.Gly1512fs	coding	Pathogenic
6	129353349	AGT	A	G129353354T	LAMA2	NM_000426.4(LAMA2):c.4714_4715del:p.Val1572fs	coding	Pathogenic
6	129366238	T	TG	C129366241G	LAMA2	NM_000426.4(LAMA2):c.4739dup:p.Leu1581fs	coding	Pathogenic
6	129366363	T	GGCC	T129366363G	LAMA2	NM_000426.3(LAMA2):c.4860+2delinsGGCC	noncoding	Pathogenic
6	129369988	AG	A	G129369991T	LAMA2	NM_001079823.2(LAMA2):c.4959+1del	coding	Pathogenic
6	129383123	CT	C	T129383124A	LAMA2	NM_000426.4(LAMA2):c.4962del:p.Thr1655fs	coding	Pathogenic
6	129391480	AC	A	C129391485T	LAMA2	NM_000426.3(LAMA2):c.5072-6del	noncoding	Benign/Likely_benign
6	129391571	CAGAA	C	A129391575G	LAMA2	NM_000426.3(LAMA2):c.5156_5159del:p.Lys1719fs	coding	Pathogenic
6	129393063	GA	G	A129393069G	LAMA2	NM_000426.3(LAMA2):c.5259del:p.Lys1753_Val1754insTer	coding	Pathogenic/Likely_pathogenic
6	129393069	AG	A	G129393070T	LAMA2	NM_000426.3(LAMA2):c.5260del:p.Lys1753_Val1754insTer	coding	Pathogenic
6	129393094	C	CG	A129393101G	LAMA2	NM_000426.3(LAMA2):c.5290dup:p.Glu1764fs	coding	Pathogenic/Likely_pathogenic
6	129393130	G	GA	C129393136A	LAMA2	NM_000426.3(LAMA2):c.5325dup:p.Leu1776fs	coding	Pathogenic/Likely_pathogenic
6	129402342	AC	A	C129402343T	LAMA2	NM_000426.4(LAMA2):c.5582del:p.Thr1861fs	coding	Pathogenic
6	129402466	ACTCATCT	A	C129402467G	LAMA2	NM_000426.3(LAMA2):c.5706_5712del:p.Asp1902fs	coding	Pathogenic/Likely_pathogenic
6	129403945	GA	G	A129403947G	LAMA2	NM_000426.3(LAMA2):c.5853del:p.Ala1952fs	coding	Pathogenic
6	129438684	GA	G	A129438688T	LAMA2	NM_000426.3(LAMA2):c.6011del:p.Asn2004fs	coding	Pathogenic
6	129438713	CT	C	T129438715G	LAMA2	NM_000426.3(LAMA2):c.6038del:p.Leu2012_Leu2013insTer	coding	Pathogenic
6	129438748	CA	C	A129438749G	LAMA2	NM_000426.4(LAMA2):c.6072del:p.Ala2025fs	coding	Pathogenic
6	129440879	ATGTACTG	A	T129440880G	LAMA2	NM_000426.4(LAMA2):c.6150_6156del:p.Asp2050fs	coding	Pathogenic
6	129445674	T	TG	C129445676G	LAMA2	NM_000426.4(LAMA2):c.6283dup:p.Ala2095fs	coding	Pathogenic
6	129453000	GT	G	T129453001G	LAMA2	NM_000426.3(LAMA2):c.6443del:p.Val2148fs	coding	Pathogenic
6	129453044	CA	C	A129453046G	LAMA2	NM_000426.3(LAMA2):c.6488del:p.Lys2163fs	coding	Pathogenic
6	129460249	CAT	C	T129460251C	LAMA2	NM_000426.3(LAMA2):c.6919_6920del:p.Tyr2307fs	coding	Pathogenic/Likely_pathogenic
6	129465140	AATAGAG	T	A129465140T	LAMA2	NM_000426.3(LAMA2):c.7156-5_7157delinsT	noncoding	Pathogenic
6	129465169	AC	A	C129465170T	LAMA2	NM_000426.3(LAMA2):c.7181del:p.Thr2394fs	coding	Pathogenic
6	129465195	C	CGA	T129465198G	LAMA2	NM_000426.3(LAMA2):c.7207_7208dup:p.Asp2403fs	coding	Pathogenic
6	129465265	ACT	A	C129465268G	LAMA2	NM_000426.4(LAMA2):c.7279_7280del:p.Leu2427fs	coding	Pathogenic
6	129473289	G	GT	C129473291T	LAMA2	NM_000426.4(LAMA2):c.7377dup:p.Leu2460fs	coding	Pathogenic
6	129478712	A	AAAT	T129478717A	LAMA2	NM_000426.4(LAMA2):c.7473_7475dup:p.Tyr2492Ter	coding	Pathogenic
6	129478729	C	CAAAG	T129478735A	LAMA2	NM_000426.3(LAMA2):c.7490_7493dup:p.Asp2498fs	coding	Pathogenic
6	129478774	TC	T	C129478777G	LAMA2	NM_000426.3(LAMA2):c.7536del:p.Asp2513fs	coding	Pathogenic
6	129481312	CT	C	T129481313G	LAMA2	NM_000426.4(LAMA2):c.7623del:p.Val2542fs	coding	Pathogenic
6	129481347	TC	T	C129481348A	LAMA2	NM_000426.3(LAMA2):c.7658del:p.Ser2553fs	coding	Pathogenic
6	129481400	A	AG	C129481401G	LAMA2	NM_000426.3(LAMA2):c.7710_7711insG:p.Pro2571fs	coding	Pathogenic
6	129486547	AAATTGTGATCAGACCAGAGCCG	A	T129486551C	LAMA2	NM_000426.4(LAMA2):c.7827_7848del:p.Val2610fs	coding	Pathogenic
6	129491988	TG	T	G129491993T	LAMA2	NM_000426.3(LAMA2):c.7991del:p.Gly2664fs	coding	Pathogenic
6	129492019	C	CCACT	G129492026C	LAMA2	NM_000426.4(LAMA2):c.8020_8023dup:p.Arg2675fs	coding	Pathogenic
6	129492333	GC	G	C129492335T	LAMA2	NM_000426.4(LAMA2):c.8096del:p.Pro2699fs	coding	Pathogenic
6	129492365	GC	G	C129492366T	LAMA2	NM_000426.4(LAMA2):c.8127del:p.Cys2710fs	coding	Pathogenic
6	129492417	AAT	A	T129492419G	LAMA2	NM_000426.3(LAMA2):c.8180_8181del:p.Ile2727fs	coding	Pathogenic
6	129505230	A	ATTCT	A129505237C	LAMA2	NM_000426.3(LAMA2):c.8581_8584dup:p.Tyr2862fs	coding	Pathogenic
6	129505319	G	GT	A129505322T	LAMA2	NM_000426.3(LAMA2):c.8669dup:p.Leu2890fs	coding	Pathogenic
6	129505329	AACTAC	A	A129505335C	LAMA2	NM_000426.4(LAMA2):c.8678_8682ACTAC[1]:p.Thr2895fs	coding	Pathogenic
6	129505342	GA	G	A129505344G	LAMA2	NM_000426.4(LAMA2):c.8692del:p.Arg2898fs	coding	Pathogenic
6	129507552	G	GA	C129507555A	LAMA2	NM_000426.3(LAMA2):c.8769dup:p.Gln2924fs	coding	Pathogenic
6	129514412	G	GCTGT	A129514419G	LAMA2	NM_000426.4(LAMA2):c.9031_9034dup:p.Tyr3012fs	coding	Pathogenic
6	129514482	T	TCAAA	C129514489A	LAMA2	NM_001079823.2(LAMA2):c.9089_9092dup:p.His3031fs	coding	Pathogenic
6	129516199	AG	A	G129516200C	LAMA2	NM_000426.4(LAMA2):c.9222del:p.Lys3074fs	coding	Pathogenic
6	129516535	AAAT	A	A129516540T	LAMA2	NM_001079823.2(LAMA2):c.*190_*192ATA[1]	noncoding	Benign
6	131573345	GA	G	A131573351G	ARG1	NM_000045.4(ARG1):c.57+12del	noncoding	Benign
6	131579166	TC	T	C131579169T	ARG1	NM_000045.4(ARG1):c.189del:p.Gln65fs	coding	Pathogenic
6	131579250	C	CG	A131579253G	ARG1	NM_000045.4(ARG1):c.272dup:p.Arg92fs	coding	Pathogenic/Likely_pathogenic
6	131581247	G	GC	A131581250C	ARG1	NM_000045.4(ARG1):c.336dup:p.Arg113fs	coding	Pathogenic
6	131581336	TG	T	G131581338A	ARG1	NM_000045.4(ARG1):c.425del:p.Gly142fs	coding	Pathogenic
6	131581374	G	GA	G131581378A	ARG1	NM_000045.4(ARG1):c.464dup:p.Ile156fs	coding	Pathogenic
6	131583142	ACACT	A	C131583145G	ARG1	NM_000045.4(ARG1):c.646_649del:p.Leu216fs	coding	Pathogenic
6	131583746	ACT	A	T131583750A	ARG1	NM_000045.4(ARG1):c.809_810TC[1]:p.Ser271fs	coding	Pathogenic
6	131583780	TC	T	C131583783T	ARG1	NM_000045.4(ARG1):c.844del:p.Leu282fs	coding	Pathogenic
6	131583875	CA	C	A131583877G	ARG1	NM_000045.4(ARG1):c.938del:p.Lys313fs	coding	Pathogenic
6	131627676	T	TA	C131627691A	MED23	NM_004830.4(MED23):c.40-18dup	noncoding	Benign/Likely_benign
6	131847820	TG	T	G131847823T	ENPP1	NM_006208.3(ENPP1):c.288del:p.Gly96_Leu97insTer	coding	Pathogenic
6	131847855	AG	A	G131847857T	ENPP1	NM_006208.3(ENPP1):c.313+9del	noncoding	Benign
6	131847856	G	GGTGT	A131847895G	ENPP1	NM_006208.3(ENPP1):c.313+9GT[21]	noncoding	Benign
6	131847856	GGT	G	G131847893A	ENPP1	NM_006208.3(ENPP1):c.313+9GT[18]	noncoding	Benign
6	131847858	TGTGTG	T	G131847859T	ENPP1	NM_006208.3(ENPP1):c.313+11_313+15del	noncoding	Benign
6	131850105	AG	A	G131850107T	ENPP1	NM_006208.3(ENPP1):c.430+1del	coding	Pathogenic
6	131864550	TACAGCTTCCTA	T	C131864552A	ENPP1	NM_006208.3(ENPP1):c.1072_1082del:p.Gln358fs	coding	Pathogenic
6	131872108	ATCTT	A	C131872110A	ENPP1	NM_006208.3(ENPP1):c.1437+9_1437+12del	noncoding	Benign
6	131882330	AT	A	T131882334C	ENPP1	NM_006208.3(ENPP1):c.2101-11del	noncoding	Benign
6	131882334	TC	T	C131882335G	ENPP1	NM_006208.3(ENPP1):c.2101-10del	noncoding	Benign/Likely_benign
6	131883709	C	CA	G131883712A	ENPP1	NM_006208.3(ENPP1):c.2248dup:p.Ser750fs	coding	Pathogenic
6	131891209	T	TA	T131891210A	ENPP1	NM_006208.3(ENPP1):c.*698_*699insA	noncoding	Benign
6	133456593	CA	C	A133456594G	EYA4	NM_004100.5(EYA4):c.316del:p.Ser106fs	coding	Pathogenic
6	133462335	GC	G	C133462338T	EYA4	NM_004100.5(EYA4):c.441del:p.Tyr148fs	coding	Pathogenic
6	133462474	T	TA	C133462476A	EYA4	NM_004100.5(EYA4):c.578dup:p.Tyr193Ter	coding	Pathogenic
6	133462487	ATCT	A	T133462491G	EYA4	NM_004100.5(EYA4):c.580+14_580+16del	noncoding	Benign/Likely_benign
6	133481480	CAG	C	A133481483T	EYA4	NM_004100.5(EYA4):c.989_990AG[1]:p.Pro332fs	coding	Pathogenic
6	133481500	CA	C	A133481503G	EYA4	NM_004100.5(EYA4):c.1011del:p.Asp338fs	coding	Pathogenic
6	133483039	TTGTC	T	T133483042G	EYA4	NM_004100.5(EYA4):c.1118_1121del:p.Val373fs	coding	Pathogenic
6	133506134	TCCGCA	T	C133506135T	EYA4	NM_004100.5(EYA4):c.1221_1225del:p.Arg408fs	coding	Pathogenic
6	133523159	TAC	AAA	T133523159A	EYA4	NM_004100.5(EYA4):c.1720_1722delinsAAA:p.Tyr574Lys	coding	Pathogenic
6	135189777	CTTTA	C	A135189781G	MYB	NM_001130173.2(MYB):c.214-10_214-7del	noncoding	Benign
6	135284586	AAAAT	A	A135284593T	AHI1	NM_001134831.2(AHI1):c.*1051_*1054ATTT[1]	noncoding	Benign
6	135300484	TGAA	T	A135300489T	AHI1	NM_001134831.2(AHI1):c.3485+13_3485+15del	noncoding	Benign
6	135323254	C	CGGATAAT	T135323263G	AHI1	NM_001134831.2(AHI1):c.3229_3235dup:p.Arg1079fs	coding	Pathogenic
6	135358205	TGTGA	T	G135358208A	AHI1	NM_001134831.2(AHI1):c.3110-22_3110-19del	noncoding	Benign/Likely_benign
6	135404950	CT	C	T135404954G	AHI1	NM_001134831.2(AHI1):c.2988del:p.Val997fs	coding	Pathogenic/Likely_pathogenic
6	135411338	AT	A	T135411339A	AHI1	NM_001134831.2(AHI1):c.2961+9del	noncoding	Benign
6	135411389	T	TTGAAGAAC	T135411399G	AHI1	NM_001134831.2(AHI1):c.2912_2919dup:p.Thr974fs	coding	Pathogenic
6	135427188	GA	G	A135427190G	AHI1	NM_001134831.2(AHI1):c.2742del:p.Leu915fs	coding	Pathogenic
6	135428647	CATACACT	C	A135428652C	AHI1	NM_001134831.2(AHI1):c.2598_2604del:p.Ile866fs	coding	Pathogenic
6	135431212	T	TA	T135431213A	AHI1	NM_001134831.2(AHI1):c.2368_2369insT:p.Asn790fs	coding	Pathogenic
6	135431262	GGTAT	G	G135431263T	AHI1	NM_001134831.2(AHI1):c.2315_2318del:p.Asn772fs	coding	Pathogenic
6	135433045	G	GT	G135433047T	AHI1	NM_001134831.2(AHI1):c.2247dup:p.Leu750fs	coding	Pathogenic
6	135433096	AATCTTCTCTC	A	T135433101C	AHI1	NM_001134831.2(AHI1):c.2187_2196del:p.Met729fs	coding	Pathogenic
6	135433120	AT	A	T135433121A	AHI1	NM_001134831.2(AHI1):c.2172del:p.Trp725fs	coding	Pathogenic
6	135433193	A	AAC	A135433197C	AHI1	NM_001134831.2(AHI1):c.2098_2099dup:p.Tyr701fs	coding	Pathogenic
6	135442595	T	TCC	A135442598C	AHI1	NM_001134831.2(AHI1):c.1897_1898dup:p.Tyr634fs	coding	Pathogenic
6	135442604	GC	G	C135442605T	AHI1	NM_001134831.2(AHI1):c.1889del:p.Ser630fs	coding	Pathogenic
6	135442653	C	CA	C135442659A	AHI1	NM_001134831.2(AHI1):c.1840dup:p.Cys614fs	coding	Pathogenic
6	135442796	CTTTT	C	T135442797A	AHI1	NM_001134831.2(AHI1):c.1780-86_1780-83del	noncoding	Benign
6	135447025	TC	T	C135447027A	AHI1	NM_001134831.2(AHI1):c.1761del:p.Lys586_Trp587insTer	coding	Pathogenic
6	135447109	G	GT	A135447113T	AHI1	NM_001134831.2(AHI1):c.1677dup:p.Pro560fs	coding	Pathogenic
6	135448285	C	CGTAA	T135448286G	AHI1	NM_001134831.2(AHI1):c.1626+4_1626+5insTTAC	noncoding	Pathogenic
6	135448301	CT	C	T135448304C	AHI1	NM_001134831.2(AHI1):c.1614del:p.Val539fs	coding	Pathogenic
6	135448417	TAA	T	A135448418T	AHI1	NM_001134831.2(AHI1):c.1497_1498del:p.Tyr499_Tyr500delinsTer	coding	Pathogenic
6	135453425	GA	G	A135453428T	AHI1	NM_001134831.2(AHI1):c.1355del:p.Phe452fs	coding	Pathogenic
6	135455747	A	ATATCC	G135455749A	AHI1	NM_001134831.2(AHI1):c.1330_1331insGGATA:p.Ile444fs	coding	Pathogenic
6	135455751	CT	C	T135455754A	AHI1	NM_001134831.2(AHI1):c.1326del:p.Val443fs	coding	Pathogenic
6	135455765	T	TC	A135455767C	AHI1	NM_001134831.2(AHI1):c.1312dup:p.Asp438fs	coding	Pathogenic
6	135455842	C	CT	G135455844T	AHI1	NM_001134831.2(AHI1):c.1235dup:p.Leu413fs	coding	Pathogenic
6	135463145	G	GT	G135463154T	AHI1	NM_001134831.2(AHI1):c.910dup:p.Thr304fs	coding	Pathogenic
6	135463145	GT	G	T135463153G	AHI1	NM_001134831.2(AHI1):c.910del:p.Thr304fs	coding	Pathogenic
6	135463219	AT	A	T135463220C	AHI1	NM_001134831.2(AHI1):c.836del:p.Asp279fs	coding	Pathogenic
6	135465859	C	CT	C135465866T	AHI1	NM_001134831.2(AHI1):c.703dup:p.Arg235fs	coding	Pathogenic/Likely_pathogenic
6	135490672	TCACGCATTAGATCA	T	A135490674T	AHI1	NM_001134831.2(AHI1):c.72_85del:p.Ser24fs	coding	Pathogenic/Likely_pathogenic
6	136822669	A	AGTGCGGT	G136822685T	PEX7	NM_000288.4(PEX7):c.6_12TGCGGTG[3]:p.Gly7fs	coding	Pathogenic/Likely_pathogenic
6	136822702	C	CGGACGCCG	A136822718G	PEX7	NM_000288.4(PEX7):c.45_52dup:p.His18fs	coding	Pathogenic
6	136822713	A	ACGCCACGGCTACGCCGCCGAGT	T136822736C	PEX7	NM_000288.4(PEX7):c.49_70dup:p.Phe24fs	coding	Pathogenic
6	136822838	AGGCG	GGGCC	A136822838G	PEX7	NM_000288.4(PEX7):c.130+43_130+47delinsGGGCC	noncoding	Benign
6	136822842	G	GGGGGCC	A136822849G	PEX7	NM_000288.4(PEX7):c.130+48_130+53dup	noncoding	Benign
6	136825261	CT	C	T136825266A	PEX7	NM_000288.4(PEX7):c.183del:p.Phe61fs	coding	Pathogenic/Likely_pathogenic
6	136826340	GT	G	T136826343G	PEX7	NM_000288.4(PEX7):c.213del:p.Phe71fs	coding	Pathogenic
6	136846083	CT	C	T136846084G	PEX7	NM_000288.4(PEX7):c.429del:p.Val144fs	coding	Pathogenic/Likely_pathogenic
6	136866637	TC	T	C136866638T	PEX7	NM_000288.4(PEX7):c.538del:p.Thr179_Leu180insTer	coding	Pathogenic
6	136872182	C	CT	G136872194T	PEX7	NM_000288.4(PEX7):c.748-5dup	noncoding	Benign
6	136872182	CT	C	T136872193G	PEX7	NM_000288.4(PEX7):c.748-5del	noncoding	Benign
6	136913781	T	TGTA	C136913784A	PEX7	NM_000288.4(PEX7):c.*257_*258insAGT	noncoding	Benign
6	136913929	AT	A	T136913933A	PEX7	NM_000288.4(PEX7):c.*407del	noncoding	Benign
6	137004764	TAA	T	A137004778G	IL20RA	NM_014432.3(IL20RA):c.725-6_725-5del	noncoding	Benign
6	137004764	TA	T	A137004779G	IL20RA	NM_014432.3(IL20RA):c.725-5del	noncoding	Benign
6	137200919	GATTA	G	A137200923T	IFNGR1	NM_000416.2(IFNGR1):c.819_822del:p.Asn274fs	coding	Pathogenic
6	137200922	TA	T	A137200924T	IFNGR1	NM_000416.2(IFNGR1):c.819del:p.Asn274fs	coding	Pathogenic
6	137200947	GA	G	A137200949T	IFNGR1	NM_000416.2(IFNGR1):c.794del:p.Phe265fs	coding	Pathogenic
6	137203588	ACAC	GG	A137203588G	IFNGR1	NM_000416.2(IFNGR1):c.641_644delinsCC:p.Cys214fs	coding	Pathogenic
6	137204401	GA	G	A137204402C	IFNGR1	NM_000416.3(IFNGR1):c.476del:p.Val159fs	coding	Pathogenic
6	137206202	TAACTCTGACCCA	T	C137206205G	IFNGR1	NM_000416.2(IFNGR1):c.295_306del:p.Trp99_Val102del	coding	Pathogenic
6	137207031	AG	A	G137207034T	IFNGR1	NM_000416.2(IFNGR1):c.131del:p.Pro44fs	coding	Pathogenic
6	137207055	T	TGTAA	C137207060G	IFNGR1	NM_001363527.1(IFNGR1):c.-20_-17dup	coding	Pathogenic
6	137207069	GTGTAGGCAC	G	G137207074A	IFNGR1	NM_000416.3(IFNGR1):c.86-1_93del	coding	Pathogenic
6	137876029	AT	A	T137876032C	TNFAIP3	NM_001270508.2(TNFAIP3):c.671del:p.Phe224fs	coding	Pathogenic
6	137876159	TG	T	G137876162C	TNFAIP3	NM_001270508.2(TNFAIP3):c.801del:p.Pro268fs	coding	Pathogenic
6	137877178	TA	T	A137877182G	TNFAIP3	NM_001270508.2(TNFAIP3):c.912del:p.Glu305fs	coding	Pathogenic
6	137878536	GGAG	AGGAA	G137878536A	TNFAIP3	NM_001270508.2(TNFAIP3):c.1091_1094delinsAGGAA:p.Arg364fs	coding	Pathogenic
6	137879250	CG	C	G137879254A	TNFAIP3	NM_001270508.2(TNFAIP3):c.1809del:p.Thr604fs	coding	Pathogenic
6	137879320	ACT	A	C137879321G	TNFAIP3	NM_001270508.2(TNFAIP3):c.1876_1877del:p.Leu626fs	coding	Pathogenic
6	142370457	A	AT	G142370463T	ADGRG6	NM_198569.3(ADGRG6):c.738dup:p.Ala247fs	coding	Pathogenic
6	142402837	AT	A	T142402847C	ADGRG6	NM_198569.3(ADGRG6):c.1955+17del	noncoding	Benign
6	142405702	T	TG	A142405705G	ADGRG6	NM_198569.3(ADGRG6):c.2144dup:p.Gln716fs	coding	Pathogenic
6	142753831	GGACCCTCA	G	A142753833G	HIVEP2	NM_006734.4(HIVEP2):c.6609_6616del:p.Pro2203_Glu2204insTer	coding	Pathogenic
6	142760331	GGT	G	G142760334C	HIVEP2	NM_006734.4(HIVEP2):c.5953_5954AC[1]:p.Pro1986fs	coding	Pathogenic
6	142760387	CG	C	G142760388A	HIVEP2	NM_006734.4(HIVEP2):c.5900del:p.Ser1967fs	coding	Pathogenic
6	142760452	AG	A	G142760454A	HIVEP2	NM_006734.4(HIVEP2):c.5835del:p.Leu1946fs	coding	Pathogenic
6	142760468	AG	A	G142760470C	HIVEP2	NM_006734.4(HIVEP2):c.5819del:p.Pro1940fs	coding	Pathogenic
6	142760543	AT	A	T142760544C	HIVEP2	NM_006734.4(HIVEP2):c.5744del:p.Asp1915fs	coding	Pathogenic
6	142760550	TC	T	C142760551A	HIVEP2	NM_006734.4(HIVEP2):c.5737del:p.Asp1913fs	coding	Pathogenic
6	142761469	T	TC	T142761472C	HIVEP2	NM_006734.4(HIVEP2):c.5614dup:p.Glu1872fs	coding	Pathogenic
6	142771210	AG	A	G142771212A	HIVEP2	NM_006734.4(HIVEP2):c.3528del:p.Tyr1177fs	coding	Pathogenic
6	142771246	C	CCTGACTGTCCATGTGCATGATCTGTGGCTGGG	C142771280T	HIVEP2	NM_006734.4(HIVEP2):c.3461_3492dup:p.Glu1165fs	coding	Pathogenic
6	142771781	TTC	T	C142771785T	HIVEP2	NM_006734.4(HIVEP2):c.2954_2955GA[1]:p.Glu986fs	coding	Pathogenic
6	143462894	AT	A	T143462902G	PEX3	NM_003630.3(PEX3):c.206-14del	noncoding	Benign
6	143468123	CCTTCAAACAAG	C	T143468126A	PEX3	NM_003630.3(PEX3):c.292_302del:p.Ser98fs	coding	Pathogenic
6	143468162	ATAAG	A	T143468167C	PEX3	NM_003630.3(PEX3):c.331+2_331+5del	coding	Pathogenic
6	143472315	CA	C	A143472316T	PEX3	NM_003630.3(PEX3):c.735del:p.Pro245_Leu246insTer	coding	Pathogenic
6	144186995	CAG	C	A144186996T	STX11	NM_003764.4(STX11):c.369_370del:p.Val124fs	coding	Pathogenic
6	144186996	AGTGGCGC	TGG	A144186996T	STX11	NM_003764.4(STX11):c.369_376delinsTGG:p.Val124fs	coding	Pathogenic
6	144187205	TGCTG	T	T144187208C	STX11	NM_003764.4(STX11):c.581_584del:p.Leu194fs	coding	Pathogenic
6	144187313	T	TG	C144187315G	STX11	NM_003764.4(STX11):c.687dup:p.Gln230fs	coding	Pathogenic
6	144191534	T	TA	T144191546A	STX11	NM_003764.4(STX11):c.*4054dup	noncoding	Benign
6	145627458	G	GA	T145627465A	EPM2A	NM_005670.4(EPM2A):c.953dup:p.Gln319fs	coding	Pathogenic
6	145686120	ACCTTGAATAATGCATGGCTTGGTGGCCTGCAATATTAAAATAGAAGTCTGTTGTGTGCTTCATTTCATTGGTGTGCCCAGTGGCCTCAATCCAGTGTCCTATTGGGAGACAATACACACCATCCACCAAGTTGTTTTCATTGTAAGTACAGCAACGGTCATGATGAGGTCCATTG	A	T145686124A	EPM2A	NM_005670.4(EPM2A):c.303_476+1del	noncoding	Pathogenic
6	145686128	T	TAATG	C145686133A	EPM2A	NM_005670.4(EPM2A):c.466_469dup:p.Tyr157fs	coding	Pathogenic
6	145686233	T	TAC	C145686240A	EPM2A	NM_005670.4(EPM2A):c.363_364dup:p.Tyr122fs	coding	Pathogenic
6	145686262	G	GT	A145686264T	EPM2A	NM_005670.4(EPM2A):c.335dup:p.Tyr112Ter	coding	Pathogenic
6	145735223	CTCCCGCT	C	C145735226A	EPM2A;FBXO30-DT	NM_005670.4(EPM2A):c.269_275del:p.Lys90fs	coding	Pathogenic
6	145735380	AG	A	G145735382C	EPM2A	NM_005670.4(EPM2A):c.118del:p.Arg39_Leu40insTer	coding	Pathogenic
6	146029535	G	GT	C146029544T	GRM1	NM_001278064.2(GRM1):c.26dup:p.Ala11fs	coding	Pathogenic
6	146434372	G	GC	G146434377C	GRM1	NM_001278064.2(GRM1):c.3165dup:p.Gly1056fs	coding	Pathogenic
6	148531623	A	AAAGT	C148531628A	SASH1	NM_015278.5(SASH1):c.1527_1530dup:p.Leu511fs	coding	Pathogenic
6	149378165	TCA	T	C149378168G	TAB2	NM_001292034.3(TAB2):c.253_254del:p.Gln85fs	coding	Pathogenic
6	149378536	TCCACA	T	C149378537G	TAB2	NM_001292034.3(TAB2):c.622_626del:p.Pro208fs	coding	Pathogenic
6	149378786	ACT	A	C149378787A	TAB2	NM_001292034.3(TAB2):c.872_873del:p.Thr291fs	coding	Pathogenic
6	149378825	TCA	T	C149378828G	TAB2	NM_001292034.3(TAB2):c.911_912CA[1]:p.Gln305fs	coding	Pathogenic
6	149379300	AC	A	C149379301A	TAB2	NM_001292034.3(TAB2):c.1386del:p.Lys461_Tyr462insTer	coding	Pathogenic
6	150389486	TTCA	T	C150389488A	IYD	NM_203395.3(IYD):c.315_317del:p.Phe105_Ile106delinsLeu	coding	Pathogenic
6	150402911	A	ACTGGGGGTGATTCAC	T150402914G	IYD	NM_203395.3(IYD):c.*4676_*4677insGGGGGTGATTCACCT	noncoding	Benign
6	151353177	AAAG	A	A151353181G	AKAP12	NM_005100.4(AKAP12):c.4787_4789AAG[1]:p.Glu1597del	coding	Benign
6	151421320	GC	G	C151421322T	RMND1	NM_017909.3(RMND1):c.1003del:p.Ala335Leufs	coding	Pathogenic
6	151423605	TC	T	C151423611T	RMND1	NM_017909.4(RMND1):c.856del:p.Glu286fs	coding	Pathogenic
6	151436894	A	AATG	T151436898A	RMND1	NM_017909.4(RMND1):c.505-343_505-341dup	noncoding	Benign
6	151445326	TG	T	G151445328A	RMND1	NM_017909.4(RMND1):c.485del:p.Pro162fs	coding	Pathogenic
6	152061094	TG	GC	T152061094G	ESR1	NM_000125.3(ESR1):c.1339_1340delinsGC:p.Cys447Ala	coding	Pathogenic
6	152121768	CTT	C	T152121778A	SYNE1	NM_182961.4(SYNE1):c.*666_*667del	noncoding	Benign
6	152139913	CTGTT	C	T152139917C	SYNE1	NM_182961.4(SYNE1):c.25458+33_25458+36del	noncoding	Benign
6	152143762	TC	T	C152143766T	SYNE1	NM_182961.3(SYNE1):c.24979del:p.Asp8327Thrfs	coding	Pathogenic
6	152176528	CT	C	T152176529C	SYNE1	NM_182961.4(SYNE1):c.23492del:p.Glu7831fs	coding	Pathogenic
6	152201869	GAGAGACTGCGAAAGCTTCTTTTTGAAAGT	G	A152201870T	SYNE1	NM_182961.4(SYNE1):c.23071_23099del:p.Thr7691fs	coding	Pathogenic
6	152206185	G	GT	C152206192T	SYNE1	NM_182961.4(SYNE1):c.23001dup:p.Leu7668fs	coding	Pathogenic
6	152208032	ACTCATGGGGAGGTAGGACACTTCAACCAACCATTTACGAAGCTTTTCTGCCATCT	A	T152208034C	SYNE1	NM_182961.4(SYNE1):c.22709_22763del:p.Glu7570fs	coding	Pathogenic/Likely_pathogenic
6	152231459	CA	C	A152231460G	SYNE1	NM_182961.4(SYNE1):c.20970del:p.Asp6991fs	coding	Pathogenic
6	152231569	T	TA	G152231579A	SYNE1	NM_033071.3(SYNE1):c.20650-3dupT	noncoding	Benign/Likely_benign
6	152236976	T	TA	C152236984A	SYNE1	NM_182961.4(SYNE1):c.20068-35dup	noncoding	Benign/Likely_benign
6	152249218	G	GT	A152249220T	SYNE1	NM_182961.4(SYNE1):c.19514dup:p.Tyr6505Ter	coding	Pathogenic
6	152268129	GGA	G	G152268132C	SYNE1	NM_182961.4(SYNE1):c.18738_18739TC[1]:p.Leu6247fs	coding	Pathogenic
6	152293989	GCAAAT	G	A152293992C	SYNE1	NM_182961.4(SYNE1):c.17816_17820del:p.Asp5939fs	coding	Pathogenic
6	152308637	GAA	G	A152308650C	SYNE1	NM_182961.4(SYNE1):c.17203-7_17203-6del	noncoding	Benign/Likely_benign
6	152308637	GA	G	A152308651C	SYNE1	NM_182961.4(SYNE1):c.17203-6del	noncoding	Benign
6	152308637	G	GAA	C152308652A	SYNE1	NM_182961.4(SYNE1):c.17203-19_17203-18dup	noncoding	Benign
6	152308637	G	GA	C152308652A	SYNE1	NM_033071.3(SYNE1):c.16994-10dupT	noncoding	Benign
6	152320997	C	CA	T152320998A	SYNE1	NM_182961.4(SYNE1):c.16236+240_16236+241insT	noncoding	Benign
6	152321381	TTAGGAGAA	T	A152321383C	SYNE1	NM_182961.4(SYNE1):c.16085_16092del:p.Ile5362fs	coding	Pathogenic
6	152330823	G	GT	A152330825T	SYNE1	NM_182961.4(SYNE1):c.13861dup:p.Thr4621fs	coding	Pathogenic
6	152331385	CG	C	G152331386T	SYNE1	NM_182961.4(SYNE1):c.13299del:p.His4433fs	coding	Pathogenic
6	152347226	CCA	C	C152347227T	SYNE1	NM_182961.4(SYNE1):c.11909_11910del:p.Met3970fs	coding	Pathogenic
6	152350784	G	GA	T152350794A	SYNE1	NM_182961.4(SYNE1):c.11581-23dup	noncoding	Benign
6	152365018	GC	G	C152365020T	SYNE1	NM_182961.3(SYNE1):c.9973delG:p.Ala3325Leufs	coding	Pathogenic
6	152381129	CA	C	A152381130C	SYNE1	NM_182961.4(SYNE1):c.8885del:p.Val2962fs	coding	Pathogenic
6	152385689	CT	C	T152385694C	SYNE1	NM_182961.4(SYNE1):c.8636del:p.Lys2879fs	coding	Pathogenic
6	152401289	TC	T	C152401290A	SYNE1	NM_182961.4(SYNE1):c.6877del:p.Glu2293fs	coding	Pathogenic
6	152413686	A	AG	T152413688G	SYNE1	NM_182961.4(SYNE1):c.6051-156dup	noncoding	Benign
6	152428196	GCTGCTCACCT	G	T152428201C	SYNE1	NM_182961.4(SYNE1):c.4975_4976+8del	noncoding	Pathogenic
6	152430083	ATAG	A	T152430087A	SYNE1	NM_182961.4(SYNE1):c.4788+26_4788+28del	noncoding	Benign/Likely_benign
6	152433882	CAG	C	A152433885T	SYNE1	NM_182961.4(SYNE1):c.4370_4371CT[1]:p.Leu1458fs	coding	Pathogenic
6	152442240	CT	C	T152442244G	SYNE1	NM_182961.4(SYNE1):c.3842del:p.Lys1281fs	coding	Pathogenic
6	152449536	AAC	A	A152449537G	SYNE1	NM_182961.4(SYNE1):c.3499_3500del:p.Ala1166_Val1167insTer	coding	Pathogenic
6	152472394	TC	T	C152472396G	SYNE1	NM_182961.4(SYNE1):c.1369del:p.Asp457fs	coding	Pathogenic
6	152483214	AAG	A	G152483218T	SYNE1	NM_182961.4(SYNE1):c.1217_1218CT[1]:p.Leu407fs	coding	Pathogenic
6	152488727	A	ATT	G152488738T	SYNE1	NM_182961.4(SYNE1):c.940-234_940-233dup	noncoding	Benign
6	152505339	GA	G	A152505342G	SYNE1	NM_182961.4(SYNE1):c.639del:p.His214fs	coding	Pathogenic
6	152510290	CAG	C	A152510293C	SYNE1	NM_182961.4(SYNE1):c.480_481CT[1]:p.Ser160_Ser161insTer	coding	Pathogenic/Likely_pathogenic
6	156777992	CGAGGCGGCTCT	C	G156777993C	ARID1B;LOC115308161	NM_001374828.1(ARID1B):c.313_323del:p.Glu105fs	coding	Pathogenic
6	156778052	CGCGGCGGCA	C	G156778062T	ARID1B	NM_017519.2(ARID1B):c.124_132GCGGCGGCA[1]:p.Ala45_Ala47del	coding	Benign
6	156778178	GCAC	G	C156778193T	ARID1B	NM_017519.2(ARID1B):c.252_254CCA[4]:p.His89del	coding	Benign
6	156778268	CCAG	C	G156778289A	ARID1B	NM_017519.2(ARID1B):c.342_344GCA[6]:p.Gln131del	coding	Benign
6	156778268	C	CCAG	A156778292G	ARID1B	NM_017519.2(ARID1B):c.342_344GCA[8]:p.Gln131dup	coding	Benign/Likely_benign
6	156778268	C	CCAGCAG	A156778292G	ARID1B	NM_001374828.1(ARID1B):c.591_593GCA[9]:p.Gln213_Gln214dup	coding	Benign
6	156778292	A	ACAG	A156778316G	ARID1B	NM_017519.2(ARID1B):c.366_368GCA[8]:p.Gln131dup	coding	Benign
6	156778292	A	ACAGCAG	A156778316G	ARID1B	NM_017519.2(ARID1B):c.366_368GCA[9]:p.Gln130_Gln131dup	coding	Benign/Likely_benign
6	156778292	ACAG	A	G156778313A	ARID1B	NM_017519.2(ARID1B):c.366_368GCA[6]:p.Gln131del	coding	Benign/Likely_benign
6	156778640	T	TGCCCCTGCGAGCGGCG	G156778662T	ARID1B	NM_001374828.1(ARID1B):c.966_981dup:p.Gly328fs	coding	Pathogenic
6	156778646	TGCGAGCGGCGGCC	G	T156778646G	ARID1B	NM_017519.2(ARID1B):c.717_730delinsG:p.Ala240fs	coding	Pathogenic
6	156778847	GGGC	G	C156778871A	ARID1B	NM_017519.2(ARID1B):c.921_923CGG[7]:p.Gly319del	coding	Benign
6	156778847	G	GGGC	A156778874C	ARID1B	NM_017519.2(ARID1B):c.921_923CGG[9]:p.Gly319dup	coding	Benign/Likely_benign
6	156778871	CGGA	C	A156778883C	ARID1B	NM_017519.2(ARID1B):c.945_947AGG[3]:p.Gly319del	coding	Benign
6	156778889	CGGA	C	G156778912C	ARID1B	NM_017519.2(ARID1B):c.962_964GAG[7]:p.Gly328del	coding	Benign
6	156778889	CGGAGGA	C	G156778909C	ARID1B	NM_017519.2(ARID1B):c.962_964GAG[6]:p.Gly327_Gly328del	coding	Benign/Likely_benign
6	156778958	CGCGGCGGCGGCGGCAGCAGCAGGAGGCG	C	A156778973T	ARID1B	NM_017519.2(ARID1B):c.1044_1071del:p.Ala349fs	coding	Pathogenic
6	156778960	CGGCGGCGGCGGCAGCAGCAGGA	C	A156778973G	ARID1B	NM_001374828.1(ARID1B):c.1293_1314del:p.Gly434fs	coding	Pathogenic
6	156778963	CGGCGGCGGCAGCAGCAGGA	C	A156778973G	ARID1B	NM_001374828.1(ARID1B):c.1293_1311del:p.Gly434fs	coding	Pathogenic
6	156779003	T	TG	C156779009G	ARID1B	NM_017519.2(ARID1B):c.1079dup:p.Ser361fs	coding	Pathogenic
6	156779125	C	CG	C156779132G	ARID1B	NM_001374828.1(ARID1B):c.1451dup:p.Phe485fs	coding	Pathogenic
6	156779125	CG	C	G156779131C	ARID1B	NM_017519.2(ARID1B):c.1202del:p.Gly401fs	coding	Pathogenic
6	156779167	CG	C	G156779172C	ARID1B	NM_001374828.1(ARID1B):c.1492del:p.Ala498fs	coding	Pathogenic
6	156779172	GC	G	C156779174A	ARID1B	NM_017519.2(ARID1B):c.1245del:p.Thr416fs	coding	Pathogenic
6	156779186	CA	C	A156779188T	ARID1B	NM_001374828.1(ARID1B):c.1508del:p.Asn503fs	coding	Pathogenic
6	156779227	ACGGCGGCAGCTACCCCGAGTACAGCAGCCCCAGCGCGCCGC	A	G156779230C	ARID1B	NM_017519.2(ARID1B):c.1301_1341del:p.Gly434fs	coding	Pathogenic
6	156779239	AC	A	C156779243G	ARID1B	NM_001374828.1(ARID1B):c.1563del:p.Glu522fs	coding	Pathogenic
6	156779254	GC	G	C156779258A	ARID1B	NM_001374828.1(ARID1B):c.1578del:p.Ser527fs	coding	Pathogenic
6	156779262	G	GCGC	T156779280C	ARID1B	NM_017519.2(ARID1B):c.1336_1338CCG[6]:p.Pro450dup	coding	Benign
6	156779310	GGGGCGGCGGC	G	G156779318C	ARID1B	NM_001374828.1(ARID1B):c.1638_1647del:p.Ala547fs	coding	Pathogenic
6	156779310	G	GGGGCGGCGGC	C156779328G	ARID1B	NM_017519.2(ARID1B):c.1389_1398dup:p.Gln467fs	coding	Pathogenic
6	156779318	GGCGGGCGGCCA	G	G156779321A	ARID1B	NM_017519.2(ARID1B):c.1392_1402del:p.Gln467fs	coding	Pathogenic
6	156779318	G	GGCGGGCGGCCA	A156779332G	ARID1B	NM_017519.2(ARID1B):c.1392_1402dup:p.Gln468fs	coding	Pathogenic
6	156779321	GGGCGGCCAGCA	G	A156779329G	ARID1B	NM_017519.2(ARID1B):c.1400_1410del:p.Gln467fs	coding	Pathogenic
6	156779370	GC	G	C156779373A	ARID1B	NM_001374828.1(ARID1B):c.1693del:p.Gln565fs	coding	Pathogenic
6	156779397	T	TGGGCGGCCGCGCAACAAAGG	A156779418G	ARID1B	NM_017519.2(ARID1B):c.1469_1488dup:p.Ser497fs	coding	Pathogenic
6	156779442	AC	A	C156779447G	ARID1B	NM_001374828.1(ARID1B):c.1767del:p.Gly590fs	coding	Pathogenic
6	156779452	C	CGA	C156779455G	ARID1B	NM_017519.2(ARID1B):c.1524_1525dup:p.Thr509fs	coding	Pathogenic
6	156901427	CAACAGCCATAT	C	A156901428T	ARID1B	NM_001374828.1(ARID1B):c.2039_2049del:p.Gln680fs	coding	Pathogenic
6	156901439	T	TAA	C156901441A	ARID1B	NM_001374828.1(ARID1B):c.2051_2052insAA:p.Tyr684Ter	coding	Pathogenic
6	156901439	T	TA	C156901441A	ARID1B	NM_017519.2(ARID1B):c.1802dup:p.Tyr601Ter	coding	Pathogenic
6	156901497	A	AG	T156901499G	ARID1B	NM_020732.3(ARID1B):c.1899dup:p.Ser634fs	coding	Pathogenic
6	156935454	G	GT	A156935464T	ARID1B	NM_017519.2(ARID1B):c.1888-3dup	noncoding	Benign
6	156935530	A	ATGAAGACT	C156935543G	ARID1B	NM_001374828.1(ARID1B):c.2206_2213dup:p.Asn738delinsLysThrTer	coding	Pathogenic
6	157084695	GGA	G	G157084696A	ARID1B	NM_001374828.1(ARID1B):c.2282_2283del:p.Gly761fs	coding	Pathogenic
6	157084736	GT	G	T157084737C	ARID1B	NM_001374828.1(ARID1B):c.2323del:p.Ser775fs	coding	Pathogenic
6	157084797	T	TCC	T157084802C	ARID1B	NM_001363725.2(ARID1B):c.-114_-113dup	coding	Pathogenic
6	157084813	GC	G	C157084814A	ARID1B	NM_020732.3(ARID1B):c.2190del:p.Ser730fs	coding	Pathogenic
6	157084819	C	CG	C157084826G	ARID1B	NM_001363725.2(ARID1B):c.-89dup	coding	Pathogenic
6	157084824	GG	T	G157084824T	ARID1B	NM_001363725.2(ARID1B):c.-90_-89delinsT	coding	Pathogenic
6	157084879	G	GC	A157084883C	ARID1B	NM_001363725.2(ARID1B):c.-32dup	coding	Pathogenic
6	157110475	GT	G	T157110476C	ARID1B	NM_001374828.1(ARID1B):c.2496del:p.Gln833fs	coding	Pathogenic
6	157110496	CCG	TCCGCAGCCACTCC	C157110496T	ARID1B	NM_017519.2(ARID1B):c.2267_2269delinsTCCGCAGCCACTCC:p.Pro756fs	coding	Pathogenic
6	157133045	CAAAG	C	G157133049C	ARID1B	NM_001346813.1(ARID1B):c.2354_2357del:p.Arg785fs	coding	Pathogenic/Likely_pathogenic
6	157133116	T	TG	C157133122G	ARID1B	NM_020732.3(ARID1B):c.2465dup:p.Gln823fs	coding	Pathogenic
6	157133121	G	GC	A157133124C	ARID1B	NM_001374828.1(ARID1B):c.2677dup:p.Gln893fs	coding	Pathogenic
6	157148747	GT	G	T157148748G	ARID1B	NM_001374828.1(ARID1B):c.2886del:p.Ala963fs	coding	Pathogenic
6	157148899	C	CA	G157148901A	ARID1B	NM_017519.2(ARID1B):c.2789dup:p.Glu931fs	coding	Pathogenic
6	157148903	A	AG	C157148906G	ARID1B	NM_001374828.1(ARID1B):c.3043dup:p.Ala1015fs	coding	Pathogenic
6	157167103	GC	G	C157167106A	ARID1B	NM_017519.2(ARID1B):c.2907del:p.Pro969_Met970insTer	coding	Pathogenic
6	157167174	A	ACAGCT	G157167181A	ARID1B	NM_017519.2(ARID1B):c.2977_2981dup:p.Ala996fs	coding	Pathogenic
6	157167177	GCTCGGCAGGTAAC	G	C157167180T	ARID1B	NM_017519.2(ARID1B):c.2981_2986+7del	coding	Pathogenic
6	157174033	G	GGA	T157174034G	ARID1B	NM_020732.3(ARID1B):c.3051_3052insGA:p.Ser1018fs	coding	Pathogenic
6	157174082	G	GA	G157174085A	ARID1B	NM_001374828.1(ARID1B):c.3312dup:p.Glu1105fs	coding	Pathogenic
6	157181039	GAA	G	A157181041G	ARID1B	NM_017519.2(ARID1B):c.3169_3170del:p.Lys1057fs	coding	Pathogenic
6	157181045	TCTGG	CAGA	T157181045C	ARID1B	NM_017519.2(ARID1B):c.3173_3177delinsCAGA:p.Leu1058fs	coding	Pathogenic
6	157181139	ACT	A	C157181142A	ARID1B	NM_017519.2(ARID1B):c.3268_3269CT[1]:p.Tyr1091fs	coding	Pathogenic
6	157181154	CAA	C	A157181156G	ARID1B	NM_017519.2(ARID1B):c.3284_3285del:p.Lys1095fs	coding	Pathogenic
6	157181171	TG	T	G157181173C	ARID1B	NM_001374828.1(ARID1B):c.3709del:p.Ala1237fs	coding	Pathogenic
6	157184233	TAATA	T	T157184236A	ARID1B	NM_001374828.1(ARID1B):c.3720_3723del:p.Asn1240fs	coding	Pathogenic
6	157184261	GC	G	C157184262A	ARID1B	NM_017519.2(ARID1B):c.3338del:p.Ala1113fs	coding	Pathogenic
6	157184308	GA	G	A157184313G	ARID1B	NM_017519.2(ARID1B):c.3389del:p.Lys1130fs	coding	Pathogenic
6	157184332	GT	G	T157184335G	ARID1B	NM_020732.3(ARID1B):c.3450del:p.Phe1150fs	coding	Pathogenic
6	157184401	CAA	C	A157184405G	ARID1B	NM_017519.2(ARID1B):c.3481_3482del:p.Lys1161fs	coding	Pathogenic
6	157184431	TC	T	C157184433T	ARID1B	NM_017519.2(ARID1B):c.3509del:p.Pro1170fs	coding	Pathogenic
6	157189671	A	AC	A157189678C	ARID1B	NM_001374828.1(ARID1B):c.3955dup:p.Gln1319fs	coding	Pathogenic/Likely_pathogenic
6	157189686	GGC	G	G157189687A	ARID1B	NM_017519.2(ARID1B):c.3557_3558del:p.Gly1186fs	coding	Pathogenic
6	157189701	GC	A	G157189701A	ARID1B	NM_001374828.1(ARID1B):c.3979_3980delinsA:p.Ala1327fs	coding	Pathogenic
6	157189721	G	GA	G157189724A	ARID1B	NM_017519.2(ARID1B):c.3593dup:p.Pro1199fs	coding	Pathogenic
6	157189749	C	CA	C157189751A	ARID1B	NM_001374828.1(ARID1B):c.4028dup:p.His1343fs	coding	Pathogenic
6	157189770	CA	C	A157189772G	ARID1B	NM_001374828.1(ARID1B):c.4050del:p.Gly1351fs	coding	Pathogenic
6	157190045	ACAAT	A	A157190048G	ARID1B	NM_001374828.1(ARID1B):c.4069_4072del:p.Ile1357fs	coding	Pathogenic
6	157190062	CCCATT	C	C157190064T	ARID1B	NM_001374828.1(ARID1B):c.4085_4089del:p.Pro1362fs	coding	Pathogenic
6	157190078	AGT	A	T157190080A	ARID1B	NM_001374828.1(ARID1B):c.4101_4102del:p.Ser1367fs	coding	Pathogenic
6	157190120	G	GC	T157190126C	ARID1B	NM_001374828.1(ARID1B):c.4146dup:p.Tyr1383fs	coding	Pathogenic
6	157190126	TAC	AG	T157190126A	ARID1B	NM_017519.2(ARID1B):c.3739_3741delinsAG:p.Tyr1247fs	coding	Pathogenic
6	157190187	A	AC	T157190192C	ARID1B	NM_017519.2(ARID1B):c.3804dup:p.Phe1269fs	coding	Pathogenic
6	157196194	CA	C	A157196196G	ARID1B	NM_001374828.1(ARID1B):c.4263del:p.Gly1422fs	coding	Pathogenic
6	157196232	CA	C	A157196234C	ARID1B	NM_001374828.1(ARID1B):c.4301del:p.Asn1434fs	coding	Pathogenic
6	157200737	GC	G	C157200742A	ARID1B	NM_001374828.1(ARID1B):c.4517del:p.Pro1506fs	coding	Pathogenic
6	157200744	GC	G	C157200746A	ARID1B	NM_017519.2(ARID1B):c.4113del:p.Lys1372fs	coding	Pathogenic
6	157200764	CAT	C	A157200765G	ARID1B	NM_020732.3(ARID1B):c.4171_4172del:p.Met1391fs	coding	Pathogenic
6	157200866	G	GT	A157200868T	ARID1B	NM_017519.2(ARID1B):c.4234dup:p.Tyr1412fs	coding	Pathogenic
6	157200885	A	AGGATGCAG	C157200896A	ARID1B	NM_001374828.1(ARID1B):c.4663_4670dup:p.Pro1558fs	coding	Pathogenic
6	157200915	C	CA	C157200917A	ARID1B	NM_017519.2(ARID1B):c.4283dup:p.His1428fs	coding	Pathogenic
6	157200957	TC	T	C157200959T	ARID1B	NM_017519.2(ARID1B):c.4326del:p.Ser1443fs	coding	Pathogenic
6	157200967	AG	A	G157200971C	ARID1B	NM_020732.3(ARID1B):c.4377del:p.Pro1460fs	coding	Pathogenic
6	157201212	TACCAGACGCC	T	A157201216G	ARID1B	NM_017519.2(ARID1B):c.4583_4592del:p.Gln1528fs	coding	Pathogenic
6	157201294	TG	AGT	T157201294A	ARID1B	NM_017519.2(ARID1B):c.4661_4662delinsAGT:p.Met1554fs	coding	Pathogenic
6	157201465	GAAAGATTACCTCC	G	T157201472A	ARID1B	NM_017519.2(ARID1B):c.4839_4851del:p.Thr1614fs	coding	Pathogenic
6	157201481	A	AG	A157201483G	ARID1B	NM_017519.2(ARID1B):c.4849dup:p.Asp1617fs	coding	Pathogenic
6	157201482	GA	G	A157201483T	ARID1B	NM_017519.2(ARID1B):c.4850del:p.Asp1617fs	coding	Pathogenic
6	157203873	TG	T	G157203874A	ARID1B	NM_017519.2(ARID1B):c.4864del:p.Glu1622fs	coding	Pathogenic
6	157203882	G	GC	G157203884C	ARID1B	NM_001374828.1(ARID1B):c.5281dup:p.Arg1761fs	coding	Pathogenic
6	157203916	GC	G	C157203917T	ARID1B	NM_001374828.1(ARID1B):c.5315del:p.Ala1772fs	coding	Pathogenic
6	157206196	G	GT	A157206198T	ARID1B	NM_020732.3(ARID1B):c.5056dup:p.Tyr1686fs	coding	Pathogenic
6	157206239	GA	G	A157206241T	ARID1B	NM_017519.2(ARID1B):c.5061del:p.Glu1687fs	coding	Pathogenic
6	157206290	AG	A	G157206292A	ARID1B	NM_020732.3(ARID1B):c.5151del:p.Lys1718fs	coding	Pathogenic
6	157206292	GA	G	A157206294G	ARID1B	NM_020732.3(ARID1B):c.5153del:p.Lys1718fs	coding	Pathogenic
6	157206358	TGAC	T	C157206364G	ARID1B	NM_017519.2(ARID1B):c.5181_5183CGA[1]:p.Asp1728del	coding	Benign
6	157206517	CA	C	A157206522G	ARID1B	NM_001374828.1(ARID1B):c.5750del:p.Lys1917fs	coding	Pathogenic
6	157206530	CTGTT	C	T157206535G	ARID1B	NM_017519.2(ARID1B):c.5351_5354TGTT[1]:p.Phe1785fs	coding	Pathogenic/Likely_pathogenic
6	157206552	AC	A	C157206553A	ARID1B	NM_001374828.1(ARID1B):c.5781del:p.Asp1927fs	coding	Pathogenic
6	157206682	T	TC	T157206689C	ARID1B	NM_017519.2(ARID1B):c.5508dup:p.Ser1838fs	coding	Pathogenic
6	157206703	TAGAA	T	A157206711G	ARID1B	NM_017519.2(ARID1B):c.5527_5530AAGA[1]:p.Lys1844fs	coding	Pathogenic
6	157206724	C	CA	G157206728A	ARID1B	NM_017519.2(ARID1B):c.5547dup:p.Gly1850fs	coding	Pathogenic
6	157206772	CG	C	G157206773A	ARID1B	NM_017519.2(ARID1B):c.5593del:p.Asp1865fs	coding	Pathogenic
6	157206843	G	GT	A157206845T	ARID1B	NM_017519.2(ARID1B):c.5664dup:p.Lys1889Ter	coding	Pathogenic
6	157206912	GGAGCC	G	C157206916A	ARID1B	NM_001374828.1(ARID1B):c.6144_6148del:p.Ser2048fs	coding	Pathogenic
6	157206963	TG	T	G157206965C	ARID1B	NM_001374828.1(ARID1B):c.6193del:p.Ala2065fs	coding	Pathogenic
6	157207079	CT	C	T157207081C	ARID1B	NM_001374828.1(ARID1B):c.6309del:p.Leu2104fs	coding	Pathogenic
6	157207104	GAA	G	A157207106G	ARID1B	NM_017519.2(ARID1B):c.5926_5927del:p.Lys1976fs	coding	Pathogenic
6	157207261	CACGGAAAGCA	GACTTG	C157207261G	ARID1B	NM_017519.2(ARID1B):c.6081_6091delinsGACTTG:p.Tyr2027_Ile2031delinsTer	coding	Pathogenic
6	157207376	CAG	C	G157207380C	ARID1B	NM_001374828.1(ARID1B):c.6608_6609del:p.Arg2203fs	coding	Pathogenic
6	157207393	G	GACCCTCTGTAAACTCAGTATCCAGGACA	T157207423C	ARID1B	NM_017519.2(ARID1B):c.6215_6242dup:p.Asn2082_Val2083insProLeuTer	coding	Pathogenic
6	157207394	ACC	A	C157207396T	ARID1B	NM_017519.2(ARID1B):c.6216_6217del:p.Leu2073_Cys2074insTer	coding	Pathogenic
6	157207498	TG	T	G157207502A	ARID1B	NM_001374828.1(ARID1B):c.6730del:p.Asp2244fs	coding	Pathogenic
6	157207594	GC	G	C157207595A	ARID1B	NM_001374828.1(ARID1B):c.6823del:p.Gln2275fs	coding	Pathogenic
6	157207602	GAAGCATTGGAA	G	A157207604C	ARID1B	NM_017519.2(ARID1B):c.6424_6434del:p.Ser2142fs	coding	Pathogenic
6	157207633	GGATGGGGTCAC	G	G157207639C	ARID1B	NM_017519.2(ARID1B):c.6459_6469del:p.Val2154fs	coding	Pathogenic
6	157207667	CA	C	A157207668G	ARID1B	NM_001374828.1(ARID1B):c.6896del:p.Gln2299fs	coding	Pathogenic
6	157207669	G	GC	A157207671C	ARID1B	NM_001374828.1(ARID1B):c.6898dup:p.His2300fs	coding	Pathogenic
6	157207768	CGAAAACCGCTCGGAATTCCTTTT	C	A157207770C	ARID1B	NM_017519.2(ARID1B):c.6590_6612del:p.Glu2197fs	coding	Pathogenic
6	157207840	TC	T	C157207841T	ARID1B	NM_017519.2(ARID1B):c.6661del:p.Leu2221fs	coding	Pathogenic
6	158114826	A	AAGAT	C158114833A	SERAC1	NM_032861.4(SERAC1):c.1643_1646dup:p.Leu550fs	coding	Pathogenic
6	158114843	C	CAG	T158114848A	SERAC1	NM_032861.4(SERAC1):c.1626_1627CT[3]:p.Val544fs	coding	Pathogenic
6	158116197	G	GT	G158116199T	SERAC1	NM_032861.4(SERAC1):c.1488dup:p.His497fs	coding	Pathogenic
6	158116248	TAAG	T	A158116252T	SERAC1	NM_032861.4(SERAC1):c.1432_1434CTT[1]:p.Leu479del	coding	Pathogenic
6	158117779	C	CAGAT	T158117785G	SERAC1	NM_032861.4(SERAC1):c.1347_1350dup:p.Val451fs	coding	Pathogenic
6	158119166	GCTGA	G	G158119169A	SERAC1	NM_032861.3(SERAC1):c.1167_1170del:p.Gln390Profs	coding	Pathogenic
6	158120591	CATATCCTAAATACTG	C	A158120594G	SERAC1	NM_032861.4(SERAC1):c.1016-31_1016-17del	noncoding	Benign
6	158146830	TG	T	G158146832T	SERAC1	NM_032861.4(SERAC1):c.438del:p.Thr147fs	coding	Pathogenic
6	158150489	C	CAT	G158150500A	SERAC1	NM_032861.4(SERAC1):c.219_220AT[6]:p.Val77fs	coding	Pathogenic
6	158787209	TGA	T	A158787221G	EZR	NM_001111077.2(EZR):c.97-18TC[5]	noncoding	Benign
6	158978308	CTTCA	C	C158978315A	RSPH3	NM_031924.8(RSPH3):c.894_897del:p.Asn298fs	coding	Pathogenic
6	158980808	CCT	C	C158980809G	RSPH3	NM_031924.8(RSPH3):c.823_824del:p.Arg275fs	coding	Pathogenic
6	158999753	CCA	C	C158999756G	RSPH3	NM_031924.8(RSPH3):c.-207TG[1]	coding	Pathogenic
6	160139865	CTGGTAAGT	C	G160139876T	SLC22A1	NM_003057.3(SLC22A1):c.1276+9_1276+16del	coding	Benign
6	160716662	TGAA	T	G160716669T	PLG	NM_000301.3(PLG):c.687_689GAA[2]:p.Lys231del	coding	Pathogenic
6	160741416	AG	A	G160741418T	PLG	NM_000301.3(PLG):c.2125+1del	coding	Pathogenic
6	162262560	TCAGTGTGCAGAATGACAGCCAGCCCCACAGAGTCTCCTGG	T	C162262561G	PRKN	NM_004562.3(PRKN):c.337_376del:p.Pro113fs	coding	Pathogenic
6	162262715	C	CCA	G162262719A	PRKN	NM_004562.3(PRKN):c.220_221dup:p.Trp74fs	coding	Pathogenic
6	162443325	AT	A	T162443327C	PRKN	NM_004562.3(PRKN):c.155del:p.Asn52fs	coding	Pathogenic
6	162443378	CCT	C	C162443379G	PRKN	NM_004562.3(PRKN):c.101_102del:p.Gln34fs	coding	Pathogenic
6	162443379	CT	C	T162443380G	PRKN	NM_004562.3(PRKN):c.101del:p.Gln34fs	coding	Pathogenic
6	166956118	CCCAGGCAAAGCAACG	C	A166956126G	RNASET2	NM_003730.6(RNASET2):c.50_64del:p.Ala17_Leu21del	coding	Pathogenic
6	170283233	CCT	C	C170283234G	DLL1	NM_005618.4(DLL1):c.2044_2045del:p.Arg682fs	coding	Pathogenic
6	170283264	CCT	C	C170283265G	DLL1	NM_005618.4(DLL1):c.2013_2014del:p.Glu673fs	coding	Pathogenic
6	170283474	ATGT	A	T170283475C	DLL1	NM_005618.4(DLL1):c.1802_1804del:p.Asp601_Ile602delinsVal	coding	Benign
6	170288307	TG	T	G170288309C	DLL1	NM_005618.4(DLL1):c.601del:p.His201fs	coding	Pathogenic
6	170289710	TG	T	G170289712C	DLL1	NM_005618.4(DLL1):c.152del:p.Pro51fs	coding	Pathogenic
6	170289814	CG	C	G170289819A	DLL1	NM_005618.4(DLL1):c.55-7del	noncoding	Benign
6	170561949	GCAA	G	A170561952G	TBP	NM_003194.5(TBP):c.216_218del:p.Gln95del	coding	Benign
6	170561958	ACAG	A	G170562015A	TBP	NM_003194.5(TBP):c.225_227GCA[18]:p.Gln95del	coding	Benign
6	170561958	ACAGCAGCAG	A	G170562009A	TBP	NM_003194.5(TBP):c.225_227GCA[16]:p.Gln93_Gln95del	coding	Benign
6	170561963	AGC	A	G170561964A	TBP	NM_003194.5(TBP):c.228_229del:p.Gln77fs	coding	Benign
7	246502	G	GGACAGGTGAGCCCTTCCTTCCTCCCTCCATCCGC	C246538A	FAM20C	NM_020223.4(FAM20C):c.953_956+30dup	coding	Benign
7	726770	A	AG	C726776G	DNAAF5	NM_017802.4(DNAAF5):c.55dup:p.Ala19fs	coding	Pathogenic
7	726965	TG	T	G726966C	DNAAF5	NM_017802.4(DNAAF5):c.246del:p.Arg83fs	coding	Pathogenic
7	727076	CCGCGCTCGCCG	C	C727083T	DNAAF5	NM_017802.4(DNAAF5):c.363_373del:p.Ala122fs	coding	Pathogenic
7	727208	ACCTGGACGAC	A	C727209G	DNAAF5	NM_017802.4(DNAAF5):c.489_498del:p.His163fs	coding	Pathogenic
7	774129	GGCCATCCGCACGGCT	ATGGCC	G774129A	DNAAF5	NM_017802.4(DNAAF5):c.2013_2028delinsATGGCC:p.Ala672fs	coding	Pathogenic
7	774202	CG	C	G774206C	DNAAF5	NM_017802.4(DNAAF5):c.2082+8del	noncoding	Benign/Likely_benign
7	775031	TGCCCCA	CCACCCTGGGT	T775031C	DNAAF5	NM_017802.4(DNAAF5):c.2108_2114delinsCCACCCTGGGT:p.Met703fs	coding	Pathogenic
7	780063	CAG	C	A780066C	DNAAF5	NM_017802.4(DNAAF5):c.2351_2352AG[1]:p.Ser785fs	coding	Pathogenic
7	1471648	CAGAG	C	A1471653G	INTS1	NM_001080453.3(INTS1):c.6185-15CT[2]	noncoding	Benign
7	1476051	C	CG	C1476054G	INTS1	NM_001080453.3(INTS1):c.5398dup:p.Arg1800fs	coding	Pathogenic
7	1547017	A	AGCC	T1547026C	TMEM184A	NM_001097620.2(TMEM184A):c.1171_1173GGC[3]:p.Gly392dup	coding	Benign
7	2513247	AGATG	A	G2513272A	LFNG	NM_001166355.1(LFNG):c.139_142GATG[6]:p.Asp55fs	coding	Benign
7	2520232	AG	A	G2520233T	LFNG	NM_001040167.2(LFNG):c.372del:p.Lys124fs	coding	Pathogenic
7	2538406	TCAAA	T	A2538410G	BRAT1	NM_152743.4(BRAT1):c.2125_2128del:p.Phe709fs	coding	Pathogenic/Likely_pathogenic
7	2538603	TC	CT	T2538603C	BRAT1	NM_152743.4(BRAT1):c.1931_1932delinsAG:p.Arg644Gln	coding	Benign
7	2539577	CGAGGGCGGAGTCCCTCACCTC	GA	C2539577G	BRAT1	NM_152743.4(BRAT1):c.1543_1564delinsTC:p.Glu515fs	coding	Pathogenic
7	2539791	AG	A	G2539793A	BRAT1	NM_152743.4(BRAT1):c.1492del:p.Leu498fs	coding	Pathogenic
7	2541304	CCT	C	C2541305G	BRAT1	NM_152743.4(BRAT1):c.1313_1314del:p.Gln438fs	coding	Pathogenic
7	2541414	TCA	T	C2541417G	BRAT1	NM_152743.4(BRAT1):c.1201_1202TG[1]:p.Cys401_Asp402delinsTer	coding	Pathogenic
7	2541441	GC	G	C2541446A	BRAT1	NM_152743.4(BRAT1):c.1177del:p.Ala393fs	coding	Pathogenic
7	2542121	T	TG	T2542127G	BRAT1	NM_152743.4(BRAT1):c.1013dup:p.Gly339fs	coding	Pathogenic
7	2542171	GGA	G	G2542174A	BRAT1	NM_152743.4(BRAT1):c.960_961TC[1]:p.Leu321fs	coding	Pathogenic
7	2543754	C	CT	G2543757T	BRAT1	NM_152743.4(BRAT1):c.638dup:p.Val214fs	coding	Pathogenic
7	2543939	G	GATCTTCTC	G2543940A	BRAT1	NM_152743.4(BRAT1):c.453_454insGAGAAGAT:p.Leu152fs	coding	Pathogenic
7	2544933	CGCTGGGGT	C	G2544938T	BRAT1	NM_152743.4(BRAT1):c.398_405del:p.His133fs	coding	Pathogenic
7	2545044	G	GT	A2545046T	BRAT1	NM_152743.4(BRAT1):c.294dup:p.Leu99fs	coding	Pathogenic
7	2547434	GC	G	C2547435T	BRAT1	NM_152743.4(BRAT1):c.171del:p.Glu57fs	coding	Pathogenic
7	2586272	TTGTCCCGGAG	T	C2586278A	IQCE	NM_152558.5(IQCE):c.895_904del:p.Val301fs	coding	Pathogenic
7	2594883	TAGAG	T	A2594886G	IQCE	NM_152558.5(IQCE):c.1350_1353del:p.Glu451Argfs	noncoding	Pathogenic
7	2709063	ATC	A	T2709070C	AMZ1	NM_133463.3(AMZ1):c.602-11TC[3]	noncoding	Benign
7	4781213	GGAT	TGCTGTAAACTGTAACTGTAAA	G4781213T	AP5Z1	NM_014855.3(AP5Z1):c.80_83delinsTGCTGTAAACTGTAACTGTAAA:p.Arg27_Ile28delinsLeuLeuTer	coding	Pathogenic
7	4781592	GCTGCAGGCCACCCTCGGCCTGC	G	G4781598T	AP5Z1	NM_014855.3(AP5Z1):c.210_231del:p.Gln70fs	coding	Pathogenic
7	4784981	GC	G	C4784985G	AP5Z1	NM_014855.3(AP5Z1):c.868del:p.Arg290fs	coding	Pathogenic
7	4787664	T	TCCGA	G4787669C	AP5Z1	NM_014855.3(AP5Z1):c.1343_1346dup:p.Glu449fs	coding	Pathogenic
7	4787729	GCTGCTGGACCTGCC	G	G4787735T	AP5Z1	NM_014855.3(AP5Z1):c.1413_1426del:p.Leu473fs	coding	Pathogenic
7	4791165	CCAGCTCCACGCA	C	T4791170G	AP5Z1	NM_014855.3(AP5Z1):c.2209_2220del:p.Ser737_Ser740del	coding	Benign
7	5527885	C	CAATG	T5527891A	ACTB	NM_001101.5(ACTB):c.987_990dup:p.Ala331fs	coding	Pathogenic
7	5529194	CA	C	A5529195G	ACTB	NM_001101.5(ACTB):c.329del:p.Leu110fs	coding	Pathogenic
7	5529380	AC	A	C5529383A	ACTB	NM_001101.5(ACTB):c.143del:p.Gly48fs	coding	Pathogenic
7	5741086	GC	G	C5741087T	RNF216	NM_207111.4(RNF216):c.930del:p.Glu310fs	coding	Pathogenic
7	5741400	GTC	G	C5741404G	RNF216	NM_207111.4(RNF216):c.613_614GA[1]:p.Glu205fs	coding	Pathogenic
7	5973306	G	GT	C5973309T	PMS2	NM_000535.7(PMS2):c.*92dup	noncoding	Benign
7	5973398	GTCAGTTCTGAGAAATGACACCCAGGTTGGCGATGTGTCTCATGGTTGGCCTTCCATGGGGACAGTTCCAGGGGTGGTCCATCTCCCCCATGTGGGTGATCAGTTTCTTCATCTCGCTTGTGTTAAGAGCAGTCCCAATCATCAC	G	T5973399C	PMS2	NM_000535.7(PMS2):c.2446_2589del:p.Val816_Ter863del	coding	Pathogenic
7	5973454	TG	T	G5973458A	PMS2	NM_000535.7(PMS2):c.2533del:p.His845fs	coding	Pathogenic/Likely_pathogenic
7	5973487	AT	C	A5973487C	PMS2	NM_000535.7(PMS2):c.2500_2501delinsG:p.Met834fs	coding	Pathogenic
7	5973516	TG	T	G5973517T	PMS2	NM_000535.7(PMS2):c.2471del:p.Thr824fs	coding	Pathogenic
7	5973529	G	GT	C5973531T	PMS2	NM_000535.7(PMS2):c.2458dup:p.Thr820fs	coding	Pathogenic
7	5977650	C	CA	G5977652A	PMS2	NM_000535.7(PMS2):c.2382dup:p.Gly795fs	coding	Pathogenic
7	5977668	TGAAG	T	G5977669A	PMS2	NM_000535.7(PMS2):c.2361_2364del:p.Phe788fs	coding	Pathogenic
7	5977705	CCAGT	TCAGC	C5977705T	PMS2	NM_000535.7(PMS2):c.2324_2328delinsGCTGA:p.Asn775_Trp776delinsSerTer	coding	Pathogenic
7	5977713	T	TA	C5977715A	PMS2	NM_000535.7(PMS2):c.2319dup:p.Lys774Ter	coding	Pathogenic
7	5978621	GC	G	C5978623A	PMS2	NM_000535.7(PMS2):c.2249del:p.Gly750fs	coding	Pathogenic
7	5978624	ATTCT	A	T5978629A	PMS2	NM_000535.7(PMS2):c.2239_2242AGAA[1]:p.Lys748fs	coding	Pathogenic
7	5978674	CAGTTA	C	A5978679G	PMS2	NM_000535.7(PMS2):c.2192_2196del:p.Leu731fs	coding	Pathogenic
7	5978686	GA	G	A5978687G	PMS2	NM_000535.7(PMS2):c.2184del:p.Leu729fs	coding	Pathogenic
7	5978690	C	CT	G5978692T	PMS2	NM_000535.7(PMS2):c.2180dup:p.Thr728fs	coding	Pathogenic
7	5982841	CT	C	T5982842G	PMS2	NM_000535.7(PMS2):c.2156del:p.Gln719fs	coding	Pathogenic
7	5982856	CTGCTGCAGCATCTC	TATACGA	C5982856T	PMS2	NM_000535.7(PMS2):c.2128_2142delinsTCGTATA:p.Glu710fs	coding	Pathogenic
7	5982874	GT	G	T5982876A	PMS2	NM_000535.7(PMS2):c.2123del:p.Asn708fs	coding	Pathogenic
7	5982880	CT	C	T5982882C	PMS2	NM_000535.7(PMS2):c.2117del:p.Lys706fs	coding	Pathogenic
7	5982981	AC	A	C5982982A	PMS2	NM_000535.7(PMS2):c.2016del:p.Met672fs	coding	Pathogenic
7	5986759	CT	C	T5986761A	PMS2	NM_000535.7(PMS2):c.2005del:p.Ser669fs	coding	Pathogenic
7	5986762	ATC	A	C5986766T	PMS2	NM_000535.7(PMS2):c.1999_2000GA[1]:p.Glu667fs	coding	Pathogenic
7	5986794	A	AT	C5986799T	PMS2	NM_000535.7(PMS2):c.1970dup:p.Asn657fs	coding	Pathogenic
7	5986794	AT	A	T5986798C	PMS2	NM_000535.7(PMS2):c.1970del:p.Asn657fs	coding	Pathogenic/Likely_pathogenic
7	5986828	CT	C	T5986829G	PMS2	NM_000535.7(PMS2):c.1936del:p.Arg646fs	coding	Pathogenic
7	5986834	TTC	T	C5986836G	PMS2	NM_000535.7(PMS2):c.1929_1930del:p.Asn644fs	coding	Pathogenic
7	5986851	TTGCTG	T	G5986856T	PMS2	NM_000535.7(PMS2):c.1909_1913del:p.Gln637fs	coding	Pathogenic
7	5986852	TG	T	G5986853C	PMS2	NM_000535.7(PMS2):c.1912del:p.Gln638fs	coding	Pathogenic
7	5986856	GT	G	T5986857G	PMS2	NM_000535.7(PMS2):c.1908del:p.Gln637fs	coding	Pathogenic
7	5986863	ATGATGTAACT	TTTA	A5986863T	PMS2	NM_000535.7(PMS2):c.1892_1902delinsTAAA:p.Gln631fs	coding	Pathogenic
7	5986867	TG	T	G5986868T	PMS2	NM_000535.7(PMS2):c.1897del:p.His633fs	coding	Pathogenic
7	5986879	AT	A	T5986881C	PMS2	NM_000535.7(PMS2):c.1885del:p.Arg628_Ile629insTer	coding	Pathogenic
7	5986888	GCTA	CCT	G5986888C	PMS2	NM_000535.7(PMS2):c.1874_1877delinsAGG:p.Leu625_Ala626delinsTer	coding	Pathogenic
7	5986890	TA	T	A5986893G	PMS2	NM_000535.7(PMS2):c.1874del:p.Ser624_Leu625insTer	coding	Pathogenic
7	5986899	CAT	C	T5986901G	PMS2	NM_000535.7(PMS2):c.1864_1865del:p.Met622fs	coding	Pathogenic
7	5986901	TA	T	A5986902G	PMS2	NM_000535.7(PMS2):c.1863del:p.Ser621_Met622insTer	coding	Pathogenic
7	5986909	TC	T	C5986911A	PMS2	NM_000535.7(PMS2):c.1855del:p.Asp619fs	coding	Pathogenic
7	5986922	C	CT	C5986926T	PMS2	NM_000535.7(PMS2):c.1842dup:p.Val615fs	coding	Pathogenic
7	5986933	A	AT	C5986938T	PMS2	NM_000535.7(PMS2):c.1831dup:p.Ile611fs	coding	Pathogenic
7	5986986	CT	C	T5986990G	PMS2	NM_000535.7(PMS2):c.1778del:p.Lys593fs	coding	Pathogenic/Likely_pathogenic
7	5986996	AT	A	T5986997G	PMS2	NM_000535.7(PMS2):c.1768del:p.Ile590fs	coding	Pathogenic
7	5987014	A	AT	C5987018T	PMS2	NM_000535.7(PMS2):c.1750dup:p.Ile584fs	coding	Pathogenic
7	5987018	CT	C	T5987020C	PMS2	NM_000535.7(PMS2):c.1746del:p.Glu583fs	coding	Pathogenic
7	5987019	TTC	T	C5987021T	PMS2	NM_000535.7(PMS2):c.1744_1745del:p.Glu582fs	coding	Pathogenic
7	5987021	CT	C	T5987027A	PMS2	NM_000535.7(PMS2):c.1743del:p.Glu582fs	coding	Pathogenic
7	5987027	TA	T	A5987031C	PMS2	NM_000535.7(PMS2):c.1737del:p.Phe579fs	coding	Pathogenic
7	5987033	GC	ACT	G5987033A	PMS2	NM_000535.7(PMS2):c.1731_1732delinsAGT:p.Arg578fs	coding	Pathogenic/Likely_pathogenic
7	5987034	C	CT	G5987038T	PMS2	NM_000535.7(PMS2):c.1730dup:p.Arg578fs	coding	Pathogenic
7	5987043	TG	T	G5987047T	PMS2	NM_000535.7(PMS2):c.1721del:p.Pro574fs	coding	Pathogenic/Likely_pathogenic
7	5987055	A	AT	A5987058T	PMS2	NM_000535.7(PMS2):c.1709dup:p.Asn570fs	coding	Pathogenic
7	5987071	AAAACTCG	A	C5987075T	PMS2	NM_000535.7(PMS2):c.1687_1693del:p.Arg563fs	coding	Pathogenic
7	5987092	GT	G	T5987093A	PMS2	NM_000535.7(PMS2):c.1672del:p.Thr558fs	coding	Pathogenic
7	5987125	GAA	G	A5987129G	PMS2	NM_000535.7(PMS2):c.1638_1639del:p.Ser547fs	coding	Pathogenic
7	5987125	G	GA	G5987131A	PMS2	NM_000535.7(PMS2):c.1639dup:p.Ser547fs	coding	Pathogenic
7	5987181	GC	G	C5987185T	PMS2	NM_000535.7(PMS2):c.1583del:p.Gly528fs	coding	Pathogenic
7	5987184	CCT	C	C5987185G	PMS2	NM_000535.7(PMS2):c.1579_1580del:p.Arg527fs	coding	Pathogenic
7	5987185	CT	C	T5987186G	PMS2	NM_000535.7(PMS2):c.1579del:p.Arg527fs	coding	Pathogenic
7	5987188	TC	T	C5987192T	PMS2	NM_000535.7(PMS2):c.1576del:p.Asp526fs	coding	Pathogenic
7	5987193	T	TG	A5987198G	PMS2	NM_000535.7(PMS2):c.1571dup:p.Gly525fs	coding	Pathogenic
7	5987205	CG	C	G5987206C	PMS2	NM_000535.7(PMS2):c.1559del:p.Ala520fs	coding	Pathogenic
7	5987211	CT	C	T5987212C	PMS2	NM_000535.7(PMS2):c.1553del:p.Glu518fs	coding	Pathogenic
7	5987232	CG	C	G5987233T	PMS2	NM_000535.7(PMS2):c.1532del:p.Thr511fs	coding	Pathogenic
7	5987249	AC	A	C5987253T	PMS2	NM_000535.7(PMS2):c.1515del:p.Phe506fs	coding	Pathogenic
7	5987262	CACGGAAGTGCT	C	A5987263G	PMS2	NM_000535.7(PMS2):c.1492_1502del:p.Ser498fs	coding	Pathogenic
7	5987264	C	CG	A5987267G	PMS2	NM_000535.7(PMS2):c.1500dup:p.Val501fs	coding	Pathogenic
7	5987264	CG	C	G5987266A	PMS2	NM_000535.7(PMS2):c.1500del:p.Val501fs	coding	Pathogenic
7	5987279	GCCCCGAGTCCTTCT	G	C5987282A	PMS2	NM_000535.7(PMS2):c.1472_1485del:p.Glu491fs	coding	Pathogenic
7	5987336	AACTC	A	C5987340G	PMS2	NM_000535.7(PMS2):c.1425_1428del:p.Ser476fs	coding	Pathogenic
7	5987345	CCT	C	C5987348T	PMS2	NM_000535.7(PMS2):c.1418_1419del:p.Glu473fs	coding	Pathogenic
7	5987357	G	ATCTCAGGACGCCTTTGTCAGAGATGGCACCTGAAGTGCTAGAAGAC	G5987357A	PMS2	NM_000535.7(PMS2):c.1408delinsGTCTTCTAGCACTTCAGGTGCCATCTCTGACAAAGGCGTCCTGAGAT:p.Pro470delinsValPheTer	coding	Pathogenic
7	5987389	GA	G	A5987391G	PMS2	NM_000535.7(PMS2):c.1375del:p.Ser459fs	coding	Pathogenic
7	5987398	GA	G	A5987400G	PMS2	NM_000535.7(PMS2):c.1366del:p.Ser456fs	coding	Pathogenic
7	5987408	TA	T	A5987409C	PMS2	NM_000535.7(PMS2):c.1356del:p.Met453fs	coding	Pathogenic
7	5987408	T	TA	C5987410A	PMS2	NM_000535.7(PMS2):c.1356dup:p.Met453fs	coding	Pathogenic
7	5987432	TC	T	C5987434T	PMS2	NM_000535.7(PMS2):c.1332del:p.Ser445fs	coding	Pathogenic
7	5987451	C	CT	G5987455T	PMS2	NM_000535.7(PMS2):c.1313dup:p.Thr439fs	coding	Pathogenic
7	5987458	C	CT	G5987460T	PMS2	NM_000535.7(PMS2):c.1306dup:p.Ser436fs	coding	Pathogenic
7	5987483	GA	G	A5987484C	PMS2	NM_000535.7(PMS2):c.1281del:p.His428fs	coding	Pathogenic
7	5987485	CGAAGA	C	G5987489A	PMS2	NM_000535.7(PMS2):c.1275_1279del:p.Leu426fs	coding	Pathogenic
7	5987525	C	CA	T5987526A	PMS2	NM_000535.7(PMS2):c.1239_1240insT:p.Asp414Ter	coding	Pathogenic
7	5987525	C	CT	C5987534T	PMS2	NM_000535.7(PMS2):c.1239dup:p.Asp414fs	coding	Pathogenic
7	5987525	CTTT	C	T5987531C	PMS2	NM_000535.7(PMS2):c.1237_1239del:p.Lys413del	coding	Pathogenic
7	5987543	TC	T	C5987545T	PMS2	NM_000535.7(PMS2):c.1221del:p.Thr408fs	coding	Pathogenic
7	5987558	AT	A	T5987560G	PMS2	NM_000535.7(PMS2):c.1206del:p.Gln402fs	coding	Pathogenic
7	5987568	C	CT	C5987573T	PMS2	NM_000535.7(PMS2):c.1196dup:p.Gln400fs	coding	Pathogenic
7	5987579	TG	T	G5987582C	PMS2	NM_000535.7(PMS2):c.1185del:p.Met396fs	coding	Pathogenic
7	5987583	CT	C	T5987587C	PMS2	NM_000535.7(PMS2):c.1181del:p.Lys394fs	coding	Pathogenic
7	5987600	CA	C	A5987601T	PMS2	NM_000535.7(PMS2):c.1164del:p.His388fs	coding	Pathogenic
7	5989821	GCTGA	G	T5989827A	PMS2	NM_000535.7(PMS2):c.1115_1118TCAG[1]:p.Gln374fs	coding	Pathogenic
7	5989826	C	CT	G5989828T	PMS2	NM_000535.7(PMS2):c.1117dup:p.Ser373fs	coding	Pathogenic
7	5989831	AT	TAAA	A5989831T	PMS2	NM_000535.7(PMS2):c.1112_1113delinsTTTA:p.Asn371fs	coding	Pathogenic
7	5989831	ATT	A	T5989833A	PMS2	NM_000535.7(PMS2):c.1111_1112del:p.Asn371fs	coding	Pathogenic
7	5989867	C	CA	G5989871A	PMS2	NM_000535.7(PMS2):c.1076dup:p.Leu359fs	coding	Pathogenic
7	5989872	AG	A	G5989874T	PMS2	NM_000535.7(PMS2):c.1071del:p.Ser358fs	coding	Pathogenic
7	5989875	TC	T	C5989876T	PMS2	NM_000535.7(PMS2):c.1068del:p.Thr357fs	coding	Pathogenic
7	5989876	CT	C	T5989879A	PMS2	NM_000535.7(PMS2):c.1067del:p.Lys356fs	coding	Pathogenic
7	5989890	AC	A	C5989891A	PMS2	NM_000535.7(PMS2):c.1053del:p.Leu351fs	coding	Pathogenic
7	5989916	AT	A	T5989919G	PMS2	NM_000535.7(PMS2):c.1027del:p.Ile343fs	coding	Pathogenic
7	5989922	CT	C	T5989926A	PMS2	NM_000535.7(PMS2):c.1021del:p.Arg341fs	coding	Pathogenic
7	5989962	CA	C	A5989968G	PMS2	NM_000535.7(PMS2):c.989-8del	noncoding	Benign
7	5989974	CAT	C	A5989977T	PMS2	NM_000535.7(PMS2):c.989-21_989-20del	noncoding	Benign/Likely_benign
7	5992012	GGT	G	G5992015C	PMS2	NM_000535.7(PMS2):c.945_946AC[1]:p.His316fs	coding	Pathogenic
7	5992028	GTGGTAGACCTC	T	G5992028T	PMS2	NM_000535.7(PMS2):c.922_933delinsA:p.Glu308fs	coding	Pathogenic
7	5995534	C	CT	G5995538T	PMS2	NM_000535.7(PMS2):c.902dup:p.Val302fs	coding	Pathogenic
7	5995558	G	GT	G5995561T	PMS2	NM_000535.7(PMS2):c.878dup:p.Asn293fs	coding	Pathogenic
7	5995563	TA	T	A5995566G	PMS2	NM_000535.7(PMS2):c.873del:p.Phe291fs	coding	Pathogenic/Likely_pathogenic
7	5995566	AG	A	G5995567A	PMS2	NM_000535.7(PMS2):c.870del:p.Phe291fs	coding	Pathogenic
7	5995572	ACTGT	A	C5995581T	PMS2	NM_000535.7(PMS2):c.853_856ACAG[2]:p.Arg287fs	coding	Pathogenic
7	5995572	ACTGTCTGT	A	C5995577T	PMS2	NM_000535.7(PMS2):c.853_856ACAG[1]:p.Asp286fs	coding	Pathogenic
7	5995573	CTG	C	G5995575C	PMS2	NM_000535.7(PMS2):c.862_863del:p.Gln288fs	coding	Pathogenic
7	5995577	C	CT	G5995579T	PMS2	NM_000535.7(PMS2):c.859dup:p.Arg287fs	coding	Pathogenic
7	5995585	TG	T	G5995586A	PMS2	NM_000535.7(PMS2):c.851del:p.Ser283_Ser284insTer	coding	Pathogenic/Likely_pathogenic
7	5995590	TC	T	C5995592T	PMS2	NM_000535.7(PMS2):c.846del:p.Ser283fs	coding	Pathogenic
7	5995606	CG	C	G5995607T	PMS2	NM_000535.7(PMS2):c.830del:p.Thr277fs	coding	Pathogenic
7	5997326	TA	T	A5997332G	PMS2	NM_000535.7(PMS2):c.802del:p.Tyr268fs	coding	Pathogenic
7	5997326	T	TA	G5997333A	PMS2	NM_000535.7(PMS2):c.802dup:p.Tyr268fs	coding	Pathogenic
7	5997348	CG	C	G5997350A	PMS2	NM_000535.7(PMS2):c.780del:p.Asp261fs	coding	Pathogenic
7	5997349	GG	CT	G5997349C	PMS2	NM_000535.7(PMS2):c.779_780delinsAG:p.Ser260Ter	coding	Pathogenic
7	5997369	CTT	C	T5997370C	PMS2	NM_000535.7(PMS2):c.758_759del:p.Glu253fs	coding	Pathogenic
7	5997371	TCA	T	A5997377G	PMS2	NM_000535.7(PMS2):c.752_753TG[2]:p.Cys252_Glu253delinsTer	coding	Pathogenic/Likely_pathogenic
7	5997372	CACACA	AACACACG	C5997372A	PMS2	NM_000535.7(PMS2):c.752_757delinsCGTGTGTT:p.Val251fs	coding	Pathogenic
7	5997375	ACACGGAGT	A	G5997379T	PMS2	NM_000535.7(PMS2):c.746_753del:p.Asp249fs	coding	Pathogenic
7	5997379	GGA	G	A5997381T	PMS2	NM_000535.7(PMS2):c.748_749del:p.Ser250fs	coding	Pathogenic
7	5997386	C	CT	A5997388T	PMS2	NM_000535.7(PMS2):c.742dup:p.Ser248fs	coding	Pathogenic
7	5997387	TA	T	A5997388G	PMS2	NM_000535.7(PMS2):c.741del:p.Ser248fs	coding	Pathogenic/Likely_pathogenic
7	5997388	AGGGGG	CTTCACACACA	A5997388C	PMS2	NM_000535.7(PMS2):c.736_741delinsTGTGTGTGAAG:p.Pro246_Pro247delinsCysValTer	coding	Pathogenic
7	5997398	TG	T	G5997399A	PMS2	NM_000535.7(PMS2):c.730del:p.Gln244fs	coding	Pathogenic
7	5997405	A	AAGGAATG	C5997416A	PMS2	NM_000535.7(PMS2):c.717_723dup:p.Phe242fs	coding	Pathogenic
7	5997414	GGCTTT	G	T5997417A	PMS2	NM_000535.7(PMS2):c.710_714del:p.Gln237fs	coding	Pathogenic
7	5997416	CT	C	T5997419G	PMS2	NM_000535.7(PMS2):c.712del:p.Ser238fs	coding	Pathogenic
7	5997426	GAAA	G	A5997441T	PMS2	NM_000535.7(PMS2):c.706-6_706-4del	noncoding	Benign
7	5997426	GAA	G	A5997442T	PMS2	NM_000535.7(PMS2):c.706-5_706-4del	noncoding	Benign/Likely_benign
7	5997426	GA	G	A5997443T	PMS2	NM_000535.7(PMS2):c.706-4del	noncoding	Benign
7	5999118	CCAAA	C	A5999121C	PMS2	NM_000535.7(PMS2):c.691_694del:p.Phe231fs	coding	Pathogenic
7	5999121	AAC	A	C5999125G	PMS2	NM_000535.7(PMS2):c.688_689GT[1]:p.Phe231fs	coding	Pathogenic
7	5999125	CAG	C	A5999128C	PMS2	NM_000535.7(PMS2):c.684_685CT[1]:p.Ser229fs	coding	Pathogenic
7	5999168	T	TACCA	C5999173A	PMS2	NM_000535.7(PMS2):c.641_644dup:p.Cys216fs	coding	Pathogenic
7	5999182	GT	G	T5999186C	PMS2	NM_000535.7(PMS2):c.630del:p.Lys210fs	coding	Pathogenic
7	5999219	G	GA	T5999221A	PMS2	NM_000535.7(PMS2):c.593dup:p.Arg199fs	coding	Pathogenic
7	5999269	CA	C	A5999270T	PMS2	NM_000535.7(PMS2):c.543del:p.Glu180_Tyr181insTer	coding	Pathogenic
7	5999316	A	ATATTATAGGAAT	C5999331T	PMS2	NM_000535.7(PMS2):c.538-53_538-42dup	noncoding	Benign
7	6002451	AC	A	C6002453T	PMS2	NM_000535.7(PMS2):c.537+1del	noncoding	Pathogenic/Likely_pathogenic
7	6002455	TCTTAATATTC	T	A6002459T	PMS2	NM_000535.7(PMS2):c.525_534del:p.Asn176fs	coding	Pathogenic
7	6002479	TA	T	A6002480T	PMS2	NM_000535.7(PMS2):c.510del:p.His170fs	coding	Pathogenic
7	6002533	TGGGGC	CGGGG	T6002533C	PMS2	NM_000535.7(PMS2):c.452_457delinsCCCCG:p.Arg151fs	coding	Pathogenic
7	6002538	CG	C	G6002543T	PMS2	NM_000535.7(PMS2):c.451del:p.Arg151fs	coding	Pathogenic
7	6002544	TA	T	A6002545G	PMS2	NM_000535.7(PMS2):c.445del:p.Tyr149fs	coding	Pathogenic/Likely_pathogenic
7	6003696	GCA	G	C6003699A	PMS2	NM_000535.7(PMS2):c.345_346del:p.Ala116fs	coding	Pathogenic
7	6003717	TC	T	C6003723G	PMS2	NM_000535.7(PMS2):c.325del:p.Glu109fs	coding	Pathogenic
7	6003717	T	TC	G6003724C	PMS2	NM_000535.7(PMS2):c.325dup:p.Glu109fs	coding	Pathogenic
7	6003730	CA	C	A6003734G	PMS2	NM_000535.7(PMS2):c.312del:p.Phe104fs	coding	Pathogenic
7	6003772	T	TAG	T6003776G	PMS2	NM_000535.7(PMS2):c.269_270dup:p.Lys91fs	coding	Pathogenic/Likely_pathogenic
7	6003971	C	CTTAA	G6003976T	PMS2	NM_000535.7(PMS2):c.247_250dup:p.Thr84fs	coding	Pathogenic
7	6003981	CG	C	G6003982A	PMS2	NM_000535.7(PMS2):c.240del:p.Phe80fs	coding	Pathogenic
7	6003986	TTTTC	T	T6003989C	PMS2	NM_000535.7(PMS2):c.232_235del:p.Glu78fs	coding	Pathogenic
7	6003998	AC	A	C6004002A	PMS2	NM_000535.7(PMS2):c.223del:p.Gly74_Val75insTer	coding	Pathogenic
7	6004001	C	CCA	T6004006C	PMS2	NM_000535.7(PMS2):c.217_218TG[3]:p.Gly74fs	coding	Pathogenic
7	6004008	CATTGTCTGAAACTTCA	C	T6004011A	PMS2	NM_000535.7(PMS2):c.198_213del:p.Ile66fs	coding	Pathogenic
7	6004039	AT	A	T6004040A	PMS2	NM_000535.7(PMS2):c.182del:p.Tyr61fs	coding	Pathogenic
7	6004045	CT	C	T6004047A	PMS2	NM_000535.7(PMS2):c.176del:p.Lys59fs	coding	Pathogenic
7	6004048	AAG	A	A6004049C	PMS2	NM_000535.7(PMS2):c.172_173del:p.Lys57_Leu58insTer	coding	Pathogenic
7	6005892	C	CAATT	A6005896T	PMS2	NM_000535.7(PMS2):c.162_163insAATT:p.Asp55delinsAsnTer	coding	Pathogenic
7	6005908	AGCATCCAG	A	G6005909A	PMS2	NM_000535.7(PMS2):c.139_146del:p.Leu47fs	coding	Pathogenic/Likely_pathogenic
7	6005912	TC	T	C6005914A	PMS2	NM_000535.7(PMS2):c.142del:p.Asp48fs	coding	Pathogenic
7	6005918	CTG	C	G6005920T	PMS2	NM_000535.7(PMS2):c.135_136del:p.Asn45fs	coding	Pathogenic
7	6005925	CT	C	T6005926A	PMS2	NM_000535.7(PMS2):c.129del:p.Glu44fs	coding	Pathogenic
7	6005932	C	CTCCT	T6005938C	PMS2	NM_000535.7(PMS2):c.119_122dup:p.Leu42fs	coding	Pathogenic
7	6005938	TA	T	A6005939C	PMS2	NM_000535.7(PMS2):c.116del:p.Val39fs	coding	Pathogenic
7	6005948	CTTAGACTCAGTACCACCTGCCCAGAGCAAATCTGATGGACTGACTTCCGATCAATAGGTTTGATGGCCTTAGCAGGTTCTGTACTAGAGAAATCA	ATTT	C6005948A	PMS2	NM_000535.7(PMS2):c.24-12_107delinsAAAT	coding	Pathogenic
7	6006003	TA	T	A6006004G	PMS2	NM_000535.7(PMS2):c.51del:p.Ile18fs	coding	Pathogenic
7	6006021	CA	C	A6006022G	PMS2	NM_000535.7(PMS2):c.33del:p.Ala12fs	coding	Pathogenic
7	6009433	ATG	A	G6009435A	AIMP2	NM_006303.4(AIMP2):c.72_73del:p.Met24fs	coding	Pathogenic
7	6023380	TTC	T	C6023386G	AIMP2;EIF2AK1	NM_006303.4(AIMP2):c.654_655CT[2]:p.Leu220fs	coding	Pathogenic
7	11375882	TA	T	A11375889T	THSD7A	NM_015204.3(THSD7A):c.4890-5del	noncoding	Benign
7	11831843	A	AGCAGCG	A11831873G	THSD7A	NM_015204.3(THSD7A):c.80_85CGCTGC[5]:p.27_28PL[5]	coding	Benign
7	15561784	T	TAA	C15561789A	AGMO	NM_001004320.2(AGMO):c.60_61dup:p.Tyr21fs	coding	Benign
7	16088412	CTTTTTTTT	C	T16088428G	CRPPA	NM_001101426.4(CRPPA):c.*3275_*3282del	noncoding	Benign
7	16216190	AAATG	A	T16216193C	CRPPA	NM_001101426.4(CRPPA):c.1123_1126del:p.His375fs	coding	Pathogenic
7	16258392	AAAC	A	A16258403G	CRPPA	NM_001101426.4(CRPPA):c.1105_1107GTT[3]:p.Val372del	coding	Pathogenic/Likely_pathogenic
7	16258478	G	GT	A16258480T	CRPPA	NM_001101426.4(CRPPA):c.1030dup:p.Thr344fs	coding	Pathogenic
7	16258873	CAT	C	A16258874T	CRPPA	NM_001101426.4(CRPPA):c.1026+45_1026+46del	noncoding	Benign
7	16259141	A	AT	A16259142T	CRPPA	NM_001101426.4(CRPPA):c.934-130_934-129insA	noncoding	Benign
7	16278175	TTGTTATCTTCTTC	T	T16278179A	CRPPA	NM_001101426.4(CRPPA):c.874_886del:p.Glu292fs	coding	Pathogenic
7	16278234	TA	T	A16278245G	CRPPA	NM_001101426.4(CRPPA):c.836-9del	noncoding	Benign/Likely_benign
7	16278234	T	TAA	G16278246A	CRPPA	NM_001101426.4(CRPPA):c.836-19_836-18dup	noncoding	Benign
7	16308589	CA	C	A16308592C	CRPPA	NM_001101426.4(CRPPA):c.722del:p.Leu241fs	coding	Pathogenic
7	16308606	ATT	A	T16308607C	CRPPA	NM_001101426.4(CRPPA):c.704_705del:p.Glu235fs	coding	Pathogenic
7	16308637	A	AAAC	T16308655C	CRPPA	NM_001101426.4(CRPPA):c.685-25GTT[6]	noncoding	Benign/Likely_benign
7	16421138	AC	A	C16421143A	CRPPA	NM_001101426.4(CRPPA):c.184del:p.Val62fs	coding	Pathogenic/Likely_pathogenic
7	16421157	A	AC	G16421164C	CRPPA	NM_001101426.4(CRPPA):c.165dup:p.Cys56fs	coding	Pathogenic
7	16421269	C	CA	G16421271A	CRPPA	NM_001101426.4(CRPPA):c.53dup:p.Ser19Glufs	coding	Pathogenic
7	16462576	CT	C	T16462577G	SOSTDC1	NM_015464.3(SOSTDC1):c.592del:p.Ser198fs	coding	Benign
7	17814952	G	GAA	G17814967A	SNX13	NM_015132.5(SNX13):c.1954-22_1954-21dup	noncoding	Benign
7	19116861	C	CT	G19116863T	TWIST1	NM_000474.4(TWIST1):c.460dup:p.Arg154fs	coding	Pathogenic
7	19116903	G	GAGGGCAGCGTGGGGATGATCT	T19116925A	TWIST1	NM_000474.4(TWIST1):c.398_418dup:p.Ser140Ter	coding	Pathogenic
7	19116904	A	AGGGCAGCGTGGGGATGATCTT	C19116926G	TWIST1	NM_000474.4(TWIST1):c.397_417dup:p.Lys133_Pro139dup	coding	Pathogenic
7	19116905	G	GGGCAGCGTGGGGATGATCTTC	C19116927G	TWIST1	NM_000474.4(TWIST1):c.396_416dup:p.Lys133_Pro139dup	coding	Pathogenic
7	19116913	T	TG	A19116918G	TWIST1	NM_000474.4(TWIST1):c.408dup:p.Thr137fs	coding	Pathogenic
7	19117000	T	TC	T19117002C	TWIST1	NM_000474.4(TWIST1):c.321dup:p.Thr108fs	coding	Pathogenic
7	19117013	G	GT	A19117015T	TWIST1	NM_000474.4(TWIST1):c.308dup:p.Tyr103Ter	coding	Pathogenic
7	19117014	TAA	T	A19117015G	TWIST1	NM_000474.4(TWIST1):c.306_307del:p.Tyr103fs	coding	Pathogenic
7	19117044	C	CT	G19117046T	TWIST1	NM_000474.4(TWIST1):c.277dup:p.Ser93fs	coding	Pathogenic
7	19117045	TGCCGCCGCCGCCGCCCGCGCC	T	G19117058A	TWIST1	NM_000474.4(TWIST1):c.256_276del:p.Gly86_Gly92del	coding	Benign
7	19117045	TGCCGCCGCCGCCGCCCGC	T	C19117061A	TWIST1	NM_000474.4(TWIST1):c.259_276del:p.Ala87_Gly92del	coding	Benign/Likely_benign
7	19117045	T	TGCCGCCGCCGCCGCCCGCGCC	A19117079G	TWIST1	NM_000474.4(TWIST1):c.256_276dup:p.Gly86_Gly92dup	coding	Benign
7	19117047	C	CCGCCGCCGCCGCCCG	G19117076C	TWIST1	NM_000474.4(TWIST1):c.260_274dup:p.Ala87_Gly91dup	coding	Benign
7	19117124	CG	C	G19117126C	TWIST1	NM_000474.4(TWIST1):c.197del:p.Pro66fs	coding	Pathogenic
7	19117179	CCGCCCGCGCTG	C	C19117184T	TWIST1	NM_000474.4(TWIST1):c.132_142del:p.Ser45fs	coding	Pathogenic
7	19117210	TGCGTCCCCCGCGCTTGCCGCTC	T	C19117212G	TWIST1	NM_000474.4(TWIST1):c.90_111del:p.Lys33fs	coding	Pathogenic
7	19117246	G	GGTCTGGCT	C19117255G	TWIST1	NM_000474.4(TWIST1):c.68_75dup:p.Arg26fs	coding	Pathogenic
7	21543345	GA	TT	G21543345T	DNAH11	NM_001277115.2(DNAH11):c.100_101delinsTT:p.Glu34Leu	coding	Benign
7	21543350	CGAG	C	G21543363A	DNAH11	NM_001277115.2(DNAH11):c.106_108GAG[4]:p.Glu40del	coding	Benign
7	21581957	GA	G	A21581959G	DNAH11	NM_001277115.2(DNAH11):c.1648del:p.Arg550fs	coding	Pathogenic
7	21590946	A	ATCTTTTGATGTTGAAGAAACAAGACATACCAGATTCAGCTT	A21590989C	DNAH11	NM_001277115.2(DNAH11):c.2200_2240dup:p.Leu747delinsPhePheTer	coding	Pathogenic
7	21591468	GA	G	A21591469G	DNAH11	NM_001277115.2(DNAH11):c.2559del:p.Glu854fs	coding	Pathogenic
7	21600091	CA	C	A21600093C	DNAH11	NM_001277115.2(DNAH11):c.2974del:p.Thr992fs	coding	Pathogenic
7	21601562	AC	A	C21601565T	DNAH11	NM_001277115.2(DNAH11):c.3595del:p.Leu1199fs	coding	Pathogenic
7	21619936	A	ATTAAT	T21619940A	DNAH11	NM_001277115.2(DNAH11):c.4378-17_4378-16insATTTA	noncoding	Benign
7	21619968	ATCAG	A	T21619973A	DNAH11	NM_001277115.2(DNAH11):c.4395_4398del:p.Ser1465fs	coding	Pathogenic
7	21655836	CAT	C	A21655837G	DNAH11	NM_001277115.2(DNAH11):c.4950_4951del:p.Cys1651fs	coding	Pathogenic
7	21687484	CAAGTGAAAATGATTCATGATGCCATCAGAAACAGGAAG	C	T21687488A	DNAH11	NM_001277115.2(DNAH11):c.5885_5922del:p.Val1962fs	coding	Pathogenic
7	21704611	GA	G	A21704612G	DNAH11	NM_001277115.2(DNAH11):c.6452del:p.Glu2151fs	coding	Pathogenic
7	21720728	CTA	C	A21720730G	DNAH11	NM_001277115.2(DNAH11):c.7140_7141del:p.Val2382fs	coding	Pathogenic
7	21735706	G	GGTT	A21735708T	DNAH11	NM_001277115.2(DNAH11):c.7508_7509insTTG:p.Lys2504_Pro2505insTer	coding	Pathogenic
7	21742141	TGAGA	T	G21742144T	DNAH11	NM_001277115.2(DNAH11):c.8130_8131GA[1]:p.Arg2711fs	coding	Pathogenic
7	21742153	CA	C	A21742156C	DNAH11	NM_001277115.2(DNAH11):c.8144del:p.Asn2715fs	coding	Pathogenic
7	21773945	G	GA	G21773952A	DNAH11	NM_001277115.2(DNAH11):c.9288dup:p.Glu3097fs	coding	Pathogenic
7	21784502	C	CTGGT	G21784507T	DNAH11	NM_001277115.2(DNAH11):c.9560_9563dup:p.Ala3189fs	coding	Pathogenic
7	21807935	ACT	A	C21807938G	DNAH11	NM_001277115.2(DNAH11):c.10219_10220CT[1]:p.Cys3408fs	coding	Pathogenic
7	21861937	A	AGC	A21861940G	DNAH11	NM_001277115.2(DNAH11):c.11288_11289dup:p.Ile3764fs	coding	Pathogenic
7	21864553	GAGAT	G	T21864557C	DNAH11	NM_001277115.2(DNAH11):c.11396_11399del:p.Ile3799fs	coding	Pathogenic
7	21884368	AC	A	C21884369T	DNAH11	NM_001277115.2(DNAH11):c.12466del:p.Leu4156fs	coding	Pathogenic
7	21899979	G	GCAAT	T21899986A	DNAH11	NM_001277115.2(DNAH11):c.13165_13168dup:p.Met4390fs	coding	Pathogenic
7	21900050	C	CA	C21900058A	DNAH11	NM_001277115.2(DNAH11):c.13240dup:p.Thr4414fs	coding	Pathogenic
7	21901021	A	ACCCAAGCAGGAACCATTGTTGAAGCCCGTCTCAAGGAGCTGGCATGCCCTATGCCGGTCATCTTTGCAAAAGCCACCCCCGTGGACAGACAAGAAAC	A21901120C	DNAH11	NM_001277115.2(DNAH11):c.13320_13416dup:p.Lys4473delinsProSerArgAsnHisCysTer	coding	Pathogenic
7	21901224	GGCTGGAGTGGCTCTGCTTCTAGAAGCGTAAGGTAACACTGGCATTCCTCTAGCCTCT	G	G21901234C	DNAH11	NM_001277115.2(DNAH11):c.13531_*36del:p.Ala4511_Ter4517del	coding	Pathogenic
7	21901757	CTCCAGTG	C	C21901767T	DNAH11	NM_001277115.2(DNAH11):c.*506_*512CAGTGTC[1]	noncoding	Benign
7	22941310	A	AAC	A22941312C	FAM126A	NM_032581.4(FAM126A):c.*4278_*4279insGT	noncoding	Benign
7	22960423	G	GA	T22960430A	FAM126A	NM_032581.4(FAM126A):c.832-14dup	noncoding	Benign
7	22983971	A	AT	A22983973T	FAM126A	NM_032581.4(FAM126A):c.125dup:p.Tyr42Ter	coding	Pathogenic
7	23124710	CT	C	T23124713G	KLHL7	NM_001031710.3(KLHL7):c.249del:p.Phe83fs	coding	Pathogenic
7	23140920	TCTGA	T	A23140924T	KLHL7	NM_001031710.3(KLHL7):c.598_601del:p.Leu199_Thr200insTer	coding	Pathogenic
7	23155936	CTTTAT	C	A23155940T	KLHL7	NM_001031710.3(KLHL7):c.936+3731_936+3735del	noncoding	Benign
7	23165779	AT	A	T23165783G	KLHL7	NM_001031710.3(KLHL7):c.1022del:p.Leu341fs	coding	Pathogenic
7	23254239	GA	G	A23254241C	GPNMB	NM_002510.3(GPNMB):c.296del:p.Asn99fs	coding	Pathogenic
7	23260471	TTG	T	T23260474A	GPNMB	NM_002510.3(GPNMB):c.717_718TG[1]:p.Val240fs	coding	Pathogenic
7	23260626	CTGTT	C	G23260632C	GPNMB	NM_002510.3(GPNMB):c.873_876GTTT[1]:p.Val293fs	coding	Pathogenic
7	23266552	AT	A	T23266554C	GPNMB	NM_002510.3(GPNMB):c.1056del:p.Pro353fs	coding	Pathogenic
7	24702817	TG	CA	T24702817C	GSDME	NM_001127453.2(GSDME):c.1199_1200inv:p.Ala400Val	coding	Benign
7	24706388	GGAA	G	A24706396G	GSDME	NM_001127453.2(GSDME):c.991-21TTC[2]	noncoding	Pathogenic
7	25123715	CTTT	C	T25123719G	CYCS	NM_018947.5(CYCS):c.301_303del:p.Lys101del	coding	Pathogenic
7	26193378	T	TA	T26193385A	HNRNPA2B1	NM_002137.4(HNRNPA2B1):c.842-11dup	noncoding	Benign
7	27095697	A	ATGG	G27095722T	HOXA1	NM_153620.3(HOXA1):c.192_194CCA[9]:p.His72dup	coding	Benign/Likely_benign
7	27095697	ATGGTGGTGG	A	T27095713G	HOXA1	NM_005522.5(HOXA1):c.192_194CCA[5]:p.His70_His72del	coding	Benign
7	27095727	AC	A	C27095729G	HOXA1	NM_005522.4(HOXA1):c.185del:p.Gly62fs	coding	Pathogenic
7	27095737	A	AC	T27095744C	HOXA1	NM_005522.4(HOXA1):c.175dup:p.Val59fs	coding	Pathogenic
7	27182865	GT	G	T27182867C	HOXA11	NM_005523.5(HOXA11):c.872del:p.Asn291fs	coding	Pathogenic
7	27199671	G	GAGGACGACGCGGCGGCGGCGGCGGCGGCTGCAGCGGCAGCCGCGGCAGCAGC	G27199724A	HOXA13	NM_000522.5(HOXA13):c.355_406dup:p.Ser136fs	coding	Pathogenic
7	30014795	ATCT	A	C30014800T	FKBP14	NM_017946.4(FKBP14):c.570_572AGA[1]:p.Glu191del	coding	Pathogenic
7	30019110	T	TG	A30019116G	FKBP14	NM_017946.4(FKBP14):c.362dup:p.Glu122fs	coding	Pathogenic/Likely_pathogenic
7	30023065	C	CAATT	C30023068T	FKBP14	NM_017946.3(FKBP14):c.198-250_198-249insTTAA	noncoding	Benign
7	30026303	ATTAC	A	T30026308G	FKBP14	NM_017946.3(FKBP14):c.197+5_197+8del	noncoding	Pathogenic
7	30026448	AAGCCCCAATCAAAGAAGTG	A	G30026450C	FKBP14	NM_017946.4(FKBP14):c.42_60del:p.Val14_Thr15insTer	coding	Pathogenic
7	30026458	CAAA	C	A30026459G	FKBP14	NM_017946.4(FKBP14):c.48_50del:p.Leu17del	coding	Benign/Likely_benign
7	30026473	CAG	C	A30026476T	FKBP14	NM_017946.4(FKBP14):c.32_33CT[1]:p.Leu12fs	coding	Pathogenic
7	30594966	TCTG	T	T30594980C	GARS1	NM_002047.4(GARS1):c.47_49TGC[4]:p.Leu20del	coding	Benign
7	30598816	CAAAG	C	A30598819G	GARS1	NM_002047.4(GARS1):c.246_249del:p.Glu83fs	coding	Pathogenic
7	30632713	A	AC	G30632714C	GARS1	NM_002047.4(GARS1):c.2094+276_2094+277insC	noncoding	Benign
7	30976540	GGGACT	G	A30976543G	GHRHR	NM_000823.4(GHRHR):c.1089_1093del:p.Leu364fs	coding	Pathogenic
7	33015718	T	TCC	A33015721C	NT5C3A	NM_016489.13(NT5C3A):c.742_743dup:p.Val249fs	coding	Pathogenic
7	33017452	TC	T	C33017454A	NT5C3A	NM_016489.13(NT5C3A):c.577del:p.Asp193fs	coding	Pathogenic
7	33019678	C	CT	G33019683T	NT5C3A	NM_016489.12(NT5C3A):c.384dupA:p.Ala129Serfs	coding	Pathogenic
7	33095235	CA	C	A33095236C	RP9	NM_203288.2(RP9):c.664del:p.Ter222AspextTer?	coding	Benign/Likely_benign
7	33146353	GAAATGGACAAGGT	G	A33146356G	BBS9	NM_198428.3(BBS9):c.104_112+4del	coding	Pathogenic
7	33155681	CT	C	T33155684G	BBS9	NM_198428.3(BBS9):c.310del:p.Cys104fs	coding	Pathogenic
7	33273895	AC	A	C33273896A	BBS9	NM_198428.3(BBS9):c.956del:p.Thr319fs	coding	Pathogenic
7	33336590	AG	A	G33336591A	BBS9	NM_198428.3(BBS9):c.1167del:p.Ile391fs	coding	Pathogenic
7	33383751	AAAAC	A	A33383753G	BBS9	NM_198428.3(BBS9):c.1877_1880del:p.Lys626fs	coding	Pathogenic
7	33388073	G	GC	A33388075C	BBS9	NM_198428.3(BBS9):c.2045dup:p.Arg683fs	coding	Pathogenic
7	34153398	G	GTA	G34153411T	BMPER	NM_001365308.1(BMPER):c.*126_*127TA[7]	noncoding	Benign
7	35204477	TG	T	G35204481T	TBX20	NM_001077653.2(TBX20):c.995del:p.Pro332fs	coding	Pathogenic
7	36407740	A	ACTT	C36407746T	ANLN	NM_018685.5(ANLN):c.883_885dup:p.Ser295dup	coding	Benign
7	36439196	CT	C	T36439199G	ANLN	NM_018685.5(ANLN):c.2884-5del	noncoding	Benign
7	37894544	TA	CT	T37894544C	NME8	NM_016616.5(NME8):c.1478_1479delinsCT:p.Ile493Thr	coding	Benign
7	37914399	T	TC	A37914401C	SFRP4	NM_003014.3(SFRP4):c.499dupG	coding	Pathogenic
7	37914411	TCCTGTAC	T	C37914413A	SFRP4	NM_003014.3(SFRP4):c.481_487delGTACAGG	coding	Pathogenic
7	39951827	CG	C	G39951828C	CDK13	NM_003718.5(CDK13):c.1187del:p.Arg396fs	coding	Pathogenic
7	40133093	G	GT	G40133097T	MPLKIP	NM_138701.4(MPLKIP):c.505dup:p.Thr169fs	coding	Pathogenic
7	40134290	GA	G	A40134291C	MPLKIP	NM_138701.4(MPLKIP):c.277del:p.Ser93fs	coding	Pathogenic
7	40134394	A	AG	A40134396G	MPLKIP	NM_138701.4(MPLKIP):c.173dup:p.Ser58_Arg59insTer	coding	Pathogenic
7	40134415	CGTGTG	C	T40134419C	MPLKIP	NM_138701.4(MPLKIP):c.148_152del:p.His50fs	coding	Pathogenic
7	40134429	TCC	T	C40134431G	MPLKIP	NM_138701.4(MPLKIP):c.137_138del:p.Gly46fs	coding	Pathogenic
7	40189513	A	AAT	T40189530A	SUGCT	NM_024728.2(SUGCT):c.334-30AT[9]	noncoding	Benign
7	40189513	AAT	A	A40189528T	SUGCT	NM_024728.2(SUGCT):c.334-30AT[7]	noncoding	Benign
7	41960988	A	AT	C41960998T	GLI3	NM_000168.6(GLI3):c.*3341dup	noncoding	Benign
7	41964064	G	GT	A41964082T	GLI3	NM_000168.6(GLI3):c.*265dup	noncoding	Benign
7	41964348	GAATTTGCTTTCTTCCGCTAGGGAGGTCAGCAAAGAACTCATGTCCCCGATAGCCATGTTGGTGGTGCTCATGGACAGCGCTGGGAATGGGAGGGACGCCCGAGGCGTGGTGAGGCGGGAGGAGCTATGGGAAAGGTTCTGAATGATACTTGGGCTCAGGGCCCCCGACATCAGGCTGGAGTGGTCCCCATCGTCTATGATGGCATCGAAGTCAATCTGTACCCCTTCCAGGTCATGGCTGTCGAGGCTGTCCACTGTGCTTGTCACCTGATTAGCACCTGGGGAAAGTAACTCAGAGTTTTTGGCGCTGGTCCCCTGTAGCAGGCAGCTGGCGTCTGAAATAGAGAATGAACCAGCTTTCGTGTCTTGCTGACTGAAGCCCACGGTTTGGTCATAGAACTGACCAGAGT	G	T41964353C	GLI3	NM_000168.6(GLI3):c.4316_4724del:p.Tyr1439fs	coding	Pathogenic
7	41964407	T	TG	T41964410G	GLI3	NM_000168.6(GLI3):c.4665dup:p.Asn1556fs	coding	Pathogenic
7	41964633	AAGTAACTCAG	A	A41964637T	GLI3	NM_000168.6(GLI3):c.4430_4439del:p.Ser1477fs	coding	Pathogenic
7	41964641	C	CA	G41964643A	GLI3	NM_000168.6(GLI3):c.4431dup:p.Glu1478Ter	coding	Pathogenic
7	41964677	TG	T	G41964679C	GLI3	NM_000168.6(GLI3):c.4395del:p.Ser1466fs	coding	Pathogenic
7	41964870	GC	G	C41964871T	GLI3	NM_000168.6(GLI3):c.4202del:p.Ser1401fs	coding	Pathogenic
7	41965062	TG	T	G41965063C	GLI3	NM_000168.6(GLI3):c.4010del:p.Ala1337fs	coding	Pathogenic
7	41965161	TGACTCATT	A	T41965161A	GLI3	NM_000168.6(GLI3):c.3904_3912delinsT:p.Asn1302fs	coding	Pathogenic
7	41965198	TG	T	G41965200C	GLI3	NM_000168.6(GLI3):c.3874del:p.Gln1292fs	coding	Pathogenic
7	41965285	A	ACTGG	C41965293G	GLI3	NM_000168.6(GLI3):c.3784_3787dup:p.Val1263fs	coding	Pathogenic
7	41965365	TC	T	C41965367G	GLI3	NM_000168.6(GLI3):c.3707del:p.Gly1236fs	coding	Pathogenic
7	41965426	A	AG	T41965430G	GLI3	NM_000168.6(GLI3):c.3646dup:p.Leu1216fs	coding	Pathogenic
7	41965437	GC	G	C41965442A	GLI3	NM_000168.6(GLI3):c.3635del:p.Gly1212fs	coding	Pathogenic
7	41965618	TC	T	C41965619G	GLI3	NM_000168.6(GLI3):c.3454del:p.Glu1152fs	coding	Pathogenic
7	41965658	CG	C	G41965659T	GLI3	NM_000168.6(GLI3):c.3414del:p.His1138fs	coding	Pathogenic
7	41965685	CAA	C	A41965687G	GLI3	NM_000168.6(GLI3):c.3386_3387del:p.Asp1128_Phe1129insTer	coding	Pathogenic
7	41965989	GC	AA	G41965989A	GLI3	NM_000168.6(GLI3):c.3083_3084delinsTT:p.Ser1028Ile	coding	Benign
7	41966068	AC	A	C41966069G	GLI3	NM_000168.6(GLI3):c.3004del:p.Gly1001_Val1002insTer	coding	Pathogenic
7	41966137	CA	C	A41966138C	GLI3	NM_000168.6(GLI3):c.2935del:p.Cys979fs	coding	Pathogenic
7	41966309	TGAGGCTGAGCAGGCTGGGCAGGCCGTCGCTCTGGCTGGCTTCGCTGGAGCGGCGC	T	T41966315G	GLI3	NM_000168.6(GLI3):c.2709_2763del:p.Arg905fs	coding	Pathogenic
7	41966352	GC	G	C41966353T	GLI3	NM_000168.6(GLI3):c.2720del:p.Ser907fs	coding	Pathogenic
7	41966444	TG	T	G41966446A	GLI3	NM_000168.6(GLI3):c.2628del:p.Ser877fs	coding	Pathogenic
7	41966452	CG	C	G41966454C	GLI3	NM_000168.6(GLI3):c.2620del:p.Arg874fs	coding	Pathogenic
7	41966589	CG	C	G41966592A	GLI3	NM_000168.6(GLI3):c.2483del:p.Pro828fs	coding	Pathogenic
7	41967654	CG	C	G41967656A	GLI3	NM_000168.6(GLI3):c.2372del:p.Pro791fs	coding	Pathogenic
7	41967670	ACTTGTTTTAGC	A	G41967674T	GLI3	NM_000168.6(GLI3):c.2346_2356del:p.Arg782fs	coding	Pathogenic
7	41967671	CTTGTT	C	G41967674A	GLI3	NM_000168.6(GLI3):c.2351_2355del:p.Lys784fs	coding	Pathogenic
7	41967774	GT	G	T41967775C	GLI3	NM_000168.6(GLI3):c.2252del:p.Asp751fs	coding	Pathogenic
7	41967820	CCTCCATCGGTCAGAGGAAG	C	C41967824G	GLI3	NM_000168.6(GLI3):c.2188_2206del:p.Leu730fs	coding	Pathogenic
7	41967828	GGT	G	G41967829C	GLI3	NM_000168.6(GLI3):c.2197_2198del:p.Thr733fs	coding	Pathogenic
7	41967854	T	TG	A41967857G	GLI3	NM_000168.6(GLI3):c.2172dup:p.Asn725fs	coding	Pathogenic
7	41967869	TG	T	G41967874A	GLI3	NM_000168.6(GLI3):c.2157del:p.Ile720fs	coding	Pathogenic
7	41967887	TG	T	G41967888C	GLI3	NM_000168.6(GLI3):c.2139del:p.Ser712_Cys713insTer	coding	Pathogenic
7	41972381	CC	AT	C41972381A	GLI3	NM_000168.6(GLI3):c.2058_2059delinsAT:p.Glu687Ter	coding	Pathogenic
7	41972407	TC	T	C41972409T	GLI3	NM_000168.6(GLI3):c.2032del:p.Asp678fs	coding	Pathogenic
7	41972416	TC	T	C41972417A	GLI3	NM_000168.6(GLI3):c.2023del:p.Glu675fs	coding	Pathogenic
7	41972427	TC	T	C41972430T	GLI3	NM_000168.6(GLI3):c.2012del:p.Gly671fs	coding	Pathogenic
7	41972433	AGTCG	A	T41972439C	GLI3	NM_000168.6(GLI3):c.1999_2002CGAC[1]:p.Pro668fs	coding	Pathogenic
7	41972561	GT	G	T41972564C	GLI3	NM_000168.6(GLI3):c.1878del:p.Lys626fs	coding	Pathogenic
7	41977591	GC	G	C41977592G	GLI3	NM_000168.6(GLI3):c.1778del:p.Arg593fs	coding	Pathogenic
7	41977672	GT	G	T41977673G	GLI3	NM_000168.6(GLI3):c.1697del:p.His566fs	coding	Pathogenic
7	41978628	GTC	G	C41978630T	GLI3	NM_000168.6(GLI3):c.1616_1617del:p.Arg539fs	coding	Pathogenic
7	41978667	AG	A	G41978670T	GLI3	NM_000168.6(GLI3):c.1578del:p.Phe527fs	coding	Pathogenic
7	42023465	T	TACGTGCACAAGCTGCTCTTGGGTGTCGAACTCCCTCGC	G42023504A	GLI3	NM_000168.6(GLI3):c.1462_1497+2dup	noncoding	Pathogenic
7	42023475	A	AGCTGCTCTTGGGTGTCGAACTCCCTC	G42023504T	GLI3	NM_000168.6(GLI3):c.1464_1489dup:p.Leu497fs	coding	Pathogenic
7	42023530	CAT	C	T42023532G	GLI3	NM_000168.6(GLI3):c.1433_1434del:p.Ile477_Tyr478insTer	coding	Pathogenic
7	42026234	CGGGGTTCAGAACCGTA	C	G42026238A	GLI3	NM_000168.6(GLI3):c.1191_1206del:p.Thr398fs	coding	Pathogenic
7	42026427	T	TA	G42026435A	GLI3	NM_000168.6(GLI3):c.1029-22dup	noncoding	Benign/Likely_benign
7	42040047	CT	C	T42040049G	GLI3	NM_000168.6(GLI3):c.1018del:p.Ser340fs	coding	Pathogenic
7	42040180	TG	T	G42040182A	GLI3	NM_000168.6(GLI3):c.885del:p.Ile296fs	coding	Pathogenic
7	42040184	CAGTGT	C	G42040186C	GLI3	NM_000168.6(GLI3):c.877_881del:p.Thr293fs	coding	Pathogenic
7	42045459	AG	A	G42045463C	GLI3	NM_000168.6(GLI3):c.750del:p.Tyr251fs	coding	Pathogenic
7	42148135	GCA	G	C42148176G	GLI3	NM_000168.6(GLI3):c.367+49TG[20]	noncoding	Benign
7	44073397	TC	T	C44073399G	POLM	NM_013284.4(POLM):c.1399-21del	coding	Benign
7	44108060	T	TA	C44108062A	AEBP1	NM_001129.5(AEBP1):c.917dup:p.Tyr306Ter	coding	Pathogenic
7	44110261	GCCAGGAC	G	G44110266T	AEBP1	NM_001129.5(AEBP1):c.1320_1326del:p.Arg440fs	coding	Pathogenic
7	44110793	AC	A	C44110794G	AEBP1	NM_001129.5(AEBP1):c.1470del:p.Asn490fs	coding	Pathogenic
7	44144376	TG	T	G44144377A	GCK	NM_000162.5(GCK):c.*759del	noncoding	Benign
7	44145170	A	ACCG	A44145177C	GCK	NM_000162.5(GCK):c.1358_1360CGG[3]:p.Ala454dup	coding	Pathogenic
7	44145221	AAGGTGATCTCGCAGCTGGGCGTCAGCCTGCGCACGCTGGCATGGAACCGCTCCTTGAAGCTGGGCAGAAGAGAAGCAGG	A	A44145222G	GCK	NM_000162.5(GCK):c.1254-20_1312del	coding	Pathogenic
7	44145586	G	GC	G44145590C	GCK	NM_000162.5(GCK):c.1163dup:p.Val389fs	coding	Pathogenic
7	44145594	G	GC	G44145599C	GCK	NM_000162.5(GCK):c.1155dup:p.Leu386fs	coding	Pathogenic
7	44145600	CCGAGCACATGTGCGCAG	C	A44145603C	GCK	NM_000162.5(GCK):c.1133_1149del:p.Ala378fs	coding	Pathogenic
7	44145695	AG	A	G44145697A	GCK	NM_000162.5(GCK):c.1054del:p.Ile351_Leu352insTer	coding	Pathogenic
7	44145715	G	GCGGT	C44145722G	GCK	NM_000162.5(GCK):c.1031_1034dup:p.Lys346fs	coding	Pathogenic
7	44146478	AC	A	C44146479G	GCK	NM_000162.5(GCK):c.1003del:p.Val335fs	coding	Pathogenic/Likely_pathogenic
7	44147658	AC	A	C44147660G	GCK	NM_000162.5(GCK):c.854del:p.Gly285fs	coding	Pathogenic
7	44147733	G	GAAGGCGCCCCACTCGGT	T44147752A	GCK	NM_000162.5(GCK):c.763_779dup:p.Phe260fs	coding	Pathogenic
7	44147826	GC	G	C44147829G	GCK	NM_000162.5(GCK):c.686del:p.Gly229fs	coding	Pathogenic
7	44149757	TACCC	T	C44149760G	GCK	NM_000162.5(GCK):c.678_679+2del	noncoding	Pathogenic
7	44150062	GC	G	C44150065T	GCK	NM_033507.2(GCK):c.488del:p.Gly163Alafs	coding	Pathogenic
7	44150939	CCCTCCACCCGGCCCA	C	C44150943T	GCK	NM_000162.5(GCK):c.483+2_483+16del	noncoding	Pathogenic
7	44150998	GC	G	C44151001A	GCK	NM_000162.5(GCK):c.440del:p.Gly147fs	coding	Pathogenic
7	44151002	A	AGG	C44151007G	GCK	NM_000162.5(GCK):c.435_436dup:p.Leu146fs	coding	Pathogenic
7	44151007	CA	C	A44151008G	GCK	NM_000162.5(GCK):c.431del:p.Leu144fs	coding	Pathogenic
7	44152300	CGGGGATGGAGTACATCT	C	G44152303T	GCK	NM_000162.5(GCK):c.317_333del:p.Gln106fs	coding	Pathogenic
7	44152338	CA	C	A44152339C	GCK	NM_000162.5(GCK):c.295del:p.Trp99fs	coding	Pathogenic
7	44152342	GC	G	C44152346T	GCK	NM_000162.5(GCK):c.291del:p.Gln98fs	coding	Pathogenic
7	44153360	T	TG	T44153364G	GCK	NM_000162.5(GCK):c.148dup:p.His50fs	coding	Pathogenic
7	44159345	G	GC	A44159347C	GCK	NM_000162.5(GCK):c.46-5883dup	noncoding	Benign
7	45000353	AG	A	G45000356C	CCM2	NM_031443.3(CCM2):c.23del:p.Gly8fs	coding	Pathogenic
7	45000368	GC	TT	G45000368T	CCM2	NM_031443.3(CCM2):c.30+5_30+6delinsTT	noncoding	Pathogenic
7	45038264	C	CATTTAAACGAGTATTTAAA	T45038265A	CCM2	NM_001029835.2(CCM2):c.105_106insATTTAAACGAGTATTTAAA:p.Ser36delinsIleTer	coding	Pathogenic
7	45038291	AG	A	G45038293T	CCM2	NM_001029835.2(CCM2):c.134del:p.Gly45fs	coding	Pathogenic
7	45038319	CATGAGAAGGTGACAGAGAGGCGCCCT	C	A45038320C	CCM2	NM_031443.4(CCM2):c.98_123del:p.His33fs	coding	Pathogenic
7	45038341	GC	G	C45038344T	CCM2	NM_001029835.2(CCM2):c.185del:p.Pro62fs	coding	Pathogenic
7	45038348	GCA	G	A45038352T	CCM2	NM_031443.4(CCM2):c.130_131del:p.Thr44fs	coding	Pathogenic
7	45038385	CCAGA	C	A45038391T	CCM2	NM_001029835.2(CCM2):c.228_231AGAC[1]:p.Arg78fs	coding	Pathogenic
7	45038395	T	TG	C45038397G	CCM2	NM_001029835.2(CCM2):c.237dup:p.Leu80fs	coding	Pathogenic
7	45038415	A	AAG	G45038418A	CCM2	NM_001029835.2(CCM2):c.257_258dup:p.Glu87fs	coding	Pathogenic
7	45063931	TAA	T	A45063932C	CCM2	NM_001029835.2(CCM2):c.282_283del:p.Leu94fs	coding	Pathogenic
7	45064466	GC	G	C45064469A	CCM2	NM_001029835.2(CCM2):c.358del:p.His120fs	coding	Pathogenic
7	45064486	CT	C	T45064488G	CCM2	NM_001029835.2(CCM2):c.377del:p.His125_Leu126insTer	coding	Pathogenic
7	45064575	T	TGCCC	A45064580G	CCM2	NM_001029835.2(CCM2):c.465_468dup:p.Ile157fs	coding	Pathogenic
7	45069896	ACTTT	A	T45069899G	CCM2	NM_001029835.2(CCM2):c.746_749del:p.Phe249fs	coding	Pathogenic
7	45075954	A	AC	G45075957C	CCM2	NM_001029835.2(CCM2):c.1297dup:p.Arg433fs	coding	Pathogenic/Likely_pathogenic
7	45075969	CAG	C	A45075972G	CCM2	NM_001029835.2(CCM2):c.1311_1312AG[1]:p.Glu438fs	coding	Pathogenic/Likely_pathogenic
7	47424192	GGA	G	G47424203A	TNS3	NM_022748.12(TNS3):c.390-20TC[5]	noncoding	Benign
7	47831213	TCA	T	A47831215C	PKD1L1	NM_138295.4(PKD1L1):c.6473+2_6473+3del	noncoding	Pathogenic
7	48273997	T	TA	C48274005A	ABCA13	NM_152701.5(ABCA13):c.4338dup:p.Pro1447fs	coding	Pathogenic
7	48644607	TTG	T	T48644608C	ABCA13	NM_152701.5(ABCA13):c.14944-9_14944-8del	noncoding	Benign
7	50561042	CCTCT	C	T50561050C	DDC	NM_001082971.2(DDC):c.-29+4233AG[3]	noncoding	Benign
7	55173985	AAAC	A	A55173986T	EGFR	NM_005228.5(EGFR):c.2127_2129del:p.Glu709_Thr710delinsAsp	coding	Pathogenic
7	55181312	GCG	TCT	G55181312T	EGFR	NM_005228.5(EGFR):c.2303_2305delinsTCT:p.Ser768_Val769delinsIleLeu	coding	Pathogenic
7	55181312	GC	TT	G55181312T	EGFR	NM_005228.5(EGFR):c.2303_2304delinsTT:p.Ser768Ile	coding	Pathogenic
7	55181319	C	CGGGTTG	A55181320G	EGFR	NM_005228.5(EGFR):c.2310_2311insGGGTTG:p.Asn771_Pro772insGlyLeu	coding	Pathogenic
7	55181320	A	AACC	C55181324A	EGFR	NM_005228.5(EGFR):c.2312_2314dup:p.Pro772_His773insHis	coding	Pathogenic
7	56073066	CTT	C	T56073068G	SUMF2	NM_015411.4(SUMF2):c.296_297del:p.Phe99fs	coding	Benign
7	56076831	CA	C	A56076832G	SUMF2	NM_015411.4(SUMF2):c.536-2del	noncoding	Pathogenic
7	65960977	ATC	A	T65960984G	GUSB	NM_000181.4(GUSB):c.1868_1869GA[3]:p.Arg625fs	coding	Pathogenic
7	65961067	CAA	C	A65961080G	GUSB	NM_000181.4(GUSB):c.1790-6_1790-5del	noncoding	Benign
7	65961067	CA	C	A65961081G	GUSB	NM_000181.4(GUSB):c.1790-5del	noncoding	Benign
7	65973675	TGA	T	G65973676A	GUSB	NM_000181.4(GUSB):c.1391+618_1391+619del	noncoding	Pathogenic
7	65979372	T	TGA	G65979378A	GUSB	NM_000181.4(GUSB):c.724+23TC[3]	noncoding	Benign
7	66081882	ACCGGCAC	A	C66081884T	ASL	NM_000048.4(ASL):c.94_100del:p.Arg32fs	coding	Pathogenic
7	66081946	AG	A	G66081949C	ASL	NM_000048.4(ASL):c.159del:p.Leu54fs	coding	Pathogenic
7	66082878	AG	A	G66082880A	ASL	NM_000048.3(ASL):c.292delG:p.Glu98Serfs	noncoding	Pathogenic
7	66086588	A	ACG	T66086591C	ASL	NM_000048.4(ASL):c.451_452dup:p.Asp152fs	coding	Pathogenic
7	66086749	C	CCGTGGCACTGACCCGAGACTCTGAG	G66086777T	ASL	NM_000048.4(ASL):c.533_557dup:p.Leu187_Leu188insGlyThrAspProArgLeuTer	coding	Pathogenic
7	66086767	ACT	A	C66086770G	ASL	NM_000048.4(ASL):c.551_552del:p.Asp183_Ser184insTer	coding	Pathogenic
7	66086788	T	TGCGGAA	T66086800A	ASL	NM_000048.4(ASL):c.575_580dup:p.Lys192_Arg193dup	coding	Pathogenic
7	66088851	A	AG	A66088854G	ASL	NM_000048.4(ASL):c.765dup:p.Met256fs	coding	Pathogenic
7	66089610	AG	A	G66089612A	ASL	NM_000048.4(ASL):c.979del:p.Glu327Argfs	noncoding	Pathogenic
7	66089675	GGCGTCATCTCTAC	G	G66089678T	ASL	NM_000048.4(ASL):c.1045_1057del:p.Val349fs	coding	Pathogenic/Likely_pathogenic
7	66089676	GCGTCATCTCTACGCTGCAGGCAAGA	G	G66089678A	ASL	NM_000048.4(ASL):c.1045_1062+7del	coding	Pathogenic
7	66092063	G	GC	T66092066C	ASL	NM_000048.4(ASL):c.1122dup:p.Tyr375fs	coding	Pathogenic
7	66092585	CC	AA	C66092585A	ASL	NM_000048.4(ASL):c.1172_1173delinsAA:p.Ser391Ter	coding	Pathogenic
7	66092771	CCT	C	C66092772G	ASL	NM_000048.4(ASL):c.1255_1256del:p.Leu419fs	coding	Pathogenic/Likely_pathogenic
7	66638267	TC	T	C66638269T	KCTD7	NM_153033.5(KCTD7):c.331del:p.Leu111fs	coding	Pathogenic
7	66638448	C	CAGGA	T66638453A	KCTD7	NM_001167961.2(KCTD7):c.493+18_493+21dup	noncoding	Benign
7	66638893	TGCGGTCCA	T	T66638898A	KCTD7	NM_153033.4(KCTD7):c.536_543del:p.Val179fs	coding	Pathogenic
7	66638953	GC	G	C66638956A	KCTD7	NM_153033.4(KCTD7):c.594del:p.Ile199fs	coding	Pathogenic
7	66643165	CACA	C	C66643170G	KCTD7	NM_001167961.2(KCTD7):c.*2773_*2775CAA[1]	noncoding	Benign
7	66993301	CTT	C	T66993303G	SBDS	NM_016038.4(SBDS):c.373_374del:p.Lys125fs	coding	Pathogenic
7	66993375	GTCTT	G	C66993381A	SBDS	NM_016038.4(SBDS):c.293_296AAGA[1]:p.Glu99fs	coding	Pathogenic
7	66994286	TA	AG	T66994286A	SBDS	NM_016038.2(SBDS):c.183_184delTAinsCT:p.Lys62Ter	coding	Pathogenic
7	66995297	TC	T	C66995299G	SBDS	NM_016038.4(SBDS):c.120del:p.Ser41fs	coding	Pathogenic
7	66995399	TG	T	G66995404T	SBDS	NM_016038.4(SBDS):c.18del:p.Thr7fs	coding	Pathogenic
7	66995404	GT	G	T66995405G	SBDS	NM_016038.4(SBDS):c.13del:p.Thr5fs	coding	Pathogenic
7	69899331	A	ACGCCC	T69899338G	AUTS2	NM_015570.4(AUTS2):c.357_361dup:p.Leu121fs	coding	Pathogenic
7	70435787	A	AC	T70435795C	AUTS2	NM_015570.4(AUTS2):c.690+13dup	noncoding	Benign
7	70762982	CAA	C	A70762984G	AUTS2	NM_015570.4(AUTS2):c.857_858del:p.Lys286fs	coding	Pathogenic
7	70763126	A	AC	A70763132C	AUTS2	NM_015570.4(AUTS2):c.1004dup:p.Pro336fs	coding	Pathogenic
7	70764834	CT	C	T70764835C	AUTS2	NM_015570.4(AUTS2):c.1298del:p.Leu433fs	coding	Pathogenic
7	70766131	CA	C	A70766132G	AUTS2	NM_015570.4(AUTS2):c.1487del:p.Gln496fs	coding	Pathogenic
7	70766175	C	CG	C70766180G	AUTS2	NM_015570.4(AUTS2):c.1534dup:p.Ala512fs	coding	Pathogenic
7	70766189	G	GC	T70766193C	AUTS2	NM_015570.4(AUTS2):c.1547dup:p.Pro517fs	coding	Pathogenic
7	70774077	CTT	C	T70774079A	AUTS2	NM_015570.4(AUTS2):c.1882_1883del:p.Leu628fs	coding	Pathogenic
7	70787239	G	GC	A70787244C	AUTS2	NM_015570.4(AUTS2):c.2343dup:p.Ser782fs	coding	Pathogenic
7	70790590	G	GCCACCA	C70790617A	AUTS2	NM_015570.4(AUTS2):c.3377_3379ACC[10]:p.His1132_His1133dup	coding	Benign
7	74028228	T	TC	T74028231C	ELN	NM_000501.4(ELN):c.43dup:p.Leu15fs	coding	Pathogenic
7	74028249	T	TCCACC	T74028257A	ELN	NM_000501.4(ELN):c.65_69dup:p.Ser24fs	coding	Pathogenic
7	74035410	TC	T	C74035412A	ELN	NM_000501.4(ELN):c.131del:p.Pro44fs	coding	Pathogenic
7	74037710	TG	T	G74037714C	ELN	NM_000501.4(ELN):c.171del:p.Pro58fs	coding	Pathogenic
7	74042657	GC	G	C74042659T	ELN	NM_000501.4(ELN):c.278del:p.Pro93fs	coding	Pathogenic
7	74042674	ACG	A	G74042676T	ELN	NM_000501.4(ELN):c.295_296del:p.Ala99fs	coding	Pathogenic/Likely_pathogenic
7	74043123	GT	G	T74043124G	ELN	NM_000501.4(ELN):c.383del:p.Val128fs	coding	Pathogenic
7	74043154	C	CT	G74043156T	ELN	NM_000501.4(ELN):c.414dup:p.Gly139fs	coding	Pathogenic
7	74043155	TG	T	G74043158A	ELN	NM_000501.4(ELN):c.417del:p.Val141fs	coding	Pathogenic
7	74043882	TG	T	G74043886C	ELN	NM_000501.4(ELN):c.435del:p.Leu146fs	coding	Pathogenic
7	74045227	CG	C	G74045229T	ELN	NM_000501.4(ELN):c.477del:p.Phe160fs	coding	Pathogenic
7	74046709	TG	T	G74046714A	ELN	NM_000501.4(ELN):c.590del:p.Gly197fs	coding	Pathogenic
7	74046729	TC	T	C74046732A	ELN	NM_000501.4(ELN):c.608del:p.Pro203fs	coding	Pathogenic
7	74046768	GT	AG	G74046768A	ELN	NM_000501.4(ELN):c.643+1_643+2delinsAG	noncoding	Pathogenic
7	74048501	AG	A	G74048505T	ELN	NM_001278939.1(ELN):c.748del	noncoding	Pathogenic
7	74051789	C	CTGGT	G74051794T	ELN	NM_000501.4(ELN):c.840_843dup:p.Val282fs	coding	Pathogenic
7	74051796	T	TC	T74051799C	ELN	NM_000501.4(ELN):c.848dup:p.Gly284fs	coding	Pathogenic
7	74051808	T	TG	C74051813G	ELN	NM_000501.4(ELN):c.862dup:p.Ala288fs	coding	Pathogenic
7	74051817	TC	T	C74051819T	ELN	NM_000501.4(ELN):c.869del:p.Pro290fs	coding	Pathogenic
7	74051834	TC	T	C74051835G	ELN	NM_000501.4(ELN):c.885del:p.Ile295fs	coding	Pathogenic
7	74051948	CAGCTGCAGCAGCAGCC	GCT	C74051948G	ELN	NM_000501.4(ELN):c.914_930delinsGCT:p.Ala305fs	coding	Pathogenic
7	74053250	TC	T	C74053253A	ELN	NM_000501.4(ELN):c.1040del:p.Pro347fs	coding	Pathogenic
7	74053320	CTGTG	C	G74053356A	ELN	NM_000501.4(ELN):c.1096+12TG[17]	noncoding	Benign
7	74053320	CTGTGTG	C	G74053354A	ELN	NM_000501.4(ELN):c.1096+12TG[16]	noncoding	Benign
7	74054718	GT	G	T74054720G	ELN	NM_000501.4(ELN):c.1101del:p.Val368fs	coding	Pathogenic
7	74054719	TTG	T	G74054723C	ELN	NM_000501.4(ELN):c.1104_1105del:p.Ser369fs	coding	Pathogenic
7	74054730	G	GA	G74054733A	ELN	NM_000501.4(ELN):c.1113dup:p.Ala372fs	coding	Pathogenic
7	74056278	GC	G	C74056281G	ELN	NM_000501.4(ELN):c.1161del:p.Gly388fs	coding	Pathogenic
7	74056309	T	TA	C74056311A	ELN	NM_000501.4(ELN):c.1190dup:p.Tyr397Ter	coding	Pathogenic
7	74056311	CG	C	G74056315T	ELN	NM_000501.4(ELN):c.1195del:p.Val399fs	coding	Pathogenic
7	74056323	TG	T	G74056328C	ELN	NM_000501.4(ELN):c.1208del:p.Gly403fs	coding	Pathogenic
7	74056346	TC	T	C74056347G	ELN	NM_000501.4(ELN):c.1227del:p.Gly410fs	coding	Pathogenic
7	74059952	GA	G	A74059953G	ELN	NM_000501.4(ELN):c.1482del:p.Val495fs	coding	Pathogenic
7	74060469	G	GA	G74060471A	ELN	NM_000501.4(ELN):c.1716dup:p.Val573fs	coding	Pathogenic
7	74060494	CG	C	G74060498C	ELN	NM_000501.4(ELN):c.1744del:p.Ala582fs	coding	Pathogenic
7	74063182	CT	C	T74063183C	ELN	NM_000501.4(ELN):c.1817del:p.Leu606fs	coding	Pathogenic
7	74063627	TGGGAGCCGCTGGGCTCGGAGGACTC	T	G74063630A	ELN	NM_000501.4(ELN):c.1928_1952del:p.Gly643fs	coding	Pathogenic
7	74065968	TA	T	A74065969G	ELN	NM_000501.4(ELN):c.2058del:p.Gly688fs	coding	Pathogenic
7	74069201	C	CA	T74069202A	ELN	NM_000501.4(ELN):c.*501_*502insA	noncoding	Benign
7	74777266	GGT	G	G74777269A	NCF1	NM_000265.6(NCF1):c.73_74GT[1]:p.Tyr26fs	coding	Pathogenic
7	74779113	C	CA	G74779115A	NCF1	NM_000265.6(NCF1):c.186dup:p.Gly63fs	coding	Pathogenic
7	74782988	CG	C	G74782989A	NCF1	NM_000265.6(NCF1):c.502del:p.Glu168fs	coding	Pathogenic
7	74787993	CG	C	G74787994T	NCF1	NM_000265.6(NCF1):c.811del:p.Val271fs	coding	Pathogenic
7	75981033	CCT	C	C75981034G	POR	NM_000941.3(POR):c.517-14_517-13del	noncoding	Benign/Likely_benign
7	75981098	G	GTACGTGGACAAGC	G75981112T	POR	NM_000941.3(POR):c.568_580dup:p.Arg194fs	coding	Pathogenic
7	75985132	G	GC	A75985139C	POR	NM_000941.3(POR):c.1329dup:p.Ile444fs	coding	Pathogenic
7	75985750	C	CCCTTCAAGGCCACCACGCCTGTCATCATGGTGGGCCCCGGCACCGGGGT	G75985800C	POR	NM_000941.3(POR):c.1571_1619dup:p.Ala541fs	coding	Pathogenic
7	75986177	CTAAAGCAAGACCGAGAGCACCTGT	C	T75986178G	POR	NM_000941.3(POR):c.1835_1858del:p.Leu612_Trp620delinsArg	coding	Pathogenic
7	76063553	TG	T	G76063555C	MDH2	NM_005918.4(MDH2):c.596del:p.Gly199fs	coding	Pathogenic
7	76302883	C	CGCGCCCT	C76302884G	HSPB1	NM_001540.5(HSPB1):c.171_172insGCGCCCT:p.Leu58fs	coding	Pathogenic
7	76302886	G	GC	G76302893C	HSPB1	NM_001540.5(HSPB1):c.180dup:p.Ala61fs	coding	Pathogenic/Likely_pathogenic
7	76304059	CA	C	A76304060T	HSPB1	NM_001540.5(HSPB1):c.505del:p.Met169fs	coding	Pathogenic
7	76304062	GC	G	C76304065A	HSPB1	NM_001540.5(HSPB1):c.510del:p.Lys171fs	coding	Pathogenic/Likely_pathogenic
7	76304065	CA	C	A76304067G	HSPB1	NM_001540.5(HSPB1):c.512del:p.Lys171fs	coding	Pathogenic/Likely_pathogenic
7	76440343	TGAG	T	G76440349C	ZP3	NM_001110354.2(ZP3):c.923+8_923+10del	noncoding	Benign
7	77377400	CAAA	C	A77377420G	GSAP	NM_017439.4(GSAP):c.577-13_577-11del	noncoding	Benign
7	78019684	GC	G	C78019686G	MAGI2	NM_012301.4(MAGI2):c.3998del:p.Gly1333fs	coding	Pathogenic
7	78125727	T	TTCTGCCAG	C78125739G	MAGI2	NM_012301.4(MAGI2):c.3526_3533dup:p.Glu1178fs	coding	Pathogenic
7	79453249	CGGGTTCCT	C	G79453251C	MAGI2	NM_012301.4(MAGI2):c.64_71del:p.Arg22fs	coding	Pathogenic
7	80656572	TA	T	A80656577T	CD36	NM_001001547.3(CD36):c.158del:p.Asn53fs	coding	Benign
7	80661109	AAC	A	C80661113G	CD36	NM_001001547.3(CD36):c.330_331CA[1]:p.Thr111fs	coding	Pathogenic
7	80664497	G	GGTAA	T80664505A	CD36	NM_001001547.3(CD36):c.701+4_701+7dup	coding	Benign
7	80672795	CA	C	A80672799C	CD36	NM_001001547.3(CD36):c.1155del:p.Lys385fs	coding	Pathogenic
7	80673381	ATATTGTGCCTAT	A	A80673383C	CD36	NM_001001547.3(CD36):c.1228_1239del:p.Ile410_Ile413del	coding	Pathogenic/Likely_pathogenic
7	80765250	T	TA	G80765258A	SEMA3C	NM_006379.5(SEMA3C):c.1355-14dup	noncoding	Benign
7	81950516	T	TA	G81950527A	CACNA2D1	NM_000722.4(CACNA2D1):c.3160-18dup	noncoding	Benign
7	81961798	GTAATGATTATAACAGTATATACAATTTCT	G	T81961834A	CACNA2D1	NM_000722.4(CACNA2D1):c.2966+67_2966+95del	noncoding	Benign
7	81964198	AT	A	T81964200A	CACNA2D1	NM_000722.4(CACNA2D1):c.2727+8del	noncoding	Benign/Likely_benign
7	81974555	GA	G	A81974564C	CACNA2D1	NM_000722.4(CACNA2D1):c.1956-4del	noncoding	Benign/Likely_benign
7	81974555	G	GAAA	C81974565A	CACNA2D1	NM_000722.4(CACNA2D1):c.1956-12_1956-10dup	noncoding	Benign
7	81974555	G	GAA	C81974565A	CACNA2D1	NM_000722.4(CACNA2D1):c.1956-12_1956-11dup	noncoding	Benign
7	81974555	G	GA	C81974565A	CACNA2D1	NM_000722.4(CACNA2D1):c.1956-12dup	noncoding	Benign
7	81974786	A	AGTATTAG	T81974789A	CACNA2D1	NM_000722.4(CACNA2D1):c.1956-235_1956-234insACCTAAT	noncoding	Benign
7	81991253	AG	A	G81991254A	CACNA2D1	NM_000722.4(CACNA2D1):c.1735-8del	noncoding	Benign/Likely_benign
7	82005506	GA	G	A82005520G	CACNA2D1	NM_000722.4(CACNA2D1):c.1516-10del	noncoding	Benign
7	82005854	CA	C	A82005860T	CACNA2D1	NM_000722.4(CACNA2D1):c.1441-16del	noncoding	Benign
7	82012254	G	GAAAA	G82012268A	CACNA2D1	NM_000722.4(CACNA2D1):c.1273-24_1273-21dup	noncoding	Benign
7	82012254	G	GAAA	G82012268A	CACNA2D1	NM_000722.4(CACNA2D1):c.1273-24_1273-22dup	noncoding	Benign
7	82066526	TA	T	A82066542G	CACNA2D1	NM_000722.4(CACNA2D1):c.659-3del	noncoding	Benign
7	82066526	T	TA	G82066543A	CACNA2D1	NM_000722.4(CACNA2D1):c.659-18dup	noncoding	Benign
7	82136680	CA	C	A82136690G	CACNA2D1	NM_000722.4(CACNA2D1):c.355-5del	noncoding	Benign
7	82136680	C	CAA	G82136691A	CACNA2D1	NM_000722.4(CACNA2D1):c.355-14_355-13dup	noncoding	Benign
7	82136680	C	CA	G82136691A	CACNA2D1	NM_000722.4(CACNA2D1):c.355-14dup	noncoding	Benign
7	82335262	G	GA	C82335273A	CACNA2D1	NM_000722.4(CACNA2D1):c.178-21dup	noncoding	Benign
7	82443339	G	GCTC	C82443344T	CACNA2D1	NM_000722.4(CACNA2D1):c.95+23_95+25dup	noncoding	Benign
7	83155155	AGCCAGGCTGTTGAGGTGGGGGCTTTGCTGG	A	T83155193A	PCLO	NM_033026.6(PCLO):c.1426_1455CCAGCAAAGCCCCCACCTCAACAGCCTGGC[1]:p.476_485PAKPPPQQPG[1]	coding	Benign
7	83155515	T	TGTG	C83155516G	PCLO	NM_033026.6(PCLO):c.1125_1126insCAC:p.Thr376_Gly377insHis	coding	Benign
7	83155517	T	TGAGCTGGAGGCTTAGCAGGACCAAGAG	C83155519A	PCLO	NM_033026.6(PCLO):c.1123_1124insCTCTTGGTCCTGCTAAGCCTCCAGCTC:p.Gln375_Thr376insProLeuGlyProAlaLysProProAla	coding	Benign
7	83155517	T	TGCTGAGCTGGAGGCTTAGCAGGACCAAGAG	T83155564A	PCLO	NM_033026.6(PCLO):c.1094_1123dup:p.Pro365_Gln374dup	coding	Benign
7	85042293	GA	G	A85042303T	SEMA3D	NM_152754.2(SEMA3D):c.862-9del	noncoding	Benign
7	85042293	G	GA	T85042304A	SEMA3D	NM_152754.2(SEMA3D):c.862-18dup	noncoding	Benign
7	87402211	A	AT	A87402214T	ABCB4	NM_000443.4(ABCB4):c.3724dup:p.Ile1242fs	coding	Pathogenic/Likely_pathogenic
7	87406277	C	CT	A87406281T	ABCB4	NM_000443.4(ABCB4):c.3486+8dup	noncoding	Benign/Likely_benign
7	87409239	CT	C	T87409241C	ABCB4	NM_000443.4(ABCB4):c.3077del:p.Lys1026fs	coding	Pathogenic
7	87413271	CACTGCAAAGAAAGGTTTGAGCAATTCCTTAAAGGAATGTTTGTCTTAAGTCACCCAGATAGGTTATTTATGTTGCCTGCACTGATAACCAAAGACTGTGCAATTCTCTATATCTTTTACGTCTTGGAGACCTATTCTTGTTGTTTGCATAAGATGTAAAAAATATAATTCTGTGTCCTAGTCACATCAAAAAGCTACTTATTTTCAGTGACAGAATTGTTGAAAAAAGGCCACCCTTATAGTCATATCATTGTTTGGAGCAGCAGAGCTTTTATTATCTTTTTGGGACAATAATTCAGCCTTAGGAAAGCACTAGGTTCTTAGCAGGAATCATATGGTTCATTACCTGTAAGGTCCATACAATTTTTCAACATACATTGATTCAAATTTTCTTTCCTGGGTCAAAGACACAACTGTCCTAATATTTTCTATTGCCTCTGTTGCAATCTGTAACACAGAATAGACCTTCATTAGAAGTGGTGTTTTCACTTCTGAAATAATGAAAAATAAGCCCTAGGGCTCTGTCAAAAGTATCCTGAAGGTTACGTTGATAGGCTTTAATTTCCTTTAAATTAAAAACCAAAGGCATAATCTGTTCAAGACTAGCTTTATGACAAAACTGGTACTTCTGGCTGTGCTAAGTATGGTAGGCAAGTCTTTGTATGCTCAGGAAGGCTGATCAGCTAAGGGCAAGAACTGTGGCCTGGGAACCAAGGGCCTGGTTCTATTCCCAGCCTGCCACCAGGCAGTTACATGACTGGCCTTAGTCACAACCCCTTTGTGGCCTGGCTTTCTTCACAAGGCAGAGTCCTAAAAGAAAGGATTAGGCTGTGATTTCTAAGGGCCTATTGGAGCTGCCAATTATTTCCTCCCTGAGTATAACTTCTTATAAAAGCTGTCCACCCACAATGGGAAGGAGATCCCAATTGTCAACAACATGAGCATGCTTTAAATCCGTGATTAAATCAGAGTCAGACATCTGACTAATCTGGGTCAATCAGATTTGGTTTCCTGGCCCTGGACACAAGTTTGAACCGTGAGGCCCTGGGGCTTCAGAGGCTGATGTCACATTGGGTATGTGTAAGAAGCTGGTCTGAATATACAGCATCCGAGGAATGGAATAGATGTATAGGAAGACTCAGATATTAGAGCCTGTGGCTGTAAGAGCCAGTTACACACAAACTGCCTGTATTTCTTGCACTTTGGAGTGTCCTTATATCAAATCGCTTTTACCCAAACCAGCCAGAGCAGTTCTCTGATTCTTACAGCCAAACCACCCTTGACAAATGTTGATTGTCTGTGACTTAGCTATTTAGTCTAAATCTTAGTT	C	A87413272C	ABCB4	NM_000443.4(ABCB4):c.2683-883_2783+345del	noncoding	Pathogenic
7	87417368	TC	AT	T87417368A	ABCB4	NM_000443.4(ABCB4):c.2625_2626delinsAT:p.Met875_Lys876delinsIleTer	coding	Pathogenic
7	87418568	CT	C	T87418570G	ABCB4	NM_000443.4(ABCB4):c.2446del:p.Arg816fs	coding	Pathogenic
7	87423947	G	GC	A87423954C	ABCB4	NM_000443.4(ABCB4):c.2169dup:p.Leu724fs	coding	Pathogenic
7	87424028	AGGACACT	A	A87424031T	ABCB4	NM_000443.4(ABCB4):c.2082_2088del:p.Val695fs	coding	Pathogenic
7	87426769	TC	T	C87426770A	ABCB4	NM_000443.4(ABCB4):c.2044del:p.Asp682fs	coding	Pathogenic
7	87426870	CT	C	T87426874C	ABCB4	NM_000443.4(ABCB4):c.1943del:p.Lys648fs	coding	Pathogenic
7	87439685	TA	T	A87439686C	ABCB4	NM_000443.4(ABCB4):c.1712del:p.Val571fs	coding	Pathogenic
7	87439750	TGCGAACCAGGGCA	CCTGAATGG	T87439750C	ABCB4	NM_000443.4(ABCB4):c.1635_1648delinsCCATTCAGG:p.Ala546fs	coding	Pathogenic
7	87440205	TA	T	A87440207T	ABCB4	NM_000443.4(ABCB4):c.1553del:p.Leu518fs	coding	Pathogenic
7	87443346	CT	TTG	C87443346T	ABCB4	NM_000443.4(ABCB4):c.1328_1329delinsCAA:p.Gln443fs	coding	Pathogenic
7	87444965	GA	G	A87444974C	ABCB4	NM_000443.4(ABCB4):c.1015del:p.Ser339fs	coding	Pathogenic
7	87444965	G	GA	C87444975A	ABCB4	NM_000443.4(ABCB4):c.1015dup:p.Ser339fs	coding	Pathogenic
7	87447159	CT	C	T87447165A	ABCB4	NM_000443.4(ABCB4):c.879del:p.Ala294fs	coding	Pathogenic
7	87451721	C	CA	C87451728A	ABCB4	NM_000443.4(ABCB4):c.609dup:p.Ala204fs	coding	Pathogenic
7	87453079	TGTATATA	T	T87453081G	ABCB4	NM_000443.4(ABCB4):c.394_400del:p.Tyr132fs	coding	Pathogenic
7	87472655	G	GT	C87472663T	ABCB4	NM_000443.4(ABCB4):c.100dup:p.Thr34fs	coding	Pathogenic
7	88179029	AG	A	G88179030T	ADAM22	NM_016351.6(ADAM22):c.2301-2475del	coding	Pathogenic
7	90277247	G	GCA	T90277249A	CFAP69	NM_001039706.3(CFAP69):c.1069_1070insAC:p.Leu357fs	coding	Pathogenic
7	92022864	A	AAAC	T92022868A	AKAP9	NM_147185.3(AKAP9):c.4004_4006dup:p.Leu1336_Glu1337insGln	coding	Benign/Likely_benign
7	92040646	GT	G	T92040663A	AKAP9	NM_005751.4(AKAP9):c.4693-11del	noncoding	Benign
7	92052475	G	GA	T92052483A	AKAP9	NM_005751.4(AKAP9):c.5369-244dup	noncoding	Benign
7	92201328	GCT	G	T92201330A	KRIT1	NM_194456.1(KRIT1):c.2119_2120del:p.Ser707fs	coding	Pathogenic
7	92201367	AT	A	T92201368C	KRIT1	NM_194454.3(KRIT1):c.2081del:p.Asp694fs	coding	Pathogenic
7	92213195	CT	C	T92213197A	KRIT1	NM_194454.3(KRIT1):c.2024del:p.Lys675fs	coding	Pathogenic
7	92213249	A	AG	A92213253G	KRIT1	NM_194456.1(KRIT1):c.1970dup:p.Val658fs	coding	Pathogenic
7	92213259	TTA	T	A92213261G	KRIT1	NM_194456.1(KRIT1):c.1959_1960del:p.His653fs	coding	Pathogenic
7	92213287	A	AT	A92213289T	KRIT1	NM_194454.3(KRIT1):c.1932dup:p.Phe645fs	coding	Pathogenic
7	92213365	G	GC	A92213367C	KRIT1	NM_194454.3(KRIT1):c.1854dup:p.His619fs	coding	Pathogenic
7	92213395	TGA	T	G92213398T	KRIT1	NM_004912.4(KRIT1):c.1821_1822TC[1]:p.Leu608fs	coding	Pathogenic
7	92213902	TG	T	G92213903A	KRIT1	NM_194456.1(KRIT1):c.1807del:p.His603fs	coding	Pathogenic
7	92213934	AC	A	C92213935T	KRIT1	NM_194456.1(KRIT1):c.1775del:p.Ser592fs	coding	Pathogenic
7	92213947	G	GT	A92213949T	KRIT1	NM_194456.1(KRIT1):c.1762dup:p.Thr588fs	coding	Pathogenic
7	92213961	G	GGATTTTA	C92213975A	KRIT1	NM_194456.1(KRIT1):c.1742_1748dup:p.Ile584fs	coding	Pathogenic
7	92213970	A	AT	C92213975T	KRIT1	NM_194454.3(KRIT1):c.1739dup:p.Asn580fs	coding	Pathogenic
7	92214603	ATACT	A	A92214609T	KRIT1	NM_194456.1(KRIT1):c.1730+4_1730+7del	noncoding	Pathogenic
7	92214630	GT	G	T92214636A	KRIT1	NM_194456.1(KRIT1):c.1710del:p.Lys570fs	coding	Pathogenic
7	92214637	ACT	A	T92214641A	KRIT1	NM_004912.4(KRIT1):c.1700_1701AG[1]:p.Glu567_Ser568insTer	coding	Pathogenic
7	92214645	AATTTCCATAGACT	A	C92214650G	KRIT1	NM_194456.1(KRIT1):c.1683_1695del:p.Val562fs	coding	Pathogenic
7	92214655	G	GA	C92214657A	KRIT1	NM_194456.1(KRIT1):c.1685dup:p.Tyr563fs	coding	Pathogenic
7	92214683	G	GT	A92214686T	KRIT1	NM_194456.1(KRIT1):c.1657dup:p.Thr553fs	coding	Pathogenic
7	92214707	GTATAAAAGCCCTTCAATAAATTATAT	G	T92214708C	KRIT1	NM_194454.3(KRIT1):c.1608_1633del:p.Arg536fs	coding	Pathogenic
7	92221919	AG	A	G92221922A	KRIT1	NM_194456.1(KRIT1):c.1545del:p.Leu516fs	coding	Pathogenic
7	92221936	CTTCTT	C	T92221937A	KRIT1	NM_194456.1(KRIT1):c.1524_1528del:p.Arg510fs	coding	Pathogenic/Likely_pathogenic
7	92222026	GGT	G	G92222027T	KRIT1	NM_194456.1(KRIT1):c.1437_1438del:p.Lys479fs	coding	Pathogenic
7	92222859	CT	C	T92222860G	KRIT1	NM_194456.1(KRIT1):c.1373del:p.Gln458fs	coding	Pathogenic
7	92222860	TGA	T	A92222862T	KRIT1	NM_194454.3(KRIT1):c.1371_1372del:p.Gln458fs	coding	Pathogenic
7	92222869	TGAGA	T	G92222874C	KRIT1	NM_004912.4(KRIT1):c.1356_1357TC[2]:p.Ser454fs	coding	Pathogenic
7	92222869	TGA	T	G92222876C	KRIT1	NM_194456.1(KRIT1):c.1362_1363del	coding	Pathogenic
7	92222876	GAC	G	A92222877G	KRIT1	NM_194456.1(KRIT1):c.1355_1356del:p.Arg452fs	coding	Pathogenic
7	92222890	AT	A	T92222892A	KRIT1	NM_194456.1(KRIT1):c.1342del:p.Met448fs	coding	Pathogenic
7	92222922	CTTCAA	C	T92222928C	KRIT1	NM_004912.4(KRIT1):c.1301_1305TTGAA[1]:p.Leu436fs	coding	Pathogenic
7	92222950	T	TCC	A92222953C	KRIT1	NM_194454.3(KRIT1):c.1281_1282dup:p.Asp428fs	coding	Pathogenic
7	92222969	CT	C	T92222974C	KRIT1	NM_194454.3(KRIT1):c.1263del:p.Val422fs	coding	Pathogenic
7	92222976	ATAC	A	T92222980A	KRIT1	NM_194456.1(KRIT1):c.1255-1_1256del	coding	Pathogenic
7	92225733	GCTTC	G	C92225738A	KRIT1	NM_004912.4(KRIT1):c.1233_1236GAAG[1]:p.Glu413fs	coding	Pathogenic
7	92225765	GTTGTT	G	T92225772G	KRIT1	NM_004912.4(KRIT1):c.1199_1203AACAA[1]:p.Asn402fs	coding	Pathogenic
7	92225769	TTTTGTTTGTTTTC	T	T92225772C	KRIT1	NM_194456.1(KRIT1):c.1192_1204del:p.Glu398fs	coding	Pathogenic
7	92226527	C	CT	A92226529T	KRIT1	NM_194456.1(KRIT1):c.1144dup:p.Arg382fs	coding	Pathogenic
7	92226563	ATT	TG	A92226563T	KRIT1	NM_194454.3(KRIT1):c.1107_1109delinsCA:p.Glu369fs	coding	Pathogenic
7	92226587	GC	G	C92226588A	KRIT1	NM_194456.1(KRIT1):c.1084del:p.Ala362fs	coding	Pathogenic
7	92226672	CT	C	T92226676C	KRIT1	NM_194456.1(KRIT1):c.999del:p.Val334fs	coding	Pathogenic
7	92234458	T	TAATG	G92234467A	KRIT1	NM_194456.1(KRIT1):c.972_975CATT[3]:p.Tyr327fs	coding	Pathogenic
7	92234500	G	GA	T92234505A	KRIT1	NM_194456.1(KRIT1):c.937dup:p.Ser313fs	coding	Pathogenic/Likely_pathogenic
7	92234524	CTTAGTAA	C	A92234527C	KRIT1	NM_194456.1(KRIT1):c.907_913del:p.Leu303fs	coding	Pathogenic
7	92234578	AC	A	C92234581A	KRIT1	NM_194454.3(KRIT1):c.859del:p.Trp286_Val287insTer	coding	Pathogenic
7	92234810	GT	G	T92234811C	KRIT1	NM_194456.1(KRIT1):c.842del:p.Asp281fs	coding	Pathogenic
7	92234842	A	AT	C92234848T	KRIT1	NM_194456.1(KRIT1):c.810dup:p.Trp271fs	coding	Pathogenic
7	92234865	A	AT	G92234871T	KRIT1	NM_194454.3(KRIT1):c.787dup:p.Ile263fs	coding	Pathogenic
7	92234902	GATTT	G	T92234906A	KRIT1	NM_194456.1(KRIT1):c.747_750del:p.Asn250fs	coding	Pathogenic
7	92235436	AG	A	G92235439T	KRIT1	NM_194454.3(KRIT1):c.695del:p.Pro232fs	coding	Pathogenic
7	92235452	G	GT	A92235454T	KRIT1	NM_194456.1(KRIT1):c.679dup:p.Thr227fs	coding	Pathogenic
7	92235470	GCTAACATTTTACT	G	A92235473T	KRIT1	NM_194454.3(KRIT1):c.649_661del:p.Ser217fs	coding	Pathogenic
7	92235472	T	TA	C92235475A	KRIT1	NM_194456.1(KRIT1):c.659dup:p.Leu220fs	coding	Pathogenic
7	92235548	TATGCAGGATTTATG	T	T92235550C	KRIT1	NM_194454.3(KRIT1):c.570_583del:p.Ile191fs	coding	Pathogenic
7	92236500	T	TA	T92236507A	KRIT1	NM_194456.1(KRIT1):c.397dup:p.Tyr133fs	coding	Pathogenic
7	92241046	T	TC	A92241049C	KRIT1	NM_194454.3(KRIT1):c.208dup:p.Asp70fs	coding	Pathogenic
7	92241099	AACTT	A	A92241100T	KRIT1	NM_194456.1(KRIT1):c.152_155del:p.Lys51fs	coding	Pathogenic
7	92241100	ACTTT	A	T92241107C	KRIT1	NM_194456.1(KRIT1):c.151_154del	coding	Pathogenic
7	92241107	TTC	T	C92241111T	KRIT1	NM_001350671.1(KRIT1):c.-440_-439GA[1]	coding	Pathogenic/Likely_pathogenic
7	92489363	GTGAC	G	G92489369A	PEX1	NM_000466.3(PEX1):c.3689_3692GTCA[1]:p.Gln1231fs	coding	Pathogenic/Likely_pathogenic
7	92489770	CT	C	T92489771C	PEX1	NM_000466.3(PEX1):c.3579del:p.Asp1194fs	coding	Pathogenic
7	92489832	TGTGAAAACAACTG	T	G92489835C	PEX1	NM_000466.3(PEX1):c.3505_3517del:p.Gln1169fs	coding	Pathogenic
7	92489893	CAG	C	G92489899C	PEX1	NM_000466.3(PEX1):c.3451_3452CT[2]:p.Ser1152fs	coding	Pathogenic/Likely_pathogenic
7	92489923	ATT	A	T92489924G	PEX1	NM_000466.3(PEX1):c.3439-14_3439-13del	noncoding	Benign/Likely_benign
7	92491330	C	CG	T92491333G	PEX1	NM_000466.3(PEX1):c.3379dup:p.Arg1127fs	coding	Pathogenic
7	92491405	C	CAT	T92491408A	PEX1	NM_000466.3(PEX1):c.3303_3304dup:p.Cys1102fs	coding	Pathogenic/Likely_pathogenic
7	92493088	TAG	T	A92493093T	PEX1	NM_000466.3(PEX1):c.3066_3067CT[2]:p.Leu1024fs	coding	Pathogenic
7	92494319	A	AT	A92494323T	PEX1	NM_000466.3(PEX1):c.3003dup:p.Cys1002fs	coding	Pathogenic
7	92494485	AC	A	C92494488T	PEX1	NM_000466.3(PEX1):c.2926+1del	noncoding	Pathogenic
7	92494490	GT	G	T92494491A	PEX1	NM_000466.3(PEX1):c.2922del:p.Leu974fs	coding	Pathogenic
7	92494496	CT	C	T92494498C	PEX1	NM_000466.3(PEX1):c.2916del:p.Gly973fs	coding	Pathogenic/Likely_pathogenic
7	92494595	CAA	C	A92494597G	PEX1	NM_000466.3(PEX1):c.2816_2817del:p.Phe938_Phe939insTer	coding	Pathogenic
7	92496735	CT	C	T92496737G	PEX1	NM_000466.3(PEX1):c.2760del:p.Ala921fs	coding	Pathogenic/Likely_pathogenic
7	92496765	GT	G	T92496766A	PEX1	NM_000466.3(PEX1):c.2730del:p.Leu910fs	coding	Pathogenic/Likely_pathogenic
7	92499847	C	CA	T92499860A	PEX1	NM_000466.3(PEX1):c.2584-21dup	noncoding	Benign
7	92501618	CG	C	G92501619C	PEX1	NM_000466.3(PEX1):c.2471del:p.Ala824fs	coding	Pathogenic
7	92501621	AG	A	G92501623A	PEX1	NM_000466.3(PEX1):c.2468del:p.Pro823fs	coding	Pathogenic
7	92501909	C	CT	G92501911T	PEX1	NM_000466.3(PEX1):c.2396dup:p.Ser800fs	coding	Pathogenic
7	92501913	CGA	C	A92501919T	PEX1	NM_000466.3(PEX1):c.2387_2388TC[2]:p.Arg798fs	coding	Pathogenic/Likely_pathogenic
7	92501975	GC	T	G92501975T	PEX1	NM_000466.3(PEX1):c.2330_2331delinsA:p.Gly777fs	coding	Pathogenic
7	92503169	T	TA	C92503173A	PEX1	NM_000466.3(PEX1):c.2097dup:p.Ile700fs	coding	Pathogenic
7	92503177	TTTATC	T	T92503178A	PEX1	NM_000466.3(PEX1):c.2085_2089del:p.Met695fs	coding	Pathogenic
7	92504767	CTG	C	T92504770C	PEX1	NM_000466.3(PEX1):c.2032_2033CA[1]:p.His678fs	coding	Pathogenic/Likely_pathogenic
7	92504842	A	ATCCACACTG	C92504852T	PEX1	NM_000466.3(PEX1):c.1952_1960dup:p.Met654_Gln655insThrValTrp	coding	Pathogenic/Likely_pathogenic
7	92504875	GT	G	T92504881G	PEX1	NM_000466.3(PEX1):c.1927del:p.Thr643fs	coding	Pathogenic/Likely_pathogenic
7	92504894	GC	G	C92504896T	PEX1	NM_000466.3(PEX1):c.1908del:p.Arg636fs	coding	Pathogenic/Likely_pathogenic
7	92506305	CT	C	T92506308A	PEX1	NM_000466.3(PEX1):c.1842del:p.Glu615fs	coding	Pathogenic/Likely_pathogenic
7	92507004	GT	G	T92507005G	PEX1	NM_000466.3(PEX1):c.1792del:p.Thr598fs	coding	Pathogenic
7	92507069	T	TC	A92507073C	PEX1	NM_000466.3(PEX1):c.1727dup:p.Arg577fs	coding	Pathogenic
7	92507079	CTG	C	T92507082A	PEX1	NM_000466.3(PEX1):c.1714_1715CA[1]:p.His572fs	coding	Pathogenic/Likely_pathogenic
7	92517383	CT	C	T92517385C	PEX1	NM_000466.3(PEX1):c.1131del:p.Asp378fs	coding	Pathogenic
7	92517388	TC	T	C92517389A	PEX1	NM_000466.3(PEX1):c.1126del:p.Glu376fs	coding	Pathogenic
7	92517406	A	AT	G92517416T	PEX1	NM_000466.3(PEX1):c.1108dup:p.Ile370fs	coding	Pathogenic
7	92517406	AT	A	T92517415G	PEX1	NM_000466.3(PEX1):c.1108del:p.Ile370fs	coding	Pathogenic/Likely_pathogenic
7	92517680	TTGACTGCATATTTTTG	AGAC	T92517680A	PEX1	NM_000466.3(PEX1):c.819_835delinsGTCT:p.Phe273fs	coding	Pathogenic
7	92517731	CTT	C	T92517732G	PEX1	NM_000466.3(PEX1):c.782_783del:p.Gln261fs	coding	Pathogenic/Likely_pathogenic
7	92517793	GA	G	A92517794T	PEX1	NM_000466.3(PEX1):c.721del:p.Ser241fs	coding	Pathogenic
7	92522125	GT	G	T92522130G	PEX1	NM_000466.3(PEX1):c.249del:p.Lys83fs	coding	Pathogenic
7	93102446	C	CA	G93102454A	SAMD9	NM_017654.4(SAMD9):c.3651dup:p.Asp1218Ter	coding	Benign/Likely_benign
7	94395819	TAA	T	A94395820G	COL1A2	NM_000089.3(COL1A2):c.70+719_70+720del	noncoding	Benign/Likely_benign
7	94397731	C	CT	C94397742T	COL1A2	NM_000089.3(COL1A2):c.71-7dup	noncoding	Benign
7	94397731	CT	C	T94397741C	COL1A2	NM_000089.3(COL1A2):c.71-7del	noncoding	Benign
7	94401544	A	AT	A94401557T	COL1A2	NM_000089.4(COL1A2):c.226-11dup	noncoding	Benign
7	94404567	A	AC	T94404570C	COL1A2	NM_000089.3(COL1A2):c.293dup:p.Pro98_Arg99insTer	coding	Pathogenic
7	94404892	TGTAA	T	A94404896T	COL1A2	NM_000089.4(COL1A2):c.432+4_432+7del	coding	Pathogenic/Likely_pathogenic
7	94406413	AT	A	T94406421C	COL1A2	NM_000089.4(COL1A2):c.594+118del	noncoding	Benign
7	94407889	ACAGTAAGT	A	C94407890A	COL1A2	NM_000089.3(COL1A2):c.638_639+6del	coding	Pathogenic
7	94409383	TGGGTCTTCCAGGCCTCTCC	T	G94409386C	COL1A2	NM_000089.4(COL1A2):c.857_875del:p.Gly286fs	coding	Pathogenic
7	94409738	G	GCTGGGGCTCCCGGCCTCC	A94409761G	COL1A2	NM_000089.4(COL1A2):c.957_974dup:p.Ala320_Gly325dup	coding	Pathogenic
7	94410286	GGGTGAGCCCGTAAGTAGCTCTATCATCACACTTTTATAAAGTTAATTGTTTTTCTCATTCCAGTTTCTCCAGCTGGACA	G	G94410287T	COL1A2	NM_000089.3(COL1A2):c.1081_1090-55del	coding	Pathogenic
7	94411033	G	GT	G94411050T	COL1A2	NM_000089.4(COL1A2):c.1252-7dup	noncoding	Benign
7	94418534	TG	T	G94418536C	COL1A2	NM_000089.3(COL1A2):c.2009del:p.Gly670fs	coding	Pathogenic
7	94418601	TA	T	A94418602T	COL1A2	NM_000089.3(COL1A2):c.2025+50del	noncoding	Benign
7	94421809	TA	GC	T94421809G	COL1A2	NM_000089.4(COL1A2):c.2350-90_2350-89delinsGC	noncoding	Benign
7	94423118	TGTAA	T	A94423121G	COL1A2	NM_000089.4(COL1A2):c.2565+3_2565+6del	coding	Pathogenic
7	94425856	CTG	C	G94425858A	COL1A2	NM_000089.4(COL1A2):c.2943+1_2943+2del	coding	Pathogenic
7	94426014	T	TTGGTCCTGC	G94426028C	COL1A2	NM_000089.3(COL1A2):c.2965_2973dup:p.Pro989_Gly991dup	coding	Pathogenic
7	94427629	CCCCCCTGGT	C	T94427638C	COL1A2	NM_000089.3(COL1A2):c.3279_3287del:p.1091_1093PPG[3]	coding	Pathogenic
7	94430290	CAAAT	C	A94430293G	COL1A2	NM_000089.3(COL1A2):c.4001_4004del	coding	Pathogenic
7	94431047	A	AGTTGTCC	T94431048G	COL1A2	NM_000089.3(COL1A2):c.*654_*655insGTTGTCC	noncoding	Benign
7	94588738	AATG	A	T94588743A	SGCE	NM_003919.3(SGCE):c.1254-9_1254-7del	noncoding	Benign
7	94597963	CT	TG	C94597963T	SGCE	NM_003919.3(SGCE):c.1253+811_1253+812delinsCA	coding	Benign
7	94600708	CG	C	G94600709A	SGCE	NM_003919.3(SGCE):c.974del:p.Ser325fs	coding	Pathogenic
7	94600798	T	TA	T94600803A	SGCE	NM_003919.3(SGCE):c.884dup:p.Leu295fs	coding	Pathogenic
7	94600802	A	AT	C94600804T	SGCE	NM_003919.3(SGCE):c.880dup:p.Ile294fs	coding	Pathogenic
7	94600843	CTTTGT	C	G94600847A	SGCE	NM_003919.3(SGCE):c.835_839del:p.Thr279fs	coding	Pathogenic
7	94603315	TA	T	A94603319T	SGCE	NM_003919.3(SGCE):c.799del:p.Tyr267fs	coding	Pathogenic
7	94603319	AT	A	T94603321G	SGCE	NM_003919.3(SGCE):c.795del:p.Gln265fs	coding	Pathogenic
7	94603328	GA	G	A94603331T	SGCE	NM_003919.3(SGCE):c.786del:p.Arg263fs	coding	Pathogenic
7	94603331	A	AT	A94603338T	SGCE	NM_003919.3(SGCE):c.783dup:p.Phe262fs	coding	Pathogenic
7	94603342	CAT	C	A94603343G	SGCE	NM_003919.3(SGCE):c.771_772del:p.Thr257_Cys258insTer	coding	Pathogenic
7	94603348	A	AT	A94603351T	SGCE	NM_003919.3(SGCE):c.766dup:p.Ile256fs	coding	Pathogenic
7	94603403	CT	C	T94603404C	SGCE	NM_003919.3(SGCE):c.711del:p.Glu238fs	coding	Pathogenic
7	94603422	CG	C	G94603425A	SGCE	NM_003919.3(SGCE):c.692del:p.Pro231fs	coding	Pathogenic
7	94603451	CG	C	G94603452C	SGCE	NM_003919.3(SGCE):c.663del:p.Val222fs	coding	Pathogenic
7	94603456	T	TA	T94603462A	SGCE	NM_003919.3(SGCE):c.663-9dup	noncoding	Benign/Likely_benign
7	94618799	CCT	C	C94618800G	SGCE	NM_003919.3(SGCE):c.619_620del:p.Arg207fs	coding	Pathogenic
7	94618800	CT	C	T94618801G	SGCE	NM_003919.3(SGCE):c.619del:p.Arg207fs	coding	Pathogenic
7	94618809	GC	G	C94618811G	SGCE	NM_003919.3(SGCE):c.610del:p.Ala204fs	coding	Pathogenic
7	94618860	AC	A	C94618861T	SGCE	NM_003919.3(SGCE):c.559del:p.Ala186_Val187insTer	coding	Pathogenic
7	94618867	CAAGA	C	A94618871T	SGCE	NM_003919.3(SGCE):c.549_552del:p.Phe183fs	coding	Pathogenic/Likely_pathogenic
7	94618873	AG	A	G94618874T	SGCE	NM_003919.3(SGCE):c.546del:p.Gly185fs	coding	Pathogenic
7	94618949	CG	C	G94618952A	SGCE	NM_003919.3(SGCE):c.470del:p.Pro157fs	coding	Pathogenic
7	94623340	TATTA	T	A94623345T	SGCE	NM_003919.3(SGCE):c.440_443TAAT[1]:p.Ile148_Asn149insTer	coding	Pathogenic
7	94623348	A	AT	C94623350T	SGCE	NM_003919.3(SGCE):c.439dup:p.Ile147fs	coding	Pathogenic
7	94628243	AC	A	C94628246A	SGCE	NM_003919.3(SGCE):c.348del:p.Ser117fs	coding	Pathogenic
7	94628291	GC	G	C94628293A	SGCE	NM_003919.3(SGCE):c.300del:p.Trp100fs	coding	Pathogenic
7	94629821	CC	A	C94629821A	SGCE	NM_003919.3(SGCE):c.129_130delinsT:p.Lys43fs	coding	Pathogenic
7	96121696	G	GT	A96121698T	SLC25A13	NM_014251.3(SLC25A13):c.1799dup:p.Tyr600Ter	coding	Pathogenic
7	96121876	AC	A	C96121877G	SLC25A13	NM_014251.3(SLC25A13):c.1712del:p.Arg571fs	coding	Pathogenic
7	96121924	G	GCCCCGGGCAGCCACCTGTAATCT	A96121927C	SLC25A13	NM_014251.3(SLC25A13):c.1664_1665insAGATTACAGGTGGCTGCCCGGGG:p.Gln556fs	coding	Pathogenic
7	96121928	G	GCCCGGGCAGCCACCTGTAATCTC	G96121952C	SLC25A13	NM_014251.3(SLC25A13):c.1638_1660dup:p.Ala554fs	coding	Pathogenic
7	96121957	GA	G	A96121958T	SLC25A13	NM_014251.3(SLC25A13):c.1631del:p.Ile544fs	coding	Pathogenic
7	96146632	GC	G	C96146634A	SLC25A13	NM_014251.3(SLC25A13):c.1375del:p.Ala459fs	coding	Pathogenic
7	96184963	ACT	A	C96184966G	SLC25A13	NM_014251.3(SLC25A13):c.978_979AG[1]:p.Glu327fs	coding	Pathogenic
7	96189371	TCATA	T	A96189373G	SLC25A13	NM_014251.3(SLC25A13):c.852_855del:p.Met285fs	coding	Pathogenic
7	96189552	CA	C	A96189570G	SLC25A13	NM_014251.3(SLC25A13):c.848+28del	noncoding	Benign
7	96193040	T	TACTAG	A96193048T	SLC25A13	NM_014251.3(SLC25A13):c.607_611dup:p.Ala205_Ala206insTer	coding	Pathogenic
7	96193080	CG	C	G96193082A	SLC25A13	NM_014251.3(SLC25A13):c.571del:p.Arg191fs	coding	Pathogenic
7	96193156	CT	C	T96193158G	SLC25A13	NM_014251.3(SLC25A13):c.495del:p.Ala166fs	coding	Pathogenic
7	97006108	AGCCGCCGCC	A	C97006129A	DLX6	NM_005222.4(DLX6):c.134_136CGC[6]:p.Pro51_Pro53del	coding	Benign
7	97859284	AT	A	T97859287C	ASNS	NM_001673.5(ASNS):c.601del:p.Met201fs	coding	Pathogenic
7	97864267	TC	T	C97864268T	ASNS	NM_001673.5(ASNS):c.478del:p.Glu160fs	coding	Pathogenic
7	98315621	A	AT	A98315622T	BAIAP2L1	NM_018842.5(BAIAP2L1):c.487-10_487-9insA	noncoding	Benign
7	98315625	A	ATAAT	A98315626T	BAIAP2L1	NM_018842.5(BAIAP2L1):c.487-14_487-13insATTA	noncoding	Benign
7	98937283	T	TGTGTGTGCGTGC	A98937300G	TRRAP	NM_001375524.1(TRRAP):c.4233+11_4233+22dup	noncoding	Benign
7	99388136	G	GCT	G99388139C	ARPC1B	NM_005720.4(ARPC1B):c.268_269dup:p.Val91fs	coding	Pathogenic
7	99390002	T	TCC	T99390003C	ARPC1B	NM_005720.4(ARPC1B):c.490_491insCC:p.Phe164fs	coding	Pathogenic
7	99390003	TCAAG	CCTGCCC	T99390003C	ARPC1B	NM_005720.4(ARPC1B):c.491_495delinsCCTGCCC:p.Phe164fs	coding	Pathogenic
7	99391014	GTC	G	C99391016G	ARPC1B	NM_005720.4(ARPC1B):c.624_625del:p.Cys209fs	coding	Pathogenic
7	99391208	ACTGCT	A	C99391209G	ARPC1B	NM_005720.4(ARPC1B):c.739_743del:p.Leu247fs	coding	Pathogenic
7	99391231	CAG	C	G99391233C	ARPC1B	NM_005720.4(ARPC1B):c.763_764del:p.Asp255fs	coding	Pathogenic
7	99394455	T	TG	A99394458G	ARPC1B	NM_005720.4(ARPC1B):c.1087dup:p.Glu363fs	coding	Pathogenic
7	100101744	CA	C	A100101746G	AP4M1	NM_004722.4(AP4M1):c.32del:p.Lys11fs	coding	Pathogenic/Likely_pathogenic
7	100102741	G	GA	C100102746A	AP4M1	NM_004722.4(AP4M1):c.218dup:p.Asn73fs	coding	Pathogenic
7	100105063	C	CG	A100105066G	AP4M1	NM_004722.4(AP4M1):c.694dup:p.Glu232fs	coding	Pathogenic
7	100105247	GC	G	C100105249A	AP4M1	NM_004722.4(AP4M1):c.737del:p.Pro246fs	coding	Pathogenic
7	100105449	CTG	C	T100105452A	AP4M1	NM_004722.4(AP4M1):c.840_841TG[1]:p.Val281fs	coding	Pathogenic
7	100106004	G	GT	A100106006T	AP4M1	NM_004722.4(AP4M1):c.974+2dup	noncoding	Pathogenic
7	100188861	TC	T	C100188863A	STAG3	NM_001282716.1(STAG3):c.562del:p.Gln188fs	coding	Pathogenic
7	100200852	C	CCT	A100200857C	STAG3	NM_001282716.1(STAG3):c.1945_1946CT[3]:p.Tyr650fs	coding	Pathogenic
7	100626766	CATTAT	C	A100626767G	TFR2	NM_003227.4(TFR2):c.2128_2132del:p.Ile710fs	coding	Pathogenic
7	100626860	T	TC	G100626867C	TFR2	NM_003227.4(TFR2):c.2038dup:p.Asp680fs	coding	Pathogenic
7	100627386	GCTGGGCCACGGC	G	C100627399G	TFR2	NM_003227.4(TFR2):c.1849_1860GCCGTGGCCCAG[1]:p.617_620AVAQ[1]	coding	Pathogenic
7	100627447	A	AT	A100627449T	TFR2	NM_003227.4(TFR2):c.1811dup:p.Tyr604Ter	coding	Pathogenic
7	100627597	CG	C	G100627599C	TFR2	NM_003227.4(TFR2):c.1746del:p.Val583fs	coding	Pathogenic
7	100627760	TG	T	G100627763A	TFR2	NM_003227.4(TFR2):c.1665del:p.Ser556fs	coding	Pathogenic
7	100627796	GC	G	C100627799A	TFR2	NM_003227.4(TFR2):c.1629del:p.Gln544fs	coding	Pathogenic
7	100627971	TC	T	C100627975T	TFR2	NG_007989.1:g.18579del	coding	Pathogenic
7	100628298	GC	G	C100628300G	TFR2	NM_003227.4(TFR2):c.1398del:p.Arg468fs	coding	Pathogenic
7	100630921	ATGT	A	T100630927A	TFR2	NM_003227.4(TFR2):c.1232_1234ACA[1]:p.Asn412del	coding	Pathogenic
7	100630995	AG	A	G100630999A	TFR2	NM_003227.4(TFR2):c.1163del:p.Pro388fs	coding	Pathogenic
7	100631042	CTT	C	T100631044G	TFR2	NM_003227.4(TFR2):c.1115_1116del:p.Lys372fs	coding	Pathogenic
7	100640756	G	GTC	G100640760C	TFR2	NM_003227.4(TFR2):c.401_402dup:p.Leu135fs	coding	Pathogenic
7	100641008	AG	A	G100641010T	TFR2	NM_003227.4(TFR2):c.253del:p.Leu85fs	coding	Pathogenic
7	100641173	C	CG	C100641179G	TFR2	NM_003227.4(TFR2):c.88dup:p.Arg30fs	coding	Pathogenic
7	100643247	CA	C	A100643248G	ACTL6B	NM_016188.5(ACTL6B):c.1279del:p.Ter427AspextTer?	coding	Pathogenic/Likely_pathogenic
7	100650094	C	CATCA	G100650099A	ACTL6B	NM_016188.5(ACTL6B):c.407_410dup:p.Met137fs	coding	Pathogenic
7	100721562	TC	T	C100721564T	EPO	NM_000799.4(EPO):c.20del:p.Pro7fs	coding	Pathogenic
7	100721575	TG	T	G100721577C	EPO	NM_000799.4(EPO):c.33del:p.Trp11fs	coding	Pathogenic
7	100773854	G	GT	C100773856T	ZAN	NM_003386.3(ZAN):c.5769dup:p.Arg1924fs	coding	Benign
7	100787939	GGCTTCAGCTACCGCTTGCAAGGCCGCATGACCTAT	G	C100787941T	ZAN	NM_003386.3(ZAN):c.7032_7066del:p.Phe2345fs	coding	Benign
7	100806417	T	TA	C100806419A	EPHB4	NM_004444.5(EPHB4):c.2484+2dup	noncoding	Pathogenic
7	100822445	GCA	G	C100822448G	EPHB4	NM_004444.5(EPHB4):c.630_631TG[1]:p.Val211fs	coding	Pathogenic
7	100822508	G	GC	A100822510C	EPHB4	NM_004444.5(EPHB4):c.570dup:p.His191fs	coding	Pathogenic
7	100826963	CCG	C	G100826965A	SLC12A9;EPHB4	NM_004444.5(EPHB4):c.52+14_52+15del	noncoding	Benign
7	100826964	CG	C	G100826965C	EPHB4;SLC12A9	NM_004444.5(EPHB4):c.52+14del	noncoding	Benign
7	100826997	AC	A	C100826998G	EPHB4	NM_004444.5(EPHB4):c.33del:p.Leu12fs	coding	Pathogenic
7	101130504	G	GC	G101130506C	SERPINE1	NM_000602.4(SERPINE1):c.356dup:p.Ile120fs	coding	Pathogenic
7	101132065	C	CTA	G101132070T	SERPINE1	NM_000602.4(SERPINE1):c.697_698TA[3]:p.Thr234fs	coding	Pathogenic
7	101138430	T	TCGCGCCCCC	T101138448C	SERPINE1	NM_000602.4(SERPINE1):c.*997_*1005dup	noncoding	Benign
7	101206426	CA	C	A101206427G	PLOD3	NM_001084.5(PLOD3):c.2071del:p.Cys691fs	coding	Pathogenic
7	102227397	G	GC	T102227401C	CUX1	NM_181552.4(CUX1):c.3164dup:p.Ala1056fs	coding	Pathogenic/Likely_pathogenic
7	103420728	A	ATC	A103420732C	SLC26A5	NM_206883.2(SLC26A5):c.292+8_292+9dup	noncoding	Benign/Likely_benign
7	103492033	CAAACAT	C	T103492039A	RELN	NM_005045.4(RELN):c.9370-13_9370-8del	noncoding	Benign
7	103539147	CA	TG	C103539147T	RELN	NM_005045.4(RELN):c.7110_7111inv:p.Ala2371Thr	coding	Benign
7	103551165	TAA	T	A103551167G	RELN	NM_005045.4(RELN):c.6202_6203del:p.Leu2068fs	coding	Pathogenic
7	103561959	CAAAA	C	A103561975C	RELN	NM_005045.4(RELN):c.5211-10_5211-7del	noncoding	Benign
7	103561959	CAAA	C	A103561976C	RELN	NM_005045.4(RELN):c.5211-9_5211-7del	noncoding	Benign
7	103561959	C	CAAAA	C103561979A	RELN	NM_005045.4(RELN):c.5211-25_5211-22dup	noncoding	Benign
7	103565279	T	TGGTGGAGAGTGGAA	A103565297G	RELN	NM_005045.4(RELN):c.5195_5208dup:p.Ile1737fs	coding	Pathogenic
7	103565554	GA	G	A103565565T	RELN	NM_005045.4(RELN):c.4937-4del	noncoding	Benign
7	103565554	G	GAA	T103565566A	RELN	NM_005045.4(RELN):c.4937-14_4937-13dup	noncoding	Benign
7	103565554	G	GA	T103565566A	RELN	NM_005045.4(RELN):c.4937-14dup	noncoding	Benign
7	103566964	G	GAAGGAAA	A103566967G	RELN	NM_005045.4(RELN):c.4589-206_4589-205insTTTTTCC	noncoding	Benign
7	103596509	G	GC	A103596515C	RELN	NM_005045.4(RELN):c.3485dup:p.Ile1163fs	coding	Pathogenic
7	103603421	AT	A	T103603422C	RELN	NM_005045.4(RELN):c.3215del:p.Asp1072fs	coding	Pathogenic
7	103630182	GA	G	A103630193G	RELN	NM_005045.4(RELN):c.2466-7del	noncoding	Benign
7	103630182	G	GA	G103630194A	RELN	NM_005045.4(RELN):c.2466-17dup	noncoding	Benign
7	103636451	G	GA	T103636456A	RELN	NM_005045.4(RELN):c.2086dup:p.Ser696fs	coding	Pathogenic
7	103661529	TA	T	A103661538G	RELN	NM_005045.4(RELN):c.1290-3del	noncoding	Benign
7	103661529	T	TA	G103661539A	RELN	NM_005045.4(RELN):c.1290-11dup	noncoding	Benign/Likely_benign
7	103917082	G	GA	G103917086A	RELN	NM_005045.4(RELN):c.329dup:p.Gly111fs	coding	Pathogenic
7	103989356	TGCCGCCGCCGCC	T	C103989371G	RELN	NM_005045.4(RELN):c.-24_-22GGC[4]	coding	Benign/Likely_benign
7	103989356	T	TGCCGCCGCC	G103989383C	RELN	NM_005045.3(RELN):c.-9_-1dupGGCGGCGGC	coding	Benign/Likely_benign
7	105066759	A	AT	A105066761T	KMT2E	NM_182931.3(KMT2E):c.450dup:p.Arg151Ter	coding	Pathogenic
7	105077317	GA	G	A105077319T	KMT2E	NM_182931.3(KMT2E):c.1016del:p.Asn339fs	coding	Pathogenic
7	105077401	A	ACAGTT	T105077407C	KMT2E	NM_182931.3(KMT2E):c.1099_1103dup:p.Glu369fs	coding	Pathogenic
7	105090234	AA	CT	A105090234C	KMT2E	NM_182931.3(KMT2E):c.1584_1585delinsCT:p.Arg528_Lys529delinsSerTer	coding	Pathogenic
7	105107415	TTTAAC	T	T105107417G	KMT2E	NM_182931.3(KMT2E):c.2960_2964del:p.Asn986_Leu987insTer	coding	Pathogenic
7	105107650	TCTTCCTGGGTAAAGAGCCCTGACAGAACAGGAGTTAA	T	C105107655T	KMT2E	NM_182931.3(KMT2E):c.3198_3234del:p.Trp1067fs	coding	Pathogenic
7	105112808	T	TG	T105112811G	KMT2E	NM_182931.3(KMT2E):c.5054dup:p.Pro1686fs	coding	Pathogenic
7	105508180	CTCAG	C	C105508182G	PUS7	NM_019042.5(PUS7):c.329_332del:p.Thr110fs	coding	Pathogenic
7	105508422	TTG	T	G105508424C	PUS7	NM_019042.5(PUS7):c.89_90del:p.Thr30fs	coding	Pathogenic
7	105532811	GTTC	G	T105532819A	RINT1	NM_021930.6(RINT1):c.43-12TTC[2]	noncoding	Benign
7	107211146	G	GAAT	G107211153A	COG5	NM_006348.5(COG5):c.2242ATT[3]:p.Ile749dup	coding	Pathogenic
7	107283630	C	CG	A107283636G	COG5	NM_006348.5(COG5):c.1415dup:p.Gly474fs	coding	Pathogenic
7	107298295	CG	C	G107298296T	COG5	NM_006348.5(COG5):c.1159del:p.Arg387fs	coding	Pathogenic
7	107412482	AAC	A	C107412484G	COG5	NM_006348.5(COG5):c.669+18_669+19del	noncoding	Benign
7	107527308	TTACT	AG	T107527308A	COG5	NM_006348.5(COG5):c.463_467delinsCT:p.Ser155_Lys156delinsLeu	coding	Pathogenic
7	107554339	CA	C	A107554341C	COG5	NM_006348.5(COG5):c.237del:p.Val80fs	coding	Pathogenic
7	107558113	AC	A	C107558116T	COG5	NM_006348.5(COG5):c.96del:p.Cys33Valfs	coding	Pathogenic
7	107563979	ACC	A	C107563981A	COG5	NM_181581.3(DUS4L):c.-339_-338del	coding	Pathogenic/Likely_pathogenic
7	107661679	TC	T	C107661683G	SLC26A4	NM_000441.2(SLC26A4):c.42del:p.Glu15fs	coding	Pathogenic
7	107661771	A	TTG	A107661771T	SLC26A4	NM_000441.2(SLC26A4):c.130delinsTTG:p.Lys44fs	coding	Pathogenic
7	107661804	AG	A	G107661806T	SLC26A4	NM_000441.2(SLC26A4):c.164+1del	coding	Pathogenic/Likely_pathogenic
7	107663409	GT	G	T107663410A	SLC26A4	NM_000441.2(SLC26A4):c.279del:p.Ser93fs	coding	Pathogenic/Likely_pathogenic
7	107663422	GGCCAC	G	C107663425T	SLC26A4	NM_000441.2(SLC26A4):c.294_298del:p.Thr99fs	coding	Pathogenic
7	107672181	TC	T	C107672182T	SLC26A4	NM_000441.2(SLC26A4):c.349del:p.Leu117fs	coding	Pathogenic
7	107672192	C	CT	C107672199T	SLC26A4	NM_000441.2(SLC26A4):c.365dup:p.Ile124fs	coding	Pathogenic
7	107672215	TTT	AA	T107672215A	SLC26A4	NM_000441.2(SLC26A4):c.382_384delinsAA:p.Phe128fs	coding	Pathogenic
7	107675076	CA	C	A107675081C	SLC26A4	NM_000441.2(SLC26A4):c.737del:p.Asn246fs	coding	Pathogenic/Likely_pathogenic
7	107683351	T	TG	T107683353G	SLC26A4	NM_000441.2(SLC26A4):c.916dup:p.Val306fs	coding	Pathogenic/Likely_pathogenic
7	107683352	GT	G	T107683353G	SLC26A4	NM_000441.2(SLC26A4):c.917del:p.Val306fs	coding	Pathogenic
7	107683531	C	CA	G107683534A	SLC26A4	NM_000441.2(SLC26A4):c.997dup:p.Arg333fs	coding	Pathogenic
7	107689196	AC	A	C107689198A	SLC26A4	NM_000441.2(SLC26A4):c.1147del:p.Gln383fs	coding	Pathogenic
7	107689199	AG	A	G107689201T	SLC26A4	NM_000441.2(SLC26A4):c.1149+1del	coding	Pathogenic
7	107690135	C	CT	G107690139T	SLC26A4	NM_000441.2(SLC26A4):c.1164dup:p.Gly389fs	coding	Pathogenic
7	107690151	ATCT	A	T107690155C	SLC26A4	NM_000441.2(SLC26A4):c.1178_1180TCT[1]:p.Phe394del	coding	Pathogenic/Likely_pathogenic
7	107690170	CT	C	T107690172G	SLC26A4	NM_000441.2(SLC26A4):c.1198del:p.Cys400fs	coding	Pathogenic/Likely_pathogenic
7	107690193	CT	C	T107690196C	SLC26A4	NM_000441.2(SLC26A4):c.1222del:p.Ser408fs	coding	Pathogenic
7	107694418	TCTG	T	T107694423G	SLC26A4	NM_000441.2(SLC26A4):c.1281_1283TGC[1]:p.Ala429del	coding	Pathogenic/Likely_pathogenic
7	107694477	GA	G	A107694479G	SLC26A4	NM_000441.2(SLC26A4):c.1340del:p.Lys447fs	coding	Pathogenic
7	107694479	AG	A	G107694481T	SLC26A4	NM_000441.2(SLC26A4):c.1341+1del	coding	Pathogenic
7	107694617	G	GCAGT	G107694623A	SLC26A4	NM_000441.1(SLC26A4):c.1342-2_1343dup	noncoding	Pathogenic
7	107694621	T	TCGGTCTTGGCAGC	T107694635C	SLC26A4	NM_000441.2(SLC26A4):c.1343_1355dup:p.Val453fs	coding	Pathogenic
7	107695952	G	GT	A107695954T	SLC26A4	NM_000441.2(SLC26A4):c.1458dup:p.Ile487fs	coding	Pathogenic
7	107696013	GT	G	T107696015G	SLC26A4	NM_000441.2(SLC26A4):c.1520del:p.Leu506_Leu507insTer	coding	Pathogenic/Likely_pathogenic
7	107698042	T	TC	T107698045C	SLC26A4	NM_000441.2(SLC26A4):c.1547dup:p.Ser517fs	coding	Pathogenic/Likely_pathogenic
7	107700115	A	AT	C107700120T	SLC26A4	NM_000441.2(SLC26A4):c.1651dup:p.Ser551fs	coding	Pathogenic
7	107700154	TA	T	A107700160T	SLC26A4	NM_000441.2(SLC26A4):c.1692del:p.Lys564fs	coding	Pathogenic
7	107700154	T	TA	T107700161A	SLC26A4	NM_000441.2(SLC26A4):c.1692dup:p.Cys565fs	coding	Pathogenic
7	107701138	TG	T	G107701139A	SLC26A4	NM_000441.2(SLC26A4):c.1746del:p.Ala584fs	coding	Pathogenic
7	107710069	A	AGCTGG	A107710075G	SLC26A4	NM_000441.2(SLC26A4):c.2106_2110dup:p.Glu704fs	coding	Pathogenic
7	107710088	CT	C	T107710091G	SLC26A4	NM_000441.2(SLC26A4):c.2127del:p.Phe709fs	coding	Pathogenic/Likely_pathogenic
7	107710137	G	GCTAT	A107710142C	SLC26A4	NM_000441.2(SLC26A4):c.2174_2177dup:p.Leu727fs	coding	Pathogenic
7	107710146	T	TG	A107710147G	SLC26A4	NM_000441.2(SLC26A4):c.2182_2183insG:p.Tyr728Ter	coding	Pathogenic
7	107710187	CA	C	A107710188T	SLC26A4	NM_000441.2(SLC26A4):c.2224del:p.Ile742fs	coding	Pathogenic
7	107772089	C	CTGA	A107772094G	SLC26A3	NM_000111.2(SLC26A3):c.2024_2026dup:p.Ile675dup	coding	Pathogenic
7	107786844	AACC	A	C107786847A	SLC26A3	NM_000111.2(SLC26A3):c.951_953del:p.Val318del	coding	Pathogenic
7	107793742	C	CTT	G107793745T	SLC26A3	NM_000111.3(SLC26A3):c.269_270dup	coding	Pathogenic
7	107893263	T	TA	C107893265A	DLD	NM_000108.5(DLD):c.104dup:p.Tyr35Ter	coding	Pathogenic
7	107893264	AC	A	C107893265G	DLD	NM_000108.5(DLD):c.105del:p.Thr34_Tyr35insTer	coding	Pathogenic
7	107903518	GAA	T	G107903518T	DLD	NM_000108.5(DLD):c.308_310delinsT:p.Gly103fs	coding	Pathogenic
7	107906310	T	TA	G107906318A	DLD	NM_000108.5(DLD):c.633dup:p.Val212fs	coding	Pathogenic/Likely_pathogenic
7	107915623	CAG	C	A107915624G	DLD	NM_000108.5(DLD):c.803_804del:p.Gln268fs	coding	Pathogenic
7	107915640	A	AT	G107915643T	DLD	NM_000108.5(DLD):c.821dup:p.Leu274fs	coding	Pathogenic
7	107918024	CGACA	C	C107918031G	DLD	NM_000108.5(DLD):c.1340_1343CAGA[1]:p.Asp448fs	coding	Pathogenic
7	107919276	TA	T	A107919277T	DLD	NM_000108.5(DLD):c.*18del	noncoding	Benign
7	107924091	TGG	T	G107924094A	LAMB1	NM_002291.3(LAMB1):c.5225-6_5225-5del	noncoding	Benign
7	107924097	G	GATAT	A107924111T	LAMB1	NM_002291.3(LAMB1):c.5225-22AT[8]	noncoding	Benign
7	107952145	TGACCAGTGGCTTT	ATTAGGAAGACACAAGCACATTAGGAAGACACAAGCACTGG	T107952145A	LAMB1	NM_002291.3(LAMB1):c.3145_3158delinsCCAGTGCTTGTGTCTTCCTAATGTGCTTGTGTCTTCCTAAT:p.Lys1049_Gln1053delinsProValLeuValSerSerTer	coding	Pathogenic
7	107953677	AC	A	C107953678T	LAMB1	NM_002291.3(LAMB1):c.2931del:p.Gln977fs	coding	Pathogenic
7	107998337	T	TCC	A107998342C	LAMB1	NM_002291.3(LAMB1):c.349+16_349+17dup	noncoding	Benign
7	108024059	AT	A	T108024067C	LAMB4	NM_007356.3(LAMB4):c.5265del:p.Lys1755fs	coding	Benign
7	108514854	GAATT	G	T108514858A	PNPLA8	NM_001256007.3(PNPLA8):c.634_637del:p.Asn212fs	coding	Pathogenic
7	112318220	T	TA	C112318222A	ZNF277	NM_021994.3(ZNF277):c.505dup:p.Thr169fs	coding	Benign
7	114629915	GCAA	G	A114629930G	FOXP2	NM_014491.4(FOXP2):c.510_512ACA[4]:p.Gln191del	coding	Benign/Likely_benign
7	114631524	C	CCAG	A114631551G	FOXP2	NM_014491.3(FOXP2):c.618_620dupGCA:p.Gln209_Leu210insGln	noncoding	Benign/Likely_benign
7	114631606	C	CA	C114631609A	FOXP2	NM_014491.4(FOXP2):c.678dup:p.Leu227fs	coding	Pathogenic
7	114644724	TG	T	G114644726C	FOXP2	NM_014491.4(FOXP2):c.1031del:p.Gly344fs	coding	Pathogenic
7	114652274	AAC	A	C114652276G	FOXP2	NM_014491.4(FOXP2):c.1168_1169del:p.Gln390fs	coding	Pathogenic
7	114658168	AT	A	T114658170A	FOXP2	NM_014491.4(FOXP2):c.1371del:p.Thr458fs	coding	Pathogenic/Likely_pathogenic
7	114659381	TA	T	A114659386T	FOXP2	NM_014491.4(FOXP2):c.1499del:p.Asn500fs	coding	Pathogenic
7	114662139	TG	T	G114662140T	FOXP2	NM_014491.4(FOXP2):c.1723del:p.Val575fs	coding	Pathogenic
7	114690131	T	TC	T114690132C	FOXP2	NM_014491.4(FOXP2):c.*205_*206insC	noncoding	Benign
7	114690148	G	GA	G114690156A	FOXP2	NM_014491.4(FOXP2):c.*229dup	noncoding	Benign
7	114690175	GA	G	A114690186T	FOXP2	NM_014491.4(FOXP2):c.*260del	noncoding	Benign
7	114691943	GA	G	A114691956G	FOXP2	NM_014491.4(FOXP2):c.*2030del	noncoding	Benign
7	116525104	T	TG	C116525112G	CAV1	NM_001753.5(CAV1):c.30+19dup	coding	Benign
7	116559149	CA	C	A116559150T	CAV1	NM_001753.5(CAV1):c.400del:p.Ile134fs	coding	Pathogenic
7	116559151	TT	A	T116559151A	CAV1	NM_001753.5(CAV1):c.401_402delinsA:p.Ile134fs	coding	Pathogenic
7	116559220	AC	A	C116559223A	CAV1	NM_001753.5(CAV1):c.473del:p.Pro158fs	coding	Pathogenic
7	116559223	CA	C	A116559224C	CAV1	NM_001753.5(CAV1):c.474del:p.Leu159fs	coding	Pathogenic
7	116559227	CTT	C	T116559229G	CAV1	NM_001753.5(CAV1):c.479_480del:p.Leu159_Phe160insTer	coding	Pathogenic
7	116740813	TA	AT	T116740813A	MET	NM_000245.4(MET):c.1528-39_1528-38delinsAT	noncoding	Benign
7	116741067	G	GT	G116741084T	MET	NM_001127500.3(MET):c.1701+58dup	noncoding	Benign
7	116769621	CT	C	T116769636C	MET	NM_001127500.3(MET):c.2638-9del	noncoding	Benign
7	117480081	GCGCCCGAGAGACCATGCAGAGGT	G	C117480086T	CFTR	NM_000492.3(CFTR):c.-9_14del:p.Met1fs	noncoding	Pathogenic
7	117480097	GC	G	C117480098A	CFTR	NM_000492.4(CFTR):c.4del:p.Gln2fs	coding	Pathogenic
7	117480117	A	AG	C117480120G	CFTR	NM_000492.4(CFTR):c.25dup:p.Ala9fs	coding	Pathogenic
7	117480137	C	CT	C117480145T	CFTR	NM_000492.3(CFTR):c.50dup:p.Ser18fs	coding	Pathogenic
7	117480137	C	CTT	C117480145T	CFTR	NM_000492.3(CFTR):c.49_50dup:p.Trp19fs	coding	Pathogenic
7	117480137	CT	C	T117480144C	CFTR	NM_000492.3(CFTR):c.50del:p.Phe17fs	coding	Pathogenic
7	117480144	TC	T	C117480145A	CFTR	NM_000492.4(CFTR):c.51del:p.Phe17fs	coding	Pathogenic
7	117503086	AAAATGTTTGCATTTGGCATAGCCCTTTCTCTTTTTGTTCTGAATGGCTTTGCTAGAATATCTTTTCTATAATGAATTTATCCTGCTTCTCAGATATTGCTAAAGCACTCCCTTTTGAATTTTGGTGCTTTAACATGCATTTTGATACATTACCAAATAAGGTCTGAATGACACAAATTTTAGAACTCTCCAGAGAAAAGAAAGATGCTGAGGGAAAAAGCATAGGTTTGGGACTCACTAAATCCCAGTTCAATTCCTTTCTTTAATAAATATATTCAATTTTACCTGAGAAAGCTCTCGTGCTCTCGAATTTTATTTAGAAATTTCTCTTTGTACATGATTGATTTCACAATCCTTCTTCTGCCTCCTCTTCTACTTTCTTCTTTCTAGATTTTCCTATCTTTATGAAGATTATTCTGCCTTATCCTCAACAGTTAGAAACAATATTTTTGAAAATCACTACGGTATCCTGCATAGTGATTTCCCATGCCAACTTTACTAATTTCCATTATAAATTATTATTTATTGATGCCTAGAGGGCAGATGAGTGTAGCTGCTATGGAGTGAGGAGACAAAACATAAGAAAGTTATGATCCTACCCTCAGGTAATGATTCAGACATGATAATTAAGTCAACAAATTGATAGAAACTAATCACTAACTCTCTGGCTATAGTCATTCTTTCAATGAATAGCTCATTACTGAGTATGCATGCTACAGTAACAAAATTATATAAGGCTGTTGATTAAATGTTGATTAAGTGCATGTCTTATTCAGAGTTTTTTTATATTTGAAATGGAAGAGGCTGGACTTCAGTAATTTGCTATAAACTGCTAGTATATGATTATTTGGGGGCAGTTATTTTTTAAAGAATAATTTAAATATGGAATGTTTAGCAGTTTGTTTTTTCCCTGGGAAAAACCATACTATTATTCCCTCCCAATCCCTTTGACAAAGTGACAGTCACATTAGTTCAGAGATATTGATGTTTTATACAGGTGTAGCCTGTAAGAGATGAAGCCTGGTATTTATAGAAATTGACTTATTTTATTCTCATATTTACATGTGCATAATTTTCCATATGCCAGAAAAGTTGAATAGTATCAGATTCCAAATCTGTATGGAGACCAAATCAAGTGAATATCTGTTCCTCCTCTCTTTATTTTAGCTGGACCAGACCAATTTTGAGGAAAGGATACAGACAGCGCCTGGAATTGTCAGACATATACCAAATCCCTTCTGTTGATTCTGCTGACAATCTATCTGAAAAATTGGAAAGGTATGTTCATGTACATTGTTTAGTTGAAGAGAGAAATTCATATTATTAATTATTTAGAGAAGAGAAAGCAAACATATTATAAGTTTAATTCTTATATTTAAAAATAGGAGCCAAGTATGGTGGCTAATGCCTGTAATCCCAACTATTTGGGAGGCCAAGATGAGAGGATTGCTTGAGACCAGGAGTTTGATACCAGCCTGGGCAACATAGCAAGATGTTATCTCTACACAAAATAAAAAAGTTAGCTGGGAATGGTAGTGCATGCTTGTATTCCCAGCTACTCAGGAGGCTGAAGCAGGAGGGTTACTTGAGCCCAGGAGTTTGAGGTTGCAGTGAGCTATGATTGTGCCACTGCACTCCAGCTTGGGTGACACAGCAAAACCCTCTCTCTCTAAAAAAAAAAAAAAAAAGGAACATCTCATTTTCACACTGAAATGTTGACTGAAATCATTAAACAATAAAATCATAAAAGAAAAATAATCAGTTTCCTAAGAAATGATTTTTTTTCCTGAAAAATACACATTTGGTTTCAGAGAATTTGTCTTATTAGAGACCATGAGATGGATTTTGTGAAAACTAAAGTAACACCATTATGAAGTAAATCGTGTATATTTGCTTTCAAAACCTTTATATTTGAATACAAATGTACTCCCTGGGAAGTCTTAAGGTAATGGCTACTGGTTATCAAACAAATGTAAAAATTGTATATTTTTGAGTACCTGTTACATGCCAGGTAGAATATCTCCTCTCAGCCACTCTGAGTGGAAAGCATCATTATCTCTATTTTACAGAAAAGCAAACTGAGGCTCAGAGAGATAATATACTTTGCCAGTTAATGAATGATGGAGCCATGATTCCAGCTGAGGTCTGTATTGCCTTGCTCTCTAGGAATGGTAGTCCCCCCCATAAAGAATCTCTCAGTTTCCTTTCCAATCAAAAGGTTAGGATCCTTTTGATTGCCAGTGACAGAAACCCAATTTACTAGCTTAAGTAAATAAAAGGAACGAATTTATTGGCTCATGAAGCCTGAACTATGTGAAGACCTAGGTGGAGAACTGGCCTTAGGAACTCAATGGGACCAAGGACTCAAATGCCACCTGGTGGCATTTGCCTTATGCTGGTTTTATTTTCTCAGACCGGACCAGCTTTCTACATAAAGTGGGTCCCTGGTTAGAACTCTTTGCTCCTATCTTTAAGGACCACGAAAGAAGGAGCCCTTTGTCCTTGGCTAAATGTGAAAAATCCCAGAGACTCTTGAGTCATAGTGCTTACCCCTTGGGCCACTCATAGTCTAGAATGAACTAGGCTGAGTCTCGTGCCAACAGCACAGGCCTGATGCCAGATAAAAGGGTGAGTGAAGGGGGATAAAAAATAAGACATAGCTACTAAATTATTGCACCAAAGTAAAAACATTGAGTTGACTTGCAATTTGTTTCTTTTAATTAAATTCATTTCCTTTTTTTGGCATTTTGAAGGCAAAGTAAGATATTAAACTTTATTTTTATTGATTTTATTCAAAGAATTAAGCTAGTGGGAGTAGCAGATTCACACTTCTAAGATCAAGGGCCAGCTTCTATTATTGAACACTTGGTGTGTGC	A	T117503092C	CFTR	NM_000492.3(CFTR):c.54-1161_164+1603del	noncoding	Pathogenic
7	117504250	TAGCTGGACCAGACCAATTTTGAGGAAAGGATACAGACAGCGCCTGGAATTGTCAGACATATACCAAATCCCTTCTGTTGATTCTGCTGACAATCTATCTGAAAAATTGGAA	T	C117504253G	CFTR	NM_000492.3(CFTR):c.54_164del111	noncoding	Pathogenic
7	117504341	AATCT	A	A117504346G	CFTR	NM_000492.4(CFTR):c.143_146ATCT[1]:p.Ser50fs	coding	Pathogenic
7	117504366	A	AT	G117504368T	CFTR	NM_000492.3(CFTR):c.164+4dup	noncoding	Pathogenic
7	117509031	CA	C	A117509032G	CFTR	NM_000492.4(CFTR):c.165-2del	noncoding	Pathogenic
7	117509035	GA	G	A117509037T	CFTR	NM_000492.3(CFTR):c.168del:p.Glu56fs	coding	Pathogenic
7	117509040	GGATA	G	T117509043G	CFTR	NM_000492.3(CFTR):c.174_177del:p.Asp58fs	coding	Pathogenic
7	117509043	T	TA	G117509045A	CFTR	NM_000492.3(CFTR):c.175dup:p.Arg59fs	coding	Pathogenic
7	117509083	GC	G	C117509086T	CFTR	NM_000492.3(CFTR):c.217del:p.Leu73fs	coding	Pathogenic
7	117509096	G	GT	C117509103T	CFTR	NM_000492.3(CFTR):c.233dupT:p.Trp79Leufs	coding	Pathogenic
7	117509096	GT	G	T117509102C	CFTR	NM_000492.3(CFTR):c.233del:p.Phe78fs	coding	Pathogenic
7	117509109	AT	A	T117509112A	CFTR	NM_000492.4(CFTR):c.243del:p.Phe81fs	coding	Pathogenic
7	117509127	CTT	C	T117509131A	CFTR	NM_000492.3(CFTR):c.262_263del:p.Leu88fs	coding	Pathogenic
7	117530893	TTGTA	T	T117530894G	CFTR	NM_000492.4(CFTR):c.274-5_274-2del	noncoding	Pathogenic
7	117530896	TAGGAAGTCACCAAAGCAGTACAGCCTCTCTTACTGGGAAGAATCATAGCTTCCTATGACCCGGATAACAAGGAGGAACGCTCTATCGCGATTTATCTAGGCATAGGCTTATGCCTTCTCTTTATTGTGAGGACACTGCTCCTACACCCAGCCATTTTTGGCCTTCATCACATTGGAATGCAGATGAGAATAGCTATGTTTAGTTTGATTTATAAGA	T	A117530900T	CFTR	NM_000492.4(CFTR):c.275_489+1del	noncoding	Pathogenic
7	117530898	GGAAGTCACCAAAGCAGTACAGCCTCTCTTACTGGGAAGAATCATAGCTTCCTATGACCCGGATAACAAGGAGGAACGCTCTATCGCGATTTATCTAGGCATAGGCTTATGCCTTCTCTTTATTGTGAGGACACTGCTCCTACACCCAGCCATTTTTGGCCTTCATCACATTGGAATGCAGATGAGAATAGCTATGTTTAGTTTGATTTATAAGAAGGTAATACTTCCTTGCACAGGCCCCATGGCACATATATTCTGTATCGTACATGTTTTAATGTCATAAATTAGGTAGTGAGCTGGTACAAGTAAGGGATAAATGCTGAAATTAATTTAATATGCCTATTAAATAAATGGCAGGAATAATTAATGCTCTTAATTATCCTTGATAATTTAATTGACTTAAACTGATAATTATTGAGTATCTTCTGTAAACTGCCTCTGTTGTAGTTTTTTTTTTCTCCTAATCATGTTATCATTTTTTTGGAATCCATGGTTTCCTGTTAAGATGACTCACACAGCCTACATAAAAGTAATTGACAAAATATCATCTTATAGTAAAATGCCACATATCTTTATGTTCAGCAAGAAGAGTATAATATATGATTGTTAATGATAACCCAAACAACAAAAGATTTCACCTTAACTGGTTGTCATAAGTAGTAGTATCCACCGCCTTATTTTGAGTTGGATTTTTATCATCCTATGAGCCCTACAAATTTAAAGTTTTTGGAACAGCACGTGCATTGAACCCATAAGAACCTACTCTGCTTTTCTGCATGTATTGTCCAGACAAGAGACCAAATTGCCGAGGCATCATTTAGGTGAATTCTAATTAACATTTAGCTACCTTACAACCACAATTCAAGGTTGTTTCAAAGGCATGTGCTTGCATCATCCTGATTCACTACCATGTGTTACTAACTTGGATCTGCAAAGTCATTATAAAAAGCTGTTTTGATGGACTTATTTGGATATTGCTTTACCCTTCTTCTCTCTTTTCTTTTATCAATGTAAAAACATTATATGTTAAATACTTGGCTTTTAAGAGCATAGATCTGAAATCTGCCTCTAGCAAATAACCCATAACACTTCTAAGATATACCTGCAAGGTCAATTGTGTTGTAAAACCTTGATAACCATACTTTATTGTTCAAAAAAGCCTTTTATGAAGGCAGAAGTTAAAAAAAAAAAACAAAAAAAACAGAGTCCACAGTTATCACCTCAGCTACAATCTCATCAGTTCACAAGTACCAGCAAAACATGTGATAAGTCAACAAATGTTTTATTTCAATCTGAACATTTTACGTAAGTGAAGACTTTGTTAGATATCATTTGGAATGTGGAATCTACACAGTTGGCATATCAGAGAAGGTTGAATTCAGTTTAATAAATGTTTATAGAAAGTGCTTGTTATCATAATGATAATAGCTCAGGATGTGCATGACAAGCTTTTAAGCGATTGGGTACACTATCTCATTTGATCTTCTGCACAACTATTAATGGTAGGTACTATTATCCCTATCTTATGGATAAGTAAACTAAGATTTAAAAAGTACAGAACATGGTGTGAACACTGCTTCAAAATTTCTAAAATAGGTAAATCACGATCTCTAAACTGGAGGGTTGTCCAACCACTAGGGACAATAGAGTACTGATATTTAGTGGTCAGACTGTAATGCGGGAAGAGACAGGCATGGGCTAAACGGGTGTAGAGATCAAATAAGGGGCAGGTTAGTTTGTAAACATGTCCATATGTAACATTTAGCACAAATACAGGATATAGGTGCTTTCAGACCCAGCTGCATTGATAAAAAGTTAGGTGGTATTGTATCTGTCTTCCTTTCTCAATGTTGCATATCTGTGTTCTTGCCCAGTTTGCTTCATCTCTCTAGCCACACTTATTGGCCTACAATGGCATCATCACCAAAGAAGGCAATCCCATCTCCGTGTGGCTTTGGTTTGCTCCCTAAAGTAAACCTTGTGTTTACTTTTCCCAGGTCTCATGCTTTCCCATATCTGACCTGTTTTGTCCTCATGGCCAGGATATGTGGGACCTTTCCTACAATGTTCCAAAGTTTGTAATAGAGCTCTTCTCTGCTTTGTTCCAAATTCTGCAACATTTTACTTTAAATAATGAATTTAAATACAAACAAACTTGAGCTTTGCCTATACTTTTCAAGAATGCAGAGATAACTAAATTAATAAAAATATTCATTGAGTCCTTACTGTGCACACAGCTCTATGTTAAGCCTTGTGCAGAACTCAAAGTCACTCGAGATTAAGCCTGTTACTAAGTTATGTGCAATTTAGCTCAGTGGATTTCCCCCACTTCATATTGCTCTGATAATGTTTTGGAATTAACTGCCTTGATTCCTTCTTTTCTCTGCTTGTCTATACACTATTTATTATTCTACACCATCTCAAATTCTAACTCCTCAAGAAAATCCTTCCAGATGATTTTTCTAACCAGGAGTTTTAACTTCCTTTTAACTACCCTATTACTTTCTACTTCCTTAACTCATCTATCATATTATATTTAGTTATTTATATACTAGGTCGCCTTGAAGAAGGGATTGTGTTTTCATAAATCTTAATAATCCCTGAGGCATCAAGTACAGTGATTTGCATTTACTAAATGCTCAACAAATATGTGAGGGATTCACTTGAAACTAATATTAGATAATTCCCAGTCAAAGTGATCTAATAGCAAATCAATTCTTCAGTTTTATAGGCAAAGTATGACTCTGGTTTTCCATAATCATAATTAATTTGTCAACTTTATAATTTTAATTAAGTAAATTTAATTGGTAGATAAATAAGTAGATAAAAAATAATTTACCTGCTTAACTACGTTTCATATAGCATTGCATTTTTCTTTGTAAAATTTAAGAATTTTGTATTAATAAACTTTTTTACAAAAGTATTAATTATTCAGTTATTCATCATATACTTTTATTGACTTAAAAGTAATTTTATTCAAAAGAGTTAGTATAGGACTACATGAAAAATTCAAGGCCAAGGCTTAATTTCAAATTTCACTGCCTTTGGCTCTATCTTTTAAAACAAAACAAAAAACTCCCGCACAATATCAATGGGTATTTAAGTATAATATCATTCTCATTGTGAGGAGAAAAAATAATTATTTCTGCCTAGATGCTGGGAAATAAAACAACTAGAAGCATGCCAGTATAATATTGACTGTTGAAAGAAACATTTATGAACCTGAGAAGATAGTAAGCTAGATGAATAGAATATAATTTTCATTACCTTTACTTAATAATGAATGCATAATAACTGAATTAGTCATATTATAATTTTACTTATAATATATTTGTATTTTGTTTGTTGAAATTATCTAACTTTCCATTTTTCTTTTAGACTTTAAAGCTGTCAAGCCGTGTTCTAGATAAAATAAGTATTGGACAACTTGTTAGTCTCCTTTCCAACAACCTGAACAAATTTGATGAA	G	A117530900T	CFTR	NM_000492.4(CFTR):c.275_579+1del	coding	Pathogenic
7	117530927	T	TA	C117530929A	CFTR	NM_000492.3(CFTR):c.303dup:p.Leu102fs	coding	Pathogenic
7	117530933	GA	G	A117530935G	CFTR	NM_000492.3(CFTR):c.310del:p.Arg104fs	coding	Pathogenic
7	117530936	GA	G	A117530938T	CFTR	NM_000492.3(CFTR):c.313del:p.Ile105fs	coding	Pathogenic
7	117530941	ATAGCTTCC	A	G117530944T	CFTR	NM_000492.3(CFTR):c.319_326del:p.Ile106_Ala107insTer	coding	Pathogenic
7	117530950	TAT	G	T117530950G	CFTR	NM_000492.3(CFTR):c.325_327delinsG:p.Tyr109fs	coding	Pathogenic
7	117531033	GC	G	C117531034T	CFTR	NM_000492.3(CFTR):c.409del:p.Leu137fs	coding	Pathogenic
7	117531033	GCTCC	G	C117531034T	CFTR	NM_000492.3(CFTR):c.409_412del:p.Leu137fs	coding	Pathogenic
7	117531034	CTCCTACA	C	T117531035C	CFTR	NM_000492.4(CFTR):c.410_416del:p.Leu137fs	coding	Pathogenic
7	117531036	C	CCTA	A117531041T	CFTR	NM_000492.3(CFTR):c.413_415dup:p.Leu138dup	coding	Pathogenic
7	117531048	CA	C	A117531049T	CFTR	NM_000492.3(CFTR):c.424del:p.Ile142fs	coding	Pathogenic
7	117531049	AT	A	T117531054G	CFTR	NM_000492.3(CFTR):c.429del:p.Phe143fs	coding	Pathogenic
7	117531056	GC	G	C117531058T	CFTR	NM_000492.4(CFTR):c.433del:p.Leu145fs	coding	Pathogenic
7	117531066	CA	C	A117531067T	CFTR	NM_000492.3(CFTR):c.442del:p.Ile148fs	coding	Pathogenic
7	117531083	GAATAGCTATGTTTAGTTT	G	A117531084G	CFTR	NM_000492.3(CFTR):c.459_476del:p.Ala155_Ile160del	coding	Pathogenic
7	117531093	GTTTAGTTTGATTTA	G	T117531095A	CFTR	NM_000492.3(CFTR):c.470_483del:p.Met156_Phe157insTer	coding	Pathogenic
7	117531108	T	TCC	A117531109C	CFTR	NM_000492.3(CFTR):c.483_484insCC:p.Lys162fs	coding	Pathogenic
7	117531111	GA	G	A117531113G	CFTR	NM_000492.3(CFTR):c.488del:p.Lys163fs	coding	Pathogenic/Likely_pathogenic
7	117534315	A	AT	G117534318T	CFTR	NM_000492.3(CFTR):c.531dup:p.Gly178fs	coding	Pathogenic/Likely_pathogenic
7	117534315	AT	A	T117534317G	CFTR	NM_000492.3(CFTR):c.531del:p.Ile177fs	coding	Pathogenic
7	117534326	TGTTA	T	T117534329C	CFTR	NM_000492.3(CFTR):c.543_546del:p.Leu183fs	coding	Pathogenic
7	117534329	T	TA	G117534331A	CFTR	NM_000492.4(CFTR):c.544dup:p.Ser182fs	coding	Pathogenic
7	117534344	CA	C	A117534346C	CFTR	NM_000492.4(CFTR):c.560del:p.Asn187fs	coding	Pathogenic
7	117535253	T	TG	C117535255G	CFTR	NM_000492.4(CFTR):c.586dup:p.Ala196fs	coding	Pathogenic
7	117535268	CG	C	G117535269T	CFTR	NM_000492.3(CFTR):c.601del:p.Val201fs	coding	Pathogenic
7	117535337	CT	C	T117535339C	CFTR	NM_000492.4(CFTR):c.671del:p.Phe224fs	coding	Pathogenic
7	117535371	CT	C	T117535376C	CFTR	NM_000492.4(CFTR):c.708del:p.Gln237fs	coding	Pathogenic
7	117535382	TG	T	G117535385C	CFTR	NM_000492.3(CFTR):c.717del:p.Gly239_Leu240insTer	coding	Pathogenic
7	117535387	TAGGGAGAATGATGATGAAGTAC	T	G117535391T	CFTR	NM_000492.3(CFTR):c.723_743+1del	coding	Pathogenic
7	117535406	G	GTACA	G117535411T	CFTR	NM_000492.3(CFTR):c.739_742dup:p.Arg248fs	coding	Pathogenic/Likely_pathogenic
7	117536514	A	AGATT	T117536543G	CFTR	NM_000492.3(CFTR):c.744-33GATT[8]	noncoding	Benign/Likely_benign
7	117536514	AGATT	A	G117536539T	CFTR	NM_000492.3(CFTR):c.744-33GATT[6]	noncoding	Benign
7	117536533	TTGATTGATTTAC	T	T117536534A	CFTR	NM_000492.3(CFTR):c.744-14_744-3del	noncoding	Pathogenic
7	117536539	G	GGATT	A117536540G	CFTR	NM_000492.4(CFTR):c.744-9_744-8insGATT	noncoding	Benign
7	117536559	C	GCTGGGAAGAT	C117536559G	CFTR	NM_000492.4(CFTR):c.755delinsGCTGGGAAGAT:p.Ala252fs	coding	Pathogenic
7	117536576	AG	A	G117536577A	CFTR	NM_000492.3(CFTR):c.773del:p.Arg258fs	coding	Pathogenic
7	117536603	GA	G	A117536607T	CFTR	NM_000492.3(CFTR):c.803del:p.Asn268fs	coding	Pathogenic
7	117536606	AAT	A	A117536609C	CFTR	NM_000492.3(CFTR):c.805_806delAT	coding	Pathogenic
7	117536648	G	GA	T117536655A	CFTR	NM_000492.3(CFTR):c.850dup:p.Met284fs	coding	Pathogenic
7	117536652	AAATGATTGAAAA	TG	A117536652T	CFTR	NM_000492.3(CFTR):c.848_860delinsTG:p.Lys283fs	coding	Pathogenic
7	117536660	G	GA	C117536665A	CFTR	NM_000492.3(CFTR):c.860dup:p.Asn287fs	coding	Pathogenic
7	117536662	AAACTT	A	C117536665G	CFTR	NM_000492.3(CFTR):c.861_865del:p.Asn287fs	coding	Pathogenic
7	117536667	TAAGAC	T	A117536669G	CFTR	NM_000492.4(CFTR):c.866_870del:p.Arg289fs	coding	Pathogenic
7	117538986	AGAAT	A	G117538987A	CFTR	NM_000492.3(CFTR):c.870-1113_870-1110del	noncoding	Pathogenic
7	117540102	CAG	C	G117540104A	CFTR	NM_000492.4(CFTR):c.874_875del:p.Glu292fs	coding	Pathogenic
7	117540156	CCTT	C	T117540165C	CFTR	NM_000492.3(CFTR):c.935_937delTCT:p.Phe312del	coding	Pathogenic/Likely_pathogenic
7	117540159	TC	T	C117540160T	CFTR	NM_000492.4(CFTR):c.930del:p.Phe311fs	coding	Pathogenic
7	117540175	CT	C	T117540178G	CFTR	NM_000492.3(CFTR):c.948del:p.Phe316fs	coding	Pathogenic
7	117540184	GT	G	T117540189A	CFTR	NM_000492.4(CFTR):c.959del:p.Leu320fs	coding	Pathogenic
7	117540214	CA	C	A117540217G	CFTR	NM_000492.3(CFTR):c.987del:p.Gly330fs	coding	Pathogenic
7	117540235	A	AATATTCACCACC	C117540250A	CFTR	NM_000492.3(CFTR):c.1008_1019dup:p.Phe337_Ile340dup	coding	Pathogenic
7	117540236	A	AG	T117540237G	CFTR	NM_000492.3(CFTR):c.1006_1007insG:p.Ile336fs	coding	Pathogenic
7	117540248	A	ATC	A117540253T	CFTR	NM_000492.4(CFTR):c.1019_1020TC[3]:p.Phe342fs	coding	Pathogenic
7	117540258	GC	G	C117540259A	CFTR	NM_000492.3(CFTR):c.1029del:p.Phe342_Cys343insTer	coding	Pathogenic
7	117540310	AT	A	T117540311G	CFTR	NM_000492.3(CFTR):c.1081del:p.Trp361fs	coding	Pathogenic
7	117540311	TG	T	G117540313T	CFTR	NM_000492.3(CFTR):c.1083del:p.Trp361fs	coding	Pathogenic
7	117540313	G	GTATGA	C117540319T	CFTR	NM_000492.4(CFTR):c.1084_1088dup:p.Ser364fs	coding	Pathogenic
7	117540318	ACT	A	C117540323T	CFTR	NM_000492.3(CFTR):c.1093_1094delCT	coding	Pathogenic
7	117540344	CA	C	A117540345G	CFTR	NM_000492.4(CFTR):c.1115del:p.Gln372fs	coding	Pathogenic
7	117541987	AAT	A	A117541990G	CFTR	NM_000492.4(CFTR):c.1117-26_1117-25del	noncoding	Benign
7	117542025	C	CA	G117542030A	CFTR	NM_000492.3(CFTR):c.1130dup:p.Gln378fs	coding	Pathogenic
7	117542050	A	AAT	A117542056T	CFTR	NM_000492.4(CFTR):c.1153_1154TA[3]:p.Asn386fs	coding	Pathogenic
7	117542058	TTAACGAC	T	A117542061C	CFTR	NM_000492.3(CFTR):c.1162_1168del:p.Thr388fs	coding	Pathogenic
7	117542094	GC	G	C117542096T	CFTR	NM_000492.4(CFTR):c.1197del:p.Phe400fs	coding	Pathogenic
7	117548606	A	ATG	T117548630G	CFTR	NM_000492.3(CFTR):c.1210-34_1210-33TG[12]	noncoding	Benign
7	117548606	A	ATGTG	T117548630G	CFTR	NM_000492.4(CFTR):c.1210-34TG[13]	noncoding	Benign
7	117548606	ATG	A	G117548628T	CFTR	NM_000492.4(CFTR):c.1210-34TG[10]	noncoding	Benign/Likely_benign
7	117548606	ATGTG	A	G117548626T	CFTR	NM_000492.4(CFTR):c.1210-34TG[9]	noncoding	Benign
7	117548606	ATGTGTG	A	G117548624T	CFTR	NM_000492.3(CFTR):c.1210-17_1210-12del	noncoding	Benign
7	117548626	G	GGTGT	T117548627G	CFTR;CFTR-AS1	NM_000492.4(CFTR):c.1210-15_1210-14insGTGT	noncoding	Benign
7	117548626	GTG	T	G117548626T	CFTR;CFTR-AS1	NM_000492.4(CFTR):c.1210-15_1210-13delinsT	noncoding	Benign
7	117548627	T	TTG	G117548628T	CFTR	NM_000492.3(CFTR):c.1210-14_1210-13insTG	noncoding	Benign
7	117548628	G	GGT	T117548629G	CFTR;CFTR-AS1	NM_000492.4(CFTR):c.1210-13_1210-12insGT	noncoding	Benign
7	117548628	G	GTT	A117548636T	CFTR	NM_000492.3(CFTR):c.1210-12T[9]	noncoding	Benign/Likely_benign
7	117548628	GTTTT	G	T117548632A	CFTR	NM_000492.4(CFTR):c.1210-9_1210-6del	noncoding	Pathogenic
7	117548630	T	GTG	T117548630G	CFTR	NM_000492.4(CFTR):c.1210-11delinsGTG	noncoding	Pathogenic
7	117548630	T	TG	T117548631G	CFTR	NM_000492.4(CFTR):c.1210-11_1210-10insG	noncoding	Pathogenic
7	117548638	CAGGGATTTGGGGAATTATTTGAGAAAGCAAAACAAAACAATAACAATAGAAAAACTTCTAATGGTGATGACAGCCTCTTCTTCAGTAATTTCTCACTTCTTGGTACTCCTGTCCTGAAAGATATTAATTTCAAGATAGAAAGAGGACAGTTGTTGGCGGTTGCTGGATCCACTGGAGCAGGCA	C	G117548642T	CFTR	NM_000492.4(CFTR):c.1211_1392+1del	noncoding	Pathogenic
7	117548639	AG	A	G117548642A	CFTR	NM_000492.3(CFTR):c.1211delG	noncoding	Pathogenic
7	117548661	GAAAGC	G	G117548665A	CFTR	NM_000492.4(CFTR):c.1234_1238delGCAAA	coding	Pathogenic
7	117548665	GC	G	C117548666A	CFTR	NM_000492.3(CFTR):c.1235del:p.Ala412fs	coding	Pathogenic
7	117548678	A	AT	A117548680T	CFTR	NM_000492.4(CFTR):c.1248dup:p.Asn417Ter	coding	Pathogenic
7	117548727	TTTCTCAC	T	C117548732T	CFTR	NM_000492.3(CFTR):c.1301_1307del:p.Ser434fs	coding	Pathogenic
7	117548753	TGAAAGATATTAATTTCAAGATA	T	T117548760G	CFTR	NM_000492.3(CFTR):c.1329_1350del:p.Asp443fs	coding	Pathogenic
7	117548756	A	AAGAT	T117548762G	CFTR	NM_000492.4(CFTR):c.1327_1330dup:p.Ile444fs	coding	Pathogenic
7	117548758	GAT	G	A117548761T	CFTR	NM_000492.4(CFTR):c.1328_1329AT[1]:p.Asp443_Ile444insTer	coding	Pathogenic/Likely_pathogenic
7	117548769	CA	C	A117548771G	CFTR	NM_000492.3(CFTR):c.1340del:p.Lys447fs	coding	Pathogenic
7	117548795	CGG	C	G117548796T	CFTR	NM_000492.3(CFTR):c.1365_1366del:p.Val456fs	coding	Pathogenic
7	117548802	TG	T	G117548804A	CFTR	NM_000492.3(CFTR):c.1373del:p.Gly458fs	coding	Pathogenic
7	117548874	C	CT	C117548884T	CFTR	NM_000492.4(CFTR):c.1392+60dup	noncoding	Benign
7	117559477	TGGTGATTATG	T	T117559480A	CFTR	NM_000492.3(CFTR):c.1409_1418del:p.Val470fs	coding	Pathogenic/Likely_pathogenic
7	117559486	TG	T	G117559489A	CFTR	NM_000492.3(CFTR):c.1418del:p.Gly473fs	coding	Pathogenic
7	117559547	TCA	T	C117559548G	CFTR	NM_000492.3(CFTR):c.1477_1478del:p.Gln493fs	coding	Pathogenic
7	117559556	CT	C	T117559557G	CFTR	NM_000492.4(CFTR):c.1486del:p.Trp496fs	coding	Pathogenic
7	117559586	TATC	T	A117559590T	CFTR	NM_000492.4(CFTR):c.1516ATC[1]:p.Ile507del	coding	Pathogenic
7	117559590	ATCT	A	C117559592T	CFTR	NM_000492.3(CFTR):c.1521_1523delCTT:p.Phe508delPhe	coding	Pathogenic
7	117559599	GTT	G	T117559601C	CFTR	NM_000492.4(CFTR):c.1530_1531del:p.Ser511fs	coding	Pathogenic
7	117559610	TGAATATAGATACA	T	T117559614G	CFTR	NM_000492.3(CFTR):c.1543_1555del:p.Tyr515fs	coding	Pathogenic
7	117559612	AAT	A	T117559616G	CFTR	NM_000492.4(CFTR):c.1545_1546del:p.Tyr515_Arg516delinsTer	coding	Pathogenic
7	117587736	TAGGACATCTCCAAGTTTGCAGAGAAAGACAATATAGTTCTTGGAGAAGGTGGAATCACACTGAGTGGAGGTCAACGAGCAAGAATTTCTTTAGCA	T	A117587740T	CFTR	NM_000492.4(CFTR):c.1586_1679+1del	noncoding	Pathogenic
7	117587766	A	AAT	G117587772T	CFTR	NM_000492.4(CFTR):c.1614_1615TA[3]:p.Val540Ter	coding	Pathogenic
7	117587795	ACT	A	C117587796G	CFTR	NM_000492.3(CFTR):c.1642_1643del:p.Leu548fs	coding	Pathogenic
7	117587803	GA	G	A117587804G	CFTR	NM_000492.3(CFTR):c.1650del:p.Gly551fs	coding	Pathogenic
7	117587808	CA	C	A117587810C	CFTR	NM_000492.3(CFTR):c.1656del:p.Gln552fs	coding	Pathogenic
7	117587823	TC	T	C117587824T	CFTR	NM_000492.3(CFTR):c.1670del:p.Ser557fs	coding	Pathogenic
7	117587827	TA	T	A117587828G	CFTR	NM_000492.3(CFTR):c.1674del:p.Ala559fs	coding	Pathogenic
7	117590362	CA	C	A117590365G	CFTR	NM_000492.3(CFTR):c.1692del:p.Asp565fs	coding	Pathogenic
7	117590373	AT	A	T117590376G	CFTR	NM_000492.3(CFTR):c.1703del:p.Leu568fs	coding	Pathogenic
7	117590405	CTA	C	T117590406G	CFTR	NM_000492.3(CFTR):c.1733_1734del:p.Leu578fs	coding	Pathogenic
7	117590411	G	GT	A117590416T	CFTR	NM_000492.3(CFTR):c.1742dup:p.Leu581fs	coding	Pathogenic
7	117591958	CAAAACTA	C	A117591959G	CFTR	NM_000492.3(CFTR):c.1792_1798del:p.Lys598fs	coding	Pathogenic
7	117591983	AAAATGGAACATTTAAAGAAAGCTGACAAAATATTAATTTTGCATGAAGGTAGCAGCTATTTTTATGGGACATTTTCAGAACTCC	A	T117591987A	CFTR	NM_000492.3(CFTR):c.1820_1903del:p.Met607_Gln634del	coding	Pathogenic/Likely_pathogenic
7	117592067	CA	C	A117592071T	CFTR	NM_000492.4(CFTR):c.1904del:p.Asn635fs	coding	Pathogenic
7	117592077	AG	A	G117592078C	CFTR	NM_000492.3(CFTR):c.1911del:p.Gln637fs	coding	Pathogenic
7	117592086	T	TTA	G117592089T	CFTR	NM_000492.4(CFTR):c.1920_1921dup:p.Ser641fs	coding	Pathogenic
7	117592090	CTCAAAACT	A	C117592090A	CFTR	NM_000492.3(CFTR):c.1923_1931delinsA:p.Ser641fs	coding	Pathogenic
7	117592109	GA	G	A117592110T	CFTR	NM_000492.3(CFTR):c.1943del:p.Asp648fs	coding	Pathogenic
7	117592140	GAAATTCAATCCT	AGAAA	G117592140A	CFTR	NM_000492.3(CFTR):c.1973_1985delinsAGAAA:p.Arg658fs	coding	Pathogenic
7	117592146	CA	C	A117592148T	CFTR	NM_000492.3(CFTR):c.1981del:p.Ile661fs	coding	Pathogenic
7	117592150	CCTAA	C	A117592153G	CFTR	NM_000492.3(CFTR):c.1986_1989del:p.Thr663fs	coding	Pathogenic
7	117592177	AT	A	T117592179A	CFTR	NM_000492.3(CFTR):c.2012del:p.Ser670_Leu671insTer	coding	Pathogenic
7	117592208	G	GA	C117592212A	CFTR	NM_000492.4(CFTR):c.2044dup:p.Thr682fs	coding	Pathogenic
7	117592211	A	AC	A117592213C	CFTR	NM_000492.3(CFTR):c.2045dup:p.Gln685fs	coding	Pathogenic
7	117592211	AC	A	C117592212A	CFTR	NM_000492.4(CFTR):c.2045del:p.Thr682fs	coding	Pathogenic
7	117592212	CAA	C	A117592218C	CFTR	NM_000492.3(CFTR):c.2051_2052del:p.Lys684fs	coding	Pathogenic
7	117592212	CA	C	A117592219C	CFTR	NM_000492.4(CFTR):c.2052del:p.Lys684fs	coding	Pathogenic
7	117592212	C	CAA	C117592220A	CFTR	NM_000492.4(CFTR):c.2051_2052dup:p.Gln685fs	coding	Pathogenic
7	117592212	C	CA	C117592220A	CFTR	NM_000492.3(CFTR):c.2052dupA:p.Gln685Thrfs	coding	Pathogenic
7	117592218	AA	G	A117592218G	CFTR	NM_000492.3(CFTR):c.2051_2052delinsG:p.Lys684fs	coding	Pathogenic
7	117592219	A	AC	A117592221C	CFTR	NM_000492.3(CFTR):c.2053dup:p.Gln685fs	coding	Pathogenic
7	117592246	T	TG	A117592251G	CFTR	NM_000492.3(CFTR):c.2083dup:p.Glu695fs	coding	Pathogenic
7	117592250	GA	G	A117592256G	CFTR	NM_000492.4(CFTR):c.2089del:p.Arg697fs	coding	Pathogenic
7	117592250	G	GA	G117592257A	CFTR	NM_000492.3(CFTR):c.2089dup:p.Arg697fs	coding	Pathogenic
7	117592312	AA	GT	A117592312G	CFTR	NM_000492.3(CFTR):c.2145_2146delinsGT:p.Lys716Ter	coding	Pathogenic
7	117592340	G	GA	G117592343A	CFTR	NM_000492.3(CFTR):c.2175dup:p.Glu726Argfs	coding	Pathogenic
7	117592381	AG	A	G117592382T	CFTR	NM_000492.3(CFTR):c.2215del:p.Val739fs	coding	Pathogenic
7	117592405	GGCGATACT	G	G117592408C	CFTR	NM_000492.3(CFTR):c.2241_2248del:p.Ile748fs	coding	Pathogenic
7	117592414	GCCTCGCAT	G	C117592416A	CFTR	NM_000492.3(CFTR):c.2249_2256del:p.Pro750fs	coding	Pathogenic
7	117592457	CG	C	G117592458A	CFTR	NM_000492.3(CFTR):c.2291del:p.Arg764fs	coding	Pathogenic
7	117592486	GAC	G	A117592491T	CFTR	NM_000492.3(CFTR):c.2324_2325delAC	coding	Pathogenic
7	117592539	CA	C	A117592540C	CFTR	NM_000492.4(CFTR):c.2373del:p.Arg792fs	coding	Pathogenic
7	117592583	G	GAT	T117592592A	CFTR	NM_000492.3(CFTR):c.2424_2425insAT	coding	Pathogenic
7	117592609	AG	A	G117592610A	CFTR	NM_000492.4(CFTR):c.2443del:p.Glu815fs	coding	Pathogenic
7	117592615	TG	T	G117592617C	CFTR	NM_000492.4(CFTR):c.2450del:p.Gly817fs	coding	Pathogenic
7	117592618	CT	C	T117592620G	CFTR	NM_000492.3(CFTR):c.2453del:p.Leu818fs	coding	Pathogenic
7	117592628	AGT	A	T117592630A	CFTR	NM_000492.3(CFTR):c.2463_2464del:p.Ser821fs	coding	Pathogenic
7	117594927	CAGGAGTGCTTTTTTGATGATATGGAGAGCATACCAGCAGTGACTACATGGAACACATACCTTCGATATATTACTGTCCACAAGAGCTTAATTTTTGTGCTAATTTGGTGCTTAGTAATTTTTCTGGCAG	C	A117594931T	CFTR	NM_000492.4(CFTR):c.2492_2619+1del	noncoding	Pathogenic
7	117594935	C	CT	G117594942T	CFTR	NM_000492.3(CFTR):c.2502dup:p.Asp835Ter	coding	Pathogenic
7	117594935	CT	C	T117594941G	CFTR	NM_000492.3(CFTR):c.2502del:p.Phe834fs	coding	Pathogenic
7	117594946	AT	A	T117594947A	CFTR	NM_000492.3(CFTR):c.2508del:p.Asp836fs	coding	Pathogenic
7	117594992	A	AT	A117594994T	CFTR	NM_000492.3(CFTR):c.2554dup:p.Tyr852fs	coding	Pathogenic
7	117595017	AT	A	T117595022G	CFTR	NM_000492.3(CFTR):c.2583del:p.Phe861fs	coding	Pathogenic
7	117595022	TGTGCTAATTTG	T	A117595028T	CFTR	NM_000492.3(CFTR):c.2589_2599del:p.Ile864fs	coding	Pathogenic
7	117595039	T	TA	G117595041A	CFTR	NM_000492.3(CFTR):c.2601dup:p.Val868fs	coding	Pathogenic
7	117595142	CAT	C	T117595144A	CFTR	NM_000492.4(CFTR):c.2619+86_2619+87del	noncoding	Benign
7	117602842	T	TTG	C117602847T	CFTR	NM_000492.4(CFTR):c.2637_2638TG[3]:p.Leu881fs	coding	Pathogenic
7	117602864	G	GA	T117602865A	CFTR	NM_000492.3(CFTR):c.2657+1_2657+2insA	noncoding	Pathogenic
7	117603611	T	TG	A117603612G	CFTR	NM_000492.4(CFTR):c.2737_2738insG:p.Tyr913Ter	coding	Pathogenic
7	117603635	G	GGA	T117603639A	CFTR	NM_000492.3(CFTR):c.2763_2764dup:p.Val922fs	coding	Pathogenic
7	117603679	ACCACT	TCAGA	A117603679T	CFTR	NM_000492.3(CFTR):c.2805_2810delinsTCAGA:p.Pro936fs	coding	Pathogenic/Likely_pathogenic
7	117603683	C	CT	G117603685T	CFTR	NM_000492.3(CFTR):c.2810dup:p.Val938fs	coding	Pathogenic
7	117603684	T	TG	T117603687G	CFTR	NM_000492.4(CFTR):c.2812dup:p.Val938fs	coding	Pathogenic
7	117603698	AT	A	T117603699C	CFTR	NM_000492.3(CFTR):c.2825del:p.Ile942fs	coding	Pathogenic
7	117603732	TACATTCTGTTCTTCAAGCACCTATGTCAACCC	T	A117603733T	CFTR	NM_000492.3(CFTR):c.2859_2890del:p.Leu953fs	coding	Pathogenic
7	117603748	AG	A	G117603749C	CFTR	NM_000492.3(CFTR):c.2875del:p.Ala959fs	coding	Pathogenic
7	117603752	CCTAT	C	C117603753G	CFTR	NM_000492.4(CFTR):c.2879_2882del:p.Pro960fs	coding	Pathogenic
7	117603769	CA	C	A117603770C	CFTR	NM_000492.3(CFTR):c.2896del:p.Thr966fs	coding	Pathogenic
7	117606672	AG	A	G117606674T	CFTR	NM_000492.3(CFTR):c.2909delG	noncoding	Pathogenic
7	117606687	TAG	T	G117606689T	CFTR	NM_000492.4(CFTR):c.2924_2925del:p.Arg975fs	coding	Pathogenic
7	117609539	TATGTATTTGGTGTAATGTAGAAATATAGAAATTTATTAAGTATGATTTATTTCAATGTTAAGCATGAGAAAATATGCTCCGAAAGGTTAGATAGCTTGCCTAAATGACAAGCTTGTATTTCAAGCAGAACTTTCTGAATCAAAAGACTCCAAGACGAATGCCCAGCTTTCAAAAACTGTCTAACCAAAATAAATCCTAAGATTCACCTTCATACTAAAATTATTTAAAAATAGTTTATTTTAAATTAATATTCACTTAAAATGTATTTATCATGCAATACTTTAAAGTGTCTGGGAAATGAAAATATCCAAAGATCAAAGAACACCATGTTTTCAAACTTCAAAAATGTTATCAGTGACCTAAACAATTTTTAAAATTTTCATAGAGCCTATGAAAAATGTACTTGCAAATGGCTACTTTCTGACTAGGAATAGAATGGGGAGAGTATTTAGTCCAACAATGATAGACTGGATTAAGAAAATGTGGCACATATACACCATGGAACACTATGCAGCCATAAAAAATGATGAGTTCATGTCCTTTGTAGGGACATGGATGAAATTGGAAAACATCATTCTCAGTAAACTATCGCAAGAACAAAAAACCAAACACCGCATATTCTCACTCATAGGTGGGAATTGAACAATGAGATCACATGGACACAGGAAGGGGAATATCACACTCTGGGGACTGTTGTGGGGTGGGGGGAGGGGGGAGGGATAGCACTGGGAGATATACCTAATGCTAGATGACGAGTTAGTGGGTGCAGTGCACCAGCATGGCACATGTATACATATGTAACTAACCTGCACAATGTGCACATGTACCCTAAAACTTAAAGTATAATAAAAAAAATAAAAAAAAGTTTGAGGTGTTTAAAGTATGCAAAAAAAAAAAAAGAAATAAATCACTGACACACTTTGTCCACTTTGCAATGTGAAAATGTTTACTCACCAACATGTTTTCTTTGATCTTACAGTTGTTATTAATTGTGATTGGAGCTATAGCAGTTGTCGCAGTTTTACAACCCTACATCTTTGTTGCAACAGTGCCAGTGATAGTGGCTTTTATTATGTTGAGAGCATATTTCCTCCAAACCTCACAGCAACTCAAACAACTGGAATCTGAAGGTATGACAGTGAATGTGCGATACTCATCTTGTAAAAAAGCTATAAGAGCTATTTGAGATTCTTTATTGTTAATCTACTTAAAAAAAATTCTGCTTTTAAACTTTTACATCATATAACAATAATTTTTTTCTACATGCATGTGTATATAAAAGGAAACTATATTACAAAGTACACATGGATTTTTTTTCTTAATTAATGACCATGTGACTTCATTTTGGTTTTAAAATAGGTATATAGAATCTTACCACAGTTGGTGTACAGGACATTCATTTATAATAAACTTATATCAGTCAAATTAAACAAGGATAGTGCTGCTATTACTAAAGGTTTCTCTGGGTTCCCAAATGATACTTGACCAAATTTGTCCCTTTGGCTTGTTGTCTTCAGACACCCTTTCTTCATGTGTTGGAGCTGCCATTTCGTGTGCCCCCAAACTCTACTTGAGCTGTTAGGGAATCACATTTTGCAGTGACAGCCTTAGTGTGGGTGCATTTTCAGGCAATACTTTTTCAGTATATTTCTGCTTTGTAGATTATTAGCTAAATCAAGTCACATAAACTTCCTTAATTTAGATACTTGAAAAAATTGTCTTAAAAGAAAATTTTTTTAGTAAGAATTAATTTAGAATTAGCCAGAAAACTCCCAGTGGTAGCCAAGAAAGAGGAATAAATATTGGTGGTAATTTTTTAAGTTCCCATCTCTGGTAGCCAAGTAAAAAAAGAGGGTAACTCATTAATAAAATAACAAATCATATCTATTCAAAGAATGGCACCAGTGTGAAAAAAAGCTTTTTAACCAATGACATTTGTGATATGATTATTCTAATTTAGTCTTTTTCAGGTACAAGATATTATGAAATTACATTTTGTGTTTATGTTATTTGCAATGTTTTCTATGGAAATATTTCACAGGCAGGAGTCCAATTTTCACTCATCTTGTTACAAGCTTAAAAGGACTATGGACACTTCGTGCCTTCGGACGGCAGCCTTACTTTGAAACTCTGTTCCACAAAGCTCTGAATTTACATACTGCCAACTGGTTCTTGTACCTGTCAACACTGCGCTGGTTCCAAATGAGAATAGAAATGATTTTTGTCATCTTCTTCATTGCTGTTACCTTCATTTCCATTTTAACAACAGGTACTATGAACTCATTAACTTTAGCTAAGCATTTAAGTAAAAAATTTTCAATGAATAAAATGCTGCATTCTATAGGTTATCAATTTTTGATATCTTTAGAGTTTAGTAATTAACAAATTTGTTGGTTTATTATTGAACAAGTGATTTCTTTGAATTTCCATTGTTTTATTGTTAAACAAATAATTTCCTTGAAATCGGATATATATATATATATGTATATATATATATATATATATATATATATAC	T	G117609542A	CFTR	NM_000492.4(CFTR):c.2989-977_3367+248del	noncoding	Pathogenic
7	117609611	ATATGCTCCGAAAGGTTAGATAGCTTGCCTAAATGACAAGCTTGTATTTCAAGCAGAACTTTCTGAATCAAAAGACTCCAAGACGAATGCCCAGCTTTCAAAAACTGTCTAACCAAAATAAATCCTAAGATTCACCTTCATACTAAAATTATTTAAAAATAGTTTATTTTAAATTAATATTCACTTAAAATGTATTTATCATGCAATACTTTAAAGTGTCTGGGAAATGAAAATATCCAAAGATCAAAGAACACCATGTTTTCAAACTTCAAAAATGTTATCAGTGACCTAAACAATTTTTAAAATTTTCATAGAGCCTATGAAAAATGTACTTGCAAATGGCTACTTTCTGACTAGGAATAGAATGGGGAGAGTATTTAGTCCAACAATGATAGACTGGATTAAGAAAATGTGGCACATATACACCATGGAACACTATGCAGCCATAAAAAATGATGAGTTCATGTCCTTTGTAGGGACATGGATGAAATTGGAAAACATCATTCTCAGTAAACTATCGCAAGAACAAAAAACCAAACACCGCATATTCTCACTCATAGGTGGGAATTGAACAATGAGATCACATGGACACAGGAAGGGGAATATCACACTCTGGGGACTGTTGTGGGGTGGGGGGAGGGGGGAGGGATAGCACTGGGAGATATACCTAATGCTAGATGACGAGTTAGTGGGTGCAGTGCACCAGCATGGCACATGTATACATATGTAACTAACCTGCACAATGTGCACATGTACCCTAAAACTTAAAGTATAATAAAAAAAATAAAAAAAAGTTTGAGGTGTTTAAAGTATGCAAAAAAAAAAAAAGAAATAAATCACTGACACACTTTGTCCACTTTGCAATGTGAAAATGTTTACTCACCAACATGTTTTCTTTGATCTTACAGTTGTTATTAATTGTGATTGGAGCTATAGCAGTTGTCGCAGTTTTACAACCCTACATCTTTGTTGCAACAGTGCCAGTGATAGTGGCTTTTATTATGT	GACAG	A117609611G	CFTR	NM_000492.4(CFTR):c.2989-908_3085delinsGACAG	noncoding	Pathogenic
7	117610425	CA	C	A117610438G	CFTR	NM_000492.4(CFTR):c.2989-81del	noncoding	Benign
7	117610514	TACAGTTGTTATTAATTGTGATTGGAGCTATAGCAGTTGTCGCAGTTTTACAACCCTACATCTTTGTTGCAACAGTGCCAGTGATAGTGGCTTTTATTATGTTGAGAGCATATTTCCTCCAAACCTCACAGCAACTCAAACAACTGGAATCTGAAGGTATGACAGTGAATGTGCGATACTCATCTTGTAAAAAAGCTATAAGAGCTATTTGAGATTCTTTATTGTTAATCTACTTAAAAAAAATTCTGCTTTTAAACTTTTACATCATATAACAATAATTTTTTTCTACATGCATGTGTATATAAAAGGAAACTATATTACAAAGTACACATGGATTTTTTTTCTTAATTAATGACCATGTGACTTCATTTTGGTTTTAAAATAGGTATATAGAATCTTACCACAGTTGGTGTACAGGACATTCATTTATAATAAACTTATATCAGTCAAATTAAACAAGGATAGTGCTGCTATTACTAAAGGTTTCTCTGGGTTCCCAAATGATACTTGACCAAATTTGTCCCTTTGGCTTGTTGTCTTCAGACACCCTTTCTTCATGTGTTGGAGCTGCCATTTCGTGTGCCCCCAAACTCTACTTGAGCTGTTAGGGAATCACATTTTGCAGTGACAGCCTTAGTGTGGGTGCATTTTCAGGCAATACTTTTTCAGTATATTTCTGCTTTGTAGATTATTAGCTAAATCAAGTCACATAAACTTCCTTAATTTAGATACTTGAAAAAATTGTCTTAAAAGAAAATTTTTTTAGTAAGAATTAATTTAGAATTAGCCAGAAAACTCCCAGTGGTAGCCAAGAAAGAGGAATAAATATTGGTGGTAATTTTTTAAGTTCCCATCTCTGGTAGCCAAGTAAAAAAAGAGGGTAACTCATTAATAAAATAACAAATCATATCTATTCAAAGAATGGCACCAGTGTGAAAAAAAGCTTTTTAACCAATGACATTTGTGATATGATTATTCTAATTTAGTCTTTTTCAGGTACAAGATATTATGAAATTACATTTTGTGTTTATGTTATTTGCAATGTTTTCTATGGAAATATTTCACAGGCAGGAGTCCAATTTTCACTCATCTTGTTACAAGCTTAAAAGGACTATGGACACTTCGTGCCTTCGGACGGCAGCCTTACTTTGAAACTCTGTTCCACAAAGCTCTGAATTTACATACTGCCAACTGGTTCTTGTACCTGTCAACACTGCGCTGGTTCCAAATGAGAATAGAAATGATTTTTGTCATCTTCTTCATTGCTGTTACCTTCATTTCCATTTTAACA	T	T117610519G	CFTR	NM_000492.3(CFTR):c.(3120+1_3121-1)_(3499+1_3500-1)del	noncoding	Pathogenic
7	117610516	CAGTTGTTATTAATTGTGATTGGAGCTATAGCAGTTGTCGCAGTTTTACAACCCTACATCTTTGTTGCAACAGTGCCAGTGATAGTGGCTTTTATTATGTTGAGAGCATATTTCCTCCAAACCTCACAGCAACTCAAACAACTGGAATCTGA	C	T117610519G	CFTR	NM_000492.3(CFTR):c.2989_3139del151	noncoding	Pathogenic
7	117610523	TATTA	T	A117610527G	CFTR	NM_000492.3(CFTR):c.2997_3000del:p.Leu999_Ile1000insTer	coding	Pathogenic/Likely_pathogenic
7	117610529	TTG	T	T117610532A	CFTR	NM_000492.3(CFTR):c.3002_3003delTG	coding	Pathogenic
7	117610538	GAGCTATAGC	G	C117610541T	CFTR	NM_000492.3(CFTR):c.3011_3019del:p.Ala1004_Ala1006del	coding	Pathogenic
7	117610540	GC	G	C117610541T	CFTR	NM_000492.4(CFTR):c.3011del:p.Ala1004fs	coding	Pathogenic
7	117610543	A	AT	A117610545T	CFTR	NM_000492.4(CFTR):c.3014dup:p.Ala1006fs	coding	Pathogenic/Likely_pathogenic
7	117610551	TG	T	G117610552T	CFTR	NM_000492.3(CFTR):c.3022del:p.Val1008fs	coding	Pathogenic/Likely_pathogenic
7	117610566	A	AC	T117610570C	CFTR	NM_000492.3(CFTR):c.3039dup:p.Tyr1014fs	coding	Pathogenic
7	117610566	AC	A	C117610569T	CFTR	NM_000492.3(CFTR):c.3039del:p.Tyr1014fs	coding	Pathogenic
7	117610592	CAGTGATAGTGGCTTTTATTATGTTGAGAGCATATTTCCTCCAAACCTCACAGCA	C	G117610594C	CFTR	NM_000492.3(CFTR):c.3064_3117del:p.Val1022_Gln1039del	coding	Pathogenic
7	117610592	CAGTGAT	C	A117610597G	CFTR	NM_000492.3(CFTR):c.3067_3072del:p.Ile1023_Val1024del	coding	Pathogenic/Likely_pathogenic
7	117610597	ATAGTG	A	T117610598G	CFTR	NM_000492.3(CFTR):c.3068_3072del:p.Ile1023fs	coding	Pathogenic
7	117610668	AG	A	G117610670T	CFTR	NM_000492.4(CFTR):c.3139+1del	coding	Pathogenic/Likely_pathogenic
7	117610668	AGG	A	G117610669T	CFTR	NM_000492.3(CFTR):c.3139_3139+1del	coding	Pathogenic
7	117611579	AGGCAGGAGTCCAATTTTCACTCATCTTGTTACAAGCTTAAAAGGACTATGGACACTTCGTGCCTTCGGACGGCAGCCTTACTTTGAAACTCTGTTCCACAAAGCTCTGAATTTACATACTGCCAACTGGTTCTTGTACCTGTCAACACTGCGCTGGTTCCAAATGAGAATAGAAATGATTTTTGTCATCTTCTTCATTGCTGTTACCTTCATTTCCATTTTAACAACAGGTACTATGAACTCATTAACTTTAGCTAAGCATTTAAGTAAAAAATTTTCAATGAATAAAATGCTGCATTCTATAGGTTATCAATTTTTGATATCTTTAGAGTTTAGTAATTAACAAATTTGTTGGTTTATTATTGAACAAGTGATTTCTTTGAATTTCCATTGTTTTATTGTTAAACAAATAATTTCCTTGAAATCGGATATATATATATATATGTATATATATATATATATATATATATATATACATATATATATATAGTATTATCCCTGTTTTCACAGTTTTAAAAACCGATGCACACAGATTGTCAGATAGCAATTCTGTGATTGAAGGGGAAATATGTCACCTCTTCATACTCATATTGGTGAAGGGTCCTAGCTTCAAAATTAATAGATTCCTAAAGAGGGGAAATGAAACATCCGCATTTACACACACACACACACACACACACACAGAGTTCCTCTTGTCGGTAAGTTTTGTTTTTTTTAAATCTCTACTAGATAAAATTTGTTATCTAATTGTGAGTTTTACACAAAGAAAAACTGTCACAGAAAAGAAAGACAGTGTCACATTTTTCAAAAGAAAAAGAAGAAAAGAAAGTGCCATGTTTTTCAAATACAAATGTTCTGGATTGATTTTAGGATCTTTAGTGAAAAACAAAGTATTTCATAATAAGTAAAATAAAAATCTATGTAGGTAAATTTGTTTCTCTAATTTAAGAATTTGAATTTCTGAGTATTTATGATAAGTGTTGAAATAACTTCTTATATGTGACAGTGAATACTGGCAGAGCAAATGCCAAATCAATGCCAAATCTGTAGGATCATTTGATTGTAGGAACAGAATTCTACTCAAACCGAAAGCAGGCATTTGCTGGAGTTACAGAAAGGCCTCATGGAACACCGAGAAGGTGGTGCCATTCGACTCTTAAAGAAGCTGCAACAGGCACAAGAGAGTCAGCTGCAGCTCTTCTTCTTGAGTCTATATCTGTCCTGGGTCCATTCCTTTTTGTGGTTGCTTCATTCCTTTCTCTCTCTGAAGACTGGTTTTTCTGGTCTACCAGGGCTATGCCACATTGACTTTATGTAGTGTCTCCATTCTGGCCTCCTGAATTTACAGGAGAGTTCCTCTGTACAAACTCAAAGTCCTGGAGAGAACAGAAAACAGCTTCCTTTTGGCTCAGGGGTCCAACTGCAGTCTACTCTGCTGCTATGAGGATAGTGGGTTCACCACCTTTGTTGTTCTCTCAGCTAGGGCAGTGGGAAATGACTCTATGAAAGGAATATACATGGGCAGGCAAATGTACTAATCCTCATCAGTACTGTAATTTTAAGCAACTTTAAAAAATTCTTTTAAGTTATTTGAAAATAAGATCAAAGAAGGCTGAATTACATAAATGAAGATTTGTTAACAATTAATTCAAACCAATATAACACATGCTATAACATGGTTGAGTGTGATTGAGTCTTGATTTATTAGGGGCAATAATCAAAACATTTAACAATCATTATAGTACAGAACTTACCAATCAAATCAGATGCTCAGCCGGAGTGGATGTTGGCCACCCAGCTATTATTATCCCTGGCTCAATTGGTCTTCAGCTGTGTTAACTTGCAAACATTAATTAACTATCTAAGCCCCTCATTTTCCTCAAGTGTAAATAGACACAATAATATTACCTATTCCATAGGTGTGGGGTGAATAGTAAATGTAATAATTTGTCCAAAACACTTAGTATAGTGCCTGGTCCATGGTAAATACTAAATAAATGTTATCTGACTTATTATTAAAATTTTATCTTCTCAGCTTAACCTTCAGAACAGTAATATATTGGGGTCTAGATAAATCTTGCCTATATGAAAATAATTTAATACTACATGCAGATATATGCTGTGTATATTATGCCTTCTGTTAGAGGAATTGCAGAAACAAAAATTTCAATTAATAATAAGATGAATTATTTCTCCCAATTGTAGAATCTTTTGACAATTTTATCATGCATTACAGATGTAAGAACTCTTGATTGGGACTTGATAGTCTAACTTTATAATAATTTAAGAACATTCCTCTTAGAGAATTTCTATGGCCATAATACTGAACACATGAATTTTAATTAGCTGTCCTCTTTAGCCCTAAAAAAAAAATTACTGTAATTTAACACTTAAGTGTTGTTCTTCCCAGGTACAGTAATCTTTTTTTTTTTTTTTTTTTTTTTTTGCATAGAGGGTAATCTTTTCTCTTTCCAAATGGCAGAACTGTTAGTTTTCTGACTGTCCGGTGAAATTCTAAGTCCACTTACTTCCCAATAGCATGCAATTAGCAAAGGTCCTCCTTGCAAAGGCACAGAACACACCTAAACATCTTGCAGATGCTGTTTGGACACTCTTCCCCTGCTTTTGGTCTCTTTGTAAAGCAGCTCATCTGGATACAGGATCTCTTTTCCCCATTGCCCATTCTAATATATGTTACCGTTATTACTTATAGAATAATAGTAGAAGAGACAAATATGGTACCTACCCATTACCAACAACACCTCCAATACCAGTAACATTTTTTAAAAAGGGCAACACTTTCCTAATATTCAATCGCTCTTTGATTTAAAATCCTGGTTGAATACTTACTATATGCAGAGCATTATTCTATTAGTAGATGCTGTGATGAACTGAGATTTAAAAATTGTTAAAATTAGCATAAAATTGAAATGTAAATTTAATGTGATATGTGCCCTAGGAGAAGTGTGAATAAAGTCGTTCACAGAAGAGAGAAATAACATGAGGTTCATTTACGTCTTTTGTGCATCTATAGGAGAAGGAGAAGGAAGAGTTGGTATTATCCTGACTTTAGCCATGAATATCATGAGTACATTGCAGTGGGCTGTAAACTCCAGCATAGATGTGGATAGCTT	A	C117611582T	CFTR	NM_000492.3(CFTR):c.3141_3468+1del	noncoding	Pathogenic
7	117611601	CA	C	A117611602T	CFTR	NM_000492.3(CFTR):c.3161del:p.His1054fs	coding	Pathogenic
7	117611624	A	ACTATG	G117611630C	CFTR	NM_000492.3(CFTR):c.3184_3188dupCTATG:p.Trp1063Cysfs	coding	Pathogenic
7	117611632	C	CTTTTAAGCTTAAAAGG	A117611633T	CFTR	NM_000492.4(CFTR):c.3191_3192insTTTTAAGCTTAAAAGG:p.Leu1065fs	coding	Pathogenic
7	117611656	C	CT	A117611659T	CFTR	NM_000492.3(CFTR):c.3217dup:p.Tyr1073fs	coding	Pathogenic
7	117611667	ACT	A	C117611670G	CFTR	NM_000492.4(CFTR):c.3227_3228CT[1]:p.Leu1077fs	coding	Pathogenic
7	117611670	CTG	C	G117611672T	CFTR	NM_000492.4(CFTR):c.3231_3232del:p.Phe1078fs	coding	Pathogenic
7	117611702	C	CA	C117611705A	CFTR	NM_000492.3(CFTR):c.3263dup:p.Asn1088fs	coding	Pathogenic
7	117611704	AC	A	C117611705T	CFTR	NM_000492.3(CFTR):c.3264del:p.Trp1089fs	coding	Pathogenic
7	117611722	CAACACTGCGCTGGTTCCAAATGAGAATAGAAATGATTTTTGTCATCTTCTTCATTGCTGTTACCTTCATTTCCATTTTAACAACAGGTACTATGAACTCATTAACTTTAGCTAAGCATTTAAGTAAAAAATTTTCAATGAATAAAATGCTGCATTCTATAGGTTATCAATTTTTGATATCTTTAGAGTTTAGTAATTAACAAATTTGTTGGTTTATTATTGAACAAGTGATTTCTTTGAATTTCCATTGTTTTATTGTTAAACAAATAATTTCCTTGAAATCGGATATATATATATATATGTATATATATATATATATATATATATATATACATATATATATATAGTATTATCC	TGTTAA	C117611722T	CFTR	NM_000492.4(CFTR):c.3281_3367+268delinsTGTTAA	coding	Pathogenic
7	117611764	TC	T	C117611765A	CFTR	NM_000492.3(CFTR):c.3324del:p.Ile1109fs	coding	Pathogenic/Likely_pathogenic
7	117611783	T	TA	C117611785A	CFTR	NM_000492.4(CFTR):c.3343dup:p.Thr1115fs	coding	Pathogenic
7	117612008	TATATATATATATATGTATATATATATATATATATATATATATATAC	T	T117612022G	CFTR	NM_000492.3(CFTR):c.3367+214_3367+259del	noncoding	Benign
7	117614645	AC	GTA	A117614645G	CFTR	NM_000492.3(CFTR):c.3400_3401delinsGTA:p.Thr1134fs	coding	Pathogenic
7	117614662	CATG	C	T117614664G	CFTR	NM_000492.3(CFTR):c.3419_3421del:p.Met1140del	coding	Pathogenic
7	117614665	G	GAGTA	C117614670A	CFTR	NM_000492.3(CFTR):c.3421_3424dup:p.Thr1142fs	coding	Pathogenic
7	117614714	G	GT	A117614716T	CFTR	NM_000492.3(CFTR):c.3468+2dup	noncoding	Pathogenic
7	117627537	CGA	C	A117627539T	CFTR	NM_000492.3(CFTR):c.3486_3487del:p.Val1163fs	coding	Pathogenic
7	117627542	C	CT	A117627546T	CFTR	NM_000492.3(CFTR):c.3492dup:p.Lys1165Ter	coding	Pathogenic
7	117627579	AC	A	C117627581A	CFTR	NM_000492.3(CFTR):c.3528del:p.Lys1177fs	coding	Pathogenic
7	117627581	CA	C	A117627583G	CFTR	NM_000492.3(CFTR):c.3530del:p.Lys1177fs	coding	Pathogenic
7	117627584	G	GTCAA	C117627589T	CFTR	NM_000492.3(CFTR):c.3532_3535dup:p.Thr1179fs	coding	Pathogenic
7	117627590	CA	C	A117627593C	CFTR	NM_000492.3(CFTR):c.3540del:p.Lys1180fs	coding	Pathogenic
7	117627598	AC	A	C117627599A	CFTR	NM_000492.4(CFTR):c.3546del:p.Pro1181_Tyr1182insTer	coding	Pathogenic
7	117627621	GTT	G	T117627622A	CFTR	NM_000492.4(CFTR):c.3569_3570del:p.Val1190fs	coding	Pathogenic
7	117627651	AA	G	A117627651G	CFTR	NM_000492.4(CFTR):c.3598_3599delinsG:p.Lys1200fs	coding	Pathogenic
7	117627652	AA	G	A117627652G	CFTR	NM_000492.4(CFTR):c.3599_3600delinsG:p.Lys1200fs	coding	Pathogenic
7	117627657	GA	G	A117627658C	CFTR	NM_000492.3(CFTR):c.3605del:p.Asp1202fs	coding	Pathogenic
7	117627670	CAG	C	A117627671G	CFTR	NM_000492.3(CFTR):c.3618_3619del:p.Gly1208fs	coding	Pathogenic
7	117627671	AG	A	G117627676C	CFTR	NM_000492.3(CFTR):c.3623del:p.Gly1208fs	coding	Pathogenic/Likely_pathogenic
7	117627711	AC	A	C117627712A	CFTR	NM_000492.3(CFTR):c.3659delC	coding	Pathogenic
7	117627741	AT	A	T117627744C	CFTR	NM_000492.3(CFTR):c.3691del:p.Ser1231fs	coding	Pathogenic
7	117642461	A	AATCAG	T117642462A	CFTR	NM_000492.4(CFTR):c.3741_3742insATCAG:p.Ser1248fs	coding	Pathogenic
7	117642463	CA	C	A117642464G	CFTR	NM_000492.3(CFTR):c.3744del:p.Lys1250fs	coding	Pathogenic
7	117642464	AG	A	G117642467A	CFTR	NM_000492.3(CFTR):c.3747del:p.Lys1250fs	coding	Pathogenic
7	117642486	G	GC	T117642488C	CFTR	NM_000492.3(CFTR):c.3767dupC:p.Leu1258Phefs	coding	Pathogenic
7	117642487	C	CT	G117642494T	CFTR	NM_000492.3(CFTR):c.3773dupT:p.Leu1258Phefs	coding	Pathogenic
7	117642527	CG	C	G117642528A	CFTR	NM_000492.3(CFTR):c.3808del:p.Asp1270fs	coding	Pathogenic
7	117652845	GTATT	G	A117652851T	CFTR	NM_000492.3(CFTR):c.3883_3886delATTT	coding	Pathogenic
7	117652850	TA	T	A117652851T	CFTR	NM_000492.3(CFTR):c.3883del:p.Ile1295fs	coding	Pathogenic
7	117652851	A	AG	T117652852G	CFTR	NM_000492.4(CFTR):c.3883_3884insG:p.Ile1295fs	coding	Pathogenic
7	117652851	A	AT	C117652858T	CFTR	NM_000492.4(CFTR):c.3889dup:p.Ser1297fs	coding	Pathogenic
7	117652858	C	CT	G117652860T	CFTR	NM_000492.3(CFTR):c.3891dup:p.Gly1298fs	coding	Pathogenic
7	117652865	A	AT	A117652869T	CFTR	NM_000492.3(CFTR):c.3900dup:p.Arg1301Ter	coding	Pathogenic
7	117652870	GA	G	A117652876C	CFTR	NM_000492.3(CFTR):c.3908del:p.Asn1303fs	coding	Pathogenic
7	117664606	AACTCCTGTGTTTATTTTTAGAATGTCAACTGCTTGAGTGTTTTTAACTCTGTGGTATCTGAACTATCTTCTCTAACTGCAGGTTGGGCTCAGATCTGTGATAGAACAGTTTCCTGGGAAGCTTGACTTTGTCCTTGTGGATGGGGGCTGTGTCCTAAGCCATGGCCACAAGCAGTTGATGTGCTTGGCTAGATCTGTTCTCAGTAAGGCGAAGATCTTGCTGCTTGATGAACCCAGTGCTCATTTGGATCCAGTGTGAGTTTCAGATGTTCTGTTACTTAATAGCACAGTGGGAACAGAATCATTATGCCTGCTTCATGGTGACACATATTTCTATTAGGCTGTCATGTCTGCGTGTGGGGGTCTCCCCCAAGATATGAAATAATTGCCCAGTGGAAATGAGCATAAATGCATATTTCCTTGCTAAGAGTCTTGTGTTTTCTTCCGAAGATAGTTTTTAGTTTCATACAAACTCTTCCCCCTTGTCAACACATGATGAAGCTTTTAAATACATGGGCCTAATCTGATCCTTATGATTTGCCTTTGTATCCCATTTATACCATAAGCATGTTTATAGCCCCAAATAAAGAAGTACTGGTGATTCTACATAATGAAAAATGTACTCATTTATTAAAGTTTCTTTGAAATATTTGTCCTGTTTATTTATGGATACTTAGAGTCTACCCCATGGTTGAAAAGCTGATTGTGGCTAACGCTATATCAACATTATGTGAAAAGAACTTAAAGAAATAAGTAATTTAAAGAGATAATAGAACAATAGACATATTATCAAGGTAAATACAGATCATTACTGTTCTGTGATATTATGTGTGGTATTTTCTTTCTTTTCTAGAACATACCAAATAATTAGAAGAACTCTAAAACAAGCATTTGCTGATTGCACAGTAATTCTCTGTGAACACAGGATAGAAGCAATGCTGGAATGCCAACAATTTTTGGTGAGTCTTTATAACTTTACTTAAGATCTCATTGCCCTTGTAATTCTTGATAACAATCTCACATGTGATAGTTCCTGCAAATTGCAACAATGTACAAGTTCTTTTCAAAAATATGTATCATACAGCCATCCAGCTTTACTCAAAATAGCTGCACAAGTTTTTCACTTTGATCTGAGCCATGTGGTGAGGTTGAAATATAGTAAATCTAAAATGGCAGCATATTACTAAGTTATGTTTATAAATAGGATATATATACTTTTTGAGCCCTTTATTTGGGGACCAAGTCATACAAAATACTCTACTGTTTAAGATTTTAAAAAAGGTCCCTGTGATTCTTTCAATAACTAAATGTCCCATGGATGTGGTCTGGGACAGGCCTAGTTGTCTTACAGTCTGATTTATGGTATTAATGACAAAGTTGAGAGGCACATTTCATTTTTCTAGCCATGATTTGGGTTCAGGTAGTACCTTTCTCAACCACCTTCTCACTGTTCTTAAAAAAACTGTCACATGGCCAGGCACAGTGGCTTACATCTGTAATCCCAATACTTTGGGAGGCTGAGGTGGGGGGATT	A	C117664610T	CFTR	NM_000492.4(CFTR):c.3964-78_4242+577del	noncoding	Pathogenic
7	117664685	CAGGTTGGGCTCAGATCTGTGATAGAACAGTTTCCTGGGAAGCTTGACTTTGTCCTTGTGGATGGGGGCTGTGTCCTAAGCCATGGCCACAAGCAGTTGATGTGCTTGGCTAGATCTGTTCTCAGTAAGGCGAAGATCTTGCTGCTTGATGAACCCAGTGCTCATTTGGATCCAGTGTGAGTTTCAGATGTTCTGTTACTTAATAGCACAGTGGGAACAGAATCATTATGCCTGCTTCATGGTGACACATATTTCTATTAGGCTGTCATGTCTGCGTGTGGGGGTCTCCCCCAAGATATGAAATAATTGCCCAGTGGAAATGAGCATAAATGCATATTTCCTTGCTAAGAGTCTTGTGTTTTCTTCCGAAGATAGTTTTTAGTTTCATACAAACTCTTCCCCCTTGTCAACACATGATGAAGCTTTTAAATACATGGGCCTAATCTGATCCTTATGATTTGCCTTTGTATCCCATTTATACCATAAGCATGTTTATAGCCCCAAATAAAGAAGTACTGGTGATTCTACATAATGAAAAATGTACTCATTTATTAAAGTTTCTTTGAAATATTTGTCCTGTTTATTTATGGATACTTAGAGTCTACCCCATGGTTGAAAAGCTGATTGTGGCTAACGCTATATCAACATTATGTGAAAAGAACTTAAAGAAATAAGTAATTTAAAGAGATAATAGAACAATAGACATATTATCAAGGTAAATACAGATCATTACTGTTCTGTGATATTATGTGTGGTATTTTCTTTCTTTTCTAGAACATACCAAATAATTAGAAGAACTCTAAAACAAGCATTTGCTGATTGCACAGTAATTCTCTGTGAACACAGGATAGAAGCAATGCTGGAATGCCAACAATTTTTGGTGAGTCTTTATAACTTTACTTAAGATCTCATTGCCCTTGTAATTCTTGATAACAATCTCACATGTGATAGTTCCTGCAAATTGCAACAATGTACAAGTTCTTTTCAAAAATATGTATCATACAGCCATCCAGCTTTACTCAAAATAGCTGCACAAGTTTTTCACTTTGATCTGAGCCATGTGGTGAGGTTGAAATATAGTAAATCTAAAATGGCAGCATATTACTAAGTTATGTTTATAAATAGGATATATATACTTTTTGAGCCCTTTATTTGGGGACCAAGTCATACAAAATACTCTACTGTTTAAGATTTTAAAAAAGGTCCCTGTGATTCTTTCAATAACTAAATGTCCCATGGATGTGGTCTGGGACAGGCCTAGTTGTCTTACAGTCTGATTTATGGTATTAATGACAAAGTTGAGAGGCACATTTCATTTTTCTAGCCATGATTTGGGTTCAGGTAGTACCTTTCTCAACCACCTTCTCACTGTTCTTAAAAAAACTGTCACATGGCCAGGCACAGTGGCTTACATCTGTAATCCCAATACTTTGGGAGGCTGAGGTGGGGGGATTACTTGAGGCCAGGAATTCAAGACCAGCCCAGGCAACATAGTGAGGCCCCATCTGTCTTTATTAAAACAAAACAAAACTGTCACAGCTTCTTTCAAGTGATGTTTACAAATTCCCTATGGTTTAGTCACAAGGAAGTTCTGAGGATGATGTATCACGTCATTTCTGTTCAGGCTTTTGAGCCTCCTGGAGGTAAATGGTTTCCTTACTGAAGGCTTGTTATTACCATGATTATCACTAAGCTTGAAGTAACAAATTAGGGGGGCAGACTCACAACCTCTTGCCCTGCCATGGACAAGTTCAAGAATCTAAGTAAAGTCCTCTATTGTCTGATCTTGGATTTGCTCAACCTGAACAAGCCAAGGAGGTGTATTAAACTCAGGCACATCCTGACCAATTTGGAATTCTTAAGCTTCAGATCACTGTGGAAGAGGCTCAACTCTTTATGGTGCTGTAGACTTACGCTCATTTTCTAGGTAATTTATAAGGGACCTAATATTTTGTTTTCAAAGCAACTTCAGTTCTACTAAACCTCCCTGAAGAATCTTCCAGCTGCTGAGTAGAAAATCACAACTAATTTCACAGATGGTAGAACCTCCTTAGAGCAAAAGGACACAGCAGTTAAATGTGACATACCTGATTGTTCAAAATGCAAGGCTCTGGACATTGCATTCTTTGACTTTTATTTTCCTTTGAGCCTGTGCCAGTTTCTGTCCCTGCTCTGGTCTGACCTGCCTTCTGTCCCAGATCTCACTAACAGCCATTTCCCTAGGTCATAGAAGAGAACAAAGTGCGGCAGTACGATTCCATCCAGAAACTGCTGAACGAGAGGAGCCTCTTCCGGCAAGCCATCAGCCCCTCCGACAGGGTGAAGCTCTTTCCCCACCGGAACTCAAGCAAGTGCAAGTCTAAGCCCCAGATTGCTGCTCTGAAAGAGGAGACAGAAGAAGAGGTGCAAGATACAAGGCTTT	C	G117664688A	CFTR	NC_000007.13:g.117304742_117307162del	noncoding	Pathogenic
7	117664686	AGGTTGGGCTCAGATCTGTGATAGAACAGTTTCCTGGGAAGCTTGACTTTGTCCTTGTGGATGGGGGCTGTGTCCTAAGCCATGGCCACAAGCAGTTGATGTGCTTGGCTAGATCTGTTCTCAGTAAGGCGAAGATCTTGCTGCTTGATGAACCCAGTGCTCATTTGGATCCAGTGTGAGTTTCAGATGTTCTGTTACTTAATAGCACAGTGGGAACAGAATCATTATGCCTGCTTCATGGTGACACATATTTCTATTAGGCTGTCATGTCTGCGTGTGGGGGTCTCCCCCAAGATATGAAATAATTGCCCAGTGGAAATGAGCATAAATGCATATTTCCTTGCTAAGAGTCTTGTGTTTTCTTCCGAAGATAGTTTTTAGTTTCATACAAACTCTTCCCCCTTGTCAACACATGATGAAGCTTTTAAATACATGGGCCTAATCTGATCCTTATGATTTGCCTTTGTATCCCATTTATACCATAAGCATGTTTATAGCCCCAAATAAAGAAGTACTGGTGATTCTACATAATGAAAAATGTACTCATTTATTAAAGTTTCTTTGAAATATTTGTCCTGTTTATTTATGGATACTTAGAGTCTACCCCATGGTTGAAAAGCTGATTGTGGCTAACGCTATATCAACATTATGTGAAAAGAACTTAAAGAAATAAGTAATTTAAAGAGATAATAGAACAATAGACATATTATCAAGGTAAATACAGATCATTACTGTTCTGTGATATTATGTGTGGTATTTTCTTTCTTTTCTAGAACATACCAAATAATTAGAAGAACTCTAAAACAAGCATTTGCTGATTGCACAGTAATTCTCTGTGAACACAGGATAGAAGCAATGCTGGAATGCCAACAATTTTT	A	T117664690G	CFTR	NM_000492.4(CFTR):c.3966_4242+2del	noncoding	Pathogenic
7	117664695	TC	T	C117664696A	CFTR	NM_000492.4(CFTR):c.3972del:p.Arg1325fs	coding	Pathogenic
7	117664720	TG	T	G117664723A	CFTR	NM_000492.3(CFTR):c.3999del:p.Lys1334fs	coding	Pathogenic
7	117664747	TG	T	G117664752C	CFTR	NM_000492.4(CFTR):c.4028del:p.Gly1343fs	coding	Pathogenic
7	117664758	TCCTAAGC	T	C117664760A	CFTR	NM_000492.3(CFTR):c.4036_4042del:p.Leu1346fs	coding	Pathogenic
7	117664780	GT	G	T117664782G	CFTR	NM_000492.3(CFTR):c.4058del:p.Gln1352_Leu1353insTer	coding	Pathogenic
7	117664794	CT	C	T117664795A	CFTR	NM_000492.4(CFTR):c.4071del:p.Arg1358fs	coding	Pathogenic
7	117664801	TGTT	AA	T117664801A	CFTR	NM_000492.3(CFTR):c.4077_4080delinsAA:p.Val1360fs	coding	Pathogenic
7	117664809	G	GT	A117664811T	CFTR	NM_000492.3(CFTR):c.4086dup:p.Lys1363Ter	coding	Pathogenic
7	117664849	TTTGGA	T	T117664851C	CFTR	NM_000492.3(CFTR):c.4127_4131del:p.Leu1376fs	coding	Pathogenic
7	117665466	C	CA	T117665470A	CFTR	NM_000492.3(CFTR):c.4147dupA:p.Ile1383Asnfs	coding	Pathogenic
7	117665515	TTC	T	C117665519G	CFTR	NM_000492.3(CFTR):c.4197_4198delCT	coding	Pathogenic
7	117665519	CTG	C	T117665522A	CFTR	NM_000492.3(CFTR):c.4200_4201delTG	coding	Pathogenic
7	117666914	GA	G	A117666916G	CFTR	NM_000492.3(CFTR):c.4251del:p.Glu1418fs	coding	Pathogenic
7	117666961	C	CGA	G117666967A	CFTR	NM_000492.3(CFTR):c.4300_4301dupAG	coding	Pathogenic
7	117666967	G	GA	G117666969A	CFTR	NM_000492.4(CFTR):c.4303dup:p.Ser1435fs	coding	Pathogenic
7	117667232	G	GT	A117667242T	CFTR	NM_000492.4(CFTR):c.*133dup	noncoding	Benign
7	120806696	C	CA	T120806705A	TSPAN12	NM_012338.4(TSPAN12):c.469-12dup	noncoding	Benign/Likely_benign
7	120810570	CCTGGT	C	C120810571G	TSPAN12	NM_012338.4(TSPAN12):c.361-5_361-1del	coding	Pathogenic
7	120810578	TAAAAAGC	T	A120810583T	TSPAN12	NM_012338.4(TSPAN12):c.361-15_361-9del	noncoding	Benign
7	120838843	G	GAAACAGC	T120838860A	TSPAN12	NM_012338.4(TSPAN12):c.205_211GCTGTTT[3]:p.Phe73fs	coding	Pathogenic
7	120840075	CA	C	A120840077G	TSPAN12	NM_012338.4(TSPAN12):c.100del:p.Trp34fs	coding	Pathogenic
7	122077833	CTTAC	AA	C122077833A	AASS	NM_005763.4(AASS):c.2662+1_2662+5delinsTT	noncoding	Pathogenic
7	122098495	TCTTGTTTAC	T	C122098496A	AASS	NM_005763.4(AASS):c.1601_1609del:p.Cys534_Glu537delinsTer	coding	Pathogenic
7	122098872	TA	T	A122098896G	AASS	NM_005763.4(AASS):c.1407-7del	noncoding	Benign
7	122098872	T	TAAAAAAA	G122098897A	AASS	NM_005763.4(AASS):c.1407-30_1407-24dup	noncoding	Benign
7	122115139	CTG	C	T122115140A	AASS	NM_005763.4(AASS):c.976_977del:p.Gln326fs	coding	Pathogenic
7	122303784	GA	G	A122303787G	FEZF1	NM_001024613.4(FEZF1):c.653del:p.Phe218fs	coding	Pathogenic
7	124841036	CT	C	T124841037G	POT1	NM_015450.3(POT1):c.1305del:p.Val436fs	coding	Pathogenic
7	124858948	AT	CA	A124858948C	POT1	NM_015450.3(POT1):c.702+8_702+9delinsTG	noncoding	Benign/Likely_benign
7	124870984	AG	TTTAAACTAAAGAAACTTCATAGTTTC	A124870984T	POT1	NM_015450.3(POT1):c.181_182delinsGAAACTATGAAGTTTCTTTAGTTTAAA:p.Leu61delinsGluThrMetLysPheLeuTer	coding	Pathogenic
7	127610586	C	CACAT	G127610587A	PAX4	NM_001366110.1(PAX4):c.*477_*478insATGT	noncoding	Benign
7	127610587	G	GCATA	A127610596C	PAX4	NM_001366110.1(PAX4):c.*469_*472TATG[3]	noncoding	Benign
7	127652379	G	GTCCTCCGCGCAGAGCGGCGGC	G127652408C	SND1	NM_014390.4(SND1):c.14_34dup:p.Ala5_Ser11dup	coding	Benign
7	128335924	ATCT	A	T128335930A	RBM28	NM_018077.3(RBM28):c.726_728AGA[1]:p.Glu243del	coding	Benign
7	128338248	AC	A	C128338250T	RBM28	NM_018077.3(RBM28):c.541+1del	noncoding	Pathogenic
7	128830784	C	TCT	C128830784T	FLNC	NM_001127487.2(FLNC):c.147delinsTCT:p.Lys51fs	coding	Pathogenic
7	128837468	TC	T	C128837472A	FLNC	NM_001458.4(FLNC):c.774del:p.Lys259fs	coding	Pathogenic
7	128840126	CAGCGGGG	C	G128840130T	FLNC	NM_001458.4(FLNC):c.1519_1525del:p.Gly507fs	coding	Pathogenic
7	128841198	C	CA	G128841201A	FLNC	NM_001458.4(FLNC):c.1844dup:p.Ile616fs	coding	Pathogenic
7	128841215	A	ACAAGGGGGATGGCTCCTGCGATGTG	G128841242A	FLNC	NM_001458.4(FLNC):c.1861_1885dup:p.Arg629fs	coding	Pathogenic
7	128841529	CG	C	G128841530T	FLNC	NM_001458.5(FLNC):c.2084del:p.Arg695fs	coding	Pathogenic
7	128842339	TG	T	G128842343A	FLNC	NM_001458.5(FLNC):c.2234del:p.Gly745fs	coding	Pathogenic
7	128842781	CGCTTCTCTGCAGGCGACGTGAGCATCG	C	T128842784A	FLNC	NM_001458.4(FLNC):c.2390-10_2406del	noncoding	Pathogenic
7	128842833	TG	T	G128842836C	FLNC	NM_001458.5(FLNC):c.2432del:p.Gly811fs	coding	Pathogenic
7	128842909	AC	A	C128842911A	FLNC	NM_001458.4(FLNC):c.2507del:p.Pro836fs	coding	Pathogenic
7	128842911	CA	C	A128842912G	FLNC	NM_001458.5(FLNC):c.2508del:p.Ala838fs	coding	Pathogenic
7	128843281	GC	T	G128843281T	FLNC	NM_001458.5(FLNC):c.2603_2604delinsT:p.Ser868fs	coding	Pathogenic
7	128843553	TGTCAAGTACACC	T	T128843555C	FLNC	NM_001458.4(FLNC):c.2789_2800del:p.Val930_Thr933del	coding	Pathogenic
7	128843854	TG	T	G128843856T	FLNC	NM_001458.5(FLNC):c.2872del:p.Val957_Val958insTer	coding	Pathogenic
7	128844253	CT	C	T128844254G	FLNC	NM_001458.4(FLNC):c.3180del:p.Asp1061fs	coding	Pathogenic/Likely_pathogenic
7	128844877	GC	G	C128844880A	FLNC	NM_001458.4(FLNC):c.3415del:p.His1139fs	coding	Pathogenic
7	128845134	C	CTA	C128845137T	FLNC	NM_001458.5(FLNC):c.3670_3671dup:p.Ile1226fs	coding	Pathogenic
7	128845163	AT	A	T128845164C	FLNC	NM_001458.4(FLNC):c.3699del:p.Val1235fs	coding	Pathogenic
7	128845988	AG	A	G128845990T	FLNC	NC_000007.14:g.128845989del	noncoding	Pathogenic
7	128846051	CG	C	G128846053C	FLNC	NM_001458.4(FLNC):c.3854del:p.Gly1285fs	coding	Pathogenic
7	128846129	C	CACCT	G128846137T	FLNC	NM_001458.4(FLNC):c.3934_3937dup:p.Arg1313fs	coding	Pathogenic
7	128846130	ACCTAC	A	C128846132G	FLNC	NM_001458.4(FLNC):c.3933_3937del:p.Tyr1312fs	coding	Pathogenic
7	128847738	GGGAA	G	A128847741T	FLNC	NM_001458.4(FLNC):c.4333_4336del:p.Gly1444_Lys1445insTer	coding	Pathogenic
7	128848692	AG	A	G128848696T	FLNC	NM_001458.4(FLNC):c.4716del:p.Leu1573fs	coding	Pathogenic
7	128848722	GTC	G	C128848726G	FLNC	NM_001458.4(FLNC):c.4737+9_4737+10del	noncoding	Benign
7	128848974	T	TCGTCACAA	G128848982A	FLNC	NM_001458.4(FLNC):c.4926_4927insACGTCACA:p.Val1643fs	coding	Pathogenic
7	128849539	CG	C	G128849544T	FLNC	NM_001458.4(FLNC):c.5165del:p.Gly1722fs	coding	Pathogenic
7	128850869	TCACGGTGAGGTATG	T	G128850873C	FLNC	NM_001458.4(FLNC):c.5469_5482del:p.Val1824fs	coding	Pathogenic
7	128851453	AG	A	G128851458T	FLNC	NM_001458.4(FLNC):c.5672delG	noncoding	Pathogenic
7	128851457	GGTCT	G	T128851461A	FLNC	NM_001458.4(FLNC):c.5675_5678del:p.Leu1892fs	coding	Pathogenic
7	128851482	C	CA	T128851484A	FLNC	NM_001458.4(FLNC):c.5697dup:p.Ser1900fs	coding	Pathogenic
7	128851488	AG	A	G128851490C	FLNC	NM_001458.4(FLNC):c.5704del:p.Ala1902fs	coding	Pathogenic
7	128851549	TG	CA	T128851549C	FLNC	NM_001458.4(FLNC):c.5763_5764inv:p.Ala1922Thr	coding	Benign
7	128852651	A	AG	A128852653G	FLNC	NM_001458.4(FLNC):c.5904dup:p.Ile1969fs	coding	Pathogenic
7	128852730	GC	G	C128852731G	FLNC	NM_001458.5(FLNC):c.5983del:p.Arg1995fs	coding	Pathogenic
7	128853012	C	CG	T128853014G	FLNC	NM_001458.4(FLNC):c.6190dup:p.Val2064fs	coding	Pathogenic
7	128853499	G	GC	A128853503C	FLNC	NM_001458.4(FLNC):c.6242dup:p.Ser2082fs	coding	Pathogenic
7	128853602	TGCTGACAA	T	T128853605A	FLNC	NM_001458.5(FLNC):c.6345_6352del:p.Asp2116fs	coding	Pathogenic
7	128853798	AC	A	C128853800A	FLNC	NM_001458.4(FLNC):c.6447del:p.Ile2150fs	coding	Pathogenic
7	128854437	C	CT	G128854439T	FLNC	NM_001458.4(FLNC):c.6753dup:p.Ala2252fs	coding	Pathogenic
7	128856598	GCA	G	A128856604C	FLNC	NM_001127487.2(FLNC):c.7235_7236AC[2]:p.Pro2414fs	coding	Pathogenic
7	128856636	CT	C	T128856637G	FLNC	NM_001458.4(FLNC):c.7371del:p.Glu2458fs	coding	Pathogenic
7	128856856	A	ATGCT	G128856857T	FLNC	NM_001458.4(FLNC):c.7496_7497insTGCT:p.Gln2499fs	coding	Pathogenic
7	128856886	CA	AG	C128856886A	FLNC	NM_001458.5(FLNC):c.7526_7527delinsAG:p.Ser2509Ter	coding	Pathogenic
7	128856894	GGTCCTGGGCTCGA	G	T128856896G	FLNC	NM_001458.4(FLNC):c.7536_7548del:p.Pro2513fs	coding	Pathogenic
7	128857103	ACCTCTGGCCCCCAGGTGTGTCATCAGAGTTCATCGTGAACACCCTGAATGCCGGCTCGGGGGCCTTGTCTGTCACCATTGATGGCCCCTC	GAGG	A128857103G	FLNC	NM_001458.5(FLNC):c.7562-15_7637delinsGAGG	noncoding	Pathogenic
7	128857126	TC	T	C128857127A	FLNC	NM_001458.5(FLNC):c.7571del:p.Ser2523_Ser2524insTer	coding	Pathogenic
7	128857213	CG	C	G128857216A	FLNC	NM_001458.4(FLNC):c.7660del:p.Glu2554fs	coding	Pathogenic
7	128857313	GC	A	G128857313A	FLNC	NM_001458.5(FLNC):c.7757_7758delinsA:p.Ser2586fs	coding	Pathogenic
7	128947297	CACTCTGCAGCCGCCCACTCTGCGGCCGCCT	C	G128947320A	IRF5	NM_001098629.3(IRF5):c.572_601del:p.Arg191_Leu200del	coding	Benign
7	128957255	CT	C	T128957256A	TNPO3	NM_012470.3(TNPO3):c.2771del:p.Ter924CysextTer?	coding	Pathogenic
7	128972591	GA	G	A128972594G	TNPO3	NM_012470.3(TNPO3):c.2274-10del	noncoding	Benign/Likely_benign
7	129015380	A	AT	G129015381T	TNPO3	NM_012470.3(TNPO3):c.396-246_396-245insA	noncoding	Benign
7	129189198	G	GGCT	G129189221C	SMO	NM_005631.5(SMO):c.49_51CTG[8]:p.Leu23dup	coding	Benign
7	129212377	CAG	C	A129212378G	SMO	NM_005631.5(SMO):c.2291_2292del:p.Gln764fs	coding	Pathogenic
7	130395364	G	GA	G130395373A	CEP41	NM_018718.3(CEP41):c.*3526dup	noncoding	Benign
7	130401961	GA	G	A130401966G	CEP41	NM_018718.3(CEP41):c.575-14del	noncoding	Benign
7	131556280	GAC	G	A131556281G	PODXL	NM_001018111.3(PODXL):c.78_79del:p.Ser27fs	coding	Benign
7	131556283	GGCGA	G	G131556284C	PODXL	NM_001018111.3(PODXL):c.73_76del:p.Ser25fs	coding	Benign
7	134661566	AC	A	C134661568G	BPGM	NM_001724.5(BPGM):c.61del:p.Arg21fs	coding	Pathogenic
7	138715597	CAGCCAGACCCACAGAAAAGGCACCTGTGCCTGGGAAAGAAGAGTCATTCTTTTGGCAAACATCCACAAATAGCTCGGAGAAGTCACCTTTACTTCCAAATACATGGCACCTATTTCCTGGGGTGTTGGGGAGAGCTGACTGTCCCCCCGATGGGCTGCTCACTCACGTGCATGAGCCAGGCTGAGGGCCCAGAGCCGCAGGTAGGAGGCTGTGTTTGAAATGCAGCCCAGGCAGTACTCGATGGTGTGGATGGCTTGGTGGACAAAGACGTCTCCAAAGTTGAACTGAAAGACGGAATTGTTTATTTTACTTCATTGAGAATTTTCTACACAAAAGTTATTCCAA	C	G138715599T	ATP6V0A4	NM_020632.3(ATP6V0A4):c.2140-61_2257+166del	noncoding	Pathogenic
7	138721898	TC	T	C138721899T	ATP6V0A4	NM_020632.3(ATP6V0A4):c.2137del:p.Glu713fs	coding	Pathogenic
7	138728783	C	CT	A138728785T	ATP6V0A4	NM_020632.3(ATP6V0A4):c.1987dup:p.Arg663fs	coding	Pathogenic
7	138749165	AC	A	C138749167T	ATP6V0A4	NM_020632.3(ATP6V0A4):c.1180+1del	noncoding	Pathogenic
7	138749321	GAA	G	A138749334G	ATP6V0A4	NM_020632.3(ATP6V0A4):c.1030-6_1030-5del	noncoding	Benign
7	138749321	GA	G	A138749335G	ATP6V0A4	NM_020632.3(ATP6V0A4):c.1030-5del	noncoding	Benign
7	138752646	CTT	C	T138752647G	ATP6V0A4	NM_020632.3(ATP6V0A4):c.1006_1007del:p.Lys336fs	coding	Pathogenic
7	138755727	AC	A	C138755728A	ATP6V0A4	NM_020632.3(ATP6V0A4):c.777del:p.Met259fs	coding	Pathogenic
7	138762943	GTCAGT	G	A138762946T	ATP6V0A4	NM_020632.3(ATP6V0A4):c.369_373del:p.Glu123fs	coding	Pathogenic
7	138771142	GA	G	A138771144C	ATP6V0A4	NM_020632.3(ATP6V0A4):c.105del:p.Gln36fs	coding	Pathogenic
7	138894380	GA	G	A138894383G	KIAA1549	NM_001164665.2(KIAA1549):c.3993del:p.Gln1332fs	coding	Pathogenic/Likely_pathogenic
7	138981217	CG	C	G138981221C	KIAA1549	NM_001164665.2(KIAA1549):c.52del:p.Arg18fs	coding	Pathogenic
7	139074035	GA	G	A139074036G	ZC3HAV1	NM_020119.4(ZC3HAV1):c.1698-6del	noncoding	Benign
7	140017722	CG	C	G140017726C	TBXAS1	NM_030984.5(TBXAS1):c.1364+1866del	coding	Pathogenic
7	140734768	AATCTAC	A	T140734770A	BRAF	NM_001374258.1(BRAF):c.2248-4_2249del	coding	Pathogenic
7	140734774	CA	C	A140734785G	BRAF	NM_004333.6(BRAF):c.2128-5del	noncoding	Benign/Likely_benign
7	140734776	AAAAAAAAAAG	A	G140734786A	BRAF	NM_001374258.1(BRAF):c.2248-16_2248-7del	noncoding	Benign
7	140734785	AG	A	G140734786A	BRAF	NM_001374258.1(BRAF):c.2248-16del	noncoding	Benign
7	140734786	G	GA	G140734797A	BRAF	NM_001374258.1(BRAF):c.2248-26dup	noncoding	Benign
7	140734787	AAAAAAAAAAG	A	A140734804G	BRAF	NM_001374258.1(BRAF):c.2248-27_2248-18del	noncoding	Benign
7	140753335	CA	AT	C140753335A	BRAF	NM_004333.6(BRAF):c.1799_1800delinsAT:p.Val600Asp	coding	Pathogenic
7	140753336	AC	CT	A140753336C	BRAF	NM_004333.6(BRAF):c.1798_1799delinsAG:p.Val600Arg	coding	Pathogenic
7	140753338	T	TGTA	C140753343T	BRAF	NM_004333.6(BRAF):c.1794_1796dup:p.Thr599dup	coding	Pathogenic
7	140753345	AG	GA	A140753345G	BRAF	NM_004333.6(BRAF):c.1789_1790delinsTC:p.Leu597Ser	coding	Pathogenic
7	140753355	CA	TC	C140753355T	BRAF	NM_004333.6(BRAF):c.1779_1780delinsGA:p.Asp594Asn	coding	Pathogenic
7	140781597	CTGT	C	G140781599C	BRAF	NM_004333.6(BRAF):c.1408_1410del:p.Thr470del	coding	Pathogenic
7	140781600	TTCC	T	T140781601A	BRAF	NM_004333.6(BRAF):c.1405_1407del:p.Gly469del	coding	Pathogenic
7	140781602	CC	AA	C140781602A	BRAF	NM_004333.6(BRAF):c.1405_1406delinsTT:p.Gly469Leu	coding	Pathogenic
7	141708977	CAAAG	C	A141708982T	WEE2	NM_001105558.1(WEE2):c.220_223AAAG[1]:p.Glu75fs	coding	Pathogenic
7	141727383	G	GA	C141727389A	WEE2	NM_001105558.1(WEE2):c.1477dup:p.Thr493fs	coding	Pathogenic
7	142749451	GTCC	G	T142749455A	PRSS1	NM_002769.4(PRSS1):c.-30_-28delTCC	noncoding	Benign
7	142749557	AC	A	C142749564G	PRSS1	NM_002769.5(PRSS1):c.40+40del	noncoding	Benign
7	142751938	GC	AT	G142751938A	PRSS1	NM_002769.5(PRSS1):c.365_366delinsAT:p.Arg122His	coding	Pathogenic
7	142875807	CCT	C	C142875808G	TRPV6	NM_018646.6(TRPV6):c.978_979del:p.Gly327_Asp328insTer	coding	Pathogenic
7	142877215	G	GGCAA	G142877223A	TRPV6	NM_018646.6(TRPV6):c.530_533dup:p.Arg179fs	coding	Pathogenic
7	143316329	TG	T	G143316334C	CLCN1	NM_000083.3(CLCN1):c.122del:p.Gly41fs	coding	Pathogenic
7	143320773	C	GGA	C143320773G	CLCN1	NM_000083.3(CLCN1):c.411delinsGGA:p.Tyr137Ter	coding	Pathogenic/Likely_pathogenic
7	143321398	GC	G	C143321400T	CLCN1	NM_000083.3(CLCN1):c.469del:p.Leu157fs	coding	Pathogenic
7	143321405	TC	T	C143321406T	CLCN1	NM_000083.3(CLCN1):c.475del:p.Leu159fs	coding	Pathogenic
7	143323307	AG	A	G143323310C	CLCN1	NM_000083.2(CLCN1):c.698delG:p.Gly233Alafs	noncoding	Pathogenic/Likely_pathogenic
7	143323362	GT	G	T143323363C	CLCN1	NM_000083.3(CLCN1):c.751del:p.Ser251fs	coding	Pathogenic
7	143324427	AC	A	C143324428T	CLCN1	NM_000083.3(CLCN1):c.789del:p.Ser264fs	coding	Pathogenic
7	143324468	T	TG	T143324470G	CLCN1	NM_000083.3(CLCN1):c.830dup:p.Cys277fs	coding	Pathogenic
7	143330816	CGG	TGA	C143330816T	CLCN1	NM_000083.3(CLCN1):c.898_900delinsTGA:p.Arg300Ter	coding	Pathogenic
7	143330816	CG	TA	C143330816T	CLCN1	NM_000083.3(CLCN1):c.898_899delinsTA:p.Arg300Ter	coding	Pathogenic
7	143332729	G	GC	G143332734C	CLCN1	NM_000083.3(CLCN1):c.1261dup:p.Arg421fs	coding	Pathogenic
7	143332749	CTTTG	C	T143332754A	CLCN1	NM_000083.3(CLCN1):c.1278_1281TTTG[1]:p.Phe428fs	coding	Pathogenic
7	143332824	A	AC	G143332830C	CLCN1	NM_000083.3(CLCN1):c.1357dup:p.Arg453fs	coding	Pathogenic
7	143332824	AC	A	C143332829G	CLCN1	NM_000083.3(CLCN1):c.1357del:p.Arg453fs	coding	Pathogenic
7	143339286	ATACCCTGCGGAGGC	A	A143339288T	CLCN1	NM_000083.3(CLCN1):c.1437_1450del:p.Pro480fs	coding	Pathogenic
7	143341957	CCA	C	C143341962G	CLCN1	NM_000083.3(CLCN1):c.1612_1613CA[2]:p.Thr539fs	coding	Pathogenic/Likely_pathogenic
7	143341989	AAT	A	A143341990T	CLCN1	NM_000083.3(CLCN1):c.1644_1645del:p.Glu548fs	coding	Pathogenic
7	143342446	AG	A	G143342447T	CLCN1	NM_000083.3(CLCN1):c.1872del:p.Glu624fs	coding	Pathogenic
7	143342491	TG	T	G143342493T	CLCN1	NM_000083.3(CLCN1):c.1918del:p.Val640fs	coding	Pathogenic
7	143345554	CG	C	G143345556A	CLCN1	NM_000083.3(CLCN1):c.1966del:p.Glu656fs	coding	Pathogenic/Likely_pathogenic
7	143345602	TGC	T	G143345607A	CLCN1	NM_000083.3(CLCN1):c.2013_2014GC[2]:p.Ala673fs	coding	Pathogenic/Likely_pathogenic
7	143345610	GC	G	C143345613A	CLCN1	NM_000083.3(CLCN1):c.2023del:p.Gln675fs	coding	Pathogenic
7	143346179	CCT	C	C143346182G	CLCN1	NM_000083.3(CLCN1):c.2215_2216del:p.Leu739fs	coding	Pathogenic
7	143346621	TG	T	G143346624C	CLCN1	NM_000083.3(CLCN1):c.2330del:p.Gly777fs	coding	Pathogenic
7	143350571	C	CCTCA	A143350572C	CLCN1	NM_000083.3(CLCN1):c.2512_2513insCTCA:p.His838fs	coding	Pathogenic
7	143350576	CCT	C	C143350577G	CLCN1	NM_000083.3(CLCN1):c.2518_2519del:p.Leu840fs	coding	Pathogenic
7	143351760	ATG	A	T143351763A	CLCN1	NM_000083.3(CLCN1):c.2763_2764TG[1]:p.Val922fs	coding	Pathogenic
7	143351783	AC	A	C143351787T	CLCN1	NM_000083.3(CLCN1):c.2789del:p.Pro930fs	coding	Pathogenic
7	143351825	G	GC	A143351830C	CLCN1	NM_000083.3(CLCN1):c.2831dup:p.Gly945fs	coding	Pathogenic/Likely_pathogenic
7	144050729	ACT	A	C144050730G	OR2A5	NM_012365.1(OR2A5):c.329_330del:p.Thr110fs	coding	Benign
7	144399096	TG	T	G144399103T	NOBOX	NM_001080413.3(NOBOX):c.1322del:p.Pro441fs	coding	Pathogenic
7	144400181	C	CCA	C144400185A	NOBOX	NM_001080413.3(NOBOX):c.974_975dup:p.Ala326fs	coding	Pathogenic
7	144591518	TA	T	A144591520T	TPK1	NM_022445.4(TPK1):c.405del:p.Met136fs	coding	Pathogenic
7	144623208	GC	G	C144623209A	TPK1	NM_022445.4(TPK1):c.311del:p.Cys104fs	coding	Pathogenic
7	146774249	CCTCT	C	C146774252G	CNTNAP2	NM_014141.6(CNTNAP2):c.98-19_98-16del	noncoding	Benign
7	147043984	C	CA	T147043986A	CNTNAP2	NM_014141.6(CNTNAP2):c.481dup:p.Ile161fs	coding	Pathogenic
7	147108136	T	TG	T147108137G	CNTNAP2	NM_014141.6(CNTNAP2):c.551-11_551-10insG	noncoding	Benign
7	147108230	AT	A	T147108232G	CNTNAP2	NM_014141.6(CNTNAP2):c.636del:p.Ile212fs	coding	Pathogenic
7	147121074	CA	C	A147121075G	CNTNAP2	NM_014141.6(CNTNAP2):c.851del:p.Gln284fs	coding	Pathogenic
7	147132131	GC	G	C147132132T	CNTNAP2	NM_014141.6(CNTNAP2):c.1084-113del	noncoding	Benign
7	147300406	A	AAAAC	T147300415A	CNTNAP2	NM_014141.6(CNTNAP2):c.1498+117AAAC[3]	noncoding	Benign
7	147485950	CTG	C	T147485953A	CNTNAP2	NM_014141.6(CNTNAP2):c.1687_1688TG[1]:p.Cys563_Glu564delinsTer	coding	Pathogenic
7	147639181	ACTCAGTGACACAG	A	A147639185G	CNTNAP2	NM_014141.6(CNTNAP2):c.1977_1989del:p.Val660fs	coding	Pathogenic
7	147903682	CCAAGTACTACT	C	C147903683G	CNTNAP2	NM_014141.6(CNTNAP2):c.2217_2227del:p.Pro739_Lys740insTer	coding	Pathogenic
7	148118230	CT	C	T148118231G	CNTNAP2	NM_014141.6(CNTNAP2):c.2497del:p.Trp833fs	coding	Pathogenic
7	148147770	CA	C	A148147785T	CNTNAP2	NM_014141.6(CNTNAP2):c.2773+76del	noncoding	Benign
7	148172430	TC	T	C148172432T	CNTNAP2	NM_014141.6(CNTNAP2):c.2964del:p.Cys989fs	coding	Pathogenic
7	148383652	CAG	C	A148383653G	CNTNAP2	NM_014141.6(CNTNAP2):c.3480_3481del:p.Gly1161fs	coding	Pathogenic
7	148383727	A	AC	A148383730C	CNTNAP2	NM_014141.6(CNTNAP2):c.3556dup:p.Gln1186fs	coding	Pathogenic
7	148383758	GCAGA	G	G148383761A	CNTNAP2	NM_014141.6(CNTNAP2):c.3588_3591del:p.Asn1198fs	coding	Pathogenic
7	148383880	TG	T	G148383882A	CNTNAP2	NM_014141.6(CNTNAP2):c.3709del:p.Asp1237fs	coding	Pathogenic
7	148409383	C	CTT	C148409385T	CNTNAP2	NM_014141.6(CNTNAP2):c.3716-7_3716-6insTT	noncoding	Benign
7	148409385	C	CTG	A148409387G	CNTNAP2	NM_014141.6(CNTNAP2):c.3716-5_3716-4insGT	noncoding	Benign
7	148409385	C	TTCTG	C148409385T	CNTNAP2	NM_014141.6(CNTNAP2):c.3716-6delinsTTCTG	noncoding	Benign
7	148415780	C	CA	C148415792A	CNTNAP2	NM_014141.6(CNTNAP2):c.*175dup	noncoding	Benign
7	148416215	C	CCTGA	T148416224C	CNTNAP2	NM_014141.6(CNTNAP2):c.*600_*603CTGA[3]	noncoding	Benign
7	148416531	ATAGTT	A	T148416537A	CNTNAP2	NM_014141.6(CNTNAP2):c.*916_*920TAGTT[1]	noncoding	Benign
7	148416790	ATCTT	A	T148416795C	CNTNAP2	NM_014141.6(CNTNAP2):c.*1175_*1178TCTT[1]	noncoding	Benign
7	148418546	GAA	G	A148418551G	CNTNAP2	NM_014141.6(CNTNAP2):c.*2935_*2936del	noncoding	Benign
7	148419600	A	AT	G148419616T	CNTNAP2	NM_014141.6(CNTNAP2):c.*3999dup	noncoding	Benign
7	148807624	AG	A	G148807630A	EZH2	NM_004456.4(EZH2):c.*21del	noncoding	Benign
7	148809078	C	CA	C148809085A	EZH2	NM_004456.4(EZH2):c.2187dup:p.Asp730Ter	coding	Pathogenic
7	148810442	C	CT	G148810447T	EZH2	NM_004456.4(EZH2):c.1948-32dup	noncoding	Benign
7	148829855	G	GA	T148829863A	EZH2	NM_004456.5(EZH2):c.364-14dup	noncoding	Benign
7	148832759	G	GA	T148832766A	EZH2	NM_004456.5(EZH2):c.247-15dup	noncoding	Benign/Likely_benign
7	148846601	TAA	T	A148846611T	EZH2	NM_004456.5(EZH2):c.118-5_118-4del	noncoding	Benign/Likely_benign
7	150945521	TAC	T	C150945527G	KCNH2	NM_000238.4(KCNH2):c.3331-13GT[2]	noncoding	Benign/Likely_benign
7	150945526	AC	A	C150945527A	KCNH2	NM_172057.2(KCNH2):c.2311-13del	noncoding	Benign
7	150945527	CA	C	A150945528G	KCNH2	NM_172057.2(KCNH2):c.2311-14del	noncoding	Benign
7	150946955	C	CG	T150946960G	KCNH2	NM_000238.3(KCNH2):c.3251dup:p.Pro1086fs	coding	Pathogenic
7	150946975	AGGCGGGC	A	C150946978G	KCNH2	NM_000238.3(KCNH2):c.3225_3231del:p.Pro1076fs	coding	Pathogenic
7	150947006	T	TA	G150947008A	KCNH2	NM_000238.3(KCNH2):c.3200dup:p.Gln1068fs	coding	Pathogenic
7	150947343	TGGAG	T	A150947346C	KCNH2	NM_000238.4(KCNH2):c.3133_3136del:p.Leu1045fs	coding	Pathogenic
7	150947343	TG	T	G150947345A	KCNH2	NM_000238.3(KCNH2):c.3136del:p.Gln1046fs	coding	Pathogenic
7	150947351	ATCCAGCCTGCTCTCCAC	TG	A150947351T	KCNH2	NM_000238.3(KCNH2):c.3112_3129delinsCA:p.Val1038fs	coding	Pathogenic
7	150947367	A	ACGTCG	C150947374G	KCNH2	NM_000238.4(KCNH2):c.3108_3112dup:p.Val1038fs	coding	Pathogenic
7	150947367	A	ACGTCGCCC	G150947378T	KCNH2	NM_172057.2(KCNH2):c.2085_2092dup:p.Val698fs	coding	Pathogenic
7	150947367	ACGTCGCCCCGGGGC	A	T150947370C	KCNH2	NM_000238.3(KCNH2):c.3099_3112del:p.Pro1034fs	coding	Pathogenic/Likely_pathogenic
7	150947370	T	TCGCCCCGGGGC	G150947386C	KCNH2	NM_000238.3(KCNH2):c.3099_3109dup:p.Asp1037fs	coding	Pathogenic
7	150947371	C	CG	C150947373G	KCNH2	NM_000238.3(KCNH2):c.3108dup:p.Asp1037fs	coding	Pathogenic
7	150947372	GC	G	C150947376G	KCNH2	NM_000238.4(KCNH2):c.3107del:p.Gly1036fs	coding	Pathogenic
7	150947372	G	GCCCC	G150947377C	KCNH2	NM_000238.3(KCNH2):c.3104_3107dup:p.Asp1037fs	coding	Pathogenic
7	150947372	G	GCCCCGGGGCCGCC	G150947386C	KCNH2	NM_000238.3(KCNH2):c.3095_3107dup:p.Asp1037fs	coding	Pathogenic
7	150947372	G	GC	G150947377C	KCNH2	NM_172057.2(KCNH2):c.2087dup:p.Asp697fs	coding	Pathogenic
7	150947373	CCCCGGGGCCGCCGA	C	G150947380C	KCNH2	NM_000238.3(KCNH2):c.3093_3106del:p.Pro1034fs	coding	Pathogenic
7	150947376	C	CG	C150947381G	KCNH2	NM_000238.4(KCNH2):c.3103dup:p.Arg1035fs	coding	Pathogenic
7	150947376	CG	C	G150947380C	KCNH2	NM_000238.4(KCNH2):c.3103del:p.Arg1035fs	coding	Pathogenic
7	150947377	GGGGCCGCCGACCC	G	C150947382T	KCNH2	NM_000238.3(KCNH2):c.3090_3102del:p.Arg1032fs	coding	Pathogenic
7	150947377	G	GGGGC	C150947382G	KCNH2	NM_000238.4(KCNH2):c.3099_3102dup:p.Arg1035fs	coding	Pathogenic
7	150947380	GC	G	C150947382G	KCNH2	NM_000238.3(KCNH2):c.3099del:p.Arg1035fs	coding	Pathogenic
7	150947380	G	GCCGC	G150947386C	KCNH2	NM_000238.3(KCNH2):c.3096_3099dup:p.Pro1034fs	coding	Pathogenic
7	150947381	C	CCG	C150947385G	KCNH2	NM_172057.2(KCNH2):c.2077_2078dup:p.Pro694fs	coding	Pathogenic/Likely_pathogenic
7	150947383	G	GCCGAC	G150947392A	KCNH2	NM_000238.3(KCNH2):c.3092_3096dup:p.Arg1033fs	coding	Pathogenic
7	150947385	CG	C	G150947386A	KCNH2	NM_172057.2(KCNH2):c.2074del:p.Arg692fs	coding	Pathogenic
7	150947386	G	GACCC	G150947391A	KCNH2	NM_000238.3(KCNH2):c.3090_3093dup:p.Arg1032fs	coding	Pathogenic
7	150947389	C	CCGGGCTGGAGAGGGGGATGTTGAGGAGGCTGGGGGTGGGGGCGGGGCATCGAGGGAGCTCCTGGTACTGGCGGCCCCGACTGTCCCCCCAGAAGCTGAAAATGTTGGACACTCCTGAGAAGGCGCCTGCAGCCAGAGAGCAGAGCTGGGTGAGCGGGGTAGACGCACCACCGCTGCCACGCCCGGTCCTCCCTCGCCCGCCCGTCGCCCGGGATACCTGACAGGGGGTTGCAAGTGTCGCTGCTCTTCTCGCAGTCCTCCATCAGGGGCTCCCCA	C150947666G	KCNH2	NM_000238.4(KCNH2):c.2966_2967insTATCCCGGGCGACGGGCGGGCGAGGGAGGACCGGGCGTGGCAGCGGTGGTGCGTCTACCCCGCTCACCCAGCTCTGCTCTCTGGCTGCAGGCGCCTTCTCAGGAGTGTCCAACATTTTCAGCTTCTGGGGGGACAGTCGGGGCCGCCAGTACCAGGAGCTCCCTCGATGCCCCGCCCCCACCCCCAGCCTCCTCAACATCCCCCTCTCCAGCCCGTGGGGAGCCCCTGATGGAGGACTGCGAGAAGAGCAGCGACACTTGCAACCCCCTGTCAGGTATCCCGGGCGACGGGCGGGCGAGGGAGGACCGGGCGTGGCAGCGGTGGTGCGTCTACCCCGCTCACCCAGCTCTGCTCTCTGGCTGCAGG:p.Ala990_Phe991insIleProGlyAspGlyArgAlaArgGluAspArgAlaTrpGlnArgTrpCysValTyrProAlaHisProAlaLeuLeuSerGlyCysArgArgLeuLeuArgSerValGlnHisPheGlnLeuLeuGlyGlyGlnSerGlyProProValProGlyAlaProSerMetProArgProHisProGlnProProGlnHisProProLeuGlnProValGlySerProTer	coding	Pathogenic
7	150947391	GG	CGGGAGACCC	G150947391C	KCNH2	NM_000238.3(KCNH2):c.3088_3089delinsGGGTCTCCCG:p.Pro1030fs	coding	Pathogenic
7	150947400	A	AG	A150947406G	KCNH2	NM_000238.3(KCNH2):c.3079dup:p.Leu1027fs	coding	Pathogenic
7	150947419	TG	T	G150947424T	KCNH2	NM_000238.3(KCNH2):c.3060del:p.Ser1021fs	coding	Pathogenic
7	150947425	TG	T	G150947430C	KCNH2	NM_000238.3(KCNH2):c.3054del:p.Thr1019fs	coding	Pathogenic
7	150947462	GC	G	C150947466G	KCNH2	NM_172057.2(KCNH2):c.1997del:p.Gly666fs	coding	Pathogenic
7	150947472	TC	T	C150947478A	KCNH2	NM_000238.4(KCNH2):c.3007del:p.Asp1003fs	coding	Pathogenic
7	150947472	T	TC	A150947479C	KCNH2	NM_000238.4(KCNH2):c.3007dup:p.Asp1003fs	coding	Pathogenic
7	150947512	C	CGCCT	A150947519C	KCNH2	NM_000238.4(KCNH2):c.2966-2_2967dup	coding	Pathogenic
7	150947610	CA	C	A150947611G	KCNH2	NM_000238.4(KCNH2):c.2960del:p.Leu987fs	coding	Pathogenic
7	150947610	CAG	C	A150947611G	KCNH2	NM_172057.2(KCNH2):c.1939_1940del:p.Leu647fs	coding	Pathogenic
7	150947618	T	TG	C150947620G	KCNH2	NM_000238.3(KCNH2):c.2952dup:p.Asn985fs	coding	Pathogenic
7	150947631	GCTCTT	G	T150947635G	KCNH2	NM_000238.3(KCNH2):c.2935_2939del:p.Lys979fs	coding	Pathogenic
7	150947652	CA	C	A150947653G	KCNH2	NM_000238.4(KCNH2):c.2918del:p.Leu973fs	coding	Pathogenic
7	150947653	A	AGG	C150947658G	KCNH2	NM_000238.3(KCNH2):c.2916_2917dup:p.Leu973fs	coding	Pathogenic
7	150947664	AC	A	C150947667G	KCNH2	NM_000238.3(KCNH2):c.2906del:p.Gly969fs	coding	Pathogenic
7	150947670	C	CG	C150947673G	KCNH2	NM_172057.2(KCNH2):c.1880dup:p.Pro628fs	coding	Pathogenic
7	150947678	C	CG	C150947685G	KCNH2	NM_000238.3(KCNH2):c.2892dup:p.Gly965fs	coding	Pathogenic
7	150947678	CG	C	G150947684C	KCNH2	NM_000238.3(KCNH2):c.2892del:p.Gly965fs	coding	Pathogenic
7	150947773	C	CT	G150947775T	KCNH2	NM_000238.3(KCNH2):c.2797dup:p.Ser933fs	coding	Pathogenic
7	150947778	CG	C	G150947781C	KCNH2	NM_000238.4(KCNH2):c.2792del:p.Pro931fs	coding	Pathogenic
7	150947781	GCTCTCCC	G	T150947783C	KCNH2	NM_000238.3(KCNH2):c.2783_2789del:p.Gly928fs	coding	Pathogenic
7	150947785	TC	T	C150947791A	KCNH2	NM_000238.4(KCNH2):c.2785del:p.Glu929fs	coding	Pathogenic
7	150947793	CG	C	G150947795C	KCNH2	NM_000238.3(KCNH2):c.2777del:p.Pro926fs	coding	Pathogenic
7	150947795	G	GC	G150947803C	KCNH2	NM_172057.2(KCNH2):c.1755dup:p.Pro586fs	coding	Pathogenic
7	150947798	CCCCCGGCCGG	C	C150947806T	KCNH2	NM_000238.3(KCNH2):c.2763_2772del:p.Arg922fs	coding	Pathogenic
7	150947800	C	CCCGG	C150947811G	KCNH2	NM_000238.4(KCNH2):c.2767_2770dup:p.Gly924fs	coding	Pathogenic
7	150947802	CG	C	G150947804C	KCNH2	NM_000238.4(KCNH2):c.2768del:p.Pro923fs	coding	Pathogenic
7	150947806	CG	C	G150947808C	KCNH2	NM_000238.3(KCNH2):c.2764del:p.Arg922fs	coding	Pathogenic
7	150947808	GC	G	C150947812G	KCNH2	NM_000238.4(KCNH2):c.2762del:p.Gly921fs	coding	Pathogenic
7	150947832	C	CGCCCG	C150947847G	KCNH2	NM_000238.3(KCNH2):c.2729_2733CGGGC[3]:p.Ala915fs	coding	Pathogenic
7	150947832	CGCCCG	C	G150947842C	KCNH2	NM_000238.4(KCNH2):c.2729_2733CGGGC[1]:p.Arg912fs	coding	Pathogenic
7	150947838	GC	G	C150947841G	KCNH2	NM_000238.3(KCNH2):c.2732del:p.Gly911fs	coding	Pathogenic
7	150947842	G	GGCCCC	A150947848G	KCNH2	NM_172057.2(KCNH2):c.1704_1708dup:p.Pro570fs	coding	Pathogenic/Likely_pathogenic
7	150947843	GC	G	C150947847A	KCNH2	NM_000238.4(KCNH2):c.2727del:p.Pro910fs	coding	Pathogenic
7	150947865	TG	T	G150947867C	KCNH2	NM_000238.3(KCNH2):c.2705del:p.Pro902fs	coding	Pathogenic
7	150948445	CT	G	C150948445G	KCNH2	NM_000238.3(KCNH2):c.2690_2691delinsC:p.Lys897fs	coding	Pathogenic
7	150948446	T	GTGTCG	T150948446G	KCNH2	NM_000238.3(KCNH2):c.2690delinsCGACAC:p.Lys897fs	coding	Pathogenic
7	150948449	TCCGTGCG	T	G150948452T	KCNH2	NM_000238.3(KCNH2):c.2680_2686del:p.Arg894fs	coding	Pathogenic
7	150948451	C	CGG	T150948453G	KCNH2	NM_000238.3(KCNH2):c.2684_2685insCC:p.Asp896fs	coding	Pathogenic
7	150948455	C	CGCCT	G150948462C	KCNH2	NM_000238.3(KCNH2):c.2677_2680dup:p.Arg894fs	coding	Pathogenic
7	150948478	C	CT	G150948481T	KCNH2	NM_000238.3(KCNH2):c.2657dup:p.Arg887fs	coding	Pathogenic
7	150948478	CTTGCG	C	G150948483C	KCNH2	NM_000238.4(KCNH2):c.2653_2657del:p.Arg885fs	coding	Pathogenic
7	150948492	TGAAGCCACCC	T	G150948493T	KCNH2	NM_000238.4(KCNH2):c.2634_2643del:p.Gly879fs	coding	Pathogenic
7	150948519	C	CG	A150948525G	KCNH2	NM_000238.4(KCNH2):c.2616dup:p.Gly873fs	coding	Pathogenic
7	150948956	TGTAGGTCACA	T	C150948963G	KCNH2	NM_000238.3(KCNH2):c.2482_2491del:p.Cys828fs	coding	Pathogenic
7	150948977	GC	G	C150948980G	KCNH2	NM_000238.3(KCNH2):c.2470del:p.Ala824fs	coding	Pathogenic
7	150948991	GT	G	T150948993C	KCNH2	NM_172057.2(KCNH2):c.1436del:p.Asn479fs	coding	Pathogenic
7	150948996	ACTTGCCAGGC	A	C150949002A	KCNH2	NM_000238.3(KCNH2):c.2442_2451del:p.Arg814fs	coding	Pathogenic
7	150949028	TC	T	C150949032A	KCNH2	NM_000238.3(KCNH2):c.2419del:p.Glu807fs	coding	Pathogenic
7	150950159	ACCCCATAC	A	C150950162A	KCNH2	NM_000238.4(KCNH2):c.2398+1_2398+8del	coding	Pathogenic
7	150950170	AG	A	G150950172A	KCNH2	NM_172056.2(KCNH2):c.2395del:p.Leu799fs	coding	Pathogenic
7	150950200	A	ATC	G150950205T	KCNH2	NM_172056.2(KCNH2):c.2362_2363GA[3]:p.Ile789fs	coding	Pathogenic
7	150950279	CAT	C	A150950280G	KCNH2	NM_000238.4(KCNH2):c.2285_2286del:p.His762fs	coding	Pathogenic
7	150950308	GC	G	C150950311G	KCNH2	NM_000238.4(KCNH2):c.2257del:p.Ala753fs	coding	Pathogenic
7	150950329	GC	G	C150950333T	KCNH2	NM_172056.2(KCNH2):c.2236del:p.Ala746fs	coding	Pathogenic
7	150950347	C	CA	G150950349A	KCNH2	NM_172056.2(KCNH2):c.2218dup:p.Cys740fs	coding	Pathogenic
7	150950950	AC	A	C150950952A	KCNH2	NM_172056.2(KCNH2):c.2115del:p.Trp705fs	coding	Pathogenic
7	150950981	CT	C	T150950982G	KCNH2	NM_172056.2(KCNH2):c.2084del:p.Gln695fs	coding	Pathogenic
7	150951012	CG	C	G150951014A	KCNH2	NM_172056.2(KCNH2):c.2053del:p.Arg685fs	coding	Pathogenic
7	150951021	TC	T	C150951024G	KCNH2	NM_000238.4(KCNH2):c.2044del:p.Glu682fs	coding	Pathogenic
7	150951027	AC	A	C150951030G	KCNH2	NM_172056.2(KCNH2):c.2038del:p.Val680fs	coding	Pathogenic
7	150951065	G	GT	A150951067T	KCNH2	NM_172056.2(KCNH2):c.2000dup:p.Tyr667Ter	coding	Pathogenic
7	150951098	GA	G	A150951100G	KCNH2	NM_000238.4(KCNH2):c.1967del:p.Phe656fs	coding	Pathogenic
7	150951504	AC	A	C150951505G	KCNH2	NM_172056.2(KCNH2):c.1888del:p.Val630fs	coding	Pathogenic
7	150951509	GC	G	C150951511G	KCNH2	NM_172056.2(KCNH2):c.1883del:p.Gly628fs	coding	Pathogenic
7	150951577	AG	A	G150951581C	KCNH2	NM_172056.2(KCNH2):c.1815del:p.Ser606fs	coding	Pathogenic
7	150951646	T	TGC	T150951650C	KCNH2	NM_000238.4(KCNH2):c.1745_1746dup:p.Ile583fs	coding	Pathogenic
7	150951691	AG	A	G150951692A	KCNH2	NM_172056.2(KCNH2):c.1701del:p.Trp568fs	coding	Pathogenic/Likely_pathogenic
7	150951697	AG	A	G150951699C	KCNH2	NM_172056.2(KCNH2):c.1695del:p.Cys566fs	coding	Pathogenic
7	150951716	GA	G	A150951717G	KCNH2	NM_172056.2(KCNH2):c.1676del:p.Leu559fs	coding	Pathogenic
7	150951772	GA	G	A150951773T	KCNH2	NM_172056.2(KCNH2):c.1620del:p.Arg541fs	coding	Pathogenic
7	150951814	CA	C	A150951815G	KCNH2	NM_000238.4(KCNH2):c.1578del:p.Ala527fs	coding	Pathogenic
7	150952457	CGAAGGGGATGGCGGCCACCATGTCGAT	C	A150952460G	KCNH2	NM_000238.3(KCNH2):c.1498_1524del27:p.Ile500_Phe508del	coding	Pathogenic
7	150952468	GC	G	C150952469G	KCNH2	NM_172056.2(KCNH2):c.1513del:p.Ala505fs	coding	Pathogenic
7	150952556	CGTA	C	T150952558G	KCNH2	NM_172056.2(KCNH2):c.1423_1425del:p.Tyr475del	coding	Pathogenic
7	150952602	GT	G	T150952603C	KCNH2	NM_000238.4(KCNH2):c.1379del:p.Asp460fs	coding	Pathogenic
7	150952646	C	CA	C150952648A	KCNH2	NM_172056.2(KCNH2):c.1335dup:p.Gly446fs	coding	Pathogenic
7	150952662	C	CG	C150952666G	KCNH2	NM_172056.2(KCNH2):c.1319dup:p.Pro441fs	coding	Pathogenic
7	150952665	GC	G	C150952667T	KCNH2	NM_172056.2(KCNH2):c.1316del:p.Gly439fs	coding	Pathogenic
7	150952696	GC	G	C150952698G	KCNH2	NM_172056.2(KCNH2):c.1285del:p.Ala429fs	coding	Pathogenic
7	150952720	GT	G	T150952721G	KCNH2	NM_172056.2(KCNH2):c.1261del:p.Thr421fs	coding	Pathogenic
7	150952777	T	TGCAG	A150952783C	KCNH2	NM_172056.2(KCNH2):c.1201_1204dup:p.His402fs	coding	Pathogenic
7	150952784	TG	T	G150952786T	KCNH2	NM_000238.4(KCNH2):c.1197del:p.Ile400fs	coding	Pathogenic
7	150952831	A	AC	G150952833C	KCNH2	NM_172056.2(KCNH2):c.1150dup:p.Val384fs	coding	Pathogenic
7	150952839	GC	G	C150952842A	KCNH2	NM_172056.2(KCNH2):c.1142del:p.Gly381fs	coding	Pathogenic
7	150952842	CA	C	A150952843G	KCNH2	NM_000238.4(KCNH2):c.1139del:p.Leu380fs	coding	Pathogenic
7	150952848	CAG	C	A150952849G	KCNH2	NM_172056.2(KCNH2):c.1132_1133del:p.Leu378fs	coding	Pathogenic
7	150957296	TGA	T	G150957297C	KCNH2	NM_172056.2(KCNH2):c.1121_1122del:p.Val374fs	coding	Pathogenic
7	150957305	C	CAG	T150957308A	KCNH2	NM_000238.4(KCNH2):c.1112_1113dup:p.Glu372fs	coding	Pathogenic
7	150957316	TG	T	G150957319T	KCNH2	NM_000238.4(KCNH2):c.1102del:p.His368fs	coding	Pathogenic/Likely_pathogenic
7	150957391	AG	A	G150957393T	KCNH2	NM_000238.4(KCNH2):c.1027del:p.Leu343fs	coding	Pathogenic
7	150957404	TG	T	G150957405A	KCNH2	NM_172056.2(KCNH2):c.1014del:p.Asn339fs	coding	Pathogenic
7	150958064	C	CTGGCG	C150958075T	KCNH2	NM_172056.2(KCNH2):c.901_905CGCCA[3]:p.Ser304fs	coding	Pathogenic
7	150958070	TG	T	G150958072C	KCNH2	NM_000238.4(KCNH2):c.904del:p.His302fs	coding	Pathogenic
7	150958089	GC	G	C150958090A	KCNH2	NM_172056.2(KCNH2):c.885del:p.Leu296fs	coding	Pathogenic
7	150958106	GCCTCGATGTCGTCGGCCGA	G	C150958108G	KCNH2	NM_172056.2(KCNH2):c.850_868del:p.Ser284fs	coding	Pathogenic
7	150958115	TCGTCGGC	T	T150958118A	KCNH2	NM_172056.2(KCNH2):c.853_859del:p.Ala285fs	coding	Pathogenic
7	150958148	CA	C	A150958149G	KCNH2	NM_172056.2(KCNH2):c.826del:p.Cys276fs	coding	Pathogenic
7	150958161	AGC	A	C150958165T	KCNH2	NM_000238.4(KCNH2):c.812_813del:p.Arg271fs	coding	Pathogenic
7	150958163	C	CT	G150958164T	KCNH2	NM_172056.2(KCNH2):c.811_812insA:p.Arg271fs	coding	Pathogenic
7	150958163	CGCG	GCTTTT	C150958163G	KCNH2	NM_172056.2(KCNH2):c.809_812delinsAAAAGC:p.Thr270fs	coding	Pathogenic
7	150958167	TCCG	ACT	T150958167A	KCNH2	NM_172056.2(KCNH2):c.805_808delinsAGT:p.Arg269fs	coding	Pathogenic
7	150958194	AGGCGTCG	A	C150958197G	KCNH2	NM_000238.4(KCNH2):c.774_780del:p.Asp259fs	coding	Pathogenic
7	150958220	C	CGGGGCGATGGGAGCTGGCCG	C150958243G	KCNH2	NM_172056.2(KCNH2):c.735_754dup:p.Arg252fs	coding	Pathogenic
7	150958242	GC	G	C150958243G	KCNH2	NM_172056.2(KCNH2):c.732del:p.Gly246fs	coding	Pathogenic
7	150958266	GAC	G	A150958267C	KCNH2	NM_000238.4(KCNH2):c.707_708del:p.Gly236fs	coding	Pathogenic
7	150958296	GC	G	C150958299G	KCNH2	NM_172056.2(KCNH2):c.678del:p.Ala228fs	coding	Pathogenic
7	150958306	TGCCA	G	T150958306G	KCNH2	NM_000238.4(KCNH2):c.665_669delinsC:p.Val222fs	coding	Pathogenic
7	150958402	CG	C	G150958406C	KCNH2	NM_172056.2(KCNH2):c.572del:p.Pro191fs	coding	Pathogenic
7	150958406	GCGCC	G	C150958410G	KCNH2	NM_172056.2(KCNH2):c.565_568del:p.Gly189fs	coding	Pathogenic/Likely_pathogenic
7	150958438	CGACGACTCCCGGGCCGTCAGCGCCA	C	A150958440C	KCNH2	NM_172056.2(KCNH2):c.512_536del:p.Leu171fs	coding	Pathogenic
7	150958467	G	GC	G150958469C	KCNH2	NM_000238.4(KCNH2):c.507dup:p.Leu170fs	coding	Pathogenic
7	150958473	G	GCAGCTTCAGGCGGAAGGTCTTGGCGCGGC	T150958504A	KCNH2	NM_000238.3(KCNH2):c.473_501dup:p.Pro168Alafs	coding	Pathogenic
7	150959573	TG	T	G150959577C	KCNH2	NM_172056.2(KCNH2):c.470del:p.Pro157fs	coding	Pathogenic
7	150959587	TGGTGGGGGGGCCCCGGTGGTTGGTGTCATGAGCCGGGGACCCCACCATGTCCTTCTCCATCA	T	G150959588C	KCNH2	NM_172056.2(KCNH2):c.395_456del:p.Val132fs	coding	Pathogenic
7	150959590	TG	T	G150959597C	KCNH2	NM_172056.2(KCNH2):c.453del:p.Thr152fs	coding	Pathogenic
7	150959641	TC	T	C150959642T	KCNH2	NM_172056.2(KCNH2):c.402del:p.Lys135fs	coding	Pathogenic
7	150959670	A	ACCAC	A150959671C	KCNH2	NM_172056.2(KCNH2):c.373_374insGTGG:p.Phe125fs	coding	Pathogenic
7	150974710	CC	AA	C150974710A	KCNH2	NM_172056.2(KCNH2):c.307_307+1delinsTT	coding	Pathogenic
7	150974765	C	CCTGCGCGAT	G150974782A	KCNH2	NM_172056.2(KCNH2):c.244_252dup:p.Ile82_Gln84dup	coding	Pathogenic
7	150974766	CTGCGCGATCTGCGCGGCAGCGCGGCGCTGCG	C	A150974773G	KCNH2	NM_172056.2(KCNH2):c.221_251del:p.Thr74fs	coding	Pathogenic
7	150974767	TGCGCGATCTGCGCGGCAGC	T	C150974771G	KCNH2	NM_000238.4(KCNH2):c.232_250del:p.Ala78fs	coding	Pathogenic
7	150974767	T	TGCGCGATCTGCGCGGCA	G150974790A	KCNH2	NM_172056.2(KCNH2):c.234_250dup:p.Gln84fs	coding	Pathogenic
7	150974776	TGCGCGGCA	T	A150974784G	KCNH2	NM_172056.2(KCNH2):c.234_241del:p.Ala79fs	coding	Pathogenic
7	150974863	CA	C	A150974864C	KCNH2	NM_172056.2(KCNH2):c.154del:p.Cys52fs	coding	Pathogenic
7	150974871	GC	TT	G150974871T	KCNH2	NM_172056.2(KCNH2):c.146_147delinsAA:p.Cys49Ter	coding	Pathogenic
7	150974911	AC	A	C150974914G	KCNH2	NM_172056.2(KCNH2):c.106del:p.Val36fs	coding	Pathogenic
7	150974917	GC	G	C150974918G	KCNH2	NM_172056.2(KCNH2):c.100del:p.Ala34fs	coding	Pathogenic
7	150974933	AC	A	C150974934T	KCNH2	NM_000238.4(KCNH2):c.84del:p.Lys28fs	coding	Pathogenic
7	150974936	T	TA	C150974938A	KCNH2	NM_172056.2(KCNH2):c.81dup:p.Lys28Ter	coding	Pathogenic
7	150975074	T	TC	A150975078C	KCNH2	NM_172056.2(KCNH2):c.77-136dup	noncoding	Benign
7	150977847	C	CA	C150977851A	KCNH2	NM_172056.2(KCNH2):c.66dup:p.Glu23Ter	coding	Pathogenic/Likely_pathogenic
7	150977867	TC	T	C150977869A	KCNH2	NM_000238.4(KCNH2):c.46del:p.Asp16fs	coding	Pathogenic
7	150977924	TGGGCGGGCC	T	G150977934C	KCNH2	NM_000238.4(KCNH2):c.-29_-21GGCCCGCCC[1]	noncoding	Benign/Likely_benign
7	151187179	CAG	C	A151187196C	ASB10	NM_001142459.2(ASB10):c.-67_-66CT[8]	coding	Benign
7	151187179	C	CAG	C151187198A	ASB10	NM_001142459.2(ASB10):c.-67_-66CT[10]	coding	Benign
7	151572664	C	CTAA	C151572665T	PRKAG2	NM_016203.4(PRKAG2):c.1050_1051insTTA:p.Glu351_Leu352insLeu	coding	Pathogenic
7	152162761	TTTTC	T	C152162765T	KMT2C	NM_170606.3(KMT2C):c.10812_10815del:p.Lys3605fs	coding	Pathogenic
7	152176803	GA	G	A152176804T	KMT2C	NM_170606.3(KMT2C):c.8649del:p.Arg2884fs	coding	Pathogenic
7	152177062	C	CT	G152177072T	KMT2C	NM_170606.3(KMT2C):c.8390dup:p.Glu2798fs	coding	Pathogenic
7	152182446	C	CCACTA	T152182453A	KMT2C	NM_170606.3(KMT2C):c.5409_5413dup:p.Gly1805fs	coding	Pathogenic
7	152183022	AG	A	G152183024A	KMT2C	NM_170606.3(KMT2C):c.5216del:p.Pro1739fs	coding	Pathogenic
7	152183134	GCT	G	C152183137G	KMT2C	NM_170606.3(KMT2C):c.5101_5102AG[1]:p.Arg1701fs	coding	Pathogenic
7	152187399	C	CGA	C152187400G	KMT2C	NM_170606.3(KMT2C):c.4870_4871insTC:p.Gly1624fs	coding	Pathogenic
7	152222037	GT	G	T152222038G	KMT2C	NM_170606.3(KMT2C):c.3462del:p.Leu1155_Val1156insTer	coding	Pathogenic
7	152247986	G	GT	A152247988T	KMT2C	NM_170606.3(KMT2C):c.2447dup:p.Tyr816Ter	coding	Benign
7	152248481	TTC	T	C152248483G	KMT2C	NM_170606.3(KMT2C):c.1951_1952del:p.Glu651fs	coding	Pathogenic
7	152248603	CTG	C	G152248605A	KMT2C	NM_170606.3(KMT2C):c.1829_1830del:p.Thr610fs	coding	Pathogenic
7	152263136	AAATAAGATAGCATT	A	A152263140G	KMT2C	NM_170606.3(KMT2C):c.1185-20_1185-7del	noncoding	Pathogenic
7	152648807	A	AT	A152648809T	XRCC2	NM_005431.2(XRCC2):c.677dup:p.Tyr226Ter	coding	Pathogenic
7	155803004	TG	T	G155803006C	SHH	NM_000193.4(SHH):c.1284del:p.Thr429fs	coding	Pathogenic
7	155803030	G	GC	A155803032C	SHH	NM_000193.4(SHH):c.1258dup:p.Ala420fs	coding	Pathogenic
7	155803062	GCCGCCCCCGCGGTCC	G	C155803068G	SHH	NM_000193.4(SHH):c.1212_1226del:p.Asp405_Gly409del	coding	Pathogenic
7	155803116	CG	C	G155803117C	SHH	NM_000193.4(SHH):c.1172del:p.Ala391fs	coding	Pathogenic
7	155803148	GGAAGGGCGC	G	G155803154C	SHH	NM_000193.4(SHH):c.1132_1140del:p.Ala378_Phe380del	coding	Pathogenic
7	155803415	CCGAGCCCGAGGACGCCTCGGGCT	C	G155803417C	SHH	NM_000193.4(SHH):c.851_873del:p.Glu284fs	coding	Pathogenic
7	155803480	TGCGCGGCGGTGAGCAGCAGGC	T	G155803483T	SHH	NM_000193.4(SHH):c.788_808del:p.Arg263_Ala269del	coding	Pathogenic
7	155806434	C	CGTAGT	C155806441T	SHH	NM_000193.4(SHH):c.419_423dup:p.Glu142fs	coding	Pathogenic
7	155806441	CAG	C	G155806445C	SHH	NM_000193.4(SHH):c.413_414CT[1]:p.Leu139fs	coding	Pathogenic
7	155812021	CCT	C	T155812023C	SHH	NM_000193.4(SHH):c.100_101del:p.Arg34fs	coding	Pathogenic
7	155812077	GCGAGGAGA	G	G155812084C	SHH	NM_000193.4(SHH):c.38_45del:p.Val13fs	coding	Pathogenic
7	155812113	G	GCAGC	A155812118C	SHH	NM_000193.4(SHH):c.6_9dup:p.Leu4fs	coding	Pathogenic
7	156681085	T	TA	C156681097A	LMBR1	NM_022458.4(LMBR1):c.*2992dup	noncoding	Benign
7	156682292	G	GT	A156682294T	LMBR1	NM_022458.4(LMBR1):c.*1785dup	noncoding	Benign
7	156683941	G	GA	T156683951A	LMBR1	NM_022458.4(LMBR1):c.*136dup	noncoding	Benign
7	156893170	GAGC	G	A156893174T	LMBR1	NM_022458.4(LMBR1):c.-183_-181GCT[1]	noncoding	Benign
7	157009949	A	AGCGGCG	A157009979G	MNX1	NM_005515.4(MNX1):c.375_377CGC[11]:p.Ala133_Ala134dup	coding	Benign/Likely_benign
7	157010013	GGCCCCCCGTGCCC	G	C157010017G	MNX1	NM_005515.4(MNX1):c.325_337del:p.Gly109fs	coding	Pathogenic
7	157010233	CAG	C	G157010235T	MNX1	NM_005515.4(MNX1):c.116_117del:p.Ser39fs	coding	Pathogenic
7	157010273	CG	C	G157010274C	MNX1	NM_005515.4(MNX1):c.77del:p.Ala26fs	coding	Pathogenic
7	157010297	T	TG	T157010304G	MNX1	NM_005515.4(MNX1):c.53dup:p.Arg19fs	coding	Pathogenic
7	157621372	G	GGCCAGTTTCCACCGCCCGTAACCCAGGCTTCCTGCCCCCGGGGCTGGTACGTACAGGTCAGCACA	G157621378T	PTPRN2	NM_002847.5(PTPRN2):c.2333_2334insTGTGCTGACCTGTACGTACCAGCCCCGGGGGCAGGAAGCCTGGGTTACGGGCGGTGGAAACTGGC:p.Tyr782fs	coding	Benign
7	158489789	CG	C	G158489793A	PTPRN2	NM_002847.5(PTPRN2):c.113-5del	noncoding	Benign
7	158922370	TC	T	C158922373T	DYNC2I1	NM_018051.5(DYNC2I1):c.1922-4del	noncoding	Benign
7	158930469	G	GGGA	G158930475A	DYNC2I1	NM_018051.5(DYNC2I1):c.2503_2505dup:p.Arg835dup	coding	Pathogenic
7	158941986	AG	A	G158941987T	DYNC2I1	NM_018051.5(DYNC2I1):c.2841del:p.Gln947fs	coding	Pathogenic
8	1771115	TG	T	G1771120A	CLN8	NM_018941.3(CLN8):c.66del:p.Ile23fs	coding	Pathogenic/Likely_pathogenic
8	1771141	CG	C	G1771142C	CLN8	NM_018941.3(CLN8):c.88del:p.Ala30fs	coding	Pathogenic/Likely_pathogenic
8	1771232	GAGA	G	A1771235G	CLN8	NM_018941.3(CLN8):c.181_183del:p.Lys61del	coding	Pathogenic/Likely_pathogenic
8	1771479	CCTTT	C	T1771483G	CLN8	NM_018941.4(CLN8):c.429_432del:p.Phe143fs	coding	Pathogenic
8	1780297	G	GATTC	C1780303T	CLN8	NM_018941.4(CLN8):c.593_596dup:p.Met200fs	coding	Pathogenic
8	1780407	TC	T	C1780409T	CLN8	NM_018941.3(CLN8):c.703del:p.Val236fs	coding	Pathogenic/Likely_pathogenic
8	1857947	TTTTTC	T	C1857952T	ARHGEF10	NM_014629.4(ARHGEF10):c.38-8_38-4del	noncoding	Benign
8	1859890	TC	T	C1859894A	ARHGEF10	NM_014629.4(ARHGEF10):c.194-3del	noncoding	Benign
8	1896457	CT	C	T1896467C	ARHGEF10	NM_014629.4(ARHGEF10):c.1557+18del	noncoding	Benign
8	6406690	GTGA	G	T6406691G	MCPH1	NM_024596.5(MCPH1):c.22+2_22+4del	noncoding	Pathogenic
8	6415019	TG	T	G6415020A	MCPH1	NM_024596.5(MCPH1):c.233+137del	noncoding	Benign
8	6431577	T	TA	G6431587A	MCPH1	NM_024596.5(MCPH1):c.321dup:p.Arg108fs	coding	Pathogenic
8	6436147	C	CA	C6436154A	MCPH1	NM_024596.5(MCPH1):c.427dup:p.Thr143fs	coding	Pathogenic/Likely_pathogenic
8	6439078	G	GA	T6439083A	MCPH1	NM_024596.5(MCPH1):c.566dup:p.Asn189fs	coding	Pathogenic
8	6442351	G	GT	C6442360T	MCPH1	NM_024596.5(MCPH1):c.670+203dup	noncoding	Benign
8	6455185	CAT	C	A6455186G	MCPH1	NM_024596.5(MCPH1):c.1869_1870del:p.Ser623_Cys624insTer	coding	Pathogenic
8	10606867	TC	T	C10606868G	RP1L1	NM_178857.6(RP1L1):c.*27del	noncoding	Benign
8	10610142	G	GCCTCTAACTGCACCCTCTCTTCTTGCAGCCCTTCTATTACTTTAGTCC	T10610148A	RP1L1	NM_178857.6(RP1L1):c.3955_3956insGGACTAAAGTAATAGAAGGGCTGCAAGAAGAGAGGGTGCAGTTAGAGG:p.Ala1319_Val1320insGlyThrLysValIleGluGlyLeuGlnGluGluArgValGlnLeuGlu	coding	Pathogenic
8	10622598	TC	T	C10622601G	RP1L1	NM_178857.6(RP1L1):c.603del:p.Lys203fs	coding	Pathogenic
8	10622785	T	TG	C10622790G	RP1L1	NM_178857.6(RP1L1):c.416dup:p.Gly140fs	coding	Benign/Likely_benign
8	11708666	G	GGCC	T11708681C	GATA4	NM_002052.5(GATA4):c.357_359CGC[5]:p.Ala126dup	coding	Pathogenic
8	11757011	CG	C	G11757012A	GATA4	NM_002052.5(GATA4):c.1075del:p.Glu359fs	coding	Pathogenic
8	15623162	GA	G	A15623166T	TUSC3	NM_006765.4(TUSC3):c.225del:p.Lys75fs	coding	Pathogenic
8	15650803	G	GT	C15650809T	TUSC3	NM_006765.4(TUSC3):c.420dup:p.Gln141fs	coding	Pathogenic
8	15673823	A	AC	A15673825C	TUSC3	NM_006765.4(TUSC3):c.786dup:p.Asn263fs	coding	Pathogenic
8	16995707	AC	A	C16995708A	FGF20	NM_019851.3(FGF20):c.337del:p.Val113fs	coding	Pathogenic
8	18056822	ACTTC	A	C18056826A	ASAH1	NM_177924.5(ASAH1):c.*708_*711del	noncoding	Benign
8	18062327	C	CTTGAAG	A18062334T	ASAH1	NM_177924.5(ASAH1):c.594_599dup:p.Lys200_Ala201insAsnPhe	coding	Pathogenic
8	18064502	CAT	C	T18064504A	ASAH1	NM_177924.5(ASAH1):c.410_411del:p.Phe136_Tyr137insTer	coding	Pathogenic
8	18064536	GAGAAA	G	G18064543T	ASAH1	NM_177924.5(ASAH1):c.383-10_383-6del	noncoding	Pathogenic
8	18067100	T	TGCACCTGTGCTGTATATCTAAGACATACA	G18067145A	ASAH1	NM_177924.5(ASAH1):c.382+91_382+119dup	noncoding	Benign
8	18069802	TCCA	T	A18069808T	ASAH1	NC_000008.11:g.18069805_18069807ACC[1]	coding	Pathogenic
8	18069838	G	GT	A18069840T	ASAH1	NM_177924.5(ASAH1):c.256dup:p.Thr86fs	coding	Pathogenic
8	18069871	A	AG	C18069872G	ASAH1	NM_177924.5(ASAH1):c.223_224insC:p.Val75fs	coding	Pathogenic
8	18071244	G	GAAATA	A18071258T	ASAH1	NM_177924.5(ASAH1):c.216+46TATTT[3]	noncoding	Benign
8	18071341	A	AG	T18071345G	ASAH1	NM_177924.5(ASAH1):c.174dup:p.Tyr59fs	coding	Pathogenic
8	19505462	GC	G	C19505463A	CSGALNACT1	NM_018371.4(CSGALNACT1):c.372del:p.His125fs	coding	Pathogenic
8	19948181	AAGAAG	A	A19948185T	LPL	NM_000237.3(LPL):c.94_98del:p.Arg32fs	coding	Pathogenic
8	19951808	GCCGCC	TTTGCCAAAA	G19951808T	LPL	NM_000237.3(LPL):c.289_294delinsTTTGCCAAAA:p.Ala97fs	coding	Pathogenic
8	19954319	AG	A	G19954320C	LPL	NM_000237.3(LPL):c.742del:p.Ala248fs	coding	Pathogenic
8	22114448	T	TA	T22114457A	HR	NM_005144.4(HR):c.*1251dup	noncoding	Benign
8	22122790	CCTGG	C	C22122795A	HR	NM_005144.5(HR):c.1997_2000CCAG[1]:p.Ser667fs	coding	Pathogenic
8	22165128	AG	A	G22165138A	BMP1;SFTPC	NM_006129.4(BMP1):c.-277delG	noncoding	Benign
8	22404715	AGCTGCT	A	T22404724A	SLC39A14	NM_001128431.4(SLC39A14):c.8TGC[2]:p.Leu5_Leu6del	coding	Benign
8	22409964	TCA	T	C22409965G	SLC39A14	NM_001128431.4(SLC39A14):c.457+1469_457+1470del	coding	Pathogenic
8	24952860	TCTC	T	C24952867T	NEFL	NM_006158.5(NEFL):c.1573_1575GAG[2]:p.Glu527del	coding	Benign
8	24953557	GC	T	G24953557T	NEFL	NM_006158.4(NEFL):c.1407_1408delinsA:p.Ser472fs	coding	Benign
8	24955475	CAT	C	T24955477G	NEFL	NM_006158.5(NEFL):c.1039_1040del:p.Met347fs	coding	Pathogenic
8	24956493	GG	CT	G24956493C	NEFL	NM_006158.4(NEFL):c.22_23delCCinsAG:p.Pro8Arg	coding	Pathogenic
8	25308930	AGTCCAGTGCCAGAGCTGGGAGGGACTCTGCT	A	T25308932A	DOCK5	NM_024940.8(DOCK5):c.1192+7_1192+37del	noncoding	Benign
8	25423312	G	GT	G25423318T	GNRH1	NM_001083111.2(GNRH1):c.18dup:p.Leu7fs	coding	Pathogenic
8	27460602	ATCT	A	T27460605A	CHRNA2	NM_000742.4(CHRNA2):c.*1024_*1026del	noncoding	Benign
8	27469321	AGG	A	G27469326C	CHRNA2	NM_000742.4(CHRNA2):c.339+12_339+13del	noncoding	Benign
8	27469385	C	CCAGAGAGAGA	G27469401A	CHRNA2	NM_000742.4(CHRNA2):c.295-16_295-7dup	noncoding	Benign
8	27776498	GAAAT	G	A27776504G	ESCO2	NM_001017420.3(ESCO2):c.196_199del:p.Asn66fs	coding	Pathogenic
8	27776558	GTA	G	A27776560C	ESCO2	NM_001017420.3(ESCO2):c.252_253del:p.Ser85fs	coding	Pathogenic
8	27776599	GGAGA	G	G27776602A	ESCO2	NM_001017420.3(ESCO2):c.292_293GA[1]:p.Arg99fs	coding	Pathogenic
8	27776613	TAAAAG	T	A27776615G	ESCO2	NM_001017420.3(ESCO2):c.307_311del:p.Lys103fs	coding	Pathogenic
8	27776613	TAA	T	A27776616G	ESCO2	NM_001017420.3(ESCO2):c.308_309del:p.Lys103fs	coding	Pathogenic
8	27776719	C	CA	C27776726A	ESCO2	NM_001017420.3(ESCO2):c.417dup:p.Pro140fs	coding	Pathogenic
8	27776764	TA	T	A27776765G	ESCO2	NM_001017420.3(ESCO2):c.457del:p.Arg153fs	coding	Pathogenic
8	27776776	G	GC	T27776779C	ESCO2	NM_001017420.3(ESCO2):c.470dup:p.Val158fs	coding	Pathogenic
8	27777051	CTG	C	G27777053C	ESCO2	NM_001017420.3(ESCO2):c.745_746del:p.Val249fs	coding	Pathogenic
8	27777058	T	TG	A27777060G	ESCO2	NM_001017420.3(ESCO2):c.751dup:p.Glu251fs	coding	Pathogenic
8	27777059	GA	G	A27777068C	ESCO2	NM_001017420.3(ESCO2):c.760del:p.Thr254fs	coding	Pathogenic
8	27777059	G	GA	C27777069A	ESCO2	NM_001017420.3(ESCO2):c.760dup:p.Thr254fs	coding	Pathogenic
8	27777069	CTT	C	T27777072G	ESCO2	NM_001017420.3(ESCO2):c.764_765del:p.Phe255fs	coding	Pathogenic
8	27780185	TGACA	T	C27780188G	ESCO2	NM_001017420.3(ESCO2):c.876_879del:p.Asp292fs	coding	Pathogenic
8	27780188	CAG	C	A27780191T	ESCO2	NM_001017420.3(ESCO2):c.877_878AG[1]:p.Arg293fs	coding	Pathogenic
8	27780206	A	TTTTAT	A27780206T	ESCO2	NM_001017420.3(ESCO2):c.894delinsTTTTAT:p.Glu298fs	coding	Pathogenic
8	27780218	T	TA	T27780224A	ESCO2	NM_001017420.3(ESCO2):c.911dup:p.Asn304fs	coding	Pathogenic
8	27780265	CAAGT	C	T27780269A	ESCO2	NM_001017420.3(ESCO2):c.955+2_955+5del	coding	Pathogenic
8	27787975	T	TA	C27787983A	ESCO2	NM_001017420.3(ESCO2):c.1111dup:p.Thr371fs	coding	Pathogenic/Likely_pathogenic
8	27787982	A	AG	C27787983G	ESCO2	NM_001017420.3(ESCO2):c.1111_1112insG:p.Thr371fs	coding	Pathogenic
8	27792746	ACTTTT	A	C27792752T	ESCO2	NM_001017420.3(ESCO2):c.1433_1437CTTTT[1]:p.Leu480fs	coding	Pathogenic
8	27792770	AAG	A	A27792775T	ESCO2	NM_001017420.3(ESCO2):c.1457_1458AG[2]:p.Arg487fs	coding	Pathogenic
8	27799639	C	CT	G27799641T	ESCO2	NM_001017420.3(ESCO2):c.1597dup:p.Cys533fs	coding	Pathogenic
8	27803904	AT	A	T27803919A	ESCO2	NM_001017420.3(ESCO2):c.*481del	noncoding	Benign
8	30709906	TAA	T	A30709923G	GSR	NM_000637.5(GSR):c.334-6_334-5del	noncoding	Benign
8	30709906	TA	T	A30709924G	GSR	NM_000637.5(GSR):c.334-5del	noncoding	Benign
8	30845977	GA	G	A30845978T	TEX15	NM_001350162.2(TEX15):c.4189del:p.Ser1397fs	coding	Pathogenic
8	30847585	CTATCTGTT	C	A30847587G	TEX15	NM_001350162.2(TEX15):c.2574_2581del:p.Thr859fs	coding	Pathogenic
8	31058454	GA	G	A31058462T	WRN	NM_000553.6(WRN):c.15del:p.Lys5fs	coding	Pathogenic
8	31059226	AC	A	C31059227G	WRN	NM_000553.6(WRN):c.171del:p.Ser56_Tyr57insTer	coding	Pathogenic
8	31064304	T	TG	A31064309G	WRN	NM_000553.6(WRN):c.229dup:p.Asp77fs	coding	Pathogenic
8	31064350	AG	A	G31064351A	WRN	NM_000553.6(WRN):c.272del:p.Arg91fs	coding	Pathogenic
8	31065044	CAG	C	G31065046T	WRN	NM_000553.6(WRN):c.487_488del:p.Asp163fs	coding	Pathogenic/Likely_pathogenic
8	31065057	TAA	T	A31065061G	WRN	NM_000553.6(WRN):c.502_503del:p.Lys168fs	coding	Pathogenic
8	31067035	G	GAA	T31067039A	WRN	NM_000553.6(WRN):c.509_510dup:p.Cys171fs	coding	Pathogenic
8	31067040	GCA	G	C31067043G	WRN	NM_000553.6(WRN):c.513_514CA[1]:p.Thr172fs	coding	Pathogenic
8	31067049	C	CCT	G31067052C	WRN	NM_000553.6(WRN):c.522_523dup:p.Trp175fs	coding	Pathogenic
8	31067051	TG	T	G31067053A	WRN	NM_000553.6(WRN):c.525del:p.Thr174_Trp175insTer	coding	Pathogenic
8	31067175	A	AT	G31067177T	WRN	NM_000553.6(WRN):c.648dup:p.Ala217fs	coding	Pathogenic
8	31076156	AT	A	T31076164C	WRN	NM_000553.6(WRN):c.725-9del	noncoding	Benign
8	31076198	GAACA	G	A31076203G	WRN	NM_000553.6(WRN):c.751_754AACA[1]:p.Lys252fs	coding	Pathogenic
8	31076300	CT	C	T31076312A	WRN	NM_000553.6(WRN):c.839+25del	noncoding	Benign
8	31080884	AG	A	G31080886A	WRN	NM_000553.6(WRN):c.859del:p.Asp287fs	coding	Pathogenic
8	31080922	A	AT	A31080924T	WRN	NM_000553.6(WRN):c.896dup:p.Ile300fs	coding	Pathogenic
8	31080947	CTG	C	T31080948A	WRN	NM_000553.6(WRN):c.921_922del:p.Glu308fs	coding	Pathogenic
8	31081006	G	GGAGT	A31081011G	WRN	NM_000553.6(WRN):c.980_983dup:p.Gln329fs	coding	Pathogenic
8	31081141	GA	C	G31081141C	WRN	NM_000553.6(WRN):c.1114_1115delinsC:p.Asp372fs	coding	Pathogenic
8	31081189	GA	G	A31081192G	WRN	NM_000553.6(WRN):c.1165del:p.Arg389fs	coding	Pathogenic/Likely_pathogenic
8	31083716	TAATG	T	T31083719A	WRN	NM_000553.6(WRN):c.1290_1293del:p.Asn430fs	coding	Pathogenic
8	31088890	AC	A	C31088891T	WRN	NM_000553.6(WRN):c.1578del:p.Leu528fs	coding	Pathogenic/Likely_pathogenic
8	31090474	GA	G	A31090477G	WRN	NM_000553.6(WRN):c.1665del:p.Lys555_Val556insTer	coding	Pathogenic
8	31100837	CT	C	T31100844A	WRN	NM_000553.6(WRN):c.1982-5del	noncoding	Benign/Likely_benign
8	31100837	CTT	C	T31100843A	WRN	NM_000553.6(WRN):c.1982-6_1982-5del	noncoding	Benign
8	31100859	C	CA	T31100861A	WRN	NM_000553.6(WRN):c.1993dup:p.Ile665fs	coding	Pathogenic
8	31111627	GCA	G	A31111629T	WRN	NM_000553.6(WRN):c.2103_2104del:p.Leu702fs	coding	Pathogenic
8	31111632	T	TA	C31111634A	WRN	NM_000553.6(WRN):c.2107dup:p.Thr703fs	coding	Pathogenic
8	31111704	C	CT	G31111706T	WRN	NM_000553.6(WRN):c.2179dup:p.Cys727fs	coding	Pathogenic
8	31116423	AG	A	G31116425T	WRN	NM_000553.6(WRN):c.2345del:p.Gly782fs	coding	Pathogenic
8	31116438	A	AC	T31116440C	WRN	NM_000553.6(WRN):c.2359dup:p.Leu787fs	coding	Pathogenic
8	31116439	CTG	TT	C31116439T	WRN	NM_000553.6(WRN):c.2359_2361delinsTT:p.Asn788fs	coding	Pathogenic
8	31120295	GC	G	C31120297A	WRN	NM_000553.6(WRN):c.2503del:p.Gln835fs	coding	Pathogenic
8	31120338	T	TTA	C31120342A	WRN	NM_000553.6(WRN):c.2546_2547dup:p.Gln850fs	coding	Pathogenic
8	31120375	CA	C	A31120378G	WRN	NM_000553.6(WRN):c.2584del:p.Ser862fs	coding	Pathogenic
8	31120426	T	TA	T31120435A	WRN	NM_000553.6(WRN):c.2630+10dup	noncoding	Benign
8	31132435	C	CT	G31132440T	WRN	NM_000553.6(WRN):c.2900dup:p.Leu967fs	coding	Pathogenic
8	31132489	TTA	T	A31132491T	WRN	NM_000553.6(WRN):c.2952_2953del:p.Leu984fs	coding	Pathogenic
8	31141489	TCAAA	T	A31141492G	WRN	NM_000553.6(WRN):c.3030_3033del:p.Thr1011fs	coding	Pathogenic
8	31141494	CAG	C	A31141499T	WRN	NM_000553.6(WRN):c.3033_3034AG[2]:p.Ser1013fs	coding	Pathogenic
8	31141736	CT	C	T31141737A	WRN	NM_000553.6(WRN):c.3195del:p.Asn1066fs	coding	Pathogenic
8	31142698	GA	G	A31142700G	WRN	NM_000553.6(WRN):c.3308del:p.Lys1103fs	coding	Pathogenic
8	31143615	TA	T	A31143622G	WRN	NM_000553.6(WRN):c.3382del:p.Ser1128fs	coding	Pathogenic
8	31143615	T	TA	G31143623A	WRN	NM_000553.6(WRN):c.3382dup:p.Ser1128fs	coding	Pathogenic
8	31147072	G	GA	G31147078A	WRN	NM_000553.6(WRN):c.3408dup:p.Ala1137fs	coding	Pathogenic
8	31150354	GA	G	A31150358C	WRN	NM_000553.6(WRN):c.3590del:p.Asn1197fs	coding	Pathogenic
8	31150442	CAAAT	C	A31150444G	WRN	NM_000553.6(WRN):c.3676_3679del:p.Asn1226fs	coding	Pathogenic
8	31150449	TG	T	G31150450T	WRN	NM_000553.6(WRN):c.3682del:p.Val1228fs	coding	Pathogenic
8	31154621	TAGAC	T	A31154626C	WRN	NM_000553.4(WRN):c.3690_3693delAGAC:p.Asp1231Serfs	noncoding	Pathogenic
8	31154643	CA	C	A31154647C	WRN	NM_000553.6(WRN):c.3711del:p.Lys1237fs	coding	Pathogenic
8	31157399	TCA	T	C31157400T	WRN	NM_000553.6(WRN):c.3852_3853del:p.Met1285fs	coding	Pathogenic
8	31157462	G	GA	G31157464A	WRN	NM_000553.6(WRN):c.3915dup:p.Ala1306fs	coding	Pathogenic
8	31167003	G	GT	A31167011T	WRN	NM_000553.6(WRN):c.3983-12dup	noncoding	Benign
8	37737938	GC	G	C37737939A	ERLIN2	NM_007175.8(ERLIN2):c.17del:p.Ala6fs	coding	Pathogenic
8	37737964	CT	C	T37737968G	ERLIN2	NM_007175.8(ERLIN2):c.46del:p.Cys16fs	coding	Pathogenic
8	37744623	CA	C	A37744625C	ERLIN2	NM_007175.8(ERLIN2):c.353del:p.Asn118fs	coding	Pathogenic
8	37753521	G	GCA	C37753523A	ERLIN2	NM_007175.8(ERLIN2):c.812_813insAC:p.Asn272fs	coding	Pathogenic
8	37772802	GCAGA	G	G37772805A	PLPBP	NM_007198.4(PLPBP):c.370_373del:p.Asp124fs	coding	Pathogenic
8	38143305	AT	A	T38143324G	STAR	NM_000349.3(STAR):c.*967del	noncoding	Benign
8	38144319	AG	A	G38144321T	STAR	NM_000349.3(STAR):c.811del:p.Leu271fs	coding	Pathogenic/Likely_pathogenic
8	38145251	GT	G	T38145254G	STAR	NM_000349.3(STAR):c.714del:p.Lys238fs	coding	Pathogenic/Likely_pathogenic
8	38145270	TC	T	C38145272A	STAR	NM_000349.3(STAR):c.695del:p.Gly232fs	coding	Pathogenic/Likely_pathogenic
8	38145982	CAG	C	A38145983G	STAR	NM_000349.3(STAR):c.629_630del:p.Pro210fs	coding	Pathogenic/Likely_pathogenic
8	38148206	ACT	A	T38148210C	STAR	NM_000349.3(STAR):c.296_297AG[1]:p.Gln101fs	coding	Pathogenic/Likely_pathogenic
8	38148215	CT	C	T38148217C	STAR	NM_000349.3(STAR):c.290del:p.Lys97fs	coding	Pathogenic
8	38148303	TAG	T	A38148308T	STAR	NM_000349.3(STAR):c.197_198CT[2]:p.Tyr68fs	coding	Pathogenic
8	38148638	T	TA	C38148640A	STAR	NM_000349.3(STAR):c.178+2dup	noncoding	Pathogenic
8	38148683	TA	T	A38148684G	STAR	NM_000349.3(STAR):c.135del:p.Ser46fs	coding	Pathogenic/Likely_pathogenic
8	38148693	G	GC	A38148700C	STAR	NM_000349.3(STAR):c.125dup:p.Thr44fs	coding	Pathogenic
8	38150785	TC	T	C38150788A	STAR	NM_000349.3(STAR):c.33del:p.Ser12fs	coding	Pathogenic
8	38150809	CTA	C	T38150810G	STAR	NM_000349.3(STAR):c.8_9del:p.Leu3fs	coding	Pathogenic
8	38233086	T	TGGATGCTG	C38233096G	DDHD2	NM_015214.3(DDHD2):c.94_101dup:p.Ser35fs	coding	Pathogenic
8	38234542	TA	T	A38234544G	DDHD2	NM_015214.3(DDHD2):c.371del:p.Lys124fs	coding	Pathogenic
8	38251952	A	AC	A38251954C	DDHD2	NM_015214.3(DDHD2):c.1386dup:p.Ile463fs	coding	Pathogenic
8	38253035	C	CT	A38253040T	DDHD2	NM_015214.3(DDHD2):c.1803dup:p.Thr602fs	coding	Pathogenic
8	38253035	CT	C	T38253039A	DDHD2	NM_015214.3(DDHD2):c.1803del:p.Phe601fs	coding	Pathogenic
8	38253644	CTA	C	A38253646G	DDHD2	NM_015214.3(DDHD2):c.1982_1983del:p.Tyr661fs	coding	Pathogenic
8	38260041	GA	G	A38260042G	DDHD2	NM_015214.3(DDHD2):c.2057del:p.Glu686fs	coding	Pathogenic
8	38415949	TCTGGGTTGTGG	T	T38415955G	FGFR1	NM_015850.4(FGFR1):c.1758_1768del:p.Ser586fs	coding	Pathogenic
8	38416012	TC	T	C38416015G	FGFR1	NM_015850.4(FGFR1):c.1705del:p.Glu569fs	coding	Pathogenic
8	38416052	AC	A	C38416053A	FGFR1	NM_023110.3(FGFR1):c.1671del:p.Leu557fs	coding	Pathogenic
8	38417362	TTCA	T	A38417368T	FGFR1	NM_015850.4(FGFR1):c.1595_1597TGA[1]:p.Met533del	coding	Pathogenic/Likely_pathogenic
8	38417909	GT	G	T38417912G	FGFR1	NM_023110.3(FGFR1):c.1512del:p.Lys504fs	coding	Pathogenic
8	38424623	CT	C	T38424624C	FGFR1	NM_023110.2(FGFR1):c.821del:p.Glu274fs	coding	Pathogenic
8	38457404	T	TGACCAGC	A38457412G	FGFR1	NM_023110.2(FGFR1):c.36_42dup:p.Thr15fs	coding	Pathogenic
8	39023332	AT	A	T39023342A	ADAM9	NM_003816.3(ADAM9):c.914+17del	noncoding	Benign
8	39026823	G	GTTCT	C39026829T	ADAM9	NM_003816.3(ADAM9):c.1130+15_1130+18dup	noncoding	Benign
8	39082773	GAAATCTCAGGACTAGA	G	A39082774T	ADAM9	NM_003816.3(ADAM9):c.1962+53_1962+68del	noncoding	Benign
8	41660439	A	AG	T41660442G	ANK1	NM_000037.4(ANK1):c.*36+989dup	noncoding	Benign
8	41694002	CGGTGGAACTTCCGGCGCCGG	C	T41694005C	ANK1	NM_000037.4(ANK1):c.3408_3427del:p.Arg1137fs	coding	Pathogenic
8	41714238	AG	A	G41714244T	ANK1	NM_000037.4(ANK1):c.1717del:p.Leu573fs	coding	Pathogenic
8	41715734	A	AG	T41715741G	ANK1	NM_000037.4(ANK1):c.1519dup:p.Leu507fs	coding	Pathogenic
8	41725833	CGCGATGTGCAGGGCCGGGAG	C	A41725837C	ANK1	NM_001142446.2(ANK1):c.619_638del:p.Leu207fs	coding	Pathogenic
8	41725838	TG	T	G41725839T	ANK1	NM_000037.4(ANK1):c.534del:p.His178fs	coding	Pathogenic
8	41797609	TCA	T	A41797611C	ANK1	NM_001142446.2(ANK1):c.127-39474_127-39473del	coding	Pathogenic
8	41932653	GA	G	A41932656T	KAT6A	NM_006766.5(KAT6A):c.5566del:p.Ser1856fs	coding	Pathogenic
8	41932664	CTTCACTGGCA	C	C41932667T	KAT6A	NM_006766.5(KAT6A):c.5546_5555del:p.Met1849fs	coding	Pathogenic
8	41933168	CTGCGGCTGCTGT	C	T41933180C	KAT6A	NM_006766.5(KAT6A):c.5040_5051del:p.1677_1680QQPQ[1]	coding	Benign/Likely_benign
8	41933846	ACT	A	C41933849G	KAT6A	NM_006766.5(KAT6A):c.4370_4371AG[1]:p.Ser1458fs	coding	Pathogenic
8	41933858	C	CT	G41933860T	KAT6A	NM_006766.5(KAT6A):c.4361dup:p.Thr1455fs	coding	Pathogenic
8	41933959	C	CCAGCT	C41933967G	KAT6A	NM_006766.5(KAT6A):c.4256_4260dup:p.Asp1421fs	coding	Pathogenic
8	41933962	GCTCA	G	C41933965A	KAT6A	NM_006766.5(KAT6A):c.4254_4257del:p.Glu1419fs	coding	Pathogenic
8	41933987	CTCTTT	C	C41933989A	KAT6A	NM_006766.5(KAT6A):c.4228_4232del:p.Lys1410fs	coding	Pathogenic
8	41934009	T	TC	T41934012C	KAT6A	NM_006766.5(KAT6A):c.4210dup:p.Glu1404fs	coding	Pathogenic
8	41934181	CA	C	A41934182C	KAT6A	NM_006766.5(KAT6A):c.4038del:p.Val1347fs	coding	Pathogenic/Likely_pathogenic
8	41934194	CT	C	T41934196G	KAT6A	NM_006766.5(KAT6A):c.4025del:p.Lys1342fs	coding	Pathogenic
8	41934340	C	CT	A41934342T	KAT6A	NM_006766.5(KAT6A):c.3879dup:p.Glu1294fs	coding	Pathogenic
8	41934437	AG	A	G41934439A	KAT6A	NM_006766.5(KAT6A):c.3782del:p.Pro1261fs	coding	Pathogenic
8	41934439	GA	G	A41934440C	KAT6A	NM_006766.5(KAT6A):c.3780del:p.Pro1261fs	coding	Pathogenic
8	41934527	TG	T	G41934528C	KAT6A	NM_006766.5(KAT6A):c.3692del:p.Ala1231fs	coding	Pathogenic
8	41934776	CT	C	T41934781C	KAT6A	NM_006766.5(KAT6A):c.3443del:p.Lys1148fs	coding	Pathogenic
8	41934787	G	GT	G41934789T	KAT6A	NM_006766.5(KAT6A):c.3432dup:p.Pro1145fs	coding	Pathogenic
8	41934807	AG	A	G41934808A	KAT6A	NM_006766.5(KAT6A):c.3412del:p.Glu1139fs	coding	Pathogenic
8	41934823	CAT	C	A41934824C	KAT6A	NM_006766.5(KAT6A):c.3395_3396del:p.Asp1132fs	coding	Pathogenic
8	41934866	G	GTCTA	A41934872C	KAT6A	NM_006766.5(KAT6A):c.3353-3_3353dup	coding	Pathogenic
8	41937278	ATCT	A	T41937287A	KAT6A	NM_006766.5(KAT6A):c.3321_3323AGA[2]:p.Glu1109del	coding	Benign
8	41937289	C	CAG	T41937291G	KAT6A	NM_006766.5(KAT6A):c.3318_3319insCT:p.Glu1107fs	coding	Pathogenic
8	41937301	TC	T	C41937303T	KAT6A	NM_006766.5(KAT6A):c.3306del:p.Lys1103fs	coding	Pathogenic
8	41937321	C	CA	C41937323A	KAT6A	NM_006766.5(KAT6A):c.3286dup:p.Cys1096fs	coding	Pathogenic
8	41937490	CAG	C	G41937492A	KAT6A	NM_006766.5(KAT6A):c.3116_3117del:p.Ile1038_Ser1039insTer	coding	Pathogenic
8	41943757	CG	C	G41943759A	KAT6A	NM_006766.5(KAT6A):c.2218del:p.Arg740fs	coding	Pathogenic/Likely_pathogenic
8	41943848	GC	G	C41943849T	KAT6A	NM_006766.5(KAT6A):c.2127del:p.Lys709fs	coding	Pathogenic
8	41946685	CTGGT	C	T41946686G	KAT6A	NM_006766.5(KAT6A):c.1903-5_1903-2del	noncoding	Pathogenic
8	41947865	CAA	C	A41947868G	KAT6A	NM_006766.5(KAT6A):c.1786_1787del:p.Leu596fs	coding	Pathogenic
8	41949298	TG	T	G41949299C	KAT6A	NM_006766.5(KAT6A):c.1663del:p.Gln555fs	coding	Pathogenic
8	41955357	C	CA	T41955360A	KAT6A	NM_006766.5(KAT6A):c.1536dup:p.Glu513Ter	coding	Pathogenic
8	41974709	G	GTGCT	T41974716C	KAT6A	NM_006766.5(KAT6A):c.1473_1476dup:p.Leu493fs	coding	Pathogenic
8	41974714	TGTTCTTG	T	T41974716A	KAT6A	NM_006766.5(KAT6A):c.1465_1471del:p.Gln489fs	coding	Pathogenic
8	41977194	AG	A	G41977195A	KAT6A	NM_006766.5(KAT6A):c.1176del:p.Cys393fs	coding	Pathogenic
8	41977281	T	TACCCC	T41977287A	KAT6A	NM_006766.5(KAT6A):c.1085_1089dup:p.Arg364fs	coding	Pathogenic
8	41980844	AC	A	C41980846T	KAT6A	NM_006766.5(KAT6A):c.907+1del	noncoding	Pathogenic
8	42318599	T	TG	C42318604G	IKBKB	NM_001556.3(IKBKB):c.1292dup:p.Gln432fs	coding	Pathogenic
8	42417930	CGGGA	C	G42417932C	SLC20A2	NM_001257180.2(SLC20A2):c.1828_1831del:p.Ser610fs	coding	Pathogenic
8	42459924	GAC	G	C42459926T	SLC20A2	NM_001257180.2(SLC20A2):c.583_584del:p.Val195fs	coding	Pathogenic
8	42463011	TA	T	A42463013G	SLC20A2	NM_001257180.2(SLC20A2):c.509del:p.Ile169_Leu170insTer	coding	Pathogenic
8	42463062	C	CA	C42463065A	SLC20A2	NM_001257180.2(SLC20A2):c.458dup:p.Leu153fs	coding	Pathogenic
8	42472291	CA	C	A42472294G	SLC20A2	NM_001257180.2(SLC20A2):c.99del:p.Phe33fs	coding	Pathogenic
8	42472336	T	TGAAA	C42472342A	SLC20A2	NM_001257180.2(SLC20A2):c.51_54dup:p.Ile19fs	coding	Pathogenic
8	42838129	GT	G	T42838134C	THAP1	NM_018105.3(THAP1):c.474del:p.Lys158fs	coding	Pathogenic
8	42838143	TG	T	G42838144T	THAP1	NM_018105.3(THAP1):c.460del:p.Gln154fs	coding	Pathogenic
8	42838213	C	CT	G42838215T	THAP1	NM_018105.3(THAP1):c.390dup:p.Val131fs	coding	Pathogenic
8	42838214	TGA	T	G42838219T	THAP1	NM_018105.3(THAP1):c.384_385TC[2]:p.Val131fs	coding	Pathogenic
8	42838298	T	TG	A42838304G	THAP1	NM_018105.3(THAP1):c.305dup:p.Pro103fs	coding	Pathogenic
8	42838330	CTTCT	C	T42838335A	THAP1	NM_018105.2(THAP1):c.270_273delAGAA:p.Glu91Ilefs	coding	Pathogenic/Likely_pathogenic
8	42839243	CTTG	C	T42839250C	THAP1	NM_018105.3(THAP1):c.201_203CAA[2]:p.Asn69del	coding	Pathogenic
8	42839254	ACT	A	C42839261T	THAP1	NM_018105.3(THAP1):c.191_192AG[3]:p.Glu66fs	coding	Pathogenic
8	42839314	GTTTA	TAAACCC	G42839314T	THAP1	NM_018105.3(THAP1):c.135_139delinsGGGTTTA:p.Phe45fs	coding	Pathogenic
8	42839321	GT	G	T42839327C	THAP1	NM_018105.3(THAP1):c.131del:p.Asn44fs	coding	Pathogenic
8	42839340	GC	G	C42839342T	THAP1	NM_018105.3(THAP1):c.112del:p.Ala38fs	coding	Pathogenic
8	42843023	CT	C	T42843025G	THAP1	NM_018105.3(THAP1):c.71del:p.Lys24fs	coding	Pathogenic
8	43097519	TAAAG	T	G43097523A	POMK	NM_032237.5(POMK):c.-209-1_-207del	noncoding	Benign
8	43103585	G	GC	G43103592C	POMK	NM_032237.5(POMK):c.43dup:p.Arg15fs	coding	Pathogenic/Likely_pathogenic
8	43103784	CAG	C	G43103786A	POMK	NM_032237.5(POMK):c.238_239del:p.Glu80fs	coding	Pathogenic
8	43122109	CT	C	T43122112C	POMK	NM_032237.5(POMK):c.288del:p.Leu97fs	coding	Pathogenic
8	43122738	A	AT	G43122742T	POMK	NM_032237.5(POMK):c.917dup:p.Leu306fs	coding	Pathogenic
8	43140606	CG	C	G43140607C	HGSNAT	NM_152419.3(HGSNAT):c.111del:p.Pro38fs	coding	Pathogenic
8	43146978	AG	A	G43146979A	HGSNAT	NM_152419.3(HGSNAT):c.150del:p.Met51fs	coding	Pathogenic
8	43161468	C	CT	G43161470T	HGSNAT	NM_152419.3(HGSNAT):c.525dup:p.Val176fs	coding	Pathogenic
8	43170689	CA	C	A43170690G	HGSNAT	NM_152419.3(HGSNAT):c.739del:p.Arg247fs	coding	Pathogenic
8	43192319	T	TG	C43192325G	HGSNAT	NM_152419.3(HGSNAT):c.1271dup:p.Ile425fs	coding	Pathogenic
8	43193814	T	TC	A43193817C	HGSNAT	NM_152419.3(HGSNAT):c.1437dup:p.Ile480fs	coding	Pathogenic
8	43197932	GA	G	A43197934C	HGSNAT	NM_152419.3(HGSNAT):c.1708del:p.Thr570fs	coding	Pathogenic
8	47819513	TAAA	T	A47819532G	PRKDC	NM_006904.7(PRKDC):c.9337-6_9337-4del	noncoding	Benign
8	47858853	TCTC	T	C47858856T	PRKDC	NM_006904.6(PRKDC):c.6338_6340del:p.Gly2113del	coding	Benign
8	47889230	AGATT	A	A47889232T	PRKDC	NM_006904.7(PRKDC):c.4072-12_4072-9del	noncoding	Benign
8	47927900	AAAG	A	A47927905C	PRKDC	NM_006904.7(PRKDC):c.2140-13_2140-11del	noncoding	Benign
8	47931496	G	GT	A47931511T	PRKDC	NM_006904.6(PRKDC):c.1777-723dup	noncoding	Pathogenic
8	47957437	C	CA	T47957445A	PRKDC	NM_006904.7(PRKDC):c.155-13dup	noncoding	Benign
8	51372094	C	CA	C51372105A	PXDNL	NM_144651.5(PXDNL):c.3693-23dup	noncoding	Benign
8	51457566	CA	C	A51457567C	PXDNL	NM_144651.5(PXDNL):c.913del:p.Cys305fs	coding	Benign
8	54459238	AGGCGGCCGCGCTGGGCCCCGAG	A	C54459249T	SOX17	NM_022454.4(SOX17):c.499_520del:p.Leu167fs	coding	Pathogenic
8	54621100	A	AC	A54621106C	RP1	NM_006269.2(RP1):c.139dup:p.Gln47fs	coding	Pathogenic
8	54621235	AC	A	C54621236A	RP1	NM_006269.2(RP1):c.270del:p.His90fs	coding	Pathogenic
8	54621236	CA	C	A54621237G	RP1	NM_006269.2(RP1):c.271del:p.Ser91fs	coding	Pathogenic
8	54621331	G	GGC	C54621336G	RP1	NM_006269.2(RP1):c.366_367GC[3]:p.Pro124fs	coding	Pathogenic
8	54621393	GC	G	C54621395G	RP1	NM_006269.2(RP1):c.429del:p.Val144fs	coding	Pathogenic
8	54621418	G	GC	A54621425C	RP1	NM_006269.2(RP1):c.458dup:p.Arg154fs	coding	Pathogenic
8	54622162	GC	G	C54622163G	RP1	NM_006269.2(RP1):c.662del:p.Ala221fs	coding	Pathogenic
8	54622167	AG	A	G54622169A	RP1	NM_006269.2(RP1):c.668del:p.Gly223fs	coding	Pathogenic/Likely_pathogenic
8	54624678	CAT	C	A54624681G	RP1	NM_006269.2(RP1):c.797_798AT[1]:p.Met267fs	coding	Pathogenic
8	54625113	C	CA	T54625117A	RP1	NM_006269.2(RP1):c.1234dup:p.Met412fs	coding	Pathogenic
8	54625146	T	TC	T54625148C	RP1	NM_006269.2(RP1):c.1265dup:p.Ala423fs	coding	Pathogenic
8	54625339	G	GTGAA	G54625344T	RP1	NM_006269.2(RP1):c.1458_1461dup:p.Glu488Ter	coding	Pathogenic
8	54625598	TAACTC	T	C54625601T	RP1	NM_006269.2(RP1):c.1719_1723del:p.Ser574fs	coding	Pathogenic/Likely_pathogenic
8	54625924	T	AA	T54625924A	RP1	NM_006269.2(RP1):c.2042delinsAA:p.Ile681fs	coding	Pathogenic
8	54625984	GAATA	G	T54625987C	RP1	NM_006269.2(RP1):c.2105_2108del:p.Ile702fs	coding	Pathogenic
8	54625987	TA	T	A54625990C	RP1	NM_006269.2(RP1):c.2108del:p.Asn703fs	coding	Pathogenic
8	54626039	TC	T	C54626043T	RP1	NM_006269.2(RP1):c.2161del:p.Gly723fs	coding	Pathogenic/Likely_pathogenic
8	54626049	GGAGGGATACTTTGT	G	G54626054A	RP1	NM_006269.2(RP1):c.2172_2185del:p.Ile725fs	coding	Pathogenic
8	54626062	GT	AA	G54626062A	RP1	NM_006269.2(RP1):c.2180_2181delinsAA:p.Cys727Ter	coding	Pathogenic
8	54626078	GA	G	A54626082G	RP1	NM_006269.2(RP1):c.2200del:p.Ser734fs	coding	Pathogenic
8	54626087	T	TA	C54626089A	RP1	NM_006269.2(RP1):c.2206dup:p.Thr736fs	coding	Pathogenic
8	54626161	ATAAAT	A	T54626167A	RP1	NM_006269.2(RP1):c.2280_2284TAAAT[1]:p.Leu762fs	coding	Pathogenic
8	54626166	TTAAA	T	A54626169C	RP1	NM_006269.2(RP1):c.2287_2290del:p.Asn763fs	coding	Pathogenic
8	54626190	GT	G	T54626192C	RP1	NM_006269.2(RP1):c.2310del:p.Gln771fs	coding	Pathogenic
8	54626216	AT	A	T54626217C	RP1	NM_006269.2(RP1):c.2335del:p.Ser779fs	coding	Pathogenic
8	54626227	T	TA	T54626231A	RP1	NM_006269.2(RP1):c.2348dup:p.Asn783fs	coding	Pathogenic
8	54626476	CTT	C	T54626478A	RP1	NM_006269.2(RP1):c.2596_2597del:p.Leu866fs	coding	Pathogenic
8	54626489	G	GA	C54626496A	RP1	NM_006269.2(RP1):c.2613dup:p.Arg872fs	coding	Pathogenic/Likely_pathogenic
8	54626557	CA	C	A54626560T	RP1	NM_006269.2(RP1):c.2678del:p.Asn893fs	coding	Pathogenic
8	54626571	TCTTTGA	T	C54626572A	RP1	NM_006269.2(RP1):c.2690_2695del:p.Ser897_Lys899delinsTer	coding	Pathogenic
8	54626576	G	GA	C54626583A	RP1	NM_006269.2(RP1):c.2700dup:p.Pro901fs	coding	Pathogenic/Likely_pathogenic
8	54626627	T	AA	T54626627A	RP1	NM_006269.2(RP1):c.2745delinsAA:p.Tyr915Ter	coding	Pathogenic
8	54626647	AC	A	C54626648A	RP1	NM_006269.2(RP1):c.2766del:p.Asn922fs	coding	Pathogenic
8	54626834	TAATC	T	A54626835T	RP1	NM_006269.2(RP1):c.2953_2956del:p.Asn985fs	coding	Pathogenic
8	54627036	GT	G	T54627039A	RP1	NM_006269.2(RP1):c.3157del:p.Tyr1053fs	coding	Pathogenic
8	54627298	AG	A	G54627301A	RP1	NM_006269.2(RP1):c.3419del:p.Gly1140fs	coding	Pathogenic
8	54627308	GA	G	A54627310T	RP1	NM_006269.2(RP1):c.3428del:p.Asn1143fs	coding	Pathogenic
8	54627419	G	GAAAGCTGAGA	C54627427A	RP1	NM_006269.2(RP1):c.3544_3545insAGAAAAGCTG:p.Ala1182fs	coding	Pathogenic
8	54627511	CA	C	A54627514T	RP1	NM_006269.2(RP1):c.3632del:p.Asn1211fs	coding	Pathogenic
8	54627558	A	AAT	G54627561A	RP1	NM_006269.2(RP1):c.3677_3678dup:p.Glu1227fs	coding	Pathogenic
8	54627570	CA	C	A54627572G	RP1	NM_006269.2(RP1):c.3690del:p.Gly1231fs	coding	Pathogenic/Likely_pathogenic
8	54627615	TG	T	G54627616T	RP1	NM_006269.2(RP1):c.3734del:p.Cys1245fs	coding	Pathogenic
8	54627718	CT	C	T54627725C	RP1	NM_006269.2(RP1):c.3843del:p.Pro1282fs	coding	Pathogenic
8	54627974	AG	A	G54627976T	RP1	NM_006269.2(RP1):c.4094del:p.Gly1365fs	coding	Pathogenic
8	54628097	AAAAG	A	A54628100G	RP1	NM_006269.2(RP1):c.4218_4221del:p.Glu1407fs	coding	Pathogenic
8	54628122	CAT	C	T54628124G	RP1	NM_006269.2(RP1):c.4242_4243del:p.His1414fs	coding	Pathogenic
8	54628431	GA	G	A54628437G	RP1	NM_006269.2(RP1):c.4555del:p.Arg1519fs	coding	Pathogenic
8	54628618	T	TA	T54628626A	RP1	NM_006269.2(RP1):c.4743dup:p.Cys1582fs	coding	Pathogenic
8	54628896	CT	C	T54628899A	RP1	NM_006269.2(RP1):c.5017del:p.Tyr1673fs	coding	Pathogenic/Likely_pathogenic
8	54628983	CAAGAT	C	A54628987T	RP1	NM_006269.2(RP1):c.5105_5109del:p.Asp1702fs	coding	Pathogenic
8	54629079	AC	A	C54629080A	RP1	NM_006269.2(RP1):c.5198del:p.Thr1733fs	coding	Pathogenic
8	54629440	AGGAGAAG	A	A54629443T	RP1	NM_006269.2(RP1):c.5561_5567del:p.Glu1854fs	coding	Pathogenic
8	54629455	ATCAG	A	T54629460A	RP1	NM_006269.2(RP1):c.5578_5581del:p.Ser1860fs	coding	Pathogenic
8	54629655	A	AT	C54629657T	RP1	NM_006269.2(RP1):c.5774dup:p.Gln1926fs	coding	Pathogenic
8	54629843	T	TA	T54629845A	RP1	NM_006269.2(RP1):c.5962dup:p.Ile1988fs	coding	Pathogenic/Likely_pathogenic
8	54629973	AG	TA	A54629973T	RP1	NM_006269.2(RP1):c.6091_6092delinsTA:p.Arg2031Ter	coding	Pathogenic
8	54630005	GT	G	T54630007A	RP1	NM_006269.2(RP1):c.6125del:p.Leu2041_Leu2042insTer	coding	Pathogenic
8	56166382	TG	T	G56166385A	PLAG1	NM_002655.3(PLAG1):c.1363del:p.Gln455fs	coding	Pathogenic
8	56167306	CT	C	T56167308G	PLAG1	NM_002655.3(PLAG1):c.439del:p.Ser147fs	coding	Pathogenic
8	56993261	CG	C	G56993262C	BPNT2	NM_017813.5(BPNT2):c.324del:p.Ser108fs	coding	Pathogenic
8	58601546	G	GAAA	T58601561A	NSMAF	NM_003580.4(NSMAF):c.1126-25_1126-23dup	noncoding	Benign
8	58851809	CAATAAATA	C	A58851842G	TOX	NM_014729.3(TOX):c.412-44TATT[8]	noncoding	Benign
8	60741457	CTT	C	T60741461G	CHD7	NM_017780.4(CHD7):c.29_30del:p.Phe10fs	coding	Pathogenic
8	60741618	TCAAA	T	C60741623G	CHD7	NM_017780.4(CHD7):c.187_190CAAA[1]:p.Thr64fs	coding	Pathogenic
8	60741635	AT	A	T60741639G	CHD7	NM_017780.4(CHD7):c.207del:p.Phe69fs	coding	Pathogenic
8	60741709	AC	A	C60741713T	CHD7	NM_017780.4(CHD7):c.281del:p.Pro94fs	coding	Pathogenic
8	60741713	CT	C	T60741714G	CHD7	NM_017780.4(CHD7):c.282del:p.Asn96fs	coding	Pathogenic
8	60741809	AC	A	C60741812T	CHD7	NM_017780.4(CHD7):c.380del:p.Pro127fs	coding	Pathogenic
8	60741909	CT	C	T60741910A	CHD7	NM_017780.4(CHD7):c.478del:p.Tyr160fs	coding	Pathogenic
8	60741956	C	CG	C60741961G	CHD7	NM_017780.4(CHD7):c.528dup:p.Pro177fs	coding	Pathogenic
8	60741988	A	ATG	C60741991T	CHD7	NM_017780.4(CHD7):c.557_558dup:p.Gln187fs	coding	Pathogenic
8	60742066	CA	C	A60742067G	CHD7	NM_017780.4(CHD7):c.635del:p.Gln212fs	coding	Pathogenic
8	60742146	GC	G	C60742150A	CHD7	NM_017780.4(CHD7):c.718del:p.Gln240fs	coding	Pathogenic
8	60742237	GT	G	T60742239G	CHD7	NM_017780.4(CHD7):c.807del:p.Ala270fs	coding	Pathogenic
8	60742346	ACAACT	A	A60742349G	CHD7	NM_017780.4(CHD7):c.917_921del:p.Asn306fs	coding	Pathogenic
8	60742393	GG	TA	G60742393T	CHD7	NM_017780.4(CHD7):c.961_962delinsTA:p.Gly321Ter	coding	Pathogenic
8	60742488	AT	A	T60742490C	CHD7	NM_017780.4(CHD7):c.1058del:p.Phe353fs	coding	Pathogenic
8	60742503	TG	T	G60742505T	CHD7	NM_017780.4(CHD7):c.1073del:p.Gly358fs	coding	Pathogenic
8	60742652	GCACTCCTCCTC	G	T60742656A	CHD7	NM_017780.4(CHD7):c.1224_1234del:p.Pro409fs	coding	Pathogenic
8	60742697	TG	T	G60742699A	CHD7	NM_017780.4(CHD7):c.1267del:p.Glu423fs	coding	Pathogenic
8	60742722	GC	G	C60742726A	CHD7	NM_017780.4(CHD7):c.1294del:p.His432fs	coding	Pathogenic
8	60742771	CAG	C	A60742774G	CHD7	NM_017780.4(CHD7):c.1340_1341AG[1]:p.Arg448fs	coding	Pathogenic/Likely_pathogenic
8	60742919	T	TA	C60742921A	CHD7	NM_017780.4(CHD7):c.1488dup:p.Pro497fs	coding	Pathogenic
8	60742935	TC	T	C60742937T	CHD7	NM_017780.4(CHD7):c.1505del:p.Pro502fs	coding	Pathogenic
8	60781010	C	CG	A60781013G	CHD7	NM_017780.4(CHD7):c.1678dup:p.Glu560fs	coding	Pathogenic
8	60781130	AG	A	G60781131A	CHD7	NM_017780.4(CHD7):c.1797del:p.Lys601fs	coding	Pathogenic
8	60781133	AAAAG	A	G60781137A	CHD7	NM_017780.4(CHD7):c.1803_1806del:p.Lys602fs	coding	Pathogenic
8	60781137	G	GA	C60781143A	CHD7	NM_017780.4(CHD7):c.1808dup:p.Asn603fs	coding	Pathogenic
8	60781252	GA	G	A60781259G	CHD7	NM_017780.4(CHD7):c.1925del:p.Lys642fs	coding	Pathogenic
8	60781284	AAAAG	A	A60781286C	CHD7	NM_017780.4(CHD7):c.1952_1955del:p.Lys651fs	coding	Pathogenic
8	60781285	AA	T	A60781285T	CHD7	NM_001316690.1(CHD7):c.1716+235_1716+236delinsT	coding	Pathogenic
8	60781383	GA	G	A60781386G	CHD7	NM_017780.4(CHD7):c.2052del:p.Ala685fs	coding	Pathogenic
8	60781383	G	GAAAGCA	A60781393G	CHD7	NM_017780.4(CHD7):c.2053_2058dup:p.Ala685_Lys686dup	coding	Benign/Likely_benign
8	60781387	G	GGCAAAA	C60781388G	CHD7	NM_017780.4(CHD7):c.2053_2054insGCAAAA:p.Ala685delinsGlyLysThr	coding	Benign
8	60781419	CA	C	A60781424G	CHD7	NM_017780.4(CHD7):c.2090del:p.Lys697fs	coding	Pathogenic
8	60795056	GA	G	A60795060T	CHD7	NM_017780.4(CHD7):c.2171del:p.Asn724fs	coding	Pathogenic
8	60795067	C	CCTAA	T60795068C	CHD7	NM_017780.4(CHD7):c.2178_2179insCTAA:p.Asp728fs	coding	Pathogenic
8	60795079	A	AC	A60795085C	CHD7	NM_017780.4(CHD7):c.2195dup:p.Pro733fs	coding	Pathogenic
8	60795118	A	ACC	G60795119C	CHD7	NM_017780.4(CHD7):c.2229_2230insCC:p.Gly744fs	coding	Pathogenic
8	60800443	TC	T	C60800444A	CHD7	NM_017780.4(CHD7):c.2295del:p.Phe765fs	coding	Pathogenic
8	60800493	TC	T	C60800498T	CHD7	NM_017780.4(CHD7):c.2349del:p.Ser784fs	coding	Pathogenic
8	60801516	C	CT	A60801526T	CHD7	NM_017780.4(CHD7):c.2377-3dup	noncoding	Benign/Likely_benign
8	60801532	CTG	C	G60801534T	CHD7	NM_017780.4(CHD7):c.2383_2384del:p.Ser794_Val795insTer	coding	Pathogenic
8	60801539	T	TG	C60801541G	CHD7	NM_017780.4(CHD7):c.2389dup:p.Ala797fs	coding	Pathogenic
8	60801558	G	GA	T60801565A	CHD7	NM_017780.4(CHD7):c.2413dup:p.Ile805fs	coding	Pathogenic
8	60808224	CTGGAGAGGAGG	C	G60808226A	CHD7	NM_017780.4(CHD7):c.2452_2462del:p.Gly818fs	coding	Pathogenic
8	60816387	C	CTCTTATCT	A60816398T	CHD7	NM_017780.4(CHD7):c.2502_2509dup:p.His837fs	coding	Pathogenic
8	60816387	CTCTTA	C	A60816392C	CHD7	NM_017780.4(CHD7):c.2504_2508del:p.Tyr835fs	coding	Pathogenic
8	60816454	AT	A	T60816456A	CHD7	NM_017780.4(CHD7):c.2568del:p.Lys857fs	coding	Pathogenic
8	60816496	T	TC	A60816498C	CHD7	NM_017780.4(CHD7):c.2609dup:p.Glu871fs	coding	Pathogenic
8	60819983	CT	C	T60819993C	CHD7	NM_017780.4(CHD7):c.2614-14del	noncoding	Benign/Likely_benign
8	60820034	T	TA	T60820036A	CHD7	NM_017780.4(CHD7):c.2642dup:p.Tyr881Ter	coding	Pathogenic
8	60821791	CT	C	T60821792G	CHD7	NM_017780.4(CHD7):c.2700del:p.Pro900_Val901insTer	coding	Pathogenic
8	60821801	C	CT	A60821803T	CHD7	NM_017780.4(CHD7):c.2710dup:p.Tyr904fs	coding	Pathogenic
8	60821857	A	AG	A60821860G	CHD7	NM_017780.4(CHD7):c.2767dup:p.Asp923fs	coding	Pathogenic
8	60822032	TC	T	C60822034T	CHD7	NM_017780.4(CHD7):c.2846del:p.Pro949fs	coding	Pathogenic
8	60822035	TG	T	G60822036C	CHD7	NM_017780.4(CHD7):c.2848del:p.Ala950fs	coding	Pathogenic
8	60822054	TC	T	C60822055G	CHD7	NM_017780.4(CHD7):c.2867del:p.Ser956fs	coding	Pathogenic
8	60822092	CAG	C	A60822093G	CHD7	NM_017780.4(CHD7):c.2905_2906del:p.Arg969fs	coding	Pathogenic
8	60822106	TGGAG	T	G60822111T	CHD7	NM_017780.4(CHD7):c.2919_2922GGAG[1]:p.Glu974_Gly975insTer	coding	Pathogenic
8	60822532	GT	G	T60822535G	CHD7	NM_017780.4(CHD7):c.2990del:p.Leu997fs	coding	Pathogenic
8	60822609	A	ATT	G60822612T	CHD7	NM_017780.4(CHD7):c.3065_3066dup:p.Ala1023fs	coding	Pathogenic
8	60822612	G	GC	A60822617C	CHD7	NM_017780.4(CHD7):c.3071dup:p.Leu1025fs	coding	Pathogenic
8	60822673	TG	T	G60822675T	CHD7	NM_017780.4(CHD7):c.3130del:p.Val1044fs	coding	Pathogenic
8	60823846	GT	G	T60823847G	CHD7	NM_017780.4(CHD7):c.3209del:p.Val1070fs	coding	Pathogenic/Likely_pathogenic
8	60823859	C	CA	C60823860A	CHD7	NM_017780.4(CHD7):c.3221_3222insA:p.Tyr1075fs	coding	Pathogenic
8	60823991	TGGAG	T	G60823995C	CHD7	NM_017780.4(CHD7):c.3357_3360del:p.Glu1119fs	coding	Pathogenic
8	60824004	G	GAT	G60824007A	CHD7	NM_017780.4(CHD7):c.3367_3368dup:p.Met1123fs	coding	Pathogenic
8	60828697	AGAACACTGTGGAAGAAC	A	G60828698T	CHD7	NM_017780.4(CHD7):c.3414_3430del:p.Gln1138fs	coding	Pathogenic
8	60828751	TC	T	C60828754T	CHD7	NM_017780.4(CHD7):c.3470del:p.Pro1157fs	coding	Pathogenic
8	60828796	CAG	C	G60828798A	CHD7	NM_017780.4(CHD7):c.3514_3515del:p.Glu1172fs	coding	Pathogenic
8	60830369	CAA	C	A60830371G	CHD7	NM_017780.4(CHD7):c.3572_3573del:p.Lys1191fs	coding	Pathogenic
8	60830373	GAGGATGT	G	G60830376A	CHD7	NM_017780.4(CHD7):c.3577_3583del:p.Asp1193fs	coding	Pathogenic
8	60830403	G	GAAGAAACTATT	T60830416A	CHD7	NM_017780.4(CHD7):c.3606_3616dup:p.Ile1206fs	coding	Pathogenic/Likely_pathogenic
8	60830471	G	GA	T60830474A	CHD7	NM_017780.4(CHD7):c.3674dup:p.Asn1225fs	coding	Pathogenic
8	60830476	TC	T	C60830477A	CHD7	NM_017780.4(CHD7):c.3678del:p.Phe1226fs	coding	Pathogenic
8	60836098	GT	G	T60836101A	CHD7	NM_017780.4(CHD7):c.3807del:p.Phe1269fs	coding	Pathogenic
8	60836101	TAAAG	T	G60836105C	CHD7	NM_017780.4(CHD7):c.3811_3814del:p.Glu1271fs	coding	Pathogenic
8	60836198	C	CTG	A60836201T	CHD7	NM_017780.4(CHD7):c.3905_3906dup:p.Lys1303Ter	coding	Pathogenic
8	60836227	CT	C	T60836231C	CHD7	NM_017780.4(CHD7):c.3937del:p.Ser1313fs	coding	Pathogenic
8	60836257	AC	A	C60836258T	CHD7	NM_017780.4(CHD7):c.3964del:p.Leu1322fs	coding	Pathogenic
8	60836825	AT	A	T60836826G	CHD7	NM_017780.4(CHD7):c.3999del:p.Pro1332_Tyr1333insTer	coding	Pathogenic
8	60837683	CAT	C	T60837685G	CHD7	NM_017780.4(CHD7):c.4203_4204del:p.His1401fs	coding	Pathogenic
8	60837776	CTG	C	T60837777G	CHD7	NM_017780.4(CHD7):c.4295_4296del:p.Leu1432fs	coding	Pathogenic
8	60838099	AAT	A	T60838101G	CHD7	NM_017780.4(CHD7):c.4379_4380del:p.Ile1460fs	coding	Pathogenic
8	60838145	GA	G	A60838146G	CHD7	NM_017780.4(CHD7):c.4424del:p.Glu1475fs	coding	Pathogenic
8	60838214	A	AT	A60838217T	CHD7	NM_017780.4(CHD7):c.4494dup:p.Thr1499fs	coding	Pathogenic
8	60841742	CT	C	T60841744A	CHD7	NM_017780.4(CHD7):c.4634del:p.Ala1544_Leu1545insTer	coding	Pathogenic
8	60841853	CT	C	T60841854G	CHD7	NM_017780.4(CHD7):c.4652del:p.Leu1551fs	coding	Pathogenic
8	60841863	AT	A	T60841864A	CHD7	NM_017780.4(CHD7):c.4662del:p.Asp1554fs	coding	Pathogenic
8	60842035	GA	G	A60842037T	CHD7	NM_017780.4(CHD7):c.4835del:p.Asn1612fs	coding	Pathogenic/Likely_pathogenic
8	60842037	ATC	A	C60842039G	CHD7	NM_017780.4(CHD7):c.4837_4838del:p.Leu1613fs	coding	Pathogenic
8	60844927	TG	T	G60844928T	CHD7	NM_017780.4(CHD7):c.4915del:p.Asp1638_Val1639insTer	coding	Pathogenic
8	60844954	GGT	G	G60844957A	CHD7	NM_017780.4(CHD7):c.4942_4943GT[1]:p.Tyr1649fs	coding	Pathogenic
8	60844973	TA	T	A60844974C	CHD7	NM_017780.4(CHD7):c.4961del:p.Tyr1654fs	coding	Pathogenic
8	60845055	AC	A	C60845057A	CHD7	NM_017780.4(CHD7):c.5044del:p.His1682fs	coding	Pathogenic
8	60845297	GC	G	C60845300A	CHD7	NM_017780.4(CHD7):c.5101del:p.Gln1701fs	coding	Pathogenic
8	60845311	G	GC	G60845314C	CHD7	NM_017780.4(CHD7):c.5114dup:p.Val1706fs	coding	Pathogenic
8	60845364	T	TC	A60845367C	CHD7	NM_017780.4(CHD7):c.5167dup:p.Gln1723fs	coding	Pathogenic
8	60845376	GCTACAAGAAACAC	T	G60845376T	CHD7	NM_017780.4(CHD7):c.5177_5190delinsT:p.Ser1726fs	coding	Pathogenic
8	60845397	A	AT	C60845399T	CHD7	NM_017780.4(CHD7):c.5199dup:p.His1734fs	coding	Pathogenic
8	60848537	C	CTG	A60848541G	CHD7	NM_017780.4(CHD7):c.5235_5236dup:p.Tyr1746fs	coding	Pathogenic
8	60849077	CT	C	T60849080C	CHD7	NM_017780.4(CHD7):c.5330del:p.Phe1777fs	coding	Pathogenic
8	60851290	A	AG	A60851293G	CHD7	NM_017780.4(CHD7):c.5638dup:p.Glu1880fs	coding	Pathogenic
8	60852029	T	TGA	T60852035A	CHD7	NM_017780.4(CHD7):c.5678_5679AG[3]:p.Ser1894fs	coding	Pathogenic
8	60852104	T	TA	C60852106A	CHD7	NM_017780.4(CHD7):c.5752dup:p.Thr1918fs	coding	Pathogenic
8	60852515	A	AG	C60852518G	CHD7	NM_017780.4(CHD7):c.5914dup:p.Ala1972fs	coding	Pathogenic
8	60852533	TG	T	G60852535T	CHD7	NM_017780.4(CHD7):c.5932del:p.Val1978fs	coding	Pathogenic
8	60852560	AC	A	C60852563T	CHD7	NM_017780.4(CHD7):c.5960del:p.Pro1987fs	coding	Pathogenic
8	60852615	C	CA	T60852622A	CHD7	NM_017780.4(CHD7):c.6018dup:p.Ser2007fs	coding	Pathogenic
8	60852687	GC	G	C60852690G	CHD7	NM_017780.4(CHD7):c.6087del:p.Val2030fs	coding	Pathogenic
8	60852828	GA	G	A60852830C	CHD7	NM_017780.4(CHD7):c.6105del:p.Glu2035fs	coding	Pathogenic
8	60852838	ACCTCTCC	A	C60852839T	CHD7	NM_017780.4(CHD7):c.6114_6120del:p.Leu2039fs	coding	Pathogenic
8	60852865	CAG	C	A60852868G	CHD7	NM_017780.4(CHD7):c.6141_6142AG[1]:p.Glu2048fs	coding	Pathogenic
8	60852885	ACT	A	C60852888G	CHD7	NM_017780.4(CHD7):c.6161_6162CT[1]:p.Leu2055fs	coding	Pathogenic
8	60852888	CTG	C	G60852890A	CHD7	NM_017780.4(CHD7):c.6165_6166del:p.Tyr2056fs	coding	Pathogenic
8	60853015	AC	A	C60853017G	CHD7	NM_017780.4(CHD7):c.6292del:p.Arg2098fs	coding	Pathogenic
8	60853122	CA	C	A60853126C	CHD7	NM_017780.4(CHD7):c.6401del:p.Asn2134fs	coding	Pathogenic
8	60853169	TG	T	G60853171A	CHD7	NM_017780.4(CHD7):c.6446del:p.Gly2149fs	coding	Pathogenic
8	60853197	TC	T	C60853198A	CHD7	NM_017780.4(CHD7):c.6473del:p.Ser2158fs	coding	Pathogenic
8	60853249	TG	T	G60853251A	CHD7	NM_017780.4(CHD7):c.6526del:p.Glu2176fs	coding	Pathogenic
8	60853470	GA	G	A60853471T	CHD7	NM_017780.4(CHD7):c.6746del:p.Asp2249fs	coding	Pathogenic
8	60853477	CG	C	G60853479A	CHD7	NM_017780.4(CHD7):c.6754del:p.Glu2252fs	coding	Pathogenic
8	60854367	AG	A	G60854368C	CHD7	NM_017780.4(CHD7):c.6781del:p.Ala2261fs	coding	Pathogenic
8	60854403	CAA	C	A60854404T	CHD7	NM_017780.4(CHD7):c.6817_6818del:p.Asn2273fs	coding	Pathogenic
8	60854410	T	TC	A60854413C	CHD7	NM_017780.4(CHD7):c.6825dup:p.Met2276fs	coding	Pathogenic
8	60854428	G	GTA	A60854429T	CHD7	NM_017780.4(CHD7):c.6841_6842insTA:p.Asp2281fs	coding	Pathogenic
8	60854474	TAG	T	A60854475C	CHD7	NM_017780.4(CHD7):c.6888_6889del:p.Ala2297fs	coding	Pathogenic
8	60856025	AG	A	G60856027C	CHD7	NM_017780.4(CHD7):c.6989del:p.Gly2330fs	coding	Pathogenic
8	60856027	GC	CT	G60856027C	CHD7	NM_017780.4(CHD7):c.6989_6990delinsCT:p.Gly2330Ala	coding	Benign/Likely_benign
8	60856031	A	AT	G60856033T	CHD7	NM_017780.4(CHD7):c.6994dup:p.Trp2332fs	coding	Pathogenic
8	60856160	TA	T	A60856161G	CHD7	NM_017780.4(CHD7):c.7123del:p.Ser2375fs	coding	Pathogenic
8	60856182	A	AC	G60856184C	CHD7	NM_017780.4(CHD7):c.7145dup:p.Ser2383fs	coding	Pathogenic
8	60856459	CCT	C	C60856464G	CHD7	NM_017780.4(CHD7):c.7180_7181CT[2]:p.Ser2395fs	coding	Pathogenic
8	60856553	GC	G	C60856556A	CHD7	NM_017780.4(CHD7):c.7276del:p.Gln2426fs	coding	Pathogenic
8	60856559	C	CT	C60856562T	CHD7	NM_017780.4(CHD7):c.7281dup:p.Arg2428fs	coding	Pathogenic
8	60856561	T	TC	G60856563C	CHD7	NM_017780.4(CHD7):c.7282dup:p.Arg2428fs	coding	Pathogenic
8	60856562	CGA	C	A60856566T	CHD7	NM_017780.4(CHD7):c.7286_7287del:p.Glu2429fs	coding	Pathogenic
8	60856575	TG	T	G60856577T	CHD7	NM_017780.4(CHD7):c.7297del:p.Val2433fs	coding	Pathogenic
8	60856623	CAA	C	A60856624G	CHD7	NM_017780.4(CHD7):c.7344_7345del:p.Glu2450fs	coding	Pathogenic
8	60856635	C	CAA	G60856638A	CHD7	NM_017780.4(CHD7):c.7356_7357dup:p.Ser2453fs	coding	Pathogenic
8	60856659	CTCTT	C	T60856664C	CHD7	NM_017780.4(CHD7):c.7380_7383TCTT[1]:p.Ser2462fs	coding	Pathogenic
8	60856801	TC	T	C60856804A	CHD7	NM_017780.4(CHD7):c.7524del:p.Pro2508_Met2509insTer	coding	Pathogenic
8	60856817	C	CGG	A60856822G	CHD7	NM_017780.4(CHD7):c.7540_7541dup:p.Arg2515fs	coding	Pathogenic
8	60860921	CA	C	A60860924G	CHD7	NM_017780.4(CHD7):c.7629del:p.Ala2544fs	coding	Pathogenic
8	60860932	AAGAAGATATAG	A	A60860936C	CHD7	NM_017780.4(CHD7):c.7641_7651del:p.Glu2547fs	coding	Pathogenic
8	60860941	T	TA	G60860943A	CHD7	NM_017780.4(CHD7):c.7647dup:p.Glu2550fs	coding	Pathogenic
8	60860946	A	AC	A60860951C	CHD7	NM_017780.4(CHD7):c.7655dup:p.Pro2553fs	coding	Pathogenic
8	60860956	CA	C	A60860958G	CHD7	NM_017780.4(CHD7):c.7663del:p.Arg2555fs	coding	Pathogenic
8	60860991	GAC	G	A60860996G	CHD7	NM_017780.4(CHD7):c.7701_7702del:p.Arg2568fs	coding	Pathogenic
8	60861058	AT	A	T60861059A	CHD7	NM_017780.4(CHD7):c.7764del:p.Asn2588fs	coding	Pathogenic
8	60861096	T	TA	C60861098A	CHD7	NM_017780.4(CHD7):c.7802dup:p.Tyr2601Ter	coding	Pathogenic
8	60861114	AG	A	G60861115T	CHD7	NM_017780.4(CHD7):c.7820del:p.Ser2607fs	coding	Pathogenic
8	60862204	AG	A	G60862205A	CHD7	NM_017780.4(CHD7):c.7840del:p.Asp2614fs	coding	Pathogenic
8	60862303	G	GGT	C60862307T	CHD7	NM_017780.4(CHD7):c.7940_7941dup:p.Pro2648fs	coding	Pathogenic
8	60862553	TGGAGCTATGGCGCCTCCAATGAAGGATCTACCCAGGTGGCTGGAAGAAAATCCTGAATTTGCAGTTGCTCCAGACTGGACTGATAT	CTCA	T60862553C	CHD7	NM_017780.4(CHD7):c.7977_8063delinsCTCA:p.Gly2660fs	coding	Pathogenic
8	60862581	C	CT	A60862583T	CHD7	NM_017780.4(CHD7):c.8006dup:p.Pro2670fs	coding	Pathogenic
8	60862624	CA	C	A60862625G	CHD7	NM_017780.4(CHD7):c.8049del:p.Asp2684fs	coding	Pathogenic
8	60862637	T	TA	T60862639A	CHD7	NM_017780.4(CHD7):c.8062dup:p.Ile2688fs	coding	Pathogenic
8	60862641	GT	G	T60862643A	CHD7	NM_017780.4(CHD7):c.8067del:p.Lys2690fs	coding	Pathogenic
8	60862644	A	ATAAC	A60862645T	CHD7	NM_017780.4(CHD7):c.8068_8069insTAAC:p.Lys2690fs	coding	Pathogenic
8	60865017	G	GTT	G60865022T	CHD7	NM_017780.4(CHD7):c.8081_8082dup:p.Val2695fs	coding	Pathogenic
8	60865390	T	TAACCCTCTGTC	G60865403A	CHD7	NM_017780.4(CHD7):c.8453_8463dup:p.Ala2822fs	coding	Pathogenic
8	60865394	CCT	C	C60865397G	CHD7	NM_017780.4(CHD7):c.8456_8457CT[1]:p.Leu2820fs	coding	Pathogenic
8	60865456	CA	C	A60865457C	CHD7	NM_017780.4(CHD7):c.8518del:p.Thr2840fs	coding	Pathogenic
8	60865484	GAGAATGA	G	A60865488C	CHD7	NM_017780.4(CHD7):c.8549_8555del:p.Asn2850fs	coding	Pathogenic
8	60865555	ATCTGTTGGTGCTGCTAC	A	C60865557G	CHD7	NM_017780.4(CHD7):c.8618_8634del:p.Ser2873fs	coding	Pathogenic
8	60865621	C	CT	C60865622T	CHD7	NM_017780.4(CHD7):c.8682_8683insT:p.Leu2895fs	coding	Pathogenic
8	60865667	CCT	C	T60865669C	CHD7	NM_017780.4(CHD7):c.8730_8731del:p.Pro2911fs	coding	Pathogenic
8	60865677	T	TG	A60865684G	CHD7	NM_017780.4(CHD7):c.8744dup:p.Leu2916fs	coding	Pathogenic
8	60865894	T	TG	A60865902G	CHD7	NM_017780.4(CHD7):c.8962dup:p.Asp2988fs	coding	Pathogenic
8	60866050	CA	C	A60866060G	CHD7	NM_017780.4(CHD7):c.*127del	noncoding	Benign
8	61526021	AGGTT	CCC	A61526021C	ASPH	NM_004318.4(ASPH):c.1852_1856delinsGGG:p.Asn618fs	coding	Pathogenic
8	63060673	GAAA	G	A63060686G	TTPA	NM_000370.3(TTPA):c.*576_*578del	noncoding	Benign
8	63061344	CT	C	T63061346C	TTPA	NM_000370.3(TTPA):c.744del:p.Glu249fs	coding	Pathogenic
8	63061362	GA	G	A63061363G	TTPA	NM_000370.3(TTPA):c.726del:p.Leu243fs	coding	Pathogenic
8	63065925	CT	ACTTAC	C63065925A	TTPA	NM_000370.3(TTPA):c.530_531delinsGTAAGT:p.Lys177fs	coding	Pathogenic
8	63065942	T	TAA	G63065943A	TTPA	NM_000370.3(TTPA):c.513_514insTT:p.Thr172fs	coding	Pathogenic
8	63065968	CA	C	A63065970C	TTPA	NM_000370.3(TTPA):c.487del:p.Trp163fs	coding	Pathogenic/Likely_pathogenic
8	63066099	TA	T	A63066107T	TTPA	NM_000370.3(TTPA):c.359-3del	noncoding	Benign
8	63085839	GA	G	A63085842T	TTPA	NM_000370.3(TTPA):c.182del:p.Phe61fs	coding	Pathogenic
8	63085903	ACGCCAGCTTCCCGGGCCCGGCGCCGCAGCGC	A	C63085910G	TTPA	NM_000370.3(TTPA):c.88_118del:p.Ala30fs	coding	Pathogenic/Likely_pathogenic
8	63086002	TG	T	G63086005A	TTPA	NM_000370.3(TTPA):c.19del:p.Gln7fs	coding	Pathogenic
8	64596876	G	GA	G64596882A	CYP7B1	NM_004820.5(CYP7B1):c.1286dup:p.Lys430fs	coding	Pathogenic
8	64615168	C	CA	T64615170A	CYP7B1	NM_004820.5(CYP7B1):c.914dup:p.Met305fs	coding	Pathogenic
8	64615717	TA	T	A64615719T	CYP7B1	NM_004820.5(CYP7B1):c.823del:p.Tyr275fs	coding	Pathogenic
8	64615890	T	TA	T64615897A	CYP7B1	NM_004820.5(CYP7B1):c.650dup:p.Leu217fs	coding	Pathogenic
8	64615905	TAGCTC	T	G64615907C	CYP7B1	NM_004820.5(CYP7B1):c.631_635del:p.Glu211fs	coding	Pathogenic
8	64616137	TTCATG	T	T64616143A	CYP7B1	NM_004820.5(CYP7B1):c.394_398CATGA[1]:p.Asp133fs	coding	Pathogenic
8	64616148	A	AT	G64616156T	CYP7B1	NM_004820.5(CYP7B1):c.392dup:p.Asn131fs	coding	Pathogenic
8	64616216	ATTGT	A	G64616219A	CYP7B1	NM_004820.5(CYP7B1):c.321_324del:p.Lys107fs	coding	Pathogenic
8	64624511	CT	C	T64624515A	CYP7B1	NM_004820.5(CYP7B1):c.150del:p.Gly51fs	coding	Pathogenic
8	64624547	GAA	G	A64624557G	CYP7B1	NM_004820.5(CYP7B1):c.123-10_123-9del	noncoding	Benign
8	64624547	GA	G	A64624558G	CYP7B1	NM_004820.5(CYP7B1):c.123-9del	noncoding	Benign
8	66177323	T	TGCG	T66177335G	CRH	NM_000756.4(CRH):c.146_148CGC[4]:p.Pro51dup	coding	Benign
8	67074309	CAA	C	A67074311G	CSPP1	NM_024790.6(CSPP1):c.167_168del:p.Lys56fs	coding	Pathogenic
8	67086060	CAT	C	T67086062A	CSPP1	NM_024790.6(CSPP1):c.363_364del:p.His121fs	coding	Pathogenic
8	67093587	CA	C	A67093588G	CSPP1	NM_024790.6(CSPP1):c.457del:p.Arg153fs	coding	Pathogenic
8	67093587	CAG	C	A67093588G	CSPP1	NM_024790.6(CSPP1):c.457_458del:p.Arg153fs	coding	Pathogenic
8	67137467	AGAAGAAAGAAG	A	G67137478C	CSPP1	NM_024790.6(CSPP1):c.1835_1845del:p.Arg612fs	coding	Pathogenic
8	67149947	CT	C	T67149971A	CSPP1	NM_024790.6(CSPP1):c.2113+36del	noncoding	Benign
8	67158462	CAAAG	C	A67158464G	CSPP1	NM_001291339.1(CSPP1):c.1209_1212del:p.Glu405fs	coding	Pathogenic
8	67158462	CAA	C	A67158464G	CSPP1	NM_024790.6(CSPP1):c.2244_2245del:p.Glu750fs	coding	Pathogenic
8	67158499	CA	C	A67158500G	CSPP1	NM_024790.6(CSPP1):c.2280del:p.Glu761fs	coding	Pathogenic
8	67158578	AAG	A	G67158584A	CSPP1	NM_001291339.1(CSPP1):c.1325_1326GA[2]:p.Lys444fs	coding	Pathogenic
8	67159046	CAGAA	C	A67159055G	CSPP1	NM_001291339.1(CSPP1):c.1398_1401AGAA[2]:p.Lys469fs	coding	Pathogenic
8	67159049	A	AAAGAAAG	G67159069A	CSPP1	NM_001291339.1(CSPP1):c.1406_1412AGAAGAA[3]:p.Glu474fs	coding	Pathogenic
8	67159049	AAAGAAAG	A	A67159062G	CSPP1	NM_001291339.1(CSPP1):c.1406_1412AGAAGAA[1]:p.Glu472fs	coding	Pathogenic
8	67159122	T	TG	A67159127G	CSPP1	NM_024790.6(CSPP1):c.2512dup:p.Glu838fs	coding	Pathogenic
8	67161811	CA	C	A67161812C	CSPP1	NM_024790.6(CSPP1):c.2525del:p.His842fs	coding	Pathogenic
8	67161813	CAT	C	A67161814G	CSPP1	NM_024790.6(CSPP1):c.2527_2528del:p.Met843fs	coding	Pathogenic
8	67164395	GA	G	A67164403T	CSPP1	NM_024790.6(CSPP1):c.2708del:p.Asn903fs	coding	Pathogenic
8	67172403	CATTTATCTATAGGAAAAAGGAAAGGAATCCCATGGATATATTTGATATGGCTAGACATCGGTTGCAAGCTCCTGTCAGAAGACAGTCCCCTAAGGGCTTAGACGCTGCCACTTTTCAGAATGTTCATGATTTTAATGAGCTGAAAGATAGAGGTGAGTAG	C	T67172407G	CSPP1	NM_024790.6(CSPP1):c.2814-10_2953+10del	noncoding	Pathogenic
8	67190655	T	TA	C67190657A	CSPP1	NM_024790.6(CSPP1):c.3212dup:p.Tyr1071Ter	coding	Pathogenic
8	71198827	GTTTT	G	T71198831A	EYA1	NM_000503.6(EYA1):c.*509_*512del	noncoding	Benign
8	71211155	CCTTT	C	C71211156T	EYA1	NM_000503.6(EYA1):c.1695_1698del:p.Lys565fs	coding	Pathogenic
8	71211156	C	CA	T71211157A	EYA1	NM_000503.6(EYA1):c.1697_1698insT:p.Lys566fs	coding	Pathogenic
8	71211218	CA	C	A71211221C	EYA1	NM_000503.6(EYA1):c.1635del:p.Phe545fs	coding	Pathogenic
8	71215476	GTAGTTGT	G	G71215479C	EYA1	NM_000503.6(EYA1):c.1501_1507del:p.Thr501fs	coding	Pathogenic
8	71215667	CAGGG	C	A71215668C	EYA1	NM_000503.6(EYA1):c.1418_1421del:p.Ala473fs	coding	Pathogenic
8	71216696	AAC	A	C71216698T	EYA1	NM_000503.6(EYA1):c.1354_1355del:p.Val452fs	coding	Pathogenic
8	71216721	ATC	A	C71216725T	EYA1	NM_000503.6(EYA1):c.1327_1328GA[1]:p.Glu443fs	coding	Pathogenic
8	71216792	CA	C	A71216795C	EYA1	NM_000503.6(EYA1):c.1259del:p.Leu420fs	coding	Pathogenic
8	71244620	AT	A	T71244621A	EYA1	NM_000503.6(EYA1):c.1122del:p.Leu374fs	coding	Pathogenic
8	71244624	ATG	A	G71244630C	EYA1	NM_000503.6(EYA1):c.1113_1114CA[2]:p.His373fs	coding	Pathogenic
8	71269773	CAAGG	C	A71269775G	EYA1	NM_000503.6(EYA1):c.1013_1016del:p.Ser338fs	coding	Pathogenic
8	71299066	TG	T	G71299067C	EYA1	NM_000503.6(EYA1):c.806del:p.Ala269fs	coding	Pathogenic
8	71299174	TGAGCTGTTATAATACTGTGCGTACTGACCCTGGCCAAAACTGGGATAAGACGGATAGTCCTACCAAATCAAACC	T	G71299175A	EYA1	NM_000503.6(EYA1):c.640-15_698del	coding	Pathogenic
8	71299671	GA	G	A71299672G	EYA1	NM_000503.6(EYA1):c.605del:p.Leu202fs	coding	Pathogenic
8	71317575	GC	G	C71317577T	EYA1	NM_000503.6(EYA1):c.532del:p.Ala178fs	coding	Pathogenic
8	71321745	ATGCCGTACGGC	A	C71321748T	EYA1	NM_000503.6(EYA1):c.396_406del:p.Gln132fs	coding	Pathogenic
8	73976397	C	CGT	C73976400G	TMEM70	NM_017866.6(TMEM70):c.117_118dup:p.Ser40fs	coding	Pathogenic
8	73981211	A	AT	A73981217T	TMEM70	NM_017866.6(TMEM70):c.378dup:p.Thr127fs	coding	Pathogenic
8	74350573	CA	C	A74350577G	GDAP1	NM_018972.4(GDAP1):c.116del:p.Lys39fs	coding	Pathogenic
8	74351292	GA	G	A74351296G	GDAP1	NM_018972.4(GDAP1):c.140del:p.Lys47fs	coding	Pathogenic
8	74351708	CTT	C	T74351709A	GDAP1	NM_018972.4(GDAP1):c.310+243_310+244del	noncoding	Benign
8	74360174	G	GT	A74360176T	GDAP1	NM_018972.4(GDAP1):c.349dup:p.Tyr117fs	coding	Pathogenic
8	74361899	CA	C	A74361900G	GDAP1	NM_018972.4(GDAP1):c.501del:p.Glu168fs	coding	Pathogenic
8	74361899	CAG	C	A74361902T	GDAP1	NM_018972.4(GDAP1):c.501_502AG[1]:p.Glu168fs	coding	Pathogenic
8	74361975	TA	T	A74361978G	GDAP1	NM_018972.4(GDAP1):c.579del:p.Lys193fs	coding	Pathogenic
8	74362096	CAT	C	A74362097G	GDAP1	NM_018972.4(GDAP1):c.579+119_579+120del	noncoding	Benign
8	74362976	A	AG	A74362978G	GDAP1	NM_018972.4(GDAP1):c.618dup:p.Lys207fs	coding	Pathogenic
8	74363981	TTAGAAGAGGGCCAGCAACCTTGGCTCTGCGGTGAATCCTTCACCCTGGCAGACGTCTCACTCGCTGTCACATTGCATCGACTGAAGTTCCTGGGGTTTGCAAGGAGAAACTGGGGAAACGGAAAGCGACCAAACTTGGAAACCTATTACGAGCGTGTCTTGAAGAGAAAAACATTTAACAAGGTTTTAGGACATGTCAACAATATATTAATCTCTGCAGTGCTGCCAACAGCATTCCGGGTGGCCAAGAAAAGGGCCCCAAAAGTTCTTGGCACGACCCTTGTGGTTGGTTTGCTTGCAGGAGTGGGATATTTTGCTTTTATGCTTTTCAGAAAGAGGCTTGGCAGCATGATATTAGCATTTAGACCCAGACCAAATTATTTC	T	A74363985G	GDAP1	NM_001362931.2(GDAP1):c.694+932_694+1314del	noncoding	Pathogenic
8	74364072	TG	T	G74364076T	GDAP1	NM_018972.4(GDAP1):c.786del:p.Phe263fs	coding	Pathogenic/Likely_pathogenic
8	74364147	G	GA	C74364153A	GDAP1	NM_018972.4(GDAP1):c.862dup:p.Thr288fs	coding	Pathogenic
8	74364216	TC	T	C74364218G	GDAP1	NM_018972.4(GDAP1):c.928del:p.Arg310fs	coding	Pathogenic
8	76983313	C	CT	G76983315T	PEX2	NM_000318.3(PEX2):c.865dup:p.Ser289fs	coding	Pathogenic
8	76983554	G	GT	A76983556T	PEX2	NM_000318.3(PEX2):c.624dup:p.Pro209fs	coding	Pathogenic/Likely_pathogenic
8	76983628	CA	C	A76983629T	PEX2	NM_000318.3(PEX2):c.550del:p.Cys184fs	coding	Pathogenic
8	76983628	CAT	C	A76983631G	PEX2	NM_000318.3(PEX2):c.547_548AT[1]:p.Ile183fs	coding	Pathogenic
8	76983833	ACCACCTG	A	T76983839A	PEX2	NM_000318.3(PEX2):c.339_345del:p.Gly113_Arg114insTer	coding	Pathogenic/Likely_pathogenic
8	76983868	A	AT	G76983875T	PEX2	NM_000318.3(PEX2):c.310dup:p.Ile104fs	coding	Pathogenic/Likely_pathogenic
8	76983895	TATCTC	T	T76983897G	PEX2	NM_000318.3(PEX2):c.279_283del:p.Arg94fs	coding	Pathogenic
8	76983960	AT	A	T76983965G	PEX2	NM_000318.3(PEX2):c.218del:p.Asn73fs	coding	Pathogenic
8	76984141	CTGTT	C	T76984144C	PEX2	NM_000318.3(PEX2):c.34_37del:p.Asn12fs	coding	Pathogenic
8	81671011	G	GAGCCC	A81671018G	IMPA1	NM_005536.4(IMPA1):c.489_493dup:p.Ser165fs	coding	Pathogenic
8	86575874	CT	C	T86575875G	CNGB3	NM_019098.4(CNGB3):c.2359del:p.Ser787fs	coding	Pathogenic
8	86576012	TC	T	C86576013T	CNGB3	NM_019098.4(CNGB3):c.2221del:p.Asp741fs	coding	Pathogenic
8	86579218	CA	C	A86579219G	CNGB3	NM_019098.4(CNGB3):c.1815del:p.Ala606fs	coding	Pathogenic
8	86604091	AC	A	C86604093T	CNGB3	NM_019098.4(CNGB3):c.1781+1del	noncoding	Pathogenic/Likely_pathogenic
8	86604166	GGA	G	G86604167C	CNGB3	NM_019098.4(CNGB3):c.1706_1707del:p.Val569fs	coding	Pathogenic
8	86625991	A	AGTCG	A86625996G	CNGB3	NM_019098.4(CNGB3):c.1566_1569dup:p.Leu524fs	coding	Pathogenic
8	86626027	T	AC	T86626027A	CNGB3	NM_019098.4(CNGB3):c.1534delinsGT:p.Ile512fs	coding	Pathogenic
8	86626044	AC	A	C86626046G	CNGB3	NM_019098.4(CNGB3):c.1516del:p.Val506fs	coding	Pathogenic
8	86626067	CA	C	A86626070T	CNGB3	NM_019098.4(CNGB3):c.1493del:p.Leu498fs	coding	Pathogenic
8	86628968	CT	G	C86628968G	CNGB3	NM_019098.4(CNGB3):c.1430_1431delinsC:p.Lys477fs	coding	Pathogenic
8	86632771	AAC	A	C86632775A	CNGB3	NM_019098.4(CNGB3):c.1297_1298GT[1]:p.Phe434fs	coding	Pathogenic
8	86632786	GA	G	A86632794T	CNGB3	NM_019098.4(CNGB3):c.1285del:p.Ser429fs	coding	Pathogenic/Likely_pathogenic
8	86632786	G	GA	T86632795A	CNGB3	NM_019098.4(CNGB3):c.1285dup:p.Ser429fs	coding	Pathogenic
8	86632825	GTT	G	T86632827G	CNGB3	NM_019098.4(CNGB3):c.1245_1246del:p.Gln415fs	coding	Pathogenic
8	86632852	GTAAT	G	T86632856A	CNGB3	NM_019098.4(CNGB3):c.1216_1219del:p.Ile406fs	coding	Pathogenic
8	86632879	TAAC	T	A86632881T	CNGB3	NM_019098.4(CNGB3):c.1190_1192del:p.Cys397del	coding	Pathogenic
8	86643827	C	CATTA	G86643834T	CNGB3	NM_019098.4(CNGB3):c.1098_1101dup:p.Ala368Ter	coding	Pathogenic/Likely_pathogenic
8	86644671	C	CA	T86644678A	CNGB3	NM_019098.4(CNGB3):c.1005dup:p.Glu336Ter	coding	Pathogenic
8	86654019	TTTGTAGAAGT	A	T86654019A	CNGB3	NM_019098.4(CNGB3):c.886_896delinsT:p.Thr296fs	coding	Pathogenic/Likely_pathogenic
8	86654042	C	GTTTG	C86654042G	CNGB3	NM_019098.4(CNGB3):c.873delinsCAAAC:p.Arg291fs	coding	Pathogenic
8	86666950	TGGAGTCTG	T	A86666953C	CNGB3	NM_019098.4(CNGB3):c.819_826del:p.Arg274fs	coding	Pathogenic
8	86666957	TG	T	G86666960C	CNGB3	NM_019098.4(CNGB3):c.819del:p.Arg274fs	coding	Pathogenic
8	86666982	AAGGT	A	G86666985A	CNGB3	NM_019098.4(CNGB3):c.791_794del:p.Tyr264fs	coding	Pathogenic
8	86666998	CAT	C	A86667001G	CNGB3	NC_000008.11:g.86666999_86667000AT[1]	coding	Pathogenic
8	86667071	TAAAA	AAAAAC	T86667071A	CNGB3	NM_019098.4(CNGB3):c.702_706delinsGTTTTT:p.Cys234fs	coding	Pathogenic
8	86667071	T	AA	T86667071A	CNGB3	NM_019098.4(CNGB3):c.706delinsTT:p.Ile236fs	coding	Pathogenic
8	86667075	AC	CT	A86667075C	CNGB3	NM_019098.4(CNGB3):c.701_702delinsAG:p.Cys234Ter	coding	Pathogenic
8	86667094	G	GC	A86667096C	CNGB3	NM_019098.4(CNGB3):c.682dup:p.Ala228fs	coding	Pathogenic
8	86668066	TC	T	C86668067T	CNGB3	NM_019098.4(CNGB3):c.595del:p.Glu199fs	coding	Pathogenic
8	86668071	TAA	T	A86668073G	CNGB3	NM_019098.4(CNGB3):c.589_590del:p.Leu197fs	coding	Pathogenic
8	86668178	G	GA	G86668190A	CNGB3	NM_019098.4(CNGB3):c.494-21dup	noncoding	Benign/Likely_benign
8	86670990	C	CA	T86670991A	CNGB3	NM_019098.4(CNGB3):c.446_447insT:p.Lys149fs	coding	Pathogenic/Likely_pathogenic
8	86671043	GC	TCACCAGGA	G86671043T	CNGB3	NM_019098.4(CNGB3):c.393_394delinsTCCTGGTGA:p.Gln131fs	coding	Pathogenic
8	86726570	TC	T	C86726571T	CNGB3	NM_019098.4(CNGB3):c.298del:p.Glu100fs	coding	Pathogenic
8	86726584	AGTTG	A	G86726588C	CNGB3	NM_019098.4(CNGB3):c.281_284del:p.Pro94fs	coding	Pathogenic
8	86726611	AG	A	G86726614T	CNGB3	NM_019098.4(CNGB3):c.257del:p.Pro86fs	coding	Pathogenic
8	86739670	G	GTGGC	C86739676G	CNGB3	NM_019098.4(CNGB3):c.192_195dup:p.His66fs	coding	Pathogenic
8	86739675	TC	T	C86739676T	CNGB3	NM_019098.4(CNGB3):c.190del:p.Glu64fs	coding	Pathogenic
8	86743513	GCTGAGACTGA	G	C86743514T	CNGB3	NM_019098.4(CNGB3):c.105_114del:p.Gln36fs	coding	Pathogenic
8	86743532	G	GT	G86743534T	CNGB3	NM_019098.4(CNGB3):c.95dup:p.His32fs	coding	Pathogenic
8	86743596	A	AC	T86743599C	CNGB3	NM_019098.4(CNGB3):c.31dup:p.Val11fs	coding	Pathogenic
8	86743598	C	CT	G86743601T	CNGB3	NM_019098.4(CNGB3):c.29dup:p.Val11fs	coding	Pathogenic
8	89784141	TAAA	T	A89784162G	RIPK2	NM_003821.6(RIPK2):c.1029+23_1029+25del	noncoding	Benign
8	89943290	TTC	A	T89943290A	NBN	NM_002485.5(NBN):c.2145_2147delinsT:p.Lys715fs	coding	Pathogenic
8	89943293	TTTCG	T	T89943294A	NBN	NM_002485.5(NBN):c.2140_2143del:p.Lys715fs	coding	Pathogenic
8	89943296	CG	C	G89943297A	NBN	NM_002485.5(NBN):c.2140del:p.Arg714fs	coding	Pathogenic
8	89943334	GT	G	T89943335G	NBN	NM_002485.5(NBN):c.2102del:p.His701fs	coding	Pathogenic
8	89943337	TG	T	G89943339A	NBN	NM_002485.5(NBN):c.2099del:p.Pro700fs	coding	Pathogenic
8	89946172	C	CATAATCAT	C89946181A	NBN	NM_002485.5(NBN):c.2030_2037dup:p.Gly680fs	coding	Pathogenic
8	89946210	GAGTTTTTAATCACC	G	T89946214G	NBN	NM_002485.4(NBN):c.1986_1999del:p.Val663fs	coding	Pathogenic
8	89946235	AT	A	T89946237C	NBN	NM_001024688.2(NBN):c.1728del:p.Glu576fs	coding	Pathogenic/Likely_pathogenic
8	89946251	C	CT	G89946258T	NBN	NM_002485.4(NBN):c.1958dup:p.Leu654fs	coding	Pathogenic
8	89946269	AC	A	C89946270T	NBN	NM_002485.4(NBN):c.1940del:p.Ser647fs	coding	Pathogenic
8	89947852	TCTTC	T	C89947856G	NBN	NM_002485.4(NBN):c.1882_1885del:p.Glu628fs	coding	Pathogenic
8	89947877	CA	C	A89947879T	NBN	NM_002485.5(NBN):c.1860del:p.Ile620fs	coding	Pathogenic
8	89947880	TTTCA	T	C89947883T	NBN	NM_002485.4(NBN):c.1854_1857del:p.Asn618fs	coding	Pathogenic
8	89953301	A	AG	T89953302G	NBN	NM_002485.4(NBN):c.1787_1788insC:p.Ile597fs	coding	Pathogenic
8	89953308	CT	C	T89953310G	NBN	NM_002485.5(NBN):c.1780del:p.Arg594fs	coding	Pathogenic
8	89953319	TC	T	C89953320T	NBN	NM_002485.4(NBN):c.1769del:p.Arg590fs	coding	Pathogenic
8	89953328	G	GACATCTTCCTCCTGTTTTTGAACTTTCACATCAATTTCTAACTCTGGTTTTGTGTCCTTGA	T89953391C	NBN	NM_002485.5(NBN):c.1700_1760dup:p.Asn588_Val589insGlnGlyHisLysThrArgValArgAsnTer	coding	Pathogenic
8	89953341	T	TG	T89953343G	NBN	NM_002485.5(NBN):c.1747dup:p.Gln583fs	coding	Pathogenic
8	89953351	CT	C	T89953354C	NBN	NM_002485.4(NBN):c.1737del:p.Val580fs	coding	Pathogenic
8	89953372	C	CT	G89953374T	NBN	NM_002485.4(NBN):c.1716dup:p.Glu573fs	coding	Pathogenic/Likely_pathogenic
8	89953391	T	TA	C89953394A	NBN	NM_002485.5(NBN):c.1697dup:p.Leu566fs	coding	Pathogenic
8	89953392	AACTGTTCCAATACTTCATCTTCTATGGCCACATCATCCATTTCCCTTTTTTTATTTGATCTTAGCTTTTCTGCAGCATGAGATTT	A	T89953397G	NBN	NM_002485.4(NBN):c.1612_1696del:p.Lys538fs	coding	Pathogenic
8	89953413	T	TC	T89953415C	NBN	NM_002485.4(NBN):c.1675dup:p.Glu559fs	coding	Pathogenic
8	89953434	T	TC	T89953438C	NBN	NM_002485.4(NBN):c.1654dup:p.Glu552fs	coding	Pathogenic
8	89953437	C	CT	A89953445T	NBN	NM_002485.4(NBN):c.1651dup:p.Arg551fs	coding	Pathogenic
8	89953437	CTTTT	C	T89953441A	NBN	NM_002485.4(NBN):c.1648_1651del:p.Lys550fs	coding	Pathogenic
8	89953437	CTTTTT	C	T89953440A	NBN	NM_002485.4(NBN):c.1647_1651del:p.Lys550fs	coding	Pathogenic
8	89953452	CTT	C	T89953453A	NBN	NM_002485.4(NBN):c.1635_1636del:p.Arg546fs	coding	Pathogenic
8	89953505	TA	T	A89953508T	NBN	NM_002485.4(NBN):c.1583del:p.Asp527_Leu528insTer	coding	Pathogenic
8	89953534	C	CT	G89953536T	NBN	NM_002485.4(NBN):c.1554dup:p.Asp519fs	coding	Pathogenic
8	89953538	G	GT	G89953542T	NBN	NM_002485.4(NBN):c.1550dup:p.Asn517fs	coding	Pathogenic
8	89953562	A	AG	A89953564G	NBN	NM_002485.4(NBN):c.1526dup:p.Ser509_Glu510insTer	coding	Pathogenic
8	89953573	GC	G	C89953574T	NBN	NM_002485.4(NBN):c.1515del:p.Glu505fs	coding	Pathogenic/Likely_pathogenic
8	89953605	GG	T	G89953605T	NBN	NM_001024688.2(NBN):c.1237_1238delinsA:p.Pro413fs	coding	Pathogenic
8	89953607	TTG	T	G89953611T	NBN	NM_002485.5(NBN):c.1478_1479CA[1]:p.Gln494fs	coding	Pathogenic
8	89953607	TTGTG	T	G89953609T	NBN	NM_002485.5(NBN):c.1478_1481del:p.Thr493fs	coding	Pathogenic
8	89953657	A	ATGAAGACATTTCT	T89953674A	NBN	NM_001024688.2(NBN):c.1173_1185dup:p.Cys396fs	coding	Pathogenic
8	89953661	AGACATTTCTT	A	C89953664T	NBN	NM_002485.5(NBN):c.1418_1427del:p.Gln473fs	coding	Pathogenic
8	89953700	T	TA	G89953710A	NBN	NM_002485.4(NBN):c.1398-10dup	noncoding	Benign/Likely_benign
8	89955281	AC	A	C89955283T	NBN	NM_002485.4(NBN):c.1397+1del	noncoding	Pathogenic
8	89955283	C	CT	G89955291T	NBN	NM_002485.4(NBN):c.1396dup:p.Arg466fs	coding	Pathogenic
8	89955302	G	GA	G89955306A	NBN	NM_002485.4(NBN):c.1377dup:p.Gln460fs	coding	Pathogenic
8	89955313	CT	C	T89955314G	NBN	NM_002485.4(NBN):c.1366del:p.Arg456fs	coding	Pathogenic
8	89955343	GC	G	C89955346T	NBN	NM_002485.4(NBN):c.1336del:p.Ala446fs	coding	Pathogenic
8	89955347	T	TA	T89955349A	NBN	NM_002485.5(NBN):c.1332dup:p.Arg445Ter	coding	Pathogenic
8	89955359	TAT	AA	T89955359A	NBN	NM_002485.5(NBN):c.1319_1321delinsTT:p.Asn440fs	coding	Pathogenic
8	89955420	AG	A	G89955421T	NBN	NM_002485.5(NBN):c.1259del:p.Thr420fs	coding	Pathogenic
8	89955421	GTATT	G	A89955423G	NBN	NM_002485.4(NBN):c.1255_1258del:p.Asn419fs	coding	Pathogenic/Likely_pathogenic
8	89955473	C	CAGTG	G89955478A	NBN	NM_002485.5(NBN):c.1203_1206dup:p.Val403fs	coding	Pathogenic
8	89955493	AG	A	G89955494C	NBN	NM_002485.4(NBN):c.1186del:p.Leu396fs	coding	Pathogenic
8	89955524	C	CT	G89955528T	NBN	NM_002485.4(NBN):c.1155dup:p.Val386fs	coding	Pathogenic
8	89955524	CTT	C	T89955526G	NBN	NM_002485.4(NBN):c.1154_1155del:p.Lys385fs	coding	Pathogenic
8	89955529	AT	A	T89955532C	NBN	NM_002485.4(NBN):c.1150del:p.Ile384fs	coding	Pathogenic
8	89955533	CT	C	T89955537G	NBN	NM_002485.5(NBN):c.1146del:p.Glu383fs	coding	Pathogenic
8	89955537	TG	T	G89955539C	NBN	NM_001024688.2(NBN):c.896del:p.Pro299fs	coding	Pathogenic/Likely_pathogenic
8	89958711	TGAA	T	A89958716C	NBN	NM_002485.4(NBN):c.1124+11_1124+13del	noncoding	Benign/Likely_benign
8	89958809	G	GAC	G89958814A	NBN	NM_001024688.2(NBN):c.790_791GT[3]:p.Ser265fs	coding	Pathogenic
8	89958819	G	GT	G89958821T	NBN	NM_002485.5(NBN):c.1029dup:p.Gln344fs	coding	Pathogenic
8	89964406	TTACCTG	T	C89964410T	NBN	NM_002485.4(NBN):c.992_994+3del	noncoding	Pathogenic
8	89964429	AG	A	G89964431A	NBN	NM_002485.4(NBN):c.974del:p.Pro325fs	coding	Pathogenic
8	89964436	CAG	C	A89964437T	NBN	NM_002485.5(NBN):c.966_967del:p.Tyr322_Cys323delinsTer	coding	Pathogenic
8	89964479	CTGCTTCAGGAATAGGTCTAAGACCT	C	T89964483C	NBN	NM_001024688.2(NBN):c.654_678del:p.Gly219fs	coding	Pathogenic
8	89964486	AG	A	G89964488A	NBN	NM_002485.4(NBN):c.917del:p.Pro306fs	coding	Pathogenic
8	89964492	AG	A	G89964494T	NBN	NM_002485.4(NBN):c.911del:p.Pro304fs	coding	Pathogenic
8	89970373	ATATCCAT	A	C89970377T	NBN	NM_002485.5(NBN):c.880_886del:p.Met294fs	coding	Pathogenic
8	89970382	AT	A	T89970384G	NBN	NM_002485.5(NBN):c.877del:p.Ser292_Ile293insTer	coding	Pathogenic
8	89970387	C	CT	G89970389T	NBN	NM_002485.4(NBN):c.872dup:p.Ser292fs	coding	Pathogenic
8	89970415	A	AT	A89970418T	NBN	NM_002485.4(NBN):c.844dup:p.Ile282fs	coding	Pathogenic
8	89970415	AT	A	T89970417A	NBN	NM_002485.5(NBN):c.844del:p.Ile282fs	coding	Pathogenic
8	89970417	T	TA	G89970420A	NBN	NM_001024688.2(NBN):c.596dup:p.Leu199fs	coding	Pathogenic
8	89970420	GGTCT	G	C89970423G	NBN	NM_002485.4(NBN):c.836_839del:p.Gln279fs	coding	Pathogenic
8	89970423	CT	C	T89970424G	NBN	NM_002485.4(NBN):c.836del:p.Gln279fs	coding	Pathogenic
8	89970432	TG	T	G89970433T	NBN	NM_002485.5(NBN):c.827del:p.Thr276fs	coding	Pathogenic
8	89970442	G	GT	A89970444T	NBN	NM_002485.4(NBN):c.817dup:p.Thr273fs	coding	Pathogenic
8	89970450	AAC	A	A89970455G	NBN	NM_002485.5(NBN):c.804_805GT[2]:p.Val270fs	coding	Pathogenic
8	89970459	T	TC	G89970463C	NBN	NM_002485.4(NBN):c.800dup:p.Thr268fs	coding	Pathogenic/Likely_pathogenic
8	89970517	T	TCC	A89970522C	NBN	NM_001024688.2(NBN):c.495_496dup:p.Glu166fs	coding	Pathogenic/Likely_pathogenic
8	89971173	CTGTT	C	T89971176G	NBN	NM_001024688.2(NBN):c.452_455del:p.Lys151fs	coding	Pathogenic
8	89971193	TA	T	A89971196T	NBN	NM_002485.4(NBN):c.681del:p.Phe227fs	coding	Pathogenic
8	89971198	GT	G	T89971202C	NBN	NM_002485.4(NBN):c.676del:p.Thr226fs	coding	Pathogenic
8	89971202	TC	T	C89971205T	NBN	NM_002485.5(NBN):c.672del:p.Thr226fs	coding	Pathogenic
8	89971272	ATCAAGAGGTGGG	CAA	A89971272C	NBN	NM_001024688.2(NBN):c.345_357delinsTTG:p.Pro116fs	coding	Pathogenic
8	89971285	T	TA	C89971291A	NBN	NM_002485.5(NBN):c.589dup:p.Tyr197fs	coding	Pathogenic
8	89978235	G	GGCTGCTTCTTGGACTCA	A89978253G	NBN	NM_002485.5(NBN):c.552_568dup:p.Pro190fs	coding	Pathogenic
8	89978238	TG	T	G89978239C	NBN	NM_002485.5(NBN):c.565del:p.Gln189fs	coding	Pathogenic
8	89978240	C	CT	C89978243T	NBN	NM_002485.5(NBN):c.563dup:p.Gln189fs	coding	Pathogenic
8	89978267	TTC	A	T89978267A	NBN	NM_002485.4(NBN):c.535_537delinsT:p.Glu179fs	coding	Pathogenic
8	89978291	AATTGGACGTCCACAAAT	A	A89978292G	NBN	NM_002485.4(NBN):c.496_512del:p.Ile166fs	coding	Pathogenic
8	89978304	C	CA	T89978308A	NBN	NM_002485.5(NBN):c.499dup:p.Cys167fs	coding	Pathogenic
8	89978311	G	GT	G89978313T	NBN	NM_002485.5(NBN):c.492dup:p.Leu165fs	coding	Pathogenic
8	89980739	TG	T	G89980741T	NBN	NM_002485.4(NBN):c.474del:p.Ile159fs	coding	Pathogenic
8	89980745	CT	C	T89980748C	NBN	NM_002485.4(NBN):c.468del:p.Val157fs	coding	Pathogenic
8	89980765	AG	A	G89980767T	NBN	NM_002485.4(NBN):c.448del:p.Val151fs	coding	Pathogenic
8	89980768	TG	T	G89980769A	NBN	NM_002485.4(NBN):c.445del:p.His149fs	coding	Pathogenic
8	89980806	T	TC	A89980809C	NBN	NM_002485.5(NBN):c.407dup:p.Gly137fs	coding	Pathogenic
8	89980836	AG	A	G89980837T	NBN	NM_002485.4(NBN):c.377del:p.Thr126fs	coding	Pathogenic
8	89980885	TA	T	A89980886C	NBN	NM_002485.4(NBN):c.328del:p.Tyr110fs	coding	Pathogenic
8	89981377	G	GA	T89981380A	NBN	NM_002485.4(NBN):c.317dup:p.Arg107fs	coding	Pathogenic/Likely_pathogenic
8	89981388	CA	C	A89981391C	NBN	NM_001024688.2(NBN):c.60del:p.Phe20fs	coding	Pathogenic/Likely_pathogenic
8	89981422	CA	C	A89981425G	NBN	NM_002485.5(NBN):c.272del:p.Thr90_Leu91insTer	coding	Pathogenic
8	89981424	A	AAGTTC	G89981430A	NBN	NM_002485.4(NBN):c.266_270dup:p.Leu91fs	coding	Pathogenic
8	89981463	C	CA	G89981467A	NBN	NM_002485.5(NBN):c.231dup:p.Val78fs	coding	Pathogenic
8	89981468	G	GT	A89981470T	NBN	NM_001024688.2(NBN):c.-21dup	coding	Pathogenic
8	89981479	AGAAT	A	G89981480T	NBN	NM_001024688.2(NBN):c.-35_-32del	coding	Pathogenic/Likely_pathogenic
8	89981483	TTA	T	A89981485C	NBN	NM_001024688.2(NBN):c.-37_-36del	coding	Pathogenic/Likely_pathogenic
8	89981483	T	TTC	A89981485C	NBN	NM_002485.4(NBN):c.211_212insGA:p.Asn71fs	coding	Pathogenic
8	89981506	GA	G	A89981507T	NBN	NM_001024688.2(NBN):c.-59del	coding	Pathogenic
8	89981511	CA	C	A89981512T	NBN	NM_001024688.2(NBN):c.-64del	coding	Pathogenic
8	89981512	ATC	A	C89981514G	NBN	NM_002485.4(NBN):c.181_182del:p.Thr60_Asp61insTer	coding	Pathogenic/Likely_pathogenic
8	89982718	ATACCAGGTTGGT	A	C89982722A	NBN	NM_002485.4(NBN):c.163_171+3del	noncoding	Pathogenic/Likely_pathogenic
8	89982735	GAA	G	A89982738G	NBN	NM_001024688.2(NBN):c.-141_-140del	coding	Pathogenic/Likely_pathogenic
8	89982750	AAC	A	C89982754G	NBN	NM_001024688.2(NBN):c.-158_-157GT[1]	coding	Pathogenic/Likely_pathogenic
8	89982757	CATGATTTCGGCTGATCGACTGATCATTTTCA	C	G89982760C	NBN	NM_002485.4(NBN):c.105_135del:p.Ile35fs	coding	Pathogenic/Likely_pathogenic
8	89982769	TG	T	G89982770A	NBN	NM_002485.4(NBN):c.123del:p.Ser42fs	coding	Pathogenic
8	89982777	TG	T	G89982778A	NBN	NM_001024688.2(NBN):c.-182del	coding	Pathogenic
8	89982798	GCA	G	C89982801G	NBN	NM_002485.5(NBN):c.91_92TG[1]:p.Ala32fs	coding	Pathogenic
8	89982803	GTT	G	T89982807C	NBN	NM_001024688.2(NBN):c.-209_-208del	coding	Pathogenic/Likely_pathogenic
8	89982803	GTTTTTCC	G	T89982806C	NBN	NM_002485.4(NBN):c.83_89del:p.Arg28fs	coding	Pathogenic
8	89982804	TT	A	T89982804A	NBN	NM_002485.5(NBN):c.88_89delinsT:p.Asn30fs	coding	Pathogenic
8	89982817	C	CA	C89982820A	NBN	NM_002485.4(NBN):c.75dup:p.Val26fs	coding	Pathogenic
8	89982832	CA	C	A89982833G	NBN	NM_002485.4(NBN):c.60del:p.Gly21fs	coding	Pathogenic
8	89982836	CAA	C	A89982839G	NBN	NM_002485.4(NBN):c.55_56del:p.Leu19fs	coding	Pathogenic
8	89982836	CA	C	A89982840G	NBN	NM_002485.5(NBN):c.56del:p.Leu18_Leu19insTer	coding	Pathogenic
8	89984535	GC	G	C89984538G	NBN	NM_001024688.2(NBN):c.-271del	coding	Pathogenic
8	89984550	CA	C	A89984551G	NBN	NM_001024688.2(NBN):c.-286del	coding	Pathogenic/Likely_pathogenic
8	90045002	GT	G	T90045004G	DECR1	NM_001359.2(DECR1):c.885+9del	noncoding	Benign
8	91071242	CAT	C	T91071244G	OTUD6B	NM_016023.5(OTUD6B):c.189_190del:p.His63fs	coding	Pathogenic
8	91078415	AAACTT	A	T91078419A	OTUD6B	NM_016023.5(OTUD6B):c.379_383del:p.Leu127fs	coding	Pathogenic
8	92017274	G	GA	G92017275A	RUNX1T1	NM_175635.3(RUNX1T1):c.66_67insT:p.Pro23fs	coding	Pathogenic
8	93755751	CTT	C	T93755774A	TMEM67	NM_001142301.1(TMEM67):c.-62+637_-62+638del	noncoding	Benign
8	93755751	CTTT	C	T93755773A	TMEM67	NM_001142301.1(TMEM67):c.-62+636_-62+638delTTT	noncoding	Benign
8	93758551	TCA	T	A93758553T	TMEM67	NM_153704.6(TMEM67):c.383_384del:p.His128fs	coding	Pathogenic/Likely_pathogenic
8	93758554	CT	C	T93758555G	TMEM67	NM_153704.6(TMEM67):c.385del:p.Cys129fs	coding	Pathogenic
8	93765573	CA	C	A93765574G	TMEM67	NM_153704.6(TMEM67):c.579del:p.Gly195fs	coding	Pathogenic
8	93765573	CAG	C	A93765574G	TMEM67	NM_153704.6(TMEM67):c.579_580del:p.Gly195fs	coding	Pathogenic/Likely_pathogenic
8	93765641	GA	G	A93765643G	TMEM67	NM_153704.6(TMEM67):c.648del:p.Val217fs	coding	Pathogenic/Likely_pathogenic
8	93786306	C	CA	G93786308A	TMEM67	NM_153704.6(TMEM67):c.1373dup:p.Pro459fs	coding	Pathogenic
8	93799717	G	GCAGTGTCT	G93799726C	TMEM67	NM_153704.6(TMEM67):c.2201_2208dup:p.Ala737fs	coding	Pathogenic
8	93803676	ATGAGTAATGTAA	GG	A93803676G	TMEM67	NM_001142301.1(TMEM67):c.2071_2079+4delinsGG	coding	Pathogenic
8	93803677	TGAGTAATGTAA	G	T93803677G	TMEM67	NM_001142301.1(TMEM67):c.2072_2079+4delinsG	coding	Pathogenic
8	93809875	ATCT	A	C93809877T	TMEM67	NM_153704.6(TMEM67):c.2754_2756del:p.Phe919del	coding	Pathogenic
8	93922556	C	CT	G93922560T	PDP1	NM_018444.4(PDP1):c.500dup:p.Leu167fs	coding	Pathogenic
8	93922908	CCTT	C	T93922910A	PDP1	NM_018444.4(PDP1):c.851_853del:p.Leu284del	coding	Pathogenic
8	94664715	TGATGATAACACCGTAGTCA	T	A94664717G	ESRP1	NM_017697.4(ESRP1):c.665_683del:p.Asp222fs	coding	Pathogenic
8	94781074	TG	T	G94781075C	DPY19L4	NM_181787.3(DPY19L4):c.1633-9del	noncoding	Benign
8	94880161	AAGAAGTGTT	A	G94880163C	INTS8	NM_017864.4(INTS8):c.2917_2925del:p.Glu973_Leu975del	coding	Pathogenic
8	95035242	CTT	C	T95035243A	NDUFAF6	NM_152416.4(NDUFAF6):c.298-211_298-210del	noncoding	Benign
8	95035577	G	GT	A95035579T	NDUFAF6	NM_152416.4(NDUFAF6):c.420+2dup	noncoding	Pathogenic
8	95035578	TA	T	A95035591T	NDUFAF6	NM_152416.4(NDUFAF6):c.420+15del	noncoding	Benign
8	95035578	T	TAA	T95035592A	NDUFAF6	NM_152416.4(NDUFAF6):c.420+14_420+15dup	noncoding	Benign
8	95035578	T	TA	T95035592A	NDUFAF6	NM_152416.4(NDUFAF6):c.420+15dup	noncoding	Benign
8	95041554	GC	G	C95041555T	NDUFAF6	NM_152416.4(NDUFAF6):c.421-15del	noncoding	Benign
8	95041554	GCT	G	C95041557T	NDUFAF6	NM_152416.4(NDUFAF6):c.421-13_421-12del	noncoding	Benign
8	95041555	CT	C	T95041556C	NDUFAF6	NM_152416.4(NDUFAF6):c.421-14del	noncoding	Benign
8	95045545	G	GA	T95045553A	NDUFAF6	NM_152416.4(NDUFAF6):c.485dup:p.Asn162fs	coding	Pathogenic
8	95045620	CTTCTT	C	T95045622A	NDUFAF6	NM_152416.4(NDUFAF6):c.555_559del:p.Tyr187fs	coding	Pathogenic
8	95048568	C	CT	G95048577T	NDUFAF6	NM_152416.4(NDUFAF6):c.816+18dup	noncoding	Benign
8	95259850	TA	T	A95259851T	C8orf37	NM_177965.4(C8orf37):c.363del:p.Asn121fs	coding	Pathogenic
8	95263752	C	CT	A95263759T	C8orf37	NM_177965.4(C8orf37):c.177dup:p.Glu60fs	coding	Pathogenic
8	96231081	CTTTT	C	T96231082C	UQCRB	NM_001254752.1(UQCRB):c.*20_*23del	coding	Pathogenic
8	96231116	TC	T	C96231117A	UQCRB	NM_006294.4(UQCRB):c.274del:p.Glu92fs	coding	Pathogenic
8	97775937	C	CGGCGGGCTCCAGGCGA	T97775959G	LAPTM4B	NM_018407.6(LAPTM4B):c.-67_-52dup	coding	Benign
8	98157799	GC	G	C98157803G	POP1	NM_001145860.2(POP1):c.2607del:p.Glu870fs	coding	Pathogenic
8	99096422	C	CT	A99096425T	VPS13B	NM_015243.2(VPS13B):c.404dup:p.Leu135fs	coding	Pathogenic
8	99103007	ATAAT	A	T99103008C	VPS13B	NM_017890.4(VPS13B):c.468_471del:p.Asn157fs	coding	Pathogenic
8	99103111	GA	G	A99103112T	VPS13B	NM_015243.2(VPS13B):c.572del:p.Asp191fs	coding	Pathogenic
8	99115752	C	CT	A99115754T	VPS13B	NM_015243.2(VPS13B):c.816dup:p.Met273fs	coding	Pathogenic
8	99115834	CCTTA	C	A99115838G	VPS13B	NM_015243.2(VPS13B):c.901_904del:p.Thr301fs	coding	Pathogenic/Likely_pathogenic
8	99121317	GA	G	A99121318C	VPS13B	NM_015243.2(VPS13B):c.1079del:p.Asp360fs	coding	Pathogenic
8	99135129	AG	A	G99135130T	VPS13B	NM_015243.2(VPS13B):c.1418del:p.Ser473fs	coding	Pathogenic
8	99136704	GC	G	C99136705T	VPS13B	NM_152564.5(VPS13B):c.1604del:p.Ala535fs	coding	Pathogenic
8	99192888	TCA	T	C99192889G	VPS13B	NM_017890.4(VPS13B):c.2347_2348del:p.Gln783fs	coding	Pathogenic
8	99274209	A	AT	A99274210T	VPS13B	NM_152564.5(VPS13B):c.2527_2528insT:p.Lys843fs	coding	Pathogenic
8	99275156	G	GGCTC	A99275161G	VPS13B	NM_017890.4(VPS13B):c.2727_2730dup:p.Asn911fs	coding	Pathogenic/Likely_pathogenic
8	99275206	GC	G	C99275208T	VPS13B	NM_152564.5(VPS13B):c.2778del:p.Phe927fs	coding	Pathogenic
8	99384317	GGT	G	G99384318A	VPS13B	NM_017890.4(VPS13B):c.2934+1_2934+2del	coding	Pathogenic/Likely_pathogenic
8	99391647	C	CAATCATATCAGGCCTCTGA	T99391668A	VPS13B	NM_152564.4(VPS13B):c.3027_3045dup:p.Tyr1016delinsIleIleSerGlyLeuTer	coding	Pathogenic/Likely_pathogenic
8	99442535	CCT	C	C99442538G	VPS13B	NM_152564.4(VPS13B):c.3346_3347CT[1]:p.Cys1117fs	coding	Pathogenic
8	99481631	GA	G	A99481633T	VPS13B	NM_152564.5(VPS13B):c.3701del:p.Asn1234fs	coding	Pathogenic
8	99502840	TTGTA	T	T99502843G	VPS13B	NM_152564.5(VPS13B):c.4050_4053del:p.Cys1350fs	coding	Pathogenic
8	99511423	CA	C	A99511424T	VPS13B	NM_017890.4(VPS13B):c.4620del:p.Ser1541fs	coding	Pathogenic
8	99511486	CAG	C	G99511488A	VPS13B	NM_017890.4(VPS13B):c.4684_4685del:p.Glu1562fs	coding	Pathogenic
8	99556505	C	CAAT	C99556510A	VPS13B	NM_017890.4(VPS13B):c.4878_4880dup:p.Tyr1627Ter	coding	Pathogenic/Likely_pathogenic
8	99556577	AGT	A	G99556580C	VPS13B	NM_152564.4(VPS13B):c.4874_4875GT[1]:p.Val1626fs	coding	Pathogenic
8	99575665	CG	C	G99575667C	VPS13B	NM_152564.5(VPS13B):c.4959del:p.His1654fs	coding	Pathogenic
8	99575708	A	AT	C99575714T	VPS13B	NM_017890.4(VPS13B):c.5080dup:p.Ser1694fs	coding	Pathogenic
8	99577551	TAAGTGTGGCTCAAGTTCA	T	A99577553C	VPS13B	NM_017890.4(VPS13B):c.5215_5232del:p.Ser1739_Gln1744del	coding	Pathogenic/Likely_pathogenic
8	99577567	T	CC	T99577567C	VPS13B	NM_017890.4(VPS13B):c.5229delinsCC:p.Gln1744fs	coding	Pathogenic/Likely_pathogenic
8	99577582	GT	G	T99577584A	VPS13B	NM_017890.4(VPS13B):c.5246del:p.Gln1748_Leu1749insTer	coding	Pathogenic
8	99641828	G	GA	G99641835A	VPS13B	NM_017890.4(VPS13B):c.5319dup:p.Val1774fs	coding	Pathogenic
8	99641923	TC	T	C99641924A	VPS13B	NM_017890.4(VPS13B):c.5409del:p.Arg1804fs	coding	Pathogenic/Likely_pathogenic
8	99641931	G	GT	G99641933T	VPS13B	NM_017890.4(VPS13B):c.5417dup:p.Gln1807fs	coding	Pathogenic
8	99641943	CAGCACAGTGGTGCCAGTCAGCA	C	A99641944T	VPS13B	NM_017890.4(VPS13B):c.5429_5450del:p.Gln1810fs	coding	Pathogenic
8	99641973	G	GC	G99641977C	VPS13B	NM_017890.4(VPS13B):c.5461dup:p.Arg1821fs	coding	Pathogenic/Likely_pathogenic
8	99641974	C	CCCGT	C99641981G	VPS13B	NM_017890.4(VPS13B):c.5462_5465dup:p.Arg1824fs	coding	Pathogenic
8	99642117	G	GA	C99642124A	VPS13B	NM_017890.4(VPS13B):c.5608dup:p.Thr1870fs	coding	Pathogenic
8	99642128	C	CA	G99642131A	VPS13B	NM_017890.4(VPS13B):c.5615dup:p.Ser1873fs	coding	Pathogenic
8	99642267	CTT	C	T99642268G	VPS13B	NM_017890.4(VPS13B):c.5753_5754del:p.Leu1918fs	coding	Pathogenic
8	99661365	ACT	A	C99661368G	VPS13B	NM_152564.4(VPS13B):c.5921_5922CT[1]:p.Leu1975fs	coding	Pathogenic
8	99661370	GC	G	C99661372T	VPS13B	NM_017890.4(VPS13B):c.6002del:p.Pro2001fs	coding	Pathogenic
8	99661423	TAG	T	G99661425C	VPS13B	NM_017890.4(VPS13B):c.6055_6056del:p.Asp2019fs	coding	Pathogenic
8	99661451	CT	C	T99661454A	VPS13B	NM_152564.4(VPS13B):c.6009del:p.Phe2003fs	coding	Pathogenic
8	99699620	GCA	G	C99699625G	VPS13B	NM_152564.4(VPS13B):c.6143_6144CA[2]:p.His2049fs	coding	Pathogenic
8	99699772	CAT	C	A99699773G	VPS13B	NM_017890.4(VPS13B):c.6370_6371del:p.Met2124fs	coding	Pathogenic/Likely_pathogenic
8	99699773	ATGTGGAGAGC	A	G99699777T	VPS13B	NM_017890.4(VPS13B):c.6374_6383del:p.Trp2125fs	coding	Pathogenic
8	99699785	GTT	G	T99699787C	VPS13B	NM_017890.4(VPS13B):c.6384_6385del:p.Ser2129fs	coding	Pathogenic
8	99717158	A	AT	C99717168T	VPS13B	NM_017890.4(VPS13B):c.6530-4dup	noncoding	Benign/Likely_benign
8	99717294	G	GTA	G99717295T	VPS13B	NM_152564.4(VPS13B):c.6578_6579insTA:p.Trp2193fs	coding	Pathogenic
8	99720417	GA	G	A99720418G	VPS13B	NM_017890.4(VPS13B):c.6806del:p.Glu2269fs	coding	Pathogenic
8	99720488	AT	A	T99720491A	VPS13B	NM_017890.4(VPS13B):c.6879del:p.Phe2293fs	coding	Pathogenic
8	99721015	AT	A	T99721017A	VPS13B	NM_152564.5(VPS13B):c.7020del:p.Ser2341fs	coding	Pathogenic
8	99766821	TG	T	G99766822C	VPS13B	NM_017890.4(VPS13B):c.7174del:p.Ala2392fs	coding	Pathogenic
8	99766913	CTT	C	T99766914C	VPS13B	NM_152564.5(VPS13B):c.7191_7192del:p.Ser2398fs	coding	Pathogenic
8	99766938	GA	G	A99766940C	VPS13B	NM_017890.4(VPS13B):c.7292del:p.Asn2431fs	coding	Pathogenic
8	99766970	GG	ATGGAGC	G99766970A	VPS13B	NM_017890.4(VPS13B):c.7322_7322+1delinsATGGAGC	coding	Pathogenic
8	99776962	C	CT	A99776971T	VPS13B	NM_017890.4(VPS13B):c.7504+14dup	noncoding	Benign
8	99778797	TTCTG	T	T99778804A	VPS13B	NM_017890.4(VPS13B):c.7623_7626TGTC[1]:p.Cys2543fs	coding	Pathogenic
8	99778934	AG	A	G99778935C	VPS13B	NM_017890.4(VPS13B):c.7758del:p.Lys2586fs	coding	Pathogenic
8	99784362	CT	C	T99784363G	VPS13B	NM_017890.4(VPS13B):c.7903del:p.Cys2635fs	coding	Pathogenic
8	99809474	GGT	G	G99809475C	VPS13B	NM_017890.4(VPS13B):c.8117_8118del:p.Gly2706fs	coding	Pathogenic
8	99809501	GT	G	T99809503C	VPS13B	NM_017890.5(VPS13B):c.8145del:p.Gln2716fs	coding	Pathogenic
8	99817727	AG	A	G99817729C	VPS13B	NM_017890.4(VPS13B):c.8362del:p.Ala2788fs	coding	Pathogenic
8	99818507	AC	A	C99818510A	VPS13B	NM_017890.4(VPS13B):c.8496del:p.Asn2833fs	coding	Pathogenic
8	99818776	GAGAAA	G	A99818779G	VPS13B	NM_152564.5(VPS13B):c.8512_8516del:p.Lys2838fs	coding	Pathogenic
8	99823831	G	GT	A99823834T	VPS13B	NM_017890.4(VPS13B):c.9260dupT:p.Leu3087Phefs	coding	Pathogenic
8	99823945	GCTAT	G	A99823948G	VPS13B	NM_017890.4(VPS13B):c.9375_9378del:p.Val3127fs	coding	Pathogenic/Likely_pathogenic
8	99832368	G	GTTTTTTTTTT	A99832370T	VPS13B	NM_017890.5(VPS13B):c.9406_9407insTTTTTTTTTT:p.Tyr3136fs	coding	Benign
8	99835295	T	TA	T99835301A	VPS13B	NM_017890.4(VPS13B):c.9793dup:p.Met3265fs	coding	Pathogenic
8	99835564	C	CA	T99835572A	VPS13B	NM_017890.4(VPS13B):c.9850dup:p.Ile3284Asnfs	coding	Pathogenic/Likely_pathogenic
8	99853469	T	TA	C99853471A	VPS13B	NM_017890.4(VPS13B):c.10156dup:p.Thr3386fs	coding	Pathogenic/Likely_pathogenic
8	99853553	ACTCACACTGGACAACATTTTTCTCTGTGTGGCCCCGGGAGCTG	A	C99853554G	VPS13B	NM_152564.4(VPS13B):c.10165_10207del:p.Leu3389fs	coding	Pathogenic
8	99853715	TG	T	G99853716T	VPS13B	NM_152564.5(VPS13B):c.10327del:p.Val3443fs	coding	Pathogenic
8	99853809	G	GA	T99853815A	VPS13B	NM_152564.5(VPS13B):c.10425dup:p.Cys3476fs	coding	Pathogenic
8	99861778	AC	A	C99861781T	VPS13B	NM_017890.4(VPS13B):c.11125del:p.Leu3709fs	coding	Pathogenic
8	99861855	CA	T	C99861855T	VPS13B	NM_017890.4(VPS13B):c.11199_11200delinsT:p.Asn3734fs	coding	Pathogenic
8	99861900	C	CGAGG	G99861906A	VPS13B	NM_017890.4(VPS13B):c.11246_11249dup:p.Leu3751fs	coding	Pathogenic
8	99868406	T	TG	T99868412G	VPS13B	NM_017890.4(VPS13B):c.11413dup:p.Val3805fs	coding	Pathogenic/Likely_pathogenic
8	99868436	CT	C	T99868437G	VPS13B	NM_017890.4(VPS13B):c.11439del:p.Ala3814fs	coding	Pathogenic
8	99870801	T	TG	A99870804G	VPS13B	NM_017890.4(VPS13B):c.11486dup:p.Leu3830fs	coding	Pathogenic
8	99870818	C	CCAAA	G99870825A	VPS13B	NM_017890.4(VPS13B):c.11504_11507dup:p.Arg3837fs	coding	Pathogenic
8	99870878	AAT	A	A99870881G	VPS13B	NM_017890.4(VPS13B):c.11562_11563AT[1]:p.Tyr3855fs	coding	Pathogenic
8	99871471	GA	G	A99871472C	VPS13B	NM_152564.4(VPS13B):c.11520del:p.Arg3840fs	coding	Pathogenic
8	99871568	GGTGA	G	A99871572T	VPS13B	NM_017890.4(VPS13B):c.11695_11698del:p.Ser3901fs	coding	Pathogenic/Likely_pathogenic
8	99871603	TC	T	C99871607G	VPS13B	NM_152564.5(VPS13B):c.11655del:p.Val3886fs	coding	Pathogenic
8	99871622	CTG	C	T99871625C	VPS13B	NM_152564.5(VPS13B):c.11673_11674del:p.Ala3892fs	coding	Pathogenic
8	99871657	CAGTG	AGAA	C99871657A	VPS13B	NM_152564.4(VPS13B):c.11705_11709delinsAGAA:p.Thr3902fs	coding	Pathogenic/Likely_pathogenic
8	99875499	G	GC	A99875505C	VPS13B	NM_017890.4(VPS13B):c.11907dup:p.Ser3970fs	coding	Pathogenic/Likely_pathogenic
8	99876094	CTAT	C	T99876100A	VPS13B	NM_152564.4(VPS13B):c.*431_*433TTA[1]	noncoding	Benign
8	99876364	CTGA	C	G99876369T	VPS13B	NM_152564.4(VPS13B):c.*700_*702GAT[1]	noncoding	Benign
8	100177838	AAG	A	G100177840A	SPAG1	NM_003114.4(SPAG1):c.325_326del:p.Glu109fs	coding	Pathogenic
8	100182303	GGCCACTGTTAGTGCTTGGTTAGGATGGGCCCATGACCCAAGCTAGCCAATCAGTCCTTCCTTGGAATTTCTCTAACTGAAGATGGAGAGAAGAGTCACTCTCCTTTTCCTCTGGTGGAGAGAGCTGTGAGGTTATAATTCCAGAATGCTTGTGGTGATGTTTCCTGCCACATGGAGAAAGCAAGTACCCATCAGGGAAAGTGAAATCAGTAGGTAGAGAGGAGCAGAACCTGGGAGGGGCAGGGAGAGCTGGAGAAAGGGCATAGGAATCCCCTCATCCAGCAGCACCCTTGCCCTTCCATCAGTTTAGTTATATAAGCTGATAATTTCTTCTTTTTTAATGTAATTATTCCAAATCAGATTACTATCATTGCAAACTTCTGACTAATATAGCAATTATTCTTGTTTCTCCAATGCCTAGGTTTGAAAAGAATGAATCAGAATTTAGTACTTTTTTATTATAAGAAAATCAGTAATAATCATATTCACACATAAGTTTTAAAATTTTATATGTATATACTTAAAAACCTATAGATTGTCCCCAGAATTAACTATAAATTTAAAATTCTTTCTTTTACATGCTGTATATTATTATGTTAATAACTGTAATACTGAAGTTATTATAACTTCCAGGGTACCTATTTTTCTTATCCATTCCATTTGTATATCTTTATTTTATTTTTATTTTTTTGAGACAGTTTCTCTTTGTCACCCAGGCTGGAGTGTAGTTGCTCGATCTCTGCTCACTGCAACCTCCACCTCCCAGGTTCAAGCAATTCTCATGCTTCAACCTCCAAGTACCTGGGATTAAAGGTGTGCGCCACCATGCCCAGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAGGCGGGTCTGGAACTCCTGGCCTCAAGTGAGCTGTCCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGTCCCCGCACCTGGCTTCCATTTGTATATCTTAACCCAATACTTTCCATTGCATTTACAGTAAAACCTGATAATCTTATATTAAATATGTCTCATAAAATATGATTTTATTCTTTTAGGAAAAATATTCTAAAAGACCAACTAAAAAGAAAACTCCAAGGGATTACGCGGAATGGGATAAGTATGTTTTACATGTCTTTATATAAAATGTATCACTAAAAAAGTTATCTACCACAAAATACTGCAATAATTTCTTAAATAATTATTATAAACCTTAACATGTCAAGAATACCAAATTACTTCAATAGAGTACTGAGAATATCTGGCCTCAGCACTTTTGATGTTTTTTTCAGTACATAAAAAACTTCTACATCCTATTTTTTTATAAAGTCAGCCAAAAAAACTAATGTATTTTTTATACCCATCCAAACTAAAAAGGAACAAAAATTTAAAATTGAGATAAGTTAGTCAAAATTTTAATTTCAAAGTTCTGACCAGTTTAGATTTGATTAACGTTTAAGTTCTCACTAAATTGTATGTTTTCTTAAGAAGGAACTCAGATGACTTGAACTATTAACTTACTACATATTTTTGAATATGTATCCAAAGGCATACTTGTACAAATATAAGAATATCAATGATAAATTTATTTTCTTGCCTGTATTGTACTTTTTTGGTTTTTATTGTTCTTTCATTTAAGATTTGACGTGGAGAAGGAATGTTTAAAAATTGATGAAGATTACAAAGAAAAGACGGTAATAGACAAGTCACACTTGTCTAAAATTGAGACAAGAATAGATACAGCAGGTAATTGGAGAAAAAATAATAATTTAGTAGTCTTTAAAGTTTTTCAATTATAATAAAAAGTGTCAATCTAGAAGACATTGTCTTTGAGTACTGCACAGATTACCATGAAAAGTTTATGGATTTTCTCTTACAGTTGACCACTCAACAAATTCACTTCTCTCTTTTACCCACTTAATTTTTAAATGTAGTAAGGCTTTAAAATATAAACCTATTTTTCTTACTGTAATTCATTTGTTTTTAATTCCTTTTTTCCAATCCTCTTTTTCCTCCAAATTCCTAAAATTGTTTTCTTTTTGCTTCAAAACAAAAAGATGGGGCAGTTTATTGGACTAGCACCTATAAAGTGAAACGAAATCAATCATTAAAAAAATTCTGAATCCTCAAAACTTGTGAATGATTTAAAAAGAAAACATCCCTAAGCTTGGGGAACCTTTTATTTTCTTTTGTTTATTTTATGATCTTTCTGCTTTCTTCTGCTTCTGTTAAAATAAGCATTCTTAGATTTAAACTTGAAAAATTCTGTTAAATTATACGTTTACATATAGCAGATAACATTTATTTCTAGGTCTAACTGAGAAAGAAAAGGATTTTCTT	G	G100182310C	SPAG1	NM_172218.2(SPAG1):c.427-1065_630del	noncoding	Pathogenic
8	100184629	TCTAA	T	A100184632G	SPAG1	NM_003114.5(SPAG1):c.600_603del:p.Thr201fs	coding	Pathogenic
8	100187177	CA	C	A100187180T	SPAG1	NM_003114.5(SPAG1):c.762del:p.Lys254fs	coding	Pathogenic
8	100187258	AT	A	T100187259A	SPAG1	NM_003114.5(SPAG1):c.832+9del	noncoding	Benign
8	100191453	TGAGTA	T	G100191454A	SPAG1	NM_003114.4(SPAG1):c.897_901del:p.Lys301fs	coding	Pathogenic
8	100191454	GAGTAA	G	A100191459C	SPAG1	NM_003114.4(SPAG1):c.902_906del:p.Lys301fs	coding	Pathogenic
8	100194231	A	AGAC	A100194232G	SPAG1	NM_172218.2(SPAG1):c.1059_1060insGAC:p.Ser354_Gly355insAsp	coding	Benign
8	100213264	CGGCGGCGGCGGCG	C	G100213275C	SPAG1	NM_003114.5(SPAG1):c.1282_1294del:p.Ala428fs	coding	Pathogenic
8	100213901	C	CA	T100213903A	SPAG1	NM_172218.2(SPAG1):c.1519dup:p.Ile507fs	coding	Pathogenic
8	100220378	AAC	A	C100220380G	SPAG1	NM_003114.5(SPAG1):c.1637_1638del:p.Thr546fs	coding	Pathogenic
8	100231158	G	GA	C100231165A	SPAG1	NM_003114.4(SPAG1):c.1864dup:p.Thr622fs	coding	Pathogenic
8	100233504	CTA	C	T100233507G	SPAG1	NM_003114.4(SPAG1):c.2083_2084TA[1]:p.Tyr695_Arg696delinsTer	coding	Pathogenic
8	100240660	AG	A	G100240664A	SPAG1	NM_172218.2(SPAG1):c.2542del:p.Asp848fs	coding	Pathogenic
8	100712798	C	CA	G100712808A	PABPC1	NM_002568.4(PABPC1):c.739-18dup	noncoding	Benign
8	101492921	GA	G	A101492922T	GRHL2	NM_024915.4(GRHL2):c.20+133del	noncoding	Pathogenic/Likely_pathogenic
8	101558399	CG	C	G101558405T	GRHL2	NM_024915.4(GRHL2):c.285-14del	noncoding	Benign
8	101644221	G	GC	G101644223C	GRHL2	NM_024915.4(GRHL2):c.1609dup:p.Arg537fs	coding	Pathogenic
8	102206238	T	TA	T102206248A	RRM2B	NM_001172477.1(RRM2B):c.*1894dup	noncoding	Benign
8	102208223	A	AT	G102208227T	RRM2B	NM_001172477.1(RRM2B):c.1181dup:p.Asn394fs	coding	Pathogenic
8	102208238	TA	T	A102208241G	RRM2B	NM_001172477.1(RRM2B):c.1166del:p.Ser388_Leu389insTer	coding	Pathogenic
8	102208268	AT	A	T102208272C	RRM2B	NM_001172477.1(RRM2B):c.1136del:p.Asn379fs	coding	Pathogenic
8	102218913	TC	T	C102218915T	RRM2B	NM_001172477.1(RRM2B):c.800del:p.Gly267fs	coding	Pathogenic
8	102224068	T	TC	A102224069C	RRM2B	NM_015713.5(RRM2B):c.527_528insG:p.Ile176fs	coding	Pathogenic
8	102232242	CTT	C	T102232244C	RRM2B	NM_015713.5(RRM2B):c.109_110del:p.Lys37fs	coding	Pathogenic
8	102238611	C	CG	A102238613G	RRM2B	NM_001172477.1(RRM2B):c.211dup:p.Arg71fs	coding	Benign
8	102312492	GTA	G	T102312495G	UBR5	NM_015902.6(UBR5):c.2008-9_2008-8del	noncoding	Benign
8	102326671	C	CA	C102326678A	UBR5	NM_015902.6(UBR5):c.1482-14dup	noncoding	Benign
8	102560795	AGCCCCTGC	A	G102560796A	ODF1	NM_024410.4(ODF1):c.665_672del:p.Ser222fs	coding	Benign
8	102560804	AACCCGTGCAG	A	A102560805C	ODF1	NM_024410.4(ODF1):c.674_683del:p.Asn225fs	coding	Benign
8	105801037	GTC	G	C105801043A	ZFPM2	NM_012082.4(ZFPM2):c.965-9TC[2]	noncoding	Benign
8	105801897	CCTT	C	T105801900C	ZFPM2	NM_012082.4(ZFPM2):c.1818_1820del:p.Leu607del	coding	Benign
8	106706843	CA	C	A106706845G	OXR1	NM_018002.3(OXR1):c.1324del:p.Ser442fs	coding	Pathogenic/Likely_pathogenic
8	107989213	AC	A	C107989216T	RSPO2	NM_178565.5(RSPO2):c.125del:p.Gly42fs	coding	Pathogenic
8	115414380	A	AG	A115414383G	TRPS1	NM_014112.5(TRPS1):c.3527dup:p.Leu1177fs	coding	Pathogenic
8	115414446	A	AT	A115414448T	TRPS1	NM_014112.5(TRPS1):c.3461dup:p.Tyr1154Ter	coding	Pathogenic
8	115414483	CT	C	T115414484C	TRPS1	NM_014112.5(TRPS1):c.3424del:p.Ser1142fs	coding	Pathogenic
8	115414588	AG	A	G115414589T	TRPS1	NM_014112.5(TRPS1):c.3319del:p.Leu1107fs	coding	Pathogenic
8	115414704	T	TA	C115414706A	TRPS1	NM_014112.5(TRPS1):c.3203dup:p.Ser1069fs	coding	Pathogenic
8	115414767	AG	A	G115414769T	TRPS1	NM_014112.5(TRPS1):c.3140del:p.Pro1047fs	coding	Pathogenic
8	115414830	GC	G	C115414831T	TRPS1	NM_014112.5(TRPS1):c.3077del:p.Ser1026fs	coding	Pathogenic
8	115414923	CCTCT	C	C115414926A	TRPS1	NM_014112.5(TRPS1):c.2979_2980AG[1]:p.Glu994fs	coding	Pathogenic
8	115414947	T	TTGCTC	C115414953T	TRPS1	NM_014112.5(TRPS1):c.2956_2960dup:p.Val988fs	coding	Pathogenic
8	115415008	T	TTAAGGCGC	T115415018A	TRPS1	NM_014112.5(TRPS1):c.2892_2899dup:p.Asn967fs	coding	Pathogenic
8	115415027	TC	T	C115415029T	TRPS1	NM_014112.5(TRPS1):c.2880del:p.Arg961fs	coding	Pathogenic
8	115415048	C	CGTTGTTTT	T115415060G	TRPS1	NM_014112.5(TRPS1):c.2852_2859dup:p.Gly954fs	coding	Pathogenic
8	115418369	A	AG	T115418370G	TRPS1	NM_014112.5(TRPS1):c.2783_2784insC:p.Val929fs	coding	Pathogenic
8	115418427	C	CA	C115418434A	TRPS1	NM_014112.5(TRPS1):c.2725dup:p.Cys909fs	coding	Pathogenic
8	115587034	GT	G	T115587038C	TRPS1	NM_014112.5(TRPS1):c.2666del:p.Asn889fs	coding	Pathogenic
8	115587306	T	TG	A115587309G	TRPS1	NM_014112.5(TRPS1):c.2394dup:p.Ser799fs	coding	Pathogenic
8	115587344	TTC	T	C115587348T	TRPS1	NM_014112.5(TRPS1):c.2353_2354GA[1]:p.Lys786fs	coding	Pathogenic
8	115587356	TTC	T	C115587364T	TRPS1	NM_014112.5(TRPS1):c.2337_2338GA[3]:p.Lys782fs	coding	Pathogenic
8	115587496	AGTGATGTCCT	A	G115587499T	TRPS1	NM_014112.5(TRPS1):c.2195_2204del:p.Gln732fs	coding	Pathogenic
8	115587520	AAC	A	C115587522G	TRPS1	NM_014112.5(TRPS1):c.2179_2180del:p.Val727fs	coding	Pathogenic
8	115587590	CA	C	A115587591G	TRPS1	NM_014112.5(TRPS1):c.2110del:p.Cys704fs	coding	Pathogenic
8	115604202	C	CT	C115604207T	TRPS1	NM_014112.4(TRPS1):c.1766dup:p.His590Alafs	coding	Pathogenic
8	115604263	ATGTTATGGAGC	A	A115604268G	TRPS1	NM_014112.5(TRPS1):c.1695_1705del:p.Gln565fs	coding	Pathogenic
8	115604318	GGC	G	G115604319C	TRPS1	NM_014112.5(TRPS1):c.1649_1650del:p.Gly550fs	coding	Pathogenic
8	115604508	CT	C	T115604510A	TRPS1	NM_014112.5(TRPS1):c.1460del:p.Lys487fs	coding	Pathogenic
8	115604541	C	CT	G115604543T	TRPS1	NM_014112.5(TRPS1):c.1427dup:p.Ser477fs	coding	Pathogenic
8	115604737	T	TG	C115604739G	TRPS1	NM_014112.5(TRPS1):c.1231dup:p.Gln411fs	coding	Pathogenic
8	115604789	TGTTA	T	T115604791A	TRPS1	NM_014112.5(TRPS1):c.1176_1179del:p.Asn393fs	coding	Pathogenic
8	115604792	TAG	T	A115604795T	TRPS1	NM_014112.5(TRPS1):c.1173_1174CT[1]:p.Asn391_Ser392insTer	coding	Pathogenic
8	115604792	T	TA	G115604794A	TRPS1	NM_014112.5(TRPS1):c.1176dup:p.Asn393Ter	coding	Pathogenic
8	115604951	G	GGCAA	T115604956G	TRPS1	NM_014112.5(TRPS1):c.1014_1017dup:p.Gln340fs	coding	Pathogenic
8	115604954	A	AATCTG	G115604960A	TRPS1	NM_014112.5(TRPS1):c.1010_1014dup:p.Cys339fs	coding	Pathogenic
8	115619595	T	TTCTGATCTTCCTTTGTCTCCAGTGA	G115619621T	TRPS1	NM_014112.5(TRPS1):c.478_502dup:p.Lys168fs	coding	Pathogenic
8	115619605	CCTTT	C	C115619606G	TRPS1	NM_014112.5(TRPS1):c.489_492del:p.Glu165fs	coding	Pathogenic
8	115623645	T	TA	G115623647A	TRPS1	NM_014112.5(TRPS1):c.-9dup	coding	Benign
8	116848998	TG	T	G116848999A	RAD21	NM_006265.2(RAD21):c.1651del:p.Gln551fs	coding	Pathogenic
8	116850687	T	TG	T116850690G	RAD21	NM_006265.2(RAD21):c.1550dup:p.Glu518fs	coding	Pathogenic
8	116850690	T	GA	T116850690G	RAD21	NM_006265.3(RAD21):c.1548delinsTC:p.Glu518fs	coding	Pathogenic
8	116852645	CTCCTCCTT	C	C116852655T	RAD21	NM_006265.3:c.1217_1224del	coding	Pathogenic
8	116852713	TA	T	A116852727G	RAD21	NM_006265.3(RAD21):c.1162-6del	noncoding	Benign
8	116856292	TAAAAAA	T	A116856310G	RAD21	NM_006265.3(RAD21):c.815-10_815-5del	noncoding	Benign
8	116856292	TAAAAA	T	A116856311G	RAD21	NM_006265.3(RAD21):c.815-9_815-5del	noncoding	Benign
8	116856292	T	TAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	G116856316A	RAD21	NM_006265.3(RAD21):c.815-5_815-4insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	noncoding	Benign
8	116856292	T	TAAA	G116856316A	RAD21	NM_006265.3(RAD21):c.815-27_815-25dup	noncoding	Benign
8	116857361	G	GCT	G116857366C	RAD21	NM_006265.2(RAD21):c.592_593dup	coding	Pathogenic
8	116857375	C	CT	A116857377T	RAD21	NM_006265.2(RAD21):c.579dup:p.Glu194fs	coding	Pathogenic
8	116863221	C	CAG	T116863224A	RAD21	NM_006265.2(RAD21):c.181_182dup:p.Gly62fs	coding	Pathogenic
8	116866667	GGCCGCTA	G	G116866671A	RAD21	NM_006265.2(RAD21):c.56_62del:p.Leu19fs	coding	Pathogenic
8	117799833	G	GT	A117799835T	EXT1	NM_000127.3(EXT1):c.2119dup:p.Thr707fs	coding	Pathogenic
8	117799837	TC	T	C117799838A	EXT1	NM_000127.3(EXT1):c.2115del:p.Met705fs	coding	Pathogenic
8	117799875	GC	G	C117799878A	EXT1	NM_000127.3(EXT1):c.2077del:p.Ala693fs	coding	Pathogenic
8	117799893	GA	G	A117799895G	EXT1	NM_000127.2(EXT1):c.2059del:p.Ser687fs	coding	Pathogenic
8	117804729	ATCAT	A	C117804731G	EXT1	NM_000127.3(EXT1):c.2044_2047del:p.Met682fs	coding	Pathogenic
8	117804772	GA	G	A117804773G	EXT1	NM_000127.2(EXT1):c.2004del:p.Pro669fs	coding	Pathogenic
8	117804805	TC	T	C117804806A	EXT1	NM_000127.3(EXT1):c.1971del:p.Met657fs	coding	Pathogenic
8	117804811	GA	G	A117804813T	EXT1	NM_000127.3(EXT1):c.1965del:p.Leu656fs	coding	Pathogenic
8	117804817	CCTCACAAT	C	C117804818T	EXT1	NM_000127.3(EXT1):c.1952_1959del:p.Asn651fs	coding	Pathogenic
8	117804832	AT	A	T117804834G	EXT1	NM_000127.3(EXT1):c.1944del:p.Gln648fs	coding	Pathogenic
8	117804851	CA	C	A117804852G	EXT1	NM_000127.3(EXT1):c.1925del:p.Leu642fs	coding	Pathogenic
8	117804891	T	TA	T117804893A	EXT1	NM_000127.3(EXT1):c.1885dup:p.Tyr629fs	coding	Pathogenic
8	117807293	T	TA	G117807295A	EXT1	NM_000127.3(EXT1):c.1806dup:p.Lys603Ter	coding	Pathogenic
8	117807325	TACCCC	T	C117807328A	EXT1	NM_000127.3(EXT1):c.1770_1774del:p.Gly591fs	coding	Pathogenic
8	117807326	AC	A	C117807330A	EXT1	NM_000127.3(EXT1):c.1773del:p.Tyr592fs	coding	Pathogenic
8	117807373	T	TA	C117807374A	EXT1	NM_000127.2(EXT1):c.1726_1727insT:p.Asp576fs	coding	Pathogenic
8	117812874	CTG	C	G117812876T	EXT1	NM_000127.3(EXT1):c.1718_1719del:p.Thr573fs	coding	Pathogenic
8	117812892	T	TGTCCTCGTCAAGGCTGA	C117812911T	EXT1	NM_000127.2(EXT1):c.1685_1701dup:p.Thr568fs	coding	Pathogenic
8	117812912	ACGGCG	A	C117812913T	EXT1	NM_000127.3(EXT1):c.1677_1681del:p.Val561fs	coding	Pathogenic
8	117812914	G	GGC	T117812918C	EXT1	NM_000127.3(EXT1):c.1678_1679dup:p.Val561fs	coding	Pathogenic
8	117812916	C	CGTCTGTGATGACA	T117812928C	EXT1	NM_000127.3(EXT1):c.1677_1678insTGTCATCACAGAC:p.Ala560fs	coding	Pathogenic
8	117812923	GATGATGTTGTCGTAGGGCAGAAAACGGCTGCTCATAACCTGGGAGGAAGTAGAAGTAGGCAGTGGGGAGGGA	G	T117812928G	EXT1	NM_000127.2(EXT1):c.1633-34_1670del	coding	Pathogenic
8	117812929	G	GT	G117812932T	EXT1	NM_000127.2(EXT1):c.1664dup:p.Asn555fs	coding	Pathogenic
8	117812934	CG	C	G117812935T	EXT1	NM_000127.3(EXT1):c.1659del:p.Pro552_Tyr553insTer	coding	Pathogenic
8	117812937	AG	A	G117812940C	EXT1	NM_000127.3(EXT1):c.1656del:p.Tyr553fs	coding	Pathogenic
8	117818433	A	AC	T117818436C	EXT1	NC_000008.11:g.117818435dup	noncoding	Pathogenic
8	117818449	C	CA	T117818452A	EXT1	NM_000127.3(EXT1):c.1617dup:p.Glu540Ter	coding	Pathogenic
8	117818499	AG	A	G117818503C	EXT1	NM_000127.3(EXT1):c.1567del:p.Leu523fs	coding	Pathogenic
8	117819742	CA	C	A117819743G	EXT1	NM_000127.2(EXT1):c.1469del:p.Leu490fs	coding	Pathogenic
8	117819743	A	AG	T117819750G	EXT1	NM_000127.2(EXT1):c.1468dup:p.Leu490fs	coding	Pathogenic
8	117819743	AG	A	G117819749T	EXT1	NM_000127.2(EXT1):c.1468del:p.Leu490fs	coding	Pathogenic
8	117819746	GGGGTC	G	G117819747A	EXT1	NM_000127.3(EXT1):c.1461_1465del:p.Thr488fs	coding	Pathogenic
8	117819771	T	TGAATTTG	G117819781A	EXT1	NM_000127.3(EXT1):c.1434_1440dup:p.Thr481fs	coding	Pathogenic
8	117819780	A	AG	C117819787G	EXT1	NM_000127.2(EXT1):c.1431dup:p.Ser478fs	coding	Pathogenic
8	117819780	AG	A	G117819786C	EXT1	NM_000127.3(EXT1):c.1431del:p.Ser478fs	coding	Pathogenic
8	117819793	AC	A	C117819795T	EXT1	NC_000008.11:g.117819794del	coding	Pathogenic
8	117822476	TA	T	A117822477G	EXT1	NM_000127.3(EXT1):c.1405del:p.Tyr469fs	coding	Pathogenic
8	117822480	AG	A	G117822481T	EXT1	NM_000127.2(EXT1):c.1401del:p.Tyr468fs	coding	Pathogenic
8	117822481	G	GT	A117822483T	EXT1	NM_000127.3(EXT1):c.1400dup:p.Tyr467Ter	coding	Pathogenic
8	117822531	CT	C	T117822532C	EXT1	NM_000127.3(EXT1):c.1350del:p.Gly451fs	coding	Pathogenic
8	117822557	CTG	C	G117822559T	EXT1	NM_000127.3(EXT1):c.1323_1324del:p.Asn441fs	coding	Pathogenic
8	117822561	T	TA	C117822563A	EXT1	NM_000127.3(EXT1):c.1320dup:p.Asn441Ter	coding	Pathogenic
8	117830278	CC	G	C117830278G	EXT1	NM_000127.3(EXT1):c.1235_1236delinsC:p.Trp412fs	coding	Pathogenic
8	117830279	CA	C	A117830280C	EXT1	NM_000127.3(EXT1):c.1234del:p.Trp412fs	coding	Pathogenic
8	117830293	CT	C	T117830294G	EXT1	NM_000127.3(EXT1):c.1220del:p.Gln407fs	coding	Pathogenic
8	117830295	GCTGT	G	G117830298A	EXT1	NM_000127.3(EXT1):c.1215_1218del:p.Arg405fs	coding	Pathogenic
8	117830346	GA	G	A117830348T	EXT1	NM_000127.3(EXT1):c.1167del:p.Pro390fs	coding	Pathogenic
8	117835455	ATC	A	T117835460A	EXT1	NM_000127.3(EXT1):c.1151_1152del:p.Arg384fs	coding	Pathogenic
8	117837106	ACCTGC	A	C117837107A	EXT1	NM_000127.2(EXT1):c.1053_1056+1del	noncoding	Pathogenic
8	117837175	T	TGA	T117837176G	EXT1	NM_000127.2(EXT1):c.988_989insTC:p.Asn330fs	coding	Pathogenic
8	118108269	AGCTGAAATCTCAGCTTTAGCCCTTTTAGAAGGATGAAGAACAGAATCCTTCCACAGAATTCTTTGAGACTGCTTTAGAAGACACTGAAAGGTTAGACTTCATCTCGAGTTACTCCACCATAAACCAGACAAAGAAATTCCTGAAAGGCTATAAGCATTTTTTTCTTACAAGCACCCACAGGAATAGGTCAATGTAAATGTCGTATAAACAAAGCAGTTCATTACTAACCATAGTTTAAATGTCTTTTATGAGAAAACTGTAATCCATTGCAACTGCACATTCATACATAACTGCCCCTGGATGAGAGGAAAATATGGATTCATAATTGATCTTAGTCTCCGGCTTTTCTTATGCCTGAAAAGCAAAAGGTATTGGGGGTTGGAAAGCTGAATCTGAGTGCTTGATACTTTCTCCTTCACTCTCTATGATCAAGTCTTGGAGGACTTTAATTTCCCTTCCAATCACTCCTATAGAGGCCCTAGTGTCTGAAAAAATGCACAGACGACAATCAAACCTTTCATTTCAAGGCCAGTTTCCCACCATACCCCTTCCTGTTCCAATCAGGTTTGCGAAACATTTCCCCTATTCTGCATTTCATGAATCAATTGCAAAATCTGCCAACCTCTGCCAGTTCCTCTTGTACTCAGCTGAGAGGTTCCCCTTCCTTCCCTGGGTAGCACAAGGCTGCTCTGGTTTTTAACTGGCGTAACGTGGAAATGCACTGTAGGAACTCACTAACTCTTTCACAGCCAGATGTAAGTGAGAGTCTGGGCGGCAACCCCACCTACTAGGAAACTGGTCCACCAAGCTCAGGATAAAGCAGATTTGTGGAATTTAGCTTTGACTCCAAATCCCGTGTCAGTTACTGTCACGGGGAAGGAAAAAGGAAGAGTGAAAAGGTCTACAAAGTAACCAATTCAGTTACTTAGCAACTGGACAAAACTTGCCTCACTACAGAGGGTAAGGAGGCATCTCACACCCATTCAAAGAGTAACAGTCTACAATTTACATGCAAATAGATAAAGAAAAAAGGGAACGGGAAATCTAAATTAGCAACTGGAGTTTAGACAGTGAGACTGAGGCCCACATTTAAAAAAAAAAAAAAAGTTTATCCTAGGAAAGAGACAGGACATGTACAGAAATGAATGAATTAATAAATGAATGAATGAATGAATGCATGCATGCATGCATGCATGCAAAGCCACAGGCCCAACAAGTTTACAGTCTCCCTTCATAAAAGTCAATGCCACGGGGGAGAGAGGAAAGGGCCACACAAAGTTCGATACAATTTAAACATTTCCACGGCTAACATGAATTACAGGCTTACAGAAAATGTGAAGTTGGGAAAACTCCTGGGAAAGTAGGTACCCCCGCTCATGAGAAAAGCAAACAAAAGCATCACTCTTGGTGGAAGGTCTCTGGACTTTGGGTAGATCACAGCCTCTCCGGGTCTCTAGATACCCTCAGAAACACCCTCCAGTACCCATGCCTGAAATGCAGTTACTAAACTTGGATCTAACCCCGACTCTTAACAGGAGACACGCCGCCCTGCAGGTTTCCTAAGCAAGAGGGAGATACTGTCACCTACTTGGCTCGAGAAGGTGCTCCAGGCTTTTCAGTTTGCCCGAGGAGCTCCAACTCTCTGTCCCCAGCCTCTAGCTGCACACCCGAACCGGATTTGCTCAGTTCCAGGCTCAAAGGGGAAAGAGGACTGAGGGCTCATCCGCCCTCACCCCATCCCCCAACTTCACACCTGGACCAAGGCCGGCAGAGCCCAAGGCTGACTCCCAAAGACACGCCAGCCCAGACACTTACTTCTCATACTCGGTGTTGTCTCTGTCACAGCGAGAATCCTTGTGCTTTTGCCAGTCTTTGCCATGCTTGCAGGTGGTGAGGAGCACAACGTCCTCCCCGTTATGGACGTGATATAAGGCATTCCTGGTGTCTGATCCTATCCCTGTCAGGTACCTCTTCCCCTTGAATACCAGCATGTACTTCCTGAGAGGAGGGATGGTGTTGAACTTCAAAAACCCCCTCTCCCCTCCTGTCCTGGGATGATCCTTAGAAAAGAGGGGAATAGAAACATCAAAGTTGGGTCGGAAGTTTTCAGTACTGATGCTGGCTTTGGCCAGCATCGCCTGGCCGATGTCAAACCCCACGTCCTCGGTGTAGTCAGGCCAAGTGCCGGAATATAAATTAAAAATTAAATGATTCCTACCATTGTTCCACAAGTGGAGACTCTGCACTTTGGATCTCAAATTGTGCACATACTGAGGTGACAACTGGTCTCTGTCTAAAGTATCCAGACTCAGGACAAAGAGGCACGCCTGGCTGGGGTCCGAGGTGTAGAACCTGGAGCCCTCGATGGCCGCTAGAATGTTTTGGTAACTTTCGGCGATTTTCTCCCCTTTTTGCTGTGGGTATACGTAGACTTTGAAGCCGTTTTTCTTGCAAAGGGTGAAATCGAAGCAGGACTCCATGCGGCACTTCTTGCCTTTGTAGATGCTGGAGTTGGCATCTCGCTTCTGCCGGGGGGAAATGTGCACGCTGGAATCCTCGTTTTCCAATTGATCCCAAGGAACGAAGGGGCGCAGAGCGTCCGGGAAGCGGGGCCAGAAATGATCCGGACTGGGGTGGTGCAAGCCATTCCTACC	A	A118108274T	EXT1	NM_000127.3(EXT1):c.124_962+1815del	noncoding	Pathogenic
8	118110073	CCAGA	C	G118110076C	EXT1	NM_000127.2(EXT1):c.962+8_962+11del	noncoding	Benign
8	118110078	CACTT	C	A118110083C	EXT1	NM_000127.2(EXT1):c.962+3_962+6del	noncoding	Pathogenic
8	118110129	C	CT	G118110134T	EXT1	NM_000127.2(EXT1):c.917dup:p.His307fs	coding	Pathogenic
8	118110192	G	GT	G118110194T	EXT1	NM_000127.2(EXT1):c.854dup:p.His285fs	coding	Pathogenic
8	118110200	AG	A	G118110202C	EXT1	NM_000127.2(EXT1):c.846del:p.Leu283fs	coding	Pathogenic
8	118110224	TCCCTG	GCCTT	T118110224G	EXT1	NM_000127.3(EXT1):c.818_823delinsAAGGC:p.Thr273fs	coding	Pathogenic
8	118110224	TC	T	C118110227T	EXT1	NM_000127.3(EXT1):c.822del:p.Gly274_Ile275insTer	coding	Pathogenic
8	118110226	CCT	C	C118110227G	EXT1	NM_000127.2(EXT1):c.819_820del:p.Gly274fs	coding	Pathogenic
8	118110248	TG	T	G118110249A	EXT1	NM_000127.2(EXT1):c.798del:p.Phe266fs	coding	Pathogenic
8	118110273	A	AGG	A118110276G	EXT1	NM_000127.3(EXT1):c.772_773dup:p.Arg260fs	coding	Pathogenic
8	118110299	A	AC	T118110305C	EXT1	NM_000127.3(EXT1):c.747dup:p.Phe250fs	coding	Pathogenic
8	118110348	AG	A	G118110349A	EXT1	NM_000127.3(EXT1):c.698del:p.Ser233fs	coding	Pathogenic
8	118110360	G	GT	G118110363T	EXT1	NM_000127.3(EXT1):c.686dup:p.Asn229fs	coding	Pathogenic
8	118110371	AGTTTTCAGTACTGATGCTGGCTTTGGCCAGCATC	A	T118110373C	EXT1	NM_000127.2(EXT1):c.642_675del:p.Met215fs	coding	Pathogenic
8	118110372	GT	G	T118110376C	EXT1	NM_000127.3(EXT1):c.674del:p.Asn225fs	coding	Pathogenic
8	118110377	CAGTACTGATGCTGGCTTTGGCCAGCATCGCCTGGCCGATGTCAAACCCCACGTCCTCGGTGTAGTCAGGCCA	C	A118110381G	EXT1	NM_000127.2(EXT1):c.598_669del:p.Trp200_Thr223del	coding	Pathogenic
8	118110383	TGATGCTGGCTTTG	AAA	T118110383A	EXT1	NM_000127.3(EXT1):c.651_664delinsTTT:p.Lys218fs	coding	Pathogenic
8	118110383	TGATGCTGGCTTTGGCCAGCATC	T	A118110385C	EXT1	NM_000127.2(EXT1):c.642_663del:p.Met215fs	coding	Pathogenic
8	118110383	TGATGCTGGCTTTG	T	A118110385C	EXT1	NM_000127.2(EXT1):c.651_663del:p.Lys218fs	coding	Pathogenic
8	118110384	GATGCTGGCTTTGGC	G	A118110385C	EXT1	NM_000127.3(EXT1):c.649_662del:p.Ala217fs	coding	Pathogenic
8	118110399	C	CAGCA	T118110404A	EXT1	NM_000127.2(EXT1):c.644_647dup:p.Lys218fs	coding	Pathogenic
8	118110503	GGA	G	G118110506C	EXT1	NM_000127.2(EXT1):c.540_541TC[1]:p.Leu181fs	coding	Pathogenic
8	118110507	ACT	A	C118110510G	EXT1	NM_000127.3(EXT1):c.536_537AG[1]:p.Leu181fs	coding	Pathogenic
8	118110511	TGCACTTTG	T	C118110513A	EXT1	NM_000127.2(EXT1):c.528_535del:p.Lys177fs	coding	Pathogenic
8	118110512	G	GCA	T118110516A	EXT1	NM_000127.2(EXT1):c.533_534dup:p.Gln179fs	coding	Pathogenic
8	118110525	CA	C	A118110528T	EXT1	NM_000127.2(EXT1):c.521del:p.Asn173_Leu174insTer	coding	Pathogenic
8	118110530	T	TTA	G118110531T	EXT1	NM_000127.3(EXT1):c.516_517insTA:p.Asn173Ter	coding	Pathogenic
8	118110555	GTC	G	C118110559G	EXT1	NM_000127.3(EXT1):c.488_489GA[1]:p.Asp164fs	coding	Pathogenic
8	118110559	C	CT	G118110561T	EXT1	NM_000127.3(EXT1):c.487dup:p.Arg163fs	coding	Pathogenic
8	118110644	GA	G	A118110646T	EXT1	NM_000127.3(EXT1):c.402del:p.Ile134_Leu135insTer	coding	Pathogenic
8	118110677	CT	A	C118110677A	EXT1	NM_000127.2(EXT1):c.369_370delinsT:p.Lys123fs	coding	Pathogenic
8	118110684	CT	C	T118110685G	EXT1	NM_000127.2(EXT1):c.362del:p.Gln121fs	coding	Pathogenic
8	118110686	G	GT	G118110688T	EXT1	NM_000127.3(EXT1):c.360dup:p.Gln121fs	coding	Pathogenic
8	118110733	TC	T	C118110734G	EXT1	NM_000127.2(EXT1):c.313del:p.Asp105fs	coding	Pathogenic
8	118110759	CT	C	T118110761G	EXT1	NM_000127.3(EXT1):c.287del:p.Lys96fs	coding	Pathogenic
8	118110764	C	CT	G118110768T	EXT1	NM_000127.2(EXT1):c.282dup:p.Gly95fs	coding	Pathogenic
8	118110769	T	TAG	T118110773G	EXT1	NM_000127.2(EXT1):c.276_277dup:p.Tyr93fs	coding	Pathogenic
8	118110780	G	GT	G118110783T	EXT1	NM_000127.3(EXT1):c.266dup:p.Asn89fs	coding	Pathogenic
8	118110799	C	CG	A118110806G	EXT1	NM_000127.2(EXT1):c.247dup:p.Arg83fs	coding	Pathogenic
8	118110799	CG	C	G118110805A	EXT1	NM_000127.3(EXT1):c.247del:p.Arg83fs	coding	Pathogenic
8	118110828	GT	G	T118110832C	EXT1	NM_000127.2(EXT1):c.218del:p.Asn73fs	coding	Pathogenic
8	118110870	CG	C	G118110873A	EXT1	NM_000127.3(EXT1):c.176del:p.Pro59fs	coding	Pathogenic
8	118110917	TC	T	C118110919T	EXT1	NM_000127.3(EXT1):c.129del:p.Asn44fs	coding	Pathogenic
8	118110931	TC	T	C118110932T	EXT1	NM_000127.3(EXT1):c.115del:p.Glu39fs	coding	Pathogenic
8	118110935	CT	C	T118110936C	EXT1	NM_000127.3(EXT1):c.111del:p.Glu38fs	coding	Pathogenic
8	118110943	CT	C	T118110944G	EXT1	NM_000127.2(EXT1):c.103del:p.Ser35fs	coding	Pathogenic
8	118110985	A	ATT	A118110986T	EXT1	NM_000127.2(EXT1):c.61_62insAA:p.Phe21Ter	coding	Pathogenic
8	118111000	CA	C	A118111002G	EXT1	NM_000127.3(EXT1):c.46del:p.Cys16fs	coding	Pathogenic
8	118928783	TGTC	T	C118928786G	TNFRSF11B	NM_002546.4(TNFRSF11B):c.544_546del:p.Asp182del	coding	Pathogenic
8	119091153	TA	T	A119091156G	COLEC10	NM_006438.5(COLEC10):c.228del:p.Gly77fs	coding	Pathogenic
8	125024613	AC	A	C125024614A	WASHC5	NM_014846.4(WASHC5):c.*3del	noncoding	Benign
8	125038888	AGT	A	G125038893T	WASHC5	NM_014846.4(WASHC5):c.3020_3021AC[2]:p.Leu1009fs	coding	Pathogenic
8	125043973	G	GC	T125043974C	WASHC5	NM_014846.4(WASHC5):c.2770+18_2770+19insG	noncoding	Benign
8	125078704	TGTCTTAATAG	T	G125078715A	WASHC5	NM_014846.4(WASHC5):c.711+24_711+33del	noncoding	Benign
8	125078744	G	GT	A125078746T	WASHC5	NM_014846.4(WASHC5):c.704dup:p.Tyr235Ter	coding	Pathogenic
8	125083263	G	GA	C125083273A	WASHC5	NM_014846.4(WASHC5):c.187-14dup	noncoding	Benign
8	125182182	AT	A	T125182184C	NSMCE2	NM_173685.4(NSMCE2):c.346del:p.Ser116fs	coding	Pathogenic
8	125366837	A	AAGGG	C125366842A	NSMCE2	NM_173685.4(NSMCE2):c.697_700dup:p.Ala234fs	coding	Pathogenic
8	130134351	T	TA	G130134361A	ASAP1	NM_018482.4(ASAP1):c.1169-16dup	noncoding	Benign
8	132124279	AT	A	T132124286G	KCNQ3	NM_004519.4(KCNQ3):c.*4982del	noncoding	Benign
8	132124515	C	CCTGT	C132124518G	KCNQ3	NM_004519.4(KCNQ3):c.*4746_*4747insACAG	noncoding	Benign
8	132128507	ATG	A	G132128545T	KCNQ3	NM_004519.4(KCNQ3):c.*717_*718CA[18]	noncoding	Benign
8	132134366	CA	C	A132134367G	KCNQ3	NM_004519.4(KCNQ3):c.1722del:p.Gly575fs	coding	Pathogenic
8	132170347	AAG	A	G132170351C	KCNQ3	NM_004519.4(KCNQ3):c.1218_1219CT[1]:p.Ser407fs	coding	Pathogenic
8	132480455	AGCCGCCCCGCCGCCTCC	A	G132480464C	KCNQ3	NM_004519.4(KCNQ3):c.61_77del:p.Gly20_Gly21insTer	coding	Pathogenic
8	132610255	GA	G	A132610258T	LRRC6	NM_012472.6(LRRC6):c.1050del:p.Gln351fs	coding	Pathogenic
8	132615074	TTA	T	A132615076C	LRRC6	NM_012472.6(LRRC6):c.936_937del:p.Asp312fs	coding	Pathogenic
8	132632762	AC	A	C132632764A	LRRC6	NM_012472.6(LRRC6):c.630del:p.Trp210fs	coding	Pathogenic
8	132632793	CTT	C	T132632794G	LRRC6	NM_012472.6(LRRC6):c.598_599del:p.Lys200fs	coding	Pathogenic
8	132632816	C	CT	G132632819T	LRRC6	NM_012472.6(LRRC6):c.576dup:p.Glu193fs	coding	Pathogenic
8	132869816	G	GC	T132869819C	TG	NM_003235.5(TG):c.266dup:p.Val90fs	coding	Pathogenic
8	132886514	GC	G	C132886515T	TG	NM_003235.5(TG):c.1143del:p.Tyr382fs	coding	Pathogenic
8	132948840	GGAT	G	G132948841C	TG	NM_003235.5(TG):c.5299_5301del:p.Asp1767del	coding	Benign
8	133250456	T	TG	A133250458G	NDRG1	NM_006096.3(NDRG1):c.681dup:p.Ile228fs	coding	Pathogenic
8	139612555	A	AG	C139612557G	KCNK9	NR_104210.2(KCNK9):n.1375dup	noncoding	Benign
8	139988806	GA	G	A139988807C	TRAPPC9	NM_001160372.4(TRAPPC9):c.2729del:p.Val910fs	coding	Pathogenic
8	140450842	G	GA	G140450845A	TRAPPC9	NM_001160372.4(TRAPPC9):c.531dup:p.Leu178fs	coding	Pathogenic
8	140451000	A	ACGAT	T140451006G	TRAPPC9	NM_001160372.4(TRAPPC9):c.370_373dup:p.Val125fs	coding	Pathogenic
8	140451231	TC	T	C140451234G	TRAPPC9	NM_001160372.4(TRAPPC9):c.142del:p.Asp48fs	coding	Pathogenic
8	140458378	T	TGTGACCCTCACGGTACCCCCC	T140458405C	TRAPPC9	NM_031466.7(TRAPPC9):c.166_186dup:p.Gly56_His62dup	coding	Benign
8	140458394	C	CCCCCCGTGACCCTCACGGTA	T140458405C	TRAPPC9	NM_031466.8(TRAPPC9):c.-125_-124insTACCGTGAGGGTCACGGGGG	coding	Pathogenic
8	142741209	GGGGTCG	CT	G142741209C	SLURP1	NM_020427.3(SLURP1):c.240_246delinsAG:p.Asp81fs	coding	Pathogenic
8	142741898	CA	C	A142741899G	SLURP1	NM_020427.3(SLURP1):c.82del:p.Cys28fs	coding	Pathogenic
8	142875078	TG	T	G142875083T	CYP11B1	NM_000497.4(CYP11B1):c.1276del:p.Gln426fs	coding	Pathogenic
8	142875252	GT	G	T142875254C	CYP11B1	NM_001026213.1(CYP11B1):c.1181del:p.Asn394fs	coding	Pathogenic
8	142875838	CGAGCCAGCTCAAA	C	C142875843G	CYP11B1	NM_000497.4(CYP11B1):c.982_994del:p.Phe328fs	coding	Pathogenic
8	142876353	C	CTGGTGTACTGT	A142876356G	CYP11B1	NM_000497.3(CYP11B1):c.841_842insACAGTACACCA:p.Ser281fs	coding	Pathogenic/Likely_pathogenic
8	142877065	TCAGGCTC	T	A142877067C	CYP11B1	NM_000497.4(CYP11B1):c.546_552del:p.Ser183fs	coding	Pathogenic
8	142879054	GC	G	C142879057A	CYP11B1	NM_000497.3(CYP11B1):c.372del:p.His125fs	coding	Pathogenic
8	142879079	C	AG	C142879079A	CYP11B1	NM_000497.4(CYP11B1):c.348delinsCT:p.Trp116fs	coding	Pathogenic
8	142879082	GGGCTCCAGGCTCATCCTGTGGGGATGCA	G	C142879087G	CYP11B1	NM_001026213.1(CYP11B1):c.317_344del:p.Leu106fs	coding	Pathogenic
8	142911685	G	GGGA	T142911690G	CYP11B2	NM_000498.3(CYP11B2):c.*292_*294dup	noncoding	Benign
8	142913288	AAG	A	A142913289G	CYP11B2	NM_000498.3(CYP11B2):c.1116_1117del:p.Leu373fs	coding	Pathogenic
8	142913391	T	TTA	C142913392T	CYP11B2	NM_000498.3(CYP11B2):c.1014_1015insTA:p.Ile339Ter	coding	Pathogenic
8	142915094	T	TCC	G142915100C	CYP11B2	NM_000498.3(CYP11B2):c.545_546dup:p.Ser183fs	coding	Pathogenic
8	142917202	T	TC	A142917206C	CYP11B2	NM_000498.3(CYP11B2):c.251dup:p.Gly85fs	coding	Pathogenic
8	142917222	GC	G	C142917224A	CYP11B2	NM_000498.3(CYP11B2):c.240-9del	noncoding	Benign
8	142917692	AGCCACCTGTT	A	A142917696T	CYP11B2	NM_000498.3(CYP11B2):c.139_148del:p.Gly46_Asn47insTer	coding	Pathogenic/Likely_pathogenic
8	143215375	GTCCCACCCTGGCAAAGC	G	A143215380G	GPIHBP1	NM_178172.6(GPIHBP1):c.417_433del:p.Pro140fs	coding	Pathogenic
8	143559981	G	GAGGGC	C143560002A	GSDMD	NM_024736.7(GSDMD):c.410+13AGGGC[5]	noncoding	Benign
8	143727587	AGG	A	G143727588T	FAM83H	NM_198488.4(FAM83H):c.1872_1873del:p.Leu625fs	coding	Pathogenic
8	143728533	CCA	C	A143728535G	FAM83H	NM_198488.4(FAM83H):c.926_927del:p.Val309fs	coding	Pathogenic
8	143728536	CGA	C	A143728540G	FAM83H	NM_198488.4(FAM83H):c.921_922TC[1]:p.Leu308fs	coding	Pathogenic
8	143816630	C	CA	G143816632A	PUF60	NM_078480.3(PUF60):c.1569dup:p.Glu524Ter	coding	Pathogenic
8	143817402	AG	GGGGCTGGGCCAGGGTCAA	A143817402G	PUF60	NM_078480.3(PUF60):c.1072_1073delinsTTGACCCTGGCCCAGCCCC:p.Leu364fs	coding	Pathogenic
8	143817606	TG	T	G143817608C	PUF60	NM_078480.3(PUF60):c.993del:p.Lys332fs	coding	Pathogenic
8	143817932	A	AGTGTG	A143817933G	PUF60	NM_078480.3(PUF60):c.746_747insCACAC:p.Gly250fs	coding	Pathogenic
8	143817965	TGA	T	A143817969G	PUF60	NM_078480.3(PUF60):c.712_713del:p.Ser238fs	coding	Pathogenic
8	143818041	GGCTGGGCCTGCCCTATGTT	G	C143818048T	PUF60	NM_078480.3(PUF60):c.619_637del:p.Asn207fs	coding	Pathogenic/Likely_pathogenic
8	143818070	G	GC	A143818074C	PUF60	NM_078480.3(PUF60):c.608dup:p.Arg204fs	coding	Pathogenic
8	143818386	GT	G	T143818387G	PUF60	NM_078480.3(PUF60):c.496del:p.Thr166fs	coding	Pathogenic
8	143818425	CCAAAGGGGG	C	G143818432C	PUF60	NM_078480.3(PUF60):c.449_457del:p.Ala150_Phe152del	coding	Pathogenic
8	143818472	GTAGA	G	T143818477G	PUF60	NM_078480.3(PUF60):c.403_406TCTA[1]:p.Ile136fs	coding	Pathogenic
8	143818506	GC	G	C143818508A	PUF60	NM_078480.3(PUF60):c.376del:p.Ala126fs	coding	Pathogenic
8	143821608	TGA	T	A143821610C	PUF60	NM_078480.3(PUF60):c.284_285del:p.Leu95fs	coding	Pathogenic
8	143821674	CG	C	G143821675T	PUF60	NM_078480.3(PUF60):c.219del:p.Lys72_Tyr73insTer	coding	Pathogenic
8	143824349	T	TGCC	G143824366C	PUF60	NM_078480.3(PUF60):c.60_62GGC[6]:p.Ala25dup	coding	Benign/Likely_benign
8	143824372	A	AC	T143824379C	PUF60	NM_078480.3(PUF60):c.51dup:p.Ser18fs	coding	Pathogenic
8	143917858	T	TC	A143917861C	PLEC	NM_201384.3(PLEC):c.11962dup:p.Glu3988fs	coding	Pathogenic
8	143918532	CGA	C	A143918536C	PLEC	NM_201384.3(PLEC):c.11287_11288del:p.Ser3763fs	coding	Pathogenic
8	143920135	TGCAGCTCTGAGTAGAGCTCCTCCTGCCGGGCCCGAGCAGCCTTTTCTGAGAGCGGCAGCAGGCTCAGCCCGGTCAGCTGGTCGGGCCG	T	G143920139C	PLEC	NM_201384.3(PLEC):c.9598_9685del:p.Asp3202fs	coding	Pathogenic
8	143920261	CCT	C	C143920262G	PLEC	NM_201384.3(PLEC):c.9558_9559del:p.Glu3188fs	coding	Pathogenic
8	143920820	GC	AA	G143920820A	PLEC	NM_201384.3(PLEC):c.9000_9001delinsTT:p.Gln3001Ter	coding	Pathogenic/Likely_pathogenic
8	143921736	G	GCGGCC	T143921743G	PLEC	NM_201384.3(PLEC):c.8080_8084dup:p.Ser2696fs	coding	Pathogenic
8	143922313	AGCAG	A	A143922316T	PLEC	NM_201384.3(PLEC):c.7504_7507del:p.Leu2502fs	coding	Pathogenic
8	143924146	A	AGGATCTCC	T143924155G	PLEC	NM_201384.3(PLEC):c.5775_5782dup:p.Leu1928fs	coding	Pathogenic
8	143924153	CCT	C	T143924155C	PLEC	NM_201384.3(PLEC):c.5774_5775del:p.Glu1925fs	coding	Pathogenic
8	143924194	AG	A	G143924195C	PLEC	NM_201384.3(PLEC):c.5734del:p.Leu1912fs	coding	Pathogenic
8	143924897	TGCCGCGCC	T	G143924906T	PLEC	NM_201384.3(PLEC):c.5024_5031del:p.Arg1675fs	coding	Pathogenic
8	143930142	ACCTGGTGACGGCCT	A	T143930148G	PLEC	NM_201384.3(PLEC):c.2600_2612+1del	noncoding	Pathogenic
8	143930426	G	GC	G143930431C	PLEC	NM_201384.3(PLEC):c.2414dup:p.Arg806fs	coding	Pathogenic
8	143930512	A	AAC	C143930513A	PLEC	NM_201384.3(PLEC):c.2328_2329insGT:p.Tyr777fs	coding	Pathogenic
8	143930545	GA	G	A143930546G	PLEC	NM_201384.3(PLEC):c.2305-10del	noncoding	Benign/Likely_benign
8	143931520	A	AC	T143931526C	PLEC	NM_201384.3(PLEC):c.2304+9dup	noncoding	Benign
8	143933989	C	CTGCTG	C143933990T	PLEC	NM_201384.3(PLEC):c.1263+8_1263+9insCAGCA	noncoding	Benign
8	143933991	C	CTCACCGACTG	C143933992T	PLEC	NM_201384.3(PLEC):c.1263+6_1263+7insCAGTCGGTGA	noncoding	Benign
8	143934008	AG	A	G143934011C	PLEC	NM_201384.3(PLEC):c.1252del:p.Leu418fs	coding	Pathogenic
8	143937164	CCT	C	C143937165G	PLEC	NM_201384.3(PLEC):c.341_342del:p.Gln114fs	coding	Pathogenic
8	143939819	C	CAG	G143939820A	PLEC	NM_000445.5(PLEC):c.194-1128_194-1127insCT	noncoding	Benign
8	143973463	GGCCGGCCAT	G	C143973470G	PLEC	NM_201378.4(PLEC):c.1_9del:p.Met1_Gly3del	coding	Pathogenic
8	144084135	CA	C	A144084136T	GPAA1	NM_003801.4(GPAA1):c.619del:p.Met207fs	coding	Pathogenic
8	144084517	TG	T	G144084519C	GPAA1	NM_003801.4(GPAA1):c.920del:p.Gly307fs	coding	Pathogenic
8	144084579	AGTACAAGTATGAC	A	G144084580C	GPAA1	NM_003801.4(GPAA1):c.981_993del:p.Gln327fs	coding	Pathogenic
8	144085597	CAG	C	A144085598G	GPAA1	NM_003801.4(GPAA1):c.1477_1478del:p.Arg493fs	coding	Pathogenic
8	144317788	TG	T	G144317790A	DGAT1	NM_012079.6(DGAT1):c.889del:p.Gln297fs	coding	Pathogenic
8	144326631	GC	G	C144326634A	DGAT1	NM_012079.6(DGAT1):c.5del:p.Gly2fs	coding	Pathogenic
8	144359376	ATGGGATCTGGGTGGAGCTACCTGTGGTGGTCAAAGAGCTTCCAGAGGGTGAGTGGGAGGGAGGTGCAGGTGTGCCCAAGACTCCTGGGCTGCGGTCAG	A	A144359409G	SLC52A2	NM_001363118.2(SLC52A2):c.116_130+83del	coding	Pathogenic
8	144359640	T	TA	C144359642A	SLC52A2	NM_001363118.2(SLC52A2):c.149dup:p.Tyr50Ter	coding	Pathogenic
8	144360037	GC	G	C144360043G	SLC52A2	NM_001363118.2(SLC52A2):c.551del:p.Pro184fs	coding	Pathogenic
8	144396599	CCT	C	C144396600G	CPSF1	NM_013291.3(CPSF1):c.2823_2824del:p.Val943fs	coding	Pathogenic
8	144398812	CAT	C	A144398813G	CPSF1	NM_013291.3(CPSF1):c.1603_1604del:p.Met535fs	coding	Pathogenic
8	144413508	CTCACCTGGGCTCAG	C	A144413511T	SLC39A4	NM_130849.4(SLC39A4):c.1465_1474+4del	noncoding	Pathogenic
8	144414007	A	AT	A144414008T	SLC39A4	NM_130849.4(SLC39A4):c.1237_1238insA:p.Phe413fs	coding	Pathogenic
8	144414321	A	AG	T144414324G	SLC39A4	NM_130849.4(SLC39A4):c.1089dup:p.Phe364fs	coding	Pathogenic
8	144414344	A	AC	T144414351C	SLC39A4	NM_130849.4(SLC39A4):c.1066dup:p.Val356fs	coding	Pathogenic
8	144415350	CG	C	G144415351C	SLC39A4	NM_130849.4(SLC39A4):c.543del:p.Val182fs	coding	Pathogenic
8	144416690	AGGTGAGCAGGC	A	G144416691T	SLC39A4	NM_130849.4(SLC39A4):c.89_99del:p.Ser30fs	coding	Pathogenic
8	144435786	AGGTCAGGCG	CC	A144435786C	TONSL	NM_013432.5(TONSL):c.2638_2647delinsGG:p.Arg880fs	coding	Pathogenic/Likely_pathogenic
8	144438511	ATGCAGGCTCGG	A	G144438517C	TONSL	NM_013432.5(TONSL):c.1602_1612del:p.Ala536fs	coding	Pathogenic/Likely_pathogenic
8	144511902	TG	CA	T144511902C	RECQL4	NM_004260.3(RECQL4):c.3393+8_3393+9inv	noncoding	Benign
8	144511984	TAGCGGCCG	T	G144511988A	RECQL4	NM_004260.4(RECQL4):c.3312_3319del:p.Gly1105fs	coding	Pathogenic
8	144512026	TC	T	C144512028T	RECQL4	NM_004260.3(RECQL4):c.3277del:p.Asp1093fs	coding	Pathogenic
8	144512165	C	CG	T144512166G	RECQL4	NM_004260.4(RECQL4):c.3214_3215insC:p.Arg1072fs	coding	Pathogenic
8	144512175	GGGCCAGGGCCTGGCGCTCCCGGGCCTGCACACGGCCATAGAGGAAGTCACATATCTGGTCCTTCTCCTCAGCGGTCAAGTCCCCCGGGCTGCGAAGGTGGAAGGCCAGCTCACTGAACTCCACAAGCACCCCTGTCCCACGCCGCACACCTGCCGGAAAGCATGTCAGATGCAGGCAGGCAGCGTCCAGGGCGGTGTGGGGTGGGGAGAGGCGCACCTGTCCTGGGCTCGTGGTCCCACTGCAGCTGGCAGAGAGCCCGCCGCACAGAGGCCAGCTCCCAGCCCATGGAGTCCACCAGCTTGACCATGTCAAACTCCACGGAGCTGCTGCCTTGCCCTGGGTCCTCAGGCAGCTGCTGGGCCAAGCACACAGCCAAAGGGGGACACCTGTGCCCAGGGAAAAAGGGACATGTGGCCAACAGCCCTGATTCTCCAACCTCGTCTCCAACTGGGCAGGGCGTGCTTACCTGTGGGCCAGGGCCTGGAGCTGGGCAGGGCCCCCAGGGCAGTTCAGACGGCAATGGGTATAGGTGGTCGCCAGCAGCTCCAGCCAGTGGTGTGGGTGCAGCTCCAGGTAGCACAGCAAAGTCTCGATGGCTGGGGGCAGAGCAGGGCTCAGCGGACGCGGGGACAGCCCCTCCACACCCCTGTGGCTTACCCCAGGTTCCTCACCCTCCTCCGGCATGTCCAAAGCCTGTACGGTAAGCTGTATTGGGAGTGCCCGCTCATGGCCCATGCAGACCCTTCTGGGTCCTGGGGCTGCTTGGTGGCTAAGCTGCTCAGCCTCTTGAGGGGGGTACTTGGGCACAGGCCTCTCCCCACCCACGGCCCCTTCCTGCTCCGAGGGCGGCCTGGTGCAGGTGCAGGTGCAGGCTGGGAACACGCGCTGTACCAGCCTCTTCACAGCCAGGAAGTCCGTGCTGTCGGCGTGCACATGTCTGCGCAGCTCTCGCAGGTCTTCGCCCTGCAGGGCAACTTTCATGAGGGTGGGGTGGACCACTGGGGGCTCGAGCACTGGCAGTGTGGGGGGGGGGGGTGCCAACCTGGGGCTGCAGGAAGAGGTGGCAGTGGGCAGGCTGCCCGTCACGCCCGGCCCGGCCCACGGCCTGCACGTAGCTCTCGAAGCTTGGGGGCAGCCCCAGATGCAGCACAGCCCGCACATCTGGCCGGTCCAGCCCCATCCCAAAGGCCACCGTGGCCACCACCACCCGCAACTGGCCCTGCATGAAGGCTCGCTGTACCCGCCGCCGTTCCCGGCTGCACATGCCCGCGTGGTAGGCCTCGGCTGTGGTTTTGGGGGCACGACCTTTGGGGAAGACAGGCAGATGGTCAGTGGGATGGGACCATGTGTGCCCAAGGTGGGTCCACGGGGACACCAGCTCTGTCCATGCCGCACCTCCAGACCCTGGGACCCAGGCTGCGTGCAGGCAGGTTCGGAGGAGCGCAGCGATCCGCTCTGTGTCCTCGCGCCGGTTGCAGTAAATGATAATGGAATCGAGGTTTTGAAAACGTTTGCCTTGCAGCAGCGTCAACAGTGCCTGATGAGGAGCGGTTGGCGTGGGCAGTGGGGAGTGAGGAGGGGTCGGCGTGTGCAGTGGGGAGTGAGGAGGGGTC	G	C144512179G	RECQL4	NM_004260.4(RECQL4):c.2059-76_3204del	coding	Pathogenic
8	144512237	TTC	T	T144512240C	RECQL4	NM_004260.3(RECQL4):c.3139_3140GA[1]:p.Lys1048fs	coding	Pathogenic
8	144512306	CCT	C	C144512307G	RECQL4	NM_004260.3(RECQL4):c.3072_3073del:p.Val1026fs	coding	Pathogenic/Likely_pathogenic
8	144512307	CT	C	T144512308G	RECQL4	NM_004260.3(RECQL4):c.3072del:p.Val1026fs	coding	Pathogenic
8	144512437	GCA	G	C144512440G	RECQL4	NM_004260.3(RECQL4):c.3006_3007TG[1]:p.Val1003fs	coding	Pathogenic
8	144512448	AG	A	G144512449C	RECQL4	NM_004260.4(RECQL4):c.2998del:p.Leu1000fs	coding	Pathogenic
8	144512557	GA	G	A144512558C	RECQL4	NM_004260.4(RECQL4):c.2889del:p.Pro965fs	coding	Pathogenic
8	144512965	A	AG	T144512972G	RECQL4	NM_004260.4(RECQL4):c.2636dup:p.Gln880fs	coding	Pathogenic
8	144512965	AG	A	G144512971T	RECQL4	NM_004260.4(RECQL4):c.2636del:p.Pro879fs	coding	Pathogenic
8	144513027	TGGTGCA	T	T144513042C	RECQL4	NM_004260.3(RECQL4):c.2557_2562TGCACC[2]:p.853_854CT[2]	coding	Benign
8	144513027	T	TGGTGCA	C144513048T	RECQL4	NM_004260.3(RECQL4):c.2557_2562TGCACC[4]:p.853_854CT[4]	coding	Benign/Likely_benign
8	144513049	TG	T	G144513052A	RECQL4	NM_004260.4(RECQL4):c.2552del:p.Pro851fs	coding	Pathogenic
8	144513053	AAC	A	A144513056G	RECQL4	NM_004260.4(RECQL4):c.2545_2546GT[1]:p.Phe850fs	coding	Pathogenic
8	144513108	CAT	C	A144513109G	RECQL4	NM_004260.3(RECQL4):c.2492_2493del:p.His831fs	coding	Pathogenic/Likely_pathogenic
8	144513210	GT	G	T144513211G	RECQL4	NM_004260.3(RECQL4):c.2463+7del	noncoding	Benign
8	144513261	C	CGCCCG	A144513276G	RECQL4	NM_004260.3(RECQL4):c.2410_2414CGGGC[3]:p.Arg807fs	coding	Pathogenic
8	144513261	CGCCCG	C	G144513271A	RECQL4	NM_004260.4(RECQL4):c.2410_2414CGGGC[1]:p.Ala805_Gly806insTer	coding	Pathogenic
8	144513271	G	GGCCCA	C144513277G	RECQL4	NM_004260.4(RECQL4):c.2405_2409dup:p.Arg804fs	coding	Pathogenic
8	144513300	C	CTT	G144513303T	RECQL4	NM_004260.3(RECQL4):c.2379_2380dup:p.Ser794fs	coding	Pathogenic
8	144513628	GCT	G	C144513631G	RECQL4	NM_004260.4(RECQL4):c.2141_2142del:p.Glu714fs	coding	Pathogenic
8	144513685	GT	G	T144513688G	RECQL4	NM_004260.3(RECQL4):c.2085del:p.Lys695fs	coding	Pathogenic
8	144513717	TGAG	T	G144513721C	RECQL4	NM_004260.3(RECQL4):c.2059-8_2059-6del	noncoding	Benign
8	144514061	GCTGTGA	G	C144514062G	RECQL4	NM_004260.3(RECQL4):c.1919_1924del:p.Leu640_Ala642delinsPro	coding	Pathogenic
8	144514259	CAGGCAAAAGCAACTGGAGGCAGCTGTGCGGCTGGAGGG	C	A144514264C	RECQL4	NM_004260.3(RECQL4):c.1770_1807del:p.Pro591fs	coding	Pathogenic
8	144514307	GC	G	C144514312A	RECQL4	NM_004260.4(RECQL4):c.1759del:p.Ala587fs	coding	Pathogenic
8	144514489	TGCAGGCC	T	A144514492C	RECQL4	NM_004260.3(RECQL4):c.1650_1656del:p.Ala551fs	coding	Pathogenic
8	144514972	CA	C	A144514974C	RECQL4	NM_004260.4(RECQL4):c.1583del:p.Leu528fs	coding	Pathogenic
8	144514982	CA	C	A144514983G	RECQL4	NM_004260.3(RECQL4):c.1573del:p.Cys525fs	coding	Pathogenic
8	144514983	AGGGGC	GGGGG	A144514983G	RECQL4	NM_004260.3(RECQL4):c.1568_1573delinsCCCCC:p.Ser523fs	coding	Pathogenic
8	144514987	GC	G	C144514988T	RECQL4	NM_004260.3(RECQL4):c.1568del:p.Ser523fs	coding	Pathogenic
8	144515223	G	GA	C144515226A	RECQL4	NM_004260.4(RECQL4):c.1409dup:p.Gln471fs	coding	Pathogenic
8	144515232	AG	A	G144515233C	RECQL4	NM_004260.3(RECQL4):c.1400del:p.Ala467fs	coding	Pathogenic
8	144515323	CA	C	A144515324C	RECQL4	NM_004260.3(RECQL4):c.1390+2del	noncoding	Pathogenic
8	144515798	C	CA	T144515799A	RECQL4	NM_004260.3(RECQL4):c.1223_1224insT:p.Gln408fs	coding	Pathogenic
8	144515818	AC	A	C144515819T	RECQL4	NM_004260.3(RECQL4):c.1203del:p.Glu401fs	coding	Pathogenic
8	144515833	CTG	C	T144515836G	RECQL4	NM_004260.4(RECQL4):c.1187_1188del:p.Thr396fs	coding	Pathogenic
8	144515850	CC	G	C144515850G	RECQL4	NM_004260.3(RECQL4):c.1171_1172delinsC:p.Gly391fs	coding	Pathogenic
8	144515854	AAC	A	A144515857T	RECQL4	NM_004260.4(RECQL4):c.1164_1165GT[1]:p.Cys389fs	coding	Pathogenic
8	144515892	T	TG	T144515899G	RECQL4	NM_004260.4(RECQL4):c.1132-8dup	noncoding	Benign
8	144515984	TTACC	T	A144515986G	RECQL4	NM_004260.3(RECQL4):c.1131_1131+3del	noncoding	Pathogenic
8	144516016	GC	G	C144516019G	RECQL4	NM_004260.3(RECQL4):c.1102del:p.Ala368fs	coding	Pathogenic
8	144516066	GCC	G	C144516069T	RECQL4	NM_004260.3(RECQL4):c.1051_1052del:p.Gly351fs	coding	Pathogenic
8	144516069	CCT	C	C144516070G	RECQL4	NM_004260.3(RECQL4):c.1048_1049del:p.Arg350fs	coding	Pathogenic
8	144516079	CGG	C	G144516081C	RECQL4	NM_004260.4(RECQL4):c.1038_1039del:p.Arg347fs	coding	Pathogenic/Likely_pathogenic
8	144516103	AG	A	G144516109C	RECQL4	NM_004260.3(RECQL4):c.1015del:p.Leu339fs	coding	Pathogenic
8	144516247	GC	G	C144516251A	RECQL4	NM_004260.3(RECQL4):c.871del:p.Ala291fs	coding	Pathogenic
8	144516264	TG	T	G144516269T	RECQL4	NM_004260.4(RECQL4):c.854del:p.Pro285fs	coding	Pathogenic
8	144516313	CA	C	A144516314G	RECQL4	NM_004260.3(RECQL4):c.805del:p.Trp269fs	coding	Pathogenic
8	144516366	GC	G	C144516367T	RECQL4	NM_004260.3(RECQL4):c.752del:p.Ser251fs	coding	Pathogenic/Likely_pathogenic
8	144516409	GGGCCCTGGGAGCCAGCACCA	G	C144516412A	RECQL4	NM_004260.3(RECQL4):c.690_709del:p.Gly231fs	coding	Pathogenic
8	144516432	AC	A	C144516434A	RECQL4	NM_004260.4(RECQL4):c.686del:p.Gly229fs	coding	Pathogenic
8	144516444	C	CA	G144516445A	RECQL4	NM_004260.3(RECQL4):c.674_675insT:p.Ala226fs	coding	Pathogenic
8	144516473	CCT	C	C144516476G	RECQL4	NM_004260.3(RECQL4):c.642_643AG[1]:p.Glu215fs	coding	Pathogenic
8	144516580	C	GCTGGGCTAGGGAG	C144516580G	RECQL4	NM_004260.4(RECQL4):c.539delinsCTCCCTAGCCCAGC:p.Ser180delinsThrProTer	coding	Pathogenic
8	144516744	GCGGCCCAGGGCTGGTC	G	C144516750T	RECQL4	NM_004260.3(RECQL4):c.359_374del:p.Gly120Alafs	coding	Pathogenic/Likely_pathogenic
8	144517085	GC	G	C144517088G	RECQL4	NM_004260.3(RECQL4):c.318del:p.Gln107fs	coding	Pathogenic
8	144517129	GA	AG	G144517129A	RECQL4	NM_004260.4(RECQL4):c.274_275delinsCT:p.Ser92Leu	coding	Benign
8	144517181	GCT	G	C144517184G	RECQL4	NM_004260.3(RECQL4):c.219_220AG[1]:p.Glu74fs	coding	Pathogenic
8	144517426	CGCGGGGA	C	G144517430A	RECQL4	NM_004260.3(RECQL4):c.194_200del:p.Leu65fs	coding	Pathogenic
8	144517430	GGGAGCGACTC	G	G144517436T	RECQL4	NM_004260.4(RECQL4):c.187_196del:p.Glu63fs	coding	Pathogenic
8	144517482	TCA	T	C144517483G	RECQL4	NM_004260.3(RECQL4):c.143_144del:p.Leu48fs	coding	Pathogenic
8	144517733	A	ACG	T144517741G	RECQL4	NM_004260.4(RECQL4):c.50_51dup:p.Phe18fs	coding	Pathogenic
9	289590	CT	C	T289597C	DOCK8	NM_203447.3(DOCK8):c.404+16del	noncoding	Benign/Likely_benign
9	325692	CCT	C	C325693G	DOCK8	NM_203447.4(DOCK8):c.850_851del:p.Leu284fs	coding	Pathogenic
9	328045	C	CTTGAACT	C328046T	DOCK8	NM_203447.3(DOCK8):c.918_919insTTGAACT:p.Asp310fs	coding	Pathogenic
9	386356	TGTCTTAC	T	G386357T	DOCK8	NM_001190458.2(DOCK8):c.2574+3672_2574+3678del	coding	Pathogenic
9	399266	GT	G	T399267C	DOCK8	NM_203447.3(DOCK8):c.3234+8del	noncoding	Benign
9	406975	ATG	A	G406977T	DOCK8	NM_203447.4(DOCK8):c.3438_3439del:p.Met1146fs	coding	Pathogenic
9	407032	AC	A	C407033A	DOCK8	NM_203447.3(DOCK8):c.3494del:p.Thr1165fs	coding	Pathogenic
9	407038	C	CTGGCTGCT	G407047T	DOCK8	NM_203447.4(DOCK8):c.3500_3507dup:p.Ala1170fs	coding	Pathogenic
9	407040	G	GGCTTGGCT	G407044T	DOCK8	NM_203447.3(DOCK8):c.3504_3505insTGGCTGCT:p.Ala1169fs	coding	Pathogenic
9	418167	AT	A	T418170C	DOCK8	NM_203447.4(DOCK8):c.3803del:p.Phe1268fs	coding	Pathogenic
9	441322	CT	C	T441323G	DOCK8	NM_203447.3(DOCK8):c.5261del:p.Leu1754fs	coding	Pathogenic
9	452067	C	CT	A452069T	DOCK8	NM_203447.3(DOCK8):c.6019dup:p.Tyr2007fs	coding	Pathogenic
9	676976	GC	G	C676977T	KANK1	NM_001354333.1(KANK1):c.-503del	coding	Benign
9	740769	CTTTTT	C	T740783A	KANK1	NM_015158.5(KANK1):c.3554-9_3554-5del	noncoding	Benign
9	740787	T	TA	C740789A	KANK1	NM_015158.5(KANK1):c.3554-4dup	noncoding	Benign
9	916754	C	CT	A916757T	DMRT1	NM_021951.3(DMRT1):c.823-7dup	noncoding	Benign
9	2643931	CTGGAG	C	G2643934A	VLDLR	NM_003383.5(VLDLR):c.1041_1045del:p.Trp347_Asp349delinsTer	coding	Pathogenic
9	2645016	GGTTACAA	G	T2645019G	VLDLR	NM_003383.5(VLDLR):c.1249_1255del:p.Tyr417fs	coding	Pathogenic
9	2651876	AT	A	T2651877C	VLDLR	NM_003383.5(VLDLR):c.2339del:p.Ile780fs	coding	Pathogenic
9	2717744	TCAAA	T	A2717747G	KCNV2	NM_133497.4(KCNV2):c.8_11del:p.Lys3fs	coding	Pathogenic
9	2717754	TGA	T	A2717758G	KCNV2	NM_133497.4(KCNV2):c.19_20del:p.Arg7fs	coding	Pathogenic
9	2718092	T	TC	A2718097C	KCNV2	NM_133497.4(KCNV2):c.357dup:p.Lys120fs	coding	Pathogenic
9	2718148	AGCCT	A	C2718150T	KCNV2	NM_133497.4(KCNV2):c.411_414del:p.Leu138fs	coding	Pathogenic
9	2718461	CGCAGCG	C	A2718464G	KCNV2	NM_133497.4(KCNV2):c.725_730del:p.Gln242_Arg243del	coding	Pathogenic
9	2718604	TC	T	C2718605G	KCNV2	NM_133497.4(KCNV2):c.866del:p.Ser289fs	coding	Pathogenic
9	2718719	TGAGGCGCTTCGCGCGCAGC	T	A2718721C	KCNV2	NM_133497.4(KCNV2):c.982_1000del:p.Arg328fs	coding	Pathogenic/Likely_pathogenic
9	2718728	T	TCG	A2718736G	KCNV2	NM_133497.4(KCNV2):c.991_992GC[4]:p.Ser333fs	coding	Pathogenic
9	2719031	CTG	C	T2719034G	KCNV2	NM_133497.4(KCNV2):c.1293_1294TG[1]:p.Val432fs	coding	Pathogenic
9	2719095	GGTGA	G	G2719098A	KCNV2	NM_133497.4(KCNV2):c.1356+3_1356+6del	coding	Pathogenic
9	3824934	AAT	A	T3824936A	GLIS3	NM_001042413.2(GLIS3):c.*3336_*3337del	noncoding	Benign
9	3826471	T	TG	T3826472G	GLIS3	NM_001042413.2(GLIS3):c.*1800_*1801insC	noncoding	Benign
9	3827607	A	AT	C3827617T	GLIS3	NM_001042413.2(GLIS3):c.*664dup	noncoding	Benign
9	3856143	C	CG	C3856149G	GLIS3	NM_001042413.2(GLIS3):c.2338dup:p.Arg780fs	coding	Pathogenic
9	4118545	GC	G	C4118547A	GLIS3	NM_001042413.2(GLIS3):c.932del:p.Gly311fs	coding	Pathogenic
9	4576749	GATC	G	T4576754C	SLC1A1	NM_004170.6(SLC1A1):c.1181_1183TCA[1]:p.Ile395del	coding	Pathogenic
9	4586213	C	CTA	G4586231A	SLC1A1	NM_004170.6(SLC1A1):c.*657_*658AT[9]	noncoding	Benign
9	5070026	AA	TT	A5070026T	JAK2	NM_004972.3(JAK2):c.1615_1616inv:p.Lys539Leu	coding	Pathogenic
9	6553398	G	GGAAC	T6553403G	GLDC	NM_000170.2(GLDC):c.2423_2426dup:p.Ile810fs	coding	Pathogenic/Likely_pathogenic
9	6553514	A	AT	A6553523T	GLDC	NM_000170.2(GLDC):c.2316-13dup	noncoding	Benign/Likely_benign
9	6553514	A	ATT	A6553523T	GLDC	NM_000170.3(GLDC):c.2316-13_2316-12dup	noncoding	Benign
9	6553514	AT	A	T6553522A	GLDC	NM_000170.2(GLDC):c.2316-6del	noncoding	Benign
9	6554705	T	TG	A6554710G	GLDC	NM_000170.2(GLDC):c.2278dup:p.His760fs	coding	Pathogenic
9	6554714	CAGA	C	A6554717G	GLDC	NM_000170.2(GLDC):c.2267_2269del:p.Phe756del	coding	Pathogenic/Likely_pathogenic
9	6554751	ACCCGAAGT	A	C6554753T	GLDC	NM_000170.3(GLDC):c.2225_2232del:p.Asp742fs	coding	Pathogenic
9	6556168	TG	T	G6556169C	GLDC	NM_000170.2(GLDC):c.2186del:p.Ala729fs	coding	Pathogenic
9	6565410	C	CAT	T6565415A	GLDC	NM_000170.2(GLDC):c.1866_1867AT[3]:p.Ala624fs	coding	Pathogenic/Likely_pathogenic
9	6565417	TC	T	C6565420T	GLDC	NM_000170.3(GLDC):c.1862del:p.Gly621fs	coding	Pathogenic
9	6588646	AT	A	T6588647G	GLDC	NM_000170.3(GLDC):c.1636del:p.Ile546fs	coding	Pathogenic
9	6588653	TA	T	A6588654T	GLDC	NM_000170.3(GLDC):c.1629del:p.Asn543fs	coding	Pathogenic
9	6592914	CA	C	A6592915C	GLDC	NM_000170.2(GLDC):c.1337del:p.Val446fs	coding	Pathogenic
9	6604591	GT	G	T6604593A	GLDC	NM_000170.2(GLDC):c.1054del:p.Thr352fs	coding	Pathogenic/Likely_pathogenic
9	6604675	A	AGT	G6604679T	GLDC	NM_000170.3(GLDC):c.969_970dup:p.Leu324fs	coding	Pathogenic
9	6605198	TG	T	G6605200A	GLDC	NM_000170.2(GLDC):c.793del:p.Gln265fs	coding	Pathogenic/Likely_pathogenic
9	6620242	A	ATATT	G6620243T	GLDC	NM_000170.2(GLDC):c.411_412insAATA:p.Tyr138fs	coding	Pathogenic
9	6645371	GT	G	T6645372C	GLDC	NM_000170.2(GLDC):c.128del:p.Asp43fs	coding	Pathogenic/Likely_pathogenic
9	8331574	A	AAACTTACCATTCTTGAACTGTAACT	T8331583A	PTPRD	NM_002839.4(PTPRD):c.5534+7_5534+8insGGTAAGTTAGTTACAGTTCAAGAAT	noncoding	Benign
9	12694100	CT	C	T12694103G	TYRP1	NM_000550.3(TYRP1):c.107del:p.Ala35_Leu36insTer	coding	Pathogenic
9	12702410	TACAA	T	A12702414G	TYRP1	NM_000550.3(TYRP1):c.1057_1060del:p.Asn353fs	coding	Pathogenic
9	12704544	GA	G	A12704547G	TYRP1	NM_000550.3(TYRP1):c.1103del:p.Lys368fs	coding	Pathogenic
9	12708958	T	TA	T12708960A	TYRP1	NM_000550.3(TYRP1):c.1409-18dup	noncoding	Benign
9	12709474	ATAAG	A	A12709480G	TYRP1	NM_000550.3(TYRP1):c.*294_*297AAGT[1]	noncoding	Benign
9	12709648	AAATT	A	A12709654T	TYRP1	NM_000550.3(TYRP1):c.*468_*471ATTA[1]	noncoding	Benign
9	13126767	CT	C	T13126768G	MPDZ	NM_003829.4(MPDZ):c.4469del:p.Gln1490fs	coding	Pathogenic
9	13176181	T	TATAA	C13176186A	MPDZ	NM_001378778.1(MPDZ):c.2882_2885dup:p.Ser963fs	coding	Pathogenic
9	14120608	AGTTCGAGTTGAGAT	A	T14120610A	NFIB	NM_001190737.2(NFIB):c.1063_1076del:p.Ile355fs	coding	Pathogenic
9	14150191	T	TCA	T14150194C	NFIB	NM_001190737.2(NFIB):c.758_759dup:p.Asn254Ter	coding	Pathogenic
9	14756453	A	AG	A14756457G	FREM1	NM_144966.5(FREM1):c.5335-10dup	noncoding	Benign/Likely_benign
9	14756456	G	GA	T14756466A	FREM1	NM_144966.5(FREM1):c.5335-19dup	noncoding	Benign/Likely_benign
9	14792798	TC	T	C14792801T	FREM1	NM_144966.5(FREM1):c.3925del:p.Glu1309fs	coding	Pathogenic
9	14812982	AC	A	C14812984A	FREM1	NM_144966.5(FREM1):c.2722del:p.Val908fs	coding	Pathogenic
9	14824093	ATAAT	A	A14824095T	FREM1	NM_144966.5(FREM1):c.2097_2100del:p.Lys699fs	coding	Pathogenic
9	21862782	C	CA	C21862790A	MTAP	NM_002451.4(MTAP):c.*775dup	noncoding	Benign
9	21864350	A	AT	A21864363T	MTAP	NM_002451.4(MTAP):c.*2348dup	noncoding	Benign
9	21971000	TC	T	C21971002T	CDKN2A	NM_000077.4(CDKN2A):c.358del:p.Glu120fs	coding	Pathogenic
9	21971015	A	ACGGG	A21971021G	CDKN2A	NM_058197.4(CDKN2A):c.*263_*266dup	coding	Pathogenic
9	21971019	GC	AG	G21971019A	CDKN2A	NM_000077.4(CDKN2A):c.339_340delGCinsCT:p.Pro114Ser	coding	Pathogenic
9	21971021	A	AGAC	G21971026A	CDKN2A	NM_000077.4(CDKN2A):c.335_337dup:p.Arg112dup	coding	Pathogenic/Likely_pathogenic
9	21971050	CCG	C	G21971054C	CDKN2A	NM_000077.5(CDKN2A):c.307_308del:p.Arg103fs	coding	Pathogenic
9	21971075	AC	A	C21971077A	CDKN2A	NM_058197.4(CDKN2A):c.*206del	coding	Pathogenic
9	21971105	GCGTCGTGCACGGGT	G	T21971108G	CDKN2A	NM_058197.4(CDKN2A):c.*163_*176del	coding	Pathogenic
9	21971115	CGGGTCGGGTGAGAGTGGCG	C	G21971123C	CDKN2A	NM_058197.4(CDKN2A):c.*148_*166del	coding	Pathogenic
9	21971146	GTTGGGCTCCGCGCCGTGGAGCAGCAGCAGCTCCGCCAC	G	T21971148C	CDKN2A	NM_058197.4(CDKN2A):c.*98_*135del	coding	Pathogenic
9	21971161	G	GT	G21971163T	CDKN2A	NM_058197.4(CDKN2A):c.*120dup	coding	Pathogenic
9	21971169	GC	G	C21971170A	CDKN2A	NM_058197.4(CDKN2A):c.*112del	coding	Pathogenic
9	21974463	AC	A	C21974464G	CDKN2A	NM_000077.4(CDKN2A):c.150+214del	coding	Benign
9	21974695	CG	C	G21974696T	CDKN2A	NM_000077.4(CDKN2A):c.132del:p.Ser43_Tyr44insTer	coding	Pathogenic
9	21974696	G	GT	A21974698T	CDKN2A	NM_000077.4(CDKN2A):c.131dup:p.Tyr44Ter	coding	Pathogenic
9	21974696	G	GTT	A21974698T	CDKN2A	NM_000077.4(CDKN2A):c.131_132insAA:p.Tyr44Ter	coding	Pathogenic
9	21974721	G	GC	G21974727C	CDKN2A	NM_058195.3(CDKN2A):c.194-3518dup	coding	Pathogenic
9	21974758	GA	G	A21974759C	CDKN2A	NM_058195.3(CDKN2A):c.194-3551del	coding	Pathogenic
9	21974777	GGCCA	G	C21974783T	CDKN2A	NM_058195.3(CDKN2A):c.194-3573_194-3570del	coding	Pathogenic
9	21974781	A	AGCC	A21974785G	CDKN2A	NM_058195.3(CDKN2A):c.194-3576_194-3574dup	coding	Pathogenic
9	21974782	G	GC	A21974785C	CDKN2A	NM_058195.3(CDKN2A):c.194-3576dup	coding	Pathogenic
9	21974785	AGT	C	A21974785C	CDKN2A	NM_000077.4(CDKN2A):c.41_43delinsG:p.Asp14fs	coding	Pathogenic
9	21974795	A	AG	C21974798G	CDKN2A	NM_000077.4(CDKN2A):c.32dup:p.Ser12fs	coding	Pathogenic
9	21974795	A	AGGCTCCATGCTGCTCCCCGCCGCC	C21974844G	CDKN2A	NM_000077.4(CDKN2A):c.-16_8GGCGGCGGGGAGCAGCATGGAGCC[3]:p.Ala4_Pro11dup	coding	Pathogenic/Likely_pathogenic
9	21974797	GC	G	C21974798T	CDKN2A	NM_058195.3(CDKN2A):c.194-3590del	coding	Pathogenic
9	21994211	CG	C	G21994214C	CDKN2A	NM_001363763.2(CDKN2A):c.-4+609del	coding	Pathogenic
9	21994234	T	TC	G21994240C	CDKN2A	NM_058195.3(CDKN2A):c.97dup:p.Glu33fs	coding	Pathogenic
9	21994273	AC	A	C21994274T	CDKN2A	NM_001363763.2(CDKN2A):c.-4+547del	coding	Pathogenic
9	26935115	G	GCTA	G26935116C	PLAA	NM_001031689.3(PLAA):c.240_241insTAG:p.Pro81Ter	coding	Pathogenic
9	26946977	G	GC	G26946982C	PLAA	NM_001031689.3(PLAA):c.68dup:p.Leu24fs	coding	Pathogenic
9	27109315	T	TG	C27109317G	TEK	NM_000459.4(TEK):c.-275dup	noncoding	Benign
9	27548435	GAAA	G	A27548459G	C9orf72	NM_018325.5(C9orf72):c.1260-16_1260-14del	noncoding	Benign
9	27573523	C	CGCCCCGGCCCCGGCCCCGGCCCCGGCCCCGGCCCCGGCCCCGGCCCCGGCCCCGGCCCCGGCCCCGGCCCCGGCCCCGGCCCCGGCCCCGGCCCCGGCCCCGGCCCCGGCCCCGGCCCCGGCCCCGGCCCCGGCCCCGGCCCCGGCCCCGGCCCCGGCCCCGGCCCCGGCCCCGGCCCCGGCCCCGGCCCCGGCCCCGGCCCCGGCCCCGGCCCCGGCCCCGGCCCCGGCCCCGGCCCCGGCCCCGGCCCCGGCCCCGGCCCCGGCCCCGGCCCCGGCCCCGGCCCCGGCCCCGGCCCCGGCCCCGGCCCCGGCCCCGGCCCCGGCCCCGGCCCCGGCCCCG	T27573547G	C9orf72	NG_031977.1:g.(5321_5338)ins(360_?	noncoding	Pathogenic
9	27573523	C	CGCCCCGGCCCCGGCCCCGGCCCCGGCCCCGGCCCCGGCCCCGGCCCCGGCCCCGGCCCCGGCCCCGGCCCCGGCCCCGGCCCCGGCCCCGGCCCCGGCCCCGGCCCCGGCCCCGGCCCCGGCCCCG	T27573547G	C9orf72	NM_001256054.1(C9orf72):c.-45+163GGGGCC[>24]	noncoding	Pathogenic
9	27573523	CGCCCCG	C	G27573541T	C9orf72	NM_001256054.2(C9orf72):c.-45+163_-45+180GGGGCC(2_25	noncoding	Benign
9	32541955	CT	C	T32541959G	TOPORS	NM_005802.5(TOPORS):c.2569del:p.Arg857fs	coding	Pathogenic
9	32541967	GTC	G	C32541973G	TOPORS	NM_005802.5(TOPORS):c.2552_2553GA[2]:p.Glu852fs	coding	Pathogenic
9	32541967	GTCTC	G	C32541971G	TOPORS	NM_005802.5(TOPORS):c.2552_2553GA[1]:p.Glu852fs	coding	Pathogenic
9	32541971	CTCTG	C	T32541976A	TOPORS	NM_005802.5(TOPORS):c.2546_2549CAGA[1]:p.Asp850fs	coding	Pathogenic/Likely_pathogenic
9	32542000	G	GT	A32542002T	TOPORS	NM_005802.5(TOPORS):c.2524dup:p.Thr842fs	coding	Pathogenic
9	32542050	G	GT	A32542052T	TOPORS	NM_005802.5(TOPORS):c.2474dup:p.Tyr825Ter	coding	Pathogenic
9	32973570	ACAACGAAGGGGCAGCTT	A	C32973574G	APTX	NM_001195248.2(APTX):c.940_956del:p.Lys314fs	coding	Pathogenic
9	32974490	GA	G	A32974492T	APTX	NM_001195248.2(APTX):c.841del:p.Ser281fs	coding	Pathogenic
9	32974555	TA	T	A32974556C	APTX	NM_001195248.2(APTX):c.776del:p.Val259fs	coding	Pathogenic
9	32974572	G	GAA	C32974582A	APTX	NM_001195248.2(APTX):c.771-20_771-19dup	noncoding	Benign
9	32974572	G	GA	C32974582A	APTX	NM_001195248.2(APTX):c.771-20dup	noncoding	Benign
9	32984711	C	CA	C32984713A	APTX	NM_001195248.2(APTX):c.689dup:p.Glu232fs	coding	Pathogenic
9	32986032	TAAAAAAAAAACAA	T	A32986042C	APTX	NM_001195248.2(APTX):c.484-15_484-3del	noncoding	Benign
9	32986032	TA	T	A32986042C	APTX	NM_001195248.2(APTX):c.484-3del	noncoding	Benign/Likely_benign
9	32986033	AAAAAAAAAACAAAAAAAAAAAC	A	C32986043A	APTX	NM_001195248.2(APTX):c.484-25_484-4del	noncoding	Benign
9	32986034	AAAAAAAAACAAAAAAAAAAAC	A	C32986043A	APTX	NM_001195248.2(APTX):c.484-25_484-5del	noncoding	Benign/Likely_benign
9	32986035	AAAAAAAACAAAAAAAAAAAC	A	C32986043A	APTX	NM_001195248.2(APTX):c.484-25_484-6del	noncoding	Benign
9	33113806	T	TG	A33113808G	B4GALT1	NM_001497.3(B4GALT1):c.1031dup:p.Arg345fs	coding	Pathogenic
9	34241272	A	AGTGAATTC	T34241273G	UBAP1	NM_016525.5(UBAP1):c.247_248insGTGAATTC:p.Ile83fs	coding	Pathogenic
9	34241310	C	CCCAGA	G34241316C	UBAP1	NM_016525.5(UBAP1):c.286_290dup:p.Glu97fs	coding	Pathogenic
9	34241319	C	CG	A34241321G	UBAP1	NM_016525.5(UBAP1):c.295dup:p.Asp99fs	coding	Pathogenic
9	34241384	T	TC	T34241387C	UBAP1	NM_016525.5(UBAP1):c.361dup:p.Leu121fs	coding	Pathogenic
9	34241461	A	ATGAG	G34241462T	UBAP1	NM_016525.5(UBAP1):c.436_437insTGAG:p.Ser146fs	coding	Pathogenic
9	34269295	TTGTC	T	G34269301A	KIF24	NM_194313.4(KIF24):c.1397_1400GACA[1]:p.Thr468fs	coding	Benign
9	34371710	CG	C	G34371711A	MYORG	NM_020702.5(MYORG):c.1233del:p.Phe411fs	coding	Pathogenic
9	34459054	G	GT	A34459056T	DNAI1	NM_012144.4(DNAI1):c.48+2dup	noncoding	Pathogenic
9	34485215	CT	C	T34485216G	DNAI1	NM_012144.4(DNAI1):c.156del:p.Asp53fs	coding	Pathogenic
9	34485222	GC	G	C34485223T	DNAI1	NM_012144.4(DNAI1):c.163del:p.Leu55fs	coding	Pathogenic
9	34489343	T	TAATA	G34489344A	DNAI1	NM_012144.4(DNAI1):c.282_283insAATA:p.Gly95fs	coding	Pathogenic
9	34489393	TC	T	C34489397A	DNAI1	NM_012144.4(DNAI1):c.336del:p.Asp114fs	coding	Pathogenic
9	34506747	AC	A	C34506751T	DNAI1	NM_012144.4(DNAI1):c.1188del:p.Tyr397fs	coding	Pathogenic
9	34512176	TTG	T	G34512180C	DNAI1	NM_012144.4(DNAI1):c.1383_1384del:p.Ser462fs	coding	Pathogenic
9	34513120	A	AC	T34513122C	DNAI1	NM_012144.4(DNAI1):c.1499dup:p.Ala501fs	coding	Pathogenic
9	34513151	AC	A	C34513152A	DNAI1	NM_012144.4(DNAI1):c.1530del:p.Asp509_Tyr510insTer	coding	Pathogenic
9	34514479	ACACCAAGGTCTT	A	C34514482T	DNAI1	NM_012144.4(DNAI1):c.1658_1669del:p.Thr553_Phe556del	coding	Pathogenic
9	34517363	A	AC	A34517367C	DNAI1	NM_012144.4(DNAI1):c.1900dup:p.His634fs	coding	Pathogenic
9	34637288	A	AG	C34637291G	SIGMAR1	NM_005866.4(SIGMAR1):c.283dup:p.Leu95fs	coding	Pathogenic
9	34637677	C	CCGGCCCA	T34637693G	SIGMAR1	NM_005866.4(SIGMAR1):c.14_20dup:p.Arg8fs	coding	Pathogenic
9	34637678	CG	C	G34637680C	SIGMAR1	NM_005866.4(SIGMAR1):c.19del:p.Arg7fs	coding	Pathogenic
9	34637684	AC	A	C34637685G	SIGMAR1	NM_005866.4(SIGMAR1):c.13del:p.Val5fs	coding	Pathogenic
9	34645663	CACATTTTTAGACTTTCTTGTACTTTTTTTTTTTTTTTTGTGACGGAGTCTGCTCTGTCGCCAGGCTAGAGTGCATGGGCACAATCTCGGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGGTGGGACTACAGGTGCACGCCACCAAGACCAGCTAATTTTTTTTTTTTTTTTTTTTACTAGAGACGGGGTTTCACCATGTTGGCCAGGATGGTCTCAATTTCTTGACCTTGTGATCCGCCTGCCTTGGTCTCCCAAAGTGTTGGGATTACAGGCGTGAGCCACCGAGCCCGGCCATTTTTAGATTTTTTTTTATAGCCCTTTTACCCCTCCCACTTCTTGTGCTGTCTTGGTGTGTGTATGAAAAAGAGAGAGAGAGAGAGAGGAAGGAGAGCAAGAGTGAGAGAAAAAGAGAATATGGTTACTTAGCCCTTTTTCCCAAATCTGTTTTTGCTTTTGGGGATAGGATATGGTTATGGTGAAGTACTCCACACAGACCCCACCAAGTTTGCCTCTCCTGCGCTACAGCCACTGAGCAGGTGACTGAGGCGCTGTTGATCCAGGGTCATATCCTTACTCGCCCTAGAATGTAAGCTCAGGCAGGGCAGAGGCCATGCCTGACATGTGCATCCCAATGCTTTACACAGCCTAGGTGCCTAGCACATGCTAGATGCTTGGTAAATATTTGCTGAATGAAAGATCAAATGAATGATTGCAGCAAGCAAGTCCTGTAGGCATCCTGGAGCCCAAGGATTCTGCAGTAGGCAGCTTTCACAGAGGTTCTTCCAGTGTAGTGGCTCTAGCTCTGGGTGAAGTAGGATCATCAATGTCGGCCCCCAGGGTTCACAGCTGTTCTGAGCCCCGCCCCCAGGTGGCAGGGCAGCCCAGTCAGTCAGTCACGTGCTGGCGGCTGGCCAATCATCGGGGGCGGCGCGGGGAGGGGTGGTGTGGACGGAGAAAGTGAAAGGTGAGGCACGGCCCTGCAGATTTTCCAGCGGATCCCCCGGTGGCCTCATGTCGCGCAGTGGAACCGATCCTCAGCAACGCCAGCAGGCGTCAGAGGCGGACGCCGCAGCAGCAACCTTCCGGGCAAACGGTAACTGCACCGCGGCAGGGACTCGCTGGGGCGCGGAGCCGAGCCCTCCCCTTCCTTAGGAAGCTTTCGTCCCCTCCGAAGGTTGGAACGCTCATCCCGAGCCAGACCGACAAGGCGTACAGTCTGCAGGCCTGTACGAGCAGCAGGCCAATTGGCGCTGGGAAAGTCCAATCCTGGGCCTCTAGCTCCTGAGCGGGACAGGGCCGAGAGGGCGCTCCCGAGCTTGGGCCTGCTGGTGGGTGAGACCCAGGAGAGAGGGAGCTAGAGAGCTCTGAGGACTGATCTTGACTGTCTGCCCCCAGACCATCAGCATATCCGCTACAACCCGCTGCAGGATGAGTGGGTGCTGGTGTCAGCTCACCGCATGAAGCGGCCCTGGCAGGGTCAAGTGGAGCCCCAGCTTCTGAAGACAGTGCCCCGCCATGACCCTCTCAACCCTCTGTGTCCTGGGGCCATCCGAGCCAACGGAGAGGTAAGCCTGTAGAGCCCTGCATCTGCAGGCTGGGCCACGGGGAGTAGTTCCCTCTTAGAACTGTCCTCCACCCACAGGGATAGTGAACCTCCTTCTGGGTCATATCCCACCAAGCTTTTTGGTCCCCTAGGGTGGGCCTTCCCTACTCCCTTGTAGCCTGTCCAGTCTTTGAAGCCCACCAGGTAACTGGTGGTATGGGGCAGTGAGTGCTTCTAGCCTATCCTTGTCGGTAGGTGAATCCCCAGTACGATAGCACCTTCCTGTTTGACAACGACTTCCCAGCTCTGCAGCCTGATGCCCCCAGTCCAGGTAACCTGGCTCCAACTGCTGCTGGGGAGGAGGGTGGCTAGACCTCTTGAGGGACTTCTGCTGCAGAGAGTGATACTCCTTTACCTCAGGACCCAGTGATCATCCCCTTTTCCAAGCAAAGTCTGCTCGAGGAGTCTGGTAACTATGGATTTCCCCTCTTACAACTTTCAAACCAGAGTTGGAGACTCAGCATTGGGGTTCGGCCCTGCCCGTAGCACAGCCAAGCCCTACCTCTCGGTTATCTTTTCTCCCGTCACCACCCAGTAAGGTCATGTGCTTCCACCCCTGGTCGGATGTAACGCTGCCACTCATGTCGGTCCCTGAGATCCGGGCTGTTGTTGATGCATGGGCCTCAGTCACAGAGGAGCTGGGTGCCCAGTACCCTTGGGTGCAGGTTTGTGAGGTCGCCCCTTCCCCTGGATGGGCAGGGAGGGGGTGATGAAGCTTTGGTTCTGGGGAGTAACATTTCTGTTTCCACAGGGTGTGGTCAGGAGGGAGTTGACTTGGTGTCTTTTGGCTAACAGAGCTCCGTATCCCTATCTGATAGATCTTTGAAAACAAAGGTGCCATGATGGGCTGTTCTAACCCCCACCCCCACTGCCAGGTAAGGGTGTCAGGGGCTCCAGTGGGTTTCTTGGCTGAGTCTGAGCCAGCACTGTGGACATGGGAACAGGATTAATGGATGGGACAGAGGAAATATGCCAATGATGTGGAGGCTTGGAGGTAAAGGACCTGCCTGTTCTTCTCTGCTTTTGCCCCTTGACAGGTATGGGCCAGCAGTTTCCTGCCAGATATTGCCCAGCGTGAGGAGCGATCTCAGCAGGCCTATAAGAGTCAGCATGGAGAGCCCCTGCTAATGGAGTACAGCCGCCAGGAGCTACTCAGGAAGGTGGGAGAGAGCCAAGCCCTGTGTCCCCAAGGAGTCCCTAACTTTCTTATCCCATGAGAGAGGTGTGTAAAGGAGAAAGCTAGAGGTGAACTAGTAGAGAGAGACTTGCTAGGAGGCCTTAGCAATAATCCAGTAATCTAAAGGAAAGATGATGGTGACTTAGACTCGGGTGGTTAGTGGTAGAGGTGGTGAGAAGACATCAGATCCTGGGCACATTCTTTTCTTCTGCTTCCCTTGCCTATTTGCTGACCACACTCCGGCTCCTATGTCACCTTGATGACTTCCTATCCATTCTGTCTTCCTAGGAACGTCTGGTCCTAACCAGTGAGCACTGGTTAGTACTGGTCCCCTTCTGGGCAACATGGCCCT	C	A34645666C	GALT	NM_000155.2(GALT):c.-1039_753del	noncoding	Pathogenic
9	34646745	C	TT	C34646745T	GALT	NM_000155.4(GALT):c.41delinsTT:p.Ala14fs	coding	Pathogenic/Likely_pathogenic
9	34646775	T	TA	C34646776A	GALT	NM_000155.4(GALT):c.71_72insA:p.Phe24fs	coding	Pathogenic
9	34646787	GT	G	T34646788A	GALT	NM_000155.4(GALT):c.82+2del	noncoding	Pathogenic
9	34647138	GTCAGC	G	G34647142C	GALT	NM_000155.4(GALT):c.136_140del:p.Ala46fs	coding	Pathogenic
9	34647211	GACCCTCTC	G	C34647213A	GALT	NM_000155.4(GALT):c.207_214del:p.Asp69fs	coding	Pathogenic
9	34647223	CCT	C	C34647226G	GALT	NM_000155.4(GALT):c.218_219CT[1]:p.Leu74fs	coding	Pathogenic
9	34647226	C	CG	T34647227G	GALT	NM_000155.4(GALT):c.220_221insG:p.Leu74fs	coding	Pathogenic
9	34647661	C	CA	G34647663A	GALT	NM_000155.4(GALT):c.334dup:p.Ser112fs	coding	Pathogenic
9	34647684	CA	C	A34647687G	GALT	NM_000155.4(GALT):c.359del:p.Lys120fs	coding	Pathogenic
9	34647706	G	GT	A34647708T	GALT	NM_000155.4(GALT):c.377+2dup	noncoding	Pathogenic
9	34647754	TCAGCATTGGGGTTCGGCCCTGCCCGTAGCACAGCCAAGCCCTACCTCTCGGTTATCTTTTCTCCCGTCACCACCCAGTAAGGTCATGTGCTTCCACCCCTGGTCGGATGTAACGCTGCCACTCATGTCGGTCCCTGAGATCCGGGCTGTTGTTGATGCATGGGCCTCAGTCACAGAGGAGCTGGGTGCCCAGTACCCTTGGGTGCAGGTTTGTGAGGTCGCCCCTTCCCCTGGATGGGCAGGGAGGGGGTGATGAAGCTTTGGTTCTGGGGAGTAACATTTCTGTTTCCACAGGGTGTGGTCAGGAGGGAGTTGACTTGGTGTCTTTTGGCTAACAGAGCTCCGTATCCCTATCTGATAGATCTTTGAAAACAAAGGTGCCATGATGGGCTGTTCTAACCCCCACCCCCACTGCCAGGTAAGGGTGTCAGGGGCTCCAGTGGGTTTCTTGGCTGAGTCTGAGCCAGCACTGTGGACATGGGAACAGGATTAATGGATGGGACAGAGGAAATATGCCAATGATGTGGAGGCTTGGAGGTAAAGGACCTGCCTGTTCTTCTCTGCTTTTGCCCCTTGACAGGTATGGGCCAGCAGTTTCCTGCCAGATATTGCCCAGCGTGAGGAGCGATCTCAGCAGGCCTATAAGAGTCAGCATGGAGAGCCCCTGCTAATGGAGTACAGCCGCCAGGAGCTACTCAGGAAGGTGGGAGAGAGCCAAGCCCTGTGTCCCCAAGGAGTCCCTAACTTTCTTATCCCATGAGAGAGGTGTGTAAAGGAGAAAGCTAGAGGTGAACTAGTAGAGAGAGACTTGCTAGGAGGCCTTAGCAATAATCCAGTAATCTAAAGGAAAGATGATGGTGACTTAGACTCGGGTGGTTAGTGGTAGAGGTGGTGAGAAGACATCAGATCCTGGGCACATTCTTTTCTTCTGCTTCCCTTGCCTATTTGCTGACCACACTCCGGCTCCTATGTCACCTTGATGACTTCCTATCCATTCTGTCTTCCTAGGAACGTCTGGTCCTAACCAGTGAGCACTGGTTAGTACTGGTCCCCTTCTGGGCAACATGGCCCTACCAGACACTGCTGCTGCCCCGTCGGCATGTGCGGCGGCTACCTGAGCTGACCCCTGCTGAGCGTGATGGTCAGTCTCCCAAGTAGGATCCTGGGGCTAGGCACTGGATGGAGGTTGCTCCCAGTAGGGTCAGCATCTGGACCCCAGGCTGAGAGTCAGGCTCTGATTCCAGATCTAGCCTCCATCATGAAGAAGCTCTTGACCAAGTATGACAACCTCTTTGAGACGTCCTTTCCCTACTCCATGGGCTGGCATGGTGAGGCTTTTCAAGTACCTATATTTAGCCCCAACACCATTTCTGGGCTCCTGGGGCTCAGCCTAGTGAACTGCAACCTCAAAGGAGCAAGCCTTGAAACAGTTGCTGGGGGAAGTGGCCAGAGTAGAGATGCTGGGACTGAGGGTGGAGCAGCAAACTTGGTGAAACTACATCTCCAATGTGCTTTCTAATCTCCTGCCAGCTCTTCTCAAGCAGGGGATCCTGGGAGATGTAGTTTTCAGATACCTGGTTGGGTTTGGGAGTAGGTGCTAACCTGGATAACTGTAAAAGGGCTCTCTCTCCCCACTGTCTCTCTTCTTTCTGTCAGGGGCTCCCACAGGATCAGAGGCTGGGGCCAACTGGAACCATTGGCAGCTGCACGCTCATTACTACCCTCCGCTCCTGCGCTCTGCCACTGTCCGGAAATTCATGGTTGGCTACGAAATGCTTGCTCAGGCTCAGAGGGACCTCACCCCTGAGCAGGTCAGGACTCAGAACAGTCTGGCGTCTCCAGACTCTCACATGCAGTATGTGCAGGCACCTGATACTTCTGTTGCCCTTGTGCTC	T	C34647758T	GALT	NM_000155.4(GALT):c.377+53_1059+87del	noncoding	Pathogenic
9	34647849	A	ACC	T34647854C	GALT	NM_000155.4(GALT):c.398_399dup:p.Trp134fs	coding	Pathogenic
9	34647853	CT	C	T34647854G	GALT	NM_000155.4(GALT):c.400del:p.Trp134fs	coding	Pathogenic
9	34647863	G	GT	A34647865T	GALT	NM_000155.4(GALT):c.410dup:p.Thr138fs	coding	Pathogenic
9	34647896	C	CG	C34647900G	GALT	NM_000155.4(GALT):c.445dup:p.Ala149fs	coding	Pathogenic
9	34648117	CT	C	T34648120G	GALT	NM_000155.4(GALT):c.513del:p.Phe171fs	coding	Pathogenic
9	34648135	C	CG	A34648136G	GALT	NM_000155.4(GALT):c.528_529insG:p.Met177fs	coding	Pathogenic
9	34648330	ACAGGTATGGGCCAG	A	G34648334T	GALT	NM_000155.3(GALT):c.565_578delGTATGGGCCAGCAG:p.Val189Phefs	noncoding	Pathogenic
9	34648364	GC	G	C34648367A	GALT	NM_000155.4(GALT):c.598del:p.Gln200fs	coding	Pathogenic/Likely_pathogenic
9	34648425	T	TG	A34648428G	GALT	NM_000155.4(GALT):c.658dup:p.Glu220fs	coding	Pathogenic
9	34648786	CACTGGTTAGT	C	T34648793C	GALT	NM_000155.4(GALT):c.719_728del:p.Leu240fs	coding	Pathogenic
9	34648841	TGCC	T	G34648842C	GALT	NM_000155.4(GALT):c.768_770del:p.Pro257del	coding	Pathogenic
9	34648864	CTA	TAG	C34648864T	GALT	NM_000155.3(GALT):c.790_792invCTA:p.Leu264Ter	coding	Pathogenic/Likely_pathogenic
9	34649000	CT	C	T34649001A	GALT	NM_000155.4(GALT):c.824del:p.Leu275fs	coding	Pathogenic
9	34649056	CT	C	T34649059C	GALT	NM_000155.4(GALT):c.882del:p.Tyr296fs	coding	Pathogenic
9	34649453	GC	G	C34649454A	GALT	NM_000155.4(GALT):c.949del:p.Gln317fs	coding	Pathogenic
9	34649456	GC	G	C34649457T	GALT	NM_000155.4(GALT):c.952del:p.Leu318fs	coding	Pathogenic
9	34649480	GC	G	C34649481T	GALT	NM_000155.4(GALT):c.976del:p.Leu326fs	coding	Pathogenic
9	34649482	TC	T	C34649484T	GALT	NM_000155.4(GALT):c.979del:p.Leu327fs	coding	Pathogenic
9	34649551	TC	T	C34649552A	GALT	NM_000155.4(GALT):c.1047del:p.Thr350fs	coding	Pathogenic
9	34649553	AC	A	C34649557T	GALT	NM_000155.4(GALT):c.1052del:p.Pro351fs	coding	Pathogenic/Likely_pathogenic
9	34650380	AC	A	C34650381T	GALT	NM_000155.4(GALT):c.1072del:p.Arg357_Leu358insTer	coding	Pathogenic
9	35061696	G	GACAGTACACAA	T35061711G	VCP	NM_007126.5(VCP):c.1082-18_1082-8dup	noncoding	Benign
9	35074172	GGACGGATCCA	G	A35074174C	FANCG	NM_004629.1(FANCG):c.1795_1804del:p.Trp599Profs	coding	Pathogenic
9	35074205	A	AG	A35074211G	FANCG	NM_004629.2(FANCG):c.1771dup:p.Leu591fs	coding	Pathogenic
9	35074381	CT	C	T35074383C	FANCG	NM_004629.2(FANCG):c.1749del:p.Asp584fs	coding	Pathogenic
9	35074481	AG	A	G35074482T	FANCG	NM_004629.2(FANCG):c.1649del:p.Thr550fs	coding	Pathogenic
9	35074969	TG	T	G35074971T	FANCG	NM_004629.2(FANCG):c.1593del:p.Ala533fs	coding	Pathogenic
9	35074989	AC	A	C35074992A	FANCG	NM_004629.2(FANCG):c.1573del:p.Trp524_Val525insTer	coding	Pathogenic
9	35075681	TG	T	G35075683A	FANCG	NM_004629.2(FANCG):c.1216del:p.Gln406fs	coding	Pathogenic
9	35075681	T	TG	A35075684G	FANCG	NM_004629.2(FANCG):c.1216dup:p.Gln406fs	coding	Pathogenic
9	35075705	AAAAACACCTC	A	A35075707G	FANCG	NM_004629.1(FANCG):c.1183_1192del:p.Glu395fs	coding	Pathogenic
9	35075706	AAAACACCTCA	G	A35075706G	FANCG	NM_004629.2(FANCG):c.1182_1192delinsC:p.Glu395fs	coding	Pathogenic
9	35075739	A	AG	T35075746G	FANCG	NM_004629.2(FANCG):c.1158dup:p.Ser387fs	coding	Pathogenic
9	35075739	AG	A	G35075745T	FANCG	NM_004629.1(FANCG):c.1158del:p.Ser387fs	coding	Pathogenic
9	35076499	G	GT	G35076501T	FANCG	NM_004629.2(FANCG):c.1008dup:p.Pro337fs	coding	Pathogenic
9	35076764	T	TC	A35076770C	FANCG	NM_004629.2(FANCG):c.883dup:p.Asp295fs	coding	Pathogenic
9	35076822	CCT	C	C35076825T	FANCG	NM_004629.2(FANCG):c.822_823AG[1]:p.Glu275fs	coding	Pathogenic
9	35077266	TGGCGGTA	T	G35077270A	FANCG	NM_004629.1(FANCG):c.637_643del:p.Tyr213fs	coding	Pathogenic
9	35077289	GA	G	A35077290G	FANCG	NM_004629.2(FANCG):c.620del:p.Leu207fs	coding	Pathogenic
9	35078602	CA	C	A35078603C	FANCG	NM_004629.2(FANCG):c.307+2del	noncoding	Pathogenic
9	35078667	G	GC	T35078671C	FANCG	NM_004629.2(FANCG):c.244dup:p.Ala82fs	coding	Pathogenic
9	35079169	G	GC	T35079173C	FANCG	NM_004629.1(FANCG):c.156dup:p.Leu53fs	coding	Pathogenic
9	35079976	T	TA	G35079977A	FANCG	NM_004629.1(FANCG):c.-453_-452insT	noncoding	Benign
9	35090213	CT	C	T35090214G	PIGO	NM_032634.4(PIGO):c.2921del:p.Gln974fs	coding	Pathogenic
9	35091695	C	CG	A35091703G	PIGO	NM_032634.4(PIGO):c.2191dup:p.Arg731fs	coding	Pathogenic
9	35091695	CG	C	G35091702A	PIGO	NM_032634.4(PIGO):c.2191del:p.Arg731fs	coding	Pathogenic
9	35092020	TCAGGGCATATGCACCA	T	C35092021T	PIGO	NM_032634.4(PIGO):c.1851_1866del:p.Asn617fs	coding	Pathogenic
9	35092076	C	CG	C35092081G	PIGO	NM_032634.4(PIGO):c.1810dup:p.Arg604fs	coding	Pathogenic/Likely_pathogenic
9	35092337	GC	G	C35092339A	PIGO	NM_032634.4(PIGO):c.1549del:p.Ala517fs	coding	Pathogenic
9	35092530	CCG	C	G35092532C	PIGO	NM_032634.4(PIGO):c.1355_1356del:p.Ala452fs	coding	Pathogenic
9	35092614	TCA	T	C35092617G	PIGO	NM_032634.4(PIGO):c.1269_1270TG[1]:p.Val424fs	coding	Pathogenic
9	35092699	CA	C	A35092700G	PIGO	NM_032634.4(PIGO):c.1187del:p.Leu396fs	coding	Pathogenic
9	35094280	TG	T	G35094283A	PIGO	NM_032634.4(PIGO):c.590del:p.Pro197fs	coding	Pathogenic
9	35095127	TA	T	A35095130G	PIGO	NM_032634.4(PIGO):c.438del:p.Phe146fs	coding	Pathogenic
9	35095361	G	GC	G35095363C	PIGO	NM_032634.4(PIGO):c.204dup:p.Arg69fs	coding	Pathogenic
9	35095387	GC	G	C35095391A	PIGO	NM_032634.4(PIGO):c.178del:p.Ala60fs	coding	Pathogenic
9	35095430	C	CT	G35095432T	PIGO	NM_032634.4(PIGO):c.135dup:p.Gly46fs	coding	Pathogenic
9	35095474	G	GT	G35095476T	PIGO	NM_032634.4(PIGO):c.91dup:p.Thr31fs	coding	Pathogenic
9	35657745	CA	C	A35657751C	RMRP	NR_003051.3(RMRP):n.268del	noncoding	Benign
9	35657927	CT	GC	C35657927G	RMRP	NR_003051.3(RMRP):n.91_92delinsGC	noncoding	Pathogenic
9	35657962	A	AG	A35657967G	RMRP	NR_003051.3(RMRP):n.56dup	noncoding	Benign
9	35658015	A	AACCACGTCCTCAGCTTC	A35658035C	RMRP	NR_003051.3(RMRP):n.-14_3dup	noncoding	Pathogenic
9	35658017	C	CCACGTCCTCAGCTT	A35658035G	RMRP	NR_003051.3(RMRP):n.-13_1dup14	noncoding	Pathogenic
9	35658020	C	CGTCCTCAGCTTCACAGA	A35658040C	RMRP	NR_003051.3(RMRP):n.-19_-3dup	noncoding	Pathogenic/Likely_pathogenic
9	35658020	C	CGTCCTCAGCTTCACAGAGTA	A35658043C	RMRP	NR_003051.3(RMRP):n.-22_-3dup	noncoding	Pathogenic/Likely_pathogenic
9	35658023	C	CCTCAGG	C35658029G	RMRP	NR_003051.3(RMRP):n.-6_-5insCCTGAG	noncoding	Pathogenic
9	35658029	C	CTTCACAGAGTAGTA	T35658046C	RMRP	NR_003051.3(RMRP):n.-25_-12dup	noncoding	Pathogenic/Likely_pathogenic
9	35658030	T	TTCACAGA	G35658038T	RMRP	NR_003051.3(RMRP):n.-19_-13dup	noncoding	Pathogenic/Likely_pathogenic
9	35658035	A	AGAGTAGT	A35658043G	RMRP	NR_003051.3(RMRP):n.-24_-18dup	noncoding	Pathogenic/Likely_pathogenic
9	35683243	T	TGG	T35683252G	TPM2	NM_003289.4(TPM2):c.773-10_773-9dup	noncoding	Benign
9	35683243	T	TG	T35683252G	TPM2	NM_213674.1(TPM2):c.772+995dup	noncoding	Benign/Likely_benign
9	35683244	G	GT	G35683245T	TPM2	NM_213674.1(TPM2):c.772+1001_772+1002insA	noncoding	Benign/Likely_benign
9	35684739	G	GCCTGGGCCTCCA	G35684752C	TPM2	NM_003289.4(TPM2):c.620_631dup:p.Ala211_Asp212insValGluAlaGln	coding	Pathogenic
9	35684825	C	CG	C35684834G	TPM2	NM_213674.1(TPM2):c.639+231dup	noncoding	Benign
9	35685346	GGAGT	G	T35685350A	TPM2	NM_213674.1(TPM2):c.493-11_493-8del	noncoding	Benign/Likely_benign
9	35685508	TCTC	T	C35685512A	TPM2	NM_213674.1(TPM2):c.412_414GAG[1]:p.Glu139del	coding	Pathogenic
9	35685700	AG	A	G35685701C	TPM2	NM_213674.1(TPM2):c.320del:p.Ala107fs	coding	Pathogenic
9	35689175	GT	G	T35689178C	TPM2	NM_213674.1(TPM2):c.210del:p.Lys70fs	coding	Pathogenic
9	35689238	GCTT	G	T35689244G	TPM2	NM_213674.1(TPM2):c.142_144AAG[1]:p.Lys49del	coding	Pathogenic
9	35689795	ATCT	A	C35689803G	TPM2	NM_213674.1(TPM2):c.14_16AGA[2]:p.Lys7del	coding	Pathogenic
9	35738147	AG	A	G35738148C	GBA2	NM_020944.3(GBA2):c.2202del:p.Tyr735fs	coding	Pathogenic
9	35739118	G	GC	A35739119C	GBA2	NM_020944.3(GBA2):c.1688-10_1688-9insG	noncoding	Benign
9	35739676	GAC	G	C35739680T	GBA2	NM_020944.3(GBA2):c.1532_1533del:p.Cys511fs	coding	Pathogenic
9	35739735	G	GTGCC	C35739741G	GBA2	NM_020944.3(GBA2):c.1471_1474dup:p.Thr492fs	coding	Pathogenic
9	35793976	AT	A	T35793978A	NPR2	NM_003995.4(NPR2):c.748del:p.Tyr250fs	coding	Pathogenic
9	35800124	AT	A	T35800126G	NPR2	NM_003995.3(NPR2):c.1092del:p.Ile364fs	coding	Pathogenic
9	35800477	CT	C	T35800480C	NPR2	NM_003995.4(NPR2):c.1215del:p.Gln406fs	coding	Pathogenic
9	35802549	GC	G	C35802550A	NPR2	NM_003995.3(NPR2):c.1758delC:p.Cys586Terfs	coding	Pathogenic
9	35807028	TG	T	G35807030C	NPR2	NM_003995.4(NPR2):c.2527del:p.Ala843fs	coding	Pathogenic
9	35807404	AGCTGGGGCC	A	G35807409T	NPR2	NM_003995.3(NPR2):c.2712+11_2712+19del	noncoding	Benign
9	36219860	C	CCT	G36219865C	GNE	NM_005476.7(GNE):c.1792_1793dup:p.Glu599fs	coding	Pathogenic
9	36219938	CACA	C	C36219943G	GNE	NM_005476.7(GNE):c.1710TGT[1]:p.Val572del	coding	Pathogenic/Likely_pathogenic
9	36219967	AG	A	G36219968A	GNE	NM_005476.7(GNE):c.1686del:p.Cys563fs	coding	Pathogenic/Likely_pathogenic
9	36222773	TTACC	T	A36222775G	GNE	NM_001128227.2(GNE):c.1726_1726+3delGGTA	noncoding	Pathogenic
9	36222862	ATT	A	T36222863G	GNE	NM_005476.7(GNE):c.1546_1547del:p.Asp515_Asn516insTer	coding	Pathogenic
9	36222899	A	AG	T36222906G	GNE	NM_005476.7(GNE):c.1510dup:p.Leu504fs	coding	Pathogenic
9	36227398	GA	G	A36227399T	GNE	NM_005476.7(GNE):c.1130del:p.Ile377fs	coding	Pathogenic
9	36229045	A	AGGTGCAGTTT	G36229054T	GNE	NM_005476.7(GNE):c.1045_1046insAAACTGCACC:p.Leu349fs	coding	Pathogenic
9	36233940	CG	C	G36233941T	GNE	NM_005476.7(GNE):c.961del:p.Arg321fs	coding	Pathogenic
9	36233994	CA	AC	C36233994A	GNE	NM_005476.7(GNE):c.907_908delinsGT:p.Cys303Val	coding	Pathogenic
9	36236920	C	CT	A36236923T	GNE	NM_005476.7(GNE):c.680dup:p.His228fs	coding	Pathogenic/Likely_pathogenic
9	36236964	C	CT	A36236968T	GNE	NM_005476.7(GNE):c.636dup:p.Asp213fs	coding	Pathogenic/Likely_pathogenic
9	36246029	AC	A	C36246031T	GNE	NM_005476.7(GNE):c.616+1del	noncoding	Pathogenic/Likely_pathogenic
9	36246042	C	CGAAT	T36246049A	GNE	NM_005476.7(GNE):c.601_604dup:p.Arg202fs	coding	Pathogenic
9	36246175	CAT	C	A36246176G	GNE	NM_005476.7(GNE):c.470_471del:p.His157fs	coding	Pathogenic
9	36246248	A	AAT	G36246251A	GNE	NM_005476.7(GNE):c.397_398dup:p.Glu134fs	coding	Pathogenic
9	37422747	GC	AT	G37422747A	GRHPR	NM_012203.2(GRHPR):c.-4_-3delinsAT	noncoding	Pathogenic
9	37422794	TA	T	A37422795C	GRHPR	NM_012203.2(GRHPR):c.45del:p.Ala17fs	coding	Pathogenic
9	37424861	TG	T	G37424864A	GRHPR	NM_012203.2(GRHPR):c.103del:p.Asp35fs	coding	Pathogenic
9	37425952	CTG	C	T37425955G	GRHPR	NM_012203.2(GRHPR):c.246_247TG[1]:p.Val83fs	coding	Pathogenic
9	37426533	CGTA	C	A37426536G	GRHPR	NM_012203.2(GRHPR):c.288-2_288del	noncoding	Pathogenic
9	37426623	CG	C	G37426625T	GRHPR	NM_012203.2(GRHPR):c.375del:p.Leu126fs	coding	Pathogenic
9	37426652	GAAGT	G	A37426657G	GRHPR	NM_012203.2(GRHPR):c.404+3_404+6del	coding	Pathogenic/Likely_pathogenic
9	37428532	C	CA	C37428534A	GRHPR	NM_012203.2(GRHPR):c.454dup:p.Thr152fs	coding	Pathogenic/Likely_pathogenic
9	37429775	AT	A	T37429778C	GRHPR	NM_012203.2(GRHPR):c.540del:p.Leu181fs	coding	Pathogenic
9	37429828	CAG	C	A37429831T	GRHPR	NM_012203.2(GRHPR):c.591_592AG[1]:p.Glu198fs	coding	Pathogenic
9	37430519	CCT	C	C37430520G	GRHPR	NM_012203.2(GRHPR):c.608_609del:p.Pro203fs	coding	Pathogenic
9	37430526	TGGCTGCCCAATCTGATTTCATCGTCGTGGCCTGCTCCTTAACACCTGCAACCGAG	T	C37430529A	GRHPR	NM_012203.2(GRHPR):c.617_671del:p.Ala206fs	coding	Pathogenic
9	37430604	TC	T	C37430606A	GRHPR	NM_012203.2(GRHPR):c.694del:p.Gln232fs	coding	Pathogenic
9	37432054	GG	TAC	G37432054T	GRHPR	NM_012203.2(GRHPR):c.781_782delinsTAC:p.Gly261fs	coding	Pathogenic/Likely_pathogenic
9	37432134	CTG	C	T37432137G	GRHPR	NM_012203.2(GRHPR):c.862_863TG[2]:p.Val289fs	coding	Pathogenic
9	37436635	C	CCT	C37436653T	GRHPR	NM_012203.1(GRHPR):c.866-25CT[9]	noncoding	Benign
9	37781989	C	CTAAT	G37781997T	EXOSC3	NM_016042.4(EXOSC3):c.619_622dup:p.Arg208delinsAsnTer	coding	Pathogenic
9	37784741	CCCAGTAAACA	C	A37784744G	EXOSC3	NM_016042.4(EXOSC3):c.294_303del:p.Val99fs	coding	Pathogenic
9	37784889	CG	C	G37784891T	EXOSC3	NM_016042.4(EXOSC3):c.155del:p.Pro52fs	coding	Pathogenic
9	37784932	TC	T	C37784934G	EXOSC3	NM_016042.4(EXOSC3):c.112del:p.Glu38fs	coding	Pathogenic
9	38411406	GCGGTCAT	G	T38411410G	IGFBPL1	NM_001007563.3(IGFBPL1):c.824_830del:p.Asp275fs	coding	Benign
9	38411418	A	AT	G38411419T	IGFBPL1	NM_001007563.3(IGFBPL1):c.818_819insA:p.Pro274fs	coding	Benign
9	41960804	CA	C	A41960805G	CNTNAP3B	NM_001201380.2(CNTNAP3B):c.1844del:p.Leu615fs	coding	Benign
9	41998391	A	AT	A41998399T	CNTNAP3B	NM_001201380.3(CNTNAP3B):c.742+3dup	noncoding	Benign
9	69035935	GC	G	C69035939G	FXN	NM_000144.5(FXN):c.157del:p.Arg53fs	coding	Pathogenic
9	69053247	ATGTCT	TACACCTTGAGGACA	A69053247T	FXN	NM_000144.5(FXN):c.371_376delinsTACACCTTGAGGACA:p.Asp124_Ser126delinsValHisLeuGluAspThr	coding	Pathogenic
9	69174470	T	TCGTGAG	G69174487A	TJP2	NM_004817.4(TJP2):c.60+39CGTGAG[3]	noncoding	Benign
9	69212570	T	TA	T69212572A	TJP2	NM_004817.4(TJP2):c.84dup:p.Trp29fs	coding	Pathogenic
9	69221036	T	TG	C69221043G	TJP2	NM_004817.4(TJP2):c.498dup:p.Arg167fs	coding	Pathogenic
9	69221112	G	GACCTC	G69221119C	TJP2	NM_004817.4(TJP2):c.570_574dup:p.Ser192fs	coding	Pathogenic
9	69221309	GGCCT	G	G69221310A	TJP2	NM_004817.4(TJP2):c.766_769del:p.Ala256fs	coding	Pathogenic
9	69221325	TA	T	A69221326C	TJP2	NM_004817.4(TJP2):c.782del:p.Tyr261fs	coding	Pathogenic
9	69221353	GGC	G	C69221357G	TJP2	NM_004817.4(TJP2):c.811_812CG[1]:p.Ala273fs	coding	Pathogenic
9	69221357	CG	C	G69221361C	TJP2	NM_004817.4(TJP2):c.817del:p.Ala273fs	coding	Pathogenic
9	69221425	GC	G	C69221429A	TJP2	NM_004817.4(TJP2):c.885del:p.Ser296fs	coding	Pathogenic
9	69227793	AT	A	T69227797C	TJP2	NM_004817.4(TJP2):c.1243del:p.Ser415fs	coding	Pathogenic
9	69228021	GC	G	C69228022G	TJP2	NM_004817.4(TJP2):c.1361del:p.Ala454fs	coding	Pathogenic
9	69228106	AC	A	C69228112A	TJP2	NM_004817.4(TJP2):c.1451del:p.Pro484fs	coding	Pathogenic
9	69236128	A	AG	A69236133G	TJP2	NM_004817.4(TJP2):c.1885dup:p.Glu629fs	coding	Pathogenic
9	69240012	A	AT	C69240020T	TJP2	NM_004817.4(TJP2):c.2438dup:p.Asn814fs	coding	Pathogenic
9	69254205	TTAGTTCCAGACCCCCTGAGCCACAGAAAGCTCCTTCCAGACCTTATCAGGATACCAGAGGAAGTTATGGCAGTGATGCCGAGGAGGAGGAGTACCGCCAGCAGCTGTCAGAACACTCCAAGCGCGGTTACTATGGCCAGTCTGCCCGATACCGGGACACAGAATTA	T	T69254209A	TJP2	NM_004817.3(TJP2):c.3408_3573del166:p.Ser1136Argfs	noncoding	Pathogenic
9	69385787	TA	T	A69385790T	FAM189A2	NM_004816.4(FAM189A2):c.704-5del	noncoding	Benign
9	71685395	T	TA	G71685414A	CEMIP2	NM_013390.3(CEMIP2):c.3956-20dup	noncoding	Benign
9	72648657	C	CA	G72648664A	TMC1	NM_138691.2(TMC1):c.15dup:p.Val6fs	coding	Pathogenic
9	72688711	CA	C	A72688714T	TMC1	NM_138691.2(TMC1):c.22del:p.Ile8fs	coding	Pathogenic
9	72694692	A	AGGAGG	A72694698G	TMC1	NM_138691.2(TMC1):c.215_219dup:p.Arg74fs	coding	Pathogenic
9	72694706	GA	G	A72694707G	TMC1	NM_138691.2(TMC1):c.229del:p.Arg77fs	coding	Pathogenic
9	72700517	GAGA	G	G72700528A	TMC1	NM_138691.3(TMC1):c.238_240GAA[3]:p.Glu83del	coding	Benign/Likely_benign
9	72789306	G	GA	T72789314A	TMC1	NM_138691.2(TMC1):c.1220dup:p.Asn407fs	coding	Pathogenic
9	72791895	GT	G	T72791897A	TMC1	NM_138691.2(TMC1):c.1236del:p.Met413fs	coding	Pathogenic
9	72830449	AG	A	G72830450T	TMC1	NM_138691.2(TMC1):c.2130-1del	noncoding	Pathogenic
9	72830684	TTGG	T	T72830685A	TMC1	NM_138691.2(TMC1):c.2260+3_2260+5del	noncoding	Benign/Likely_benign
9	74642533	G	GC	A74642536C	RORB	NM_006914.4(RORB):c.357dup:p.Arg120fs	coding	Pathogenic
9	74800283	GC	G	C74800285T	TRPM6	NM_017662.5(TRPM6):c.2208del:p.Arg736fs	coding	Pathogenic
9	74816696	AT	A	T74816697G	TRPM6	NM_017662.5(TRPM6):c.1280del:p.His427fs	coding	Pathogenic
9	76706391	GTCCTGACACTGC	G	C76706394T	PRUNE2	NM_015225.3(PRUNE2):c.5871_5882del:p.Glu1957_Gln1960del	coding	Benign
9	77205338	GA	G	A77205343C	VPS13A	NM_033305.3(VPS13A):c.218del:p.Asn73fs	coding	Pathogenic
9	77205380	AATTT	A	T77205386C	VPS13A	NM_033305.3(VPS13A):c.257_260TTTA[1]:p.Leu88_Leu89insTer	coding	Pathogenic
9	77210667	AGCAT	A	T77210671G	VPS13A	NM_033305.3(VPS13A):c.551_554del:p.Met184fs	coding	Pathogenic
9	77220047	TACATA	T	A77220053G	VPS13A	NM_033305.3(VPS13A):c.849_853ACATA[1]:p.Asn285fs	coding	Pathogenic
9	77226544	TG	T	G77226546T	VPS13A	NM_033305.3(VPS13A):c.1305del:p.Trp435fs	coding	Pathogenic
9	77227431	CTA	C	A77227433G	VPS13A	NM_033305.3(VPS13A):c.1400_1401del:p.Leu466_Tyr467insTer	coding	Pathogenic
9	77273331	CCT	C	C77273336T	VPS13A	NM_033305.3(VPS13A):c.2484_2485del:p.Leu829fs	coding	Pathogenic
9	77276161	T	TA	C77276163A	VPS13A	NM_033305.3(VPS13A):c.2765dup:p.Tyr922Ter	coding	Pathogenic
9	77283461	TA	T	A77283463G	VPS13A	NM_033305.3(VPS13A):c.3227del:p.Lys1076fs	coding	Pathogenic
9	77293496	ATATTC	A	T77293500A	VPS13A	NM_033305.3(VPS13A):c.3499_3503del:p.Ser1167fs	coding	Pathogenic
9	77295589	A	AAC	T77295592A	VPS13A	NM_033305.3(VPS13A):c.3556_3557dup:p.Val1187fs	coding	Pathogenic
9	77307929	C	CT	A77307940T	VPS13A	NM_033305.3(VPS13A):c.3961-6dup	noncoding	Benign
9	77307953	TAGTC	T	G77307955A	VPS13A	NM_033305.3(VPS13A):c.3971_3974del:p.Ser1324fs	coding	Pathogenic
9	77315280	C	CA	G77315287A	VPS13A	NM_033305.3(VPS13A):c.4446dup:p.Asp1483fs	coding	Pathogenic
9	77315337	T	TG	C77315339G	VPS13A	NM_033305.3(VPS13A):c.4498dup:p.Ala1500fs	coding	Pathogenic
9	77321609	TACTCA	T	T77321612A	VPS13A	NM_033305.3(VPS13A):c.5696_5700del:p.Leu1899fs	coding	Pathogenic
9	77323140	CAG	C	A77323145T	VPS13A	NM_033305.3(VPS13A):c.5905_5906AG[2]:p.Glu1970fs	coding	Pathogenic
9	77332075	AC	A	C77332077T	VPS13A	NM_033305.3(VPS13A):c.6059del:p.Pro2020fs	coding	Pathogenic
9	77337440	AT	A	T77337442C	VPS13A	NM_033305.3(VPS13A):c.6283del:p.Ser2095fs	coding	Pathogenic
9	77339540	C	CT	A77339542T	VPS13A	NM_033305.3(VPS13A):c.6404dup:p.Ser2136fs	coding	Pathogenic
9	77344280	AG	A	G77344282T	VPS13A	NM_033305.3(VPS13A):c.7155+1del	coding	Pathogenic
9	77356791	TAGAG	T	G77356797A	VPS13A	NM_033305.3(VPS13A):c.7736_7739del:p.Arg2579fs	coding	Pathogenic
9	77369307	G	GC	A77369309C	VPS13A	NM_033305.3(VPS13A):c.8563dup:p.Gln2855fs	coding	Pathogenic
9	77370517	TGAATAAGCAACCA	T	A77370519C	VPS13A	NM_033305.3(VPS13A):c.8848_8860del:p.Asn2950fs	coding	Pathogenic
9	77371137	AG	A	G77371140A	VPS13A	NM_033305.3(VPS13A):c.9068del:p.Gly3023fs	coding	Pathogenic
9	77405870	A	ATTGT	A77405879T	VPS13A	NM_033305.3(VPS13A):c.9287_9290dup:p.Thr3098fs	coding	Pathogenic
9	77407559	CAG	C	A77407564T	VPS13A	NM_033305.3(VPS13A):c.9427_9428AG[2]:p.Glu3144fs	coding	Pathogenic
9	77728671	GA	G	A77728685T	GNAQ	NM_002072.5(GNAQ):c.736-5del	noncoding	Benign
9	77728671	G	GAA	T77728686A	GNAQ	NM_002072.5(GNAQ):c.736-18_736-17dup	noncoding	Benign
9	77728671	G	GA	T77728686A	GNAQ	NM_002072.5(GNAQ):c.736-18dup	noncoding	Benign
9	78240051	T	TC	G78240053C	CEP78	NM_001330691.3(CEP78):c.283dup:p.Arg95fs	coding	Pathogenic
9	78240065	TAA	T	A78240066G	CEP78	NM_001330691.3(CEP78):c.297_298del:p.Ile99fs	coding	Pathogenic
9	78241728	CT	C	T78241730A	CEP78	NM_001330691.3(CEP78):c.534del:p.Lys179fs	coding	Pathogenic
9	78243489	AC	A	C78243491T	CEP78	NM_001330691.3(CEP78):c.633del:p.Trp212fs	coding	Pathogenic
9	78262926	TAA	CTTT	T78262926C	CEP78	NM_001330691.3(CEP78):c.1400_1402delinsCTTT:p.Leu467fs	coding	Pathogenic
9	78262949	GT	G	T78262950G	CEP78	NM_001330691.3(CEP78):c.1424del:p.Val475fs	coding	Pathogenic/Likely_pathogenic
9	78265365	C	CG	A78265367G	CEP78	NM_001330691.3(CEP78):c.1626-6dup	noncoding	Benign
9	78300646	TG	T	G78300648C	PSAT1	NM_058179.4(PSAT1):c.107del:p.Gly36fs	coding	Pathogenic
9	78302009	TG	T	G78302010T	PSAT1	NM_058179.4(PSAT1):c.178del:p.Val60fs	coding	Pathogenic
9	78306347	CA	C	A78306348G	PSAT1	NM_058179.4(PSAT1):c.432del:p.Asp145fs	coding	Pathogenic
9	78328996	CCGGG	AGACCT	C78328996A	PSAT1	NM_058179.4(PSAT1):c.1023_1027delinsAGACCT:p.Arg342fs	coding	Pathogenic
9	83970228	TC	T	C83970229T	HNRNPK	NM_031263.4(HNRNPK):c.1294del:p.Asp432fs	coding	Pathogenic
9	83970332	CTGAAAAGATTTTT	C	G83970334A	HNRNPK	NM_031263.4(HNRNPK):c.1192-14_1192-2del	noncoding	Pathogenic
9	83970910	AC	A	C83970913T	HNRNPK	NM_002140.4(HNRNPK):c.1094delG	coding	Pathogenic
9	83971355	AC	A	C83971357T	HNRNPK	NM_002140.4(HNRNPK):c.1009delG	coding	Pathogenic
9	83971681	G	GT	A83971683T	HNRNPK	NM_031263.4(HNRNPK):c.998dup:p.Tyr333Ter	coding	Pathogenic
9	83971880	A	AC	T83971887C	HNRNPK	NM_002140.4(HNRNPK):c.953+1dupG	noncoding	Pathogenic
9	83971903	G	GAA	G83971904A	HNRNPK	NM_031263.4(HNRNPK):c.931_932insTT:p.Pro311fs	coding	Pathogenic
9	83971959	AG	A	G83971964A	HNRNPK	NM_031263.4(HNRNPK):c.875del:p.Pro292fs	coding	Pathogenic
9	83972055	A	AC	A83972058C	HNRNPK	NM_031263.4(HNRNPK):c.779dup:p.Phe261_Asp262insTer	coding	Pathogenic
9	83975489	GA	G	A83975492C	HNRNPK	NM_031263.4(HNRNPK):c.229del:p.Ser77fs	coding	Pathogenic
9	85588464	CG	C	G85588465T	AGTPBP1	NM_001286715.1(AGTPBP1):c.2892del:p.Tyr964Terfs	coding	Pathogenic
9	85657522	CTG	C	G85657524A	AGTPBP1	NM_001330701.2(AGTPBP1):c.820_821del:p.Gln274fs	coding	Pathogenic
9	87643366	T	TTA	A87643367T	DAPK1	NM_004938.4(DAPK1):c.919-10_919-9insTA	noncoding	Benign
9	89328882	C	CA	G89328886A	SECISBP2	NM_024077.5(SECISBP2):c.800dup:p.Gly268_Glu269insTer	coding	Pathogenic
9	91361692	GC	G	C91361696T	AUH	NM_001698.3(AUH):c.197del:p.Gly66fs	coding	Pathogenic
9	91361809	AC	A	C91361810T	AUH	NM_001351431.1(AUH):c.-318del	coding	Pathogenic
9	91723486	GCTCT	G	C91723489G	ROR2	NM_004560.4(ROR2):c.*170_*171AG[1]	noncoding	Benign
9	91724244	GC	G	C91724248A	ROR2	NM_004560.4(ROR2):c.2249del:p.Gly750fs	coding	Pathogenic
9	91724249	AG	A	G91724251C	ROR2	NM_004560.4(ROR2):c.2244del:p.Trp749fs	coding	Pathogenic
9	91724342	G	GACAGTCATCGGGGCAAGGCAGC	C91724367A	ROR2	NM_004560.4(ROR2):c.2130_2151dup:p.Pro718delinsAlaAlaLeuProArgTer	coding	Pathogenic
9	91724550	CAGCTTGT	C	C91724553T	ROR2	NM_004560.4(ROR2):c.1937_1943del:p.Tyr646fs	coding	Pathogenic
9	91726560	A	AG	C91726565G	ROR2	NM_004560.4(ROR2):c.1366dup:p.Leu456fs	coding	Pathogenic
9	91726601	TCGCCG	T	G91726603T	ROR2	NM_004560.4(ROR2):c.1321_1325del:p.Arg441fs	coding	Pathogenic
9	91731102	TG	T	G91731104T	ROR2	NM_004560.4(ROR2):c.990del:p.Thr331fs	coding	Pathogenic
9	91737443	G	GGTCC	G91737449T	ROR2	NM_004560.4(ROR2):c.566_569dup:p.Ile191fs	coding	Pathogenic
9	92038378	A	AAC	G92038390C	SPTLC1	NM_006415.4(SPTLC1):c.1137-23GT[6]	noncoding	Benign/Likely_benign
9	92719006	CATT	C	A92719007G	BICD2	NM_001003800.2(BICD2):c.1636_1638del:p.Asn546del	coding	Pathogenic/Likely_pathogenic
9	92723041	C	CCCTGACA	G92723043C	BICD2	NM_001003800.2(BICD2):c.454-234_454-233insGTGTCAG	noncoding	Benign
9	94603437	A	AC	T94603438C	FBP1	NM_000507.4(FBP1):c.960_961insG:p.Ser321fs	coding	Pathogenic
9	94603438	T	CC	T94603438C	FBP1	NM_000507.4(FBP1):c.960delinsGG:p.Ser321fs	coding	Pathogenic
9	94605552	GGGCCCCATAA	G	C94605555A	FBP1	NM_000507.4(FBP1):c.720_729del:p.Tyr241fs	coding	Pathogenic
9	94605616	TAAGA	T	A94605621G	FBP1	NM_000507.4(FBP1):c.706-44_706-41del	noncoding	Benign
9	94606815	TG	T	G94606821A	FBP1	NM_000507.4(FBP1):c.704del:p.Pro235fs	coding	Pathogenic
9	94606905	CTTTT	C	T94606908A	FBP1	NM_000507.4(FBP1):c.611_614del:p.Lys204fs	coding	Pathogenic/Likely_pathogenic
9	94609943	AC	A	C94609947A	FBP1	NM_000507.4(FBP1):c.544del:p.Val182fs	coding	Pathogenic
9	94620394	AG	A	G94620396A	FBP1	NM_000507.4(FBP1):c.267del:p.Phe90fs	coding	Pathogenic
9	94639140	CAGGTGCGCGATGCCCGCCTTGCGCACCGCCGAAGAGATGGCTTTGACTGCTGTGCAGAGCGAGTTGAGCAGCTGGGTCAACTCGCCCGTGCCGCGGGCCTTCCTGCCCTCCTCCATGACGAAGCGGGTCAGGGTGTTGACGTCCGTGTCGAAGGGCGCCTGGTCAGCCAT	C	A94639141G	FBP1	NM_000507.4(FBP1):c.1_170del:p.Met1fs	coding	Pathogenic
9	94639191	T	TGTGCAG	A94639198G	FBP1	NM_000507.4(FBP1):c.114_119dup:p.Cys39_Thr40dup	coding	Pathogenic
9	95101785	C	CCT	A95101787T	FANCC	NM_000136.3(FANCC):c.1598_1599insAG:p.Trp533Ter	coding	Pathogenic
9	95101828	G	GT	A95101831T	FANCC	NM_000136.3(FANCC):c.1555dup:p.Thr519fs	coding	Pathogenic
9	95101830	TATCTC	T	T95101832G	FANCC	NM_000136.3(FANCC):c.1549_1553del:p.Glu517fs	coding	Pathogenic/Likely_pathogenic
9	95101833	C	CT	C95101835T	FANCC	NM_000136.3(FANCC):c.1550dup:p.Ile518fs	coding	Pathogenic
9	95107158	C	CT	C95107160T	FANCC	NM_000136.3(FANCC):c.1440dup:p.Ala481fs	coding	Pathogenic
9	95107167	CTG	C	G95107171C	FANCC	NM_000136.3(FANCC):c.1428_1429CA[1]:p.Thr477fs	coding	Pathogenic
9	95107196	TGCAGGTCCTGG	T	A95107199T	FANCC	NM_000136.3(FANCC):c.1392_1402del:p.Gln465fs	coding	Pathogenic
9	95107210	TGA	T	A95107214G	FANCC	NM_000136.3(FANCC):c.1385_1386TC[1]:p.Ala464fs	coding	Pathogenic/Likely_pathogenic
9	95111394	C	CCTCTCTGCAAGCTCCTCTCAGCCCCCCAGAGCCCACCCCAAACACATGCAGTGGGGCCTGCTACCCACCATAGTCTGTGCTCTCTG	G95111483C	FANCC	NM_000136.3(FANCC):c.1312_1329+68dup	noncoding	Pathogenic
9	95111469	CTG	C	T95111472C	FANCC	NM_000136.3(FANCC):c.1321_1322del:p.Gln441fs	coding	Pathogenic
9	95111489	C	CA	T95111491A	FANCC	NM_000136.3(FANCC):c.1302dup:p.Gly435fs	coding	Pathogenic/Likely_pathogenic
9	95111534	TG	T	G95111540T	FANCC	NM_000136.3(FANCC):c.1257del:p.Thr420fs	coding	Pathogenic
9	95111534	T	TG	T95111541G	FANCC	NM_000136.3(FANCC):c.1257dup:p.Thr420fs	coding	Pathogenic/Likely_pathogenic
9	95126541	T	TC	A95126543C	FANCC	NM_000136.3(FANCC):c.883dup:p.Asp295fs	coding	Pathogenic
9	95149946	CT	C	T95149947C	FANCC	NM_000136.3(FANCC):c.662del:p.Glu221fs	coding	Pathogenic
9	95171080	GC	G	C95171082T	FANCC	NM_000136.3(FANCC):c.519del:p.Arg173fs	coding	Pathogenic
9	95171092	TA	T	A95171095T	FANCC	NM_000136.3(FANCC):c.507del:p.Phe169fs	coding	Pathogenic
9	95171109	TTC	T	C95171115G	FANCC	NM_000136.3(FANCC):c.485_486GA[2]:p.Asn164fs	coding	Pathogenic
9	95171109	TTCTC	T	C95171113G	FANCC	NM_000136.3(FANCC):c.485_486GA[1]:p.Glu163fs	coding	Pathogenic/Likely_pathogenic
9	95171114	T	TC	T95171116C	FANCC	NM_000136.3(FANCC):c.485dup:p.Glu163fs	coding	Pathogenic
9	95171132	TG	T	G95171133A	FANCC	NM_000136.3(FANCC):c.467del:p.Ser156fs	coding	Pathogenic
9	95172037	A	AT	A95172043T	FANCC	NM_000136.3(FANCC):c.455dup:p.Asn152fs	coding	Pathogenic
9	95172102	CTT	C	T95172103C	FANCC	NM_000136.3(FANCC):c.389_390del:p.Glu130fs	coding	Pathogenic
9	95172132	TATGAG	T	G95172135A	FANCC	NM_000136.3(FANCC):c.356_360del:p.Ser119fs	coding	Pathogenic
9	95172133	ATGAGA	T	A95172133T	FANCC	NM_000136.3(FANCC):c.355_360delinsA:p.Ser119fs	coding	Pathogenic
9	95172134	TGA	T	G95172137T	FANCC	NM_000136.3(FANCC):c.355_356TC[1]:p.His120fs	coding	Pathogenic
9	95244349	GTGAGCCGCGTTTTCCTAAGGGCTGGCACACACAAAAAAACACTTTGTAGGCTGGGTGCAGTGGCCCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCAGATCACAAGGTCAGGAGATTGAGACCATCCTGGCTAACACGGTGAAACCCCATCTCTAGTAAGAATACAAAAAATTAGCTGGATGTGGTGGTGGGTGCCTATAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCCCTTGAACCTGGGAGGCAAAGGTTGCAGTGAGCCGAGATCACGCCACTGCACTCCAGCCTAGGCAACAGAGCAAGACTTTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAACCCAACACTTGGTAAATACCTGCTGAATTAATATGTATGTGCAAGTGAAGCTGGCTAGTGGGAATGCCAAGACTGGAACACTTCGATCACAAGATGTGATCCAATAGGGACAGAACATTACAGAAGGTGGACTTTAAAGTCACATGAGGAGTGGGGTTCTGGCTCTTCTTAGTGTTGTATTCTAGGGAAAGCGACTTATTGACTCTAATCCATAATTATCTACCCTGCAACACTGTCATCAAGAATTAATTAGGTCCATTATGTAGCCCACAGAGAACAGTGCCCAGCTCAAAGTGAGCAATGCCTCTCACACGACATCATAAACCTCCCCACGTTTCTCACATTTCTGACTTGAGGATGTATTACATCCACGATGTACATTTAAAGGACGTAATATTTCTTTCTTTCTAAAAAGCAATTAATAAATCCATGAAGCCCCTAACAATGGGTACTGCTTTCAAATGAAGGTCATTCAACAATTTCTTTTCCTTTTTCCTGCCATCGATATTGGCCTAGATCAATGTTCTTCAAACTTCTGGTCAAGAAGCATCAAGGGTTATGAAATCCAGTCTCGGGTCATGAACACCATTCACTATGAACAGCATAGTGAACATGGACTGCACAGAATAATAATACAATAGTCCCTCTTTATCAATGGCGGAAATATTCCAAGACCCTCAGGGGATGTCTGAAACTGAGAATAGTACCAAACCTTAAATACAGTGTTTTCTCCTATACACATACCTATGATAAAGTTTAACTTATAAACTAGGCATAGCAAGGGATTAACAATGACAACAATACAATAAATCAACTGTAACAATATAGTGTAATAGAAGTTATGTACTACACTATATTGTTACAGTTGATTTATTGTATTGTTGTCATTGTTAAACCCTTAGGCCAGGCACGGTGGCTCACACCTGTAATCCCAACACTTTGGGAGGTCGAGGCGGGTGAATCGCCTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTATTAAAAATGCAAAAATCAGCTGGGTGTGGTGGCAGGCACCTGTAATCCCAGCTACCTGGGAGGCTGAGGCAGGAGAATCACTTGAACCCGGGAGGCAGAGGTTGCGGTGAGCCGAGATAGTGCCATTGCACTCCAGCCTGGGTTGACAAGAGCAAAACTCTGTCTCAAAAAAAAAAAAAAAAGTTACATAAATGTGATCTCTCCATCTCTCTCAAAATCTTATTGTACTATACTGTGAGTAACTGCAAGTGCAGAAAGTCTAAGGGGGGTGCCATTGTATGCATTTTTTCATGAGATGTGTTTCACTGTGTGTGTGCATATCCACGTGCATATGCATATACATAATGTATTTCTGGTCAAAGATGTCTGAGAAACACTGACCTAACTGCAATAGATAAACCTAGGACAGGTAAGCGTGGTCCTGGTGGGCAAACACATTGCTGCCTCACTGGTTTTGCCATTTTGAATCAAGAACTTGAAGAAGTTTAGGGGTTGGGGGAAGAGGTATAAGTGGGAAGGAGGAGGGACATACGAGGGTGGGGTAGAGTGAGGGAGGCTGAGTGTGTGGGCGTCCACGCACGCCTGCTCACAGGGCTAAACACACATATTGTCCCTTTCCTGCCTAGTTCACGTCTCTTCCAATAATGATTATGACAACCTATAAATGGGAAACTGCATGATTCTTTAAAACATCAAAGGGGAATATTCATTTTATTTTGGGTTCTAATGTCATTATATTATGCAATTAGTCTTTGACTTTAAAAAATCTTAAAAGTAAATATTACATTAGCTAATAATACAGTCAATCCAAAGCAAACCTCAGCCATGTTCCTTGGGAGGCCCTAGGACAACAAAGAGAACTAAAACCATGGTTCCTGTTCTCGAGAGGCATGCTGTCTTCCCAGGGCATCAGACAGTGAAGTAAGTGTATTAAAGGGAGATGCTGGAGGCCATGGAGACACTCCCAGCAGCTCCTACCTCAGGCCAGTAAGGCTATTTCAAAGGAGAATGAGTGTGAAAGGAATCCTGACACAAAGTGCCTTCAGGCACTGTTAGTAATAGGACCTGGCTACCACCATGAGGTATAGCTGTGAAAGATGAAACAGGAAATGAGACTGGACAGCAGACAGGAGCTCAGTGAAGGAATACCTCCCCAAAGTGCCCCCACATTCATCTCCACCTTGGATAAAACCAAAATGGCACCCTTAAATAAGGTCAAAGCAGCCAATGTCAAAGGCAAAGTCACGGCAGGATTCACACTCTGAAGAATGACTTTACAACATGGGAAAGAGTGTGTGAGTTATGAAACCGTGAAACAAAATTAACTCGGTATCATTAGTATAGCCATTTTATATTGAATTTAAAATGAAGTTATGAAAGTGATTACAGGCAAAAGTAGATATTTAAATCATCTGGGAGTTTCTGTCCTCTAATACGAAGAGCTCTATTTTCCTGAAGATCTGCATGGGTGCGTGCACGCGTGTGTGTGTGTGTGTGTGTGTGTTTATCTATACAAACCTACACACACATACATGGACAACAGTATAGGAAGCCATCTTTGTAATAGAACAATGAATACATTTGATAAGTTGTTCCATTAAAAAAAAAAAACTAGGAGAAAGGTTCATAATGTAAGCCTCTGTGAAACAATGCAAAGATTAAAATAGCCATTTTGAGAGGACACGTTTTTGATTCTTACCATATGCTAAAATAAAAGGATTCCAACAAGCTTTTGCCAACAGTTGACCAATTGTGGGGAATCTTTCAATGACTGTATTAGAATCCTGTGAAAGAAAAATAAATTTTGGTCAGTAAAGGCATTATGCAACTTAGAAATACTGAACTGACATTATAGATTGAGGGAACGTGAATGCTTCTTGTTTAGTATACCATTTTTAAAAGTAAGCACAAAAGGATTAGAGAAGATCTTTAGGTAAGTAATTCAAATAAAGTTTAAAAAGCAACCAACCAACTTACTTCATCCTTAAATGGGGTCACCAAACTAAGATGTATGACATAGGTAAAATCAATTGTGTTGCAAAATTAATTCTACTCATACTTAATAGTCAGTAAAGGCTACTTTATTTAAAAATAATAAAGACTGCTTAAGAGTTGAAAACACATTATTGGTGATTAATAACTATATAATCCCGTATCTTTATCCTGGTTTTTTTATTCTAACATAAGAGAGGTTACGAACTCAGCTCCAGTAAGACTATTTCAAAGAAGAAGGTTTAAAGGGATGAGAACTCTGGAACTTGTAAAAAGAAATAAAAGCAGCCAAAGCATAAATGTATATATCTGTTTATTACTATTTTGAGTACTGTATGGCAAATGACATCATAGTCTGTAACAATCTAAACCCTGAAATAGAAAAAGGATCAACCAAATAGAAAACAGCTTA	AAAAAGTAAATTTAGTT	G95244349A	FANCC	NM_000136.3(FANCC):c.166-620_250+3083delinsAACTAAATTTACTTTTT	noncoding	Pathogenic
9	95249148	C	CATCT	T95249153A	FANCC	NM_000136.3(FANCC):c.140_143dup:p.Met48fs	coding	Pathogenic
9	95249224	TC	T	C95249227A	FANCC	NM_000136.3(FANCC):c.67del:p.Asp23fs	coding	Pathogenic
9	95249262	A	AC	A95249264C	FANCC	NM_000136.3(FANCC):c.29dup:p.Cys10fs	coding	Pathogenic
9	95249278	GAA	TTGATCTT	G95249278T	FANCC	NM_000136.3(FANCC):c.12_14delinsAAGATCAA:p.Asp4fs	coding	Pathogenic
9	95313839	AAACCACAGTCATCTCAATAGATGCAGAAAAGCAACATTTCTAACATTTGTTCATAAGAATTCTCAACAATCTAGTAACAGAAGGAAAATCTCTCAACCTGATAAAGTGCATTTATGAAAAACTTACAGCTAACGTCGTATCTAATGGTAAAAGATTAAATGTTTTCCCCCTAAGATGAGAAATAAGTCAATAATATACACTCCATGTCTATTCAGCAAAGTGCTGGAGGGTCGAACCAGGTAAGAAAAAAATTAATCAGGCAAAAAAGAAACTAAAGGCATCCACATGGAAAGAAAAGTAAAACTATATTGGCATGATGCCGTATGTAGAAAATCCTGTGTAATTCACAAAAAACTGGAAGTAATCATCAAGTTCAACAAGGAAGGTTGCAAGATATAAGATTAATAAGTGAAATCAAGTGTATGTTTATATACTGACAACAATCCATAATGAAATTTTAAAAATAATTCGGCTGCTCTACCTGTGGAGTAGCCATTCTTTATTCCTTTGCTTTCTTAATAAACTTGCTTTCGGCCGGGCGCAGTGACTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCGGGTCACGAGGTCAGGAGTTTGAGACCAGCCTGACCAATATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCCGGGCGTGGTGAAGGGTGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGAAGAATCGCTTGAACCCGGGAGGCGGAGATTGCAGTGAGCCGAGATCGTGCCACTGCACTCCAGTCTGGGCAAACAGAGCGAGACTCTGTCTCAAAAAAAAAACAAAAAACTTGCTTTCACTTTATCGATAAAAAAAATTTTAATGAAATTTTAAAAATAATTCAATTCACAATACCATCAAAAATAAAACTTCAAAATTAATTTACAAAAGGGCAAAATTTGTACACTGAAAATTACTAAATACTGCTAAGAGAAATTAAAGCGCTCAACAAATGGAAAGAGATTCCATGTTCATGATGAGATGGCAATTCTCCCCCAAATAGATATGCAAAATTAAATGCAATTCCTACAAAGTCTATCACAGCACGGTTTTCTGAAAAAAAATAACAAACTGATACTAAAATTTATATGGAAATGTAAGGAACCCTGAACCGCCAAAACAATTTTGAAAATGAAGAAAAACATTGGATAACTTACACTACTTAATTTCAAAACTTACTATAAAGCTGCCATAATCAAGATAATGTAATGCTGACATAAAAGGCATGCAGGTCTCTTACCCTCAGTCCCGTATTAAACTTGAGTTAGAAGATGCCAATCTCAAAATGGAGGTAAAACCATTGCCTGCTAGCCCCCAGTCCAACTCTGGTGGCCAATCTGAATTGTTACCAATTTTATTTTTCCAGACACGGTCTCAGTCTGCTGCCCAGTGTGGAGTGCAGTGGCGCAATCACAGTTCACTGTGGCCTCGACCTCCTGAACTCAGGTGATCCTCCACCTCAGCCTCCCGAGTAACTGGGACCACAGCCCCGCATCACTATGGCCGGCTAATTTCTTAACTTTTTGTAGAGACAGGGCTCTCTCTGTTGCCCACGCTGGACTCGAACTCCTGGGATCAAGTGATCCTTCCGCCTCCGCTTCCCAAAGTGCTGGGATTACAGGCATAAGCCACCATGCTCTGCCTGTTATCTGAATTGCCTTTCCTTCTCCACTTCTGCATTTTTATTAAAACATTGCAAAACTTCCAAGGTGCTTCTCCTGTATGTATTTTTTCACATTAAGTCAATCACTCAAGATCCACAAACAAGACAGAGAATGCACATATCCCAGCCTAAAATAAAACTTTTAAAAATCATTTGGTGCTCATTTCCAGCCCGATTTGAGGCCCTAACACTACCAACTTGGAACTACCACTCATGTGAGTTTCCTCTGGCTCTCTCCATGGCCCAGATAATCAATCCAACTTTCTACTGGCCAGGCTGGCCTCCCTGTAGCTGGTTCTCATAAACACGAAATTTGTATAATTGTTATTGGAACTACCTGCTGAAATATGGAACTGGTTAAAAGTACCATTTGTTTTAAAATGTACATGCACAGTTGCACATACATGCAGCAACACATCTTCCACAACCAGCCAATCAATCAAGTTAATGCTTTTTATTAGAGGACAAAACAAAAAATACCAATATAGAGCCTGCTTTTCTTTTCTGATGCCTTGGTAAACGTTTTTGGAGAAATCAAGAGAAAATATGACCGAATAAAGCAAAAATAAATTCGAATGTATAATATACAAAGTATAATTAGTCCAGTTCTCAAGAAGCAGGCTCTATTACTGGGAGTAGTGGGTTGGTGAAAAAGATCTCTGATATATCTAGGAAAACAAATTCTTTTTCGATGCAGCCTTTCTTGTATATGAATAATGTATATGAGTGCTTATTTCCAGGTGACTCTGGTACAGCACATAACATTGAAACATCAATTCAAGTTTAATGTATAAAGTCGCAATGAACATGTTTTCCATCTAAGCTTAGGTAATGAATGATCTCAACACATGGTATGAATTCTACTGTTTGTAACAACCTTTCAGGGGAGTAAGGAGAAAACGATCTGTCTGAGGGCATATCACTGACAGTGAGTGACAGCCACAAAGAGCTGAAGTTGGGTGGCCCAAAAGTGCTCTGCTCATTTGATAAATGCTAAGTCAAATCACATCACAGTTTAGATGCATTAAATGGGGCACAAGTTAGAATAAAATCAGATGCCCGGGAGTTTTCCAAGTTTCAGATTAGAACAAAAGTCCAGGCACATACAGGACTTTGCTAGAAAACTCCTTGGTCTCTTCCCTTAAGATTCTGGTACCCAATTTCCCATGTTATAAAACTCCAAGTCTTTTCCCCCATTCGGTGCGCTGGACACATAAGATCATAGAGGGTTCGTAGTTGTAAACGCACCCACCTAAAAAATTAAAAAGAGCAAACCAACAAACAGCACCTGAAAAATCTCTCACGGGCTTTGAAGATATGGCCTGGCGTCCACAAAAAGAATGGAGGGAAGACACTGGCCTCTGCGAACCCGCCTCCCTCCGGGAATAAAAGGCGGAGGGCGGGAGGGGTAACAGCCGCGCCCCGGGCTCCTCTAATTGGACCTCGCCCCTCCTGGCGCCCCGGCGAATGGGGTTTGGGGGCAGGGGTGTGAGGGACGGGGAGGACGAGGCCAGCTGTAGAGGGCGACCGGCTCAAAGGGGCGAGCTTTTCACGGCTCCCACGAGTCCGAGGCAGAGAAATTCACCTTTGCTCCTCTCCTTTGAAGAAGACATAGCTGCCTGCGCTCAATGAACAAAAAGAACCAAAACGCCAACACCCGGCTCCCGCCTCTCCGGGGGCTCCCTTCCGCGCGACCCCAGCGCCGGCTCCCGCCCCCGCTTTCCCCGCCCTGGCCCCGCCCCGCGGGCTGGCACCGCCCGCCACCTTCCGCCTCCCGCCTCCCGCCTCCCGCCTCAGCCTTAGCCACAGCCCTGCGCCGGCGGGAACCCCTCTCGCCCACCGCAAGGCGCGCCTGGCCCACCCGCTCTCGCGAGCCTTCCCTCTTGCCCCTCGCCTCCTCCTCCCGCTCTCGCCGCTGACGTGTCGGCCAGACCCCCGAGGGAAGCCTCCGCCCTCGCTGCGTTCTGCGGCCTGCCGCTTACCGGGTGGTCCTCGCGGGAGCTGCTTCAGCAGTTTGGGCAGTGGCGGAAAGGAAGCCACCGCCCGGGATCTGTGGCTTGAAAATTTGGCTTTGCCTCGTATTGGCTTTTTGAGTTTTTTTGGAATTTTCCCGCGGTCGCCCGGCAGTGGAGCCGCGCGCGCGCACACGTGTCAGCAGTGCATTCT	A	A95313840G	FANCC	NM_000136.3(FANCC):c.-262_-79+3686del	noncoding	Pathogenic
9	95444808	GACATGTGCTGGTCTCTGGTTACGAGATGAGGGAGCCCACACCTCAGAGCAAAAGAAGAGAACCAGTACAGAAGCAACTTTTAAAAATATGCCTGGTTGAGAGACCTGCCCCTGCCTACATCTTTCAGTGGGGTGTGTCCATCCTCCTGCTTTCCCACATCACATTGAAAGAGCACTAATGACGGGGAGGATGGAGACAATGTTTGGATTTACTTAGGAAGCACGTACCCTAAACACTGGTGCATGAAGAATCCCCCCGGAGCTCTTATCCTACATAATGCCTGCCTCTACACCACAATGCATGCTCACCACTTAGTTTTAAAGAAGATGCAAACAGATCTAGAAAGCCTCAACCAGCTGCTCCATTTAAGAGAGGGAGTTTAAACTATAGGGACTCAAAACATCATTTCTGGGAGACTGTGGGCCAAGAAAGAATTAACTAAATAGGTTTTTCTACCTGTGACAGGGCCACATCCACTCTTGAATTTGGGGGTGTTGGGGGAGGGGTCGTGTGTGTGTTGGTCAGAAGAGGGGCACCATGCTGCATGCTTTTTAGAGTATACAGACTCTCATGGCCCAGCCAAGGCTCAGCACTAGGCATGTCACCGAATTCTCTAACACCCACCATGATGAACTGATGTGAGCTCCATACCCTGAGGTTCCAGCATCCATCACAATGATCCGAGAGAAGGAGATTATCCCCCTGAAGCACAAATTGGGGTCCTGGATGGCAGCCAATGATCATAAGAGATGCCGTAGACACGAGGAGAGTCTAGCTTTTGCCGGGCTGATTTGAAAGGATTAGGTGGATGTTTAGGGCCAGCCCTCACCAGCACGAAGAAAAGATATCCTGACGCTTCCAGCCTGACTAGGTCAGAGCCTACTACAGGTTACAGACAGTGTAGAGAAACAAAACAAGACAAAAAAAAAATCACAGTACAGTACATGGTGAACTCACACACGTGTTCACACGCACAGCCAAACAAGAGGACCGCACACAACGACACCTAGAGAAGCCACCAGGATTAACGTGCTTTCTTCATATCTGCTCATTAAACAAAAAAATTATCACGCATAGCGTGTTTGAAAGTTAACAGTAACATTTCATACTACCACAGGGTTGTGATATGCAAATTTAAAATATTTTAAACAGAAACCTTTACAAAATAATCCTATTACATAAGCAATATTTGCATAGAATTATACAAGTAAATTATACAATATTTAAGCAGCAGCAACATATGCTGAAATTTAAGACTAATGAAGCTTGGTTGTGGCACGGAGCCCAATGCACAAATACGGAGAGGCCCCACTGTGGCCTCCACACTCTGGGGCAGGAGTGGAGAAGCCCCAGATCATACCACTTTACATCCTTCCTTCCTATATTACACATGTGTACATCTCTTAAATATTTATAGAAATATTTAACAAAATAATACAATCGGTTACAGTAACAATGAACTGCTGTCCTGGCACAGGGCATCTTTTCCATAACTCCAACCAGTTCTCTTCAAGCAGTTCTGGAAAGAGGTGGGGGTGGGGGGTTTCCAATCTTTGGCCTCTTTGCTTCAGATTTTAATCACCCTTTAAAAGGAAGCAAAAAAGGAAGTTGAACAGAGTAAGAGGTGTGCAAGTCCGTATTTATAAAGTACAAAAGCAGGCAGCAGTAACCTTGGTATTAGAAATCACGAGAGTGGGGTGTGGGCCTGAGGTGTCCCTGGGGGCTGCTTGTGACCTCTCCCTTCATCTGGGGGCTGGTTACACGGATGCGTTCCCATGTGACCAATTCGCTGTGGCATGCACCTCCATAAAGACTGGCAAATATTGGTAAAAGGTGGTGCTGTTTGTGTCCTTGTGGCGCTGCACCGACCCTCCGCAGGTTAGCAGTGGGGGAAGAGAGCAGTGTGGAGCTGGACTGGTTCCCCAAGGATGACAAAGCTTGGACACATCAGCCTTGCTCTGGGGATAAAAGGTCACTGGGGTCCAGCGTGGGATGTGCCCGAGCGCCACAGCCCCTCGGGGATGCCGAGAACCCCAGGAGAACCTTGTCCTCCTCTTTGCCTGGCTCTAGGTCCCTTGGCTGCCCTTGTCAGTGGCACTCACCTCAGTTGGAGCTGCTTCCCCGGGGCCTCTCCTCGCATTCCACGTCCTGCAGCTCAATGACTTCCACCTTCGAATCCCTCCTCTCACACCGGACGTGGAAAGGCACGTGGGGGTCCTCAAACAGGCCGTGGTCAGTCTCAGGGTAGCCTGGGCAGAGTCCCCCTCGGGGGTTCCGCCCAGGCCCAGGGACAGGCGGCGGGTGCACGGCGACAGTCACGGAGGCAGAAGCCGTCACAGTGGTGATGGGCTGGCAGTAGCCGGGCACGGAGCTGCCCATGGCAGTGGACGCTGGGTTCCGAGGGTTGTGAGAACGGGCCCCGCGAGGGCCCCAGCGGGCCCTATTGCTAGGGCCAGAATGCCCTTCAGTAGAAATTTCAAAAGCGTCTCTGCGCGGTCTGTAGGGGGGTGGCCACAAGCCTTCTCTGGGGGGGTCCCTGCGGGGCTGCTGGCCTTGCCGTCCGGGAGGCAGGGACCCTGAGTCCAGGTGGGGCTGCTGTCTCGGGTTCGAGGGTGGGTGATGCCTGGATTCGGGATGGACCACCTGCAGAGGGTGAGGGTGGGTTAGAAGGGTGGTATCCCAGGCTGGGCATGGTCCCCGCAGCTCCCACACTTCCCTCCTTGGGTTTCACCAAAGACTCAGTCAACCCTGGGGAGCCAATGGGGGCCTTCCACCCACAAAAGAAAAGCCTGTCCTTCTAATAACCTCCAGGACCTGGCGGAGGAGCGTGTTGTTTGAAAATCCTGTTTCCAGGCTTTCTCTGACACGGCTGGCTGGACACGTACTGCTGCTGCCCATAAATGTGGGCTGTGGTCAGAGCATCCAAGCTGCTGCCCCCCACAACCTGCCCCCGACCCTGTTAGGTTCTGCAGGCTCTGAGCTGCCCCTCTCCCGAAGTTGCTAAGTGTGCGGCCCTGGCTGGCCTGAGTGCAGGACGCTGGCAGGACTGTCTCTGCCTACTCTGTCAAACACAGTAGCCGCTCCAGACATGTGGTTGCTTAAGTTTTAATGAACTAAAATCCAAAATCCAGCTCCTCGGTAGCCCCGGCCACATTTCAAGTGCTCCACAGCCACGTGTGGCCGGTGGCTCCCATCCTGGAAAGCAGAGAGGGCATTTTCGTCACTGCGGAGGGCTGTGGCGGGCAGCCTGTTCCATCTGATTGTTAAGAATCTGGTCTCTGCGTCTCTATACAAAGCACAGAGCAACACAGTGGCCACATCAATCAAAAGGACCGTGACCAACTTCAAAGTCGTTCAGCTTGTACCTATTTTTAGGCTCCTGCTGAACAAAACCAGATTCACACTGCAGCTCAGCGGGCGTCGTCGCGGGGGGTAGGAGGAGGACAATTCAGGTTATTTGGTTGGCCTTTCTCTCTTTCACGGAAGGGCTGCTCTGGCCTGGGACTGGAATACCCATTTCCTGGAGGGACAGCAGGGGGCCCTCAGTGGAGCAACATCAGCCCAGAACCTTCCTTGAGTTTTCAGGGCTGAGCCCATCCCAGGGAGCACAGGGTGGAGGAAAGGACCCAGGTCCTTGGAGCCTCCGAGGAGGGGCTCCCAGGCTCCTGGTGACCTCCTGAATCACTGAAGGCTAAGAACTCAGGGGTGGTTCTTGGCCTCTCTGCTCTTTCCTGCCACCTGGAACATGAGCTTGGAGCCCCAAAAGCTATGGTAAAGTATTTAGACAATAATAATGAATGTTGTATCAAGGGCATTGAAACCTAACAGAAATGAGAGAAGGAAAAAACCT	G	A95444809G	PTCH1	GRCh37/hg19_9q22.32(chr9:98207091-98210940)x1	noncoding	Pathogenic
9	95445728	C	CA	T95445739A	PTCH1	NM_000264.5(PTCH1):c.*664dup	noncoding	Benign
9	95447311	G	GA	G95447312A	PTCH1	NM_000264.5(PTCH1):c.3944_3945insT:p.Tyr1316fs	coding	Pathogenic
9	95449322	AC	A	C95449324T	PTCH1	NM_000264.5(PTCH1):c.3550del	coding	Pathogenic
9	95449847	ATAT	GGA	A95449847G	PTCH1	NM_000264.5(PTCH1):c.3540_3543delinsTCC:p.Tyr1181fs	coding	Pathogenic
9	95449855	CAAAG	C	A95449861C	PTCH1	NM_000264.5(PTCH1):c.3531_3534del:p.Phe1177fs	coding	Pathogenic
9	95449860	AAAGAC	A	G95449863A	PTCH1	NM_000264.5(PTCH1):c.3525_3529del:p.Leu1175fs	coding	Pathogenic
9	95449901	GC	G	C95449903G	PTCH1	NM_000264.5(PTCH1):c.3488del:p.Gly1163fs	coding	Pathogenic
9	95449906	GGATGGTGAGGATCGCCAGCACAGCAAAGAAATACCT	G	A95449908G	PTCH1	NM_000264.5(PTCH1):c.3450-2_3483del	coding	Pathogenic
9	95449929	GC	G	C95449930A	PTCH1	NM_000264.5(PTCH1):c.3460del:p.Ala1154fs	coding	Pathogenic
9	95449930	CA	C	A95449933G	PTCH1	NM_000264.5(PTCH1):c.3459del:p.Phe1153fs	coding	Pathogenic
9	95449939	AC	A	C95449941T	PTCH1	NM_000264.4(PTCH1):c.3450del:p.Arg1150Serfs	coding	Pathogenic
9	95453497	CAG	C	G95453499T	PTCH1	NM_000264.5(PTCH1):c.3428_3429del:p.Gly1142_Ser1143insTer	coding	Pathogenic
9	95453561	CAT	C	A95453562G	PTCH1	NM_000264.5(PTCH1):c.3364_3365del:p.Met1122fs	coding	Pathogenic
9	95453563	TG	T	G95453564T	PTCH1	NM_000264.5(PTCH1):c.3363del:p.His1121fs	coding	Pathogenic
9	95453612	C	CA	G95453614A	PTCH1	NM_000264.5(PTCH1):c.3314dup:p.Thr1106fs	coding	Pathogenic
9	95456294	G	GA	C95456297A	PTCH1	NM_000264.5(PTCH1):c.3287dup:p.Thr1097fs	coding	Pathogenic
9	95456299	C	CCA	T95456303A	PTCH1	NM_000264.5(PTCH1):c.3281_3282dup:p.Glu1095fs	coding	Pathogenic
9	95456331	A	AC	A95456334C	PTCH1	NM_000264.5(PTCH1):c.3250dup:p.Val1084fs	coding	Pathogenic
9	95458030	AG	A	G95458034T	PTCH1	NM_000264.5(PTCH1):c.3150del:p.Trp1051fs	coding	Pathogenic
9	95458038	AGAAG	A	G95458043A	PTCH1	NM_000264.5(PTCH1):c.3135_3138CTTC[1]:p.Phe1046_Leu1047insTer	coding	Pathogenic
9	95458055	C	CA	C95458057A	PTCH1	NM_000264.5(PTCH1):c.3125dup:p.Cys1043fs	coding	Pathogenic
9	95458082	GCTGATGAACAG	TTGGTGTT	G95458082T	PTCH1	NM_000264.5(PTCH1):c.3088_3099delinsAACACCAA:p.Leu1030fs	coding	Pathogenic
9	95458085	GAT	G	A95458086G	PTCH1	NM_000264.5(PTCH1):c.3094_3095del:p.Ile1032fs	coding	Pathogenic
9	95458109	GAGGCCGATGTACTGCTCCCAGAAGAGGA	G	C95458113G	PTCH1	NM_000264.5(PTCH1):c.3044_3071del:p.Phe1015fs	coding	Pathogenic
9	95458118	G	GTACT	G95458123T	PTCH1	NM_000264.5(PTCH1):c.3059_3062dup:p.Tyr1021Ter	coding	Pathogenic
9	95458138	AG	A	G95458142T	PTCH1	NM_000264.5(PTCH1):c.3042del:p.Phe1015fs	coding	Pathogenic
9	95458249	G	GTCTAC	G95458250T	PTCH1	NM_000264.5(PTCH1):c.2931_2932insGTAGA:p.Leu978fs	coding	Pathogenic
9	95459618	GCATGTAGTC	ACTA	G95459618A	PTCH1	NM_000264.5(PTCH1):c.2860_2869delinsTAGT:p.Asp954_Pro957delinsTer	coding	Pathogenic
9	95459637	GTGGACCCA	G	G95459639T	PTCH1	NM_000264.5(PTCH1):c.2842_2849del:p.Trp948fs	coding	Pathogenic
9	95459687	AC	A	C95459688G	PTCH1	NM_000264.5(PTCH1):c.2799del:p.Tyr934fs	coding	Pathogenic
9	95459692	AC	A	C95459693G	PTCH1	NM_000264.5(PTCH1):c.2794del:p.Val932fs	coding	Pathogenic
9	95459721	G	GTAGA	G95459727A	PTCH1	NM_000264.5(PTCH1):c.2762_2765dup:p.Thr924fs	coding	Pathogenic
9	95459762	CCA	C	A95459764C	PTCH1	NM_000264.5(PTCH1):c.2723_2724del:p.Val908fs	coding	Pathogenic
9	95459774	G	GT	A95459778T	PTCH1	NM_000264.5(PTCH1):c.2712dup:p.Gln905fs	coding	Pathogenic
9	95461919	TC	T	C95461921A	PTCH1	NM_000264.5(PTCH1):c.2639del:p.Gly880fs	coding	Pathogenic
9	95461960	TC	T	C95461963G	PTCH1	NM_000264.5(PTCH1):c.2598del:p.Ile868fs	coding	Pathogenic
9	95467134	AGTA	CT	A95467134C	PTCH1	NM_000264.5(PTCH1):c.2539_2542delinsAG:p.Tyr847fs	coding	Pathogenic
9	95467159	CTGTT	C	G95467165T	PTCH1	NM_000264.5(PTCH1):c.2509_2512AACA[1]:p.Lys838fs	coding	Pathogenic
9	95467329	GA	G	A95467330G	PTCH1	NM_000264.5(PTCH1):c.2346del:p.Arg783fs	coding	Pathogenic
9	95467333	T	TA	C95467335A	PTCH1	NM_000264.5(PTCH1):c.2342dup:p.Pro782fs	coding	Pathogenic
9	95467388	A	AC	A95467394C	PTCH1	NM_000264.5(PTCH1):c.2287dup:p.Val763fs	coding	Pathogenic
9	95467416	TCACC	T	C95467417A	PTCH1	NM_000264.5(PTCH1):c.2256_2259del:p.Val753fs	coding	Pathogenic
9	95468756	CT	C	T95468760G	PTCH1	NM_000264.5(PTCH1):c.2244del:p.Ala749fs	coding	Pathogenic
9	95468802	TGA	T	A95468806T	PTCH1	NM_000264.5(PTCH1):c.2195_2196TC[1]:p.Ser733fs	coding	Pathogenic
9	95468821	CA	C	A95468822G	PTCH1;LOC100507346	NM_000264.5(PTCH1):c.2179del:p.Cys727fs	coding	Pathogenic
9	95468837	AG	A	G95468838T	PTCH1	NM_000264.5(PTCH1):c.2163del:p.Cys722fs	coding	Pathogenic
9	95468852	C	CG	A95468855G	PTCH1	NM_000264.5(PTCH1):c.2148dup:p.Asp717fs	coding	Pathogenic
9	95468865	G	GA	G95468867A	PTCH1	NM_000264.5(PTCH1):c.2135dup:p.Ser713fs	coding	Pathogenic
9	95468894	CTG	C	T95468895G	PTCH1	NM_000264.5(PTCH1):c.2105_2106del:p.Pro702fs	coding	Pathogenic
9	95468927	CGG	C	G95468928T	PTCH1	NM_000264.5(PTCH1):c.2072_2073del:p.Thr691fs	coding	Pathogenic
9	95468989	T	TGG	T95468995G	PTCH1	NM_000264.5(PTCH1):c.2010_2011dup:p.His671fs	coding	Pathogenic
9	95468989	T	TG	T95468995G	PTCH1	NM_000264.5(PTCH1):c.2011dup:p.His671fs	coding	Pathogenic
9	95469098	CG	C	G95469099T	PTCH1	NM_000264.5(PTCH1):c.1902del:p.His634fs	coding	Pathogenic
9	95469098	CGTGTGTGTCG	C	G95469103A	PTCH1	NM_000264.5(PTCH1):c.1893_1902del:p.Asp632fs	coding	Pathogenic
9	95469115	GC	G	C95469117T	PTCH1	NM_000264.5(PTCH1):c.1885del:p.Ala629fs	coding	Pathogenic
9	95469817	TA	T	A95469821C	PTCH1	NM_000264.5(PTCH1):c.1842del:p.Phe614fs	coding	Pathogenic
9	95469895	GA	G	A95469897C	PTCH1	NM_000264.5(PTCH1):c.1764del:p.Leu589fs	coding	Pathogenic
9	95469903	GCA	CC	G95469903C	PTCH1	NM_000264.5(PTCH1):c.1755_1757delinsGG:p.Phe585fs	coding	Pathogenic
9	95476040	GGAGAACGCCCGCA	G	A95476044C	PTCH1	NM_000264.5(PTCH1):c.1709_1721del:p.Leu570fs	coding	Pathogenic
9	95476057	CG	C	G95476060A	PTCH1	NM_000264.5(PTCH1):c.1704del:p.Ala569fs	coding	Pathogenic
9	95476110	G	GT	G95476112T	PTCH1	NM_000264.5(PTCH1):c.1651dup:p.Thr551fs	coding	Pathogenic
9	95476136	C	CT	C95476139T	PTCH1	NM_000264.5(PTCH1):c.1625dup:p.Arg543fs	coding	Pathogenic
9	95476146	TC	T	C95476150G	PTCH1	NM_000264.5(PTCH1):c.1615del:p.Glu539fs	coding	Pathogenic
9	95476146	T	TC	G95476151C	PTCH1	NM_000264.5(PTCH1):c.1615dup:p.Glu539fs	coding	Pathogenic
9	95476759	CTCAAAAGGGAT	C	A95476762T	PTCH1	NM_000264.5(PTCH1):c.1591_1601del:p.Ile531fs	coding	Pathogenic
9	95476777	A	AT	C95476780T	PTCH1	NM_000264.5(PTCH1):c.1583dup:p.Asn528fs	coding	Pathogenic
9	95477564	TA	T	A95477567G	PTCH1	NM_000264.5(PTCH1):c.1485del:p.Phe495fs	coding	Pathogenic
9	95477626	AGGACGCCAGCCAGCCCCAC	A	A95477629C	PTCH1	NM_000264.5(PTCH1):c.1405_1423del:p.Val469fs	coding	Pathogenic
9	95477630	CGCCA	C	A95477638C	PTCH1	NM_000264.5(PTCH1):c.1412_1415TGGC[1]:p.Gly473fs	coding	Pathogenic
9	95477679	CATGGTTAGACAGGCATAGGCGAGCTGCAAGCAGAACA	C	T95477684G	PTCH1	NM_000264.5(PTCH1):c.1348-14_1370del	coding	Pathogenic
9	95477685	T	TA	G95477687A	PTCH1	NM_000264.5(PTCH1):c.1364dup:p.Thr456fs	coding	Pathogenic
9	95477693	C	CATAG	G95477698A	PTCH1	NM_000264.5(PTCH1):c.1353_1356dup:p.Ala453fs	coding	Pathogenic
9	95477699	CG	C	G95477700A	PTCH1	NM_000264.5(PTCH1):c.1350del:p.Ala451fs	coding	Pathogenic
9	95478056	ATGAG	A	G95478058A	PTCH1	NM_000264.5(PTCH1):c.1342_1345del:p.Leu448fs	coding	Pathogenic
9	95478060	G	GT	A95478062T	PTCH1	NM_000264.5(PTCH1):c.1341dup:p.Leu448fs	coding	Pathogenic
9	95478067	GC	G	C95478069G	PTCH1	NM_000264.5(PTCH1):c.1334del:p.Gly445fs	coding	Pathogenic
9	95478069	C	CTT	G95478070T	PTCH1	NM_000264.5(PTCH1):c.1332_1333insAA:p.Gly445fs	coding	Pathogenic
9	95478072	TG	T	G95478074C	PTCH1	NM_000264.5(PTCH1):c.1329del:p.Ser444fs	coding	Pathogenic
9	95478093	CG	C	G95478094T	PTCH1	NM_000264.5(PTCH1):c.1308del:p.Asp436fs	coding	Pathogenic
9	95478094	G	GT	C95478096T	PTCH1	NM_000264.5(PTCH1):c.1307dup:p.Asp436fs	coding	Pathogenic
9	95479005	CAT	C	A95479008G	PTCH1	NM_000264.5(PTCH1):c.1206_1207AT[1]:p.Tyr403fs	coding	Pathogenic
9	95479017	GCCAGGCCT	G	C95479023A	PTCH1	NM_000264.5(PTCH1):c.1190_1197del:p.Glu397fs	coding	Pathogenic
9	95479027	C	CAGGAT	G95479033A	PTCH1	NM_000264.5(PTCH1):c.1183_1187dup:p.Glu397fs	coding	Pathogenic
9	95479059	TG	T	G95479060A	PTCH1	NM_000264.5(PTCH1):c.1155del:p.Asn386fs	coding	Pathogenic
9	95479063	GT	G	T95479064G	PTCH1	NM_000264.5(PTCH1):c.1151del:p.His384fs	coding	Pathogenic
9	95479079	T	TA	C95479081A	PTCH1	NM_000264.5(PTCH1):c.1135dup:p.Tyr379fs	coding	Pathogenic
9	95479086	TG	T	G95479087A	PTCH1	NM_000264.5(PTCH1):c.1128del:p.Phe376fs	coding	Pathogenic
9	95479095	CG	C	G95479096T	PTCH1	NM_000264.5(PTCH1):c.1119del:p.Met372_Tyr373insTer	coding	Pathogenic
9	95479128	T	TG	T95479131G	PTCH1	NM_000264.5(PTCH1):c.1086dup:p.Met363fs	coding	Pathogenic
9	95480025	CCAGTGCATAT	C	C95480026A	PTCH1	NM_000264.5(PTCH1):c.1001_1010del:p.Tyr334fs	coding	Pathogenic
9	95480059	CCACCATT	C	C95480062A	PTCH1	NM_000264.5(PTCH1):c.970_976del:p.Asn324fs	coding	Pathogenic
9	95480074	AG	A	G95480077C	PTCH1	NM_000264.5(PTCH1):c.961del:p.Val322fs	coding	Pathogenic
9	95480079	CAT	C	A95480082C	PTCH1	NM_000264.5(PTCH1):c.955_956del:p.Met319fs	coding	Pathogenic
9	95480413	C	CT	G95480415T	PTCH1	NM_000264.5(PTCH1):c.921dup:p.Ala308fs	coding	Pathogenic
9	95480447	GCAGGGGCGGTC	G	G95480450T	PTCH1	NM_000264.5(PTCH1):c.877_887del:p.Asp293fs	coding	Pathogenic
9	95480448	CA	C	A95480449G	PTCH1	NM_000264.5(PTCH1):c.886del:p.Cys296fs	coding	Pathogenic
9	95480461	TG	T	G95480462T	PTCH1	NM_000264.5(PTCH1):c.873del:p.Gly290_Tyr291insTer	coding	Pathogenic
9	95480512	CT	C	T95480514G	PTCH1	NM_000264.5(PTCH1):c.822del:p.Val275fs	coding	Pathogenic
9	95480515	GATA	ATC	G95480515A	PTCH1	NM_000264.5(PTCH1):c.817_820delinsGAT:p.Tyr273fs	coding	Pathogenic
9	95480524	TTTTC	T	C95480528A	PTCH1	NM_000264.5(PTCH1):c.807_810del:p.Lys269_Lys270insTer	coding	Pathogenic
9	95480566	TC	T	C95480568A	PTCH1	NM_000264.5(PTCH1):c.768del:p.Arg255_Trp256insTer	coding	Pathogenic
9	95481979	G	GC	T95481984C	PTCH1	NM_000264.5(PTCH1):c.715dup:p.Ala239fs	coding	Pathogenic
9	95482010	TAATC	T	T95482013A	PTCH1	NM_000264.5(PTCH1):c.681_684del:p.Ile228fs	coding	Pathogenic
9	95482028	GAT	G	A95482031T	PTCH1	NM_000264.5(PTCH1):c.663_664AT[1]:p.Tyr222fs	coding	Pathogenic
9	95482135	T	TG	A95482137G	PTCH1	NM_000264.5(PTCH1):c.652dup:p.Gln218fs	coding	Pathogenic
9	95482160	TA	T	A95482162G	PTCH1	NM_000264.5(PTCH1):c.627del:p.Ile210fs	coding	Pathogenic
9	95482172	AT	A	T95482175G	PTCH1	NM_000264.5(PTCH1):c.615del:p.Lys205fs	coding	Pathogenic
9	95482181	AC	A	C95482182A	PTCH1	NM_000264.5(PTCH1):c.606del:p.Leu202fs	coding	Pathogenic
9	95482185	AT	A	T95482186G	PTCH1	NM_000264.5(PTCH1):c.602del:p.His201fs	coding	Pathogenic
9	95485777	TTCTTTAGGGG	T	T95485781G	PTCH1	NM_000264.5(PTCH1):c.482_491del:p.Thr161fs	coding	Pathogenic
9	95485779	C	CTA	T95485781A	PTCH1	NM_000264.5(PTCH1):c.489_490insTA:p.Glu164Ter	coding	Pathogenic
9	95485804	AGGATTAAACATAG	A	G95485805C	PTCH1	NM_000264.5(PTCH1):c.452_464del:p.Ala151fs	coding	Pathogenic
9	95485813	CAT	C	T95485815G	PTCH1	NM_000264.5(PTCH1):c.454_455del:p.Met152fs	coding	Pathogenic
9	95485861	T	TA	C95485863A	PTCH1	NM_000264.5(PTCH1):c.407dup:p.Ser137fs	coding	Pathogenic
9	95486149	G	GA	C95486150A	PTCH1	NM_000264.5(PTCH1):c.395-276_395-275insT	noncoding	Benign
9	95506413	CCCACAGCTCCTCCACGT	C	C95506414T	PTCH1	NM_000264.5(PTCH1):c.371_387del:p.Asn124fs	coding	Pathogenic
9	95506496	AAGAACTTGCCGCAGTTTTTTTGAATGTAACAACCC	A	A95506499T	PTCH1	NM_000264.5(PTCH1):c.270_304del:p.Tyr93fs	coding	Pathogenic
9	95506504	GC	G	C95506506G	PTCH1	NM_000264.5(PTCH1):c.296del:p.Gly99fs	coding	Pathogenic
9	95506510	G	GT	G95506518T	PTCH1	NM_000264.5(PTCH1):c.290dup:p.Asn97fs	coding	Pathogenic
9	95506510	GT	G	T95506517G	PTCH1	NM_000264.5(PTCH1):c.290del:p.Asn97fs	coding	Pathogenic
9	95506510	GTT	G	T95506516G	PTCH1	NM_000264.5(PTCH1):c.289_290del:p.Asn97fs	coding	Pathogenic
9	95506521	TG	T	G95506522T	PTCH1	NM_000264.5(PTCH1):c.279del:p.Cys92_Tyr93insTer	coding	Pathogenic
9	95506522	G	GT	A95506524T	PTCH1	NM_000264.5(PTCH1):c.278dup:p.Tyr93Ter	coding	Pathogenic
9	95506540	TAA	T	A95506541G	PTCH1	NM_000264.5(PTCH1):c.259_260del:p.Leu87fs	coding	Pathogenic
9	95506541	AAG	A	A95506544T	PTCH1	NM_000264.5(PTCH1):c.256_257CT[1]:p.Leu87fs	coding	Pathogenic
9	95506542	AGAGTCTCT	A	G95506545A	PTCH1	NM_000264.5(PTCH1):c.251_258del:p.Gln84fs	coding	Pathogenic
9	95506545	GTC	G	C95506549G	PTCH1	NM_000264.5(PTCH1):c.252_253GA[1]:p.Arg85fs	coding	Pathogenic
9	95506549	CTG	C	T95506550A	PTCH1	NM_000264.5(PTCH1):c.250_251del:p.Gln84fs	coding	Pathogenic
9	95506573	CGGCGCTTTCCGGCCAGTAGCCTTCCCCTGGGGACGAAGCAGA	C	G95506574A	PTCH1	NM_000264.5(PTCH1):c.202-16_227del	coding	Pathogenic
9	95506656	A	ACGCCCGCTTGCGCGCACC	G95506681C	PTCH1	NM_000264.5(PTCH1):c.202-75_202-58dup	noncoding	Benign
9	95508247	GC	G	C95508254G	PTCH1	NM_000264.5(PTCH1):c.114del:p.Leu39fs	coding	Pathogenic/Likely_pathogenic
9	95508364	TGCCGCCGCCGCC	T	C95508376G	PTCH1	NM_000264.5(PTCH1):c.-24_-22GGC[3]	coding	Benign/Likely_benign
9	95508364	TGCCGCCGCC	T	C95508379G	PTCH1	NM_000264.5(PTCH1):c.-24_-22GGC[4]	coding	Benign/Likely_benign
9	95508364	TGCCGCC	T	C95508382G	PTCH1	NM_000264.5(PTCH1):c.-24_-22GGC[5]	coding	Benign/Likely_benign
9	95508364	TGCC	T	C95508385G	PTCH1	NM_000264.5(PTCH1):c.-24_-22GGC[6]	coding	Benign/Likely_benign
9	95508364	T	TGCC	G95508388C	PTCH1	NM_000264.5(PTCH1):c.-24_-22GGC[8]	coding	Benign
9	95921216	TCAAA	T	A95921219G	ERCC6L2	NM_020207.5(ERCC6L2):c.1236_1239del:p.Thr413fs	coding	Pathogenic
9	96301920	C	CA	C96301928A	HSD17B3	NM_000197.2(HSD17B3):c.154+24dup	noncoding	Benign
9	96301982	CTT	C	T96301984G	HSD17B3	NM_000197.2(HSD17B3):c.121_122del:p.Lys41fs	coding	Pathogenic
9	97431049	G	GA	C97431054A	TDRD7	NM_014290.3(TDRD7):c.328dup:p.Thr110fs	coding	Pathogenic
9	97441708	T	TA	C97441710A	TDRD7	NM_014290.3(TDRD7):c.689dup:p.Tyr230Ter	coding	Pathogenic
9	97460450	TG	T	G97460451C	TDRD7	NM_014290.3(TDRD7):c.1129del:p.Ala377fs	coding	Pathogenic
9	97675475	AGTACAAGTCTTACG	A	A97675481T	XPA	NM_000380.3(XPA):c.772_785del:p.Arg258fs	coding	Pathogenic/Likely_pathogenic
9	97684928	AC	A	C97684929T	XPA	NM_000380.4(XPA):c.667del:p.Lys222_Val223insTer	coding	Pathogenic
9	97684929	C	CT	A97684936T	XPA	NM_000380.3(XPA):c.666dup:p.Val223fs	coding	Pathogenic/Likely_pathogenic
9	97687105	T	TTA	A97687106T	XPA	NM_000380.3(XPA):c.545_546insTA:p.Leu182fs	coding	Pathogenic
9	97689548	AG	A	G97689549T	XPA	NM_000380.3(XPA):c.374del:p.Thr125fs	coding	Pathogenic
9	97689554	CA	C	A97689557T	XPA	NM_000380.4(XPA):c.368del:p.Leu123fs	coding	Pathogenic
9	97689569	CATAAG	C	T97689576A	XPA	NM_001354975.1(XPA):c.218_222CTTAT[1]:p.Leu75fs	coding	Pathogenic
9	97689582	T	TCCATAAATTCTTTC	C97689600T	XPA	NM_000380.3(XPA):c.327_340dup:p.Asp114fs	coding	Pathogenic
9	97689585	ATAA	TTTCTTATG	A97689585T	XPA	NM_000380.3(XPA):c.335_338delinsCATAAGAAA:p.Phe112_Met113delinsSerTer	coding	Pathogenic
9	97689613	TTACA	T	C97689616A	XPA	NM_000380.4(XPA):c.306_309del:p.Asp101_Tyr102insTer	coding	Pathogenic
9	97693664	C	CTT	C97693669T	XPA	NM_000380.3(XPA):c.266_267dup:p.Val90fs	coding	Pathogenic
9	97697282	GC	G	C97697284G	XPA	NM_001354975.1(XPA):c.-1140del	coding	Pathogenic/Likely_pathogenic
9	97854418	AGCCGCC	A	G97854446A	FOXE1	NM_004473.4(FOXE1):c.505_507GCC[9]:p.Ala178_Ala179del	coding	Benign
9	97854424	C	CGCTGCCGCA	C97854427T	FOXE1	NM_004473.4(FOXE1):c.512_513insTGCCGCAGC:p.Ala177_Ala179dup	coding	Benign
9	98076953	A	AT	C98076959T	NANS	NM_018946.4(NANS):c.389dup:p.Lys131fs	coding	Pathogenic
9	98078183	GATTAC	ATGG	G98078183A	NANS	NM_018946.4(NANS):c.449-10_449-5delinsATGG	noncoding	Pathogenic
9	98078183	GATTAC	G	A98078184T	TRIM14;NANS	NM_018946.4(NANS):c.449-9_449-5del	noncoding	Pathogenic
9	98082952	A	ACAT	T98082957A	NANS	NM_018946.4(NANS):c.979_981dup:p.Ile327dup	coding	Pathogenic
9	98751050	CTGA	C	G98751052A	ANKS6	NM_173551.5(ANKS6):c.2370_2372del:p.Tyr790_Gln791delinsTer	coding	Pathogenic
9	98768158	GGCTTGACCGAT	G	C98768160G	ANKS6	NM_173551.5(ANKS6):c.2054_2064del:p.His685fs	coding	Pathogenic
9	98780255	CA	C	A98780256G	ANKS6	NM_173551.5(ANKS6):c.1301del:p.Leu434fs	coding	Pathogenic
9	98790247	A	ACTCCAAGCCGCCCAGTGAGTGCGGC	A98790274T	ANKS6	NM_173551.5(ANKS6):c.694_718dup:p.Val240fs	coding	Pathogenic
9	98790425	CCA	C	C98790426G	ANKS6	NM_173551.5(ANKS6):c.539_540del:p.Leu180fs	coding	Pathogenic
9	99105155	GGC	G	G99105156A	TGFBR1	NM_004612.4(TGFBR1):c.-50_-49del	noncoding	Benign
9	99105254	CTGGCGGCGG	C	T99105255C	TGFBR1	NM_004612.4(TGFBR1):c.50_58del:p.Leu17_Ala20delinsPro	coding	Benign
9	99105255	TGGCGGCGGC	T	G99105275C	TGFBR1	NM_004612.4(TGFBR1):c.52_54GCG[6]:p.Ala24_Ala26del	coding	Benign/Likely_benign
9	99105255	TGGCGGC	T	G99105278C	TGFBR1	NM_004612.4(TGFBR1):c.52_54GCG[7]:p.Ala25_Ala26del	coding	Benign/Likely_benign
9	99105255	TGGC	T	G99105281C	TGFBR1	NM_004612.4(TGFBR1):c.52_54GCG[8]:p.Ala26del	coding	Benign/Likely_benign
9	99137845	A	AT	A99137851T	TGFBR1	NM_004612.4(TGFBR1):c.575-9dup	noncoding	Benign/Likely_benign
9	99137916	T	TTGG	C99137920T	TGFBR1	NM_004612.4(TGFBR1):c.633_635dup:p.Gly212dup	coding	Pathogenic
9	99137961	GAGA	G	A99137967T	TGFBR1	NM_004612.4(TGFBR1):c.680_682AAG[1]:p.Glu228del	coding	Pathogenic
9	99142561	G	GT	G99142564T	TGFBR1	NM_004612.4(TGFBR1):c.833dup:p.Leu278fs	coding	Pathogenic
9	99147699	C	CTG	A99147702T	TGFBR1	NM_004612.4(TGFBR1):c.1302_1303dup:p.Asp435fs	coding	Pathogenic
9	99149154	AT	A	T99149165A	TGFBR1	NM_004612.4(TGFBR1):c.1387-15del	noncoding	Benign
9	99149165	T	TA	T99149167A	TGFBR1	NM_004612.4(TGFBR1):c.1387-14dup	noncoding	Benign
9	99149242	TACAGCATTGCGGATTAAGAAA	T	G99149246T	TGFBR1	NM_004612.4(TGFBR1):c.1453_1473del:p.Ala485_Thr491del	coding	Pathogenic
9	99151408	T	TG	T99151409G	TGFBR1	NM_004612.4(TGFBR1):c.*2103_*2104insG	noncoding	Benign
9	99221671	AGCCAGTCCCC	CGGGGACT	A99221671C	ALG2	NM_033087.4(ALG2):c.214_224delinsAGTCCCCG:p.Gly72_Leu75delinsSerProArg	coding	Pathogenic
9	100126450	T	TGACA	T100126457C	INVS	NM_014425.5(INVS):c.177_180dup:p.Leu61fs	coding	Pathogenic
9	100226046	CTT	C	T100226047G	INVS	NM_014425.5(INVS):c.274-15_274-14del	noncoding	Benign
9	100240103	A	AG	T100240107G	INVS	NM_014425.5(INVS):c.662dup:p.Arg222fs	coding	Pathogenic
9	100240114	CCT	C	C100240117T	INVS	NM_014425.5(INVS):c.671_672CT[1]:p.Leu225fs	coding	Pathogenic
9	100253087	TG	T	G100253089C	INVS	NM_014425.5(INVS):c.1417del:p.Ala473fs	coding	Pathogenic
9	100253124	TC	T	C100253125A	INVS	NM_014425.5(INVS):c.1453del:p.Gln485fs	coding	Pathogenic
9	100292353	AAT	A	A100292354C	INVS	NM_014425.5(INVS):c.2097_2098del:p.Gln699fs	coding	Pathogenic
9	100300599	GA	G	A100300601C	INVS	NM_014425.5(INVS):c.3125del:p.Asn1042fs	coding	Pathogenic
9	101424974	AAAG	A	A101424975G	ALDOB	NM_000035.4(ALDOB):c.865_867del:p.Leu289del	coding	Pathogenic
9	101424976	AG	A	G101424978T	ALDOB	NM_000035.4(ALDOB):c.865del:p.Leu289fs	coding	Pathogenic
9	101425578	TC	T	C101425580A	ALDOB	NM_000035.4(ALDOB):c.673del:p.Glu225fs	coding	Pathogenic
9	101426625	GGTACCA	G	A101426628C	ALDOB	NM_000035.4(ALDOB):c.548_553del:p.Leu183_Val184del	coding	Pathogenic
9	101428484	CTTTG	C	T101428491C	ALDOB	NM_000035.4(ALDOB):c.356_359CAAA[1]:p.Asn120fs	coding	Pathogenic/Likely_pathogenic
9	101429776	CT	C	T101429780C	ALDOB	NM_000035.4(ALDOB):c.302del:p.Lys101fs	coding	Pathogenic
9	101429963	GTACC	G	C101429966T	ALDOB	NM_000035.4(ALDOB):c.113-1_115del	coding	Pathogenic/Likely_pathogenic
9	101430844	TC	T	C101430846T	ALDOB	NM_000035.4(ALDOB):c.43del:p.Glu15fs	coding	Pathogenic
9	104782848	TA	T	A104782865G	ABCA1	NM_005502.4(ABCA1):c.*1466del	noncoding	Benign
9	104783993	CA	C	A104784009G	ABCA1	NM_005502.4(ABCA1):c.*321del	noncoding	Benign
9	104794512	TAA	T	A104794529T	ABCA1	NM_005502.4(ABCA1):c.5383-4_5383-3del	noncoding	Benign
9	104794512	TA	T	A104794530T	ABCA1	NM_005502.4(ABCA1):c.5383-3del	noncoding	Benign
9	104794512	T	TAAAAAA	T104794531A	ABCA1	NM_005502.4(ABCA1):c.5383-20_5383-15dup	noncoding	Benign
9	104794512	T	TAAA	T104794531A	ABCA1	NM_005502.4(ABCA1):c.5383-20_5383-18dup	noncoding	Benign
9	104794512	T	TAA	T104794531A	ABCA1	NM_005502.4(ABCA1):c.5383-20_5383-19dup	noncoding	Benign
9	104814166	ACGGG	A	G104814169A	ABCA1	NM_005502.4(ABCA1):c.3849_3852del:p.Pro1284fs	coding	Pathogenic
9	104818780	GGA	G	A104818782G	ABCA1	NM_005502.4(ABCA1):c.3343_3344del:p.Ser1115fs	coding	Pathogenic
9	104822598	CG	C	G104822600T	ABCA1	NM_005502.4(ABCA1):c.2725del:p.Arg909fs	coding	Pathogenic
9	104828948	CAAG	C	A104828953G	ABCA1	NM_005502.4(ABCA1):c.2077_2079CTT[1]:p.Leu694del	coding	Pathogenic
9	104830992	TC	T	C104830993A	ABCA1	NM_005502.4(ABCA1):c.1824del:p.Thr609fs	coding	Pathogenic
9	104831740	AGAACTTCCTCTCA	GTACAGTGGCGTGACCTCAGCTCACTGCAACCTCTGCCTCCTGAGTTCAAGTGATTCTCGTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGCTCCTGCCACCACGCCCG	A104831740G	ABCA1	NM_005502.4(ABCA1):c.1584_1597delinsCGGGCGTGGTGGCAGGAGCTGTAATCCCAGCTACTTGGGAGGCTGAGGCACGAGAATCACTTGAACTCAGGAGGCAGAGGTTGCAGTGAGCTGAGGTCACGCCACTGTAC:p.Glu529_Trp533delinsGlyArgGlyGlyArgSerCysAsnProSerTyrLeuGlyGlyTer	coding	Pathogenic
9	104840532	A	AT	G104840534T	ABCA1	NM_005502.4(ABCA1):c.814-14dup	noncoding	Benign
9	104883161	T	TAAAGGGTGCAAGAAAAGGCGAAAGGCTTTAGCTAGGCC	C104883202A	ABCA1	NM_005502.4(ABCA1):c.303-42_303-5dup	noncoding	Benign
9	104903754	G	GC	G104903757C	ABCA1	NM_005502.4(ABCA1):c.-76dup	noncoding	Benign
9	105335666	CTGAG	C	G105335670T	SLC44A1	NM_080546.5(SLC44A1):c.377_380del:p.Ser126fs	coding	Pathogenic
9	105374650	AG	A	G105374652A	SLC44A1	NM_080546.5(SLC44A1):c.1549del:p.Asp517fs	coding	Pathogenic
9	105558154	CT	C	T105558155G	FKTN	NM_001079802.2(FKTN):c.-191del	noncoding	Benign
9	105575073	CG	C	G105575074C	FKTN	NM_001079802.2(FKTN):c.42del:p.Thr14_Leu15insTer	coding	Pathogenic/Likely_pathogenic
9	105601164	TTA	T	A105601166G	FKTN	NM_001079802.2(FKTN):c.187_188del:p.Met63fs	coding	Pathogenic
9	105601306	C	CT	A105601310T	FKTN	NM_001079802.2(FKTN):c.330dup:p.Thr111fs	coding	Pathogenic
9	105601306	CTT	C	T105601308A	FKTN	NM_001079802.2(FKTN):c.329_330del:p.Phe110fs	coding	Pathogenic
9	105604247	A	ATGCCTAAATC	T105604249G	FKTN	NM_001079802.2(FKTN):c.403_404insGCCTAAATCT:p.Phe135fs	coding	Pathogenic
9	105604276	AT	A	T105604277C	FKTN	NM_006731.2(FKTN):c.432del:p.Arg146fs	coding	Pathogenic
9	105604298	C	CT	C105604300T	FKTN	NM_001079802.2(FKTN):c.454dup:p.Ser152fs	coding	Pathogenic
9	105604299	TCA	T	A105604301T	FKTN	NM_001079802.2(FKTN):c.456_457del:p.Ser154fs	coding	Pathogenic
9	105604483	C	CT	G105604488T	FKTN	NM_001079802.2(FKTN):c.642dup:p.Asp215Ter	coding	Pathogenic/Likely_pathogenic
9	105607827	T	TA	C105607829A	FKTN	NM_001079802.1(FKTN):c.657dup:p.Gln220Thrfs	coding	Pathogenic
9	105619987	TG	T	G105619988T	FKTN	NM_001079802.2(FKTN):c.1099del:p.Val367fs	coding	Pathogenic/Likely_pathogenic
9	105619988	GT	G	T105619995C	FKTN	NM_001079802.2(FKTN):c.1106del:p.Phe369fs	coding	Pathogenic/Likely_pathogenic
9	105620049	G	GA	T105620057A	FKTN	NM_001079802.2(FKTN):c.1167dup:p.Phe390fs	coding	Pathogenic
9	105620055	A	AAT	T105620058A	FKTN	NM_001079802.2(FKTN):c.1167_1168dup:p.Phe390fs	coding	Pathogenic
9	105635238	TG	T	G105635241A	FKTN	NM_001079802.2(FKTN):c.1363del:p.Asp455fs	coding	Pathogenic
9	106924739	TCAGA	T	A106924743C	ZNF462	NM_021224.6(ZNF462):c.831_834del:p.Arg277fs	coding	Pathogenic
9	106924789	G	GC	A106924795C	ZNF462	NM_021224.6(ZNF462):c.882dup:p.Ser295fs	coding	Pathogenic
9	106925146	T	TAA	C106925147A	ZNF462	NM_021224.6(ZNF462):c.1234_1235insAA:p.Ser412Ter	coding	Pathogenic
9	106925462	TG	T	G106925464T	ZNF462	NM_021224.6(ZNF462):c.1552del:p.Val518fs	coding	Pathogenic
9	106925679	GCCAC	G	C106925684A	ZNF462	NM_021224.6(ZNF462):c.1768_1771CCAC[1]:p.Pro591fs	coding	Pathogenic
9	106926453	CT	C	T106926454G	ZNF462	NM_021224.6(ZNF462):c.2542del:p.Cys848fs	coding	Pathogenic
9	106926891	TG	A	T106926891A	ZNF462	NM_021224.6(ZNF462):c.2979_2980delinsA:p.Val994fs	coding	Pathogenic
9	106928173	GA	G	A106928175G	ZNF462	NM_021224.6(ZNF462):c.4263del:p.Glu1422fs	coding	Pathogenic
9	106929056	AC	A	C106929057T	ZNF462	NM_021224.6(ZNF462):c.5145del:p.Tyr1716fs	coding	Pathogenic
9	106932499	GGACAA	G	A106932501T	ZNF462	NM_021224.6(ZNF462):c.6068_6072del:p.Asp2023fs	coding	Pathogenic
9	106935596	AAC	A	C106935600T	ZNF462	NM_021224.6(ZNF462):c.6214_6215del:p.His2072fs	coding	Pathogenic
9	108878015	GGTAA	G	T108878021A	ELP1	NM_003640.5(ELP1):c.3831_3834del:p.Tyr1278fs	coding	Pathogenic
9	108878679	T	TC	T108878682C	ELP1	NM_003640.5(ELP1):c.3643dup:p.Asp1215fs	coding	Pathogenic/Likely_pathogenic
9	108897149	T	TA	T108897151A	ELP1	NM_003640.5(ELP1):c.2499dup:p.Lys834Ter	coding	Pathogenic/Likely_pathogenic
9	108900354	CT	C	T108900355G	ELP1	NM_003640.5(ELP1):c.2035del:p.Ser679fs	coding	Pathogenic
9	108912298	TG	T	G108912299A	ELP1	NM_003640.5(ELP1):c.1154del:p.Asn384_Ser385insTer	coding	Pathogenic/Likely_pathogenic
9	108917684	C	CA	G108917686A	ELP1	NM_003640.5(ELP1):c.741-15dup	noncoding	Benign/Likely_benign
9	108917758	C	CATGA	C108917776T	ELP1	NM_003640.5(ELP1):c.741-104TCAT[5]	noncoding	Benign
9	108918872	CTCGGT	C	G108918875C	ELP1	NM_003640.5(ELP1):c.674_678del:p.Asn225fs	coding	Pathogenic
9	108919260	TG	T	G108919263C	ELP1	NM_003640.5(ELP1):c.641del:p.Pro214fs	coding	Pathogenic/Likely_pathogenic
9	108922887	CTG	C	G108922891C	ELP1	NM_003640.5(ELP1):c.505_506del:p.Gln169fs	coding	Pathogenic
9	108922919	T	TA	C108922923A	ELP1	NM_003640.5(ELP1):c.474dup:p.Ile159fs	coding	Pathogenic
9	108927405	T	TCCAA	T108927411C	ELP1	NM_003640.5(ELP1):c.348_351dup:p.Ser118fs	coding	Pathogenic
9	108927407	CA	C	A108927409C	ELP1	NM_003640.5(ELP1):c.349del:p.Trp117fs	coding	Pathogenic
9	108972840	ATG	A	T108972849G	CTNNAL1	NM_003798.4(CTNNAL1):c.1189-17CA[4]	noncoding	Benign
9	109141465	ACTC	A	C109141468T	FRRS1L	NM_014334.3(FRRS1L):c.737_739del:p.Gly246del	coding	Pathogenic/Likely_pathogenic
9	109141483	GC	G	C109141484A	FRRS1L	NM_014334.4(FRRS1L):c.568del:p.Ala190fs	coding	Pathogenic
9	109147081	TA	T	A109147082C	FRRS1L	NM_014334.4(FRRS1L):c.431del:p.Val144fs	coding	Pathogenic
9	109149657	CCA	C	C109149660G	FRRS1L	NM_014334.3(FRRS1L):c.451_452TG[1]:p.Cys151fs	coding	Pathogenic
9	109149675	A	AT	G109149680T	FRRS1L	NM_014334.3(FRRS1L):c.436dup:p.Ile146fs	coding	Pathogenic
9	109166993	TC	T	C109166999G	FRRS1L	NM_014334.3(FRRS1L):c.298del:p.Asp100fs	coding	Pathogenic
9	109167140	CG	GC	C109167140G	FRRS1L	NM_014334.3(FRRS1L):c.151_152delinsGC:p.Arg51Ala	coding	Benign
9	110048735	TCCCCCGGAGTCTCCTGGA	T	T110048763C	PALM2AKAP2	NM_007203.5(PALM2AKAP2):c.582+32724_582+32741del	coding	Benign
9	110668943	T	TA	C110668945A	MUSK	NM_005592.4(MUSK):c.40dup:p.Thr14fs	coding	Pathogenic
9	110687127	A	AC	G110687131C	MUSK	NM_005592.4(MUSK):c.220dup:p.Arg74fs	coding	Pathogenic
9	110762231	AT	A	T110762233G	MUSK	NM_005592.4(MUSK):c.920+25del	noncoding	Benign
9	110785565	AG	A	G110785566C	MUSK	NM_005592.4(MUSK):c.1626del:p.Glu542fs	coding	Pathogenic
9	113275629	TTGTCAGTGACGCACTTCC	T	T113275648C	PRPF4	NM_004697.4(PRPF4):c.-114_-97del	noncoding	Pathogenic
9	114156007	CG	C	G114156013T	COL27A1	NM_032888.4(COL27A1):c.62+1del	coding	Pathogenic
9	114162744	CG	C	G114162745T	COL27A1	NM_032888.4(COL27A1):c.93del:p.Phe32fs	coding	Pathogenic
9	114167925	CT	C	T114167926G	COL27A1	NM_032888.4(COL27A1):c.371del:p.Leu124fs	coding	Pathogenic
9	114168075	TGCGGGCAG	T	G114168076C	COL27A1	NM_032888.4(COL27A1):c.521_528del:p.Cys174fs	coding	Pathogenic
9	114168106	C	CT	C114168110T	COL27A1	NM_032888.4(COL27A1):c.554dup:p.His186fs	coding	Pathogenic
9	114252631	AC	A	C114252634A	COL27A1	NM_032888.4(COL27A1):c.3075del:p.Lys1026fs	coding	Pathogenic
9	114283743	CG	C	G114283746A	COL27A1	NM_032888.4(COL27A1):c.3917del:p.Gly1306fs	coding	Pathogenic
9	114403334	TC	T	C114403336A	WHRN	NM_015404.4(WHRN):c.2423del:p.Gly808fs	coding	Pathogenic
9	114403924	TCG	T	C114403925T	WHRN	NM_015404.4(WHRN):c.2388_2389del:p.Asn796fs	coding	Pathogenic
9	114406403	CG	C	G114406407C	WHRN	NM_015404.4(WHRN):c.2187del:p.Asp730fs	coding	Pathogenic
9	114407693	G	GGTCAAA	T114407698A	WHRN	NM_015404.4(WHRN):c.1698+253_1698+254insTGACTT	noncoding	Benign
9	114466373	T	TC	A114466379C	WHRN	NM_015404.4(WHRN):c.856dup:p.Asp286fs	coding	Pathogenic/Likely_pathogenic
9	114478652	TG	T	G114478656A	WHRN	NM_015404.4(WHRN):c.737del:p.Pro246fs	coding	Pathogenic
9	114478709	G	GC	A114478715C	WHRN	NM_015404.4(WHRN):c.680dup:p.Tyr228fs	coding	Pathogenic
9	114478746	AC	A	C114478748A	WHRN	NM_015404.4(WHRN):c.643del:p.Val215fs	coding	Pathogenic
9	114504236	AGAATCTGGTCCCC	A	A114504239C	WHRN	NM_015404.4(WHRN):c.553_565del:p.Gly185fs	coding	Pathogenic
9	116697936	GCAAGATTACC	G	A116697938G	TRIM32	NM_001365068.1(ASTN2):c.2806+27825_2806+27834del	coding	Pathogenic
9	116698197	AGTTAACTC	A	T116698200C	TRIM32	NM_012210.4(TRIM32):c.458_465del:p.Leu153fs	coding	Pathogenic
9	116698432	TG	T	G116698433C	TRIM32	NM_001365068.1(ASTN2):c.2806+27338del	coding	Pathogenic/Likely_pathogenic
9	116698499	CT	C	T116698500A	TRIM32	NM_012210.4(TRIM32):c.758del:p.Leu253fs	coding	Pathogenic
9	116698658	T	TC	T116698661C	TRIM32	NM_001365068.1(ASTN2):c.2806+27111dup	coding	Pathogenic
9	116698848	GA	G	A116698850T	TRIM32	NM_001365068.1(ASTN2):c.2806+26922del	coding	Pathogenic/Likely_pathogenic
9	116698869	GTC	G	C116698873A	TRIM32	NM_001365068.1(ASTN2):c.2806+26900_2806+26901del	coding	Pathogenic
9	116698902	T	TCGCTGACC	G116698911C	TRIM32;ASTN2	NM_012210.4(TRIM32):c.1161_1168dup:p.Arg390fs	coding	Pathogenic
9	116699102	G	GTA	C116699109T	TRIM32;ASTN2	NM_001365068.1(ASTN2):c.2806+26663TA[4]	coding	Pathogenic
9	116699110	C	CT	G116699113T	TRIM32	NM_012210.4(TRIM32):c.1370dup:p.Leu457fs	coding	Pathogenic
9	116699308	TGCTGAGG	T	T116699311A	TRIM32	NM_001365068.1(ASTN2):c.2806+26456_2806+26462del	coding	Pathogenic/Likely_pathogenic
9	117414630	C	CGCG	T117414648G	ASTN2	NM_001365068.1(ASTN2):c.294_296CGC[6]:p.Ala103dup	coding	Benign
9	120402984	G	GAC	G120402993A	CDK5RAP2	NM_018249.6(CDK5RAP2):c.5121_5122GT[5]:p.Ser1710fs	coding	Pathogenic
9	120408401	GGA	G	G120408406C	CDK5RAP2	NM_018249.6(CDK5RAP2):c.4666_4667TC[2]:p.Leu1557fs	coding	Pathogenic
9	120443670	AC	A	C120443671A	CDK5RAP2	NM_018249.6(CDK5RAP2):c.3097del:p.Val1033fs	coding	Pathogenic
9	120491412	AT	A	T120491416C	CDK5RAP2	NM_018249.6(CDK5RAP2):c.1376del:p.Asn459fs	coding	Pathogenic
9	120525059	TC	T	C120525060A	CDK5RAP2	NM_018249.6(CDK5RAP2):c.1018del:p.Glu340fs	coding	Pathogenic
9	120953758	GG	C	G120953758C	C5	NM_001735.2(C5):c.4872_4873delCCinsG	coding	Pathogenic
9	121332699	A	AGTGT	T121332720G	GSN	NM_001127666.2(GSN):c.*97_*98GT[12]	noncoding	Benign
9	122629491	C	CA	C122629499A	OR1B1	NM_001004450.1(OR1B1):c.44dup:p.Leu15fs	coding	Benign
9	123373608	T	TGGCGCGGCCCCGGCCC	T123373636G	CRB2	NM_173689.7(CRB2):c.3089_3104dup:p.Gly1036fs	coding	Pathogenic
9	123373821	CCT	C	C123373822G	CRB2	NM_173689.7(CRB2):c.3291_3292del:p.Cys1098fs	coding	Pathogenic
9	124482935	G	GTCAAGCAGGGCGGCGTTGGCCTTCTCCTGAGCGTCTT	C124482976A	NR5A1	NM_004959.5(NR5A1):c.1172_1208dup:p.Asp403delinsGluArgArgSerGlyGluGlyGlnArgArgProAlaTer	coding	Pathogenic
9	124500260	CCAGCTGCAG	C	C124500270G	NR5A1	NM_004959.5(NR5A1):c.682_690CTGCAGCTG[1]:p.228_230LQL[1]	coding	Pathogenic
9	124500293	CG	C	G124500294T	NR5A1	NM_004959.5(NR5A1):c.666del:p.Asn222fs	coding	Pathogenic
9	124500561	AG	A	G124500566C	NR5A1	NM_004959.5(NR5A1):c.398del:p.Pro133fs	coding	Pathogenic
9	124500569	GC	G	C124500570G	NR5A1	NM_004959.5(NR5A1):c.390del:p.Pro131fs	coding	Pathogenic
9	124503188	CTTG	C	G124503194C	NR5A1	NM_004959.5(NR5A1):c.129_131CAA[1]:p.Asn44del	coding	Pathogenic
9	124503218	GC	TT	G124503218T	NR5A1	NM_004959.5(NR5A1):c.104_105delinsAA:p.Gly35Glu	coding	Pathogenic
9	124503358	CACAG	ACAGGTCCAGGTC	C124503358A	NR5A1	NM_004959.5(NR5A1):c.34_38delinsGACCTGGACCTGT:p.Leu12fs	coding	Pathogenic
9	124503377	CG	C	G124503378T	NR5A1	NM_004959.5(NR5A1):c.18del:p.Asp6fs	coding	Pathogenic
9	126615527	ACTTCC	A	C126615528G	LMX1B	NM_002316.3(LMX1B):c.285_289del:p.Tyr95_Arg97delinsTer	coding	Pathogenic
9	126691048	GC	G	C126691052G	LMX1B	NM_002316.3(LMX1B):c.543del:p.Asp182fs	coding	Pathogenic
9	126693245	AC	A	C126693249G	LMX1B	NM_002316.3(LMX1B):c.667del:p.Arg223fs	coding	Pathogenic
9	126693564	G	GC	G126693566C	LMX1B	NM_001174147.2(LMX1B):c.783dup:p.Val262fs	coding	Pathogenic
9	126693586	GAACCAA	G	A126693588G	LMX1B	NM_001174147.2(LMX1B):c.806_811del:p.Asn269_Gln270del	coding	Pathogenic
9	126695867	GATGGCTTCCT	G	T126695869C	LMX1B	NM_001174147.2(LMX1B):c.917_926del:p.Met306fs	coding	Pathogenic
9	126695882	GC	G	C126695884G	LMX1B	NM_001174147.2(LMX1B):c.932del:p.Pro311fs	coding	Pathogenic
9	126699039	CTT	C	T126699041C	LMX1B	NM_002316.3(LMX1B):c.*2590_*2591del	noncoding	Benign
9	127402731	A	AC	A127402739C	SLC2A8	NM_014580.5(SLC2A8):c.708dup:p.Ile237fs	coding	Benign
9	127455033	CT	C	T127455034C	LRSAM1	NM_138361.5(LRSAM1):c.109del:p.Ser37fs	coding	Pathogenic
9	127487747	GC	G	C127487749A	LRSAM1	NM_138361.5(LRSAM1):c.1333del:p.Gln445fs	coding	Pathogenic
9	127489556	CAG	C	G127489560C	LRSAM1	NM_138361.5(LRSAM1):c.1422+42_1422+43del	noncoding	Benign
9	127491007	G	GA	C127491008A	LRSAM1	NM_138361.5(LRSAM1):c.1423-208_1423-207insA	noncoding	Benign
9	127491282	CAG	C	A127491285T	LRSAM1	NM_001190723.3(LRSAM1):c.1423-1517_1423-1516del	coding	Pathogenic
9	127495413	CT	C	T127495414G	LRSAM1	NM_138361.5(LRSAM1):c.1694del:p.Leu565fs	coding	Pathogenic
9	127496079	CA	C	A127496080G	LRSAM1	NM_138361.5(LRSAM1):c.1815del:p.Asp607fs	coding	Pathogenic
9	127501048	G	GC	A127501055C	LRSAM1	NM_138361.5(LRSAM1):c.1957dup:p.Gln653fs	coding	Pathogenic
9	127501115	C	CA	G127501117A	LRSAM1	NM_138361.5(LRSAM1):c.2019dup:p.Glu674fs	coding	Pathogenic/Likely_pathogenic
9	127502809	CTGCTGCCAGCAG	C	A127502820C	LRSAM1	NM_138361.5(LRSAM1):c.2093_2104del	coding	Pathogenic
9	127502825	T	TGCCAGCCACTGCGCACCTGCCCGCTGTGCC	G127502861C	LRSAM1	NM_138361.5(LRSAM1):c.2104_2133dup:p.Pro702_Gln711dup	coding	Pathogenic
9	127502846	C	CCG	T127502850G	LRSAM1	NM_138361.5(LRSAM1):c.2121_2122dup:p.Leu708fs	coding	Pathogenic
9	127612424	A	AGCTGTTGTCGG	A127612436G	STXBP1	NM_003165.4(STXBP1):c.22_32dup:p.Glu12fs	coding	Pathogenic
9	127612434	GGA	G	A127612440T	STXBP1	NM_001374309.2(STXBP1):c.-6+388GA[2]	coding	Pathogenic
9	127612441	G	GT	A127612443T	STXBP1	NM_001032221.6(STXBP1):c.37+2dup	noncoding	Pathogenic/Likely_pathogenic
9	127651572	CCT	C	C127651587T	STXBP1	NM_003165.4(STXBP1):c.38-30CT[7]	noncoding	Benign
9	127651621	TAAA	T	A127651622G	STXBP1	NM_003165.4(STXBP1):c.57_59del:p.Ile19_Lys20delinsMet	coding	Pathogenic
9	127653740	T	TGAG	T127653746G	STXBP1	NM_001032221.6(STXBP1):c.116_118dup:p.Arg39dup	coding	Pathogenic
9	127653750	GT	G	T127653751C	STXBP1	NM_003165.4(STXBP1):c.124del:p.Ser42fs	coding	Pathogenic
9	127653774	C	CA	T127653776A	STXBP1	NM_003165.4(STXBP1):c.148dup:p.Ile50fs	coding	Pathogenic
9	127658452	GTAAACCTTCCACCAGAGGAGGACTCTGGCTAAGGTTAGATGGACTGGCTTGGGATTTATGTGGCACAGACTGTCTGACATTGCTAGGTTAAGCACGCATTTAACACACTGCTCTGTTTAAGCATGCAATCCACAATGGGGTGGGGTCGGGGGTGGTGTTTATGCAGTGAGAAGTGATGAATGTATTAAGCGTTCTTAAACACAGCAGCTGTGCAGAAAACCAGAGCCTGTGTTCCGTGGCCCTGGATCATTCTAGTTTTCCCCCTTGCACTCCCTCTTCAGGTAGGACCCACTCTGTCTAATTAGCAGTCCACCTCCAGACTTTGGTATTTTATGCTTTCATTTTATTTTATCAATATCCAGTTACTGTTCACATTTACCTGTCTTATAATTTTGGAGGTTACTTCAAATCACTATCCAAACAAGGTCCAACTCCTTGCTTCTGGGTAATAGTTGTCTTAGGCATGTTTTCTTTTGTTTTGTTTTGTTGGTTTTGTTTTGTTTTTTGAGACGAAGTCTAGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCACGATCTCGGCTCAGTGCAACCTCTGCCTCCCAGGTTCAAGAGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCACCCCCCCGCCACACCCAGCTAATTTTTGTATTTTTGGTAGAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAAGTGATCTACCTGTCTTGGTCTCCCAAAGTGCTGGGATTACAAGCATGAGCCACCACTCTCAGCCTTTTTTGTTTTTTTGGGTTGTTGTTGTTGTTTTTTGTTTGTTTGTTTTTGTTTTTGTTTTTTTTTGTTTTTTTTTTGAGACAGGTCTCTCTCCATCACCCAGGCTGGAGTGCAGTGTTGTGATCACAGTTCACTACAGCCCCGACCTCCGGGGCTTAAGTGATCCTCCCACCTCAGCCTCCCAAACAGCTGGGACTACAGGCACATGCCACCATGCCCAGCTAATTTTTGGTAGAGATGGAGATCTTGCTATGTTGCCCAGGCTAGTGGCAAACTCCTGAGCTCAAGTGATCCACCTGCCTTGGCCTCCCAAAGTGTTGGGATTACAGTTGTGAGCCACCATGCCAGCCTTAGGTGTCTTAGTCTATATAAATTTCCTCCAATTTTCACACTTTTTTTTTTCACTTTGAAAACTGGCTTACATATGAATTTCTACAGATGCAATTAAATTGCCAAAAGGTCATCAATATGAATCTCCTGGAAGGTTTCTGCCGGGTTTCCTTTTTTGTGGGTGTCTTCCTAACAACTAATTACAGTGGCTCCAAAGAACTGATACTGTCATTCCAGAATGAGCTAAGAAGGCCTTTGTTCATCTAAACTCTGAAATAGTACTAATTTTAAGTCCTCAGGACTTGGTTATGGCCAAACATGAGTGTTAGAATTATGCATCAAAAATCCCCTGATTTTGTGCAAGTGGCTTGAAGCCATTGGATTTAACTCAGTTCAGATACAGGTCCCATTTGGCTCTAGAATTGGATTCAGGTCCCTCTTTTTCCCCCCCATCCACAGTCCGTCCACTCTCTCATCAGTGACTTTAAGGACCCGCCGACTGCTAAATACCGGGCTGCACACGTCTTCTTCACTGACTGTGAGTACAACCAA	G	T127658453G	STXBP1	NM_001032221.6(STXBP1):c.246+2_325+14del	noncoding	Pathogenic
9	127660037	A	ACT	A127660045T	STXBP1	NM_003165.4(STXBP1):c.256_257TC[4]:p.Ile88fs	coding	Pathogenic
9	127660037	ACT	A	T127660043A	STXBP1	NM_001032221.6(STXBP1):c.260_261del:p.Leu87fs	coding	Pathogenic
9	127660047	CA	C	A127660048G	STXBP1	NM_003165.4(STXBP1):c.265del:p.Ser89fs	coding	Pathogenic
9	127660074	TA	T	A127660077T	STXBP1	NM_001032221.6(STXBP1):c.294del:p.Lys98fs	coding	Pathogenic
9	127660079	AC	A	C127660081G	STXBP1	NM_003165.4(STXBP1):c.298del:p.Arg100fs	coding	Pathogenic
9	127661118	GT	G	T127661121A	STXBP1	NM_003165.4(STXBP1):c.345del:p.Phe115fs	coding	Pathogenic
9	127661132	TA	T	A127661136T	STXBP1	NM_003165.4(STXBP1):c.360del:p.Lys120fs	coding	Pathogenic
9	127661148	CAA	C	A127661150G	STXBP1	NM_001032221.6(STXBP1):c.374_375del:p.Lys125fs	coding	Pathogenic
9	127661161	ACT	A	C127661164G	STXBP1	NM_003165.4(STXBP1):c.386_387CT[1]:p.Leu130fs	coding	Pathogenic
9	127661175	CAA	C	A127661176T	STXBP1	NM_003165.4(STXBP1):c.400_401del:p.Asn134fs	coding	Pathogenic
9	127663235	CA	C	A127663238G	STXBP1	NM_001032221.6(STXBP1):c.463del:p.Ser155fs	coding	Pathogenic
9	127663284	AGC	A	G127663287C	STXBP1	NM_001032221.6(STXBP1):c.512_513del:p.Arg171fs	coding	Pathogenic
9	127663349	C	CG	T127663355G	STXBP1	NM_003165.4(STXBP1):c.578+1dup	coding	Pathogenic
9	127665302	T	CAACAATGATG	T127665302C	STXBP1	NM_003165.4(STXBP1):c.634delinsCAACAATGATG:p.Tyr212delinsGlnGlnTer	coding	Pathogenic
9	127665304	T	TA	G127665308A	STXBP1	NM_003165.4(STXBP1):c.639dup:p.Ala214fs	coding	Pathogenic
9	127665324	TG	T	G127665329A	STXBP1	NM_001032221.6(STXBP1):c.661del:p.Glu221fs	coding	Pathogenic
9	127665329	G	GA	G127665331A	STXBP1	NM_003165.4(STXBP1):c.662dup:p.Asp224fs	coding	Pathogenic
9	127666193	C	CT	G127666195T	STXBP1	NM_003165.4(STXBP1):c.692dup:p.Ile232fs	coding	Pathogenic
9	127666205	C	CGG	A127666207G	STXBP1	NM_001032221.6(STXBP1):c.704_705insGG:p.Gly236fs	coding	Pathogenic
9	127666209	GCTTTGAC	G	T127666211C	STXBP1	NM_003165.4(STXBP1):c.709_715del:p.Phe237fs	coding	Pathogenic
9	127666254	CTA	C	A127666256G	STXBP1	NM_001032221.4(STXBP1):c.754_755del:p.Met252fs	coding	Pathogenic
9	127666286	GA	G	A127666287T	STXBP1	NM_001032221.6(STXBP1):c.785del:p.Asp262fs	coding	Pathogenic
9	127668179	GGT	G	G127668182C	STXBP1	NM_003165.4(STXBP1):c.895_896GT[1]:p.Ser300fs	coding	Pathogenic
9	127669900	AAGTCACC	A	A127669901C	STXBP1	NM_001032221.6(STXBP1):c.906_912del:p.Glu302fs	coding	Pathogenic
9	127669949	TG	T	G127669951A	STXBP1	NM_003165.4(STXBP1):c.956del:p.Gly319fs	coding	Pathogenic
9	127672068	GTCCCAG	TCAGCACC	G127672068T	STXBP1	NM_001032221.6(STXBP1):c.981_987delinsTCAGCACC:p.Ser328fs	coding	Pathogenic
9	127672075	A	AT	G127672077T	STXBP1	NM_001032221.6(STXBP1):c.989dup:p.Met330fs	coding	Pathogenic
9	127672101	GA	G	A127672104G	STXBP1	NM_001032221.6(STXBP1):c.1017del:p.Glu340fs	coding	Pathogenic
9	127672113	CA	C	A127672115G	STXBP1	NM_001032221.6(STXBP1):c.1028del:p.Lys343fs	coding	Pathogenic
9	127673180	GT	G	T127673181A	STXBP1	NM_001032221.6(STXBP1):c.1030del:p.Tyr344fs	coding	Pathogenic
9	127673228	AG	A	G127673230C	STXBP1	NM_001032221.6(STXBP1):c.1079del:p.Gly360fs	coding	Pathogenic
9	127673240	CA	C	A127673243C	STXBP1	NM_001032221.6(STXBP1):c.1092del:p.Lys364fs	coding	Pathogenic
9	127673243	ACT	A	C127673246G	STXBP1	NM_003165.4(STXBP1):c.1093_1094CT[1]:p.Cys366fs	coding	Pathogenic
9	127675844	A	AG	A127675847G	STXBP1	NM_001032221.6(STXBP1):c.1153dup:p.Asp385fs	coding	Pathogenic
9	127675861	A	ATCGTCCC	C127675869T	STXBP1	NM_003165.4(STXBP1):c.1169_1175dup:p.Ile393fs	coding	Pathogenic
9	127675865	TC	T	C127675869A	STXBP1	NM_001032221.6(STXBP1):c.1176del:p.Ile393fs	coding	Pathogenic
9	127675895	CT	C	T127675897A	STXBP1	NM_003165.4(STXBP1):c.1204del:p.Tyr402fs	coding	Pathogenic
9	127675928	TC	T	C127675929T	STXBP1	NM_001032221.6(STXBP1):c.1236del:p.Phe413_Leu414insTer	coding	Pathogenic
9	127676689	T	TA	C127676691A	STXBP1	NM_003165.4(STXBP1):c.1296dup:p.Pro433fs	coding	Pathogenic
9	127678443	C	CGCCGGAGCAA	G127678462A	STXBP1	NM_001032221.6(STXBP1):c.1381_1390dup:p.Arg464fs	coding	Pathogenic
9	127678443	CGCCGGAGCAA	C	A127678452G	STXBP1	NM_003165.4(STXBP1):c.1381_1390del:p.Lys461fs	coding	Pathogenic
9	127678454	GCCGGA	C	G127678454C	STXBP1	NM_001032221.6(STXBP1):c.1383_1388delinsC:p.Lys461fs	coding	Pathogenic
9	127680163	AT	A	T127680165G	STXBP1	NM_003165.4(STXBP1):c.1470del:p.Ile490fs	coding	Pathogenic
9	127680186	A	AC	A127680188C	STXBP1	NM_001032221.6(STXBP1):c.1492dup:p.His498fs	coding	Pathogenic
9	127680204	TA	T	A127680205C	STXBP1	NM_003165.4(STXBP1):c.1510del:p.Thr504fs	coding	Pathogenic
9	127682395	CTCTT	C	T127682399C	STXBP1	NM_003165.4(STXBP1):c.1548-7_1548-4del	noncoding	Benign/Likely_benign
9	127682425	CAT	C	T127682427A	STXBP1	NM_003165.4(STXBP1):c.1569_1570del:p.His523fs	coding	Pathogenic
9	127682430	GA	G	A127682432C	STXBP1	NM_001032221.6(STXBP1):c.1574del:p.Asn525fs	coding	Pathogenic
9	127682454	CA	C	A127682455G	STXBP1	NM_003165.4(STXBP1):c.1597del:p.Ser533fs	coding	Pathogenic
9	127682459	GC	G	C127682464G	STXBP1	NM_001032221.6(STXBP1):c.1606del:p.Arg536fs	coding	Pathogenic
9	127682463	CCG	C	G127682465C	STXBP1	NM_001032221.6(STXBP1):c.1607_1608del:p.Arg536fs	coding	Pathogenic
9	127682467	CTCA	C	C127682472T	STXBP1	NM_003165.4(STXBP1):c.1611_1613CAT[1]:p.Ile539del	coding	Pathogenic
9	127682484	TG	T	G127682489T	STXBP1	NM_003165.4(STXBP1):c.1631del:p.Gly544fs	coding	Pathogenic
9	127682501	AT	A	T127682502G	STXBP1	NM_001032221.6(STXBP1):c.1644del:p.Asn548fs	coding	Pathogenic
9	127682520	C	AA	C127682520A	STXBP1	NM_001032221.6(STXBP1):c.1662delinsAA:p.Tyr554Ter	coding	Pathogenic
9	127690797	AC	A	C127690798A	STXBP1	NM_003165.4(STXBP1):c.*40del	coding	Pathogenic
9	127814979	TGAATGTCACTGCCCTTCTCCCAGCCCAACCCATCACTGGTTTCATGGTCTGATTTATTGGTGGTGAATACACAGGGGCAGGCCCAGGACAAGCAGCTTGGCTACTCCCCCTCTGCTGGCTGCCCGACCGGCAGAGGGGGCTCCATGTGGCAGGAGCTAGGCTCCCAACGCCCACTGTTCTTGCCACCCTCTGGGCTCCCAGGCTGGGCTCCGCTAGGCTCCTGTCTCCCCTGCCAGTTAGTTAGGCAAGTTCAGGTGTGGAGGCCGCAGGGATAGATCCAGGTGGCTCTGGGCTGGGCCCTCTTCTCTTCCCAGCGGGGAGGTGCTGTTGGCCTGGCTGGGCTGGCCTGAATCTGTTTCAAGTTCTCCCTTCCTGCCCAGCTCAGTTCACCAGTGCTGGATCCAGGTTCAAATGACAGGGACTTGGGTTTTTACAACAGCGTGGCAAGTGGTCTGTCTCCTGGGCAGCCATATCCCAGACCCACTGGGTTGAAGGTTCTGTGGGGTGGAGGGACCCCAAGGTGTTCCAAGCCAGTGGCTGCACTGGCAGCAGGCCTCTGAGAGGGAGGCGGGAAGGGTAGGCGCGGAGAGCAGGCTCCATTCTGGGTCGAGTGGAGGACTGGCTCCCAGGGTGAGTTCACACCAGTGCTCCCAGCTGGCGGCTGCTCAGTCTCTCCTGCTGGGCGAGCGCGGGGGGCCGGGGCTATGCCATGCTGCTGGTGGAGCAGGGGGTGCTCTGGGTGCTCCCGATGCTGTGGTTGGTGCTGCTGCTCTCCGAGGAGGCCGGGGCAGCCACCGCCACCACGGGCTCCCGCTTGCTGGGGGAACCTGGGAGCGGGAGCGGGGGCAGGGGCGGAGGTCAGGGTCCTGGCCAGGGCCCCTCAATCCCTCAGAGGCTTCACTGGGCTCCCCCGGGTGGATGGAGGGGCCCGGCATGCTCACTGTGGGGGCCTGGGGTACTCACGCGTGTGCGAGTAGATGTACCAGAGTGCAGCAGTGAGCAGGGCCCCGATGAGGAAGGCACCAAAGGTGATGCCCAGCACGGCGGGCAGGACGAGGCCTTTGCTTGTGCAACCTAGAGAGGGCCGACGCCATCAGCACTGCCACTCTGCCCCTGCCCCATCCCCTACCCTGTTGTGCTGGCCCATGTGGGCTTTGGTGCCAGCTCTGCTCAGCCATGGACCCTCGACTTCTCTGAACCTCAGTCTCCTCTTGCAGCAAACGGGCTCATCACAGCCAGGCCTGGCATTGAGCCATGGTTGCTAGGACTGTCCACCTAGAGGGCCCAGCCAGGCCTTTTGGGTCATGCCTCTGCCCCTCAAGGCTGATGGAGATGGCGTTTTCAGGGAGGATGGATGGGGTAACGTGAGGAAACTGAGGCTCGGGAGTACAGAGCCTGCCCCACCTGCTGCATGACCTTGGGTCAACCCTGCCCCTCTCTGAGGCCTTTAGCAGGTAGAGAATGGGCCAGAGCAGCTCCGAGTGCCCTGCAGCTCTGCTCTTGGATTGCTCCAAGCCTCATTCCCTCCACATTCCTGACTCCTGTGTGGCTATGGGCCAAGCAGTCTTTCCTTGAGCCTCTGACATCCGATTCTGTGTCATGGGGTTATCAGCCCTGCCTTCTTGGTCCTGGGCTGGGAGTGGAGGCTCCATCCTGGCCTGGATGGGGTGGCAAAGAGGTAGGTGCCCCCATCCCTCACCCCTGCCTCTGCCACCAGTGTCGGGACTCTTCTGCCTGGTGTGGGCCTGGGCCTGGGGGGAACTGATGGAGAGGCTAGAGGGGGCGTCCTGCAGGGAGAGGCCTCAAGGAAGGCAAGGCCAGCACCCACCCTCAAAGGGCCTCTGTCTCACCCAGGAGACTCCATCCTCCCAGCAAGGTCAGCCAATAACTGTGGGGATGGAGTGGAGCCGTGAGTGGGGGCAGAGGCCTAGACTCCCACCCCACAGGGCGGTCCCGGGCAAGGGCTCTCCATCTGCAAAGTGCAGCTCTGGCCCCTGCTCTAGGCTGCTATGGCTCTGGGAAGCCCTCCTCCTGCCCCTTCTGGGCCGCTTTCTCTGGGGTCCCCCTTGCCATGTGCTATGTGCCCAGGCCGTTTCTCAGGGCTGCCCGCTGTGCCCTACTGTGACCTCAGCCACTAGAACAAACCCGAGAGACCTGGAGGGAGCTCACCAGACAGGTCAGGGCTGATGATGTTCAAGCGCATGAAGACAGTCCTATGGACTTCCTGGAGGAGAAAGAGAGAGCAGTATGTGGCACCTTTGGGAGGCGGCTTCCAGGTTTACTCCCTGGCTCCGTGACCCCAGCCCACCCTAGAGCCTTGGCTTTGAATCCCATCTCCACCGCTTCGTAGCTGGATGCCTCTGGGTGAGTCCTGGAAGATCTGTGCTGTGGGAGGGTGCCTAGTGGACGATCCCTGGCTGCTGCTGAAATGTTTCCTGTGAGTTCCTGGAGGCCTTGATGCCCAGGAGCACTGTGGAAGCACTATGCATCCCTCACCCTTGTGAACACTTTGGAGCTATGAGCCAGGTCAGCCCAGAGTCCCAGGCTCACTCTGGCTGGAGGGAGAGGCCCACTTAGGGGAGTTGAAGGCTTCCCTAGCTTCCTATGACCAGAGAAGTTTGTAATCCTGGAGGCCTGTCTGTGCAAGGGCCTGGGGGTGACTCTGGGGGCGTCCAGGATAGATTGCCTGAGAGTGGGGGTCACCAGATGGTGAAGTGTTGTGACTGGCAAATACAGAAAGCCAGGAGTGTGTGTCCTTTGTCCGCCTCTCTTCCCTCAGGTCTCCTGTTCTTTGAGATTACACTGGTGACCATACTACATGGATGTGCGGGTGGTTAGATTCCTGGGTGGGAGGGTGGATGGATGGATGGACGGACGGGTAAGTGAAAGGATGGATGGATGGATAGATGGACAGTGGCAGCTGCATAGTCTGCCAGTGCCCCAGACACAGCAGTCCCACCAGAAAGCTCTCGGGTGGCAGAAAGTGCTGCTGGCAGCCAGACTGCCAGGCCACATGCCTGATTAAGGCTCCGCCCCTCACCAGCTGGCCCCACATCCCTGTGGGCTGCCATGTCCCTTCCTGCAAACCACAGACCTGGAAGCTCCCACTTGAAGCTGGGGCCGGCCCAGGCCCCACTCACCTGGTCTTGAGACCCGGTCTTGGGACGCAGGGCTACCGTGCAGCTGAGGGTGCCGGTTTTGGGTATGGGTACTGTGTAGAAGTGGAGGAGGAAGCTGAAGCGCGGGTCACCCTCGGGGCTTGGGGACAGCAGGCTCACACAGTTGCCCTTGGCCGCCCGGCCCTGGATGAGTTCCACGGTGCCTCCCTCAGGCCCCAAGTCCAGGTGGCAGCTGTCTAACTGGAGCAGGAACTCGGAGACGGATGGGGACACTCTGACCTGCATGGGTAGGTAGGGCCACGCGGCATGGGCAGCTGCTCTTCACCCCACCCCACCTGCTGCCTTCAAATATCGGCTAGAATTAAGAGTTCCCACCCCTGAGTCCTCACAGTGGAAAGAAAGACATGGACCTGTCTGGGGCAGAGGAGGAGGACAGGGCCACATCCTTGTCAGTGTCCCTGAGCAATGCCTTCTCTGTCTCTCCCTCTCCCGTGCACCCAGGCTGTCTCCCTCCTGACTCTGGGAGTCTCATCTCCTCTGGAGTCATGGTGGGAAGAAAGGCGGAGAGGAAGTTCCAGGAGCTGGGAGGCCCGAGGGGTGACAGGCATGCCAGGTACCTGCACAAAGCTCTGCTGCCCCGGCTCGATGGTGTTGGAGGCCTGGAGGAAGTGTGGGCTGAGGTAGAGGCCCAGCTGGAAAGAGAGGCTGTCCATGTTGAGGCAGTGCACCTTTTTCTGGGGGAGGACGGGAGGGAGACTTGGTCAATCTGGCGGCGCCAGCCAGGAGGGCGAGGGGTGTGGGGAGGAACAGGCATCATGGCCCTGTGGAGTTGCCTGACTCTCTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGTGCGATCTCAGCTCACTGCAAGCTCCGCCTCCCGGGTTCATGCCATTCTCCTACCTCAGCCTCCCAAGTAGCTGGGATTACAGGTGCCCGCCACCACGCCCGGCTAATTTTTTGTATTTTTAGTAGATACGGGGTTTCACCATGTTAGCCAGGATGGTCTCAATCTCTTCACCTCGTGATCTGCCCGCCTCGGCCTCCCAAAGTGCTGCGATTACAGGCGTGAGCCACTGCGCCCGGCCCTTTTTTTTTTTTTTAAACTAATATTTATCAAGGAGGCACCAGCTGCCAGGCTGTGTGAAGAGCTTCCACACAGCACCTCATTGGCTGCCCAGAAGCACCCTGTGGCGCAGAGTCCTTTCTTAGGCCACCTTTGGGCCCAGAAAACTAAAGTGACTTGCCCAAGGCCACACAGCCAGTATGTGCTAAGCCCTCTGACTTGAGAGACCAAGAGCGTCACCCTCAGCAGTCCTGCTCCGGTCATACAGAAGGGGAGACCGAGGCATTCCAGACACACATGGCTTGCCAGGAGTTTCCCGAGGCCTGCTCCCTCCCAGGCCAGGAAGAGGCCCCGGCCCAGCAGCAGCCCCTGGGCCAGGTGGGTTAGCACGTGACTGTCCATCTCACCCGCTGTGGTGATGAGCTCGACAGGATATTGACCACCGCCTGCGGGGATAAAGCCAGGGAGCTGGTCAGAGCCAGAAAGGACCCCAGAGGGTATCCCACCCAATACGCCCATTTTTGCAGATGGGGAGACTAAGCCAACCAATGGCCAAGCTTGTCTTGTGTTCTGAGCCCCTGCAGCCTGCTCTCCCAAACACACCTCCACCCTGGGGGATCAGGGAGGGCACCTGAGGGGGCACCAACCAGGCTGGTCCTGATACCTTTTTGGCCCCAGCTCTTACCTCATTGCTGATCATACTTGCTGACACCTGCATGCCACAGCTGGAGTAAGCACTGCGCAAGACAAACTTGTCACCCCTGTCCTCTGCCTCACAGCTGGGGTCCCAGAAGGTCAGGCCCGTGATGGTGCACTTCAAATGCTGGGTCGGAAGA	T	A127814982G	ENG	Single_allele	noncoding	Pathogenic
9	127815990	AT	A	T127815991G	ENG	NM_000118.3(ENG):c.1804del:p.Ile602fs	coding	Pathogenic
9	127817170	T	TG	T127817172G	ENG	NM_000118.3(ENG):c.1719dup:p.Ile574fs	coding	Pathogenic
9	127817188	CA	C	A127817189G	ENG	NM_000118.3(ENG):c.1701del:p.Val568fs	coding	Pathogenic
9	127817190	GTCCTATGGACT	G	A127817195G	ENG	NM_000118.3(ENG):c.1689_1699del:p.Glu563Aspfs	coding	Pathogenic
9	127817191	TC	T	C127817193T	ENG	NM_001114753.3(ENG):c.1698del:p.Thr567fs	coding	Pathogenic
9	127817194	TA	T	A127817195T	ENG	NM_001114753.3(ENG):c.1695del:p.His565fs	coding	Pathogenic
9	127817202	TC	T	C127817204T	ENG	NM_000118.3(ENG):c.1687delG	coding	Pathogenic
9	127817279	CCAGCCCACCCTAGAGCCTTGGCTTTGAATCCCATCTCCACCGCTTCGTAGCTGGATGCCTCTGGGTGAGTCCTGGAAGATCTGTGCTGTGGGAGGGTGCCTAGTGGACGATCCCTGGCTGCTGCTGAAATGTTTCCTGTGAGTTCCTGGAGGCCTTGATGCCCAGGAGCACTGTGGAAGCACTATGCATCCCTCACCCTTGTGAACACTTTGGAGCTATGAGCCAGGTCAGCCCAGAGTCCCAGGCTCACTCTGGCTGGAGGGAGAGGCCCACTTAGGGGAGTTGAAGGCTTCCCTAGCTTCCTATGACCAGAGAAGTTTGTAATCCTGGAGGCCTGTCTGTGCAAGGGCCTGGGGGTGACTCTGGGGGCGTCCAGGATAGATTGCCTGAGAGTGGGGGTCACCAGATGGTGAAGTGTTGTGACTGGCAAATACAGAAAGCCAGGAGTGTGTGTCCTTTGTCCGCCTCTCTTCCCTCAGGTCTCCTGTTCTTTGAGATTACACTGGTGACCATACTACATGGATGTGCGGGTGGTTAGATTCCTGGGTGGGAGGGTGGATGGATGGATGGACGGACGGGTAAGTGAAAGGATGGATGGATGGATAGATGGACAGTGGCAGCTGCATAGTCTGCCAGTGCCCCAGACACAGCAGTCCCACCAGAAAGCTCTCGGGTGGCAGAAAGTGCTGCTGGCAGCCAGACTGCCAGGCCACATGCCTGATTAAGGCTCCGCCCCTCACCAGCTGGCCCCACATCCCTGTGGGCTGCCATGTCCCTTCCTGCAAACCACAGACCTGGAAGCTCCCACTTGAAGCTGGGGCCGGCCCAGGCCCCACTCACCTGGTCTTGAGACCCGGTCTTGGGACGCAGGGCTACCGTGCAGCTGAGGGTGCCGGTTTTGGGTATGGGTACTGTGTAGAAGTGGAGGAGGAAGCTGAAGCGCGGGTCACCCTCGGGGCTTGGGGACAGCAGGCTCACACAGTTGCCCTTGGCCGCCCGGCCCTGGATGAGTTCCACGGTGCCTCCCTCAGGCCCCAAGTCCAGGTGGCAGCTGTCTAACTGGAGCAGGAACTCGGAGACGGATGGGGACACTCTGACCTGCATGGGTAGGTAGGGCCACGCGGCATGGGCAGCTGCTCTTCACCCCACCCCACCTGCTGCCTTCAAATATCGGCTAGAATTAAGAGTTCCCACCCCTGAGTCCTCACAGTGGAAAGAAAGACATGGACCTGTCTGGGGCAGAGGAGGAGGACAGGGCCACATCCTTGTCAGTGTCCCTGAGCAATGCCTTCTCTGTCTCTCCCTCTCCCGTGCACCCAGGCTGTCTCCCTCCTGACTCTGGGAGTCTCATCTCCTCTGGAGTCATGGTGGGAAGAAAGGCGGAGAGGAAGTTCCAGGAGCTGGGAGGCCCGAGGGGTGACAGGCATGCCAGGTACCTGCACAAAGCTCTGCTGCCCCGGCTCGATGGTGTTGGAGGCCTGGAGGAAGTGTGGGCTGAGGTAGAGGCCCAGCTGGAAAGAGAGGCTGTCCATGTTGAGGCAGTGCACCTTTTTCTGGGGGAGGACGGGAGGGAGACTTGGTCAATCTGGCGGCGCCAGCCAGGAGGGCGAGGGGTGTGGGGAGGAACAGGCATCATGGCCCTGTGGAGTTGCCTGACTCTCTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGTGCGATCTCAGCTCACTGCAAGCTCCGCCTCCCGGGTTCATGCCATTCTCCTACCTCAGCCTCCCAAGTAGCTGGGATTACAGGTGCCCGCCACCACGCCCGGCTAATTTTTTGTATTTTTAGTAGATACGGGGTTTCACCATGTTAGCCAGGATGGTCTCAATCTCTTCACCTCGTGATCTGCCCGCCTCGGCCTCCCAAAGTGCTGCGATTACAGGCGTGAGCCACTGCGCCCGGCCCTTTTTTTTTTTTTTAAACTAATATTTATCAAGGAGGCACCAGCTGCCAGGCTGTGTGAAGAGCTTCCACACAGCACCTCATTGGCTGCCCAGAAGCACCCTGTGGCGCAGAGTCCTTTCTTAGGCCACCTTTGGGCCCAGAAAACTAAAGTGACTTGCCCAAGGCCACACAGCCAGTATGTGCTAAGCCCTCTGACTTGAGAGACCAAGAGCGTCACCCTCAGCAGTCCTGCTCCGGTCATACAGAAGGGGAGACCGAGGCATTCCAGACACACATGGCTTGCCAGGAGTTTCCCGAGGCCTGCTCCCTCCCAGGCCAGGAAGAGGCCCCGGCCCAGCAGCAGCCCCTGGGCCAGGTGGGTTAGCACGTGACTGTCCATCTCACCCGCTGTGGTGATGAGCTCGACAGGATATTGACCACCGCCTGCGGGGATAAAGCCAGGGAGCTGGTCAGAGCCAGAAAGGACCCCAGAGGGTATCCCACCCAATACGCCCATTTTTGCAGATGGGGAGACTAAGCCAACCAATGGCCAAGCTTGTCTTGTGTTCTGAGCCCCTGCAGCCTGCTCTCCCAAACACACCTCCACCCTGGGGGATCAGGGAGGGCACCTGAGGGGGCACCAACCAGGCTGGTCCTGATACCTTTTTGGCCCCAGCTCTTACCTCATTGCTGATCATACTTGCTGACACCTGCATGCCA	C	C127817284T	ENG	NM_000118.3(ENG):c.1236_1687-77del	noncoding	Pathogenic
9	127818121	TGGTCTTGAGACCC	T	A127818129G	ENG	NM_000118.3(ENG):c.1672_1684del:p.Gly558fs	coding	Pathogenic
9	127818130	GA	G	A127818131C	ENG	NM_001114753.3(ENG):c.1675del:p.Ser559fs	coding	Pathogenic
9	127818179	TG	T	G127818182T	ENG	NM_001114753.3(ENG):c.1626del:p.Thr544fs	coding	Pathogenic
9	127818179	T	TG	T127818183G	ENG	NM_001114753.3(ENG):c.1626dup:p.Lys543fs	coding	Pathogenic
9	127818190	A	ACTGTGTAGAAGTGGAGGAGGAAGCTGAAGCGCGGGTCACCCTCGGGGCTTGGGGACAGCAGGCTCACACAGTTGCCCTTGGCCGCCCGGCC	G127818285T	ENG	NM_000118.3(ENG):c.1525_1615dup:p.Val539delinsGlyProGlyGlyGlnGlyGlnLeuCysGluProAlaValProLysProArgGlyTer	coding	Pathogenic
9	127818222	CG	C	G127818225T	ENG	NM_000118.3(ENG):c.1583del:p.Pro528fs	coding	Pathogenic
9	127818222	CGG	C	G127818224T	ENG	NM_001114753.3(ENG):c.1582_1583del:p.Pro528fs	coding	Pathogenic
9	127818250	AGG	A	G127818251C	ENG	NM_000118.3(ENG):c.1554_1555del:p.Leu519fs	coding	Pathogenic
9	127818254	TCA	T	C127818259G	ENG	NM_000118.3(ENG):c.1546_1547TG[2]:p.Val517fs	coding	Pathogenic
9	127818264	GC	G	C127818267T	ENG	NM_000118.3(ENG):c.1541del:p.Gly514fs	coding	Pathogenic
9	127818290	G	GT	C127818293T	ENG	NM_000118.3(ENG):c.1515dup:p.Leu506fs	coding	Pathogenic
9	127818296	CG	C	G127818298T	ENG	NM_000118.3(ENG):c.1509del:p.Val504fs	coding	Pathogenic
9	127818315	C	CA	G127818318A	ENG	NM_001114753.3(ENG):c.1490dup:p.Leu497fs	coding	Pathogenic
9	127818330	GCTGT	G	G127818333A	ENG	NM_001114753.3(ENG):c.1472_1475del:p.Asp491fs	coding	Pathogenic
9	127818335	C	CT	A127818337T	ENG	NM_001114753.3(ENG):c.1470dup:p.Asp491fs	coding	Pathogenic
9	127818349	A	AACTCGGAGACGGATGGGGAC	T127818374G	ENG	NM_001114753.3(ENG):c.1437_1456dup:p.Phe486fs	coding	Pathogenic
9	127818354	GGA	G	G127818357C	ENG	NM_001114753.3(ENG):c.1450_1451del:p.Ser484fs	coding	Pathogenic
9	127818370	ACT	A	C127818373G	ENG	NM_000118.3(ENG):c.1434_1435del	coding	Pathogenic
9	127818719	CACAAAGCTCT	C	A127818720G	ENG	NM_000118.3(ENG):c.1415_1424del:p.Gln472fs	coding	Pathogenic
9	127818727	TCT	AC	T127818727A	ENG	NM_001114753.2(ENG):c.1415_1417delinsGT:p.Gln472fs	coding	Pathogenic
9	127818733	GC	G	C127818737G	ENG	NM_000118.3(ENG):c.1410del:p.Gln471fs	coding	Pathogenic
9	127818749	G	GT	G127818752T	ENG	NM_000118.3(ENG):c.1394dup:p.Asn465fs	coding	Pathogenic
9	127818780	T	TG	A127818781G	ENG	NM_000118.3(ENG):c.1363_1364insC:p.Tyr455fs	coding	Pathogenic
9	127818796	AAG	A	A127818801G	ENG	NM_001114753.2(ENG):c.1342_1343CT[2]:p.Ser449fs	coding	Pathogenic
9	127818809	CA	C	A127818810T	ENG	NM_000118.3(ENG):c.1334del:p.Met445fs	coding	Pathogenic
9	127818810	A	AT	G127818812T	ENG	NM_001114753.3(ENG):c.1333dup:p.Met445fs	coding	Pathogenic
9	127818816	AG	A	G127818818C	ENG	NM_000118.3(ENG):c.1327del:p.Leu443fs	coding	Pathogenic
9	127819620	A	AC	G127819624C	ENG	NM_000118.3(ENG):c.1311dupG	noncoding	Pathogenic
9	127819646	G	GA	T127819648A	ENG	NM_000118.3(ENG):c.1286dup:p.Leu430fs	coding	Pathogenic
9	127819654	CCAC	TTTAT	C127819654T	ENG	NM_001114753.3(ENG):c.1276_1279delinsATAAA:p.Val426fs	coding	Pathogenic
9	127819903	AT	A	T127819905G	ENG	NM_000118.3(ENG):c.1268del:p.Asn423fs	coding	Pathogenic
9	127819924	C	CA	C127819926A	ENG	NM_000118.3(ENG):c.1247dup:p.Ser417fs	coding	Pathogenic
9	127819933	GC	G	C127819935A	ENG	NM_001114753.3(ENG):c.1238del:p.Gly413fs	coding	Pathogenic
9	127819972	AC	A	C127819976T	ENG	NM_000118.3(ENG):c.1199del:p.Gly400fs	coding	Pathogenic
9	127819975	CCT	C	C127819976G	ENG	NM_000118.3(ENG):c.1195_1196del:p.Arg399fs	coding	Pathogenic/Likely_pathogenic
9	127819976	CT	C	T127819977G	ENG	NM_000118.3(ENG):c.1195del:p.Arg399fs	coding	Pathogenic
9	127820026	GC	G	C127820027A	ENG	NM_000118.3(ENG):c.1145del:p.Cys382fs	coding	Pathogenic
9	127824312	GCT	G	C127824315T	ENG	NM_001114753.2(ENG):c.1122_1123AG[1]:p.Glu375fs	coding	Pathogenic
9	127824313	CTCTT	C	C127824319A	ENG	NM_001114753.2(ENG):c.1117_1120AAGA[1]:p.Lys374fs	coding	Pathogenic
9	127824326	A	AC	A127824329C	ENG	NM_000118.3(ENG):c.1111dup:p.Val371fs	coding	Pathogenic
9	127824352	CTT	C	T127824354G	ENG	NM_000118.3(ENG):c.1084_1085del:p.Lys362fs	coding	Pathogenic
9	127824354	TTGTC	T	T127824357G	ENG	NM_000118.3(ENG):c.1080_1083del:p.Thr361fs	coding	Pathogenic
9	127824378	GCTCCGGGCTACAAGTGTCCTTGGGAGGAGTG	CCACCAT	G127824378C	ENG	NM_001114753.2(ENG):c.1029_1060delinsATGGTGG:p.Thr344fs	coding	Pathogenic
9	127824413	TGGATCGGTGC	T	A127824416G	ENG	NM_000118.3(ENG):c.1015_1024del:p.Ala339fs	coding	Pathogenic
9	127824676	GAAAAATGAGGCTCAGAGAGGCTGATGTACCTTGCCCAAGCTCACACAGAGGTGCTTCACCAACAGTGTGGCCACTGATCCAAGGGAGGGGAAGGGAAGGGAGGGGCAGGGGAAGGGTGCTCACCGCAGCTGGAGGCATGAAGTGAGACAATGCTGGCCAGCGGTAGCTCCACGAAGGATGCCACAATGCTGGCATTGAGCATCCGGGCCTCCCCCAGGAGGCCTTGAGGTGTGTCTGGGAGCTTGAAGCCACGAATGTTTTTCTCTGGAAAGATCTTGAAGGAGTATTCTCCAGTGGTCTAATGGTGGGGAGAGAGGCAGAACAGGGGGCCATGGACACAGTCTGTGCCACAGCAGGCCAGCCAGGGTTATGCCAGGCCTCGGTCCTGCTGTGTCCCCACTCCTGCTGCGTCTTCTGCCTGGCCCCTTCCCTCACGTATGGGCATAGGTGATTTGTCCTTCAGCTCAGCTCGGGGGTTCACCTTTCCAGGAAACTTCCCTGATCCAGAGGTTGGGAGTTTGGGTTTTGTGTCCCGGGAGCTGCGCACAACTCACCCAGATCTGCATGTTGTGGTTGGCGTCGATGAGCCAGGACACGTAGGGGGGACCCTGCAGGATGAGGACGGCATCGAGATCCCCGGGTGCGCAGCTCAGTTCCACCTTCACCGTCACCGTCCGGGGCCTGCGGGGAGACAGACGCGGATGGAACACTGAAGCGGACAGGCCAGGCGGGGAGCGAGGCCTGGCGTCGGGTGGGCGGCGGCTGCACTCTTACCTGGCCAGGTGTGGGTTTATGGGATAGGGATGGGACTGGGGCCAGGCTTGTGCCCAAAGGGAAGGGGCCCATAGGGGGCGTAGCCTAGAGTAGGAGAAAGCGACTGTGCTCTCACAGGGCTGCGGCGGGGCTGGGGCTGGGACTGGGGTGGGGCTTTATAAGGGACCGGAGAGGGGGCGGGGGGGGTCAGGGGGGTGGTCTCTCGGGGTGGGGACTAGTGTCAGGGGCGGGGCGAGAGCCATACCCGGCCGAGTGGCCCGGCAGGACCCTCAGGATGTGCGCCTCCTTGTGGCCGGCCACGCCTTCCAAGTGGCAGCCCCGGACCAAGGCTGGAGTACGCGGCCGCCACTCGAGCGTGCGGCCCATGTCCTGGCTGGCTTCCAGCATGCAGAAGGACAGTGACCCCTGGGCTGCAGAGACACGCGCACCTCAGTCCCTTCCCTCAGCAGCCCTGCACCTAACAGAGCCCCGCCCTCACCCACAGCCAAAGATAGTGGTGGGGCAGGCAGGACGGTGCTGCAGAGGGGGAGAGGCGTCAGAGGACCTAGGTTCGAACTTCCCTTCCACCACTCACCTGCCAAGTGACCCTGTGCAAGTCCCCGGGCCTCCGTGTGTTAACATAAGGGATGAGCCCATGACACATGTTAGGCTGCAGCCCCGAAACCACCCAGCAAGACCCGAAATTATAGATTTATCTGTGTACATGTACATGTTTATTGTCACCTCCCTCATCACAGTATCAGCTCCAGGAAGGCAGGGCCTGAGTGTGTCCCCAAGTGCCTAGCATGATAGGGCTTTGGCACATAGTAGATGCACAATAGATCGTATGAAAATGCTGGGGTTTTAGGTCAGAACCTGGCATATTCCACATGCTTCAATCTGATATTTGGTGGAGGAGCCATCACTGTCCCAAGGCAGCACTGGCTTGTGGCATGTGAACTGTGGCACAGCGTGTCCCCTCCTGCACTCTTGGTGCCCAAGTTTGAGGTGTGGGCCAGAGGAGCTCAGATTCCTCCTGAGCAGTATCATGAGCCCAGAGAGGTTGCTGGGGAAACTGACCTTGGCCCAGTCGGAGGAGGATGCTCTGGGGGTCATTCAGCTCAGCAGCAGAGGTGATGGGGCCCCTCTCAGCTGCCCACTCAAGGATCTGGGTCTTGGGGAAGGATGGCAGCTCTGTGGTGTTGACCCCCGGGGGCTCTTGGAAGGTGACCAGGCTGGAATTCTGGGGAGACATGTGGAGGCTCAGCACGCTGTTCCTGGCCCTGTGCCCTCTCTATCCCATGTAGGAGGTCAGGAAGTAATTTGTGGAGTCAGCCCATTGGCTGAGAGAAAGAGGCCGGAGCTGAGAATGCTGGCTGGTGGATCTGCAGTCAGCCCGGAGCCCCCTAGCAGTCAGATCAGCCCCTTCTCCCTTGCATACCTGGGGGGCCAGATGAACACACCACCTTGTTCATCCACCTGTCCAAACATCACCCACCCCTCCAGAGCTGTTCTCATTCAACCCACATCTACGCCATCCTGCGGCTGTCTCTCCCTATACCCTGAGGCTCTGGATCTCCCTACACTGTGAGGGTCTACAGGGGGCAACGTCTACCTTGCCCATCCTTGCACAGTGCTTGACACGTAGTACGCACTGAGAGAGATTTGTCTGACTTTGTGCTGGGCCCTGGGCCCATCACAGGATCCTGACATGCCAGCGTCACCCTGACACCCAGCATGTGATGGGTGCTCCCCGCCTATGGGAAGACAGGGAGAAAGGGAAGAAAGAAGAAAGGGATGGATGAATGAATTAATGAATTAAAGACAGATATCAGTGGTCCCTGCCCTAGGGGATATTACCATTCAGAAACTAGACATGCATCAAGTCATTTGAAACAATAGAAGACAGAATTTTATTTAATAAGAAACAAAGGAGCCAGACAGATCTCCTGGTTGGACAGGGATGGGGAGTCTGGGTGGCTTCAGCATCTCACTGCCTACCCTGCCATTGCCTCAGAAGAAATGGGGGTTGGGGGTGAGGAGGAAAGCAGACAGGGAAGACTTCCTGGAAGAGTGACTCTGGAAAGCTGAAGGATTCAGAGGAAGCTGTTGGGGCCACTGACTGAGCTCTTAGTGTACAGTCTCCAAAGCCAAGGGCATTGAGCTGAATGAAACAGCAGCAGCAGAAGGGCAAAAGGGCTTCGGGTTGGATTTAAAAATATTTTTTATTATAATTTTTTAGAGACGAGGGTCTCACTATGTTGCCCAGGCTGGTCTCCAACTCCTGGCCTCAAGAGACCCTCCTGGCCAGGCACAGTGGCTCACGCCTGTAAACCAGCACTTTGGGAGGCCGAGGCGGGTGGATCCCCTGAGGTCAGGAGTTCGAGACCAGCCTAGCCAACACGGTATGAAACACTGTCTCTACTAAAAATACAAAAAATGAGGTGGGGGTGGTGGCAGGTGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATTACTTGAACCCAGAAGGCGAAGGTTGCAGTGAGGCGAGATGGGGCCATTGCACTCCAGCCTGGGCAACAAGAGTGAAACTCCATCTCAAAAAAAAAAAAAAAAAAAAAAAAAGGAGACCCTCCTGCCTCGGCTTACCAAAGTGTTGGGATTACAGACATAAGCCAGGTCGCCTGGCCCAAGCTAGATATTGAGGACTGCCAGATGGCAACAGTAGACAAGACACCCTAGAATGGCCCATCTAGAAGGAAGTAGATACCTTCTCTGTAGGGATTCAACAAGGGGGCAAAGTGATGGGCATCTTGGGTGAGGAACCCAGCCCGCGGAATGGGAAAGGGCTGGGACACTGGCTTTACAGCTGGGTTGGGAAAGGGATCTGATCCTTGAGTCAGCCCCTGTAAAATGGGGATACAGCAGGGCACGACGTCTGTTGGTCGCCTGGCACTGGGTCGGCCACCGAGGCCGCGCCTTGGCCTCTTTGTCCCCTCTGGCCACCGGCCCCAGGGAGCCCGCTCGGGAAGCAGCGCGGCCCCAGGAGGAAGGCGGCGCGGCCGAGGCCAGAGCCGGCGGCTACTGCGACCTTCCGGCTGGCGGGCGCGTTTCATGTTCCTGCCTCACCCTGGGCTGCACGGACTCAGATCGGGAAGGGGGAGGATCCATGGTAAAGGCCACGCCCCCTCTGGGACCTCGATTCCCCTTCTGGGCGGCCGAGGGATGGGCTGCAAGGAGTCAAATCCTCTTGGCCCTGGTGGTTGGATTTGGCCCCCTCCCTCCTAGGACTTTGGCATGCTGGCTTGGTCATGTCTGACTGTCTCTGTGCTGTCCCTGTCACCAGTCCGGAAGCTTCTCCCCTGTCCCCCACGCCCAACTTCGCTCAAGCCTGCCTCCCTCCCGCAGTGGGCATGTTTCTTTCTATGCCTCTCTCCCCTTTGCTATCTTTGCTCTCCCCCGGGCTCTCCCCTTCCTACCCTCTGCTTTCTCTGTTGTAAACAACAGCTGCTCACATCTGGGGGCCACCTCCCAGACATTCCTCATGGAGGAGGCAGTGCTGGCAAGCCACCCTGCCTCCTCCAGCCCTGACCTCTGGCAGTGGGTCCCAGCTCCCTGACCTCCTCTCTCTGGTGGATATAGCTAACACTTTTAAAAGTTGAGGCTTTTGGTTGTTTGTTTTTAATTGTTTTTCCCAAATCCACAGCTGACCTGAAAACTTGAGTTTTTTAAAAATACTTTTTTCTCCAAAATAGGCCAAATCCATTTAGAGCAACTCTTGCAAACTCAACAAAGTGTGAAGAACCAACTAAATGTCTCTCCTAATCCCACTTCCCAGCCATAACCACTGTTAACACGTTAGGTTTTCTCCTGGCCCTTTTCCTCTGTCTTTAAATATTTTCAAATATATGTCGTGTAACTTTTTCAAAGACAATGAAAAGATTATCATATAAAATATTGAGTTCAGTTGTCCCACTGGACAGAGAGGCAAACTGAGCCTATGCAGAGGATCAGAGTTGGCCAGGGCTGCACATCAACCTGACTCCCACCTCTTGGTCTAGACTCTTTACTGTAGTCCTGGTGCCCTCTGGGTTCTCTCTGGTAGAGACCATTGGCTTCACCAGGCAGGACCCTGGTGAATAATGTCAAGATGAAAGGGAGAAGCAGGGCTGGGCCGCTGGGGTGGGAGACCCTGACCCACAGAGATGGACAGTAGGGACCTCCCATGGCCAGAGCCTCAGCCTGGGGTTGGAGGGAACACACTCACGTAGGCCAAGTGCAGTGGGATTCCCAGGGCCTGGAGATGCAGGAAGACACTGCTGTTTACACTGAGGACCAGAAGCACCTCTCGGGGCCAGGTGCCATTTTGCTTGGATGCCTGGAGAGTCAGCTCCAGCTGTGACGGGCCCTGGGGGACACAGAGGAGAGACACACACAGTCCAGTCAGATTTGTATAGGTTGTGCCACCCAGACAGGCAGTGATGATTTGGATGCTTCCACTCCACTCTCCCTGCCTGCTCTGTCCACCCTCACCTCCCAGTGCCCAGGGTAGTGCCTGTCCCTCTGGCCATCCTCAGGGAATTCACAATAAACAAATGAAGGAGGTAAGCCCGGCAAATCTGAAGAGAGAAAA	G	A127824681T	ENG	NM_001114753.3(ENG):c.220-225_991+123del	noncoding	Pathogenic
9	127824676	GAAAAATGAGGCTCAGAGAGGCTGATGTACCTTGCCCAAGCTCACACAGAGGTGCTTCACCAACAGTGTGGCCACTGATCCAAGGGAGGGGAAGGGAAGGGAGGGGCAGGGGAAGGGTGCTCACCGCAGCTGGAGGCATGAAGTGAGACAATGCTGGCCAGCGGTAGCTCCACGAAGGATGCCACAATGCTGGCATTGAGCATCCGGGCCTCCCCCAGGAGGCCTTGAGGTGTGTCTGGGAGCTTGAAGCCACGAATGTTTTTCTCTGGAAAGATCTTGAAGGAGTATTCTCCAGTGGTCTAATGGTGGGGAGAGAGGCAGAACAGGGGGCCATGGACACAGTCTGTGCCACAGCAGGCCAGCCAGGGTTATGCCAGGCCTCGGTCCTGCTGTGTCCCCACTCCTGCTGCGTCTTCTGCCTGGCCCCTTCCCTCACGTATGGGCATAGGTGATTTGTCCTTCAGCTCAGCTCGGGGGTTCACCTTTCCAGGAAACTTCCCTGATCCAGAGGTTGGGAGTTTGGGTTTTGTGTCCCGGGAGCTGCGCACAACTCACCCAGATCTGCATGTTGTGGTTGGCGTCGATGAGCCAGGACACGTAGGGGGGACCCTGCAGGATGAGGACGGCATCGAGATCCCCGGGTGCGCAGCTCAGTTCCACCTTCACCGTCACCGTCCGGGGCCTGCGGGGAGACAGACGCGGATGGAACACTGAAGCGGACAGGCCAGGCGGGGAGCGAGGCCTGGCGTCGGGTGGGCGGCGGCTGCACTCTTACCTGGCCAGGTGTGGGTTTATGGGATAGGGATGGGACTGGGGCCAGGCTTGTGCCCAAAGGGAAGGGGCCCATAGGGGGCGTAGCCTAGAGTAGGAGAAAGCGACTGTGCTCTCACAGGGCTGCGGCGGGGCTGGGGCTGGGACTGGGGTGGGGCTTTATAAGGGACCGGAGAGGGGGCGGGGGGGGTCAGGGGGGTGGTCTCTCGGGGTGGGGACTAGTGTCAGGGGCGGGGCGAGAGCCATACCCGGCCGAGTGGCCCGGCAGGACCCTCAGGATGTGCGCCTCCTTGTGGCCGGCCACGCCTTCCAAGTGGCAGCCCCGGACCAAGGCTGGAGTACGCGGCCGCCACTCGAGCGTGCGGCCCATGTCCTGGCTGGCTTCCAGCATGCAGAAGGACAGTGACCCCTGGGCTGCAGAGACACGCGCACCTCAGTCCCTTCCCTCAGCAGCCCTGCACCTAACAGAGCCCCGCCCTCACCCACAGCCAAAGATAGTGGTGGGGCAGGCAGGACGGTGCTGCAGAGGGGGAGAGGCGTCAGAGGACCTAGGTTCGAACTTCCCTTCCACCACTCACCTGCCAAGTGACCCTGTGCAAGTCCCCGGGCCTCCGTGTGTTAACATAAGGGATGAGCCCATGACACATGTTAGGCTGCAGCCCCGAAACCACCCAGCAAGACCCGAAATTATAGATTTATCTGTGTACATGTACATGTTTATTGTCACCTCCCTCATCACAGTATCAGCTCCAGGAAGGCAGGGCCTGAGTGTGTCCCCAAGTGCCTAGCATGATAGGGCTTTGGCACATAGTAGATGCACAATAGATCGTATGAA	G	A127824679T	ENG	NM_001114753.3(ENG):c.523+229_991+123del	noncoding	Pathogenic
9	127824773	A	AGGGAGG	C127824782G	ENG	NM_000118.3(ENG):c.991+21_991+26dup	noncoding	Benign
9	127824773	A	AGGGGAG	A127824777G	ENG	NM_000118.3(ENG):c.991+26_991+27insCCCCTC	noncoding	Benign
9	127824807	GG	CT	G127824807C	ENG	NM_000118.3(ENG):c.983_984delinsAG:p.Ser328Ter	coding	Pathogenic
9	127824822	GAC	G	C127824824A	ENG	NM_001114753.3(ENG):c.967_968del:p.Val323fs	coding	Pathogenic
9	127824870	A	AT	G127824873T	ENG	NM_000118.3(ENG):c.920dup:p.Asn307fs	coding	Pathogenic
9	127824872	TGAGCATCC	T	A127824874G	ENG	NM_000118.3(ENG):c.911_918del:p.Arg304fs	coding	Pathogenic
9	127824886	T	TC	A127824892C	ENG	NM_000118.3(ENG):c.904dup:p.Glu302fs	coding	Pathogenic
9	127824890	CCA	G	C127824890G	ENG	NM_001114753.3(ENG):c.899_901delinsC:p.Leu300fs	coding	Pathogenic
9	127824909	GTC	G	C127824911G	ENG	NM_000118.3(ENG):c.880_881del:p.Asp294fs	coding	Pathogenic
9	127825257	CGAT	C	T127825260G	ENG	NM_001114753.3(ENG):c.787_789del:p.Ile263del	coding	Pathogenic
9	127825265	CAGGACACGTAGGGGGGACCCTGCAGGATG	C	A127825271G	ENG	NM_000118.3(ENG):c.753_781del:p.Ile252fs	coding	Pathogenic
9	127825268	G	GAC	G127825273A	ENG	NM_001114753.3(ENG):c.777_778dup:p.Ser260fs	coding	Pathogenic
9	127825270	CA	C	A127825271C	ENG	NM_000118.3(ENG):c.776del:p.Val259fs	coding	Pathogenic
9	127825270	CACGTAGGGGGG	C	G127825273C	ENG	NM_001114753.3(ENG):c.766_776del:p.Pro256fs	coding	Pathogenic
9	127825274	TA	T	A127825275G	ENG	NM_001114753.3(ENG):c.772del:p.Tyr258fs	coding	Pathogenic
9	127825275	A	AG	A127825282G	ENG	NM_000118.3(ENG):c.771dup:p.Tyr258fs	coding	Pathogenic
9	127825275	AG	A	G127825281A	ENG	NM_000118.3(ENG):c.771del:p.Tyr258fs	coding	Pathogenic
9	127825278	GGGGACCCTGCAGGATGA	G	G127825281A	ENG	NM_001114753.3(ENG):c.752_768del:p.Leu251fs	coding	Pathogenic
9	127825279	G	GGGACCCT	C127825288G	ENG	NM_001114753.3(ENG):c.761_767dup:p.Pro257fs	coding	Pathogenic
9	127825281	GA	G	A127825282C	ENG	NM_000118.3(ENG):c.765del:p.Tyr258fs	coding	Pathogenic
9	127825303	AT	A	T127825304C	ENG	NM_000118.3(ENG):c.743del:p.Asp248fs	coding	Pathogenic
9	127825310	TC	T	C127825314G	ENG	NM_000118.3(ENG):c.736del:p.Asp246fs	coding	Pathogenic
9	127825314	C	CG	T127825318G	ENG	NM_000118.3(ENG):c.732dup:p.Gly245fs	coding	Pathogenic
9	127825321	GCAGCT	G	C127825325T	ENG	NM_000118.3(ENG):c.721_725del:p.Ser241fs	coding	Pathogenic
9	127825331	T	TC	A127825334C	ENG	NM_000118.3(ENG):c.715dup:p.Glu239fs	coding	Pathogenic
9	127825334	AC	A	C127825336T	ENG	NM_000118.3(ENG):c.712del:p.Val238fs	coding	Pathogenic
9	127825693	ACCCGGCCGAGTGGCCCGGCAGGACCCTCAGGATGTGCGCCTCCTTGTGGCCGGCCACGCCTTCCAAGTGGCAGCCCCGGACCAAGGCTGGAGTACGCGGCCGCCACTCGAGCGTGCGGCCCATGTCCTGGCTGGCTTCCAGCATGCAGAAGGACAGTGACCCCTGGGC	A	C127825694T	ENG	NM_001114753.3(ENG):c.524-1_689+1del	noncoding	Pathogenic
9	127825697	GGCCGA	G	C127825699T	ENG	NM_000118.3(ENG):c.682_686del:p.Ser228fs	coding	Pathogenic
9	127825709	CG	C	G127825711C	ENG	NM_001114753.3(ENG):c.674del:p.Pro225fs	coding	Pathogenic
9	127825716	A	AC	T127825720C	ENG	NM_001114753.3(ENG):c.667dup:p.Val223fs	coding	Pathogenic
9	127825716	AC	A	C127825719T	ENG	NM_000118.3(ENG):c.667del:p.Val223fs	coding	Pathogenic
9	127825740	TGGCC	T	G127825745A	ENG	NM_000118.3(ENG):c.640_643del	coding	Pathogenic
9	127825766	GC	G	C127825770G	ENG	NM_001114753.3(ENG):c.617del:p.Gly206fs	coding	Pathogenic
9	127825780	C	CTGGA	G127825785T	ENG	NM_001114753.3(ENG):c.600_603dup:p.Ala202fs	coding	Pathogenic
9	127825787	A	ACG	G127825792C	ENG	NM_000118.3(ENG):c.593_594CG[3]:p.Thr200fs	coding	Pathogenic
9	127825796	CCACTCGAGCGT	AC	C127825796A	ENG	NM_001114753.3(ENG):c.577_588delinsGT:p.Thr193fs	coding	Pathogenic
9	127825803	AGCGTGCG	A	G127825806C	ENG	NM_000118.3(ENG):c.574_580del:p.Arg192fs	coding	Pathogenic
9	127825811	GCC	CA	G127825811C	ENG	NM_001114753.3(ENG):c.571_573delinsTG:p.Gly191fs	coding	Pathogenic
9	127825811	GC	G	C127825814A	ENG	NM_000118.3(ENG):c.572del:p.Gly191fs	coding	Pathogenic
9	127825821	T	TG	C127825824G	ENG	NM_001114753.2(ENG):c.562dup:p.Gln188fs	coding	Pathogenic
9	127825856	CT	C	T127825857G	ENG	NM_001114753.3(ENG):c.527del:p.Gln176fs	coding	Pathogenic
9	127826536	TG	T	G127826541T	ENG	NM_001114753.3(ENG):c.496del:p.Gln166fs	coding	Pathogenic
9	127826536	T	TG	T127826542G	ENG	NM_001114753.3(ENG):c.496dup:p.Gln166fs	coding	Pathogenic
9	127826541	GTCAT	G	T127826545G	ENG	NM_000118.3(ENG):c.488_491del:p.Asn163fs	coding	Pathogenic
9	127826563	GT	G	T127826564G	ENG	NM_000118.3(ENG):c.469del:p.Thr157fs	coding	Pathogenic
9	127826564	TG	T	G127826565A	ENG	NM_001114753.3(ENG):c.468del:p.Thr157fs	coding	Pathogenic
9	127826571	G	GC	T127826576C	ENG	NM_001114753.3(ENG):c.461dup:p.Ile156fs	coding	Pathogenic
9	127826635	AC	A	C127826640G	ENG	NM_000118.3(ENG):c.397del:p.Val133fs	coding	Pathogenic
9	127826640	CG	C	G127826645C	ENG	NM_000118.3(ENG):c.392del:p.Pro131fs	coding	Pathogenic
9	127826662	AG	A	G127826664C	ENG	NM_001114753.3(ENG):c.370del:p.Leu124fs	coding	Pathogenic
9	127829747	ACT	A	C127829748G	ENG	NM_001114753.3(ENG):c.298_299del:p.Ser100fs	coding	Pathogenic
9	127829769	C	CG	C127829774G	ENG	NM_001114753.3(ENG):c.277dup:p.Arg93fs	coding	Pathogenic
9	127829802	AG	A	G127829803A	ENG	NM_000118.3(ENG):c.244del:p.Leu82fs	coding	Pathogenic
9	127829817	TG	T	G127829818T	ENG	NM_000118.3(ENG):c.229del:p.Gln77fs	coding	Pathogenic
9	127829822	CG	C	G127829825C	ENG	NM_000118.3(ENG):c.224del:p.Pro75fs	coding	Pathogenic
9	127842834	C	CA	C127842836A	ENG	NM_000118.3(ENG):c.219+259dup	noncoding	Benign
9	127842989	GACTCAGCCACTGCCCCAGGGACAGCCACAAGGAAGGCACCCCTCACCCCATCTGCCTTGGAGCTTCCTCTGAGCCCCCACCCGACCCTGCCATGGGACACTCACCGTTGGGAACTCCAGGAAGAGGACATGGACTTCAAGGATGGCATTGGGGGCCTGAGCCACGCAGCCCTTCGAGACCTGGCTAGTGGTATATGTCACCTCGCCCCTCTCGGGGCCCACAGGCTGAAGGTCACAATGGACTGTTTCTGCAAGACCTGTTGGAGAAACATCCGGAAAGAGGCCAGGTGAGAATAAGGTGATGACAATGACTCCTACTTTCCAAACGTCTCCTAGGGACTTGACATGAGCTAACGGCTTTCCTGCATCATCACAGCCACCTTATGAGGTGGATATCATTATATTCGTTCCATGGATTAAAAAAAACCAAGGCTAGGAGAGGAAACGTCTCCTGCCCAAGGTCACAGCGCTACTACGTATAGGGTCGATGAATAGAAGGACACCCAGCTAAATTTAAATTTCAGATAAACAATGAGTGCATTTTTTTAAGTATTAGTATATTGCAAATATTGCATGGAACGTACTTATACTAAATTTTCATTGTTTATCTGAAATTCGGATTTCACTGGGCCCCATGTATATATGTGTGTGTGTATATATACATACACACACATATACATAGATCTACATATATACATACATATATACATATATAGATATACATATATACACCCACACATCCACATACATATATATATATATATATATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGATGGAGTTTTGCTCTTCTTGCCCAGGCTGGAGTGCAATGGTGTGATCTTGGCTCACCGCAACCTCCGCCTCCTGGGTTCAAATGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTATAGGCATGCACCACCACACCCAGCTAATTTTGTATTTTTAGTAGCGATGGGGTTTCTCCATGTTGCTCAGGTTGGTCTCGAACTCCTGGCCTCAGGTGATCTGCCCACTTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGTGCCCGGCCAGCCTCCTATATTTTTATTTTTTATTTATTTTTAAAAATTATTTTTTATTATTTATTTTATTTTATTTTTTTGAGACGGAGTTTTGCTCTTGTTGCCCAGGCTGGAGTGCAACAGTGTGATCTCGACTTACTGCAACCTCTGCCTCCTGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGAGCAGCTAGGATTACAGGCATGCACCACCATGCCTGGCTAATTTTTTGTATTTTTAGTAAAGATGGGGCTTCTCCATGTTGGTCAGGCTCGTCTTGAACTCCCAACCTCAGGTGATCCGCCTGCCTTGGCCTCCCAAAGTGCTAGGATTACAGGCATGAGCCACTGCGCCTGGCCTATTTTTTATTTTTTTGAGACAGACTCTGCTCTGTTGCTCAGGCTGGAGTGCAGTGGCAAAATCATAGCTCACTGCAGCCTCAGCCTCAACCTCCCAGGCTCAAGTGATCCTCCCACCTCGGCCTCCTGAGTAGCTGGAACTATAGGCATGCACCACCACATCCAGCTAATTTTTGCATTTTTATAGAGATGAGGTTTCACCATGTTGCTCAAGCTGGTATTGAACTCCTGGACTCAAGAGATCCTCCCACCTCGGCCTCCCAAAGTGTTGGGATTACAGGCATGAGCCACCACACCCGGCTGATTTTCATTTGATGTATCTGGCAACCCTAACTTCATGGCAGGGCCTAGGTGTGAACCCAAGTCTCCCTCCAGGTAAGGCAGGAGCTGAGCTCAGGAGACAAAGCTTCCCCTCTCTTGCCTCAAGGTGGTGGGAGGAATGGTCTGAAGGGGTTGAGAGTTCCCTAGCCCCAAGGGACAGGGCGAGCCGAGAAGGCGGCCCAGGTTTGGAGGCTGCCAGAGCAGACCGCAGAGCCCGGAAACACAGGTCCTGAGGGAAAGGAATGGAATTTCACCCTGACCCAGCAGGGTCGGAAAAGGAAATGAGGCTCCTACACCTCGTCCTGAGGAATGTGCCGGGGGAAGGGGGCTCCGGAGGAGGGAAGGAGGACAGAAGGGGAGACTGTTTGGAAGTTTGTGTCTCCATCTTGTCGCGCTCACTTCCTGTTTTCTTGGAGATCAAAGATGGGCGCGGAGAGACTGGCTTCATGTCCAGCCAAGGCCGGCTCAGAGGAGGGGGCAGGGAGGCTTCTTCTGAACCCTGGGCTGTCTGGAGCCTCACCGGCCTCCTTCCTCACCTTCCCACAGCACGTTGGGCTCTGGGCCCCAGAAGTCAGCAAAGGAAGTGAGATGGTCACCCCTTGCCATGGCAACGCCATTCCCAGCTCTGTCTTGGGAAGGAGAAGATCTGGATGAGGACTTCTGGCTGCCACGGGGGCCCAGGCCTTATATGTCGTCTCTCTGACCCTATCCTACATGTCCCAGGGACTCTGGAGTGCCTGGACATAGTGGCATTTTGGTTAAAAGCAAGCTCCCTGGAGCCAGGCTGACCTGGTTTGCCTCTCAGGCCCAATGCTTACCAGCTATGTGGCTCTGGTGAATGATTTCACCTCTTGGGGCTTCAATACCTGGTCTATAAAATGACAACAGAGCCCACATGATCCACAGAGGTGGCTGGGAGGACTCCATGAGACTGGGCACATGGCAATTCTTTCTTAAATTTCTATTTGTTTATTTTTCAGACAAGGTTGCCCTCTGTCTCCTGGGCTGGAGTGCAGTGGTGTGATAACAGCTCACTGCAGCCTTGAGCTGCTGGGTTCAAGCGATCCTCCTGCCTCAGCCTCCCAAGTAGTTGGGACTACAGTTGTGCGCCACCACGCCTGGCTAATTTTTTAAATTTTCAGTAGAGACTGGGTCTCACTATGTTGCTCAGGCTGGTCTCAAACTCCTGAGCTCAAGCAGTCCTCCCGCCTCAGCCTCCCAAAGTGCTAGGATTACAGGTGTGAGCCACCATGAGTGAGCCAGCATGCCTGGCCGGCAGCTTTCTCTTAATTACAATTATTTGACTGACTTCAGTCACTGTAGAATTGACTGTTCTAAGGGGTGGGGTGAAGTGGCGGGATGGGGTGGCCTCCAGGTGACGGTCCTCTGGGATGGAGAGGTCACTGGGATCTCCCTCACCCCAACAAAATCAAGGGCTGGTGCCATCTCCTGTCTCCAGTCCCTCTGACCCACCAGCCCCCATGTTCTCCCCACCCTCTCCTTTCCTCATCGGTGAGCGCAGGTTCCTTGGCTGTTACCTAGCTTAAGCCCCTCCTACTCAGATGGGGAGACTGAGGTCTGGAGGGACGGGACAGGTCAAAGTCTCACAGCACATGGTTGACCAGGCCGGGCCTCGGACCCGCGTCTCCCAACATGACCCAGTGTCTGGCCTGCAGATTATCGCAGCGCCTCCCTCCTTCCCTTTGGGACTTTCCCTGCCCCCTCCCCAGACTTCCAGGAACCCCAGTTCCTCCCGGATTGCTGGGGCCGCCTGGGGCCGCCTCCTCCATGCCGTCAGCCAGCGGGAGAGGCCACAAGCCTGGCCATTATGTAATGATCAGATAACAGGCCTGGCGGGGAGATCAGATAAGAGGTCCATTTATTTTGGGGCCTTTTCGAATCCTGGCCGCCCCCACCCCGCAGACGAGAATGGGGAGACAGGAGGGAGTGTGACGCCTGGGCCTGTCTCCCGGAGCCTGAGGCGGGCCCAGACCAAGTTGAAAACAATCCCCTGGCACCAAGGGAAACGCCAGGGCCTCCCGGGACTGGGTCAGAGGAGGAGCCGCTGGGGGCCTGGGTGACTGGAACCCCAAGTGAGAGACCCAGAAGCCACCTCCCACCACTGTCCCCTCTCCACCCTCGCCACCCATGTGCACACAGCACCTCCCAGATTTCCAGAGGGCTACCTTCAGCACCTTGGAGGATGATCAAGAAAAACAGCTCTGGAGCCAGATGGCCTGGATCAAATCCCAGCTCTGCCTCTTAAAATGCTGGTCACCTTGAGCAGAAGCCTAACCTCTCTGAGCCTCAGTTTCCCCATTTGCAGACCACCAATAATCACTGCAGATGCTCCCATCATGCTTACTGGGAGCCTAGGCAGCTTTACACGAGTGAACTCATTTGATCCTCACAGCAGCCTTGTGAGGTGGGCGGCGCTATTACACCCATGCACACTCCAGGAAACTGAAGACCAGGGCGGTTAAAGAAACTGAAGACCAGCTGCCCGAGGTGACCCAGCTACTAAGTGTCACGGCCTGGATTTAAACCCAGACAGTCTGGCTCCAGCAAGCAGCAGGCATTCACAGGCTGAGTGTGTCAGTTTGATGGGGTAACCCCTGTTGAGTGCCTGGTACTAAGTAGGTGCCCCAGACACAGAAGCTGTGAATATTATTTCATCATACTAGGACAGATACTTTTCTTCCCGCTGCCACCCCCCCTTTTCTTT	G	A127842990T	ENG	NM_001114753.3(ENG):c.68-4227_219+104del	noncoding	Pathogenic
9	127843148	AG	A	G127843149C	ENG	NM_001114753.3(ENG):c.164del:p.Ala55fs	coding	Pathogenic
9	127843166	GA	G	A127843167C	ENG	NM_001114753.3(ENG):c.146del:p.Val49fs	coding	Pathogenic
9	127843193	GC	G	C127843197T	ENG	NM_000118.3(ENG):c.119del:p.Gly40fs	coding	Pathogenic
9	127843211	AGGCT	A	G127843213A	ENG	NM_000118.3(ENG):c.98_101del:p.Gln33fs	coding	Pathogenic
9	127854288	CT	C	T127854290G	ENG	NM_000118.3(ENG):c.67del:p.Ser23fs	coding	Pathogenic
9	127854292	T	TG	C127854297G	ENG	NM_001114753.3(ENG):c.63dup:p.Thr22fs	coding	Pathogenic
9	127854304	TGCAGCTGGCCA	T	T127854310A	ENG	NM_000118.3(ENG):c.41_51del:p.Leu14fs	coding	Pathogenic
9	127854316	GC	G	C127854317A	ENG	NM_001114753.3(ENG):c.39del:p.Leu14fs	coding	Pathogenic
9	127868413	TGTC	T	G127868417C	AK1	NM_001318121.1(AK1):c.418_420GAC[1]:p.Asp141del	coding	Pathogenic
9	127872757	AC	A	C127872759T	AK1	NM_000476.2(AK1):c.139del:p.Val47fs	coding	Pathogenic
9	128222557	C	CCTTCCA	G128222559T	DNM1	NM_004408.4(DNM1):c.1090_1091insTTCCAC:p.Arg364_Ile365insLeuPro	coding	Pathogenic
9	128239524	TC	T	C128239529A	DNM1	NM_004408.4(DNM1):c.1493+14del	noncoding	Benign
9	128322879	TGTCCTCCGTCG	T	T128322881C	COQ4	NM_016035.5(COQ4):c.23_33del:p.Val8fs	coding	Pathogenic
9	128322923	C	CG	C128322926G	COQ4	NM_016035.5(COQ4):c.67dup:p.Ala23fs	coding	Pathogenic
9	128323142	GC	AA	G128323142A	COQ4	NM_016035.5(COQ4):c.197_198delinsAA:p.Arg66Gln	coding	Pathogenic
9	128332267	CCCA	C	C128332271A	COQ4	NM_016035.5(COQ4):c.518_520CCA[1]:p.Thr174del	coding	Pathogenic
9	128353427	GGTTTC	G	G128353428A	SLC27A4	NM_005094.4(SLC27A4):c.1211_1215del:p.Gly404fs	coding	Pathogenic
9	128360355	CAG	C	A128360358C	SLC27A4	NM_005094.4(SLC27A4):c.1797_1798AG[1]:p.Glu600fs	coding	Pathogenic/Likely_pathogenic
9	128508867	TTTCTC	T	T128508869A	GLE1	NM_001003722.1(GLE1):c.100-7_100-3del	noncoding	Pathogenic
9	128515490	CTTATTTT	C	T128515494A	GLE1	NM_001499.2(GLE1):c.322-35_322-29del	noncoding	Benign
9	128522635	TAAA	T	A128522656C	GLE1	NM_001499.2(GLE1):c.433-12_433-10delAAA	noncoding	Benign
9	128523697	G	GCT	G128523702C	GLE1	NM_001003722.2(GLE1):c.751_752dup:p.Gln252fs	coding	Pathogenic
9	128523764	TTAAGGTCGACCTGGCTGCCT	C	T128523764C	GLE1	NM_001003722.2(GLE1):c.815_835delinsC:p.Leu272fs	coding	Pathogenic
9	128527201	C	CA	T128527203A	GLE1	NM_001003722.2(GLE1):c.1153dup:p.Ile385fs	coding	Pathogenic
9	128533634	CA	C	A128533637C	GLE1	NM_001003722.2(GLE1):c.1437del:p.Lys479fs	coding	Pathogenic
9	128533815	GT	G	T128533817G	GLE1	NM_001003722.2(GLE1):c.1512del:p.Val505fs	coding	Pathogenic
9	128593053	TGA	T	A128593057T	SPTAN1	NM_001130438.3(SPTAN1):c.3215+15_3215+16del	noncoding	Benign/Likely_benign
9	128627412	ACAG	A	A128627414G	SPTAN1	NM_001130438.3(SPTAN1):c.6605_6607del:p.Gln2202del	coding	Pathogenic
9	128627422	CAGG	C	G128627428A	SPTAN1	NM_001130438.3(SPTAN1):c.6616_6618GAG[1]:p.Glu2207del	coding	Pathogenic
9	128632260	GGGACCAGCT	G	A128632272G	SPTAN1	NM_001130438.3(SPTAN1):c.6899_6907ACCAGCTGG[1]:p.2300_2302DQL[1]	coding	Pathogenic/Likely_pathogenic
9	128632260	G	GGGACCAGCT	G128632281A	SPTAN1	NM_001130438.3(SPTAN1):c.6899_6907ACCAGCTGG[3]:p.2300_2302DQL[3]	coding	Pathogenic
9	128632280	G	GGCATGC	A128632293G	SPTAN1	NM_001130438.3(SPTAN1):c.6917_6922GCATGC[3]:p.Arg2308_Met2309dup	coding	Pathogenic/Likely_pathogenic
9	128632721	AAATT	A	T128632728G	SPTAN1	NM_001130438.3(SPTAN1):c.7160+10_7160+13del	noncoding	Benign/Likely_benign
9	128633193	ATC	A	C128633197T	SPTAN1	NM_001130438.3(SPTAN1):c.7309-12_7309-11del	noncoding	Benign/Likely_benign
9	128633772	TCCAGGTCCTCAGCTTC	T	A128633775G	DYNC2I2	NM_052844.3(DYNC2I2):c.1567_1582del:p.Glu523fs	coding	Pathogenic
9	128633812	CTG	C	T128633815C	DYNC2I2	NM_052844.3(WDR34):c.1539_1540CA[1]:p.Thr514fs	coding	Pathogenic
9	128634284	CAG	C	G128634286T	DYNC2I2	NM_052844.3(DYNC2I2):c.1312_1313del:p.Leu438fs	coding	Pathogenic
9	128634798	CCT	C	T128634802C	DYNC2I2	NC_000009.12:g.128634800_128634801TC[1]	coding	Pathogenic
9	128656700	TG	T	G128656702C	DYNC2I2	NM_052844.3(DYNC2I2):c.26del:p.Pro9fs	coding	Pathogenic
9	128691171	AAAAG	A	A128691174C	SET	NM_003011.4(SET):c.78_81del:p.Lys26fs	coding	Pathogenic
9	128691221	TAGAC	T	A128691224G	SET	NM_003011.4(SET):c.126_129AGAC[1]:p.Arg44fs	coding	Pathogenic
9	128691909	CAA	C	A128691911C	SET	NM_003011.4(SET):c.185_186del:p.Lys62fs	coding	Pathogenic
9	128692902	TTC	T	T128692907C	SET	NM_003011.4(SET):c.414_415TC[2]:p.Ser140fs	coding	Pathogenic
9	128693756	TAGGAG	T	A128693760T	SET	NM_003011.4(SET):c.615_619del:p.Glu206fs	coding	Pathogenic
9	128693794	T	TTA	C128693797T	SET	NM_003011.4(SET):c.650_651dup:p.Gln218fs	coding	Pathogenic
9	128693804	ACTT	A	C128693805G	SET	NM_003011.4(SET):c.660_662del:p.Tyr220_Leu221delinsTer	coding	Pathogenic
9	128822601	CAGTA	C	A128822605G	ENDOG	NM_004435.2(ENDOG):c.889_892del:p.Lys297fs	coding	Benign
9	128947302	A	AT	A128947304T	DOLK	NM_014908.4(DOLK):c.1dup:p.Met1fs	coding	Benign/Likely_benign
9	128969503	CTTAT	C	A128969506G	NUP188	NM_015354.3(NUP188):c.904_907del:p.Ile302fs	coding	Pathogenic
9	129006322	A	AC	G129006328C	NUP188	NM_015354.3(NUP188):c.5032dup:p.Arg1678fs	coding	Pathogenic
9	129814061	TCTC	T	C129814065A	TOR1A	NM_000113.3(TOR1A):c.907_909delGAG:p.Glu303del	coding	Pathogenic/Likely_pathogenic
9	130454318	AG	A	G130454319A	ASS1	NM_054012.4(ASS1):c.120del:p.Lys41fs	coding	Pathogenic
9	130458542	GC	G	C130458545A	ASS1	NM_054012.4(ASS1):c.319del:p.Gln107fs	coding	Pathogenic/Likely_pathogenic
9	130466752	TTC	T	C130466754A	ASS1	NM_054012.4(ASS1):c.450_451del:p.Phe150fs	coding	Pathogenic/Likely_pathogenic
9	130466786	T	TG	A130466789G	ASS1	NM_054012.4(ASS1):c.484dup:p.Glu162fs	coding	Pathogenic
9	130480442	GT	G	T130480443C	ASS1	NM_054012.4(ASS1):c.832del:p.Ser278fs	coding	Pathogenic
9	130489385	CG	C	G130489386A	ASS1	NM_054012.4(ASS1):c.892del:p.Glu298fs	coding	Pathogenic/Likely_pathogenic
9	130494958	CA	C	A130494960G	ASS1	NM_054012.4(ASS1):c.1064del:p.Lys355fs	coding	Pathogenic
9	130499495	C	CTCCTTGCAGCATGAACGTGCAGGGTGATTATGAGCCAACTGATGCCACCGGGTTCATCAACATCAAT	C130499566T	ASS1	NM_054012.4(ASS1):c.1128-6_1188dup	noncoding	Pathogenic
9	130681605	TCGCCGCCGCCGCCGCCGC	T	C130681624G	PRDM12	NM_021619.3(PRDM12):c.1041_1043CGC[6]:p.Ala354_Ala359del	coding	Benign
9	130681605	TCGCCGCCGCCGCCGC	T	C130681627G	PRDM12	NM_021619.3(PRDM12):c.1041_1043CGC[7]:p.Ala355_Ala359del	coding	Benign
9	130681605	TCGCCGCCGC	T	C130681633G	PRDM12	NM_021619.3(PRDM12):c.1041_1043CGC[9]:p.Ala357_Ala359del	coding	Benign
9	130681605	TCGCCGC	T	C130681636G	PRDM12	NM_021619.3(PRDM12):c.1041_1043CGC[10]:p.Ala358_Ala359del	coding	Benign
9	130681605	T	TCGCCGCCGCCGC	G130681642C	PRDM12	NM_021619.3(PRDM12):c.1041_1043CGC[16]:p.Ala356_Ala359dup	coding	Benign
9	130681605	T	TCGCCGC	G130681642C	PRDM12	NM_021619.3(PRDM12):c.1041_1043CGC[14]:p.Ala358_Ala359dup	coding	Benign
9	130681605	T	TCGC	G130681642C	PRDM12	NM_021619.3(PRDM12):c.1041_1043CGC[13]:p.Ala359dup	coding	Benign
9	131026432	CC	AG	C131026432A	LAMC3	NM_006059.4(LAMC3):c.521_522delinsAG:p.Pro174Gln	coding	Benign/Likely_benign
9	131036256	CTG	C	T131036259A	LAMC3	NM_006059.4(LAMC3):c.901_902TG[1]:p.Cys301_Glu302delinsTer	coding	Pathogenic
9	131038919	CAGCACAG	C	A131038920G	LAMC3	NM_006059.4(LAMC3):c.1033_1039del:p.Ser345fs	coding	Pathogenic
9	131067050	GC	AG	G131067050A	LAMC3	NM_006059.4(LAMC3):c.2438_2439delinsAG:p.Ser813Lys	coding	Benign
9	131067785	T	TG	T131067787G	LAMC3	NM_006059.4(LAMC3):c.2594-292dup	noncoding	Benign
9	131504327	C	CCGCG	G131504332C	POMT1	NM_001077365.2(POMT1):c.110_113dup:p.Val40fs	coding	Pathogenic
9	131506100	G	GT	C131506110T	POMT1	NM_001077365.2(POMT1):c.123-5dup	noncoding	Benign/Likely_benign
9	131506100	G	GTT	C131506110T	POMT1	NM_001077365.2(POMT1):c.123-6_123-5dup	noncoding	Benign/Likely_benign
9	131507500	TG	T	G131507501T	POMT1	NM_001077365.2(POMT1):c.414del:p.Leu138_Leu139insTer	coding	Pathogenic
9	131507502	TTGA	T	A131507505C	POMT1	NM_001077365.2(POMT1):c.418_420del:p.Met140del	coding	Pathogenic
9	131509781	CAG	C	A131509782G	POMT1	NM_001077365.2(POMT1):c.579_580del:p.Val195fs	coding	Pathogenic
9	131509902	GC	G	C131509903A	POMT1	NM_001077365.2(POMT1):c.606del:p.Ile203fs	coding	Pathogenic
9	131510057	CA	C	A131510058G	POMT1	NM_001077365.2(POMT1):c.699+62del	coding	Pathogenic
9	131512953	T	TC	T131512956C	POMT1	NM_001077365.2(POMT1):c.1083-284dup	noncoding	Benign
9	131513246	CT	C	T131513247G	POMT1	NM_001077365.2(POMT1):c.1091del:p.Leu364fs	coding	Pathogenic
9	131513332	G	GT	G131513334T	POMT1	NM_007171.3(POMT1):c.1241+2dup	noncoding	Pathogenic
9	131515443	CCCT	C	C131515444G	POMT1	NM_001077365.2(POMT1):c.1194_1196del:p.Leu399del	coding	Pathogenic
9	131515444	CCT	C	C131515445G	POMT1	NM_001077365.2(POMT1):c.1195_1196del:p.Leu399fs	coding	Pathogenic
9	131515445	CT	C	T131515446G	POMT1	NM_001077365.2(POMT1):c.1196del:p.Leu399fs	coding	Pathogenic
9	131518948	T	TA	C131518950A	POMT1	NM_001077365.2(POMT1):c.1478dup:p.Tyr493Ter	coding	Pathogenic
9	131520149	AC	A	C131520152T	POMT1	NM_001077365.2(POMT1):c.1657del:p.Leu553fs	coding	Pathogenic
9	131520164	AT	A	T131520166G	POMT1	NM_001077365.2(POMT1):c.1671del:p.Ile557fs	coding	Pathogenic
9	131521490	AT	A	T131521491G	POMT1	NM_001077365.2(POMT1):c.1825+19del	noncoding	Benign
9	131522050	C	CCTGGCTGCGCTGGGTG	G131522074C	POMT1	NM_001077365.2(POMT1):c.1837_1852dup:p.Gly618fs	coding	Pathogenic
9	131522970	T	TG	C131522973G	POMT1	NM_001077365.2(POMT1):c.2044dup:p.Ala682fs	coding	Pathogenic
9	131523025	C	CG	A131523030G	POMT1	NM_001077365.2(POMT1):c.2101dup:p.Asp701fs	coding	Pathogenic
9	131523037	A	ACT	G131523043T	POMT1	NM_001077365.2(POMT1):c.2111_2112TC[3]:p.Pro706fs	coding	Pathogenic
9	131523037	ACT	A	T131523041G	POMT1	NM_001077365.2(POMT1):c.2111_2112TC[1]:p.Ser705fs	coding	Pathogenic
9	131523069	G	GGAAA	C131523076A	POMT1	NM_001077365.2(POMT1):c.2144_2147dup:p.Asp716fs	coding	Pathogenic
9	132198125	C	CT	C132198129T	NTNG2	NM_032536.4(NTNG2):c.376dup:p.Ser126fs	coding	Pathogenic
9	132269711	TAA	T	A132269717G	SETX	NM_015046.7(SETX):c.7200-11_7200-10del	noncoding	Benign
9	132269711	T	TA	G132269719A	SETX	NM_015046.7(SETX):c.7200-16dup	noncoding	Benign/Likely_benign
9	132275353	TTCTTTTG	T	T132275359A	SETX	NM_015046.7(SETX):c.6996_7002del:p.Asp2332fs	coding	Pathogenic
9	132277143	TTCTG	T	C132277153A	SETX	NM_015046.5(SETX):c.6848_6851delCAGA:p.Thr2283Lysfs	coding	Pathogenic/Likely_pathogenic
9	132277156	TA	T	A132277168G	SETX	NM_015046.7(SETX):c.6843-5del	noncoding	Benign
9	132278070	CTATT	C	A132278072G	SETX	NM_015046.7(SETX):c.6838_6841del:p.Asn2280fs	coding	Pathogenic
9	132288343	ACT	A	C132288346T	SETX	NM_015046.7(SETX):c.6213_6214AG[1]:p.Glu2072fs	coding	Pathogenic
9	132297005	GTTTCTATTGC	G	A132297011T	SETX	NM_015046.7(SETX):c.5821_5830del:p.Ala1941fs	coding	Pathogenic
9	132298067	C	CA	T132298069A	SETX	NM_015046.7(SETX):c.5781+12dup	noncoding	Benign
9	132298268	CTT	C	T132298269G	SETX	NM_015046.7(SETX):c.5591_5592del:p.Gln1864fs	coding	Pathogenic/Likely_pathogenic
9	132300627	TACTG	T	T132300634G	SETX	NM_015046.7(SETX):c.5547_5548+2del	noncoding	Pathogenic
9	132300812	CAAG	C	A132300819T	SETX	NM_015046.7(SETX):c.5375-18CTT[2]	noncoding	Benign
9	132311819	TTCTC	T	C132311823A	SETX	NM_015046.7(SETX):c.5306_5307GA[1]:p.Glu1770fs	coding	Pathogenic/Likely_pathogenic
9	132326333	AG	A	G132326334T	SETX	NM_015046.7(SETX):c.5264del:p.Thr1755fs	coding	Pathogenic
9	132326354	G	GA	C132326362A	SETX	NM_015046.7(SETX):c.5243dup:p.Leu1750fs	coding	Pathogenic
9	132326375	T	TC	A132326378C	SETX	NM_015046.7(SETX):c.5222dup:p.Asp1742fs	coding	Pathogenic
9	132326918	G	GT	G132326925T	SETX	NM_015046.7(SETX):c.4679dup:p.Asn1560fs	coding	Pathogenic
9	132328198	C	CT	A132328205T	SETX	NM_015046.7(SETX):c.3399dup:p.Gly1134fs	coding	Pathogenic
9	132328523	T	TTCA	G132328542T	SETX	NM_015046.7(SETX):c.3057_3059TGA[7]:p.Asp1024dup	coding	Benign/Likely_benign
9	132328626	ACTTTC	A	C132328631G	SETX	NM_015046.7(SETX):c.2967_2971del:p.Arg989fs	coding	Pathogenic
9	132329207	CTTCT	C	C132329210A	SETX	NM_015046.7(SETX):c.2387_2390del:p.Lys796fs	coding	Pathogenic
9	132331386	CA	C	A132331388G	SETX	NM_015046.7(SETX):c.900del:p.Gly301fs	coding	Pathogenic
9	132346405	CA	C	A132346407T	SETX	NM_015046.7(SETX):c.243del:p.Ile81fs	coding	Pathogenic
9	132895945	GA	G	A132895948G	TSC1	NM_000368.4(TSC1):c.*289del	noncoding	Benign
9	132896600	C	CGCT	C132896621T	TSC1	NM_000368.5(TSC1):c.3127_3129dupAGC	coding	Benign/Likely_benign
9	132896600	CGCT	C	T132896618C	TSC1	NM_001162426.2(TSC1):c.3109_3111AGC[5]:p.Ser1042del	coding	Benign
9	132897464	CA	C	A132897468G	TSC1	NM_000368.5(TSC1):c.2771del:p.Leu924fs	coding	Pathogenic
9	132897514	GT	G	T132897519G	TSC1	NM_000368.5(TSC1):c.2721del:p.Lys907fs	coding	Pathogenic
9	132897519	T	TGG	A132897523G	TSC1	NM_000368.4(TSC1):c.2715_2716dup:p.Gln906fs	coding	Pathogenic
9	132897559	TTC	T	C132897561G	TSC1	NM_000368.5(TSC1):c.2675_2676del:p.Arg892fs	coding	Pathogenic
9	132897561	CTGTT	C	G132897563T	TSC1	NM_000368.5(TSC1):c.2671_2674del:p.Asn891fs	coding	Pathogenic
9	132897563	G	GT	C132897571T	TSC1	NM_000368.5(TSC1):c.2672dupA	coding	Pathogenic
9	132897563	GT	G	T132897570C	TSC1	NM_000368.5(TSC1):c.2672del:p.Asn891fs	coding	Pathogenic
9	132897595	TC	T	C132897596A	TSC1	NM_000368.5(TSC1):c.2640del:p.Met880fs	coding	Pathogenic
9	132897612	T	TAA	G132897613A	TSC1	NM_000368.4(TSC1):c.2626-3_2626-2insTT	noncoding	Benign
9	132897613	GAAA	G	A132897629G	TSC1	NM_000368.5(TSC1):c.2626-6_2626-4del	noncoding	Benign
9	132897613	GAA	G	A132897630G	TSC1	NM_000368.5(TSC1):c.2626-5_2626-4del	noncoding	Benign
9	132897613	GA	G	A132897631G	TSC1	NM_000368.5(TSC1):c.2626-4del	noncoding	Benign
9	132897613	G	GAA	G132897632A	TSC1	NM_000368.4(TSC1):c.2626-21_2626-20dup	noncoding	Benign
9	132897613	G	GA	G132897632A	TSC1	NM_000368.4(TSC1):c.2626-21dup	noncoding	Benign
9	132900757	GA	G	A132900758G	TSC1	NM_000368.5(TSC1):c.2582delT	coding	Pathogenic
9	132900770	TC	T	C132900774A	TSC1	NM_001162426.2(TSC1):c.2566del:p.Glu856fs	coding	Pathogenic
9	132900773	CCAAGAACCAACAGCTGCCTGTT	C	C132900781T	TSC1	NM_000368.4(TSC1):c.2545_2566del:p.Asn849fs	coding	Pathogenic
9	132900777	GAACC	G	C132900781A	TSC1	NM_001162426.2(TSC1):c.2556_2559del:p.Leu852fs	coding	Pathogenic
9	132900821	GACTC	G	C132900825G	TSC1	NM_000368.4(TSC1):c.2515_2518del:p.Glu839fs	coding	Pathogenic
9	132900827	CTGTT	C	T132900830A	TSC1	NM_000368.5(TSC1):c.2509_2512del:p.Asn837fs	coding	Pathogenic
9	132900829	G	GT	G132900833T	TSC1	NM_000368.4(TSC1):c.2510dup:p.Asn837fs	coding	Pathogenic
9	132901487	ATGACACAGACACTCAAGTAATCTATTTCTTTAACCTGTCTGAAGGAAGAATGTTAGCAAATGGTGTTTCAGCAGATTCAGGTCTGCCTCATTTCTTCTTACCTTTTGGGAAACCTGACTGAGCAGCAGCTCAGTGTGACACACCTTGTTGTTGGCCTTCTTCAGTTCTATCCGCAGCTCCGCAATCATGTTCCTGCAGTCCTCCAGCTTCGTCTGCCCAAAGAGACGTGGACATGAAGTTTGAGGAACACCAACAGGCCAGATCACAGGCCTACCTAGCCACCAGCCCACAGAGGACTGGGAATGCCTTAGCTCAACGGCTCTACTTTCTTGGGCCCTCAGAATTTGATGTCTTAGTTTTAAAAAGTAAGTTATGGTTGATTTCTGAGTTCCTTACTGTTTAACAAAAGAAAAAAAGAGACCTTAGATCCTCAGTTCCCAAACTGTGCACCAAAGAGCCCTGAGGCTACACAGCAAACTCACAGGGATGCTGCAGAAAGATTCTGAATTTTCGAGGGAGACGCAGCGCCATCTGTTGGACACTCTGTGAATTACTAACTGGCTGGAAATGATGCTGTGTCTGTGGATGACGTCTTTGTGAAGCCGGGTTTTTTTGGGTGCAGTGATACAAAGCACCACAAGGAAAACCAGTGTGGAACAGGAAATGAGGGTGTCACTGTCCACTCTGATTTCAAGGTCTGAGATACCATGCAGTGCCCAATAGGTGCACACGAGGCATTAGTAATTGCAATTATTTTTTTAAAAATTAATTTATGTGTATTATCTGTGAACAGCTACTAAGTTCTTAGGACATTCGTACTCACTAAGTTATTCAGATCTACTTAATGAGCAGAACTGTTAACTGTTTCCTTTTGGCTGCAGAAAAAAAAATGACTGAGACACTAAGGGAGCTACTATATGAACCAACAAAGTTGGGGAACCTCTGTCCTAAGTAAGATTCACCTGCCATGAAGAATTTCTGCCATGATTTCAGAGAGAAAAGCATTCAGCTTAGTAAAGCTGAACAAGTCAAGGACACCCAGGGAAACTGACTGCCTCCCTCCCCACTGCTCTCCGGCATTCTCGCAGTTGGCTTTGCCTGGTGCTGCAGTTTATACCTGTAATTCCTGGCTCTGGTTGTAGAATTCCTCTCGGTCATGCTGCAGCTGTCTGATCTGGCTGTGGAGCTTGGTTACCATAGTGTCACGCTGCTCCTGGAGCTGATTGTATCTAGCTTGTTCTTTCTGCAGACTAACCTTCCACATCTGGATGTCCTTCTCTTGTAACTTCAACTGATCTTTCTAGCAGAGACCAGAAATGTCATCATTTTAGCTGTCTTCCAACACAGGCAATTTAACACACACTGCGAACATTTCATCTGAATAGTCATAAGCTACCCTGAAAATGTAACTAACTACAGACCAAAACTCTTAGAGCTCACTACTGTCTTACTTGGCCTTAGGTCAAGGTTTTCCAAATTTTACATTAAGCAAATGGATCTTAAGTTGCTTAAATAAATCTTCTCAGGGATCAGTTTGCTTCCAATACTTTCAAAAGTC	A	A132901492T	TSC1	NM_000368.5(TSC1):c.2209-258_2502+101del	noncoding	Pathogenic
9	132901600	CCTGA	C	C132901605G	TSC1	NM_001162426.2(TSC1):c.2480_2483TCAG[1]:p.Ser828fs	coding	Pathogenic
9	132901650	AG	A	G132901651T	TSC1	NM_000368.5(TSC1):c.2440del:p.Glu813_Leu814insTer	coding	Pathogenic
9	132902017	ATCTGTTGGACACTCTGTGAATTACTAACTGGCTGGAAATGATGCTGTGTCTGTGGATGACGTCTTTGTGAAGCCGGGTTTTTTTGGGTGCAGTGATACAAAGCACCACAAGGAAAACCAGTGTGGAACAGGAAATGAGGGTGTCACTGTCCACTCTGATTTCAAGGTCTGAGATACCATGCAGTGCCCAATAGGTGCACACGAGGCATTAGTAATTGCAATTATTTTTTTAAAAATTAATTTATGTGTATTATCTGTGAACAGCTACTAAGTTCTTAGGACATTCGTACTCACTAAGTTATTCAGATCTACTTAATGAGCAGAACTGTTAACTGTTTCCTTTTGGCTGCAGAAAAAAAAATGACTGAGACACTAAGGGAGCTACTATATGAACCAACAAAGTTGGGGAACCTCTGTCCTAAGTAAGATTCACCTGCCATGAAGAATTTCTGCCATGATTTCAGAGAGAAAAGCATTCAGCTTAGTAAAGCTGAACAAGTCAAGGACACCCAGGGAAACTGACTGCCTCCCTCCCCACTGCTCTCCGGCATTCTCGCAGTTGGCTTTGCCTGGTGCTGCAGTTTATACCTGTAATTCCTGGCTCTGGTTGTAGAATTCCTCTCGGTCATGCTGCAGCTGTCTGATCTGGCTGTGGAGCTTGGTTACCATAGTGTCACGCTGCTCCTGGAGCTGATTGTATCTAGCTTGTTCTTTCTGCAGACTAACCTTCCACATCTGGATGTCCTTCTCTTGTAACTTCAACTGATCTTTCTAGCAGAGACCAGAAATGTCATCATTTTAGCTGTCTTCCAACACAGGCAATTTAACACACACTGCGAACATTTCATCTGAATAGTCATAAGCTACCCTGAAAATGTAACTAACTACAGACCAAAACTCTTAGAGCTCACTACTGTCTTACTTGGCCTTAGGTCAAGGTTTTCCAAATTTTACATTAAGCAAATGGATCTTAAGTTGCTTAAATAAATCTTCTCAGGGATCAGTTTGCTTCCAATACTTTCAAAAGTCTGACTACCAACACTGGAATAAAATCTCTCAAACATGGTACTAAGTTCACTGAAACGATGAGCATTTACTGAATGCTTGCAGTGTGCTGGGCGCTCAGCAAGGGCTTACCGACATAATTTCTTTTAACCATCACAACTTAAAGAGCAGGTGCTGCTATTGTTATTTCCATTTTATAGCATGGCTAACAGAGGCTTCAAGAGGCCACGTTACTTTTCTAAGGTAACACTGGTAGAGCCAAGATTCAAACTCCAGGCCTGACTGGCTTCACACCCGCTGTACAATACACGCTTCAGTTTTGTGCCATGAAATAGCTTTACAAGAGTTGGTTTTACATTTGGAGAAATAAAATCATCTTCTGACCCTTCATCATCATGGCCAGTTACATGCAAACATACACACACAAAATCACTTGTCCCCACGGTTTCTGAGAATTATGAGGGAATTCCGAGGTGTCACCATTCATGTCTTAATCTCAAGCGACCTGCCCAAAGGAGTGGGAAGGACTGGGAACTCTGACCTCCTCGGCTGCTGTGCTTTATAAGCTATCATGCTGACCCAAAACAAAACAAAAAGCAAGCTCCACCTGTCCCCTCCCCAGTCCTCACCATGGCAGCATTATGTTCCTCCAGAGCTGCTGCTTTGATCACCTTGCGGAGGAGCCGCCTGTTCCGGAGGGCATGCTGCTGCCTCTTAAAACGCTCATAGAGTAACTGGTTGTGCAGTAAAAGCAACTGGTCTCGGAGGGTGCGGATCTCATCTGAAGGAGGAGAGCCTGATTGTAAAGCAGAGGGAGGGTGGCAGAAATGCCTTTTACAGATGGTTCAATCAAGCCCCCTTCCCATGTGTTGTTAGCTTAACAAACACAATTCTTTAAAAACAAATCACCACTCTCTTTGCAAATGACCACTTGACTCCCAGCAACAGCAGGGGGGAAAGTATGGACTATGTGTCTCCCCCGTGAAGGAATGCAAAAGGTCATATCATGTGGGATGACTCTTTGAGAGCCTGCTTTCCTTTCCCCACAAATCTAGATCACGCATTTCAGATGCCCTGTTTCTCAAGACACTTCCTTCGCTGTGTGTTCTCCCCCAGGAAGATGCTTCACTCTGGTCTTCTCCAGGGAAGC	A	T132902018C	TSC1	NM_000368.5(TSC1):c.2041+240_2392-319del	noncoding	Pathogenic
9	132902635	C	CTCTCGGTCATGCTGCAGCTG	G132902659C	TSC1	NM_000368.4(TSC1):c.2341_2360dup:p.Glu787fs	coding	Pathogenic
9	132902635	CT	C	T132902636C	TSC1	NM_000368.5(TSC1):c.2360del:p.Glu787fs	coding	Pathogenic
9	132902652	GCTGT	G	T132902656A	TSC1	NM_000368.4(TSC1):c.2340_2343del:p.Arg780fs	coding	Pathogenic
9	132902665	GCTGTGGAGCT	G	C132902666T	TSC1	NM_000368.5(TSC1):c.2321_2330del:p.Lys774fs	coding	Pathogenic
9	132902703	G	GA	G132902704A	TSC1	NM_000368.4(TSC1):c.2292_2293insT:p.Gln765fs	coding	Pathogenic
9	132902746	C	CCA	T132902751C	TSC1	NM_000368.5(TSC1):c.2248_2249dup:p.Trp750fs	coding	Pathogenic
9	132902760	CCTTCT	C	C132902764G	TSC1	NM_000368.4(TSC1):c.2231_2235del:p.Glu744fs	coding	Pathogenic
9	132903678	T	TGCTG	C132903683G	TSC1	NM_000368.4(TSC1):c.2177_2180dup:p.Ala728fs	coding	Pathogenic
9	132903693	CT	C	T132903695G	TSC1	NM_000368.4(TSC1):c.2165del:p.Lys722fs	coding	Pathogenic
9	132903697	CG	C	G132903699A	TSC1	NM_000368.5(TSC1):c.2161del:p.Arg721fs	coding	Pathogenic
9	132903699	GA	G	A132903700G	TSC1	NM_000368.5(TSC1):c.2159del:p.Leu720fs	coding	Pathogenic
9	132903702	GA	G	A132903703G	TSC1	NM_000368.4(TSC1):c.2156del:p.Leu719fs	coding	Pathogenic
9	132903706	C	CGGCT	C132903708G	TSC1	NM_000368.5(TSC1):c.2152_2153insAGCC:p.Arg718fs	coding	Pathogenic
9	132903713	TC	T	C132903715G	TSC1	NM_001162426.2(TSC1):c.2142del:p.Asn715fs	coding	Pathogenic
9	132903738	A	AAAACGCTCATAGAGTAACTGGTTGTGCAGTAAAAGCAACTGGTCTC	G132903785A	TSC1	NM_000368.4(TSC1):c.2075_2120dup:p.Phe707delinsLeuArgProValAlaPheThrAlaGlnProValThrLeuTer	coding	Pathogenic
9	132903746	CAT	C	T132903748G	TSC1	NM_001162426.2(TSC1):c.2108_2109del:p.Leu702_Tyr703insTer	coding	Pathogenic
9	132903750	GAGT	AAACGCTCTTAAAACAA	G132903750A	TSC1	NM_000368.4(TSC1):c.2106_2109delinsTTGTTTTAAGAGCGTTT:p.Leu702fs	coding	Pathogenic
9	132903752	G	GT	A132903754T	TSC1	NM_000368.5(TSC1):c.2106dup:p.Leu703fs	coding	Pathogenic
9	132903752	G	GTAAC	G132903758A	TSC1	NM_001162426.2(TSC1):c.2100_2103dup:p.Leu702fs	coding	Pathogenic
9	132903753	T	TAG	A132903755G	TSC1	NM_000368.4(TSC1):c.2105_2106insCT:p.Leu702fs	coding	Pathogenic
9	132904428	TC	T	C132904429G	TSC1	NM_001162426.2(TSC1):c.2020del:p.Asp674fs	coding	Pathogenic
9	132904445	T	TAAAGGCAACCTAAA	G132904458A	TSC1	NC_000009.12:g.132904457_132904458insAAAAAGGCAACCTA	coding	Pathogenic
9	132904447	AAGGC	A	G132904449A	TSC1	NM_000368.4(TSC1):c.2001_2004del:p.Leu667fs	coding	Pathogenic
9	132905618	G	GT	A132905620T	TSC1	NM_000368.5(TSC1):c.1959dup:p.Gln654fs	coding	Pathogenic
9	132905618	GTATC	CCCTGA	G132905618C	TSC1	NM_000368.5(TSC1):c.1956_1960delinsTCAGGG:p.Ile653fs	coding	Pathogenic
9	132905669	CCT	C	C132905672G	TSC1	NM_001162426.2(TSC1):c.1902_1903AG[1]:p.Glu635fs	coding	Pathogenic
9	132905672	CTG	C	G132905676T	TSC1	NM_000368.5(TSC1):c.1903_1904delAC	coding	Pathogenic
9	132905681	CT	C	T132905685G	TSC1	NM_000368.4(TSC1):c.1896del:p.Gly633fs	coding	Pathogenic
9	132905686	GCTTT	G	C132905691A	TSC1	NM_000368.5(TSC1):c.1884_1887AAAG[1]:p.Lys630fs	coding	Pathogenic
9	132905700	CTCCTCAGTCT	C	C132905705G	TSC1	NM_000368.5(TSC1):c.1868_1877del:p.Lys623fs	coding	Pathogenic
9	132905718	GAC	G	C132905720A	TSC1	NM_000368.5(TSC1):c.1858_1859del:p.Val620fs	coding	Pathogenic
9	132905728	TG	T	G132905731C	TSC1	NM_000368.4(TSC1):c.1849del:p.His617fs	coding	Pathogenic
9	132905796	CA	C	A132905797C	TSC1	NM_000368.4(TSC1):c.1781del:p.Val594fs	coding	Pathogenic
9	132905819	TA	T	A132905820C	TSC1	NM_000368.4(TSC1):c.1758del:p.Pro585_Cys586insTer	coding	Pathogenic
9	132905850	CA	C	A132905853G	TSC1	NM_000368.4(TSC1):c.1727del:p.Leu576fs	coding	Pathogenic
9	132905853	AG	A	G132905854A	TSC1	NM_000368.4(TSC1):c.1724del:p.Ser575fs	coding	Pathogenic
9	132905855	A	AAGTCTGGC	T132905865G	TSC1	NM_000368.4(TSC1):c.1715_1722dup:p.Ser575fs	coding	Pathogenic
9	132905864	AT	A	T132905866C	TSC1	NM_000368.4(TSC1):c.1713del:p.Glu571fs	coding	Pathogenic
9	132905868	CCT	C	C132905869G	TSC1	NM_001162426.2(TSC1):c.1705_1706del:p.Arg569fs	coding	Pathogenic
9	132905874	TCC	T	C132905876G	TSC1	NM_000368.4(TSC1):c.1702_1703del:p.Gly568fs	coding	Pathogenic
9	132905875	CCCGCAGGGCTTTCATCAGCACTG	C	T132905885A	TSC1	NM_000368.4(TSC1):c.1680_1702del:p.Ser561fs	coding	Pathogenic
9	132905880	AG	A	G132905883C	TSC1	NM_000368.4(TSC1):c.1697del:p.Pro566fs	coding	Pathogenic
9	132905881	G	GGA	G132905883A	TSC1	NM_000368.4(TSC1):c.1696_1697insTC:p.Pro566fs	coding	Pathogenic
9	132905963	AG	A	G132905965A	TSC1	NM_000368.5(TSC1):c.1614del:p.Ser539fs	coding	Pathogenic
9	132905996	CCT	C	C132905997G	TSC1	NM_000368.5(TSC1):c.1580_1581del:p.Gln527fs	coding	Pathogenic
9	132906029	GCTGAGAAC	CA	G132906029C	TSC1	NM_001162426.2(TSC1):c.1538_1546delinsTG:p.Gly513fs	coding	Pathogenic
9	132906044	G	GA	C132906046A	TSC1	NM_000368.4(TSC1):c.1533dup:p.Leu512fs	coding	Pathogenic
9	132906046	CTG	C	G132906048C	TSC1	NM_000368.4(TSC1):c.1530_1531del:p.Asp510fs	coding	Pathogenic
9	132906050	CT	C	T132906051C	TSC1	NM_000368.5(TSC1):c.1527del:p.Asp510fs	coding	Pathogenic
9	132906059	AG	A	G132906062A	TSC1	NM_000368.4(TSC1):c.1518del:p.Tyr508fs	coding	Pathogenic
9	132906061	GGA	G	A132906065T	TSC1	NM_000368.5(TSC1):c.1513_1514TC[1]:p.Pro506fs	coding	Pathogenic
9	132906068	C	CA	G132906072A	TSC1	NM_000368.4(TSC1):c.1509dup:p.Asp504Ter	coding	Pathogenic
9	132906073	CCTCCTCGAGGAACCACAGG	C	C132906077T	TSC1	NM_000368.5(TSC1):c.1486_1504del:p.Pro496fs	coding	Pathogenic
9	132906130	GAT	G	A132906133T	TSC1	NM_001162426.2(TSC1):c.1441_1442AT[1]:p.Ile481_Ser482insTer	coding	Pathogenic
9	132906133	ATT	G	A132906133G	TSC1	NM_000368.4(TSC1):c.1443_1445delinsC:p.Ile482_Ser483insTer	coding	Pathogenic
9	132906136	GC	G	C132906137A	TSC1	NM_000368.4(TSC1):c.1441del:p.Ala481fs	coding	Pathogenic
9	132906734	CTTCT	C	C132906737A	TSC1	NM_000368.5(TSC1):c.1431_1434del:p.Glu478fs	coding	Pathogenic
9	132906779	CT	C	T132906780A	TSC1	NM_000368.5(TSC1):c.1389del:p.Gly464fs	coding	Pathogenic
9	132906780	TA	T	A132906785C	TSC1	NM_000368.4(TSC1):c.1388del:p.Phe462_Leu463insTer	coding	Pathogenic
9	132906780	T	TA	C132906786A	TSC1	NM_000368.4(TSC1):c.1388dup:p.Leu463fs	coding	Pathogenic
9	132906801	T	TA	G132906803A	TSC1	NM_000368.4(TSC1):c.1367dup:p.Ser457fs	coding	Pathogenic
9	132907294	AT	A	T132907298A	TSC1	NM_000368.5(TSC1):c.1333+6del	noncoding	Benign
9	132907332	T	TC	T132907334C	TSC1	NM_000368.4(TSC1):c.1301dup:p.Gln435fs	coding	Pathogenic
9	132907361	TTC	T	C132907367T	TSC1	NM_000368.4(TSC1):c.1271_1272delGA:p.Arg424Asnfs	coding	Pathogenic
9	132910576	TG	T	G132910582T	TSC1	NM_000368.5(TSC1):c.1257del:p.Arg420fs	coding	Pathogenic
9	132910583	TG	T	G132910584T	TSC1	NM_000368.5(TSC1):c.1250del	coding	Pathogenic
9	132910596	TG	T	G132910601A	TSC1	NM_000368.5(TSC1):c.1237del:p.Gln413fs	coding	Pathogenic
9	132910605	GA	G	A132910608T	TSC1	NM_000368.5(TSC1):c.1228del:p.Ser410fs	coding	Pathogenic
9	132910632	CAG	C	A132910635T	TSC1	NM_001162426.2(TSC1):c.1195_1196CT[1]:p.Cys400fs	coding	Pathogenic
9	132910670	CAG	C	A132910673G	TSC1	NM_001162426.2(TSC1):c.1157_1158CT[1]:p.Leu387fs	coding	Pathogenic
9	132910676	AG	A	G132910677T	TSC1	NM_000368.4(TSC1):c.1157del:p.Thr386fs	coding	Pathogenic
9	132910681	CT	C	T132910685C	TSC1	NM_000368.4(TSC1):c.1152del:p.Gly385fs	coding	Pathogenic
9	132911011	CAA	C	A132911013G	TSC1	NM_000368.4(TSC1):c.1130_1131del:p.Phe377fs	coding	Pathogenic
9	132911019	TTACTG	T	C132911022A	TSC1	NM_000368.4(TSC1):c.1119_1123del:p.Tyr373_Lys375delinsTer	coding	Pathogenic
9	132911069	AG	A	G132911071A	TSC1	NM_000368.4(TSC1):c.1073del:p.Pro358fs	coding	Pathogenic
9	132911085	C	CA	C132911089A	TSC1	NM_000368.5(TSC1):c.1057dup:p.Cys353fs	coding	Pathogenic
9	132911483	TGG	T	G132911486A	TSC1	NM_000368.4(TSC1):c.997_998del:p.Pro333fs	coding	Pathogenic
9	132911483	TG	T	G132911487A	TSC1	NM_000368.5(TSC1):c.998del:p.Pro333fs	coding	Pathogenic
9	132911491	TCA	T	C132911492G	TSC1	NM_000368.5(TSC1):c.989_990del:p.Leu330fs	coding	Pathogenic
9	132911492	CA	C	A132911493G	TSC1	NM_000368.5(TSC1):c.989del	coding	Pathogenic
9	132911492	CAG	C	A132911495T	TSC1	NM_001162426.2(TSC1):c.986_987CT[1]:p.Leu330fs	coding	Pathogenic
9	132911492	C	CAA	G132911494A	TSC1	NM_000368.4(TSC1):c.989_990insTT:p.Leu330_Ser331insTer	coding	Pathogenic
9	132911492	C	CA	G132911494A	TSC1	NM_000368.5(TSC1):c.989dup:p.Ser331fs	coding	Pathogenic
9	132911493	A	ATC	G132911494T	TSC1	NM_000368.4(TSC1):c.988_989insGA:p.Leu330fs	coding	Pathogenic
9	132911503	GTAGCTGCCCTGGCA	G	G132911506T	TSC1	NM_000368.4(TSC1):c.965_978del:p.Met322fs	coding	Pathogenic
9	132911516	CATATTTA	C	T132911518C	TSC1	NM_000368.5(TSC1):c.959_965del:p.Leu320fs	coding	Pathogenic
9	132912292	CTG	C	G132912298C	TSC1	NM_000368.5(TSC1):c.897_898CA[2]:p.Gln301fs	coding	Pathogenic
9	132912303	CA	C	A132912304T	TSC1	NM_000368.5(TSC1):c.891del:p.Pro296_Tyr297insTer	coding	Pathogenic
9	132912308	G	GGGCTGGTGGTGACATC	A132912330G	TSC1	NM_000368.4(TSC1):c.871_886dup:p.Pro296fs	coding	Pathogenic
9	132912314	GTGGTGACATCGGCTGAACGATGAGGAAAGCG	AACGATGAGGAAAGC	G132912314A	TSC1	NM_000368.4(TSC1):c.850_881delinsGCTTTCCTCATCGTT:p.Arg284fs	coding	Pathogenic
9	132912344	C	CG	C132912348G	TSC1	NM_000368.4(TSC1):c.850dup:p.Arg284fs	coding	Pathogenic
9	132912348	CT	C	T132912349G	TSC1	NM_000368.5(TSC1):c.846del:p.Ala283fs	coding	Pathogenic
9	132912363	AC	A	C132912364A	TSC1	NM_000368.5(TSC1):c.831del:p.Ser278fs	coding	Pathogenic
9	132912381	CAT	C	A132912384G	TSC1	NM_001162426.2(TSC1):c.810_811AT[1]:p.Ser270_Tyr271insTer	coding	Pathogenic
9	132921361	A	ACC	T132921364C	TSC1	NM_000368.4(TSC1):c.737_737+1dup	noncoding	Pathogenic
9	132921365	T	TC	G132921367C	TSC1	NM_000368.5(TSC1):c.734dup:p.Arg246fs	coding	Pathogenic
9	132921368	AG	A	G132921371T	TSC1	NM_000368.5(TSC1):c.731del:p.Pro244fs	coding	Pathogenic
9	132921818	C	CCTTGACCACTTCT	T132921832C	TSC1	NM_000368.4(TSC1):c.651_663dup:p.Pro222fs	coding	Pathogenic
9	132921833	CAA	C	A132921836G	TSC1	NM_000368.4(TSC1):c.647_648del:p.Thr215_Phe216insTer	coding	Pathogenic
9	132921833	CA	C	A132921837G	TSC1	NM_000368.5(TSC1):c.648del	coding	Pathogenic
9	132921844	A	AG	T132921847G	TSC1	NM_000368.4(TSC1):c.637dup:p.Leu213fs	coding	Pathogenic
9	132921846	GTT	G	T132921849C	TSC1	NM_000368.5(TSC1):c.634_635del:p.Asn212fs	coding	Pathogenic
9	132921887	AGTTGC	A	G132921888A	TSC1	NM_000368.4(TSC1):c.590_594del:p.Cys197fs	coding	Pathogenic
9	132921894	AG	A	G132921897T	TSC1	NM_000368.4(TSC1):c.587del:p.Pro196fs	coding	Pathogenic
9	132921907	TA	T	A132921910G	TSC1	NM_000368.5(TSC1):c.574del:p.Tyr192fs	coding	Pathogenic
9	132923348	CT	C	T132923349G	TSC1	NM_000368.5(TSC1):c.507del:p.Gly170fs	coding	Pathogenic
9	132923394	GA	G	A132923397T	TSC1	NM_000368.5(TSC1):c.461del:p.Phe154fs	coding	Pathogenic
9	132923401	AGAAG	GAAA	A132923401G	TSC1	NM_001162426.2(TSC1):c.451_455delinsTTTC:p.Leu151fs	coding	Pathogenic
9	132923438	GCATGGTTATCAA	AC	G132923438A	TSC1	NM_000368.5(TSC1):c.406_418delinsGT:p.Leu136fs	coding	Pathogenic
9	132923450	ACACCAAGACGC	TG	A132923450T	TSC1	NM_000368.5(TSC1):c.395_406delinsCA:p.Gly132fs	coding	Pathogenic
9	132923466	TG	A	T132923466A	TSC1	NM_000368.4(TSC1):c.389_390delinsT:p.Thr130fs	coding	Pathogenic
9	132925673	G	GT	A132925675T	TSC1	NM_001162427.2(TSC1):c.210+1527dup	coding	Pathogenic
9	132925677	CGA	C	A132925681G	TSC1	NM_000368.5(TSC1):c.269_270TC[1]:p.Ser91fs	coding	Pathogenic
9	132925678	GA	G	A132925679G	TSC1	NM_000368.5(TSC1):c.271del:p.Ser91fs	coding	Pathogenic
9	132925688	A	AT	A132925690T	TSC1	NM_000368.5(TSC1):c.261dup:p.Ser88fs	coding	Pathogenic
9	132927264	GT	G	T132927265A	TSC1	NM_001362177.2(TSC1):c.-154+1502del	coding	Pathogenic
9	132927291	C	CATAG	G132927296A	TSC1	NM_000368.5(TSC1):c.116_119dup:p.Met40fs	coding	Pathogenic
9	132927299	CA	C	A132927300C	TSC1	NM_000368.5(TSC1):c.111del:p.Gly38fs	coding	Pathogenic
9	132928782	C	CTTTAA	A132928788T	TSC1	NM_001362177.2(TSC1):c.-174_-170dup	coding	Pathogenic
9	132928798	C	CA	C132928800A	TSC1	NM_001362177.2(TSC1):c.-186dup	coding	Pathogenic
9	132928831	CAGCATGGCAAGAAGCTCC	TTG	C132928831T	TSC1	NM_001362177.2(TSC1):c.-236_-218delinsCAA	coding	Pathogenic
9	132989815	TC	T	C132989817A	GFI1B	NM_004188.8(GFI1B):c.724del:p.His242fs	coding	Pathogenic
9	132990934	A	AC	A132990938C	GFI1B	NM_004188.8(GFI1B):c.880dup:p.His294fs	coding	Pathogenic
9	133351945	T	TA	C133351949A	SURF1	NM_003172.4(SURF1):c.870dup:p.Lys291Ter	coding	Pathogenic
9	133351969	CAG	C	A133351974T	SURF1	NM_003172.4(SURF1):c.841_842CT[2]:p.Ser282fs	coding	Pathogenic
9	133352068	C	CGATGTACTGCA	C133352084T	SURF1	NM_003172.4(SURF1):c.815_825dup:p.Val276fs	coding	Pathogenic
9	133352093	CAG	C	A133352096T	SURF1	NM_003172.4(SURF1):c.797_798CT[1]:p.Leu267fs	coding	Pathogenic
9	133352100	ACT	A	C133352103G	SURF1	NM_003172.4(SURF1):c.790_791AG[1]:p.Arg264fs	coding	Pathogenic
9	133352134	CTG	C	T133352137C	SURF1	NM_003172.4(SURF1):c.756_757CA[1]:p.Thr253fs	coding	Pathogenic/Likely_pathogenic
9	133352138	GCT	G	C133352143G	SURF1	NM_003172.3(SURF1):c.754_755delAG:p.Ser252Hisfs	coding	Pathogenic/Likely_pathogenic
9	133352564	TTC	T	C133352566G	SURF1	NM_003172.4(SURF1):c.631_632del:p.Glu211fs	coding	Pathogenic/Likely_pathogenic
9	133352707	C	CGCAG	G133352709C	SURF1	NM_003172.4(SURF1):c.574_575insCTGC:p.Arg192fs	coding	Pathogenic/Likely_pathogenic
9	133352725	TTC	T	C133352727T	SURF1	NM_003172.4(SURF1):c.555_556del:p.Lys186fs	coding	Pathogenic
9	133352730	CCT	C	C133352731G	SURF1	NM_003172.4(SURF1):c.550_551del:p.Arg184fs	coding	Pathogenic
9	133352746	CTA	C	A133352748T	SURF1	NM_003172.4(SURF1):c.534_535del:p.Asn178fs	coding	Pathogenic
9	133352746	CTATT	C	T133352749C	SURF1	NM_003172.4(SURF1):c.532_535del:p.Asn178fs	coding	Pathogenic
9	133353797	GTT	G	T133353798G	SURF1	NM_003172.4(SURF1):c.465_466del:p.Thr156fs	coding	Pathogenic
9	133354660	CGG	C	G133354661C	SURF1	NM_003172.4(SURF1):c.320_321del:p.Ala107fs	coding	Pathogenic
9	133354661	GGCTGGCAGA	AT	G133354661A	SURF1	NM_003172.4(SURF1):c.312_321delinsAT:p.Pro104_Leu105insTer	coding	Pathogenic
9	133354664	TGGCAGA	T	C133354667G	SURF1	NM_003172.4(SURF1):c.312_317del:p.Leu105_Pro106del	coding	Pathogenic
9	133354700	C	CA	C133354703A	SURF1	NM_003172.4(SURF1):c.281dup:p.Leu94fs	coding	Pathogenic
9	133356345	AGCTCCGGGACCCCTCCCCGCG	A	G133356346C	SURF1	NM_003172.4(SURF1):c.54+34_55-26del	noncoding	Benign
9	133356366	G	GCCCCGCACCCCGCA	G133356391C	SURF1	NM_003172.4(SURF1):c.54+13TGCGGGG[5]	noncoding	Benign
9	133356369	C	CGG	C133356370G	SURF1	NM_003172.4(SURF1):c.54+30_54+31insCC	noncoding	Benign
9	133356415	C	CGCCCGCA	C133356427G	SURF1	NM_003172.4(SURF1):c.32_38dup:p.Leu16fs	coding	Pathogenic
9	133356426	C	CCAGCTGCAACGCAGCCA	C133356445A	SURF1	NM_003172.4(SURF1):c.11_27dup:p.Gly10fs	coding	Pathogenic
9	133356440	GCCACCGCCGCCATCGCACCCGGCC	G	A133356443G	SURF1	NM_003172.4(SURF1):c.-11_13del:p.Met1_Ala5del	coding	Pathogenic
9	133356521	GCC	G	C133356523A	SURF1	NC_000009.12:g.133356522_133356523del	noncoding	Benign
9	133424430	GGCTCACCAGGAGGACACAGAGCGCTATGT	G	G133424439A	ADAMTS13	NM_139025.4(ADAMTS13):c.291_319del:p.Glu98fs	coding	Pathogenic
9	133439442	CTT	C	T133439443G	ADAMTS13	NM_139025.4(ADAMTS13):c.1783_1784del:p.Leu595fs	coding	Pathogenic
9	133443514	GCCAGCTGTGGCGCTGGAAACCTGCAA	G	A133443517C	ADAMTS13	NM_139025.4(ADAMTS13):c.2376_2401del:p.Ala793fs	coding	Pathogenic
9	133449783	G	GT	G133449785T	ADAMTS13	NM_139025.4(ADAMTS13):c.2863dup:p.Trp955fs	coding	Pathogenic
9	133449850	TGTGCCC	T	T133449852G	ADAMTS13	NM_139025.4(ADAMTS13):c.2931_2936del:p.Cys977_Arg979delinsTrp	coding	Pathogenic
9	133456596	C	CT	G133456598T	ADAMTS13	NM_139025.4(ADAMTS13):c.3770dup:p.Leu1258fs	coding	Pathogenic
9	133459038	C	CA	G133459040A	ADAMTS13	NM_139025.4(ADAMTS13):c.4143dup:p.Glu1382fs	coding	Pathogenic
9	133575149	GC	G	C133575155A	ADAMTSL2	NM_014694.4(ADAMTSL2):c.*291del	noncoding	Benign
9	133631747	GGT	G	G133631770A	DBH	NC_000009.11:g.136496870_136496871(11_15	noncoding	Benign
9	133639970	A	AC	A133639975C	DBH	NM_000787.4(DBH):c.468dup:p.Lys157fs	coding	Pathogenic
9	133642336	GA	G	A133642337G	DBH	NM_000787.4(DBH):c.617del:p.Glu206fs	coding	Pathogenic
9	133772055	A	ACACACGGCCCCGGCGGTCACTGCGTGAGGGC	C133772076T	VAV2	NM_001134398.2(VAV2):c.2136-10_2136-9insGTGACCGCCGGGGCCGTGTGGCCCTCACGCA	noncoding	Benign
9	134034697	G	GT	A134034699T	BRD3	NM_007371.4(BRD3):c.2065+3dup	noncoding	Benign
9	134691027	CAG	C	A134691030T	COL5A1	NM_001278074.1(COL5A1):c.226_227AG[1]:p.Arg76fs	coding	Pathogenic
9	134699926	G	GACTTCTCC	T134699936C	COL5A1	NM_001278074.1(COL5A1):c.297_304dup:p.Ile102fs	coding	Pathogenic
9	134727340	CTG	C	T134727343A	COL5A1	NM_001278074.1(COL5A1):c.730_731TG[1]:p.Cys244_Asp245delinsTer	coding	Pathogenic
9	134728754	A	AC	A134728760C	COL5A1	NM_000093.5(COL5A1):c.876dup:p.Ser293fs	coding	Pathogenic
9	134730404	GAC	G	A134730405C	COL5A1	NM_000093.5(COL5A1):c.1094_1095del:p.Asp365fs	coding	Pathogenic
9	134731525	TGA	G	T134731525G	COL5A1	NM_000093.5(COL5A1):c.1194_1196delinsG:p.Asp398fs	coding	Pathogenic
9	134732098	CA	C	A134732102G	COL5A1	NM_001278074.1(COL5A1):c.1364del:p.Lys455fs	coding	Pathogenic
9	134738455	CCT	C	C134738462G	COL5A1	NM_000093.5(COL5A1):c.1390-18CT[3]	noncoding	Benign/Likely_benign
9	134750543	GC	G	C134750549T	COL5A1	NM_001278074.1(COL5A1):c.1502del:p.Pro501fs	coding	Pathogenic
9	134750549	CT	C	T134750550G	COL5A1	NM_001278074.1(COL5A1):c.1503del:p.Gly502fs	coding	Pathogenic
9	134767019	GC	G	C134767025A	COL5A1	NM_000093.5(COL5A1):c.2159del:p.Pro720fs	coding	Pathogenic
9	134767019	G	GC	A134767026C	COL5A1	NM_001278074.1(COL5A1):c.2159dup:p.Gly721fs	coding	Pathogenic
9	134767026	A	AG	A134767029G	COL5A1	NM_001278074.1(COL5A1):c.2162dup:p.Gln722fs	coding	Pathogenic
9	134767320	G	GC	A134767326C	COL5A1	NM_001278074.1(COL5A1):c.2203dup:p.Gln735fs	coding	Pathogenic
9	134774874	C	CT	A134774875T	COL5A1	NM_001278074.1(COL5A1):c.2347_2348insT:p.Gln783fs	coding	Pathogenic
9	134780100	AG	A	G134780105C	COL5A1	NM_000093.4(COL5A1):c.2389delG	noncoding	Pathogenic
9	134784950	G	GT	G134784951T	COL5A1	NM_001278074.1(COL5A1):c.2485-39_2485-38insT	noncoding	Benign
9	134784950	G	GTGT	G134784951T	COL5A1	NM_001278074.1(COL5A1):c.2485-39_2485-38insTGT	noncoding	Benign
9	134784955	G	GGGCA	T134784956G	COL5A1	NM_001278074.1(COL5A1):c.2485-34_2485-33insGGCA	noncoding	Benign
9	134785054	TC	T	C134785057A	COL5A1	NM_000093.5(COL5A1):c.2553del:p.Asn852fs	coding	Pathogenic
9	134785065	AC	A	C134785069G	COL5A1	NM_001278074.1(COL5A1):c.2565del:p.Gly856fs	coding	Pathogenic
9	134785993	A	AG	A134785997G	COL5A1	NC_000009.12:g.134785996dup	noncoding	Pathogenic
9	134789166	AT	A	T134789168C	COL5A1	NM_000093.5(COL5A1):c.2660del:p.Phe887fs	coding	Pathogenic
9	134795297	TG	T	G134795300A	COL5A1	NM_001278074.1(COL5A1):c.2784del:p.Lys929fs	coding	Pathogenic
9	134796894	GC	G	C134796900T	COL5A1	NM_001278074.1(COL5A1):c.2897del:p.Pro966fs	coding	Pathogenic
9	134797187	T	TTC	G134797193C	COL5A1	NM_001278074.1(COL5A1):c.2898+287TC[3]	noncoding	Benign
9	134798460	CTG	C	T134798463A	COL5A1	NM_001278074.1(COL5A1):c.2952+2_2952+3del	coding	Pathogenic
9	134801718	C	CAG	G134801723A	COL5A1	NM_001278074.1(COL5A1):c.2953-235AG[3]	noncoding	Benign
9	134801982	GC	G	C134801989G	COL5A1	NM_001278074.1(COL5A1):c.2988del:p.Gly997fs	coding	Pathogenic
9	134801982	G	GC	G134801990C	COL5A1	NM_001278074.1(COL5A1):c.2988dup:p.Gly997fs	coding	Pathogenic
9	134802940	CT	C	T134802941G	COL5A1	NM_000093.5(COL5A1):c.3060del:p.Gly1021fs	coding	Pathogenic
9	134802944	A	AC	G134802951C	COL5A1	NM_001278074.1(COL5A1):c.3069dup:p.Gly1024fs	coding	Pathogenic/Likely_pathogenic
9	134805159	A	AG	A134805163G	COL5A1	NM_001278074.1(COL5A1):c.3206dup:p.Ala1070Serfs	noncoding	Pathogenic
9	134806224	TG	T	G134806227C	COL5A1	NM_000093.5(COL5A1):c.3297del:p.Ile1101fs	coding	Pathogenic
9	134806238	T	TTCCAGGGAGACCTGGGC	C134806256T	COL5A1	NM_001278074.1(COL5A1):c.3309_3325dup:p.Pro1109fs	coding	Pathogenic
9	134809181	A	AGGGCGAGAAAGGCCCACAAGGCCCAGCTGGCCGAGACGGTCTCCAGGGGCCTGTGGGGCTCCC	T134809248C	COL5A1	NC_000009.12:g.134809185_134809247dup	noncoding	Pathogenic
9	134811589	TG	T	G134811593C	COL5A1	NM_001278074.1(COL5A1):c.3684del:p.Leu1229fs	coding	Pathogenic
9	134812478	TGAGACAG	T	A134812484G	COL5A1	NM_001278074.1(COL5A1):c.3726_3732del:p.Gly1243fs	coding	Pathogenic
9	134812603	AG	A	G134812606C	COL5A1	NM_000093.4(COL5A1):c.3746delG	noncoding	Pathogenic
9	134812606	GC	G	C134812612G	COL5A1	NM_001278074.1(COL5A1):c.3752del:p.Pro1251fs	coding	Pathogenic
9	134812606	G	GC	G134812613C	COL5A1	NM_001278074.1(COL5A1):c.3752dup:p.Pro1253fs	coding	Pathogenic/Likely_pathogenic
9	134812621	CT	C	T134812622G	COL5A1	NM_001278074.1(COL5A1):c.3762del:p.Gly1255fs	coding	Pathogenic
9	134812663	C	CA	C134812665A	COL5A1	NM_000093.5(COL5A1):c.3804dup:p.Gln1269fs	coding	Pathogenic
9	134814870	GC	G	C134814873T	COL5A1	NM_001278074.1(COL5A1):c.3983del:p.Pro1328fs	coding	Pathogenic
9	134815604	G	GC	G134815612C	COL5A1	NM_000093.5(COL5A1):c.4050dup:p.Gly1351fs	coding	Pathogenic
9	134817028	A	AT	C134817030T	COL5A1	NM_001278074.1(COL5A1):c.4126dup:p.Ser1376fs	coding	Pathogenic
9	134817780	TC	T	C134817785A	COL5A1	NM_001278074.1(COL5A1):c.4184del:p.Pro1395fs	coding	Pathogenic
9	134817802	GA	G	A134817804G	COL5A1	NM_001278074.1(COL5A1):c.4203del:p.Gly1402fs	coding	Pathogenic
9	134818654	AG	A	G134818657A	COL5A1	NM_000093.4(COL5A1):c.4232delG	noncoding	Pathogenic
9	134818707	CA	C	A134818708G	COL5A1	NM_001278074.1(COL5A1):c.4283del:p.Gln1428fs	coding	Pathogenic
9	134818846	AG	A	G134818849A	COL5A1	NM_000093.4(COL5A1):c.4339-1delG	noncoding	Pathogenic
9	134820213	A	AGGGAG	A134820219G	COL5A1	NM_001278074.1(COL5A1):c.4545_4549dup:p.Glu1517fs	coding	Pathogenic
9	134822719	CG	C	G134822720C	COL5A1	NM_001278074.1(COL5A1):c.4609-278del	noncoding	Benign
9	134823015	AG	A	G134823017T	COL5A1	NM_000093.5(COL5A1):c.4628del:p.Gly1543fs	coding	Pathogenic
9	134823026	GC	G	C134823027T	COL5A1;LOC101448202	NM_000093.5(COL5A1):c.4638del:p.Ser1547fs	coding	Pathogenic
9	134823426	GCCCGA	G	C134823427A	COL5A1	NM_001278074.1(COL5A1):c.4656_4660del:p.Pro1553fs	coding	Pathogenic
9	134823462	G	GC	G134823469C	COL5A1	NM_001278074.1(COL5A1):c.4697dup:p.Glu1571fs	coding	Pathogenic
9	134824598	AG	A	G134824601C	COL5A1	NC_000009.12:g.134824601del	noncoding	Pathogenic
9	134824807	GC	G	C134824810G	COL5A1	NM_001278074.1(COL5A1):c.4909del:p.Arg1637fs	coding	Pathogenic
9	134835015	G	GA	T134835017A	COL5A1	NM_000093.5(COL5A1):c.5182dup:p.Met1728fs	coding	Pathogenic
9	134835125	T	TC	G134835128C	COL5A1	NM_000093.5(COL5A1):c.5293dup:p.Arg1765fs	coding	Pathogenic
9	134835131	TC	T	C134835133T	COL5A1	NM_001278074.1(COL5A1):c.5299del:p.Leu1767fs	coding	Pathogenic
9	134835170	AC	G	A134835170G	COL5A1	NM_001278074.1(COL5A1):c.5336_5337delinsG:p.Asn1779fs	coding	Pathogenic
9	134835190	G	GT	G134835192T	COL5A1	NM_001278074.1(COL5A1):c.5357dup:p.Asp1787fs	coding	Pathogenic
9	134835204	TGTGA	T	G134835207A	COL5A1	NM_001278074.1(COL5A1):c.5370+3_5370+6del	coding	Pathogenic
9	134842159	CAAGA	C	A134842163G	COL5A1	NM_000093.5(COL5A1):c.5377_5380del:p.Lys1793fs	coding	Pathogenic
9	134842243	CTT	C	T134842244C	COL5A1	NM_001278074.1(COL5A1):c.5458_5459del:p.Phe1820fs	coding	Pathogenic
9	134843171	T	TAGGG	A134843177G	COL5A1	NM_001278074.1(COL5A1):c.*870_*873dup	noncoding	Benign
9	134843386	GCTAT	G	A134843393G	COL5A1	NM_001278074.1(COL5A1):c.*1086_*1089ATCT[1]	noncoding	Benign
9	135714735	C	CGG	T135714740G	KCNT1	NM_020822.3(KCNT1):c.254+18_254+19dup	noncoding	Benign
9	135757001	A	AC	T135757004C	KCNT1	NM_020822.3(KCNT1):c.600+71dup	noncoding	Benign
9	135758276	C	CAGGCTGCCCCGTGGGCCTCAGCCGAGACACAGGTGTGGCCAGGTGCAGGCTGCCCCATGGGCCTCAGCCGAGACACAGGTGTGGCCAGGTGT	G135758305A	KCNT1	NM_020822.3(KCNT1):c.760-110_760-109insACAGGTGTGGCCAGGTGCAGGCTGCCCCATGGGCCTCAGCCGAGACACAGGTGTGGCCAGGTGTAGGCTGCCCCGTGGGCCTCAGCCGAGAC	noncoding	Benign
9	135765349	CGCCATCCTCTCCCCAGGACT	C	C135765372T	KCNT1	NM_020822.3(KCNT1):c.1200+177_1200+196del	noncoding	Benign
9	135769099	ATGCGTGTGCACACGTGGGTGTCGGTGCGTCTGGGGCAGGG	A	T135769100C	KCNT1	NM_020822.3(KCNT1):c.1510+163_1510+202del	noncoding	Benign
9	135769103	GTGTGCACACGTGGGTGTCGGTGCGTCTGGGGCAGGGCGCA	G	T135769120A	KCNT1	NM_020822.3(KCNT1):c.1510+183_1510+222del	noncoding	Benign
9	135769120	TCGGTGCGTCTGGGGCAGGGCGCATGTGCACACGTGGGTGA	T	A135769143G	KCNT1	NM_020822.3(KCNT1):c.1510+206_1510+245del	noncoding	Benign
9	135775740	C	CA	G135775741A	KCNT1	NM_020822.3(KCNT1):c.2349+325_2349+326insA	noncoding	Benign
9	135779186	GTGGGACCCTGCCCTGAGACCCCCATAGCCAAGACAGTGGGCCCTGCCCTGAGACCCCCCCACAGCCA	G	T135779195C	KCNT1	NM_020822.3(KCNT1):c.2730-164_2730-98del	noncoding	Benign
9	135784482	GCTCCCTCCCTCCCTCCCTCC	G	C135784509G	KCNT1	NM_020822.3(KCNT1):c.2944-52CTCC[6]	noncoding	Benign
9	135784482	GCTCCCTCCCTCCCTCC	G	C135784513G	KCNT1	NM_020822.3(KCNT1):c.2944-52CTCC[7]	noncoding	Benign
9	135784482	GCTCCCTCCCTCC	G	C135784517G	KCNT1	NM_020822.3(KCNT1):c.2944-52CTCC[8]	noncoding	Benign/Likely_benign
9	135784482	GCTCCCTCC	G	C135784521G	KCNT1	NM_020822.3(KCNT1):c.2944-52CTCC[9]	noncoding	Benign/Likely_benign
9	135784482	GCTCC	G	C135784525G	KCNT1	NM_020822.3(KCNT1):c.2944-52CTCC[10]	noncoding	Benign
9	135786170	C	CGCCCT	A135786195T	KCNT1	NM_020822.3(KCNT1):c.3178-26GCCCT[5]	noncoding	Benign
9	135786170	CGCCCT	C	T135786190A	KCNT1	NM_020822.3(KCNT1):c.3178-26GCCCT[3]	noncoding	Benign
9	136198196	GAAATAAATAATCCAGGCCCCACAGAAGGGTATGGAACCTTCTCTCCCTGACCCCAGGTAGCCCCCTCCCCCAACTCCAAGCAGCTGGGACTTCGACTCAGTCTTTCCCGAAATGCACTGCCCATTCTCCTAAAAATCACTGCAAGGGCTAGGAGCCAGAGAGACGGCCTGGACACGCCCACCCCCCCATGAGAAAGCCCGTAGGCGCCCAGCTTGGGGACAGGTCGGGCCACAGGGATTGTGTCCCCACCAGGGGAAAAGCAGTGGTCCGGAGTGGCCACCCAGGGCGGGGAGGGTGCTGGGGGAGCAGGTTCTGTAAGTGAAATGCTTTTGAAAGTAGAACTTAAGGAGTCCACTAACTCCATGGGAAATTCAGATCCGCGGGCTCCCTGGGACCCCTGCGACCCCGCCGACGCGCGCTCGTCCCCCCCCGAGCTCCGCGATCCCTCCGCCTACCGGGGAAGGAGACCTCAGCGTCGCTGTCCTGCCCCTCCTGAACGCTGTCCTTGTCCGACTTGGAGCCGCCGCGGGAGCGCTTCATGTTGCGGAAATACTGCCCCCAGCGCTGCCGGCCGGCGTCCTTCTTCAGCCTCTTCTCCTTGGCCCGGCGGTTCTGGAACCAAACCTGGGGGCGGGGCGGGGTGAGCGGCCGCCCGGCTCTGCGGGGGCCCCCAAGGCCGCGGGCGGGAGGGAAGCAGGGGCGAGCGCTGACCTGCACCACGCGCATGTCCAGGCCCGTCTCGGACGAGAGCTGCTCGCGCACGTGGCGCGCCGGCTTGGGCGAGGTGTTGTAAGCGCTCTTCAGCGTCTCCAGCTGCTTGGCGGTGATGGTCGTGCGCGGCCGCTTGGCCGTGGCCTCGGCCTCTGCGCGGCGGGCGAGCGGTGAGGCGCGGCAGCCCCTCCGGCCCCGGCCGGACCCCCAGCCCTCCCACCCCGGCCGGCGCGGGGACGTCGGGGCCTCAGGTGCCCACCCCCATCCCGCCCCACAGGCTTCTCGGAAGGCGCGGGCGCTGGGAGCGATTGGCAAAAACGGGCAGCACCCGGGCTGGGGTGGAGGGGGCGCCGGCGGAGGGCGGGTTCTGCCGCGGGGGCGGGGGCGGCGCCTTCCCTAAAATCGCACCTCCACGGCGCCCCCGCCTTCAGCCTTGGCTCCCTTCTCCAAGCACCCTGATTTCCCCGCGGGCTCCCCTTTATTCTAAGGGTGTGGGTATGGCCCAGCCTTCGCGGCCAAGAATTTAGGGCGATAATTCCGACCAGGGGCGAAAAGCCGCACACTTCGGACCGAACGAAGCGGTTCGGGACGCGGGTCTGTCCGTGACTCCGCCGTTCCCGGCCTCGGCTTCCTGCTGCCTACACCGCCCTAGCCCAGGCCCCCTTAGTGAGCGCTTGGGGAGAGAATTTCCCCGGACGCCCCCCTGGGCGTGGCCTCAGCCCCATTTTTTTCAGACCAGGAAAGGTGGGAGCGTCGTCCCCTCGGCTGACCTCGCTGCTTGGCGGTTTCGTAGTCCGCCTTGCACACGAGCCGGCTGTCCTCCATGAGGTAGAACTCGTCGCCCGTGGCCAGCTGCCGCTTGCACACGACGCAGGCAAAGCAGTGCAGGTGGTACACGAAGTCCTGGGCGCGGCGCACCACCTGCGTGGGCGGGATGCCCAGCTGGCACGCGGCGCACTTGGTCCCGAAGCGCCTGCGGGACGCACAGGGCCGGGCTCAGCGCGGAAGCGCGAGGCTCATTTCGCCCCGAGCGGGTTGGAGAGAGGCAAGCGGCTGCCTGGGAAGGCGGCCCCGGAGGAAGGCTCTGTCCGGCCCTGCAGGGTGGTCGCCAGCCTGGCCGCCGGGGCAGAGCTGCCCACTCCCACTGAGAAGGGAACCTCAATCTCAGAAAGACCTCGGGGAGCCCAGCCGCCATTGCCTGCAGGACCCATGCTGGATCTGGGAAGGTGAATCCGGAGGGAGAGGACCCATCTGGGGCCAGTCCCTCACACCCCACAGCTGGAGCCATGAAGGCCACTGGGCCAGAGCCGCTGGGTGCCAGCATTAGGAACTAAAACATCACCAATTTCGGAGGAACTAAGTCCAGTAGAATCCTACAAATAGGGGTGTATCTTCTCTAATGACTGCTTCTGTGATTTAGGTAATAAATTGCTTTTTTTTCCAAATAATACTTGCTGATGTCCCAGCCAGGCCCAGCCACCCAGGGAGCACCCATGGAGAGGCCCCACCCTTAATTTGGCCAGGCCACAGGGTGCCCTGCCTGGGTGACAGGAGTGGGCTGGGATTGCGAGAGACGCAGGCTTCGAGGGCCTGGCCTTGGTGATTGTGAGGGGAGGAGTCCCTGGGGCAGGCGTGCCCTCCGCTCCCACACTGAGGTGAGGTTTCGGGGCTCACTTGAAAAAGTCGTCCTTGCAGTAAACGCTCTCCCCTCGGCTGAAGCAGCGCTCGGCCAGTGGCGTGTGGCAGTCGCTGCACTTGAGACACTTGCTGTGCCAGTGGCGGTCCAGAGCCTTGAGGATGAAGCGGTCCAGGATGTGCTGGTCACAGCCAGCGCACAGCGGGATCTCTGTGGGCACGAGGAAGTTCTGGGTCACCTCGTAGACCAGGAGGCAGTGAAGCCACCTTCCCACCCCAACGCGAGCCAGTCTCCCCTCCGGCCCACAGGACTCAGGGCTGCCGAGGGGTCCTCCTTTCCCTACACACCCTCTTCCCCAGCCAGCTTAAGTGGCCCCGCAAGTTCCGGGAGTGTGCAGGCACCGCATCCTATGTCAGGAGCTAAGGGGAAACTGACATCGGTCTAAAAATGTGTGTGAGCAAGAAAGCAGCCCAGGCCATTTCACGAGGCTGAATACTCAATTACAAAATGTTGCCAGTGCCAAGAAGGGTGCATGTGGAGCTCAAATGAAAACCCCACCCCAGGGGGATCTGCTCTCTGAAGCCCGGCAGGAAACATAGGGAAACGGGTCTTCACCATCACCTGGAGCTGGGGCACCCCATCGGGTCTCCTTCATGTTAAGCGTCATGGCCACTCTTTCTAGGGACTCCTCGCAAATGTGGCTGCCCTGCCTGGTGGCCCTGTCTGCAGGCCTCCGGGGT	G	A136198202T	LHX3	NM_178138.6(LHX3):c.80-530_776-454del	noncoding	Pathogenic
9	136199657	AGCGTCGTCCCCTCGGCTGACCTC	A	G136199660T	LHX3	NM_178138.6(LHX3):c.452_454+20del	noncoding	Pathogenic
9	136199844	GC	AGGA	G136199844A	LHX3	NM_178138.6(LHX3):c.287_288delinsTCCT:p.Gly96fs	coding	Pathogenic
9	136200736	CA	C	A136200737G	LHX3	NM_178138.6(LHX3):c.96del:p.Gly33fs	coding	Pathogenic
9	136202994	C	CTA	C136202996A	LHX3	NM_178138.6(LHX3):c.79+1939_79+1940insAT	coding	Pathogenic
9	136366802	TTGTC	T	T136366805A	CARD9	NM_052813.4(CARD9):c.1351_1354del:p.Asp451fs	coding	Pathogenic
9	136367237	G	GC	A136367240C	CARD9	NM_052813.4(CARD9):c.1289dup:p.Ser431fs	coding	Pathogenic
9	136370283	TGC	T	G136370284C	CARD9	NM_052813.4(CARD9):c.951+9_951+10del	noncoding	Benign
9	136370562	AG	A	G136370565C	CARD9	NM_052813.5(CARD9):c.766del:p.Leu256fs	coding	Pathogenic
9	136370690	GA	G	A136370691G	CARD9	NM_052813.5(CARD9):c.638del:p.Leu213fs	coding	Pathogenic
9	136429711	CTG	C	G136429713A	INPP5E	NM_019892.6(INPP5E):c.1897_1898del:p.Gln633fs	coding	Pathogenic
9	136430318	CA	C	A136430319C	INPP5E	NM_019892.6(INPP5E):c.1760del:p.Val587fs	coding	Pathogenic
9	136433147	G	GCGCCCACCCCTCCAGCCA	T136433156C	INPP5E	NM_019892.6(INPP5E):c.1159+7_1159+8insGGTGGGCGTGGCTGGAGG	noncoding	Benign/Likely_benign
9	136433147	G	GCGCCCACCCCTCCAGCCGCGCCCACCCCTCCAGCCA	T136433156C	INPP5E	NM_019892.6(INPP5E):c.1159+7_1159+8insGGTGGGCGTGGCTGGAGGGGTGGGCGCGGCTGGAGG	noncoding	Benign
9	136433147	G	GCGCCCACCCCTCTAGCCA	T136433156C	INPP5E	NM_019892.6(INPP5E):c.1159+7_1159+8insGGTGGGCGTGGCTAGAGG	noncoding	Benign
9	136438597	GCCCT	G	C136438602A	INPP5E	NM_019892.6(INPP5E):c.812+7_812+10del	noncoding	Benign
9	136438671	AG	A	G136438674A	INPP5E	NM_019892.6(INPP5E):c.748del:p.Leu250fs	coding	Pathogenic
9	136438929	A	AC	A136438934C	INPP5E	NM_019892.6(INPP5E):c.490dup:p.Val164fs	coding	Pathogenic
9	136438946	A	AC	G136438953C	INPP5E	NM_019892.6(INPP5E):c.473dup:p.Gly158_Asn159insTer	coding	Pathogenic
9	136439375	CG	C	G136439379C	INPP5E	NM_019892.6(INPP5E):c.44del:p.Pro15fs	coding	Pathogenic
9	136499143	TGA	T	A136499145T	NOTCH1	NM_017617.5(NOTCH1):c.6049_6050del:p.Ser2017fs	coding	Pathogenic
9	136499148	TG	T	G136499149A	NOTCH1	NM_017617.5(NOTCH1):c.6045del:p.Asn2016fs	coding	Pathogenic
9	136503339	ACAAT	A	A136503342G	NOTCH1	NM_017617.5(NOTCH1):c.5019-13_5019-10del	noncoding	Benign
9	136504951	C	CA	T136504953A	NOTCH1	NM_017617.5(NOTCH1):c.4739dup:p.Met1580fs	coding	Pathogenic
9	136505383	AG	A	G136505384T	NOTCH1	NM_017617.5(NOTCH1):c.4512del:p.Cys1505fs	coding	Pathogenic
9	136505768	GC	G	C136505771A	NOTCH1	NM_017617.5(NOTCH1):c.4127del:p.Gly1376fs	coding	Pathogenic
9	136508988	CA	C	A136508989G	NOTCH1	NM_017617.5(NOTCH1):c.3052del:p.Cys1018fs	coding	Pathogenic
9	136513039	A	AG	T136513041G	NOTCH1	NM_017617.5(NOTCH1):c.2448dup:p.Cys817fs	coding	Pathogenic
9	136514693	CA	C	A136514694C	NOTCH1	NM_017617.5(NOTCH1):c.2023del:p.Cys675fs	coding	Pathogenic
9	136515367	GCA	G	C136515370G	NOTCH1	NM_017617.5(NOTCH1):c.1933_1934TG[1]:p.Ala646fs	coding	Pathogenic
9	136516000	G	GT	A136516002T	NOTCH1	NM_017617.5(NOTCH1):c.1649dup:p.Tyr550Ter	coding	Pathogenic
9	136517796	GT	G	T136517797G	NOTCH1	NM_017617.5(NOTCH1):c.1396del:p.Thr466fs	coding	Pathogenic
9	136518671	GCA	G	C136518674G	NOTCH1	NM_017617.5(NOTCH1):c.1015_1016TG[1]:p.Ala340fs	coding	Pathogenic
9	136519511	CAGT	GG	C136519511G	NOTCH1	NM_017617.5(NOTCH1):c.794_797delinsCC:p.Asn265fs	coding	Pathogenic
9	136673825	GTGGTCCTCA	G	T136673829C	AGPAT2	NM_006412.4(AGPAT2):c.755_763del:p.Met252_Thr254del	coding	Pathogenic
9	136674769	GGAGGA	G	G136674772A	AGPAT2	NM_006412.4(AGPAT2):c.622_626del:p.Ser208fs	coding	Pathogenic
9	136676050	ACCCTGGCCTCTCCCAGACACCCTAGGATGCACTGCACCCCTGGAGGCTGGGGACCAGGAAGTCCAGAGTCTGGAGGCGCTGCTTACAATGAGCTCCACCCACCCTGAGCTCTGGTCTGGCCTGATACTACACCAAAAGCCTGGCTTGTCCAGACCCACTGCCCATGCCCTGAAGCCCACCCCAGCCAGGCACAGGCCCAGAAATGAGCCTCCTGAGAGCTCTGCAGCAGAGGCGAGCGGCCCGGCTCCCCACCCCTCTACCTGCCCAGCCTCGCAGGCCAAGCACTGGGTGCCCACCAAGGGCAGCTGGTCACTCTGGGCTCTGTGTGGGCAAAAGGCCCAAGGGGCTGCCCTCCCTGGTCGGTCAGGGGGCAAGTGCAGGAAGGGGCAAGGAGGCCCTGTCCCCAACTCAGTGGGAGGAGTCCCTTGTGTGTCAAGGGTCCTCAGCTCGGCTGGTGGTCACCTGCTGCCTTAAGCCAGCCTGACCCCGCCTCCCCAGCCTGCACCCACCCAGGGAGGGCTGGGCTCAGCCTACCTGTGCCTGGACTGCCAGGTAGAAGGCGCCCTTCTTAAAAGGCAGCAGGTCCCCATTGTCGTTGCGAGTACCCTCGGGATAGATCCACACTTTGAGCTGCAGGGAGAGGAGAGCCTGGACTGACCTCACGCCCAGGCCACCCCAGAAAGGCCACGCCGCCTCGCCTCCTAAGAAGCCCCACTTCGCAAAGCAGCTGGCATGGGACCCCATCTGCGGAGCATGGATGATGTAGGGGTCTGGCGTGGGACCCCACCTGCGGAGCATGGATGATGTGGGGGTCTTGTTTTTTCTGCCAAAACCAAGTCACAAGCTGGCCCCTGCCTGGCCCCGCCCAGGCCCCACCCCAACCCCACCGAGCCCGGCCCTGCACACTCACGTTCTCCCTGACCATGCGCTCGCCCAGGTCGGCCATCACTGTCATGGCAGTGCTAGAGCGCTGCCGGTTGATGAAGAAGACGCCCCCGAGGTACATGATGAGGCCCACGGGCCCCAGGAAGAGCAGC	A	C136676051T	AGPAT2	NM_006412.4(AGPAT2):c.366_588+534del	noncoding	Pathogenic
9	136676634	TC	T	C136676638A	AGPAT2	NM_006412.4(AGPAT2):c.538del:p.Asp180fs	coding	Pathogenic
9	136676659	CG	C	G136676662A	AGPAT2	NM_006412.4(AGPAT2):c.513del:p.Glu172fs	coding	Pathogenic
9	136677032	TGAA	T	A136677038C	AGPAT2	NM_006412.4(AGPAT2):c.415_417TTC[1]:p.Phe140del	coding	Pathogenic
9	136677075	C	CA	G136677077A	AGPAT2	NM_006412.4(AGPAT2):c.377dup:p.Pro128fs	coding	Pathogenic
9	136677456	CG	C	G136677457A	AGPAT2	NM_006412.4(AGPAT2):c.282del:p.Ile94fs	coding	Pathogenic
9	136687306	C	CCAG	A136687321G	AGPAT2	NM_006412.4(AGPAT2):c.40_42CTG[5]:p.Leu17dup	coding	Benign/Likely_benign
9	137012889	AC	A	C137012891A	ABCA2	NM_001606.5(ABCA2):c.4903del:p.Val1635fs	coding	Pathogenic
9	137013464	TACTCGCGGCG	C	T137013464C	ABCA2	NM_001606.5(ABCA2):c.4537_4547delinsG:p.Arg1513fs	coding	Pathogenic
9	137021918	T	TA	G137021920A	ABCA2	NM_001606.5(ABCA2):c.650dup:p.Gly218fs	coding	Pathogenic
9	137087177	T	TA	T137087179A	MAN1B1	NM_016219.5(MAN1B1):c.179dup:p.Tyr60Ter	coding	Pathogenic
9	137099722	GTGAT	G	T137099726C	MAN1B1	NM_016219.5(MAN1B1):c.761_764del:p.Ile254fs	coding	Pathogenic
9	137106142	GAC	G	C137106146G	MAN1B1	NM_016219.5(MAN1B1):c.1274_1275CA[1]:p.Gln426fs	coding	Pathogenic
9	137106178	TG	T	G137106181C	MAN1B1	NM_016219.5(MAN1B1):c.1311del:p.Leu438fs	coding	Pathogenic
9	137106314	CAGTG	C	T137106317G	MAN1B1	NM_016219.5(MAN1B1):c.1445+2_1445+5del	coding	Pathogenic
9	137107598	CAG	C	A137107599G	MAN1B1	NM_016219.5(MAN1B1):c.1833_1834del:p.Asp613fs	coding	Pathogenic
9	137145528	AGTGTCCCCAGGGTGGTAGGGACGGGGTGGGAGACACGAGGGGGTCCCAGGGTCTAGAAC	A	G137145538T	GRIN1	NM_007327.4(GRIN1):c.394-188_394-130del	noncoding	Benign
9	137145550	C	CA	G137145551A	GRIN1	NM_007327.4(GRIN1):c.394-176_394-175insA	noncoding	Benign
9	137156379	CCCCTGCTCCCCCAAGGTAAGGGCCAGCATCTAACCCCAT	C	C137156402G	GRIN1	NM_007327.4(GRIN1):c.672-267_672-229del	noncoding	Benign
9	137161195	GC	G	C137161197G	GRIN1	NM_007327.4(GRIN1):c.1342del:p.Arg448fs	coding	Pathogenic
9	137161691	CTGGAGTGGGCGGGACG	C	A137161705G	GRIN1	NM_007327.4(GRIN1):c.1468-219_1468-204del	noncoding	Benign
9	137162216	G	GAGC	C137162221G	GRIN1	NM_007327.4(GRIN1):c.1679_1681dup:p.Ser560dup	coding	Pathogenic
9	137162502	C	CCGGCAT	G137162512C	GRIN1	NM_007327.4(GRIN1):c.1854_1859dup:p.Ile619_Gly620dup	coding	Pathogenic
9	137192569	CTCT	C	T137192572C	TPRN	NM_001128228.3(TPRN):c.1845_1847del:p.Glu621del	coding	Benign
9	137192572	TTCC	T	C137192598G	TPRN	NM_001128228.3(TPRN):c.1818_1820GGA[8]:p.Glu621del	coding	Benign
9	137192572	TTCCTCC	T	C137192595G	TPRN	NM_001128228.3(TPRN):c.1818_1820GGA[7]:p.Glu620_Glu621del	coding	Benign/Likely_benign
9	137192572	T	TTCC	G137192601C	TPRN	NM_001128228.3(TPRN):c.1818_1820GGA[10]:p.Glu621dup	coding	Benign
9	137199181	TC	T	C137199184T	TPRN	NM_001128228.3(TPRN):c.1530del:p.Thr511fs	coding	Pathogenic
9	137199284	CG	C	G137199287A	TPRN	NM_001128228.3(TPRN):c.1427del:p.Pro476fs	coding	Pathogenic
9	137200474	G	GCAGCCGCGCCC	C137200487A	TPRN	NM_001128228.3(TPRN):c.227_237dup:p.Leu80fs	coding	Pathogenic
9	137200476	AGCCGCGCCCCC	A	C137200496G	TPRN	NM_001128228.3(TPRN):c.214_224GGGGGCGCGGC[1]:p.Gly76fs	coding	Pathogenic
9	137232126	TC	T	C137232129T	SLC34A3	NM_001177316.2(SLC34A3):c.143del:p.Pro48fs	coding	Pathogenic
9	137232607	GC	G	C137232609G	SLC34A3	NM_001177316.2(SLC34A3):c.210del:p.Gly71fs	coding	Pathogenic
9	137232625	GC	G	C137232627T	SLC34A3	NM_001177316.2(SLC34A3):c.228del:p.Cys77fs	coding	Pathogenic
9	137233358	A	AC	A137233360C	SLC34A3	NM_001177316.2(SLC34A3):c.711dup:p.Ile238fs	coding	Pathogenic
9	137233909	AGAACAGCACAGCCCCGGCGGACAGGCTGCCCTGTGAGGCCCGGCCCACCCCAAGCCCCCTACACCCCCCACACTCCCCCTCACCGGCCCCTACATGGAGAG	A	A137233961G	SLC34A3	NM_001177316.2(SLC34A3):c.925+20_926-48del	coding	Pathogenic
9	137233920	GC	G	C137233924G	SLC34A3	NM_001177316.2(SLC34A3):c.908del:p.Pro303fs	coding	Pathogenic
9	137234300	GTGGCCAGGGCTGACCCAGCATCCCCCATAGACTTCCCCTTCCCACCAGGCTGACTCGGGGGCTACCTGGCCCTCCTTGTGGGCGC	G	A137234317G	SLC34A3	NM_001177316.2(SLC34A3):c.1093+41_1094-15del	noncoding	Pathogenic
9	137236117	CT	C	T137236118G	SLC34A3	NM_001177316.2(SLC34A3):c.1502del:p.Leu501fs	coding	Pathogenic
9	137236167	C	CG	T137236173G	SLC34A3	NM_001177316.2(SLC34A3):c.1556dup:p.Pro520fs	coding	Pathogenic
9	137236249	CGCCTGCGCTCCTGG	C	C137236255G	SLC34A3	NM_001177316.2(SLC34A3):c.1639_1652del:p.Arg547fs	coding	Pathogenic
9	137253370	GATGCACCCTTCTGGCTGGCCAACCCTTCT	G	C137253374G	STPG3	NM_001256699.1(STPG3):c.1072_1100del:p.His358fs	coding	Benign
9	137710979	A	AG	A137710986G	EHMT1	NM_024757.5(EHMT1):c.40dup:p.Glu14fs	coding	Pathogenic
9	137716721	AGCGATGCCA	CCATT	A137716721C	EHMT1	NM_024757.5(EHMT1):c.181_190delinsCCATT:p.Ser61fs	coding	Pathogenic
9	137716894	TG	T	G137716895T	EHMT1	NM_024757.5(EHMT1):c.355del:p.Val119fs	coding	Pathogenic
9	137716929	CG	C	G137716931C	EHMT1	NM_024757.5(EHMT1):c.391del:p.Ala131fs	coding	Pathogenic
9	137716956	C	CT	A137716958T	EHMT1	NM_024757.5(EHMT1):c.417dup:p.Thr140fs	coding	Pathogenic
9	137717044	TC	T	C137717048A	EHMT1	NM_024757.5(EHMT1):c.508del:p.Gln170fs	coding	Pathogenic
9	137728387	TA	T	A137728388G	EHMT1	NM_024757.5(EHMT1):c.682del:p.Arg228fs	coding	Pathogenic
9	137728456	A	AC	T137728463C	EHMT1	NM_024757.5(EHMT1):c.756dup:p.Phe253fs	coding	Pathogenic
9	137728456	AC	A	C137728462T	EHMT1	NM_024757.5(EHMT1):c.756del:p.Phe253fs	coding	Pathogenic
9	137743352	CTTT	C	T137743366A	EHMT1	NM_024757.5(EHMT1):c.824-5_824-3del	noncoding	Benign/Likely_benign
9	137743978	CAG	C	A137743981G	EHMT1	NM_024757.5(EHMT1):c.1059_1060AG[1]:p.Glu354fs	coding	Pathogenic
9	137744041	A	AC	A137744043C	EHMT1	NM_024757.5(EHMT1):c.1122dup:p.Ser375fs	coding	Pathogenic
9	137754183	AG	A	G137754184C	EHMT1	NM_024757.5(EHMT1):c.1262del:p.Ser421fs	coding	Pathogenic
9	137754212	AG	A	G137754214A	EHMT1	NM_024757.5(EHMT1):c.1292del:p.Gly431fs	coding	Pathogenic
9	137754266	TAGAA	T	A137754271G	EHMT1	NM_024757.5(EHMT1):c.1345_1348AGAA[1]:p.Lys450fs	coding	Pathogenic
9	137757918	CAGACGGCACCAGG	C	G137757923A	EHMT1	NM_024757.5(EHMT1):c.1413_1425del:p.Pro473fs	coding	Pathogenic
9	137757943	GGT	G	G137757944A	EHMT1	NM_024757.5(EHMT1):c.1434_1435del:p.Tyr479fs	coding	Pathogenic
9	137758004	AG	A	G137758005C	EHMT1	NM_024757.5(EHMT1):c.1495del:p.Ala499fs	coding	Pathogenic
9	137762701	GAGAC	G	A137762706G	EHMT1	NM_024757.5(EHMT1):c.1529_1532AGAC[1]:p.Asp512fs	coding	Pathogenic
9	137762710	GGCCTCCAGGAAGT	G	C137762716T	EHMT1	NM_024757.5(EHMT1):c.1543_1555del:p.Gln515fs	coding	Pathogenic
9	137762774	C	CA	C137762776A	EHMT1	NM_024757.5(EHMT1):c.1602dup:p.Leu535fs	coding	Pathogenic
9	137775144	G	GCTGATGCGCCCCTCCAACAAGGCCC	G137775171T	EHMT1	NM_024757.5(EHMT1):c.1685_1709dup:p.Leu571fs	coding	Pathogenic
9	137777888	C	CG	C137777892G	EHMT1	NM_024757.5(EHMT1):c.2028dup:p.Pro677fs	coding	Pathogenic
9	137777939	G	GC	G137777943C	EHMT1	NM_024757.5(EHMT1):c.2079dup:p.Glu694fs	coding	Pathogenic
9	137778049	C	CG	A137778052G	EHMT1	NM_024757.5(EHMT1):c.2188dup:p.Glu730fs	coding	Pathogenic
9	137779638	CA	C	A137779640G	EHMT1	NM_024757.5(EHMT1):c.2198del:p.Lys733fs	coding	Pathogenic
9	137779655	A	ACCCAAAGCAGCTGTACT	T137779673C	EHMT1	NM_024757.5(EHMT1):c.2214_2230dup:p.Phe744fs	coding	Pathogenic
9	137779663	CA	C	A137779664G	EHMT1	NM_024757.5(EHMT1):c.2222del:p.Gln741fs	coding	Pathogenic
9	137779665	GC	G	C137779666T	EHMT1	NM_024757.5(EHMT1):c.2224del:p.Leu742fs	coding	Pathogenic
9	137790896	ATGGA	TGGG	A137790896T	EHMT1	NM_024757.5(EHMT1):c.2431_2435delinsTGGG:p.Met811fs	coding	Pathogenic
9	137811607	CTG	C	G137811611C	EHMT1	NM_024757.5(EHMT1):c.2861_2862GT[1]:p.Val955fs	coding	Pathogenic
9	137813007	CTCTT	C	T137813015C	EHMT1	NM_024757.5(EHMT1):c.2873_2876TTCT[1]:p.Ser960fs	coding	Pathogenic
9	137813113	GC	G	C137813114A	EHMT1	NM_024757.5(EHMT1):c.2976del:p.Ser992fs	coding	Pathogenic
9	137813421	CCT	C	C137813422G	EHMT1	NM_024757.5(EHMT1):c.3072_3073del:p.Val1026fs	coding	Pathogenic
9	137813471	GTC	G	T137813476A	EHMT1	NM_024757.5(EHMT1):c.3122_3123TC[2]:p.Gln1043fs	coding	Pathogenic
9	137814350	CTGGAAGACGTAGTTGTGACTGGGAGGGGAAATGGAAGGCCTGTGCCTGCACGTCTGACCCCCCGGCGCCTCTCTTCTCAGTACTGCGTGTGCATCGACGACTGCTCCTCCAGCAACTGCATGTGCGGCCAGCT	C	T137814351C	EHMT1	NM_024757.5(EHMT1):c.3181-80_3233del	noncoding	Pathogenic
9	137814507	AG	A	G137814509T	EHMT1	NM_024757.5(EHMT1):c.3258+1del	coding	Pathogenic
9	137815957	T	TC	T137815960C	EHMT1	NM_024757.5(EHMT1):c.3271dup:p.Leu1091fs	coding	Pathogenic
9	137816008	ACGCG	A	C137816009T	EHMT1	NM_024757.5(EHMT1):c.3321_3324del:p.Cys1109fs	coding	Pathogenic
9	137816009	CGCGTG	TT	C137816009T	EHMT1	NM_024757.5(EHMT1):c.3321_3326delinsTT:p.Ala1108fs	coding	Pathogenic
9	137816030	C	AAG	C137816030A	EHMT1	NM_024757.5(EHMT1):c.3342delinsAAG:p.Asn1114fs	coding	Pathogenic
9	137817423	ACT	A	C137817428A	EHMT1	NM_024757.5(EHMT1):c.3375-15CT[2]	noncoding	Benign
9	137817505	AC	A	C137817507A	EHMT1	NM_024757.5(EHMT1):c.3443del:p.Pro1148fs	coding	Pathogenic
9	137817516	TTGTC	T	T137817519C	EHMT1	NM_024757.5(EHMT1):c.3455_3458del:p.Val1152fs	coding	Pathogenic
9	137818116	AC	A	C137818118T	EHMT1	NM_024757.5(EHMT1):c.3520del:p.Leu1174fs	coding	Pathogenic
9	137834335	T	TTC	G137834340T	EHMT1	NM_024757.5(EHMT1):c.3541-13TC[3]	noncoding	Benign
9	138023718	TGGAGAAGGAGACCAC	T	A138023729G	CACNA1B	NM_000718.4(CACNA1B):c.2986_3000del:p.Thr996_Glu1000del	coding	Benign
9	138047427	CTG	C	T138047428G	CACNA1B	NM_000718.4(CACNA1B):c.3573_3574del:p.Gly1192fs	coding	Pathogenic
9	138049269	CT	C	T138049270G	CACNA1B	NM_000718.4(CACNA1B):c.3665del:p.Leu1222fs	coding	Pathogenic
10	209977	C	CT	A209979T	ZMYND11	NM_001370124.1(ZMYND11):c.-33-26860dup	coding	Pathogenic
10	221300	TC	T	C221301T	ZMYND11	NM_006624.5(ZMYND11):c.383del:p.Ser128fs	coding	Pathogenic
10	236855	TACAA	T	A236863G	ZMYND11	NM_001370124.1(ZMYND11):c.-12_-9AACA[1]	coding	Pathogenic
10	237628	TG	T	G237629T	ZMYND11	NM_006624.7(ZMYND11):c.561del:p.Met187fs	coding	Pathogenic
10	239439	AAGTG	A	G239441A	ZMYND11	NM_001370100.5(ZMYND11):c.613_616del:p.Val205fs	coding	Pathogenic
10	240055	GCAGA	G	A240059T	ZMYND11	NM_001370100.5(ZMYND11):c.701_704del:p.Asp234fs	coding	Pathogenic
10	240093	TAA	T	A240095G	ZMYND11	NM_001370122.1(ZMYND11):c.448-798_448-797del	coding	Pathogenic
10	240097	G	GA	C240099A	ZMYND11	NM_001370100.5(ZMYND11):c.740dup:p.Asp247fs	coding	Pathogenic
10	248352	CAG	C	G248354A	ZMYND11	NM_006624.5(ZMYND11):c.1246_1247del:p.Glu416fs	coding	Pathogenic
10	248422	TCAGA	T	G248425A	ZMYND11	NM_001370100.5(ZMYND11):c.1317_1320del:p.Thr440fs	coding	Pathogenic
10	248447	TCAC	T	C248450A	ZMYND11	NM_001370100.5(ZMYND11):c.1342_1344del:p.Pro448del	coding	Benign
10	249052	C	CA	G249055A	ZMYND11	NM_006624.5(ZMYND11):c.1652dup:p.Gln552fs	coding	Pathogenic
10	252416	CCAG	C	C252420G	ZMYND11	NM_006624.5(ZMYND11):c.1756_1758CAG[1]:p.Gln587del	coding	Pathogenic
10	3151365	TAAAAAAGAAACAA	T	A3151366G	PITRM1	NM_014889.4(PITRM1):c.1622-15_1622-3del	noncoding	Benign
10	3159050	G	GA	G3159060A	PITRM1	NM_014889.4(PITRM1):c.1008-17dup	noncoding	Benign
10	3166389	G	GA	G3166390A	PITRM1	NM_014889.4(PITRM1):c.267-10_267-9insT	noncoding	Benign
10	6019462	C	CT	C6019464T	IL2RA	NM_000417.2(IL2RA):c.692dup:p.Thr232fs	coding	Pathogenic
10	6062086	ACCTG	A	C6062091G	IL2RA	NM_000417.2(IL2RA):c.62_64+1del	noncoding	Pathogenic
10	8054906	CT	C	T8054919A	GATA3	NM_001002295.2(GATA3):c.-370+28del	noncoding	Benign
10	8055762	TGG	T	G8055763A	GATA3	NM_001002295.2(GATA3):c.108_109del:p.Met36fs	coding	Pathogenic
10	8058385	AC	A	C8058387G	GATA3	NM_001002295.2(GATA3):c.324del:p.Ala109fs	coding	Pathogenic
10	8058488	C	CG	C8058495G	GATA3	NM_001002295.2(GATA3):c.431dup:p.His145fs	coding	Pathogenic
10	8058488	CG	C	G8058494C	GATA3	NM_001002295.2(GATA3):c.431del:p.Gly144fs	coding	Pathogenic
10	8058539	AG	A	G8058541A	GATA3	NM_001002295.2(GATA3):c.478del:p.Asp160fs	coding	Pathogenic
10	8058649	CT	C	T8058650G	GATA3	NM_001002295.2(GATA3):c.587del:p.Leu196fs	coding	Pathogenic
10	8058706	A	AC	A8058710C	GATA3	NM_001002295.2(GATA3):c.646dup:p.His216fs	coding	Pathogenic
10	8058727	T	TACCCGCCCTACGTGCCCACCACCCCATCAGCACTC	G8058745A	GATA3	NM_001002295.2(GATA3):c.681_682insACCACCCCATCAGCACTCACCCGCCCTACGTGCCC:p.Glu228fs	coding	Pathogenic
10	8058741	G	GC	G8058745C	GATA3	NM_001002295.2(GATA3):c.681dup:p.Glu228fs	coding	Pathogenic
10	8058762	C	CT	C8058765T	GATA3	NM_001002295.2(GATA3):c.701dup:p.Ser237fs	coding	Pathogenic
10	8058764	TC	T	C8058771A	GATA3	NM_001002295.2(GATA3):c.708del:p.Ser237fs	coding	Pathogenic
10	8058764	T	TC	A8058772C	GATA3	NM_001002295.2(GATA3):c.708dup:p.Ser237fs	coding	Pathogenic
10	8058796	A	CC	A8058796C	GATA3	NM_001002295.2(GATA3):c.733delinsCC:p.Thr245fs	coding	Pathogenic
10	8064140	T	GCTTACTTCCC	T8064140G	GATA3	NM_001002295.2(GATA3):c.924+2delinsGCTTACTTCCC	noncoding	Pathogenic
10	12084695	G	GA	G12084697A	DHTKD1	NM_018706.7(DHTKD1):c.467dup:p.Thr157fs	coding	Pathogenic/Likely_pathogenic
10	12089015	TG	T	G12089016A	DHTKD1	NM_018706.7(DHTKD1):c.748del:p.Glu250fs	coding	Pathogenic
10	12118801	CAA	C	A12118803G	DHTKD1	NM_018706.7(DHTKD1):c.2457_2458del:p.Glu821fs	coding	Pathogenic
10	12898429	TA	T	A12898430G	CCDC3	NM_031455.4(CCDC3):c.799del:p.Tyr267fs	coding	Benign
10	13109191	AC	A	C13109198A	OPTN	NM_001008212.2(OPTN):c.76del:p.His26fs	coding	Pathogenic
10	13109279	C	CAGCT	G13109284A	OPTN	NM_001008212.2(OPTN):c.158_161dup:p.Lys55fs	coding	Pathogenic
10	13112464	T	TAG	G13112465A	OPTN	NM_001008212.2(OPTN):c.381_382insAG:p.Asp128fs	coding	Pathogenic
10	13125493	CAA	C	A13125497G	OPTN	NM_001008212.2(OPTN):c.1078_1079del:p.Lys360fs	coding	Pathogenic/Likely_pathogenic
10	13126013	AC	A	C13126014A	OPTN	NM_001008212.2(OPTN):c.1217del:p.Thr406fs	coding	Pathogenic
10	13278111	GT	G	T13278121C	PHYH	NM_006214.4(PHYH):c.*189del	noncoding	Benign
10	13291922	C	CA	C13291933A	PHYH	NM_006214.4(PHYH):c.415-20dup	noncoding	Benign
10	13294465	TCC	T	C13294466T	PHYH	NM_006214.4(PHYH):c.375_376del:p.Glu126fs	coding	Pathogenic
10	13295576	CA	C	A13295577G	PHYH	NM_006214.4(PHYH):c.164del:p.Leu55fs	coding	Pathogenic
10	13656923	T	TCGC	G13656939C	FRMD4A	NM_018027.5(FRMD4A):c.2651_2653GCG[6]:p.Gly888dup	coding	Benign
10	13657133	CCGCCCCCCG	C	G13657153A	FRMD4A	NM_018027.5(FRMD4A):c.2429_2437CGGGGGGCG[2]:p.810_812AGG[2]	coding	Benign
10	13657442	C	CCCTGGGACTCCAG	G13657456C	FRMD4A	NM_018027.5(FRMD4A):c.2134_2146dup:p.Gly716fs	coding	Pathogenic
10	14907857	CT	C	T14907878G	DCLRE1C	NM_001033855.3(DCLRE1C):c.*550del	noncoding	Benign
10	14908817	G	GT	A14908819T	DCLRE1C	NM_001033855.3(DCLRE1C):c.1669dup:p.Thr557fs	coding	Pathogenic
10	14909130	CACAATCT	C	T14909135A	DCLRE1C	NM_001033855.3(DCLRE1C):c.1350_1356del:p.Asp451fs	coding	Pathogenic
10	14932852	AC	A	C14932854T	DCLRE1C	NM_001033855.3(DCLRE1C):c.780+1del	noncoding	Pathogenic
10	14934429	TA	T	A14934431G	DCLRE1C	NM_001033855.3(DCLRE1C):c.628del:p.Tyr210fs	coding	Pathogenic
10	14934758	C	CT	G14934762T	DCLRE1C	NM_001033855.3(DCLRE1C):c.481dup:p.Ser161fs	coding	Pathogenic
10	14935465	GC	G	C14935470G	DCLRE1C	NM_001033855.3(DCLRE1C):c.461del:p.Gly154fs	coding	Pathogenic
10	14935477	C	CA	G14935479A	DCLRE1C	NM_001033855.3(DCLRE1C):c.449dup:p.His151fs	coding	Pathogenic
10	15597243	C	CA	C15597245A	ITGA8	NM_003638.3(ITGA8):c.2174dup:p.Cys726fs	coding	Pathogenic
10	15607814	GCACCT	G	A15607816T	ITGA8	NM_003638.3(ITGA8):c.1622_1626del:p.Glu541fs	coding	Pathogenic
10	15789328	G	GA	T15789335A	MINDY3	NM_024948.4(MINDY3):c.956-15dup	noncoding	Benign
10	15821734	AAAC	A	C15821749A	MINDY3	NM_024948.4(MINDY3):c.731-23GTT[4]	noncoding	Benign
10	16695165	G	GA	G16695166A	RSU1	NM_012425.4(RSU1):c.599-11_599-10insT	noncoding	Benign
10	16918687	ATAACCTC	A	A16918689C	CUBN	NM_001081.3(CUBN):c.6928_6934del:p.Glu2310fs	coding	Pathogenic
10	16939095	GA	G	A16939098G	CUBN	NM_001081.3(CUBN):c.5600del:p.Phe1867fs	coding	Pathogenic
10	16939122	TC	T	C16939125A	CUBN	NM_001081.4(CUBN):c.5573del:p.Gly1858fs	coding	Pathogenic
10	16940068	C	CA	G16940070A	CUBN	NM_001081.3(CUBN):c.5511dup:p.Gly1838fs	coding	Pathogenic
10	17068588	AGGGAACAG	A	G17068589T	CUBN	NM_001081.4(CUBN):c.2791+9_2791+16del	noncoding	Benign
10	17071435	ATC	A	C17071437G	CUBN	NM_001081.4(CUBN):c.2614_2615del:p.Asp872fs	coding	Pathogenic/Likely_pathogenic
10	17071554	G	GA	G17071562A	CUBN	NM_001081.4(CUBN):c.2496dup:p.Pro833fs	coding	Pathogenic
10	17088245	AG	A	G17088246T	CUBN	NM_001081.3(CUBN):c.1865del:p.Thr622fs	coding	Pathogenic
10	17104524	TCAAA	T	A17104527C	CUBN	NM_001081.3(CUBN):c.1308_1311del:p.Glu435_Cys436insTer	coding	Pathogenic
10	17229435	TC	T	C17229437G	VIM	NM_003380.5(VIM):c.15del:p.Val6fs	coding	Pathogenic/Likely_pathogenic
10	17604049	T	TA	G17604061A	HACD1	NM_014241.4(HACD1):c.258-13dup	noncoding	Benign
10	17961572	CT	C	T17961574C	SLC39A12	NM_001145195.2(SLC39A12):c.262-7del	noncoding	Benign
10	17991141	T	TC	T17991146C	SLC39A12	NM_001145195.2(SLC39A12):c.1270-6dup	noncoding	Benign
10	18150879	T	TG	T18150880G	CACNB2	NM_201596.3(CACNB2):c.121-4_121-3insG	noncoding	Benign
10	18515325	CCTTT	C	C18515326T	CACNB2	NM_201596.3(CACNB2):c.804+957_804+960del	noncoding	Benign
10	18539740	GT	G	T18539759G	CACNB2	NM_201596.3(CACNB2):c.*35del	noncoding	Benign
10	20809899	CT	C	T20809903G	NEBL	NM_213569.2(NEBL):c.529+2869del	noncoding	Benign
10	20888214	GA	G	A20888223C	NEBL	NM_006393.3(NEBL):c.259-8del	noncoding	Benign
10	20888214	G	GA	C20888224A	NEBL	NM_006393.3(NEBL):c.259-16dup	noncoding	Benign
10	23193229	C	CG	C23193236G	PTF1A	NM_178161.3(PTF1A):c.705dup:p.Pro236fs	coding	Pathogenic
10	23193229	CG	C	G23193235C	PTF1A	NM_178161.3(PTF1A):c.705del:p.Pro236fs	coding	Pathogenic
10	24594993	G	GAAAGGAACTTAAGTGTTTCATAATGATGTTCAGGCAAATCGTGAATCTGAAACA	G24595048A	ARHGAP21	NM_020824.4(ARHGAP21):c.3787-8_3832dup	coding	Benign
10	25997137	TTA	T	A25997143T	MYO3A	NM_017433.5(MYO3A):c.409-21TA[2]	noncoding	Benign
10	26068818	CG	TA	C26068818T	MYO3A	NM_017433.5(MYO3A):c.1104_1105delinsTA:p.Val369Ile	coding	Benign
10	26088211	CAG	C	G26088213A	MYO3A	NM_017433.5(MYO3A):c.1370_1371del:p.Arg457fs	coding	Pathogenic
10	26173709	GAA	G	A26173711G	MYO3A	NM_017433.5(MYO3A):c.3447_3448del:p.Arg1150fs	coding	Pathogenic
10	26174211	T	TA	T26174213A	MYO3A	NM_017433.5(MYO3A):c.3948dup:p.Cys1317fs	coding	Pathogenic
10	26193270	TTAAA	T	A26193274C	MYO3A	NM_017433.5(MYO3A):c.4508_4511del:p.Asn1503fs	coding	Pathogenic/Likely_pathogenic
10	26704668	AT	A	T26704672A	PDSS1	NM_014317.5(PDSS1):c.163-5del	noncoding	Benign/Likely_benign
10	26723857	C	CT	G26723858T	PDSS1	NM_014317.5(PDSS1):c.661_662insT:p.Arg221fs	coding	Pathogenic
10	26735520	AC	A	C26735521A	PDSS1	NM_014317.5(PDSS1):c.968del:p.Thr323fs	coding	Pathogenic
10	26742463	AGATT	A	G26742464T	PDSS1	NM_014317.5(PDSS1):c.1027-33_1027-30del	noncoding	Benign
10	27053356	CTCT	C	T27053363G	ANKRD26	NM_001256053.1(ANKRD26):c.1590_1592AGA[2]:p.Glu533del	coding	Benign/Likely_benign
10	27066477	TAGA	T	G27066479A	ANKRD26	NM_014915.3(ANKRD26):c.1269+7_1269+9del	noncoding	Benign
10	27134126	GGA	G	G27134131A	YME1L1	NM_014263.4(YME1L1):c.692-10TC[2]	noncoding	Benign
10	27413327	G	GC	A27413334C	PTCHD3	NM_001034842.3(PTCHD3):c.923dup:p.Ser309fs	coding	Benign
10	27533727	T	TA	T27533729A	RAB18	NM_021252.5(RAB18):c.260-7dup	noncoding	Benign
10	27533747	CAAG	C	A27533752G	RAB18	NM_021252.5(RAB18):c.274_276AGA[1]:p.Arg93del	coding	Pathogenic
10	27541854	G	GT	G27541855T	RAB18	NM_021252.5(RAB18):c.*3803_*3804insT	noncoding	Benign
10	27862520	TG	T	G27862522C	ODAD2	NM_018076.5(ODAD2):c.2712del:p.Ile905fs	coding	Pathogenic
10	27935098	CA	C	A27935100G	ODAD2	NM_018076.5(ODAD2):c.2406del:p.Leu802_Val803insTer	coding	Pathogenic
10	27944440	GA	G	A27944449G	ODAD2	NM_018076.5(ODAD2):c.1534-10del	noncoding	Benign
10	27944440	G	GA	G27944450A	ODAD2	NM_018076.5(ODAD2):c.1534-18dup	noncoding	Benign
10	27961685	AAC	A	C27961687G	ODAD2	NM_018076.5(ODAD2):c.1267_1268del:p.Thr422_Val423insTer	coding	Pathogenic
10	27981543	TTC	T	T27981548A	ODAD2	NM_018076.5(ODAD2):c.853_854GA[2]:p.Arg286fs	coding	Pathogenic
10	27985029	G	GT	A27985034T	ODAD2	NM_018076.5(ODAD2):c.564dup:p.His189fs	coding	Pathogenic
10	28535594	TA	T	A28535595G	WAC	NM_016628.5(WAC):c.112del:p.Ser38fs	coding	Pathogenic
10	28535684	CAA	C	A28535686T	WAC	NM_016628.5(WAC):c.203_204del:p.Lys68fs	coding	Pathogenic
10	28535732	TCA	T	C28535735G	WAC	NM_016628.5(WAC):c.250_251CA[1]:p.His84fs	coding	Pathogenic
10	28535733	C	CAA	C28535735A	WAC	NM_016628.5(WAC):c.251_252insAA:p.His84fs	coding	Pathogenic
10	28535739	GTT	G	T28535740A	WAC	NM_016628.5(WAC):c.257_258del:p.Val86fs	coding	Pathogenic
10	28535741	TAGAG	T	A28535746G	WAC	NM_016628.5(WAC):c.259_260AG[2]:p.Glu88fs	coding	Pathogenic
10	28535748	A	AGG	A28535752G	WAC	NM_016628.5(WAC):c.267_268dup:p.Asp90fs	coding	Pathogenic
10	28583432	AC	A	C28583434A	WAC	NM_016628.5(WAC):c.310del:p.His104fs	coding	Pathogenic
10	28583436	C	CA	G28583438A	WAC	NM_016628.5(WAC):c.313dup:p.Ser105fs	coding	Pathogenic
10	28595788	TCAAA	T	A28595792G	WAC	NM_016628.5(WAC):c.670_673del:p.Thr224fs	coding	Pathogenic
10	28595971	T	TG	A28595974G	WAC	NM_016628.5(WAC):c.851dup:p.Ala285fs	coding	Pathogenic
10	28595972	G	GGAGCATCTACTTTATC	A28595989G	WAC	NM_016628.5(WAC):c.851_866dup:p.Lys290fs	coding	Pathogenic
10	28608424	AAATG	A	T28608427G	WAC	NM_016628.5(WAC):c.1161_1164del:p.Asn387fs	coding	Pathogenic
10	28610703	T	TA	C28610705A	WAC	NM_016628.5(WAC):c.1171dup:p.Thr391fs	coding	Pathogenic
10	28614594	CCAGTGTCA	C	G28614599C	WAC	NM_016628.5(WAC):c.1470_1477del:p.Gln492fs	coding	Pathogenic
10	28616319	T	TA	C28616324A	WAC	NM_016628.5(WAC):c.1707dup:p.His570fs	coding	Pathogenic
10	28617724	T	TA	T28617731A	WAC	NM_016628.5(WAC):c.1820dup:p.Asn607fs	coding	Pathogenic
10	28619543	ATT	A	T28619547G	WAC	NM_016628.5(WAC):c.1885_1886del:p.Leu629fs	coding	Pathogenic
10	29499200	TCA	T	C29499203G	SVIL	NM_003174.3(SVIL):c.2300_2301del:p.Val767fs	coding	Pathogenic
10	31461077	AGAT	A	T31461083A	ZEB1	NM_030751.6(ZEB1):c.102_104TGA[1]:p.Asp35del	coding	Benign
10	31520662	ACAAT	A	C31520667G	ZEB1	NM_030751.6(ZEB1):c.1328_1331CAAT[1]:p.Ile444fs	coding	Pathogenic
10	31520904	A	AG	T31520912G	ZEB1	NM_030751.6(ZEB1):c.1576dup:p.Val526fs	coding	Pathogenic
10	31526804	CTG	C	T31526805G	ZEB1	NM_030751.6(ZEB1):c.2916_2917del:p.Gly973fs	coding	Pathogenic
10	31527081	AGAG	A	G31527096A	ZEB1	NM_030751.6(ZEB1):c.3195_3197GGA[4]:p.Glu1071del	coding	Benign
10	43106397	C	CG	T43106399G	RET	NM_020975.6(RET):c.890dup:p.Val298fs	coding	Pathogenic
10	43106442	AGGCG	A	G43106444T	RET	NM_020975.6(RET):c.936_939del:p.Arg312fs	coding	Pathogenic
10	43109115	GC	G	C43109118A	RET	NM_020975.6(RET):c.1151del:p.Pro384fs	coding	Pathogenic
10	43111218	CTG	C	T43111223G	RET	NM_020975.6(RET):c.1276_1277TG[2]:p.Val427fs	coding	Pathogenic
10	43111366	C	CG	C43111369G	RET	NM_020975.6(RET):c.1425dup:p.Pro476fs	coding	Pathogenic
10	43111454	TGGAGGG	T	G43111456T	RET	NM_020975.6(RET):c.1513_1518del:p.Glu505_Gly506del	coding	Pathogenic
10	43112120	GC	CT	G43112120C	RET	NM_020975.6(RET):c.1544_1545delinsCT:p.Cys515Ser	coding	Pathogenic
10	43112153	T	TGGAGTGTGA	G43112171A	RET	NM_020975.6(RET):c.1586_1594dup:p.Glu529_Cys531dup	coding	Pathogenic
10	43113628	GC	AT	G43113628A	RET	NM_020975.6(RET):c.1832_1833delinsAT:p.Cys611Tyr	coding	Pathogenic
10	43113628	GC	CT	G43113628C	RET	NM_020975.6(RET):c.1832_1833delinsCT:p.Cys611Ser	coding	Pathogenic
10	43113628	GC	TT	G43113628T	RET	NM_020975.6(RET):c.1832_1833delinsTT:p.Cys611Phe	coding	Pathogenic
10	43113653	CT	TC	C43113653T	RET	NM_020975.6(RET):c.1857_1858delinsTC:p.Cys620Arg	coding	Pathogenic
10	43114491	G	GACGAGCTGTGCC	G43114504A	RET	NM_020975.6(RET):c.1892_1903dup:p.Arg635_Thr636insHisGluLeuCys	coding	Pathogenic
10	43114496	GCTGT	CGTGC	G43114496C	RET	NM_020975.6(RET):c.1896_1900delinsCGTGC:p.Glu632_Cys634delinsAspValArg	coding	Pathogenic
10	43114498	T	TGTGCCGCAC	G43114509T	RET	NM_020975.6(RET):c.1900_1908dup:p.Cys634_Thr636dup	coding	Pathogenic
10	43114500	TG	CT	T43114500C	RET	NM_020975.6(RET):c.1900_1901delinsCT:p.Cys634Leu	coding	Pathogenic
10	43114501	GC	TG	G43114501T	RET	NM_020975.6(RET):c.1901_1902delinsTG:p.Cys634Leu	coding	Pathogenic
10	43114506	A	GACCTGTGCCGCC	A43114506G	RET	NM_020975.6(RET):c.1906delinsGACCTGTGCCGCC:p.Thr636delinsAspLeuCysArgPro	coding	Pathogenic
10	43114598	G	TTCT	G43114598T	RET	NM_020975.6(RET):c.1998delinsTTCT:p.Lys666delinsAsnSer	coding	Pathogenic
10	43119721	GATGCAGT	G	G43119724C	RET	NM_020975.6(RET):c.2586_2592del:p.Met862fs	coding	Pathogenic
10	43120102	GC	G	C43120104A	RET	NM_020975.6(RET):c.2631del:p.Arg878fs	coding	Pathogenic
10	43120120	GC	TT	G43120120T	RET	NM_020975.6(RET):c.2647_2648delinsTT:p.Ala883Phe	coding	Pathogenic/Likely_pathogenic
10	43123705	AC	A	C43123708T	RET	NM_020975.6(RET):c.2839del:p.Thr946_Leu947insTer	coding	Pathogenic
10	43123710	AG	A	G43123715A	RET	NM_020975.6(RET):c.2846del:p.Gly949fs	coding	Pathogenic
10	43123732	A	AT	C43123735T	RET	NM_020975.6(RET):c.2865dup:p.Pro956fs	coding	Pathogenic
10	43126677	CT	C	T43126678C	RET	NM_020975.6(RET):c.3143del:p.Leu1048fs	coding	Pathogenic
10	47348767	AC	A	C47348772G	RBP3	NM_002900.3(RBP3):c.288del:p.Glu97fs	coding	Pathogenic
10	49456848	CAAT	C	A49456849G	ERCC6	NM_000124.4(ERCC6):c.*1964_*1966del	noncoding	Benign
10	49460427	AT	A	T49460429C	ERCC6	NM_000124.4(ERCC6):c.4007del:p.Asn1336fs	coding	Pathogenic
10	49461351	C	CT	C49461358T	ERCC6	NM_000124.4(ERCC6):c.3983dup:p.Ser1329fs	coding	Pathogenic
10	49461381	CCT	C	C49461382G	ERCC6	NM_000124.4(ERCC6):c.3952_3953del:p.Arg1318fs	coding	Pathogenic/Likely_pathogenic
10	49470352	T	TTAAGGTGGACCTTAAGCAGCCAGCCC	T49470354A	ERCC6	NM_000124.4(ERCC6):c.3607_3608insGGGCTGGCTGCTTAAGGTCCACCTTA:p.Lys1203fs	coding	Pathogenic/Likely_pathogenic
10	49470423	AT	A	T49470424A	ERCC6	NM_000124.4(ERCC6):c.3536del:p.Tyr1179fs	coding	Pathogenic/Likely_pathogenic
10	49470547	G	GT	G49470552T	ERCC6	NM_000124.4(ERCC6):c.3412dup:p.Thr1138fs	coding	Pathogenic/Likely_pathogenic
10	49470729	TC	T	C49470731T	ERCC6	NM_000124.4(ERCC6):c.3230del:p.Gly1077fs	coding	Pathogenic
10	49470852	TAGATGGCATTTGG	T	A49470853G	ERCC6	NM_000124.4(ERCC6):c.3095_3107del:p.Pro1032fs	coding	Pathogenic
10	49471091	CTA	C	A49471093T	ERCC6	NM_000124.4(ERCC6):c.2952_2953del:p.Asn984fs	coding	Pathogenic
10	49471091	CTATT	C	A49471093G	ERCC6	NM_000124.4(ERCC6):c.2950_2953del:p.Asn984fs	coding	Pathogenic
10	49472477	CAG	C	G49472489C	ERCC6	NM_000124.4(ERCC6):c.2830-19CT[5]	noncoding	Benign
10	49473520	G	GTGGTACCATCCATCTT	G49473537T	ERCC6	NM_000124.4(ERCC6):c.2650_2665dup:p.Thr889fs	coding	Pathogenic
10	49482759	C	CG	T49482761G	ERCC6	NM_000124.4(ERCC6):c.2096dup:p.Leu700fs	coding	Pathogenic/Likely_pathogenic
10	49482856	GT	G	T49482857G	ERCC6	NM_000124.4(ERCC6):c.1999del:p.Thr667fs	coding	Pathogenic
10	49483468	A	ATG	A49483473T	ERCC6	NM_000124.4(ERCC6):c.1866_1867CA[3]:p.Ser624fs	coding	Pathogenic
10	49483487	A	AC	A49483489C	ERCC6	NM_000124.4(ERCC6):c.1850dup:p.Cys617fs	coding	Pathogenic
10	49505891	GC	G	C49505892T	ERCC6	NM_000124.4(ERCC6):c.1518del:p.Lys506fs	coding	Pathogenic/Likely_pathogenic
10	49524149	G	GA	G49524155A	ERCC6	NM_000124.4(ERCC6):c.1280dup:p.Ser429fs	coding	Pathogenic
10	49524395	T	TA	T49524396A	ERCC6	NM_000124.4(ERCC6):c.1034_1035insT:p.Lys345fs	coding	Pathogenic
10	49524425	GA	G	A49524426G	ERCC6	NM_000124.4(ERCC6):c.1004del:p.Leu335fs	coding	Pathogenic
10	49524457	C	CT	G49524464T	ERCC6	NM_000124.4(ERCC6):c.972dup:p.Glu325fs	coding	Pathogenic
10	49524579	T	TA	C49524580A	ERCC6	NM_000124.4(ERCC6):c.850_851insT:p.Glu284fs	coding	Pathogenic
10	49530715	AT	A	T49530716C	ERCC6	NM_000124.4(ERCC6):c.543+4del	noncoding	Pathogenic
10	49530768	TCTGCTGG	T	C49530769T	ERCC6	NM_000124.4(ERCC6):c.488_494del:p.Thr163fs	coding	Pathogenic
10	49532914	ACAGTCTTGCT	A	A49532916C	ERCC6	NM_000124.4(ERCC6):c.41_50del:p.Glu14fs	coding	Pathogenic
10	49532915	CAGTCTTGCTCCTG	C	C49532919T	ERCC6	NM_000124.4(ERCC6):c.37_49del:p.Gln13fs	coding	Pathogenic
10	49619813	TC	AG	T49619813A	CHAT	NM_020549.4(CHAT):c.476_477delinsAG:p.Phe159Ter	coding	Pathogenic
10	49619858	G	GCC	T49619861C	CHAT	NM_020549.5(CHAT):c.522_523dup:p.Leu175fs	coding	Pathogenic
10	49620583	AG	A	G49620584C	CHAT	NM_020549.4(CHAT):c.669del:p.Gln223fs	coding	Pathogenic
10	52161978	T	TCCTTTGG	A52161983T	PRKG1	NM_006258.4(PRKG1):c.1076+19_1076+20insTGGCCTT	noncoding	Benign
10	53807071	A	AGTT	A53807076T	PCDH15	NM_001142771.2(PCDH15):c.4554_4556dup:p.Thr1519dup	coding	Benign
10	53809211	CT	GG	C53809211G	PCDH15	NM_001142771.2(PCDH15):c.4497+1344_4497+1345delinsCC	coding	Benign
10	53822122	CGTT	C	T53822127A	PCDH15	NM_033056.4(PCDH15):c.5598_5600AAC[1]:p.Thr1869del	coding	Benign
10	53822423	GGAGGAGCAA	G	A53822432G	PCDH15	NM_033056.4(PCDH15):c.5294_5302del:p.Leu1765_Pro1767del	coding	Benign/Likely_benign
10	53823036	T	TCAGAGACTTACTCTTGGCTTGTATTTTGGGTGAAAATGGGTCTACA	A53823083C	PCDH15	NM_033056.4(PCDH15):c.4644_4689dup:p.Arg1564delinsCysArgProIlePheThrGlnAsnThrSerGlnGluTer	coding	Pathogenic
10	53823117	A	ATACTT	G53823123T	PCDH15	NM_033056.4(PCDH15):c.4604_4608dup:p.Ser1537fs	coding	Pathogenic
10	53823174	C	CAGAT	A53823182T	PCDH15	NM_033056.4(PCDH15):c.4548_4551dup:p.Asp1518delinsIleTer	coding	Pathogenic
10	53823256	A	AATAGTATT	G53823265A	PCDH15	NM_033056.4(PCDH15):c.4462_4469dup:p.Glu1491fs	coding	Pathogenic/Likely_pathogenic
10	53823356	A	AGACTT	A53823364C	PCDH15	NM_033056.4(PCDH15):c.4368-3_4369dup	coding	Pathogenic
10	53823367	A	AAAAG	G53823374A	PCDH15	NM_033056.3(PCDH15):c.4368-13_4368-10dup	noncoding	Benign
10	53827437	A	AGGCGGC	G53827455C	PCDH15	NM_033056.4(PCDH15):c.4308_4310GCC[7]:p.Pro1442_Pro1443dup	coding	Benign/Likely_benign
10	53840339	C	CT	G53840340T	PCDH15	NM_033056.4(PCDH15):c.3963_3964insA:p.Asp1322fs	coding	Pathogenic
10	53840356	TG	T	G53840361T	PCDH15	NM_033056.4(PCDH15):c.3946del:p.Gln1316fs	coding	Pathogenic
10	53857188	CTA	C	A53857190C	PCDH15	NM_033056.4(PCDH15):c.3791_3792del:p.Ile1264fs	coding	Pathogenic
10	53866870	GA	G	A53866879G	PCDH15	NM_033056.4(PCDH15):c.3502-14del	noncoding	Benign
10	53866870	G	GA	G53866880A	PCDH15	NM_033056.4(PCDH15):c.3502-22dup	noncoding	Benign
10	53903268	A	AT	C53903271T	PCDH15	NM_033056.4(PCDH15):c.3475dup:p.Met1159fs	coding	Pathogenic
10	53903302	A	AT	C53903309T	PCDH15	NM_033056.4(PCDH15):c.3441dup:p.Phe1148fs	coding	Pathogenic/Likely_pathogenic
10	53959806	C	CATCACAGG	C53959815A	PCDH15	NM_033056.4(PCDH15):c.3040_3047dup:p.Met1016delinsIleLeuTer	coding	Pathogenic
10	53962084	G	GT	A53962086T	PCDH15	NM_033056.4(PCDH15):c.2869-193dup	noncoding	Benign
10	54020296	CAT	C	T54020298A	PCDH15	NM_033056.4(PCDH15):c.2645_2646del:p.Asp881_Tyr882insTer	coding	Pathogenic
10	54020370	CT	C	T54020372C	PCDH15	NM_033056.4(PCDH15):c.2572del:p.Ser858fs	coding	Pathogenic
10	54022998	A	AT	G54023000T	PCDH15	NM_033056.4(PCDH15):c.2419dup:p.Ile807fs	coding	Pathogenic/Likely_pathogenic
10	54066821	GGATCAAAC	G	G54066822A	PCDH15	NM_033056.4(PCDH15):c.2148_2155del:p.Phe717fs	coding	Pathogenic
10	54132840	TAC	T	A54132861C	PCDH15	NM_033056.4(PCDH15):c.1917+13GT[10]	noncoding	Benign
10	54132840	T	TAC	C54132863A	PCDH15	NM_033056.3(PCDH15):c.1917+33_1917+34dup	noncoding	Benign
10	54153147	G	GT	A54153149T	PCDH15	NM_033056.4(PCDH15):c.1736dup:p.Tyr579Ter	coding	Pathogenic
10	54153164	TCATTTCCACCC	T	A54153166T	PCDH15	NM_033056.4(PCDH15):c.1709_1719del:p.Gly570fs	coding	Pathogenic
10	54153256	TC	T	C54153260A	PCDH15	NM_033056.4(PCDH15):c.1627del:p.Glu543fs	coding	Pathogenic/Likely_pathogenic
10	54183422	CTTATA	C	A54183427G	PCDH15	NM_033056.4(PCDH15):c.1590+17_1590+21del	noncoding	Benign
10	54183558	T	TG	C54183561G	PCDH15	NM_033056.4(PCDH15):c.1475dup:p.Val493fs	coding	Pathogenic
10	54185223	CTGAGGTGT	C	T54185224A	PCDH15	NM_033056.4(PCDH15):c.1343_1350del:p.Tyr448fs	coding	Pathogenic
10	54185273	G	GA	T54185282A	PCDH15	NM_033056.4(PCDH15):c.1306-13dup	noncoding	Benign
10	54213945	CA	C	A54213948T	PCDH15	NM_033056.4(PCDH15):c.1088del:p.Leu363fs	coding	Pathogenic
10	54317429	TTTGGGCACGGTCCTG	T	G54317432A	PCDH15	NM_033056.4(PCDH15):c.706-3_717del	coding	Pathogenic
10	54369199	T	TC	A54369201C	PCDH15	NM_033056.4(PCDH15):c.394dup:p.Glu132fs	coding	Pathogenic
10	54369227	TG	T	G54369228T	PCDH15	NM_033056.4(PCDH15):c.366del:p.Asn122fs	coding	Pathogenic
10	54541672	A	AG	T54541673G	PCDH15	NM_033056.4(PCDH15):c.92-13796_92-13795insC	noncoding	Benign
10	54664246	TA	T	A54664250C	PCDH15	NM_033056.4(PCDH15):c.16del:p.Tyr6fs	coding	Pathogenic/Likely_pathogenic
10	60069847	AG	A	G60069849T	ANK3	NM_020987.5(ANK3):c.11033del:p.Pro3678fs	coding	Pathogenic
10	60069885	TG	T	G60069887T	ANK3	NM_020987.5(ANK3):c.10995del:p.Thr3666fs	coding	Pathogenic
10	60080600	GTCTA	G	A60080604G	ANK3	NM_020987.5(ANK3):c.4365_4368del:p.Arg1456fs	coding	Pathogenic
10	60166584	CA	C	A60166587T	ANK3	NM_020987.5(ANK3):c.2614+6del	noncoding	Benign/Likely_benign
10	60196628	G	GAAA	C60196641A	ANK3	NM_020987.5(ANK3):c.1690-15_1690-13dup	noncoding	Benign
10	60196628	G	GAA	C60196641A	ANK3	NM_020987.5(ANK3):c.1690-15_1690-14dup	noncoding	Benign/Likely_benign
10	60196628	G	GA	C60196641A	ANK3	NM_020987.5(ANK3):c.1690-15dup	noncoding	Benign
10	63208190	ACTAAAC	A	A63208193T	JMJD1C	NM_032776.3(JMJD1C):c.3473_3478del:p.Gly1158_Leu1159del	coding	Benign
10	63208461	CATCCATATCTTGTTTGATGATATGGCTTTTAGGACTGGAAG	C	C63208464G	JMJD1C	NM_032776.3(JMJD1C):c.3167_3207del:p.Ser1056fs	coding	Pathogenic
10	63209240	T	TAACAA	A63209258C	JMJD1C	NM_032776.3(JMJD1C):c.2695-20TTGTT[4]	noncoding	Benign
10	63214835	TTCA	T	C63214837G	JMJD1C	NM_032776.3(JMJD1C):c.1329_1331del:p.His443_Glu444delinsGln	coding	Benign
10	63215068	GTCTTTTCATATTTAGTT	G	A63215078C	JMJD1C	NM_032776.3(JMJD1C):c.1082_1098del:p.Lys361fs	coding	Pathogenic
10	63264772	G	GA	T63264783A	JMJD1C	NM_032776.3(JMJD1C):c.334-18dup	noncoding	Benign
10	63380324	AG	A	G63380326C	JMJD1C	NM_032776.3(JMJD1C):c.326del:p.Pro109fs	coding	Pathogenic
10	63465484	GA	CG	G63465484C	JMJD1C	NM_032776.3(JMJD1C):c.168+10_168+11delinsCG	coding	Benign
10	65966713	CCAA	C	C65966717G	CTNNA3	NM_013266.4(CTNNA3):c.2293_2295TTG[1]:p.Leu766del	coding	Pathogenic
10	66379296	CA	AT	C66379296A	CTNNA3	NM_013266.4(CTNNA3):c.1587_1588delinsAT:p.Asp529_Ala530delinsGluSer	coding	Benign
10	67823385	TG	T	G67823386T	DNAJC12	NM_021800.3(DNAJC12):c.85del:p.Gln29fs	coding	Pathogenic
10	67837952	TCC	T	C67837954A	DNAJC12	NM_021800.3(DNAJC12):c.58_59del:p.Gly20fs	coding	Pathogenic
10	67932788	TG	T	G67932789A	HERC4	NM_015601.4(HERC4):c.2655-9del	noncoding	Benign
10	68174093	TA	T	A68174095C	MYPN	NM_032578.4(MYPN):c.2003del:p.Asn668fs	coding	Pathogenic
10	68195500	CA	C	A68195501G	MYPN	NM_032578.3(MYPN):c.3127del:p.Ser1043fs	coding	Pathogenic
10	68199588	GC	G	C68199589T	MYPN	NM_032578.3(MYPN):c.3493+14del	noncoding	Benign
10	68199588	GCTGGGA	G	T68199590C	MYPN	NM_032578.3(MYPN):c.3493+15_3493+20delTGGGAC	noncoding	Benign
10	68231624	CG	C	G68231629T	ATOH7	NM_145178.4(ATOH7):c.53del:p.Pro18fs	coding	Pathogenic
10	68416702	AG	A	G68416704A	DNA2	NM_001080449.3(DNA2):c.3114+6del	noncoding	Pathogenic
10	68422211	AT	A	T68422222A	DNA2	NM_001080449.3(DNA2):c.2697+13del	noncoding	Benign
10	68445088	GA	G	A68445096G	DNA2	NM_001080449.3(DNA2):c.1058-6del	noncoding	Benign
10	68446276	TA	T	A68446286C	DNA2	NM_001080449.3(DNA2):c.1057+19del	noncoding	Benign
10	68449825	ATCGCTTGAACCCGAGAG	A	T68449826G	DNA2	NM_001080449.3(DNA2):c.939+186_939+202del	noncoding	Benign
10	68450250	GA	G	A68450262G	DNA2	NM_001080449.3(DNA2):c.720-4del	noncoding	Benign
10	68450250	G	GAAAA	G68450263A	DNA2	NM_001080449.3(DNA2):c.720-15_720-12dup	noncoding	Benign
10	68450250	G	GA	G68450263A	DNA2	NM_001080449.3(DNA2):c.720-15dup	noncoding	Benign
10	68471789	ACAGCTCCGCCGG	A	G68471800T	DNA2	NM_001080449.3(DNA2):c.64_74+1del	noncoding	Benign
10	69005123	AAG	A	A69005124G	KIFBP	NM_015634.4(KIFBP):c.605_606del:p.Arg202fs	coding	Pathogenic
10	69295692	AT	A	T69295703A	HK1	NM_033500.2(HK1):c.-67+23del	noncoding	Benign
10	69888302	AG	A	G69888305T	COL13A1	NM_001130103.1(COL13A1):c.523-1delG	noncoding	Pathogenic
10	69894687	CA	C	A69894692G	COL13A1	NM_001130103.2(COL13A1):c.621del:p.Gly208fs	coding	Pathogenic
10	69922767	AG	A	G69922770C	COL13A1	NM_001130103.2(COL13A1):c.1173del:p.Leu392fs	coding	Pathogenic
10	69930059	C	CA	G69930061A	COL13A1	NM_001368882.1(COL13A1):c.1503dup:p.Gly502fs	coding	Pathogenic
10	70435730	GC	G	C70435733A	NODAL	NM_018055.5(NODAL):c.446del:p.Gly149fs	coding	Pathogenic
10	70598629	CAG	C	A70598630G	PRF1	NM_001083116.3(PRF1):c.1090_1091del:p.Leu364fs	coding	Pathogenic
10	70598865	GCTT	G	T70598877C	PRF1	NM_001083116.3(PRF1):c.844AAG[3]:p.Lys285del	coding	Pathogenic
10	70600695	CG	C	G70600698C	PRF1	NM_001083116.3(PRF1):c.207del:p.Asp70fs	coding	Pathogenic
10	70600852	CA	C	A70600853G	PRF1	NM_001083116.3(PRF1):c.50del:p.Leu17fs	coding	Pathogenic
10	70816859	T	TA	G70816861A	SGPL1	NM_003901.4(SGPL1):c.7dup:p.Ser3fs	coding	Pathogenic
10	70871857	AC	A	C70871861T	SGPL1	NM_003901.4(SGPL1):c.934del:p.Leu312fs	coding	Pathogenic
10	70877258	GTCT	G	C70877263G	SGPL1	NM_003901.4(SGPL1):c.1632_1634CTT[1]:p.Phe545del	coding	Pathogenic
10	70883992	GT	G	T70883995A	PCBD1	NM_000281.4(PCBD1):c.272del:p.Asn91fs	coding	Pathogenic
10	71296712	GATATTCCAGCTGCATACCACTCTGGCAGAGGTGAGGGAAGTCGGGGCCAC	G	T71296727C	UNC5B	NM_170744.5(UNC5B):c.2475_2490+34del	coding	Benign
10	71322871	GC	G	C71322876T	SLC29A3	NM_018344.6(SLC29A3):c.122del:p.Pro41fs	coding	Pathogenic
10	71322994	CA	C	A71322997C	SLC29A3	NM_018344.6(SLC29A3):c.243del:p.Lys81fs	coding	Pathogenic
10	71344214	CTT	C	T71344216G	SLC29A3	NM_018344.6(SLC29A3):c.308_309del:p.Tyr102_Phe103insTer	coding	Pathogenic
10	71362119	CT	C	T71362120A	SLC29A3	NM_018344.6(SLC29A3):c.940del:p.Tyr314fs	coding	Pathogenic
10	71362220	TC	T	C71362225T	SLC29A3	NM_018344.6(SLC29A3):c.1045del:p.Leu349fs	coding	Pathogenic
10	71397276	CCGAGG	C	A71397289C	CDH23	NM_022124.6(CDH23):c.-45_-41AGGCG[2]	noncoding	Benign/Likely_benign
10	71439875	TG	T	G71439877T	CDH23	NM_022124.6(CDH23):c.46del:p.Val16fs	coding	Pathogenic
10	71510124	AC	A	C71510129T	CDH23	NM_022124.6(CDH23):c.193del:p.Leu65fs	coding	Pathogenic
10	71566873	C	CA	C71566875A	CDH23	NM_022124.6(CDH23):c.562dup:p.Thr188fs	coding	Pathogenic
10	71615579	AC	A	C71615584T	CDH23	NM_022124.6(CDH23):c.913del:p.Leu305fs	coding	Pathogenic
10	71617344	AG	A	G71617346T	CDH23	NM_022124.6(CDH23):c.1087del:p.Val363fs	coding	Pathogenic/Likely_pathogenic
10	71646547	TCAGC	T	G71646554C	CDH23	NM_022124.6(CDH23):c.1382_1385GCCA[1]:p.Gln462fs	coding	Pathogenic
10	71646592	T	TG	A71646597G	CDH23	NM_022124.6(CDH23):c.1428dup:p.Thr477fs	coding	Pathogenic
10	71682502	TGAC	ATCCAT	T71682502A	CDH23	NM_022124.6(CDH23):c.1916_1919delinsATCCAT:p.Leu639fs	coding	Pathogenic
10	71682529	A	AC	T71682536C	CDH23	NM_022124.6(CDH23):c.1949dup:p.Leu651fs	coding	Pathogenic
10	71687670	CT	C	T71687672C	CDH23	NM_022124.6(CDH23):c.2012del:p.Phe671fs	coding	Pathogenic
10	71690539	TACTCC	T	A71690540T	CDH23	NM_022124.6(CDH23):c.2132_2136del:p.Tyr711fs	coding	Pathogenic
10	71694220	CG	C	G71694225T	CDH23	NM_022124.6(CDH23):c.2255del:p.Gly752fs	coding	Pathogenic
10	71695455	CCA	C	A71695457G	CDH23	NM_022124.6(CDH23):c.2329_2330del:p.Thr777fs	coding	Pathogenic
10	71702621	AC	A	C71702625A	CDH23	NM_022124.6(CDH23):c.2664del:p.Thr889fs	coding	Pathogenic
10	71702625	C	CACCT	T71702630A	CDH23	NM_022124.6(CDH23):c.2665_2668dup:p.Phe890fs	coding	Pathogenic
10	71705014	TG	T	G71705016T	CDH23	NM_022124.6(CDH23):c.2839del:p.Val947fs	coding	Pathogenic
10	71705097	AC	A	C71705099A	CDH23	NM_022124.6(CDH23):c.2922del:p.Lys975fs	coding	Pathogenic
10	71724102	C	CA	T71724104A	CDH23	NM_022124.6(CDH23):c.3428dup:p.His1143fs	coding	Pathogenic
10	71732108	CATG	C	T71732113A	CDH23	NM_022124.6(CDH23):c.3839_3841TGA[1]:p.Met1281del	coding	Pathogenic
10	71732385	TG	T	G71732390C	CDH23	NM_022124.6(CDH23):c.4104+15del	coding	Pathogenic
10	71739680	GC	A	G71739680A	CDH23	NM_022124.6(CDH23):c.4396_4397delinsA:p.Ala1466fs	coding	Pathogenic
10	71741831	CGCCACACG	C	A71741835T	CDH23	NM_022124.6(CDH23):c.4759_4766del:p.Thr1587fs	coding	Pathogenic
10	71779269	G	GC	T71779271C	CDH23	NM_022124.6(CDH23):c.5191dup:p.Leu1731fs	coding	Pathogenic
10	71785097	CACGGTA	C	A71785098G	CDH23	NM_022124.6(CDH23):c.5710_5712+3del	coding	Pathogenic
10	71793212	A	AT	G71793214T	CDH23	NM_022124.6(CDH23):c.6285dup:p.Glu2096Ter	coding	Pathogenic
10	71793271	CG	C	G71793272C	CDH23	NM_022124.6(CDH23):c.6344del:p.Arg2115fs	coding	Pathogenic
10	71793272	GC	G	C71793273T	CDH23	NM_022124.6(CDH23):c.6345del:p.Phe2116fs	coding	Pathogenic
10	71793319	AC	A	C71793321A	CDH23	NM_022124.6(CDH23):c.6393del:p.Ile2132fs	coding	Pathogenic
10	71793327	CAGAG	C	A71793330G	CDH23	NM_022124.6(CDH23):c.6400_6401AG[1]:p.Glu2135fs	coding	Pathogenic
10	71793373	CG	C	G71793377C	CDH23	NM_022124.6(CDH23):c.6449del:p.Gly2150fs	coding	Pathogenic/Likely_pathogenic
10	71793593	GC	G	C71793595T	CDH23	NM_022124.6(CDH23):c.6667del:p.Leu2223fs	coding	Pathogenic
10	71793608	AG	A	G71793610A	CDH23	NM_022124.6(CDH23):c.6682del:p.Glu2228fs	coding	Pathogenic
10	71793623	CT	C	T71793624G	CDH23	NM_022124.6(CDH23):c.6696del:p.Ala2232_Val2233insTer	coding	Pathogenic
10	71798353	GC	G	C71798355A	CDH23	NM_022124.6(CDH23):c.6831del:p.Lys2278fs	coding	Pathogenic
10	71798489	AC	A	C71798492T	CDH23	NM_022124.6(CDH23):c.6968del:p.Pro2323fs	coding	Pathogenic
10	71798524	AC	A	C71798527T	CDH23	NM_022124.6(CDH23):c.7003del:p.Leu2335fs	coding	Pathogenic
10	71803393	C	CA	C71803396A	CDH23	NM_022124.6(CDH23):c.7847dup:p.Asn2616fs	coding	Pathogenic
10	71805829	G	GTACGAGT	G71805836T	CDH23	NM_022124.6(CDH23):c.7902_7903insTTACGAG:p.Val2635fs	coding	Pathogenic
10	71805850	C	CAAGGATG	G71805859A	CDH23	NM_022124.6(CDH23):c.7919_7925dup:p.Leu2644_Asn2645insTerGly	coding	Pathogenic
10	71805910	GGACTGGGA	G	A71805912T	CDH23	NM_022124.6(CDH23):c.7979_7986del:p.Asp2660fs	coding	Pathogenic
10	71806223	CG	TT	C71806223T	CDH23	NM_022124.6(CDH23):c.8120_8121delinsTT:p.Pro2707Leu	coding	Benign/Likely_benign
10	71807336	CG	C	G71807337T	CDH23	NM_022124.6(CDH23):c.8239del:p.Val2747fs	coding	Pathogenic
10	71807558	G	GCGAT	T71807559C	CDH23	NM_022124.6(CDH23):c.8351_8352insCGAT:p.Leu2785fs	coding	Pathogenic
10	71809866	C	CATGGCTGT	G71809868T	CDH23	NM_022124.6(CDH23):c.8770_8771insTGGCTGTA:p.Ser2924fs	coding	Pathogenic
10	71811364	CG	C	G71811366A	CDH23	NM_022124.6(CDH23):c.9129del:p.Asn3044fs	coding	Pathogenic
10	71811411	GC	G	C71811413G	CDH23	NM_022124.6(CDH23):c.9176del:p.Pro3059fs	coding	Pathogenic
10	71811716	C	CA	G71811719A	CDH23	NM_022124.6(CDH23):c.9284dup:p.Arg3096fs	coding	Pathogenic/Likely_pathogenic
10	71812780	CGT	C	T71812782A	CDH23	NM_022124.6(CDH23):c.9525_9526del:p.Glu3176fs	coding	Pathogenic
10	71812781	G	GT	G71812783T	CDH23	NM_022124.6(CDH23):c.9525dup:p.Glu3176Ter	coding	Pathogenic
10	71812882	CCAAT	C	T71812886G	CDH23	NM_022124.6(CDH23):c.9629_9632del:p.Ile3210fs	coding	Pathogenic
10	71819546	CA	C	A71819547G	PSAP	NM_002778.4(PSAP):c.1268del:p.Leu423fs	coding	Pathogenic
10	71821955	ATC	A	C71821959T	PSAP	NM_002778.4(PSAP):c.826_827GA[1]:p.Glu276fs	coding	Pathogenic
10	71824191	TG	T	G71824192T	PSAP	NM_002778.4(PSAP):c.777+1645del	noncoding	Benign
10	71831885	GACA	G	A71831888G	PSAP	NM_002778.4(PSAP):c.207_209del:p.Val70del	coding	Pathogenic
10	72007558	C	CG	C72007565G	CHST3	NM_004273.5(CHST3):c.533dup:p.Ala179fs	coding	Pathogenic/Likely_pathogenic
10	72008116	TG	T	G72008117C	CHST3	NM_004273.5(CHST3):c.1086del:p.Arg363fs	coding	Pathogenic
10	72008283	CAGA	C	G72008288C	CHST3	NM_004273.5(CHST3):c.1254_1256GAA[1]:p.Lys419del	coding	Pathogenic
10	72203485	T	TA	T72203487A	ASCC1	NM_001198800.3(ASCC1):c.251dup:p.Glu85fs	coding	Pathogenic
10	72210786	T	TC	A72210789C	ASCC1	NM_001198800.3(ASCC1):c.157dup:p.Glu53fs	coding	Pathogenic
10	72477489	C	CT	A72477491T	MICU1	NM_001195518.2(MICU1):c.653-234dup	noncoding	Benign
10	72508167	TTG	T	T72508170A	MICU1	NM_001195518.2(MICU1):c.636_637CA[1]:p.Thr213fs	coding	Pathogenic
10	72566753	GC	G	C72566755A	MICU1	NM_001195518.2(MICU1):c.40del:p.Ala14fs	coding	Pathogenic/Likely_pathogenic
10	73192628	AAG	A	A73192629T	FAM149B1	NM_173348.2(FAM149B1):c.356_357del:p.Lys119fs	coding	Pathogenic/Likely_pathogenic
10	73250990	AC	A	C73250992T	MRPS16	NM_016065.3(MRPS16):c.275delG:p.Gly92Valfs	coding	Pathogenic
10	73917408	TG	T	G73917409T	PLAU	NM_002658.5(PLAU):c.*844del	noncoding	Benign
10	74083041	A	AT	G74083043T	VCL	NM_003373.4(VCL):c.875-324dup	noncoding	Benign
10	74089865	T	TCA	T74089866C	VCL	NM_014000.2(VCL):c.1177-158_1177-157insCA	noncoding	Benign
10	74589262	CT	C	T74589274A	ADK	NM_006721.4(ADK):c.727-8del	noncoding	Benign
10	74843112	AG	A	G74843114C	KAT6B	NM_012330.4(KAT6B):c.257del:p.Gly86fs	coding	Pathogenic
10	74843135	AG	A	G74843139T	KAT6B	NM_012330.4(KAT6B):c.282del:p.Ser95fs	coding	Pathogenic
10	74843318	T	TG	C74843324G	KAT6B	NM_012330.4(KAT6B):c.466dup:p.Ala156fs	coding	Pathogenic
10	74960055	CTT	C	T74960056G	KAT6B	NM_012330.4(KAT6B):c.708_709del:p.Ala238fs	coding	Pathogenic
10	74985113	AACCTT	A	A74985114T	KAT6B	NM_012330.4(KAT6B):c.2408_2412del:p.Asn803fs	coding	Pathogenic
10	75021279	GA	G	A75021282G	KAT6B	NM_012330.4(KAT6B):c.3018del:p.Glu1007fs	coding	Pathogenic
10	75021899	CAA	C	A75021900G	KAT6B	NM_012330.4(KAT6B):c.3041_3042del:p.Gln1014fs	coding	Pathogenic
10	75022073	GA	G	A75022075G	KAT6B	NM_012330.4(KAT6B):c.3216del:p.Glu1073fs	coding	Pathogenic
10	75022093	GGAGGAGGAAGAA	G	G75022111A	KAT6B	NM_012330.4(KAT6B):c.3240_3251GGAAGAAGAGGA[1]:p.Glu1086_Glu1089del	coding	Benign
10	75022110	AG	A	G75022112A	KAT6B	NM_012330.4(KAT6B):c.3253del:p.Glu1085fs	coding	Pathogenic
10	75022121	G	GA	G75022124A	KAT6B	NM_012330.4(KAT6B):c.3264dup:p.Glu1089fs	coding	Pathogenic
10	75022147	GGAA	G	G75022169A	KAT6B	NM_012330.4(KAT6B):c.3289_3291GAA[7]:p.Glu1104del	coding	Benign/Likely_benign
10	75022147	G	GGAA	A75022172G	KAT6B	NM_012330.4(KAT6B):c.3289_3291GAA[9]:p.Glu1104dup	coding	Benign/Likely_benign
10	75024982	AG	A	G75024986T	KAT6B	NM_012330.4(KAT6B):c.3401del:p.Gly1134fs	coding	Pathogenic
10	75025061	C	CCTTT	G75025066C	KAT6B	NM_012330.4(KAT6B):c.3477_3480dup:p.Asp1161delinsLeuTer	coding	Pathogenic
10	75025079	AAG	A	A75025084G	KAT6B	NM_012330.4(KAT6B):c.3495_3496AG[2]:p.Arg1167fs	coding	Pathogenic
10	75025165	CA	C	A75025166G	KAT6B	NM_012330.4(KAT6B):c.3581del:p.Gln1194fs	coding	Pathogenic
10	75025187	GACAA	G	A75025191G	KAT6B	NM_012330.4(KAT6B):c.3606_3609del:p.Thr1203fs	coding	Pathogenic
10	75028503	GATTCAAGTAACTTGAA	G	T75028505G	KAT6B	NM_012330.3(KAT6B):c.3681_3696del16:p.Asp1227Glufs	coding	Pathogenic
10	75028588	GTCTA	G	T75028593A	KAT6B	NM_012330.4(KAT6B):c.3765_3768TCTA[1]:p.Lys1258fs	coding	Pathogenic
10	75028610	CAA	C	A75028612G	KAT6B	NM_012330.4(KAT6B):c.3788_3789del:p.Lys1263fs	coding	Pathogenic
10	75028673	TGACGAGCA	T	A75028675G	KAT6B	NM_012330.4(KAT6B):c.3851_3858del:p.Asp1284fs	coding	Pathogenic
10	75028901	GGAAGAGGAA	G	A75028921G	KAT6B	NM_012330.4(KAT6B):c.4079_4087AAGAGGAAG[2]:p.Glu1366_Glu1368del	coding	Benign/Likely_benign
10	75028901	G	GGAAGAGGAA	G75028930A	KAT6B	NM_012330.4(KAT6B):c.4079_4087AAGAGGAAG[4]:p.Glu1366_Glu1368dup	coding	Benign/Likely_benign
10	75028924	A	AG	A75028927G	KAT6B	NM_012330.4(KAT6B):c.4102dup:p.Glu1368fs	coding	Pathogenic
10	75029026	ACT	A	C75029029G	KAT6B	NM_012330.4(KAT6B):c.4203_4204CT[1]:p.Ser1402fs	coding	Pathogenic
10	75029122	ACATGGA	TC	A75029122T	KAT6B	NM_012330.4(KAT6B):c.4298_4304delinsTC:p.His1433fs	coding	Pathogenic
10	75029184	GAAAACCAG	AAAAACCAAAA	G75029184A	KAT6B	NM_012330.4(KAT6B):c.4360_4368delinsAAAAACCAAAA:p.Glu1454fs	coding	Pathogenic
10	75029197	CT	C	T75029203A	KAT6B	NM_012330.4(KAT6B):c.4379del:p.Phe1459_Leu1460insTer	coding	Pathogenic
10	75029228	C	CT	C75029230T	KAT6B	NM_012330.4(KAT6B):c.4405dup:p.Ser1469fs	coding	Pathogenic
10	75029282	CAGTG	C	T75029285C	KAT6B	NM_012330.4(KAT6B):c.4461_4464del:p.Glu1488fs	coding	Pathogenic
10	75029361	C	CA	G75029363A	KAT6B	NM_012330.4(KAT6B):c.4538dup:p.Lys1514fs	coding	Pathogenic
10	75029405	CA	C	A75029408G	KAT6B	NM_012330.4(KAT6B):c.4584del:p.Glu1529fs	coding	Pathogenic
10	75029424	AC	A	C75029426A	KAT6B	NM_012330.4(KAT6B):c.4602del:p.Met1535fs	coding	Pathogenic
10	75029548	A	ACACC	G75029554A	KAT6B	NM_012330.4(KAT6B):c.4726_4729dup:p.Arg1577fs	coding	Pathogenic
10	75029684	TG	T	G75029685C	KAT6B	NM_012330.4(KAT6B):c.4861del:p.Ala1621fs	coding	Pathogenic
10	75029723	AAGTGCCATCTC	A	A75029735T	KAT6B	NM_012330.4(KAT6B):c.4900_4910AGTGCCATCTC[1]:p.Val1638fs	coding	Pathogenic
10	75029888	TACTATGG	CACA	T75029888C	KAT6B	NM_012330.4(KAT6B):c.5064_5071delinsCACA:p.Met1690fs	coding	Pathogenic
10	75029988	A	AC	A75029992C	KAT6B	NM_012330.4(KAT6B):c.5167dup:p.Gln1723fs	coding	Pathogenic
10	75030015	A	AGCTGCAGCAT	A75030035T	KAT6B	NM_012330.4(KAT6B):c.5201_5210dup:p.Gln1737fs	coding	Pathogenic
10	75030192	G	GCCAA	A75030198C	KAT6B	NM_012330.4(KAT6B):c.5370_5373dup:p.Ile1792fs	coding	Pathogenic
10	75030325	AC	A	C75030326A	KAT6B	NM_012330.4(KAT6B):c.5502del:p.Pro1833_Tyr1834insTer	coding	Pathogenic
10	75030653	CTA	C	A75030655G	KAT6B	NM_012330.4(KAT6B):c.5831_5832del:p.Tyr1944fs	coding	Pathogenic
10	75031177	TA	T	A75031190G	KAT6B	NM_012330.4(KAT6B):c.*144del	noncoding	Benign
10	76036025	G	GC	G76036027C	LRMDA	NM_001305581.2(LRMDA):c.150dup:p.Ala51fs	coding	Pathogenic
10	76944888	AT	A	T76944890G	KCNMA1	NM_001161352.2(KCNMA1):c.2786del:p.Asn929fs	coding	Pathogenic
10	77012032	T	TA	T77012040A	KCNMA1	NM_001161352.2(KCNMA1):c.2026dup:p.Tyr676fs	coding	Pathogenic
10	77637505	A	AGAG	C77637529G	KCNMA1	NM_001161352.2(KCNMA1):c.117_119CTC[8]:p.Ser60dup	coding	Benign/Likely_benign
10	77637505	AGAG	A	G77637526C	KCNMA1	NM_001161352.2(KCNMA1):c.117_119CTC[6]:p.Ser60del	coding	Benign/Likely_benign
10	77830728	AGAG	A	A77830730C	DLG5	NM_004747.4(DLG5):c.1881+10_1881+12del	noncoding	Benign
10	77980219	GCA	G	A77980223T	POLR3A	NM_007055.4(POLR3A):c.3944_3945del:p.Val1315fs	coding	Pathogenic
10	77982170	G	GGGT	A77982171G	POLR3A	NM_007055.4(POLR3A):c.3742_3743insACC:p.Ser1248delinsTyrPro	coding	Pathogenic
10	77982663	TC	T	C77982665T	POLR3A	NM_007055.4(POLR3A):c.3583del:p.Asp1195fs	coding	Pathogenic
10	78009548	GCA	G	C78009551G	POLR3A	NM_007055.4(POLR3A):c.1896_1897del:p.Ala633fs	coding	Pathogenic
10	78009893	C	CT	A78009897T	POLR3A	NM_007055.4(POLR3A):c.1740dup:p.Val581fs	coding	Pathogenic
10	78024592	AT	A	T78024593G	POLR3A	NM_007055.4(POLR3A):c.601del:p.Ile201fs	coding	Pathogenic
10	78035352	AAC	TACGGATAG	A78035352T	RPS24	NM_001026.4(RPS24):c.4_6delinsTACGGATAG:p.Asn2delinsTyrGlyTer	coding	Pathogenic
10	78035360	CGT	C	G78035361A	RPS24	NM_001026.4(RPS24):c.13_14del:p.Val5fs	coding	Pathogenic
10	79296620	G	GC	A79296627C	ZMIZ1	NM_020338.4(ZMIZ1):c.1386dup:p.Thr463fs	coding	Pathogenic
10	79307487	G	GC	A79307495C	ZMIZ1	NM_020338.4(ZMIZ1):c.2758dup:p.Gln920fs	coding	Pathogenic
10	79312656	C	CA	C79312658A	ZMIZ1	NM_020338.4(ZMIZ1):c.3112dup:p.Thr1038fs	coding	Pathogenic
10	79938243	AAGTC	A	T79938246G	SFTPD	NM_003019.5(SFTPD):c.752-19_752-16del	noncoding	Benign
10	80272181	C	CCCAGCCTGAA	A80272187C	MAT1A	NM_000429.3(MAT1A):c.*1599_*1600insTTCAGGCTGG	noncoding	Benign
10	80272785	TG	T	G80272786C	MAT1A	NM_000429.3(MAT1A):c.*995del	noncoding	Benign
10	80280183	G	GCA	A80280184C	MAT1A	NM_000429.3(MAT1A):c.538_539insTG:p.Ser180fs	coding	Pathogenic
10	80289495	T	TTTCTTC	T80289516C	MAT1A	NM_000429.3(MAT1A):c.-90_-88GAA[8]	noncoding	Benign
10	84196543	G	GGA	C84196548G	CDHR1	NM_033100.4(CDHR1):c.193_194dup:p.Asp65fs	coding	Pathogenic
10	84196647	AG	A	G84196648A	CDHR1	NM_033100.4(CDHR1):c.295del:p.Glu99fs	coding	Pathogenic
10	84197824	TG	T	G84197826C	CDHR1	NM_033100.4(CDHR1):c.338del:p.Gly113fs	coding	Pathogenic
10	84200685	C	CA	G84200687A	CDHR1	NM_033100.4(CDHR1):c.524dup:p.Asn176fs	coding	Pathogenic
10	84201894	AC	A	C84201897A	CDHR1	NM_033100.4(CDHR1):c.616del:p.His206fs	coding	Pathogenic
10	84203120	TC	T	C84203122G	CDHR1	NM_033100.4(CDHR1):c.782del:p.Pro261fs	coding	Pathogenic
10	84211138	AG	A	G84211143C	CDHR1	NM_033100.4(CDHR1):c.1463del:p.Gly488fs	coding	Pathogenic
10	84212406	AG	A	G84212408T	CDHR1	NM_033100.4(CDHR1):c.1782+1del	coding	Pathogenic
10	84219122	CAACA	C	C84219125G	CDHR1	NM_001171971.3(CDHR1):c.2087_2090del:p.Thr696fs	coding	Pathogenic
10	84258712	A	AG	C84258714G	RGR	NM_001012720.2(RGR):c.*74dup	noncoding	Pathogenic
10	86665725	A	AT	C86665727T	OPN4	NM_033282.4(OPN4):c.1412dup:p.Ser473fs	coding	Benign
10	86691667	TC	T	C86691668T	LDB3	NM_007078.3(LDB3):c.690-228del	noncoding	Benign
10	86699239	TTCTC	T	C86699265G	LDB3	NM_007078.3(LDB3):c.896+6669TC[12]	noncoding	Benign/Likely_benign
10	86699239	T	TTC	G86699269C	LDB3	NM_007078.3(LDB3):c.896+6669TC[15]	noncoding	Benign
10	86699239	T	TTCTC	G86699269C	LDB3	NM_007078.3(LDB3):c.896+6669TC[16]	noncoding	Benign
10	86716377	CCCTACACCCCCTCCCCTGCCCCTGCCTACACCCCCTCCCCTGCCCCTG	C	C86716391A	LDB3	NM_007078.3(LDB3):c.1296_1343del:p.Ala434_Pro449del	coding	Benign
10	86726345	CT	C	T86726346A	LDB3	NM_007078.3(LDB3):c.2094+94del	noncoding	Benign
10	86756637	CGGCGGCCGCTGCAGAGATTGGAATCCGCCTGCCGGGCTTGGCGAAGGAGAAGGGAGGAGGCAGGAGCGAGGAGGGAGGAGGGCCAAGGGCGGGCAGGAAGGCTTAGGCTCGGCGCGTCCGTCCGCGCGCGGCGAAGATCGCACGGCCCGATCGAGGGGCGACCGGGTCGGGGCCGCTGCACGCCAAGGGCGAAGGCCGATTCGGGCCCCACTTCGCCCCGGCGGCTCGCCGCGCCCACCCGCTCCGCGCCGAGGGCTGGAGGATGCGTTCCCTGGGGTCCG	C	C86756640T	BMPR1A	NM_004329.2(BMPR1A):c.-547_-268+1del	noncoding	Pathogenic
10	86875647	AT	A	T86875648G	BMPR1A	NM_004329.2(BMPR1A):c.-152-219del	noncoding	Benign
10	86876059	ATTTG	A	T86876062C	BMPR1A	NM_004329.2(BMPR1A):c.44_47del:p.Leu15fs	coding	Pathogenic
10	86890104	C	CCCATGGCACTGGGAT	A86890105C	BMPR1A	NM_004329.2(BMPR1A):c.110_111insCCATGGCACTGGGAT:p.Asp38_Ser39insHisGlyThrGlyIle	coding	Pathogenic
10	86890125	CAG	C	G86890127A	BMPR1A	NM_004329.2(BMPR1A):c.133_134del:p.Glu45fs	coding	Pathogenic
10	86890143	TA	T	A86890144G	BMPR1A	NM_004329.3(BMPR1A):c.150del:p.Ala51fs	coding	Pathogenic
10	86890152	AG	A	G86890154A	BMPR1A	NM_004329.2(BMPR1A):c.160del:p.Asp54fs	coding	Pathogenic
10	86890164	CT	C	T86890170A	BMPR1A	NM_004329.2(BMPR1A):c.176del:p.Phe58_Leu59insTer	coding	Pathogenic
10	86890177	C	CTATT	G86890182T	BMPR1A	NM_004329.3(BMPR1A):c.184_187dup:p.Cys63fs	coding	Pathogenic
10	86890191	A	ACTGTC	A86890198T	BMPR1A	NM_004329.2(BMPR1A):c.199_203dup:p.Asp69fs	coding	Pathogenic
10	86890202	GATGCTATTAATAACAC	G	T86890207A	BMPR1A	NM_004329.2(BMPR1A):c.213_228del:p.Ala71_Ile72insTer	coding	Pathogenic
10	86890208	A	AT	A86890211T	BMPR1A	NM_004329.2(BMPR1A):c.216dup:p.Asn73Ter	coding	Pathogenic
10	86892138	AT	A	T86892140G	BMPR1A	NM_004329.3(BMPR1A):c.244del:p.Cys82fs	coding	Pathogenic
10	86892138	ATTGCT	A	T86892143C	BMPR1A	NM_004329.2(BMPR1A):c.247_251del:p.Phe83fs	coding	Pathogenic
10	86892168	AG	A	G86892171A	BMPR1A	NM_004329.2(BMPR1A):c.275del:p.Gly92fs	coding	Pathogenic
10	86892181	A	ATTAG	C86892186T	BMPR1A	NM_004329.2(BMPR1A):c.286_289dup:p.Ala97fs	coding	Pathogenic
10	86892220	TC	T	C86892221A	BMPR1A	NM_004329.2(BMPR1A):c.325del:p.Gln109fs	coding	Pathogenic
10	86899818	CG	C	G86899820A	BMPR1A	NM_004329.2(BMPR1A):c.360del:p.Thr121fs	coding	Pathogenic
10	86899821	ACAATAGAATGTTGTCGGAC	A	A86899826T	BMPR1A	NM_004329.2(BMPR1A):c.366_384del:p.Glu123fs	coding	Pathogenic
10	86899826	AG	A	G86899827A	BMPR1A	NM_004329.2(BMPR1A):c.367del:p.Glu123fs	coding	Pathogenic
10	86899827	GA	G	A86899829T	BMPR1A	NM_004329.2(BMPR1A):c.369del:p.Glu123fs	coding	Pathogenic
10	86899831	GT	G	T86899833G	BMPR1A	NM_004329.3(BMPR1A):c.373del:p.Cys125fs	coding	Pathogenic
10	86899863	C	CA	C86899866A	BMPR1A	NM_004329.2(BMPR1A):c.405dup:p.Pro136fs	coding	Pathogenic
10	86899874	GC	G	C86899879T	BMPR1A	NM_004329.2(BMPR1A):c.419del:p.Pro140fs	coding	Pathogenic
10	86899879	CT	C	T86899880G	BMPR1A	NM_004329.2(BMPR1A):c.420del:p.Val141fs	coding	Pathogenic
10	86900037	TGATGGCAGCATTCGATG	GA	T86900037G	BMPR1A	NM_004329.2(BMPR1A):c.441_458delinsGA:p.Phe147fs	coding	Pathogenic
10	86900075	TG	T	G86900077C	BMPR1A	NM_004329.2(BMPR1A):c.481del:p.Ala161fs	coding	Pathogenic
10	86912274	T	TA	C86912276A	BMPR1A	NM_004329.2(BMPR1A):c.566dup:p.Tyr189Ter	coding	Pathogenic
10	86912284	A	AT	G86912288T	BMPR1A	NM_004329.2(BMPR1A):c.578dup:p.Leu193fs	coding	Pathogenic
10	86912357	TG	T	G86912359T	BMPR1A	NM_004329.3(BMPR1A):c.650del:p.Gly217fs	coding	Pathogenic
10	86912381	AT	A	T86912383G	BMPR1A	NM_004329.2(BMPR1A):c.674del:p.Leu225fs	coding	Pathogenic
10	86917188	C	CG	A86917190G	BMPR1A	NM_004329.2(BMPR1A):c.731dup:p.Tyr245fs	coding	Pathogenic
10	86917224	GA	G	A86917229G	BMPR1A	NM_004329.2(BMPR1A):c.771del:p.Val258fs	coding	Pathogenic
10	86917280	AAC	A	C86917282G	BMPR1A	NM_004329.3(BMPR1A):c.824_825del:p.Thr275fs	coding	Pathogenic
10	86917282	CAG	C	G86917284A	BMPR1A	NM_004329.2(BMPR1A):c.826_827del:p.Glu276fs	coding	Pathogenic
10	86917303	T	TA	T86917306A	BMPR1A	NM_004329.2(BMPR1A):c.847dup:p.Met283fs	coding	Pathogenic
10	86917321	T	TA	C86917323A	BMPR1A	NM_004329.2(BMPR1A):c.864dup:p.Leu289fs	coding	Pathogenic
10	86919176	C	CA	T86919178A	BMPR1A	NM_004329.2(BMPR1A):c.874dup:p.Ile292fs	coding	Pathogenic
10	86919187	A	GTTCATAGCGG	A86919187G	BMPR1A	NM_004329.2(BMPR1A):c.884delinsGTTCATAGCGG:p.Asp295delinsGlySerTer	coding	Pathogenic
10	86919198	ACAGGTTCCTGGACTCAGCTCTATTTGATTACTGATTACCATGAAAATGGATCTCTCTATGACTTCCTGAAATGTGCTACACTGGACACCAGAGCCCTGCTTAAATTGGCTTATTCAGCTGCCTGTGGTCTGTG	A	A86919200C	BMPR1A	NM_004329.3(BMPR1A):c.897_1029del:p.Gly300fs	coding	Pathogenic
10	86919218	C	CTATT	G86919224A	BMPR1A	NM_004329.2(BMPR1A):c.917_920dup:p.Ile308fs	coding	Pathogenic
10	86919235	AC	A	C86919237A	BMPR1A	NM_004329.2(BMPR1A):c.934del:p.His312fs	coding	Pathogenic
10	86919248	ATCTC	A	C86919252A	BMPR1A	NM_004329.2(BMPR1A):c.947_948CT[1]:p.Leu317fs	coding	Pathogenic
10	86919256	A	AT	G86919258T	BMPR1A	NM_004329.3(BMPR1A):c.954dup:p.Asp319Ter	coding	Pathogenic
10	86919259	A	AC	T86919261C	BMPR1A	NM_004329.2(BMPR1A):c.957dup:p.Phe320fs	coding	Pathogenic
10	86919262	TC	T	C86919264T	BMPR1A	NM_004329.2(BMPR1A):c.961del:p.Phe320_Leu321insTer	coding	Pathogenic
10	86919290	AGCCCT	TGTA	A86919290T	BMPR1A	NM_004329.2(BMPR1A):c.987_992delinsTGTA:p.Arg329fs	coding	Pathogenic
10	86919360	C	CAA	G86919363A	BMPR1A	NM_004329.2(BMPR1A):c.1058_1059dup:p.Gly354fs	coding	Pathogenic
10	86919362	AG	A	G86919364A	BMPR1A	NM_004329.2(BMPR1A):c.1061del:p.Gly354fs	coding	Pathogenic
10	86919367	AG	A	G86919368C	BMPR1A	NM_004329.3(BMPR1A):c.1065del:p.Lys355fs	coding	Pathogenic
10	86919397	GC	G	C86919398A	BMPR1A	NM_004329.3(BMPR1A):c.1095del:p.Ser365fs	coding	Pathogenic
10	86919398	CA	C	A86919403C	BMPR1A	NM_004329.3(BMPR1A):c.1100del:p.Asn367fs	coding	Pathogenic
10	86919403	AC	A	C86919404A	BMPR1A	NM_004329.2(BMPR1A):c.1101del:p.Asn367fs	coding	Pathogenic
10	86919427	G	GTTGCTGCATTGCTGACCTGGGCC	T86919457C	BMPR1A	NM_004329.3(BMPR1A):c.1131_1153dup:p.Val385fs	coding	Pathogenic
10	86919454	CT	C	T86919455G	BMPR1A	NM_004329.3(BMPR1A):c.1152del:p.Val385fs	coding	Pathogenic
10	86921535	TG	T	G86921536A	BMPR1A	NM_004329.3(BMPR1A):c.1183del:p.Asp395fs	coding	Pathogenic
10	86921596	G	GAA	G86921600A	BMPR1A	NM_004329.2(BMPR1A):c.1245_1246dup:p.Ser416fs	coding	Pathogenic
10	86921618	TC	T	C86921620A	BMPR1A	NM_004329.3(BMPR1A):c.1267del:p.Gln423fs	coding	Pathogenic
10	86923146	C	CAAA	G86923147A	BMPR1A	NM_004329.2(BMPR1A):c.1343-230_1343-229insAAA	noncoding	Benign
10	87074533	CTA	C	A87074535G	GLUD1	NM_005271.5(GLUD1):c.646+16_646+17del	noncoding	Benign
10	87513115	T	TC	A87513122C	MINPP1	NM_004897.5(MINPP1):c.836-3dup	noncoding	Benign
10	87713265	T	TG	C87713267G	PAPSS2	NM_001015880.2(PAPSS2):c.337dup:p.Ala113fs	coding	Pathogenic
10	87713312	TAAAAA	T	A87713330G	PAPSS2	NM_001015880.2(PAPSS2):c.381+20_381+24del	noncoding	Benign
10	87713312	T	TAAAAAAAAAAAAAAAAAAAAA	G87713335A	PAPSS2	NM_001015880.2(PAPSS2):c.381+4_381+24dup	noncoding	Benign
10	87713312	T	TAAAA	G87713335A	PAPSS2	NM_001015880.2(PAPSS2):c.381+21_381+24dup	noncoding	Benign
10	87714137	G	GACGT	A87714143C	PAPSS2	NM_001015880.2(PAPSS2):c.477_480dup:p.Lys161fs	coding	Pathogenic
10	87714837	CAGGTAGTGGAACTTCTGCA	C	G87714840A	PAPSS2	NM_001015880.2(PAPSS2):c.616_634del:p.Val206fs	coding	Pathogenic
10	87715004	TA	T	A87715006T	PAPSS2	NM_001015880.2(PAPSS2):c.661del:p.Ile221fs	coding	Pathogenic
10	87715026	CTT	C	T87715028G	PAPSS2	NM_001015880.2(PAPSS2):c.683_684del:p.Phe228fs	coding	Pathogenic
10	87743454	TAG	T	A87743459G	PAPSS2	NM_001015880.2(PAPSS2):c.1305_1306AG[2]:p.Arg437fs	coding	Pathogenic
10	87754701	CAT	C	A87754702G	ATAD1	NM_032810.3(ATAD1):c.1070_1071del:p.His357fs	coding	Pathogenic
10	87862147	CCT	C	C87862148G	KLLN	NM_001126049.1(KLLN):c.339_340del:p.Ala115fs	coding	Benign
10	87863797	TGCGGCGGCGGCA	T	G87863807T	PTEN	NM_000314.7(PTEN):c.-662_-651del	noncoding	Benign
10	87864102	GC	G	C87864103T	PTEN	NM_000314.7(PTEN):c.-366del	coding	Benign
10	87864103	CT	C	T87864104G	PTEN	NC_000010.10:g.89623861delT	coding	Benign
10	87864484	CAA	C	A87864486G	PTEN	NM_001304718.2(PTEN):c.-689_-688del	coding	Pathogenic
10	87864484	C	CA	G87864488A	PTEN	NM_001304718.2(PTEN):c.-688dup	coding	Pathogenic
10	87864486	AAG	A	G87864490T	PTEN	NM_001304718.2(PTEN):c.-687_-686GA[1]	coding	Pathogenic
10	87864488	GAGATCGTTAGCAGAAAC	G	G87864490A	PTEN	NM_000314.7(PTEN):c.21_37del:p.Ile8fs	coding	Pathogenic
10	87864505	CAA	C	A87864508G	PTEN	NM_001304718.2(PTEN):c.-667_-666del	coding	Pathogenic
10	87864505	C	CA	G87864510A	PTEN	NM_001304718.2(PTEN):c.-666dup	coding	Pathogenic
10	87864509	AG	A	G87864511A	PTEN	NM_001304718.2(PTEN):c.-664del	coding	Pathogenic
10	87864510	G	GGA	T87864515G	PTEN	NM_001304718.2(PTEN):c.-664_-663GA[3]	coding	Pathogenic
10	87864512	A	AG	A87864514G	PTEN	NM_000314.7(PTEN):c.44dup:p.Tyr16fs	coding	Pathogenic
10	87864514	A	AT	A87864516T	PTEN	NM_001304718.2(PTEN):c.-660dup	coding	Pathogenic
10	87864515	T	TA	T87864517A	PTEN	NM_001304718.2(PTEN):c.-659dup	coding	Pathogenic
10	87864518	CAA	C	A87864519G	PTEN	NM_001304718.2(PTEN):c.-656_-655del	coding	Pathogenic
10	87864521	GA	G	A87864522G	PTEN	NM_001304718.2(PTEN):c.-653del	coding	Pathogenic
10	87864532	C	CG	A87864534G	PTEN	NM_000314.8(PTEN):c.64dup:p.Asp22fs	coding	Pathogenic
10	87864535	CT	C	T87864537A	PTEN	NM_001304718.2(PTEN):c.-638del	coding	Pathogenic
10	87864537	T	TA	G87864539A	PTEN	NM_000314.8(PTEN):c.69dup:p.Asp24fs	coding	Pathogenic
10	87864538	AG	A	G87864539A	PTEN	NM_001304718.2(PTEN):c.-636del	coding	Pathogenic
10	87864541	C	CT	G87864544T	PTEN	NM_001304718.2(PTEN):c.-632dup	coding	Pathogenic
10	87894025	A	ATC	A87894027C	PTEN	NM_000314.7(PTEN):c.81_82insCT:p.Ile28fs	coding	Pathogenic
10	87894029	TTATC	T	T87894030C	PTEN	NM_001304718.2(PTEN):c.-621_-618del	coding	Pathogenic
10	87894034	CA	C	A87894037C	PTEN	NM_001304718.2(PTEN):c.-614del	coding	Pathogenic
10	87894040	TTA	T	A87894042T	PTEN	NM_001304718.2(PTEN):c.-609_-608del	coding	Pathogenic
10	87894046	CT	C	T87894047A	PTEN	NM_000314.8(PTEN):c.102del:p.Met35fs	coding	Pathogenic
10	87894050	GG	AC	G87894050A	PTEN	NM_001304718.2(PTEN):c.-601_-600delinsAC	coding	Pathogenic
10	87894053	ATT	A	T87894055C	PTEN	NM_001304718.2(PTEN):c.-596_-595del	coding	Pathogenic
10	87894061	CA	C	A87894062G	PTEN	NM_001304718.2(PTEN):c.-589del	coding	Pathogenic
10	87894071	T	TG	A87894073G	PTEN	NM_001304718.2(PTEN):c.-579dup	coding	Pathogenic
10	87894074	A	AG	C87894077G	PTEN	NM_001304718.2(PTEN):c.-575dup	coding	Pathogenic
10	87894075	G	GGCGT	A87894080G	PTEN	NM_001304718.2(PTEN):c.-575_-572dup	coding	Pathogenic
10	87894076	G	GC	G87894078C	PTEN	NM_001304718.2(PTEN):c.-574dup	coding	Pathogenic
10	87894084	AG	A	G87894086A	PTEN	NM_001304718.2(PTEN):c.-565del	coding	Pathogenic
10	87894093	AT	A	T87894095G	PTEN	NM_000314.8(PTEN):c.150del:p.Ile50fs	coding	Pathogenic
10	87894100	A	ACT	T87894101C	PTEN	NM_000314.8(PTEN):c.155_156insCT:p.Val53fs	coding	Pathogenic
10	87894104	AGTAAG	A	G87894110A	PTEN	NM_000314.8(PTEN):c.164+1_164+5del	coding	Pathogenic
10	87925509	TAAGG	T	A87925510T	PTEN	NM_000314.7(PTEN):c.165-3_165del	noncoding	Pathogenic
10	87925514	TT	A	T87925514A	PTEN	NM_001304718.2(PTEN):c.-541-5532_-541-5531delinsA	coding	Pathogenic
10	87925523	TC	T	C87925524A	PTEN	NM_000314.8(PTEN):c.176del:p.Asp58_Ser59insTer	coding	Pathogenic
10	87925524	CA	C	A87925527G	PTEN	NM_001304718.2(PTEN):c.-541-5519del	coding	Pathogenic
10	87925527	AG	A	G87925528C	PTEN	NM_000314.8(PTEN):c.180del:p.Lys60fs	coding	Pathogenic
10	87925531	TA	T	A87925536C	PTEN	NM_001304718.2(PTEN):c.-541-5510del	coding	Pathogenic
10	87925541	TA	T	A87925542C	PTEN	NM_000314.8(PTEN):c.194del:p.Tyr65fs	coding	Pathogenic
10	87925542	AC	A	C87925543A	PTEN	NM_000314.8(PTEN):c.195del:p.His64_Tyr65insTer	coding	Pathogenic
10	87925546	GA	G	A87925547T	PTEN	NM_001304718.2(PTEN):c.-541-5499del	coding	Pathogenic
10	87925547	A	AT	A87925549T	PTEN	NM_001304718.2(PTEN):c.-541-5498dup	coding	Pathogenic
10	87925556	C	CT	G87925558T	PTEN	NM_000314.8(PTEN):c.209dup:p.Cys71Leufs	coding	Pathogenic
10	87925556	CTG	C	G87925558A	PTEN	NM_000314.8(PTEN):c.209+1_209+2del	coding	Pathogenic
10	87925557	TGTAA	T	A87925561T	PTEN	NM_000314.7(PTEN):c.209+4_209+7del	coding	Pathogenic
10	87930997	TCCTAA	T	C87930998G	PTEN	NM_000314.7(PTEN):c.210-48_210-44del	noncoding	Benign
10	87931033	ACTTTT	A	C87931039A	PTEN	NM_000314.8(PTEN):c.210-7_210-3del	noncoding	Benign
10	87931041	TTTAG	T	A87931044G	PTEN	NM_000314.8(PTEN):c.210-2_211del	noncoding	Pathogenic
10	87931052	T	TGAAA	C87931059A	PTEN	NM_001304718.2(PTEN):c.-532_-529dup	coding	Pathogenic
10	87931053	G	GAA	G87931057A	PTEN	NM_001304718.2(PTEN):c.-532_-531dup	coding	Pathogenic
10	87931059	CAT	C	A87931060T	PTEN	NM_000314.8(PTEN):c.224_225del:p.His75fs	coding	Pathogenic
10	87931063	A	AT	G87931065T	PTEN	NM_000314.8(PTEN):c.228dup:p.Asp77Ter	coding	Pathogenic
10	87931069	CCG	C	G87931071C	PTEN	NM_000314.8(PTEN):c.235_236del:p.Ala79fs	coding	Pathogenic
10	87931088	A	AG	T87931091G	PTEN	NM_000314.8(PTEN):c.253+1dup	coding	Pathogenic/Likely_pathogenic
10	87932974	G	GT	C87932984T	PTEN	NM_000314.7(PTEN):c.254-30dup	noncoding	Benign
10	87933018	CA	C	A87933020T	PTEN	NM_001304718.2(PTEN):c.-490del	coding	Pathogenic
10	87933019	AAT	A	A87933022C	PTEN	NM_000314.8(PTEN):c.263_264del:p.Tyr88fs	coding	Pathogenic
10	87933029	TG	T	G87933030A	PTEN	NM_001304718.2(PTEN):c.-480del	coding	Pathogenic
10	87933030	GA	TTT	G87933030T	PTEN	NM_001304718.2(PTEN):c.-480_-479delinsTTT	coding	Pathogenic
10	87933034	ACCATAACCCACCACAG	A	C87933036T	PTEN	NM_000314.7(PTEN):c.277_292del:p.Asp92_His93insTer	coding	Pathogenic
10	87933043	C	CAA	C87933045A	PTEN	NM_000314.7(PTEN):c.285_286insAA:p.Pro96fs	coding	Pathogenic
10	87933056	ACTTATCAAACC	A	A87933060T	PTEN	NM_000314.8(PTEN):c.301_311del:p.Ile101fs	coding	Pathogenic
10	87933059	T	TA	T87933061A	PTEN	NM_001304718.2(PTEN):c.-450dup	coding	Pathogenic
10	87933062	CA	C	A87933065C	PTEN	NM_001304718.2(PTEN):c.-445del	coding	Pathogenic
10	87933065	AC	A	C87933068T	PTEN	NM_001304718.2(PTEN):c.-442del	coding	Pathogenic/Likely_pathogenic
10	87933068	CT	C	T87933072G	PTEN	NM_000314.8(PTEN):c.313del:p.Cys105fs	coding	Pathogenic
10	87933071	T	TTG	A87933076T	PTEN	NM_001304718.2(PTEN):c.-438_-437TG[3]	coding	Pathogenic
10	87933073	G	GT	G87933075T	PTEN	NM_001304718.2(PTEN):c.-436dup	coding	Pathogenic
10	87933073	GT	G	T87933074G	PTEN	NM_001304718.2(PTEN):c.-436del	coding	Pathogenic
10	87933075	GA	G	A87933077G	PTEN	NM_001304718.2(PTEN):c.-433del	coding	Pathogenic
10	87933079	AT	A	T87933080C	PTEN	NM_001304718.2(PTEN):c.-430del	coding	Pathogenic
10	87933091	G	GT	G87933092T	PTEN	NM_000314.7(PTEN):c.332_333insT:p.Trp111fs	coding	Pathogenic
10	87933104	T	TGACAATCATGTTG	C87933118G	PTEN	NM_001304718.2(PTEN):c.-405_-393dup	coding	Pathogenic
10	87933105	GACAAT	G	A87933106C	PTEN	NM_001304718.2(PTEN):c.-404_-400del	coding	Pathogenic
10	87933106	ACAAT	A	A87933109T	PTEN	NM_001304718.2(PTEN):c.-401_-398del	coding	Pathogenic
10	87933110	TCA	T	C87933111T	PTEN	NM_001304718.2(PTEN):c.-399_-398del	coding	Pathogenic
10	87933116	T	TG	C87933118G	PTEN	NM_000314.8(PTEN):c.358dup:p.Ala120fs	coding	Pathogenic
10	87933117	G	GC	A87933119C	PTEN	NM_000314.8(PTEN):c.359dup:p.Ala121fs	coding	Pathogenic
10	87933128	CT	C	T87933129G	PTEN	NM_001304718.2(PTEN):c.-381del	coding	Pathogenic
10	87933134	AGC	A	G87933135T	PTEN	NM_001304718.2(PTEN):c.-375_-374del	coding	Pathogenic
10	87933137	TG	T	G87933139A	PTEN	NM_001304718.2(PTEN):c.-371del	coding	Pathogenic
10	87933142	AG	A	G87933145A	PTEN	NM_001304718.2(PTEN):c.-365del	coding	Pathogenic
10	87933145	GA	TT	G87933145T	PTEN	NM_001304718.2(PTEN):c.-365_-364delinsTT	coding	Pathogenic
10	87933147	CG	C	G87933148A	PTEN	NM_001304718.2(PTEN):c.-362del	coding	Pathogenic
10	87933150	A	AC	T87933152C	PTEN	NM_000314.8(PTEN):c.392dup:p.Gly132fs	coding	Pathogenic
10	87933150	A	ACT	G87933153C	PTEN	NM_001304718.2(PTEN):c.-359_-358dup	coding	Pathogenic
10	87933156	G	TA	G87933156T	PTEN	NM_000314.8(PTEN):c.397delinsTA:p.Val133fs	coding	Pathogenic
10	87933157	TAATGA	T	A87933158T	PTEN	NM_001304718.2(PTEN):c.-352_-348del	coding	Pathogenic
10	87933163	T	TA	T87933165A	PTEN	NM_001304718.2(PTEN):c.-346dup	coding	Pathogenic
10	87933172	AT	A	T87933175A	PTEN	NM_001304718.2(PTEN):c.-335del	coding	Pathogenic
10	87933178	T	TA	C87933180A	PTEN	NM_001304718.2(PTEN):c.-331dup	coding	Pathogenic
10	87933182	TC	T	C87933183G	PTEN	NM_000314.7(PTEN):c.424del:p.Arg142fs	coding	Pathogenic
10	87933188	CA	C	A87933191T	PTEN	NM_001304718.2(PTEN):c.-319del	coding	Pathogenic
10	87933191	AT	A	T87933196A	PTEN	NM_001304718.2(PTEN):c.-314del	coding	Pathogenic
10	87933204	CA	C	A87933206G	PTEN	NM_001304718.2(PTEN):c.-304del	coding	Pathogenic
10	87933216	GATTT	G	A87933217C	PTEN	NM_001304718.2(PTEN):c.-293_-290del	coding	Pathogenic
10	87933217	A	ATT	C87933221T	PTEN	NM_000314.7(PTEN):c.460_461dup:p.Tyr155fs	coding	Pathogenic
10	87933224	TG	T	G87933228A	PTEN	NM_001304718.2(PTEN):c.-282del	coding	Pathogenic
10	87933224	T	TG	A87933229G	PTEN	NM_000314.7(PTEN):c.469dup:p.Glu157fs	coding	Pathogenic
10	87933232	TAAGGA	CAAAGGC	T87933232C	PTEN	NM_000314.8(PTEN):c.473_478delinsCAAAGGC:p.Val158fs	coding	Pathogenic
10	87933243	GAC	G	C87933245A	PTEN	NM_001304718.2(PTEN):c.-265_-264del	coding	Pathogenic
10	87933244	ACA	CC	A87933244C	PTEN	NM_001304718.2(PTEN):c.-266_-264delinsCC	coding	Pathogenic
10	87933245	CAA	C	A87933249G	PTEN	NM_001304718.2(PTEN):c.-261_-260del	coding	Pathogenic
10	87933245	CA	C	A87933250G	PTEN	NM_000314.7(PTEN):c.491del:p.Lys164fs	coding	Pathogenic
10	87933250	AG	A	G87933252T	PTEN	NM_000314.8(PTEN):c.492+1del	coding	Pathogenic
10	87933259	A	AT	G87933266T	PTEN	NM_000314.7(PTEN):c.492+14dup	noncoding	Benign/Likely_benign
10	87952126	TA	T	A87952127T	PTEN	NM_001304718.2(PTEN):c.-90del	coding	Pathogenic
10	87952129	TC	T	C87952132A	PTEN	NM_001304718.2(PTEN):c.-85del	coding	Pathogenic
10	87952136	CAGAG	C	A87952137G	PTEN	NM_001304718.2(PTEN):c.-80_-77del	coding	Pathogenic
10	87952136	CAG	C	A87952139G	PTEN	NM_001304718.2(PTEN):c.-80_-79AG[1]	coding	Pathogenic
10	87952136	C	CA	G87952138A	PTEN	NM_001304718.2(PTEN):c.-80dup	coding	Pathogenic
10	87952139	AG	A	G87952141C	PTEN	NM_000314.8(PTEN):c.516del:p.Arg172fs	coding	Pathogenic
10	87952144	C	CT	A87952146T	PTEN	NM_000314.7(PTEN):c.520dup:p.Tyr174fs	coding	Pathogenic
10	87952149	TG	T	G87952150T	PTEN	NM_001304718.2(PTEN):c.-67del	coding	Pathogenic
10	87952159	TA	AT	T87952159A	PTEN	NM_001304718.2(PTEN):c.-58_-57delinsAT	coding	Pathogenic
10	87952165	CC	GT	C87952165G	PTEN	NM_001304718.2(PTEN):c.-52_-51delinsGT	coding	Pathogenic
10	87952168	G	GT	A87952171T	PTEN	NM_001304718.2(PTEN):c.-47dup	coding	Pathogenic
10	87952170	TAAAG	T	A87952173T	PTEN	NM_001304718.2(PTEN):c.-44_-41del	coding	Pathogenic
10	87952170	TA	T	A87952173G	PTEN	NM_001304718.2(PTEN):c.-44del	coding	Pathogenic
10	87952170	T	TA	G87952174A	PTEN	NM_000314.7(PTEN):c.548dup:p.Asn184fs	coding	Pathogenic
10	87952172	A	AAG	A87952176G	PTEN	NM_001304718.2(PTEN):c.-43_-42dup	coding	Pathogenic
10	87952172	AAG	T	A87952172T	PTEN	NM_001304718.2(PTEN):c.-45_-43delinsT	coding	Pathogenic
10	87952174	G	GA	T87952177A	PTEN	NM_001304718.2(PTEN):c.-41dup	coding	Pathogenic
10	87952179	ATC	A	C87952181G	PTEN	NM_001304718.2(PTEN):c.-36_-35del	coding	Pathogenic
10	87952207	G	GT	C87952211T	PTEN	NM_000314.7(PTEN):c.585dup:p.His196fs	coding	Pathogenic
10	87952207	GT	G	T87952210C	PTEN	NM_001304718.2(PTEN):c.-7del	coding	Pathogenic
10	87952210	TC	T	C87952211A	PTEN	NM_001304718.2(PTEN):c.-6del	coding	Pathogenic
10	87952230	CTA	C	A87952232T	PTEN	NM_000314.7(PTEN):c.607_608del:p.Ile203fs	coding	Pathogenic
10	87952239	TGTTCA	T	T87952242G	PTEN	NM_000314.7(PTEN):c.617_621del:p.Phe206fs	coding	Pathogenic
10	87952240	GTTCAGTGGCGGAACTTGC	CA	G87952240C	PTEN	NM_000314.8(PTEN):c.615_633delinsCA:p.Met205fs	coding	Pathogenic
10	87952249	CG	C	G87952251A	PTEN	NM_000314.8(PTEN):c.626del:p.Gly209fs	coding	Pathogenic
10	87952253	AC	A	C87952254T	PTEN	NM_000314.7(PTEN):c.629del:p.Thr210fs	coding	Pathogenic
10	87952256	T	TG	C87952258G	PTEN	NM_000314.7(PTEN):c.632dup:p.Cys211fs	coding	Pathogenic
10	87957860	G	GT	G87957864T	PTEN	NM_000314.8(PTEN):c.645dup:p.Val216fs	coding	Pathogenic
10	87957860	GT	G	T87957863G	PTEN	NM_000314.8(PTEN):c.645del:p.Phe215fs	coding	Pathogenic
10	87957863	TG	T	G87957864T	PTEN	NM_000314.7(PTEN):c.646del:p.Val216fs	coding	Pathogenic
10	87957889	TA	T	A87957890T	PTEN	NM_000314.8(PTEN):c.672del:p.Tyr225fs	coding	Pathogenic
10	87957902	T	TTC	A87957905T	PTEN	NM_000314.7(PTEN):c.685_686dup:p.Gly230fs	coding	Pathogenic
10	87957908	AC	A	C87957911A	PTEN	NM_000314.7(PTEN):c.693del:p.Thr232fs	coding	Pathogenic
10	87957920	GG	C	G87957920C	PTEN	NM_000314.7(PTEN):c.702_703delinsC:p.Glu235fs	coding	Pathogenic/Likely_pathogenic
10	87957921	GA	G	A87957923G	PTEN	NM_000314.7(PTEN):c.705del:p.Asp236fs	coding	Pathogenic
10	87957923	A	AG	A87957925G	PTEN	NM_000314.7(PTEN):c.706dup:p.Asp236fs	coding	Pathogenic
10	87957928	AG	A	G87957929T	PTEN	NM_000314.8(PTEN):c.711del:p.Lys237fs	coding	Pathogenic
10	87957932	CA	C	A87957933T	PTEN	NM_000314.8(PTEN):c.715del:p.Met239fs	coding	Pathogenic
10	87957937	AC	A	C87957938T	PTEN	NM_000314.8(PTEN):c.720del:p.Phe241fs	coding	Pathogenic
10	87957938	C	CCA	T87957939C	PTEN	NM_000314.7(PTEN):c.720_721insCA:p.Phe241fs	coding	Pathogenic
10	87957938	C	CT	G87957942T	PTEN	NM_000314.7(PTEN):c.723dup:p.Glu242Ter	coding	Pathogenic
10	87957938	C	CTT	G87957942T	PTEN	NM_000314.8(PTEN):c.722_723dup:p.Glu242fs	coding	Pathogenic
10	87957938	CT	C	T87957941G	PTEN	NM_000314.8(PTEN):c.723del:p.Phe241fs	coding	Pathogenic
10	87957940	T	TTG	A87957943T	PTEN	NM_000314.7(PTEN):c.723_724dup:p.Glu242fs	coding	Pathogenic
10	87957955	C	CGT	T87957958G	PTEN	NM_000314.7(PTEN):c.738_739dup:p.Leu247fs	coding	Pathogenic
10	87957956	G	GTA	T87957958A	PTEN	NM_000314.7(PTEN):c.739_740insAT:p.Leu247fs	coding	Pathogenic
10	87957956	GT	G	T87957958A	PTEN	NM_000314.7(PTEN):c.740del:p.Leu247fs	coding	Pathogenic
10	87957958	T	TA	C87957960A	PTEN	NM_000314.7(PTEN):c.741dup:p.Pro248fs	coding	Pathogenic
10	87957958	T	TAC	C87957961A	PTEN	NM_000314.7(PTEN):c.741_742dup:p.Pro248fs	coding	Pathogenic
10	87957961	C	CTGTG	G87957970T	PTEN	NM_000314.8(PTEN):c.748_751dup:p.Gly251fs	coding	Pathogenic
10	87957961	CT	C	T87957962G	PTEN	NM_000314.7(PTEN):c.744del:p.Val249fs	coding	Pathogenic
10	87957961	CTG	C	T87957968G	PTEN	NM_000314.7(PTEN):c.744_745TG[3]:p.Cys250fs	coding	Pathogenic
10	87957968	T	TC	G87957969C	PTEN	NM_000314.8(PTEN):c.750_751insC:p.Gly251fs	coding	Pathogenic
10	87957972	G	GAT	C87957977A	PTEN	NM_000314.7(PTEN):c.755_756AT[3]:p.Lys254fs	coding	Pathogenic
10	87957974	TATCA	T	T87957976A	PTEN	NM_000314.7(PTEN):c.758_761del:p.Ile253fs	coding	Pathogenic
10	87957974	T	TA	T87957976A	PTEN	NM_000314.7(PTEN):c.757dup:p.Ile253fs	coding	Pathogenic
10	87957980	A	AG	T87957982G	PTEN	NM_000314.7(PTEN):c.763dup:p.Val255fs	coding	Pathogenic
10	87957982	TAG	T	A87957985T	PTEN	NM_000314.7(PTEN):c.765_766AG[1]:p.Glu256fs	coding	Pathogenic
10	87957987	TTC	T	C87957989T	PTEN	NM_000314.7(PTEN):c.771_772del:p.Phe258fs	coding	Pathogenic
10	87957989	CTT	C	T87957990C	PTEN	NM_000314.7(PTEN):c.772_773del:p.Phe258fs	coding	Pathogenic
10	87957999	CAG	C	G87958001A	PTEN	NM_000314.7(PTEN):c.783_784del:p.Asn262fs	coding	Pathogenic
10	87958000	AG	A	G87958001A	PTEN	NM_000314.8(PTEN):c.783del:p.Asn262fs	coding	Pathogenic
10	87958008	A	ATG	C87958011T	PTEN	NM_000314.7(PTEN):c.791_792dup:p.Leu265fs	coding	Pathogenic
10	87958012	TAAAAAAGG	T	A87958013T	PTEN	NM_000314.8(PTEN):c.795_801+1del	coding	Pathogenic
10	87958012	TA	T	A87958018G	PTEN	NM_000314.7(PTEN):c.800del:p.Lys267fs	coding	Pathogenic
10	87958018	AG	A	G87958020T	PTEN	NM_000314.8(PTEN):c.801+1del	coding	Pathogenic
10	87958018	AG	T	A87958018T	PTEN	NM_000314.8(PTEN):c.800_801delinsT:p.Lys267fs	coding	Pathogenic
10	87960761	AATGATAGTTTATTTTGTTGACTTTTTGCAAATGTTTAACATAGGTGACAGATTTTCTTTTTTAAAAAAATAAAACATCATTAATTAAATATGTCATTTCATTTCTTTTTCTTTTCTTTTTTTTTTTTTTTAGGACAAAATGTTTCACTTTTGGGTAAATACATTCTTCATACCAGGACCAGAGGAAACCTCAGAAAAAGTAGAAAATGGAAGTCTATGTGATCAAGAAATCGATAGCATTTGCAGTATAGAGCGTGCAGATAATG	A	T87960763C	PTEN	NM_000314.8(PTEN):c.802-131_935del	noncoding	Pathogenic
10	87960840	ATTAATTAAATATGTCATTTCATTTCTTTTTCTTTTCTT	A	A87960843T	PTEN	NM_000314.7(PTEN):c.802-51_802-14del	noncoding	Benign
10	87960866	TTTTTC	T	C87960876T	PTEN	NM_000314.8(PTEN):c.802-18_802-14del	noncoding	Benign
10	87960876	C	CT	A87960892T	PTEN	NM_000314.6(PTEN):c.802-3dupT	noncoding	Benign
10	87960876	C	CTT	A87960892T	PTEN	NM_000314.8(PTEN):c.802-4_802-3dup	noncoding	Benign/Likely_benign
10	87960876	CT	C	T87960891A	PTEN	NM_000314.7(PTEN):c.802-3del	noncoding	Benign/Likely_benign
10	87960876	CTTT	C	T87960889A	PTEN	NM_000314.8(PTEN):c.802-5_802-3del	noncoding	Benign/Likely_benign
10	87960902	GT	G	T87960905C	PTEN	NM_000314.7(PTEN):c.813del:p.His272fs	coding	Pathogenic
10	87960912	TG	T	G87960915T	PTEN	NM_000314.8(PTEN):c.823del:p.Trp274_Val275insTer	coding	Pathogenic
10	87960914	GGT	G	G87960915A	PTEN	NM_000314.7(PTEN):c.823_824del:p.Val275fs	coding	Pathogenic
10	87960916	TA	T	A87960919T	PTEN	NM_000314.7(PTEN):c.827del:p.Asn276fs	coding	Pathogenic
10	87960920	T	TA	C87960922A	PTEN	NM_000314.8(PTEN):c.829dup:p.Thr277fs	coding	Pathogenic
10	87960930	AT	A	T87960931A	PTEN	NM_000314.8(PTEN):c.839del:p.Ile280fs	coding	Pathogenic
10	87960931	TAC	T	A87960932C	PTEN	NM_000314.7(PTEN):c.840_841del:p.Pro281fs	coding	Pathogenic
10	87960935	AG	A	G87960937A	PTEN	NM_000314.7(PTEN):c.845del:p.Gly282fs	coding	Pathogenic
10	87960940	CA	C	A87960941G	PTEN	NM_000314.7(PTEN):c.849del:p.Glu284fs	coding	Pathogenic
10	87960945	GAA	G	A87960947C	PTEN	NM_000314.8(PTEN):c.855_856del:p.Glu285fs	coding	Pathogenic
10	87960955	AAA	CT	A87960955C	PTEN	NM_000314.7(PTEN):c.863_865delinsCT:p.Glu288fs	coding	Pathogenic
10	87960957	A	ACT	A87960958C	PTEN	NM_000314.7(PTEN):c.865_866insCT:p.Lys289fs	coding	Pathogenic/Likely_pathogenic
10	87960957	A	ATTCT	A87960958T	PTEN	NM_000314.7(PTEN):c.865_866insTTCT:p.Lys289fs	coding	Pathogenic
10	87960961	TA	T	A87960962G	PTEN	NM_000314.7(PTEN):c.870del:p.Glu291fs	coding	Pathogenic
10	87960963	GA	G	A87960967T	PTEN	NM_000314.7(PTEN):c.875del:p.Asn292fs	coding	Pathogenic
10	87960963	G	GA	T87960968A	PTEN	NM_000314.7(PTEN):c.875dup:p.Asn292fs	coding	Pathogenic
10	87960975	C	CT	A87960977T	PTEN	NM_000314.7(PTEN):c.884dup:p.Cys296fs	coding	Pathogenic
10	87960975	C	CTT	A87960977T	PTEN	NM_000314.7(PTEN):c.884_885insTT:p.Cys296fs	coding	Pathogenic
10	87960975	CTA	C	A87960977G	PTEN	NM_000314.7(PTEN):c.885_886del:p.Leu295_Cys296insTer	coding	Pathogenic
10	87960975	CTATG	C	A87960977G	PTEN	NM_000314.7(PTEN):c.885_888del:p.Cys296fs	coding	Pathogenic
10	87960977	AT	A	T87960978G	PTEN	NM_000314.7(PTEN):c.886del:p.Cys296fs	coding	Pathogenic
10	87960983	TC	T	C87960984A	PTEN	NM_000314.7(PTEN):c.892del:p.Gln298fs	coding	Pathogenic
10	87960990	ATCGAT	A	T87960991A	PTEN	NM_000314.7(PTEN):c.899_903del:p.Ile300fs	coding	Pathogenic
10	87960991	TC	T	C87960992G	PTEN	NM_000314.7(PTEN):c.900del:p.Ile300fs	coding	Pathogenic
10	87960992	C	CG	A87960994G	PTEN	NM_000314.8(PTEN):c.901dup:p.Asp301fs	coding	Pathogenic
10	87961004	CA	C	A87961005G	PTEN	NM_000314.8(PTEN):c.913del:p.Ser305fs	coding	Pathogenic
10	87961005	AG	A	G87961006T	PTEN	NM_000314.7(PTEN):c.914del:p.Ser305fs	coding	Pathogenic
10	87961006	GT	G	T87961007A	PTEN	NM_000314.8(PTEN):c.915del:p.Ser305fs	coding	Pathogenic
10	87961008	A	AT	A87961010T	PTEN	NM_000314.7(PTEN):c.917dup:p.Glu307fs	coding	Pathogenic
10	87961020	GA	G	A87961021T	PTEN	NM_000314.8(PTEN):c.929del:p.Asp310fs	coding	Pathogenic
10	87961020	G	GGTGCA	A87961021G	PTEN	NM_000314.7(PTEN):c.928_929insGTGCA:p.Asp310fs	coding	Pathogenic
10	87961020	G	GTT	A87961021T	PTEN	NM_000314.7(PTEN):c.928_929insTT:p.Asp310fs	coding	Pathogenic
10	87961021	AT	A	T87961022A	PTEN	NM_000314.8(PTEN):c.930del:p.Asp310fs	coding	Pathogenic
10	87961024	A	ATGACAAGGAATATCTAGTACTTATC	C87961048T	PTEN	NM_000314.8(PTEN):c.955_956insTCTGACAAGGAATATCTAGTACTTA:p.Thr319delinsIleTer	coding	Pathogenic
10	87961028	CA	C	A87961030G	PTEN	NM_000314.7(PTEN):c.938del:p.Lys313fs	coding	Pathogenic
10	87961033	A	AATATCTAG	T87961042A	PTEN	NM_000314.7(PTEN):c.942_949dup:p.Val317delinsAspIleTer	coding	Pathogenic
10	87961038	CT	C	T87961039A	PTEN	NM_000314.7(PTEN):c.947del:p.Leu316fs	coding	Pathogenic
10	87961040	AG	A	G87961041T	PTEN	NM_000314.7(PTEN):c.949del:p.Val317fs	coding	Pathogenic
10	87961041	GTACT	G	A87961047T	PTEN	NM_000314.8(PTEN):c.951_954ACTT[1]:p.Leu318_Thr319insTer	coding	Pathogenic
10	87961044	CTTACT	C	C87961048A	PTEN	NM_000314.7(PTEN):c.956_960del:p.Thr319fs	coding	Pathogenic
10	87961046	T	TA	C87961048A	PTEN	NM_000314.7(PTEN):c.955dup:p.Thr319fs	coding	Pathogenic
10	87961047	ACTTT	A	C87961048A	PTEN	NM_000314.7(PTEN):c.956_959del:p.Thr319fs	coding	Pathogenic
10	87961048	CT	C	T87961051A	PTEN	NM_000314.7(PTEN):c.959del:p.Thr319_Leu320insTer	coding	Pathogenic
10	87961054	CA	C	A87961060T	PTEN	NM_000314.8(PTEN):c.968del:p.Asn323fs	coding	Pathogenic
10	87961054	C	CA	T87961061A	PTEN	NM_000314.7(PTEN):c.968dup:p.Asn323fs	coding	Pathogenic
10	87961063	AT	A	T87961064C	PTEN	NM_000314.8(PTEN):c.972del:p.Asp326fs	coding	Pathogenic
10	87961064	TC	T	C87961065T	PTEN	NM_000314.7(PTEN):c.973del:p.Asp326fs	coding	Pathogenic
10	87961065	C	CT	G87961068T	PTEN	NM_000314.8(PTEN):c.975dup:p.Asp326Ter	coding	Pathogenic
10	87961067	TGACAAAGCAAATA	CGCTT	T87961067C	PTEN	NM_000314.7(PTEN):c.975_988delinsCGCTT:p.Asp326_Lys330delinsAlaTer	coding	Pathogenic/Likely_pathogenic
10	87961074	G	GCAAATAAAGA	G87961089T	PTEN	NM_000314.7(PTEN):c.987_996dup:p.Ala333Ter	coding	Pathogenic
10	87961075	CAAAT	C	T87961079G	PTEN	NM_000314.7(PTEN):c.987_990del:p.Asn329fs	coding	Pathogenic
10	87961079	TAA	T	A87961081G	PTEN	NM_000314.8(PTEN):c.989_990del:p.Lys330fs	coding	Pathogenic
10	87961081	AAG	A	G87961083C	PTEN	NM_000314.7(PTEN):c.991_992del:p.Asp331fs	coding	Pathogenic
10	87961083	G	GAC	A87961087C	PTEN	NM_000314.7(PTEN):c.993_994dup:p.Lys332fs	coding	Pathogenic
10	87961085	C	CA	G87961089A	PTEN	NM_000314.7(PTEN):c.996dup:p.Ala333fs	coding	Pathogenic
10	87961093	AC	A	C87961095G	PTEN	NM_000314.8(PTEN):c.1003del:p.Arg335fs	coding	Pathogenic
10	87961097	A	AT	A87961099T	PTEN	NM_000314.7(PTEN):c.1006dup:p.Tyr336fs	coding	Pathogenic
10	87961100	CT	C	T87961104C	PTEN	NM_000314.7(PTEN):c.1012del:p.Ser338fs	coding	Pathogenic
10	87961104	TC	T	C87961105T	PTEN	NM_000314.8(PTEN):c.1013del:p.Ser338fs	coding	Pathogenic
10	87961106	TC	T	C87961108A	PTEN	NM_000314.7(PTEN):c.1016del:p.Pro339fs	coding	Pathogenic
10	87965287	GTGAAGCTGTAC	G	G87965289T	PTEN	NM_000314.7(PTEN):c.1029_1039del:p.Lys344fs	coding	Pathogenic/Likely_pathogenic
10	87965291	A	AG	C87965293G	PTEN	NM_000314.8(PTEN):c.1032dup:p.Leu345fs	coding	Pathogenic
10	87965292	G	GAC	C87965293A	PTEN	NM_000314.8(PTEN):c.1032_1033insAC:p.Leu345fs	coding	Pathogenic
10	87965293	CTGTACTTCACAAAAACA	C	T87965294G	PTEN	NM_000314.7(PTEN):c.1034_1050del:p.Leu345fs	coding	Pathogenic
10	87965303	C	CA	C87965309A	PTEN	NM_000314.7(PTEN):c.1048dup:p.Thr350fs	coding	Pathogenic
10	87965373	CAATG	C	T87965376C	PTEN	NM_000314.7(PTEN):c.1116_1119del:p.Glu373fs	coding	Pathogenic/Likely_pathogenic
10	87965536	CT	C	T87965547A	PTEN	NM_000314.7(PTEN):c.*75del	noncoding	Benign
10	88764578	CAG	C	G88764582C	LIPN	NM_001102469.1(LIPN):c.397_398GA[1]:p.Glu133fs	coding	Pathogenic
10	89003035	AC	A	C89003036G	FAS	NM_000043.6(FAS):c.38del:p.Thr13fs	coding	Pathogenic
10	89003043	TGC	T	G89003044T	FAS	NM_000043.6(FAS):c.46_47del:p.Val15_Ala16insTer	coding	Pathogenic
10	89003174	GC	G	C89003176A	FAS	NM_000043.6(FAS):c.178del:p.His60fs	coding	Pathogenic
10	89007731	TG	T	G89007735A	FAS	NM_000043.6(FAS):c.232del:p.Asp78fs	coding	Pathogenic
10	89007838	G	GT	A89007840T	FAS	NM_000043.6(FAS):c.334+2dup	noncoding	Pathogenic
10	89008968	TG	T	G89008969T	FAS	NM_000043.6(FAS):c.415del:p.Val139fs	coding	Pathogenic
10	89008993	AC	A	C89008995A	FAS	NM_000043.6(FAS):c.441del:p.Lys148fs	coding	Pathogenic
10	89010806	ATTGT	A	T89010810G	FAS	NM_000043.6(FAS):c.563_566del:p.Val188fs	coding	Pathogenic
10	89012043	GA	G	A89012047C	FAS	NM_000043.6(FAS):c.617del:p.Asn206fs	coding	Pathogenic
10	89012082	G	GTTGAAA	A89012084T	FAS	NM_000043.6(FAS):c.651+2_651+3insTGAAAT	noncoding	Pathogenic
10	89013347	CAG	C	A89013348T	FAS	NM_000043.6(FAS):c.657_658del:p.Val220fs	coding	Pathogenic
10	89014134	A	AT	A89014135T	FAS	NM_000043.6(FAS):c.692_693insT:p.Lys231fs	coding	Pathogenic
10	89014158	T	TCATG	A89014163C	FAS	NM_000043.6(FAS):c.717_720dup:p.Thr241fs	coding	Pathogenic
10	89014195	GA	G	A89014197T	FAS	NM_000043.6(FAS):c.755del:p.Asn252fs	coding	Pathogenic
10	89014320	CAT	C	A89014321T	FAS	NM_000043.6(FAS):c.879_880del:p.Leu294fs	coding	Pathogenic
10	89014409	G	GAAAATTCAAACTTCAGAAAT	G89014430A	FAS	NM_000043.6(FAS):c.968_987dup:p.Glu330fs	coding	Pathogenic
10	89223685	ATATT	A	T89223688A	LIPA	NM_000235.4(LIPA):c.817_820del:p.Asn273fs	coding	Pathogenic
10	89223701	CA	C	A89223702T	LIPA	NM_000235.4(LIPA):c.804del:p.Asn268fs	coding	Pathogenic
10	89223821	CA	C	A89223824T	LIPA	NM_000235.4(LIPA):c.684del:p.Phe228fs	coding	Pathogenic
10	89225172	C	CA	C89225179A	LIPA	NM_000235.4(LIPA):c.594dup:p.Ala199fs	coding	Pathogenic/Likely_pathogenic
10	89225233	GA	AG	G89225233A	LIPA	NM_000235.4(LIPA):c.539-6_539-5delinsCT	noncoding	Benign
10	89226950	AT	A	T89226952C	LIPA	NM_000235.4(LIPA):c.482del:p.Asn161fs	coding	Pathogenic/Likely_pathogenic
10	89226973	C	CT	G89226975T	LIPA	NM_000235.4(LIPA):c.459dup:p.Ala154fs	coding	Pathogenic
10	89228229	TGA	T	A89228233T	LIPA	NM_000235.4(LIPA):c.395_396TC[1]:p.Val134fs	coding	Pathogenic
10	89228229	TG	T	G89228230A	LIPA	NM_000235.4(LIPA):c.398del:p.Leu132_Ser133insTer	coding	Pathogenic
10	89228277	C	CGG	A89228278G	LIPA	NM_000235.4(LIPA):c.350_351insCC:p.Met117fs	coding	Pathogenic/Likely_pathogenic
10	90915892	GA	G	A90915896C	ANKRD1	NM_014391.2(ANKRD1):c.652-13del	noncoding	Benign/Likely_benign
10	90918090	ACTATCTAAATG	A	A90918093G	ANKRD1	NM_014391.2(ANKRD1):c.454-271_454-261del	noncoding	Benign
10	90918980	CAAAATA	C	A90918983T	ANKRD1	NM_014391.2(ANKRD1):c.346-14_346-9del	noncoding	Benign/Likely_benign
10	90918983	AATAAATAAATATATATATATATAT	A	A90918987T	ANKRD1	NM_014391.2(ANKRD1):c.346-35_346-12del	noncoding	Benign/Likely_benign
10	90918985	TAAATAA	T	A90918987T	ANKRD1	NM_014391.2(ANKRD1):c.346-19_346-14del	noncoding	Benign
10	90918986	A	AT	A90918987T	ANKRD1	NM_014391.2(ANKRD1):c.346-15_346-14insA	noncoding	Benign
10	90918989	TAA	T	A90918991T	ANKRD1	NM_014391.2(ANKRD1):c.346-19_346-18del	noncoding	Benign
10	90919113	CA	C	A90919122G	ANKRD1	NM_014391.2(ANKRD1):c.345+17del	noncoding	Benign
10	92593375	CAT	AA	C92593375A	KIF11	NM_004523.4(KIF11):c.-1_2delinsAA:p.Met1fs	coding	Pathogenic
10	92593399	TGC	AG	T92593399A	KIF11	NM_004523.4(KIF11):c.24_26delinsAG:p.Ala9fs	coding	Pathogenic
10	92606286	G	GA	G92606290A	KIF11	NM_004523.4(KIF11):c.102dup:p.Ala35fs	coding	Pathogenic
10	92606296	GC	G	C92606299A	KIF11	NM_004523.4(KIF11):c.112del:p.His38fs	coding	Pathogenic
10	92609106	GTC	G	C92609110G	KIF11	NM_004523.4(KIF11):c.476_477CT[1]:p.Leu160fs	coding	Pathogenic
10	92613032	TTTTCTAGTCGTTCC	T	T92613033C	KIF11	NM_004523.4(KIF11):c.699-7_705del	noncoding	Pathogenic
10	92616740	ACT	A	C92616743G	KIF11	NM_004523.4(KIF11):c.1037_1038CT[1]:p.Leu347fs	coding	Pathogenic
10	92616743	C	CT	G92616745T	KIF11	NM_004523.4(KIF11):c.1040dup:p.Ser348fs	coding	Pathogenic
10	92616814	C	CA	G92616821A	KIF11	NM_004523.4(KIF11):c.1116dup:p.Ala373fs	coding	Pathogenic
10	92621430	GC	G	C92621433G	KIF11	NM_004523.4(KIF11):c.1177del:p.Arg393fs	coding	Pathogenic
10	92632582	CA	C	A92632583G	KIF11	NM_004523.4(KIF11):c.1592del:p.Gln531fs	coding	Pathogenic
10	92637396	CA	C	A92637403G	KIF11	NM_004523.4(KIF11):c.2018del:p.Lys673fs	coding	Pathogenic
10	92645392	CTT	C	T92645395C	KIF11	NM_004523.4(KIF11):c.2300_2301del:p.Phe767fs	coding	Pathogenic
10	92645527	TATCTC	T	T92645529A	KIF11	NM_004523.4(KIF11):c.2434_2438del:p.Ser812fs	coding	Pathogenic/Likely_pathogenic
10	92648312	AG	A	G92648313A	KIF11	NM_004523.4(KIF11):c.2649del:p.Gln883_Met884insTer	coding	Pathogenic
10	92648358	TAATG	T	T92648361A	KIF11	NM_004523.4(KIF11):c.2697_2700del:p.Asn899fs	coding	Pathogenic
10	93507039	G	GA	T93507043A	CEP55	NM_018131.5(CEP55):c.514dup:p.Ile172fs	coding	Pathogenic
10	93612801	AG	A	G93612803A	PDE6C	NM_006204.4(PDE6C):c.78del:p.Lys27fs	coding	Pathogenic
10	93612978	C	CAG	G93612983A	PDE6C	NM_006204.4(PDE6C):c.254_255AG[3]:p.Leu87fs	coding	Pathogenic
10	93620647	GA	G	A93620648C	PDE6C	NM_006204.4(PDE6C):c.497del:p.Asp166fs	coding	Pathogenic
10	93622063	CA	C	A93622065G	PDE6C	NM_006204.4(PDE6C):c.857del:p.Lys286fs	coding	Pathogenic
10	93640501	T	TA	C93640503A	PDE6C	NM_006204.4(PDE6C):c.1682dup:p.Tyr561Ter	coding	Pathogenic
10	93658985	TCCAA	T	C93658990G	PDE6C	NM_006204.4(PDE6C):c.2126_2129del:p.Thr709fs	coding	Pathogenic
10	93662577	CAA	C	A93662580G	PDE6C	NM_006204.4(PDE6C):c.2304_2305del:p.Arg769_Asp770insTer	coding	Pathogenic/Likely_pathogenic
10	93793269	GC	G	C93793270T	LGI1	NM_005097.4(LGI1):c.758del:p.Ala253fs	coding	Pathogenic
10	93797285	G	GAAATAGTCAGA	C93797298A	LGI1	NM_005097.4(LGI1):c.1158_1168dup:p.Thr390delinsLysTer	coding	Pathogenic
10	93797565	TCCAG	T	A93797568T	LGI1	NM_005097.4(LGI1):c.1439_1442del:p.Gln480fs	coding	Pathogenic
10	93797593	AT	A	T93797594A	LGI1	NM_005097.4(LGI1):c.1465del:p.Tyr489fs	coding	Pathogenic
10	93797708	CAT	C	A93797709G	LGI1	NM_005097.4(LGI1):c.1580_1581del:p.His527fs	coding	Pathogenic
10	94032191	CG	C	G94032192T	PLCE1	NM_016341.4(PLCE1):c.1146del:p.Ser383fs	coding	Pathogenic
10	94262521	TG	T	G94262525T	PLCE1	NM_016341.4(PLCE1):c.3846del:p.Leu1283fs	coding	Pathogenic
10	94562813	T	TATGAGGAA	A94562823T	HELLS	NM_018063.5(HELLS):c.374_381dup:p.Lys128Ter	coding	Pathogenic
10	94562819	GA	G	A94562826G	HELLS	NM_018063.5(HELLS):c.385del:p.Arg129fs	coding	Pathogenic
10	94596890	ATCTG	A	G94596894A	HELLS	NM_018063.5(HELLS):c.2283_2286del:p.Ser762fs	coding	Pathogenic
10	94597082	AGTT	A	G94597089A	HELLS	NM_018063.5(HELLS):c.2394_2396GTT[2]:p.Leu801del	coding	Pathogenic
10	95067213	GT	G	T95067218C	CYP2C8	CYP2C8*5	coding	Pathogenic
10	95610271	AG	A	G95610273A	ALDH18A1	NM_002860.4(ALDH18A1):c.2131del:p.Leu711fs	coding	Pathogenic
10	95612342	AGGCTGGTCACCGAGGATCCCAATCACAAGCTGGATCCCACTTAAACCTTGTTTTCTGAGACATCCCCAGGACAGGGTTCATGCCTTGATTCTTTGGGATCAAGCTTTTGCCTTGGCTCAAGTTATAAGTGGTGTCTGCCTTATCCTCATGATTCCCGAGGCCCTGCCATTGTTTCTTATCTGGGATCTCACTTCTTCTGTGTTCCTTGGGGACTGGAACCCCATCCCTGTGCAAGTCATCCTTCTAGCTTTACTTTCTGCCATCCAAAAGTGCTGTATGAAGTACACACAGTGACTCATTTTGATTTGGAATTTCAAGGCCATCCTCATTTTAATGACTGAGGATACCACTTGTGTGTTCAAATTAGGTCTGGGGAGGGATTTAGTCCTGGCTAAAGGAGAGCTTTCCTCCTGTCTAATCCAGTTCACTGTGGTGCTTGGCAAACACAGGTGCCCAATCAACAGGCTTCCTTACCAAAGTAAAGTAAGGTCCCCGAACATGAATGACCATGTGATCTAACTTCCTTGTAATCCATGGAGTACAGTTTCATTTTTAAAACAATTCTTTCCAGTTCTCACTGGGACCATGCCACATTTATAAGCTAACTGGAGCCTTCCTTTCCAGTCAAAGGATGGAAGGGAAGAGACATATGTTCAGAGTCAAAGCAACCAAGGCCAACAAGCACCTTCTCTACTGCCATGCTGGTTTATATAACTCTGAAAGTGTACTATGACATCAGAAATTAAAGCTTAAAATGCATCCATGCAGAGAGTTTAACAGATTGTCCATTTTTGCCTTGAGGGCATCTATTATATTTTCTTGCAGGCATGAATTTAGGACACAGCACAACTTTATATTTGAAACTTACTGGCTTTTGGTTTGTTTACAACCTTAACAATATAGTAAAAACATAATCCAGGGAGACATTCTACAAATTACTGAATCCCAAATATCACTGCATTAAGTACACTAATATTGGTAACCAAAGACACTGGGGGGAGGCAGTGAATGTACATAAGTTTTTGGTTTGAAACGTTTCTGCACCATCTTTTCAAATCAAATCCAAAAAATAATATATGCTTGGGAACACCTTGCATATATAAGGTTGCCAGAAACAGTTCAGTCAGCATAGTGCCATGTGGTCTGTCTTACCTTTGAACCCTCTTTAGCACACAACACATTCCACTTTGTAATAAAGCTATTTGTGTATTGGTTTGGTTCGACTACTAGAGGGCAGGGGTTGTGTTTTACTCACACTTTACTTAGCATGGAACTTTGTACACAGAAGATATTAAAAAATATTGTTTCTTAAACTGCCTTATATGGTATGGCTGTGCCTGGTCTAATTCCACAGGCTTCTAAGACAGGAAGTAATGTACTAGTCCTATGGAACTCTTACCTGTTCCACTCTCAGCATATCAATGATCTGGTCAAATAATGGTGTCCTGAGCAGATCCCGGTGGATTAACAAAGTCTCCAAAGCATTACAGGCAGCTGGATATTCACATTTAGAGTCTCTGACT	A	G95612344A	ALDH18A1	NM_002860.4(ALDH18A1):c.1802-2_1924-901del	noncoding	Pathogenic
10	95613436	G	GA	C95613437A	ALDH18A1	NM_002860.4(ALDH18A1):c.1923+305_1923+306insT	noncoding	Benign
10	95613438	A	ACG	T95613439C	ALDH18A1	NM_002860.4(ALDH18A1):c.1923+303_1923+304insCG	noncoding	Benign
10	95613439	T	TGA	A95613440G	ALDH18A1	NM_002860.4(ALDH18A1):c.1923+302_1923+303insTC	noncoding	Benign
10	95633025	TA	T	A95633026T	ALDH18A1	NM_002860.4(ALDH18A1):c.741del:p.Asp247fs	coding	Pathogenic
10	95680346	T	TGG	A95680347G	TCTN3	NM_015631.6(TCTN3):c.1590+125_1590+126insCC	noncoding	Benign
10	95682673	AGGATCCT	A	A95682676T	TCTN3	NM_015631.6(TCTN3):c.1423_1429del:p.Arg475fs	coding	Pathogenic
10	95682753	AAG	A	A95682756T	TCTN3	NM_015631.6(TCTN3):c.1346_1347CT[1]:p.Leu450fs	coding	Pathogenic
10	95687651	ACT	A	C95687654G	TCTN3	NM_015631.6(TCTN3):c.564_565AG[1]:p.Glu189fs	coding	Pathogenic
10	95845551	TGG	T	G95845553A	ENTPD1	NM_001776.6(ENTPD1):c.770_771del:p.Gly257fs	coding	Pathogenic
10	96242783	GC	G	C96242785T	BLNK	NM_013314.3(BLNK):c.114delG	coding	Pathogenic
10	97572621	TGGC	T	G97572622C	ANKRD2	NM_020349.4(ANKRD2):c.-86_-84del	coding	Benign
10	97584818	TACCCCCCTGTGACC	T	C97584825T	HOGA1	NM_138413.4(HOGA1):c.122_135del:p.Pro41fs	coding	Pathogenic
10	97584825	CT	C	T97584826G	HOGA1	NM_138413.4(HOGA1):c.123del:p.Pro41_Val42insTer	coding	Pathogenic/Likely_pathogenic
10	97584860	GA	G	A97584861C	HOGA1	NM_138413.4(HOGA1):c.158del:p.Asp53fs	coding	Pathogenic
10	97600115	CA	C	A97600116G	HOGA1	NM_138413.4(HOGA1):c.653del:p.Gln218fs	coding	Pathogenic
10	97601863	T	TG	C97601870G	HOGA1	NM_138413.4(HOGA1):c.713dup:p.Val239fs	coding	Pathogenic
10	97601957	ACTG	A	T97601959A	HOGA1	NM_138413.4(HOGA1):c.803_805del:p.Leu268del	coding	Pathogenic
10	97601990	GG	TT	G97601990T	HOGA1	NM_138413.4(HOGA1):c.834_834+1delinsTT	coding	Pathogenic
10	97611611	TGAG	T	A97611619C	HOGA1	NM_138413.4(HOGA1):c.938_940AGG[2]:p.Glu315del	coding	Pathogenic
10	98422395	G	GC	T98422400C	HPS1	NM_000195.5(HPS1):c.1716dup:p.Pro573fs	coding	Pathogenic
10	98422420	CT	C	T98422424G	HPS1	NM_000195.5(HPS1):c.1691del:p.Lys564fs	coding	Pathogenic
10	98423797	T	TGGGCCTCCCCTGCTGG	T98423818C	HPS1	NM_000195.5(HPS1):c.1472_1487dup:p.His497fs	coding	Pathogenic
10	98424305	CC	AG	C98424305A	HPS1	NM_000195.5(HPS1):c.1397+7_1397+8delinsCT	noncoding	Benign/Likely_benign
10	98424334	CT	C	T98424338G	HPS1	NM_000195.5(HPS1):c.1375del:p.Ser459fs	coding	Pathogenic
10	98425552	G	GT	G98425554T	HPS1	NM_000195.5(HPS1):c.1323dup:p.Gln442fs	coding	Pathogenic
10	98425686	TG	T	G98425689A	HPS1	NM_000195.5(HPS1):c.1189del:p.Gln397fs	coding	Pathogenic/Likely_pathogenic
10	98425950	GTGGGGAACCAGTGTTTGGAGGGTGTCCTCTGCTATCTACAGAGGAAGAAGAGCTGCAGTGAGAGGTGGGATCCCTAAGT	A	G98425950A	HPS1	NM_000195.5(HPS1):c.988-44_1023delinsT	coding	Pathogenic
10	98427227	C	CG	A98427228G	HPS1	NM_000195.5(HPS1):c.974_975insC:p.Met325fs	coding	Pathogenic
10	98427229	TG	T	G98427237T	HPS1	NM_000195.5(HPS1):c.972del:p.Met325fs	coding	Pathogenic
10	98427229	T	TG	T98427238G	HPS1	NM_000195.5(HPS1):c.972dup:p.Met325fs	coding	Pathogenic/Likely_pathogenic
10	98427239	GC	G	C98427245T	HPS1	NM_000195.5(HPS1):c.962del:p.Gly321fs	coding	Pathogenic
10	98427239	G	GC	T98427246C	HPS1	NM_000195.5(HPS1):c.962dup:p.Thr322fs	coding	Pathogenic
10	98429577	GC	G	C98429578T	HPS1	NM_000195.5(HPS1):c.932del:p.Ser311fs	coding	Pathogenic
10	98429805	TC	T	C98429811A	HPS1	NM_000195.5(HPS1):c.852del:p.Ser285fs	coding	Pathogenic
10	98429837	C	CA	G98429839A	HPS1	NM_000195.5(HPS1):c.820dup:p.Trp274fs	coding	Pathogenic
10	98431246	CTA	C	A98431248G	HPS1	NM_000195.5(HPS1):c.551_552del:p.Ile184fs	coding	Pathogenic
10	98431266	T	TG	T98431272G	HPS1	NM_000195.5(HPS1):c.532dup:p.Gln178fs	coding	Pathogenic
10	98434013	CAGGCGGCTGT	C	C98434017T	HPS1	NM_000195.5(HPS1):c.467_476del:p.Tyr156fs	coding	Pathogenic
10	98434071	GC	G	C98434073A	HPS1	NM_000195.5(HPS1):c.418del:p.Ala140fs	coding	Pathogenic
10	98435314	TG	T	G98435315C	HPS1	NM_000195.5(HPS1):c.355del:p.His119fs	coding	Pathogenic
10	98435381	CA	C	A98435382C	HPS1	NM_000195.5(HPS1):c.288del:p.Asp97fs	coding	Pathogenic
10	98435647	ATACAGGAAGT	A	A98435649G	HPS1	NM_000195.5(HPS1):c.233_242del:p.Asn78fs	coding	Pathogenic
10	98435651	AG	A	G98435653A	HPS1	NM_000195.5(HPS1):c.238del:p.Leu80fs	coding	Pathogenic
10	98435721	AGAT	A	T98435727C	HPS1	NM_000195.5(HPS1):c.163_165ATC[1]:p.Ile56del	coding	Pathogenic
10	98490050	CTT	C	T98490051G	HPSE2	NM_001166244.1(HPSE2):c.1291_1292del:p.Asn431fs	coding	Pathogenic
10	99235560	CAG	C	A99235567G	HPSE2	NM_001166244.1(HPSE2):c.235_236CT[3]:p.Leu81fs	coding	Pathogenic
10	99235745	C	CG	C99235753G	HPSE2	NM_021828.4(HPSE2):c.57dup:p.Ala20fs	coding	Pathogenic
10	99397621	CGTT	C	T99397623A	GOT1	NM_002079.3(GOT1):c.1165_1167del:p.Asn389del	coding	Pathogenic
10	99711101	C	CA	C99711110A	COX15	NM_078470.6(COX15):c.*3485dup	noncoding	Benign
10	99727414	GTTTACCT	G	T99727415A	COX15	NM_078470.6(COX15):c.395+20_395+26del	noncoding	Benign
10	99727553	ACT	A	C99727556G	COX15	NM_078470.6(COX15):c.279_280AG[1]:p.Glu94fs	coding	Pathogenic
10	99793897	CA	C	A99793899T	ABCC2	NM_000392.5(ABCC2):c.476del:p.Asn159fs	coding	Pathogenic
10	99797160	G	GA	T99797162A	ABCC2	NM_000392.5(ABCC2):c.697dup:p.Met233fs	coding	Pathogenic
10	99797284	CCT	C	C99797285G	ABCC2	NM_000392.5(ABCC2):c.821_822del:p.Pro274fs	coding	Pathogenic
10	99799349	TTG	T	T99799352A	ABCC2	NM_000392.5(ABCC2):c.1011_1012TG[1]:p.Val338fs	coding	Pathogenic
10	99799350	TGTGA	T	G99799353C	ABCC2	NM_000392.5(ABCC2):c.1014_1017del:p.Ser339fs	coding	Pathogenic
10	99804099	GC	G	C99804100T	ABCC2	NM_000392.5(ABCC2):c.1291del:p.Leu431fs	coding	Pathogenic
10	99817472	GA	G	A99817473T	ABCC2	NM_000392.5(ABCC2):c.2260del:p.Ile754fs	coding	Pathogenic
10	99818839	C	CT	A99818841T	ABCC2	NM_000392.4(ABCC2):c.2322dup:p.Thr775Tyrfs	coding	Pathogenic
10	99818841	AC	A	C99818843T	ABCC2	NM_000392.5(ABCC2):c.2325del:p.Tyr776fs	coding	Pathogenic
10	99818943	CT	C	T99818944G	ABCC2	NM_000392.5(ABCC2):c.2426del:p.Leu809fs	coding	Pathogenic
10	99830819	CTAAT	C	T99830823G	ABCC2	NM_000392.5(ABCC2):c.2855_2858del:p.Ile952fs	coding	Pathogenic
10	99832083	A	AT	G99832090T	ABCC2	NM_000392.5(ABCC2):c.3216dup:p.Asp1073Ter	coding	Pathogenic
10	99832090	GACACAAC	G	A99832093C	ABCC2	NM_000392.5(ABCC2):c.3220_3226del:p.Thr1074fs	coding	Pathogenic
10	99834455	AC	A	C99834458T	ABCC2	NM_000392.5(ABCC2):c.3337del:p.Val1114fs	coding	Pathogenic
10	99834518	ATT	A	T99834520A	ABCC2	NM_000392.5(ABCC2):c.3399_3400del:p.Tyr1134fs	coding	Pathogenic
10	99836096	TTA	T	A99836098G	ABCC2	NM_000392.5(ABCC2):c.3422_3423del:p.Tyr1141fs	coding	Pathogenic
10	99836138	CA	C	A99836139C	ABCC2	NM_000392.5(ABCC2):c.3463del:p.Thr1155fs	coding	Pathogenic
10	99836145	TCC	T	C99836148A	ABCC2	NM_000392.5(ABCC2):c.3472_3473del:p.Pro1158fs	coding	Pathogenic
10	99836175	G	GT	A99836177T	ABCC2	NM_000392.5(ABCC2):c.3500dup:p.Ser1168fs	coding	Pathogenic
10	99847051	G	GCT	A99847055T	ABCC2	NM_000392.5(ABCC2):c.4239_4240dup:p.His1414fs	coding	Pathogenic
10	99847053	T	TTC	C99847054T	ABCC2	NM_000392.5(ABCC2):c.4239_4240insTC:p.His1414fs	coding	Pathogenic
10	99896369	ATC	A	C99896371T	DNMBP	NM_015221.4(DNMBP):c.2947_2948del:p.Glu982_Asp983insTer	coding	Pathogenic
10	99898150	ATTGG	A	G99898153A	DNMBP	NM_015221.4(DNMBP):c.2852_2855del:p.Thr951fs	coding	Pathogenic
10	100246864	AT	A	T100246865C	CWF19L1	NM_018294.6(CWF19L1):c.779del:p.Asp260fs	coding	Pathogenic
10	100529402	GT	G	T100529404C	NDUFB8	NM_005004.4(NDUFB8):c.189del:p.Glu63fs	coding	Pathogenic
10	100749759	T	TGTGAACC	A100749767G	PAX2	NM_000278.5(PAX2):c.58_64dup:p.Gln22fs	coding	Pathogenic
10	100749771	C	CGG	T100749779G	PAX2	NM_000278.5(PAX2):c.75_76dup:p.Val26fs	coding	Pathogenic
10	100749771	C	CG	T100749779G	PAX2	NM_000278.5(PAX2):c.76dup:p.Val26fs	coding	Pathogenic
10	100749771	CG	C	G100749778T	PAX2	NM_000278.5(PAX2):c.76del:p.Val26fs	coding	Pathogenic
10	100749818	AGC	A	G100749821A	PAX2	NM_000278.5(PAX2):c.117_118GC[1]:p.Arg40fs	coding	Pathogenic
10	100749831	GCTGGCCCACCAGGGTGTGCGGC	G	T100749833C	PAX2	NM_000278.5(PAX2):c.131_152del:p.Leu44fs	coding	Pathogenic
10	100750703	G	GAC	C100750706A	PAX2	NM_000278.5(PAX2):c.223_224dup:p.Gly76fs	coding	Pathogenic
10	100750720	C	CGGGTG	T100750726G	PAX2	NM_000278.5(PAX2):c.240_244dup:p.Val82fs	coding	Pathogenic
10	100750843	A	AGG	C100750847G	PAX2	NM_000278.5(PAX2):c.364_365dup:p.Ile123fs	coding	Pathogenic
10	100781309	TC	T	C100781310A	PAX2	NM_000278.5(PAX2):c.561del:p.Asn188fs	coding	Pathogenic
10	100988255	AC	A	C100988259T	TWNK	NM_021830.5(TWNK):c.49del:p.Leu17fs	coding	Pathogenic
10	100988540	CT	C	T100988543C	TWNK	NM_021830.5(TWNK):c.333del:p.Leu112fs	coding	Pathogenic
10	100989860	CTT	C	T100989862C	TWNK	NM_021830.5(TWNK):c.1462_1463del:p.Phe488fs	coding	Pathogenic
10	101010536	T	TGCTGCG	A101010558G	PDZD7	NM_001195263.2(PDZD7):c.2335_2340CGCAGC[4]:p.773_774RS[7]	coding	Benign
10	101010552	GCGGCTACGGCTGCGGCTA	G	A101010558C	PDZD7	NM_001195263.2(PDZD7):c.2319_2336del:p.773_774RS[3]	coding	Benign/Likely_benign
10	101010781	CT	C	T101010783G	PDZD7	NM_001195263.2(PDZD7):c.2107del:p.Ser703fs	coding	Pathogenic/Likely_pathogenic
10	101018283	CT	C	T101018284G	PDZD7	NM_001195263.2(PDZD7):c.1337del:p.Gln446fs	coding	Pathogenic
10	101018938	TG	T	G101018943C	PDZD7	NM_001195263.2(PDZD7):c.1207del:p.His403fs	coding	Pathogenic
10	101019133	CT	C	T101019134G	PDZD7	NM_001195263.2(PDZD7):c.1012del:p.Ser338fs	coding	Pathogenic
10	101020597	TG	T	G101020600A	PDZD7	NM_001195263.2(PDZD7):c.928+20del	noncoding	Benign
10	101030053	C	CG	C101030061G	PDZD7	NM_001195263.2(PDZD7):c.166dup:p.Arg56fs	coding	Pathogenic
10	101770490	AGCCCTTGCGGGGCCG	A	G101770502T	FGF8	NM_033164.4(FGF8):c.526_540del:p.Arg176_Gly180del	coding	Pathogenic
10	102065628	GT	G	T102065629A	HPS6	NM_024747.5(HPS6):c.155del:p.Val52fs	coding	Pathogenic
10	102065755	TG	T	G102065757T	HPS6	NM_024747.5(HPS6):c.283del:p.Val95fs	coding	Pathogenic
10	102066538	T	TG	C102066540G	HPS6	NM_024747.5(HPS6):c.1065dup:p.Leu356fs	coding	Pathogenic
10	102067097	TG	T	G102067098A	HPS6	NM_024747.5(HPS6):c.1624del:p.Asp542fs	coding	Pathogenic
10	102067184	GTGTC	G	C102067188G	HPS6	NM_024747.5(HPS6):c.1714_1717del:p.Leu572fs	coding	Pathogenic
10	102067185	T	TAG	G102067186A	HPS6	NM_024747.5(HPS6):c.1711_1712insAG:p.Cys571Ter	coding	Pathogenic
10	102067334	GGCTCTGGA	G	C102067338A	HPS6	NM_024747.5(HPS6):c.1864_1871del:p.Leu622fs	coding	Pathogenic
10	102067338	CTG	C	T102067339G	HPS6	NM_024747.5(HPS6):c.1865_1866del:p.Leu622fs	coding	Pathogenic
10	102067370	GC	G	C102067372T	HPS6	NM_024747.5(HPS6):c.1898del:p.Pro633fs	coding	Pathogenic
10	102230766	G	GCCCAGGCCCTGCAGGGC	G102230795C	PITX3	NM_005029.4(PITX3):c.640_656dup:p.Gly220fs	coding	Pathogenic
10	102230772	GC	G	C102230775T	PITX3	NM_005029.4(PITX3):c.650del:p.Gly217fs	coding	Pathogenic
10	102402136	CCCGAGACA	C	C102402137A	NFKB2	NM_001322934.2(NFKB2):c.2556_2563del:p.Arg853fs	coding	Pathogenic
10	102402143	CA	C	A102402145G	NFKB2	NM_001322934.2(NFKB2):c.2564del:p.Lys855fs	coding	Pathogenic
10	102504216	GC	G	C102504223G	SUFU	NM_016169.3(SUFU):c.71del:p.Pro24fs	coding	Pathogenic
10	102504216	G	GC	G102504224C	SUFU	NM_016169.3(SUFU):c.71dup:p.Ala25fs	coding	Pathogenic
10	102504262	TC	T	C102504263T	SUFU	NM_016169.3(SUFU):c.111del:p.Tyr38fs	coding	Pathogenic
10	102504274	G	GC	G102504277C	SUFU	NM_016169.4(SUFU):c.124dup:p.Arg42fs	coding	Pathogenic
10	102504294	C	CA	G102504296A	SUFU	NM_016169.3(SUFU):c.143dup:p.Pro49fs	coding	Pathogenic
10	102504322	T	TC	G102504324C	SUFU	NM_016169.3(SUFU):c.171dup:p.Val58fs	coding	Pathogenic
10	102509101	AG	A	G102509102C	SUFU	NM_016169.3(SUFU):c.183-67del	noncoding	Benign
10	102549992	AG	A	G102549993T	SUFU	NM_016169.3(SUFU):c.341del:p.Ser114fs	coding	Pathogenic
10	102592367	C	CCATTT	A102592368C	SUFU	NM_016169.3(SUFU):c.455-215_455-214insCATTT	noncoding	Benign
10	102592711	T	TTA	C102592714T	SUFU	NM_016169.3(SUFU):c.585_586dup:p.Thr196fs	coding	Pathogenic
10	102593684	GGGCAGGGCATCCT	G	C102593687A	SUFU	NM_016169.3(SUFU):c.649_661del:p.Gln217fs	coding	Pathogenic
10	102597193	T	TGCCAAGTG	T102597202G	SUFU	NM_016169.4(SUFU):c.811_818dup:p.Cys273fs	coding	Pathogenic
10	102597223	G	GC	G102597230C	SUFU	NM_016169.3(SUFU):c.846dup:p.Glu283fs	coding	Pathogenic
10	102597229	C	CG	A102597231G	SUFU	NM_016169.4(SUFU):c.847dup:p.Glu283fs	coding	Pathogenic
10	102597271	GC	G	C102597275G	SUFU	NM_016169.4(SUFU):c.892del:p.Arg298fs	coding	Pathogenic
10	102597278	C	CTGTGT	G102597279T	SUFU	NM_016169.3(SUFU):c.895_896insTGTGT:p.Arg299fs	coding	Pathogenic
10	102599528	GC	G	C102599531A	SUFU	NM_016169.4(SUFU):c.1009del:p.His337fs	coding	Pathogenic
10	102617352	C	CT	G102617353T	SUFU	NM_016169.4(SUFU):c.1220_1221insT:p.Phe408fs	coding	Pathogenic
10	102830761	TGAAAGAGTC	T	A102830764T	CYP17A1	NM_000102.4(CYP17A1):c.1459_1467del:p.Asp487_Phe489del	coding	Pathogenic
10	102832644	CA	C	A102832645T	CYP17A1	NM_000102.4(CYP17A1):c.1005del:p.Asn335fs	coding	Pathogenic
10	102832663	GTA	TT	G102832663T	CYP17A1	NM_000102.4(CYP17A1):c.985_987delinsAA:p.Tyr329fs	coding	Pathogenic
10	102833022	TCCATTTAA	T	T102833026C	CYP17A1	NM_000102.4(CYP17A1):c.932_939del:p.Val311fs	coding	Pathogenic
10	102833092	GT	G	T102833094A	CYP17A1	NM_000102.4(CYP17A1):c.869del:p.Asn290fs	coding	Pathogenic
10	102834113	T	TG	A102834118G	CYP17A1	NM_000102.4(CYP17A1):c.675dup:p.Asn226fs	coding	Pathogenic
10	102837131	GCCGACAATCACTGTAGTCTTGGTGC	G	G102837134A	CYP17A1	NM_000102.4(CYP17A1):c.206_230del:p.Gly69fs	coding	Pathogenic
10	102837199	TGAA	T	A102837204T	CYP17A1	NM_000102.4(CYP17A1):c.157_159TTC[1]:p.Phe54del	coding	Pathogenic
10	102918592	CG	C	G102918597A	CNNM2	NM_017649.5(CNNM2):c.117del:p.Ile40fs	coding	Pathogenic
10	103090982	CT	C	T103090983G	NT5C2	NM_012229.4(NT5C2):c.1225del:p.Ser409fs	coding	Pathogenic
10	103092902	A	AAACTT	C103092911T	NT5C2	NM_012229.4(NT5C2):c.1159+232_1159+236dup	noncoding	Benign
10	103097448	GA	G	A103097449T	NT5C2	NM_012229.4(NT5C2):c.688-75del	noncoding	Benign
10	103105781	AGT	A	G103105786C	NT5C2	NM_001351176.1(NT5C2):c.-266_-265AC[2]	coding	Pathogenic
10	103350983	A	AGGAGGC	C103350998A	PCGF6	NM_001011663.2(PCGF6):c.72_77GCCTCC[3]:p.Pro27_Pro28dup	coding	Benign
10	104031871	CA	C	A104031872T	COL17A1	NM_000494.4(COL17A1):c.*363del	noncoding	Benign
10	104033952	GCTCT	G	C104033955G	COL17A1	NM_000494.4(COL17A1):c.4143_4144AG[1]:p.Glu1382fs	coding	Pathogenic
10	104034050	CT	C	T104034051G	COL17A1	NM_000494.4(COL17A1):c.4050del:p.Ala1351fs	coding	Pathogenic
10	104034100	CT	C	T104034101G	COL17A1	NM_000494.4(COL17A1):c.4000del:p.Arg1334fs	coding	Pathogenic
10	104034178	CT	C	T104034179G	COL17A1	NM_000494.4(COL17A1):c.3922del:p.Ser1308fs	coding	Pathogenic
10	104055867	GT	G	T104055868C	COL17A1	NM_000494.4(COL17A1):c.1601del:p.Asp534fs	coding	Pathogenic
10	104057110	CGCCACCAACACCGCCACCTCCTCCACT	C	A104057118C	COL17A1	NM_000494.4(COL17A1):c.1303_1329del:p.Ser435_Gly443del	coding	Benign
10	104060265	AC	A	C104060266A	COL17A1	NM_000494.4(COL17A1):c.994del:p.Val332fs	coding	Pathogenic
10	104063805	TG	T	G104063807A	COL17A1	NM_000494.4(COL17A1):c.779del:p.Pro260fs	coding	Pathogenic
10	104147999	CT	C	T104148000G	CFAP43	NM_025145.6(CFAP43):c.3661-2del	noncoding	Pathogenic
10	104194005	G	GA	C104194008A	CFAP43	NM_025145.6(CFAP43):c.1302dup:p.Leu435fs	coding	Pathogenic
10	104196904	AAC	A	C104196908A	CFAP43	NM_025145.6(CFAP43):c.1238_1239GT[1]:p.Val414fs	coding	Pathogenic
10	110581915	C	CTT	A110581920T	SMC3	NM_005445.3(SMC3):c.548-5_548-4dup	noncoding	Benign/Likely_benign
10	110582077	GACT	G	A110582078C	SMC3	NM_005445.3(SMC3):c.703_705del:p.Thr235del	coding	Pathogenic
10	110582548	G	GT	C110582557T	SMC3	NM_005445.3(SMC3):c.724-6dup	noncoding	Benign
10	110583937	GAGAA	G	A110583942G	SMC3	NM_005445.3(SMC3):c.1067_1070AGAA[1]:p.Glu358fs	coding	Pathogenic
10	110584225	GCAGGGTCGAGGAAGC	G	G110584229T	SMC3	NM_005445.4(SMC3):c.1138_1152del:p.Gly380_Gln384del	coding	Pathogenic
10	110589879	TTTTA	T	T110589886A	SMC3	NM_005445.3(SMC3):c.1410-6_1410-3del	noncoding	Benign/Likely_benign
10	110589942	GAGA	G	A110589946T	SMC3	NM_005445.3(SMC3):c.1461_1463AGA[1]:p.Glu488del	coding	Pathogenic
10	110590440	AC	A	C110590441A	SMC3	NM_005445.3(SMC3):c.1539del:p.Asn513fs	coding	Pathogenic
10	110600557	GT	G	T110600574A	SMC3	NM_005445.3(SMC3):c.2535+28del	noncoding	Benign
10	110601015	GTTACAGGAACT	G	T110601017A	SMC3	NM_005445.3(SMC3):c.2536-5_2541del	noncoding	Pathogenic
10	110781825	G	GC	T110781832C	RBM20	NM_001134363.3(RBM20):c.1222dup:p.Leu408fs	coding	Pathogenic
10	110812063	AG	A	G110812064T	RBM20	NM_001134363.3(RBM20):c.1881-214del	noncoding	Benign
10	110823459	GC	TT	G110823459T	RBM20	NM_001134363.3(RBM20):c.3317-21_3317-20delinsTT	noncoding	Benign
10	110985604	AT	A	T110985609A	SHOC2	NM_007373.4(SHOC2):c.704-19del	noncoding	Benign
10	110985731	GC	TT	G110985731T	SHOC2	NM_007373.4(SHOC2):c.807_808delinsTT:p.Gln269_His270delinsHisTyr	coding	Pathogenic
10	111004593	AT	A	T111004601A	SHOC2	NM_007373.3(SHOC2):c.973-5del	noncoding	Benign/Likely_benign
10	111011593	A	AT	A111011604T	SHOC2	NM_007373.3(SHOC2):c.1541-7dup	noncoding	Benign
10	111011593	AT	A	T111011603A	SHOC2	NM_007373.4(SHOC2):c.1541-7del	noncoding	Benign
10	111013304	TG	T	G111013305T	SHOC2	NM_007373.3(SHOC2):c.*1487del	noncoding	Benign
10	112164616	G	GA	C112164624A	GPAM	NM_001244949.2(GPAM):c.1222-13dup	noncoding	Benign
10	113588989	CCTT	C	C113588996T	NRAP;HABP2	NM_004132.5(HABP2):c.*621_*623CTT[2]	coding	Benign/Likely_benign
10	113876789	CAG	C	A113876790G	NHLRC2	NM_198514.4(NHLRC2):c.601_602del:p.Arg201fs	coding	Pathogenic
10	117255594	CAG	C	A117255597T	SLC18A2	NM_003054.4(SLC18A2):c.835_836delAG:p.Gln280Glufs	noncoding	Pathogenic
10	117543426	GGCCGCC	G	C117543440G	EMX2	NM_004098.4(EMX2):c.161_163CCG[4]:p.Ala58_Ala59del	coding	Benign/Likely_benign
10	119030300	C	CCCGCCG	A119030321G	NANOS1	NM_199461.4(NANOS1):c.502_504GCC[8]:p.Ala172_Ala173dup	coding	Benign
10	119030300	CCCG	C	G119030318A	NANOS1	NM_199461.4(NANOS1):c.502_504GCC[5]:p.Ala173del	coding	Pathogenic
10	119146241	CA	C	A119146243T	SFXN4	NM_213649.2(SFXN4):c.930del:p.Ile310fs	coding	Pathogenic
10	119147853	C	CT	A119147855T	SFXN4	NM_213649.2(SFXN4):c.739dup:p.Arg247fs	coding	Pathogenic
10	119162358	AG	A	G119162361C	SFXN4	NM_213649.2(SFXN4):c.233del:p.Pro78fs	coding	Pathogenic
10	119651741	G	GC	G119651748C	BAG3	NM_004281.4(BAG3):c.72dup:p.Gly25fs	coding	Pathogenic
10	119669873	G	GC	T119669877C	BAG3	NM_004281.3(BAG3):c.206dup:p.Ser70fs	coding	Pathogenic
10	119669920	C	CCTGTGTA	C119669929T	BAG3	NM_004281.3(BAG3):c.252_258dup:p.Pro87fs	coding	Pathogenic
10	119669946	C	CT	A119669948T	BAG3	NM_004281.3(BAG3):c.277dup:p.Tyr93fs	coding	Pathogenic
10	119669996	A	AC	T119670000C	BAG3	NM_004281.4(BAG3):c.329dup:p.His112fs	coding	Pathogenic
10	119670135	A	AGCG	A119670147G	BAG3	NM_004281.3(BAG3):c.468_470GGC[4]:p.Ala160dup	coding	Benign/Likely_benign
10	119672353	G	GC	G119672355C	BAG3	NM_004281.3(BAG3):c.607dup:p.Arg203fs	coding	Pathogenic
10	119672396	AC	A	C119672399G	BAG3	NM_004281.3(BAG3):c.652del:p.Arg218fs	coding	Pathogenic
10	119672496	TC	T	C119672498A	BAG3	NM_004281.4(BAG3):c.751del:p.Gln251fs	coding	Pathogenic
10	119672598	G	GCACGC	T119672607G	BAG3	NM_004281.3(BAG3):c.855_859dup:p.Leu287fs	coding	Pathogenic/Likely_pathogenic
10	119672632	GCA	G	A119672636C	BAG3	NM_004281.4(BAG3):c.889_890del:p.Thr297fs	coding	Pathogenic
10	119676526	GC	G	C119676528A	BAG3	NM_004281.4(BAG3):c.974del:p.Pro325fs	coding	Pathogenic
10	119676583	CAA	C	A119676585G	BAG3	NM_004281.4(BAG3):c.1031_1032del:p.Lys344fs	coding	Pathogenic
10	119676586	AGAGGT	A	A119676588G	BAG3	NM_004281.3(BAG3):c.1034_1038del:p.Glu345fs	coding	Pathogenic
10	119676616	GC	G	C119676621A	BAG3	NM_004281.3(BAG3):c.1067del:p.Pro356fs	coding	Pathogenic/Likely_pathogenic
10	119676710	T	TC	A119676716C	BAG3	NM_004281.3(BAG3):c.1161dup:p.Lys388fs	coding	Pathogenic
10	119676819	TGCTGAAAGTG	T	C119676821A	BAG3	NM_004281.3(BAG3):c.1267_1276del:p.Leu423fs	coding	Pathogenic
10	119676844	G	GA	G119676847A	BAG3	NM_004281.3(BAG3):c.1292dup:p.Val432fs	coding	Pathogenic
10	119676850	AC	GT	A119676850G	BAG3	NM_004281.4(BAG3):c.1296_1297inv:p.Gln433Ter	coding	Pathogenic
10	119677519	CTTG	C	G119677525C	BAG3	NM_004281.3(BAG3):c.*243_*245delGTT	noncoding	Benign
10	119677585	CTT	C	T119677588G	BAG3	NM_004281.3(BAG3):c.*306_*307del	noncoding	Benign
10	121488027	ATCT	A	T121488028C	FGFR2	NM_000141.5(FGFR2):c.1947_1949del:p.Arg649_Asp650delinsSer	coding	Pathogenic
10	121488237	T	TA	T121488239A	FGFR2	NM_022970.3(FGFR2):c.1867-125dup	noncoding	Benign
10	121517457	CGGCGGCCTA	GGT	C121517457G	FGFR2	NM_022970.3(FGFR2):c.1087+1216_1087+1225delinsACC	coding	Pathogenic
10	121519996	AGGGCAGCCCGTCGGGCCCGTATTTACTGCCGTTCTTTTCCACGTGCTTGATCCACTGGATGTG	A	A121520001T	FGFR2	NM_000141.5(FGFR2):c.859_921del:p.His287_Pro307del	coding	Pathogenic
10	121520036	CACGTGCTTGATCCACTGG	C	C121520038T	FGFR2	NM_000141.5(FGFR2):c.864_881del:p.Ile288_Val294delinsMet	coding	Pathogenic
10	121520084	GC	AA	G121520084A	FGFR2	NM_000141.5(FGFR2):c.833_834delinsTT:p.Cys278Phe	coding	Pathogenic
10	121520097	ACGT	A	G121520099T	FGFR2	NM_000141.5(FGFR2):c.818_820del:p.Asp273del	coding	Pathogenic
10	121520108	GACCACT	G	A121520109G	FGFR2	NM_000141.5(FGFR2):c.804_809del:p.Val269_Val270del	coding	Pathogenic
10	121520160	GGC	AAG	G121520160A	FGFR2	NM_000141.5(FGFR2):c.756_758delinsCTT:p.Pro253Phe	coding	Pathogenic
10	121520161	GCG	AGA	G121520161A	FGFR2	NM_000141.5(FGFR2):c.755_757delinsTCT:p.Ser252_Pro253delinsPheSer	coding	Pathogenic
10	122461777	AG	A	G122461778C	HTRA1	NM_002775.5(HTRA1):c.126del:p.Glu42fs	coding	Pathogenic
10	122488971	CT	C	T122488972G	HTRA1	NM_002775.5(HTRA1):c.543del:p.Ala182fs	coding	Pathogenic
10	122836358	GAA	G	A122836373G	CUZD1	NM_022034.6(CUZD1):c.818-10_818-9del	noncoding	Benign
10	122836358	GA	G	A122836374G	CUZD1	NM_022034.6(CUZD1):c.818-9del	noncoding	Benign
10	123040536	T	TA	G123040538A	ACADSB	NM_001609.4(ACADSB):c.375dup:p.Glu126fs	coding	Pathogenic
10	123041350	C	CT	G123041352T	ACADSB	NM_001609.4(ACADSB):c.653dup:p.Val219fs	coding	Pathogenic
10	123051188	TAAAAA	T	A123051208G	ACADSB	NM_001609.4(ACADSB):c.1128+22_1128+26del	noncoding	Benign
10	123051188	T	TAAAAAAAAAAAAAAAAAAAAAAGA	A123051211G	ACADSB	NM_001609.4(ACADSB):c.1128+24_1128+25insGAAAAAAAAAAAAAAAAAAAAAAA	noncoding	Benign
10	123051188	T	TAAAAAA	G123051213A	ACADSB	NM_001609.4(ACADSB):c.1128+21_1128+26dup	noncoding	Benign
10	124400920	AG	A	G124400921T	OAT	NM_000274.4(OAT):c.1078del:p.Leu360fs	coding	Pathogenic
10	124403043	CA	C	A124403045T	OAT	NM_000274.4(OAT):c.783del:p.Ile261fs	coding	Pathogenic
10	124405531	TAGC	T	C124405534A	OAT	NM_001322974.2(OAT):c.-51_-49del	coding	Pathogenic
10	124408632	CCACTCCTAT	C	C124408635G	OAT	NM_000274.4(OAT):c.425-4_429del	coding	Pathogenic/Likely_pathogenic
10	124411956	A	ATTAATT	G124411964T	OAT	NM_001171814.1(OAT):c.-215-2997_-215-2992dup	noncoding	Benign
10	124412012	TG	T	G124412013T	OAT	NM_001171814.1(OAT):c.-215-3048del	coding	Pathogenic
10	124412074	G	GT	A124412082T	OAT	NM_000274.4(OAT):c.97dup:p.Thr33fs	coding	Pathogenic
10	124412119	A	ACTCC	G124412124C	OAT	NM_001171814.1(OAT):c.-215-3158_-215-3155dup	coding	Pathogenic
10	125774287	T	TG	T125774293G	MMP21	NM_147191.1(MMP21):c.240dup:p.Lys81fs	coding	Pathogenic
10	125798142	T	TC	T125798147C	UROS	NM_000375.3(UROS):c.395-1dup	coding	Pathogenic
10	129840963	GACTGCTGGGGAGT	G	G129840975C	EBF3	NM_001005463.3(EBF3):c.1402_1414del:p.Thr468fs	coding	Pathogenic
10	129842228	G	GA	T129842229A	EBF3	NM_001375380.1(EBF3):c.1259_1260insT:p.Gln421fs	coding	Pathogenic
10	129867860	A	AC	G129867867C	EBF3	NM_001375380.1(EBF3):c.833dup:p.Ala279fs	coding	Pathogenic
10	129877840	TAGAA	T	A129877845T	EBF3	NM_001375380.1(EBF3):c.556_559TTCT[1]:p.Phe186_Phe187insTer	coding	Pathogenic
10	129958941	T	TGATCTCGTG	G129958952A	EBF3	NM_001005463.3(EBF3):c.469_477dup:p.His157_Ile159dup	coding	Pathogenic
10	129958997	T	TG	A129958998G	EBF3	NM_001005463.3(EBF3):c.421_422insC:p.Tyr141fs	coding	Pathogenic
10	129963365	ACTTT	A	T129963368C	EBF3	NM_001375380.1(EBF3):c.289_291+1del	noncoding	Pathogenic
10	129963368	TTC	T	C129963372T	EBF3	NM_001005463.3(EBF3):c.286_287GA[1]:p.Lys97fs	coding	Pathogenic
10	129963374	TTCTC	T	T129963375C	EBF3	NM_001005463.3(EBF3):c.280_283del:p.Glu94fs	coding	Pathogenic
10	129963413	AC	A	C129963415G	EBF3	NM_001005463.3(EBF3):c.244del:p.Val82fs	coding	Pathogenic
10	129963486	GC	G	C129963487T	EBF3	NM_001005463.3(EBF3):c.171del:p.Gln57fs	coding	Pathogenic
10	129963505	CCG	TCA	C129963505T	EBF3	NM_001005463.3(EBF3):c.151_153delinsTGA:p.Arg51Ter	coding	Pathogenic
10	132785144	C	TA	C132785144T	NKX6-2	NM_177400.3(NKX6-2):c.606delinsTA:p.Lys202fs	coding	Pathogenic
10	133362883	G	GTT	G133362886T	ECHS1	NM_004092.4(ECHS1):c.856_857dup:p.Asn286fs	coding	Pathogenic
10	133369906	CAT	C	T133369908G	ECHS1	NM_004092.4(ECHS1):c.410_411del:p.Tyr137fs	coding	Pathogenic/Likely_pathogenic
10	133370721	CCT	C	C133370724T	ECHS1	NM_004092.4(ECHS1):c.121_122AG[1]:p.Gly42fs	coding	Pathogenic
10	133556051	AG	A	G133556055C	SYCE1	NM_001143764.3(SYCE1):c.529-5del	noncoding	Benign
10	133557074	GTC	G	C133557078G	SYCE1	NM_001143764.3(SYCE1):c.453_454GA[1]:p.Arg152fs	coding	Pathogenic
10	133557853	GA	G	A133557855G	SYCE1	NM_001143764.3(SYCE1):c.374+10del	noncoding	Benign
11	298601	AGCAGCAGTGGCG	A	G298605C	IFITM5	NM_001025295.3(IFITM5):c.287_298del:p.Pro96_Leu99del	coding	Benign
11	533301	TGGGTCCCGGGGGGTCCCAGA	T	G533311A	HRAS	NM_005343.4(HRAS):c.450+132_450+151del	coding	Benign
11	533848	G	GGTCCCGCATGGCGCTGTACTC	C533870G	HRAS	NM_005343.4(HRAS):c.187_207dup:p.Glu63_Asp69dup	coding	Pathogenic
11	533879	GGCGGT	AACATCCAGGAC	G533879A	HRAS	NM_005343.4(HRAS):c.172_177delinsGTCCTGGATGTT:p.Thr58_Ala59delinsValLeuAspVal	coding	Pathogenic
11	534210	A	ACCT	T534215C	HRAS	NM_005343.4(HRAS):c.110_111+1dup	noncoding	Pathogenic
11	534212	C	CTCT	A534216T	HRAS	NM_005343.4(HRAS):c.108_110dup:p.Glu37dup	coding	Pathogenic
11	534287	GC	AG	G534287A	HRAS	NM_005343.4(HRAS):c.35_36delinsCT:p.Gly12Ala	coding	Pathogenic
11	534287	GC	AT	G534287A	HRAS	NM_005343.4(HRAS):c.35_36delinsAT:p.Gly12Asp	coding	Pathogenic
11	534287	GC	TA	G534287T	HRAS	NM_005343.4(HRAS):c.35_36delinsTA:p.Gly12Val	coding	Pathogenic
11	534287	GC	TT	G534287T	HRAS	NM_005343.4(HRAS):c.35_36delinsAA:p.Gly12Glu	coding	Pathogenic/Likely_pathogenic
11	534403	GCCCAGGCCCAGC	G	A534413C	HRAS	NM_005343.4(HRAS):c.-53-40_-53-29del	noncoding	Benign
11	534409	GCCCAGC	G	C534415G	HRAS	NM_005343.4(HRAS):c.-53-40_-53-35del	noncoding	Benign
11	535445	AGGGCCG	A	G535452A	HRAS	NM_005343.4(HRAS):c.-95_-90CGGCCC[1]	noncoding	Benign
11	615010	GA	TT	G615010T	IRF7	NM_001572.5(IRF7):c.184-4_184-3delinsAA	noncoding	Benign
11	637536	GCCGCCGACCTCCT	G	G637539T	DRD4	NM_000797.4(DRD4):c.235_247del:p.Ala79fs	coding	Pathogenic
11	644630	A	AT	A644632T	DEAF1	NM_021008.4(DEAF1):c.1617dup:p.Cys540fs	coding	Pathogenic
11	678761	GC	G	C678763G	DEAF1	NM_021008.4(DEAF1):c.1187del:p.Gly396fs	coding	Pathogenic
11	679708	T	TCG	C679712G	DEAF1	NM_021008.4(DEAF1):c.1104_1105dup:p.Asp369fs	coding	Pathogenic
11	684951	TTA	C	T684951C	DEAF1	NM_021008.4(DEAF1):c.815_817delinsG:p.Leu272_Asn273delinsTer	coding	Pathogenic
11	695012	G	GCC	A695016C	DEAF1	NM_021008.4(DEAF1):c.34_35dup:p.Leu13fs	coding	Pathogenic
11	721320	GC	G	C721322G	EPS8L2	NM_022772.4(EPS8L2):c.738del:p.Val247fs	coding	Pathogenic
11	722116	AC	A	C722120A	EPS8L2	NM_022772.4(EPS8L2):c.1014del:p.Ser339fs	coding	Pathogenic
11	763391	TCTC	T	C763394T	TALDO1	NM_006755.2(TALDO1):c.512_514del:p.Ser171del	coding	Pathogenic
11	763397	T	TC	G763399C	TALDO1	NM_006755.1(TALDO1):c.516dupC	coding	Pathogenic
11	763901	GC	G	C763902A	TALDO1	NM_006755.2(TALDO1):c.793del:p.Gln265fs	coding	Pathogenic
11	792145	GCA	G	C792148G	SLC25A22	NM_001191061.2(SLC25A22):c.811_812TG[1]:p.Ala272fs	coding	Pathogenic
11	792309	CAG	C	A792310G	SLC25A22	NM_001191061.2(SLC25A22):c.735_736del:p.Pro245_Cys246insTer	coding	Pathogenic/Likely_pathogenic
11	794772	TCA	T	C794775T	SLC25A22	NM_001191061.2(SLC25A22):c.146+2_146+3del	noncoding	Pathogenic
11	794968	G	GC	A794971C	SLC25A22	NM_001191061.2(SLC25A22):c.20+17dup	noncoding	Benign
11	795374	CT	C	T795375C	SLC25A22	NM_001191061.2(SLC25A22):c.-163-206del	noncoding	Benign
11	795412	C	CCGCTCACGCTCGGGGCTCA	T795434C	SLC25A22	NM_001191061.2(SLC25A22):c.-163-262_-163-244dup	noncoding	Benign
11	822000	A	ATCCC	A822016C	PNPLA2	NM_020376.4(PNPLA2):c.467_470CTCC[4]:p.Gln160fs	coding	Pathogenic
11	822001	TC	T	C822004T	PNPLA2	NM_020376.4(PNPLA2):c.467del:p.Pro156fs	coding	Pathogenic
11	822451	AC	A	C822453A	PNPLA2	NM_020376.4(PNPLA2):c.543del:p.Ile182fs	coding	Pathogenic
11	822522	G	GC	T822524C	PNPLA2	NM_020376.4(PNPLA2):c.613dup:p.Leu205fs	coding	Pathogenic
11	823728	G	GC	G823735C	PNPLA2	NM_020376.4(PNPLA2):c.798dup:p.Ala267fs	coding	Pathogenic
11	823734	CG	C	G823735C	PNPLA2	NM_020376.4(PNPLA2):c.799del:p.Ala267fs	coding	Pathogenic
11	823739	GC	G	C823744A	PNPLA2	NM_020376.4(PNPLA2):c.808del:p.His270fs	coding	Pathogenic
11	823780	GC	G	C823783A	PNPLA2	NM_020376.4(PNPLA2):c.847del:p.Gln283fs	coding	Pathogenic
11	824119	CT	C	T824121C	PNPLA2	NM_020376.4(PNPLA2):c.1043del:p.Phe348fs	coding	Pathogenic
11	824987	CTGCA	C	T824992C	PNPLA2	NM_020376.4(PNPLA2):c.*126_*129TGCA[1]	noncoding	Benign
11	837278	A	AG	A837281G	CD151	NM_004357.5(CD151):c.382dup:p.Asp128fs	coding	Pathogenic
11	1018167	ATCG	A	C1018169G	MUC6	NM_005961.3(MUC6):c.4631_4633del:p.Thr1544del	coding	Benign
11	1233859	CCCCTG	C	T1233878C	MUC5B	NM_002458.3(MUC5B):c.2377+12CCCTG[3]	noncoding	Benign
11	1754150	CAG	C	A1754151G	CTSD	NM_001909.5(CTSD):c.828-14_828-13del	noncoding	Benign
11	1754968	G	GT	A1754970T	CTSD	NM_001909.5(CTSD):c.764dup:p.Tyr255Ter	coding	Pathogenic
11	1759599	T	TG	C1759607G	CTSD	NM_001909.5(CTSD):c.268dup:p.Gln90fs	coding	Pathogenic
11	1841497	CGAG	C	G1841501A	TNNI2	NM_003282.4(TNNI2):c.496_498GAG[1]:p.Glu167del	coding	Pathogenic
11	1929825	CCAAGTGAGTGTGGGGTCCTGGCAGGCCCGCTGCTGAGTGTGTTCTGGGGTGGGGGTGGT	C	G1929854A	TNNT3	NM_006757.4(TNNT3):c.125+26_125+84del	coding	Benign
11	2133627	TG	T	G2133628C	IGF2	NM_000612.6(IGF2):c.195del:p.Ile66fs	coding	Pathogenic
11	2135365	A	ACG	T2135367G	IGF2	NM_000612.6(IGF2):c.157+1_157+2insGC	noncoding	Pathogenic
11	2135407	GTCCACCA	TTACCT	G2135407T	IGF2	NM_000612.6(IGF2):c.110_117delinsAGGTAA:p.Leu37fs	coding	Pathogenic
11	2161163	C	CGCAA	A2161164G	INS;TH;INS-IGF2	NM_000207.3(INS):c.-18+4_-18+5insTTGC	noncoding	Benign/Likely_benign
11	2161296	TG	T	G2161300T	INS	NM_000207.2(INS):c.-147del	noncoding	Benign
11	2161313	CAGATGGCTGGGGGCTGAGGCTGCA	C	G2161315T	INS	NM_000207.2(INS):c.-187_-164del	noncoding	Pathogenic
11	2166481	TGCGAGAACTGC	T	G2166486A	TH	NM_000360.4(TH):c.1035_1045del:p.Gln346fs	coding	Pathogenic/Likely_pathogenic
11	2166536	CG	C	G2166537T	TH	NM_000360.4(TH):c.990del:p.His330fs	coding	Pathogenic
11	2169678	GC	G	C2169680G	TH	NM_000360.4(TH):c.283del:p.Ala95fs	coding	Pathogenic
11	2169758	CA	C	A2169759G	TH	NM_000360.4(TH):c.203del:p.Leu68fs	coding	Pathogenic/Likely_pathogenic
11	2171708	CT	C	T2171709G	TH	NM_000360.4(TH):c.78del:p.Glu27fs	coding	Pathogenic
11	2445259	TCGCGCCCGGCGCCCCAGGTCCCG	T	G2445263C	KCNQ1	NM_000218.2(KCNQ1):c.165_187del:p.Gly57fs	coding	Pathogenic
11	2445270	GC	G	C2445274A	KCNQ1	NM_000218.3(KCNQ1):c.176del:p.Pro59fs	coding	Pathogenic
11	2445294	TCCCCGGCCGCG	T	C2445298G	KCNQ1	NM_000218.2(KCNQ1):c.200_210del:p.Pro67fs	coding	Pathogenic
11	2445294	TC	T	C2445298G	KCNQ1	NM_000218.2(KCNQ1):c.200del:p.Pro67fs	coding	Pathogenic
11	2445461	A	AT	G2445463T	KCNQ1	NM_000218.2(KCNQ1):c.364dup:p.Cys122fs	coding	Pathogenic
11	2445478	T	TCG	C2445482G	KCNQ1	NM_000218.2(KCNQ1):c.382_383dup:p.Val129fs	coding	Pathogenic
11	2527965	CT	C	T2527966G	KCNQ1	NM_181798.1(KCNQ1):c.44del:p.Leu15fs	coding	Pathogenic/Likely_pathogenic
11	2527983	TA	T	A2527984T	KCNQ1	NM_181798.1(KCNQ1):c.62del:p.Tyr21fs	coding	Pathogenic
11	2527991	CCT	C	C2527992G	KCNQ1	NM_181798.1(KCNQ1):c.70_71del:p.Leu24fs	coding	Pathogenic
11	2528004	ACT	A	C2528009T	KCNQ1	NM_181798.1(KCNQ1):c.83_84CT[2]:p.Phe30fs	coding	Pathogenic/Likely_pathogenic
11	2570329	C	CCCTCTGGCCAAGGCTGGGGTTCCTGGTGTGGGGCCT	T2570375A	KCNQ1	NM_181798.1(KCNQ1):c.97-289_97-254dup	noncoding	Benign
11	2570637	CT	C	T2570638G	KCNQ1	NM_000218.3(KCNQ1):c.488del:p.Leu163fs	coding	Pathogenic/Likely_pathogenic
11	2570651	CG	C	G2570654A	KCNQ1	NM_181798.1(KCNQ1):c.123del:p.Thr42fs	coding	Pathogenic
11	2570659	AG	A	G2570660T	KCNQ1	NM_181798.1(KCNQ1):c.129del:p.Glu43fs	coding	Pathogenic
11	2570662	AC	A	C2570663G	KCNQ1	NM_000218.3(KCNQ1):c.513del:p.Glu170_Tyr171insTer	coding	Pathogenic
11	2570664	G	GTGGTCCGCCTC	G2570685T	KCNQ1	NM_181798.1(KCNQ1):c.143_153dup:p.Gly52fs	coding	Pathogenic/Likely_pathogenic
11	2570664	GTGGTCCGCCTC	G	T2570674G	KCNQ1	NM_181798.1(KCNQ1):c.143_153del:p.Leu48fs	coding	Pathogenic
11	2570683	C	GG	C2570683G	KCNQ1	NM_181798.1(KCNQ1):c.152delinsGG:p.Ala51fs	coding	Pathogenic
11	2570700	T	TA	C2570702A	KCNQ1	NM_181798.1(KCNQ1):c.170dup:p.Tyr57Ter	coding	Pathogenic
11	2570711	CT	C	T2570712G	KCNQ1	NM_181798.1(KCNQ1):c.181del:p.Trp61fs	coding	Pathogenic
11	2570712	TGG	T	G2570716C	KCNQ1	NM_000218.3(KCNQ1):c.566_567del:p.Gly189fs	coding	Pathogenic
11	2570712	T	TG	C2570718G	KCNQ1	NM_181798.1(KCNQ1):c.186dup:p.Arg63fs	coding	Pathogenic
11	2570717	GCGGCTGCGCTTTGC	G	G2570719C	KCNQ1	NM_181798.1(KCNQ1):c.188_201del:p.Arg63fs	coding	Pathogenic
11	2570719	GGCTGC	G	G2570723T	KCNQ1	NM_000218.3(KCNQ1):c.573_577del:p.Arg192fs	coding	Pathogenic
11	2570733	CG	C	G2570735A	KCNQ1	NM_181798.1(KCNQ1):c.204del:p.Lys69fs	coding	Pathogenic
11	2570748	ATCATCGGTGAG	A	C2570753G	KCNQ1	NM_000218.3(KCNQ1):c.603_604+9del	coding	Pathogenic/Likely_pathogenic
11	2571373	A	AG	C2571378G	KCNQ1	NM_181798.1(KCNQ1):c.276dup:p.Gln93fs	coding	Pathogenic
11	2572033	TC	T	C2572035T	KCNQ1	NM_000218.3(KCNQ1):c.706del:p.Ile235_Leu236insTer	coding	Pathogenic
11	2572060	AGG	A	G2572062A	KCNQ1	NM_181798.1(KCNQ1):c.352_353del:p.Gly118fs	coding	Pathogenic
11	2572061	GGGAGGCACCT	G	A2572068T	KCNQ1	NM_181798.1(KCNQ1):c.358_367del:p.Thr120fs	coding	Pathogenic
11	2572068	ACCTGGAGGCT	A	A2572074G	KCNQ1	NM_181798.1(KCNQ1):c.364_373del:p.Arg122fs	coding	Pathogenic
11	2572826	CTG	C	G2572832T	KCNQ1	NM_181798.1(KCNQ1):c.400-19TG[2]	noncoding	Benign/Likely_benign
11	2572846	GA	TT	G2572846T	KCNQ1	NM_181798.1(KCNQ1):c.400_401delinsTT:p.Glu134Leu	coding	Pathogenic
11	2572858	AC	A	C2572861T	KCNQ1	NM_181798.1(KCNQ1):c.415del:p.Leu139fs	coding	Pathogenic
11	2572885	ATCT	A	T2572889C	KCNQ1	NM_181798.1(KCNQ1):c.440_442TCT[1]:p.Phe148del	coding	Pathogenic
11	2572889	TCTC	T	C2572893G	KCNQ1	NM_000218.2(KCNQ1):c.825_827CTC[1]:p.Ser277del	coding	Pathogenic
11	2572922	ACGCGGTGAACGAGTCAGGC	A	G2572927T	KCNQ1	NM_181798.1(KCNQ1):c.481_499del:p.Val161fs	coding	Pathogenic
11	2572981	GGGGTGGTAAGTC	G	G2572984A	KCNQ1	NM_181798.1(KCNQ1):c.538_540+9del	coding	Pathogenic/Likely_pathogenic
11	2583507	TTC	T	C2583511G	KCNQ1	NM_181798.1(KCNQ1):c.615_616CT[1]:p.Ser206fs	coding	Pathogenic
11	2583519	GC	G	C2583521A	KCNQ1	NM_181798.1(KCNQ1):c.627del:p.Ile210fs	coding	Pathogenic
11	2583526	CCTT	C	C2583530T	KCNQ1	NM_181798.1(KCNQ1):c.633_635CTT[1]:p.Phe213del	coding	Pathogenic
11	2583530	CTTT	C	T2583531G	KCNQ1	NM_181798.1(KCNQ1):c.637_639del:p.Phe213del	coding	Pathogenic
11	2585222	GCTCGGGGTTTG	CA	G2585222C	KCNQ1	NM_000218.3(KCNQ1):c.1043_1054delinsCA:p.Gly348fs	coding	Pathogenic
11	2585299	CTCAT	C	T2585303G	KCNQ1	NM_181798.1(KCNQ1):c.743_746del:p.Ile248fs	coding	Pathogenic
11	2587636	G	GC	G2587643C	KCNQ1	NM_181798.1(KCNQ1):c.820dup:p.Arg274fs	coding	Pathogenic
11	2587646	GC	G	C2587648A	KCNQ1	NM_000218.3(KCNQ1):c.1207del:p.His403fs	coding	Pathogenic
11	2587671	CA	C	A2587674C	KCNQ1	NM_000218.3(KCNQ1):c.1233del:p.Lys411fs	coding	Pathogenic
11	2588717	AG	A	G2588718A	KCNQ1	NM_181798.1(KCNQ1):c.876del:p.Lys295fs	coding	Pathogenic
11	2588718	GAAAA	G	A2588723G	KCNQ1	NM_000218.3(KCNQ1):c.1262_1265del:p.Lys421fs	coding	Pathogenic
11	2588718	GA	G	A2588726G	KCNQ1	NM_181798.1(KCNQ1):c.884del:p.Lys295fs	coding	Pathogenic/Likely_pathogenic
11	2588748	T	TG	T2588753G	KCNQ1	NM_181798.1(KCNQ1):c.910dup:p.Val304fs	coding	Pathogenic
11	2588785	CA	C	A2588786T	KCNQ1	NM_181798.1(KCNQ1):c.944del:p.His315fs	coding	Pathogenic
11	2588790	CA	C	A2588791C	KCNQ1	NM_000218.3(KCNQ1):c.1330del:p.Thr444fs	coding	Pathogenic
11	2588798	A	AC	A2588805C	KCNQ1	NM_181798.1(KCNQ1):c.962dup:p.Glu322fs	coding	Pathogenic
11	2588798	AC	A	C2588804A	KCNQ1	NM_181798.1(KCNQ1):c.962del:p.Pro321fs	coding	Pathogenic
11	2588815	CG	C	G2588817C	KCNQ1	NM_000218.3(KCNQ1):c.1356del:p.Leu453fs	coding	Pathogenic
11	2661990	AGCAT	A	A2661993C	KCNQ1	NM_181798.1(KCNQ1):c.1045_1048del:p.Met349fs	coding	Pathogenic
11	2662006	T	TGAGAACCAACAGCTTCGCC	G2662029A	KCNQ1	NM_000218.3(KCNQ1):c.1443_1461dup:p.Asp488fs	coding	Pathogenic
11	2662011	AC	A	C2662013A	KCNQ1	NM_181798.1(KCNQ1):c.1065del:p.Asn356fs	coding	Pathogenic
11	2662043	A	AG	A2662048G	KCNQ1	NM_181798.1(KCNQ1):c.1099dup:p.Glu367fs	coding	Pathogenic
11	2662050	ACT	A	C2662053G	KCNQ1	NM_181798.1(KCNQ1):c.1103_1104CT[1]:p.Leu369fs	coding	Pathogenic
11	2662077	TCA	T	C2662080G	KCNQ1	NM_181798.1(KCNQ1):c.1130_1131CA[1]:p.Gln378fs	coding	Pathogenic
11	2768860	CG	C	G2768863C	KCNQ1	NM_181798.1(KCNQ1):c.1153del:p.Ala385fs	coding	Pathogenic
11	2768869	ATTAAGGTCAT	A	T2768871C	KCNQ1	NM_000218.3(KCNQ1):c.1542_1551del:p.Lys515fs	coding	Pathogenic
11	2775977	C	CGATGT	C2775984A	KCNQ1	NM_181798.1(KCNQ1):c.1229_1233dup:p.Arg412fs	coding	Pathogenic
11	2775999	CAGTAC	GTTGAGA	C2775999G	KCNQ1	NM_000218.2(KCNQ1):c.1630_1635delCAGTACinsGTTGAGA:p.Gln544Valfs	coding	Pathogenic
11	2776984	AG	A	G2776986C	KCNQ1	NM_000218.2(KCNQ1):c.1686delG	noncoding	Pathogenic/Likely_pathogenic
11	2777034	TG	T	G2777037T	KCNQ1	NM_000218.3(KCNQ1):c.1732+5del	noncoding	Pathogenic
11	2778025	AG	A	G2778026T	KCNQ1	NM_181798.1(KCNQ1):c.1402del:p.Arg467_Val468insTer	coding	Pathogenic
11	2847780	A	AC	A2847783C	KCNQ1	NM_000218.3(KCNQ1):c.1810dup:p.Gln604fs	coding	Pathogenic/Likely_pathogenic
11	2847811	TCAC	T	C2847814G	KCNQ1	NM_181798.1(KCNQ1):c.1461_1463del:p.His487del	coding	Pathogenic
11	2847858	GC	G	C2847865A	KCNQ1	NM_181798.1(KCNQ1):c.1512del:p.Arg505fs	coding	Pathogenic/Likely_pathogenic
11	2847862	CCCCAGAGAGGGCGGGGCCCA	C	C2847864A	KCNQ1	NM_181798.1(KCNQ1):c.1511_1530del:p.Pro504fs	coding	Pathogenic
11	2847993	A	AG	T2847998G	KCNQ1	NM_181798.1(KCNQ1):c.1644dup:p.Ser549fs	coding	Pathogenic
11	2883974	G	GC	A2883982C	CDKN1C	NM_001122630.2(CDKN1C):c.*5+18dup	noncoding	Benign
11	2884800	CT	C	T2884801G	CDKN1C	NM_001122630.2(CDKN1C):c.656del:p.Gln219fs	coding	Pathogenic
11	2884805	TCGCGCCCTGCTCGGC	GGG	T2884805G	CDKN1C	NM_001122630.2(CDKN1C):c.637_652delinsCCC:p.Ala213fs	coding	Pathogenic
11	2884840	TCCGGGGCCGGGGCCGGGGCGGGGG	T	G2884860C	CDKN1C	NM_001122630.2(CDKN1C):c.593_616del:p.186_187AP[6]	coding	Benign
11	2884842	CG	C	G2884846C	CDKN1C	NM_001122630.2(CDKN1C):c.614del:p.Pro205fs	coding	Pathogenic
11	2884846	GCCG	CCC	G2884846C	CDKN1C	NM_001122630.2(CDKN1C):c.608_611delinsGGG:p.Pro203fs	coding	Pathogenic
11	2884847	CCGGGGCCGGGG	C	C2884853G	CDKN1C	NM_001122630.2(CDKN1C):c.599_609del:p.Ala200fs	coding	Pathogenic
11	2884854	C	CGGGGCGGGGGCCGGGGCCGGGGCCG	C2884883G	CDKN1C	NM_001122630.2(CDKN1C):c.578_602dup:p.Ala202fs	coding	Pathogenic
11	2884854	CG	C	G2884858C	CDKN1C	NM_001122630.2(CDKN1C):c.602del:p.Pro201fs	coding	Pathogenic
11	2884858	G	GCGGGGGCCGGGGCCGGGGCCGGGGC	C2884889G	CDKN1C	NM_001122630.2(CDKN1C):c.574_598dup:p.Ala200fs	coding	Pathogenic
11	2884859	C	TT	C2884859T	CDKN1C	NM_001122630.2(CDKN1C):c.598delinsAA:p.Ala200fs	coding	Pathogenic
11	2884860	GGGGGCC	G	C2884884T	CDKN1C	NM_001122630.2(CDKN1C):c.573_578GGCCCC[3]:p.186_187AP[9]	coding	Benign/Likely_benign
11	2884860	GGGGGCCGGGGCC	G	C2884878T	CDKN1C	NM_001122630.2(CDKN1C):c.573_578GGCCCC[2]:p.186_187AP[8]	coding	Benign
11	2884860	G	GGGGGCCGGAGC	G2884869A	CDKN1C	NM_001122630.2(CDKN1C):c.596_597insGCTCCGGCCCC:p.Ala200fs	coding	Pathogenic
11	2884866	CGGGGCCGGGGCCGGGGCCGGGGCT	C	G2884880C	CDKN1C	NM_001122630.2(CDKN1C):c.567_590del:p.186_187AP[6]	coding	Benign
11	2884872	CGGGGCCGGGGCCGGGGCT	C	G2884886C	CDKN1C	NM_001122630.2(CDKN1C):c.567_584del:p.186_187AP[7]	coding	Benign
11	2884878	C	CGGGGCCGGGGCT	C2884902T	CDKN1C	NM_001122630.2(CDKN1C):c.567_578dup:p.186_187AP[12]	coding	Benign
11	2884878	CGGGGCCGGGGCT	C	T2884890C	CDKN1C	NM_001122630.2(CDKN1C):c.567_578del:p.186_187AP[8]	coding	Benign/Likely_benign
11	2884884	CGGGGCT	C	T2884890C	CDKN1C	NM_001122630.2(CDKN1C):c.567_572del:p.186_187AP[9]	coding	Benign/Likely_benign
11	2884910	GA	G	A2884911G	CDKN1C	NM_001122630.2(CDKN1C):c.546del:p.Pro183fs	coding	Pathogenic
11	2884935	AGCCGGG	A	G2884951A	CDKN1C	NM_001122630.2(CDKN1C):c.504_509CCCGGC[2]:p.168_169AP[7]	coding	Benign/Likely_benign
11	2884966	ACCGCGACCGGAG	A	C2884994G	CDKN1C	NM_001122630.2(CDKN1C):c.455_466CTCCGGTCGCGG[2]:p.152_155APVA[2]	coding	Benign
11	2885036	GGACT	G	A2885038G	CDKN1C	NM_001122630.2(CDKN1C):c.417_420del:p.Val140fs	coding	Pathogenic
11	2885040	TG	T	G2885045C	CDKN1C	NM_001362475.2(CDKN1C):c.255+161del	coding	Pathogenic
11	2885058	CG	C	G2885062C	CDKN1C	NM_001122630.2(CDKN1C):c.398del:p.Pro133fs	coding	Pathogenic
11	2885089	T	TC	G2885092C	CDKN1C	NM_001122630.2(CDKN1C):c.367dup:p.Glu123fs	coding	Pathogenic
11	2885098	TCCTCGAGG	T	T2885101G	CDKN1C	NM_001122630.2(CDKN1C):c.351_358del:p.Leu118fs	coding	Pathogenic
11	2885102	CG	C	G2885103A	CDKN1C	NM_001122630.2(CDKN1C):c.354del:p.Glu119fs	coding	Pathogenic
11	2885156	C	CG	A2885158G	CDKN1C	NM_001122630.2(CDKN1C):c.300dup:p.Ala101fs	coding	Pathogenic
11	2885157	GACCGCGACGGGCCGCGG	C	G2885157C	CDKN1C	NM_001122630.2(CDKN1C):c.283_300delinsG:p.Pro95fs	coding	Pathogenic
11	2885178	C	CTGCT	A2885179T	CDKN1C	NM_001122630.2(CDKN1C):c.278_279insAGCA:p.Pro95fs	coding	Pathogenic
11	2885179	AG	C	A2885179C	CDKN1C	NM_001122630.2(CDKN1C):c.277_278delinsG:p.Leu93fs	coding	Pathogenic
11	2885293	TG	T	G2885295A	CDKN1C	NM_001122630.2(CDKN1C):c.163del:p.Gln55fs	coding	Pathogenic
11	2885300	C	CCCAGCTGGAA	G2885301C	CDKN1C	NM_001122630.2(CDKN1C):c.156_157insTTCCAGCTGG:p.Asp53fs	coding	Pathogenic
11	2885381	CCG	C	C2885382G	CDKN1C	NM_001122630.2(CDKN1C):c.74_75del:p.Pro25fs	coding	Pathogenic
11	2885389	A	ACTC	A2885390C	CDKN1C	NM_001122630.2(CDKN1C):c.67_68insGAG:p.Phe23Ter	coding	Pathogenic
11	2909364	CG	C	G2909370A	SLC22A18	NM_002555.6(SLC22A18):c.403+14del	noncoding	Benign
11	3002020	T	TG	A3002027G	CARS1	NM_001014437.3(CARS1):c.2310dup:p.Ser771fs	coding	Pathogenic
11	3735329	TA	T	A3735342G	NUP98	NM_016320.5(NUP98):c.1409-6del	noncoding	Benign
11	4023982	C	CA	G4023984A	STIM1	NM_003156.3(STIM1):c.381dup:p.Glu128fs	coding	Pathogenic
11	4070111	GAACCGTTA	G	A4070112C	STIM1	NM_003156.3(STIM1):c.700_707del:p.Asn234fs	coding	Pathogenic
11	4083474	AT	A	T4083476G	STIM1	NM_003156.3(STIM1):c.1452del:p.Ile484fs	coding	Pathogenic
11	4368174	AG	A	G4368177C	OR52B4	NM_001005161.3(OR52B4):c.121del:p.Leu41fs	coding	Benign
11	4769643	CG	C	G4769644T	OR51F1	NM_001004752.2(OR51F1):c.295del:p.Arg99fs	coding	Benign
11	5225158	GTAGTGAAAAGACATTCATGAGGACAGCTAAAACAATAAGTAATGTAAAATACAGCATAGCAAAACTTTAACCTCCAAATCAAGCCTCTACTTGAATCCTTTTCTGAGGGATGAATAAGGCATATGCATCAGGGGCTGTTGCCAATGTGCATTAGCTGTTTGCAGCCTCACCTTCTTTCATGGAGTTTAAGATATAGTGTATTTTCCCAAGGTTTGAACTAGCTCTTCATTTCTTTATGTTTTAAATGCACTGACCTCCCACATTCCCTTTTTAGTAAAATATTCAGAAATAATTTAAATACATCATTGCAATGAAAATAAATGTTTTTTATTAGGCAGAATCCAGATGCTCAAGGCCCTTCATAATATCCCCCAGTTTAGTAGTTGGACTTAGGGAACAAAGGAACCTTTAATAGAAATTGGACAGCAAGAAAGCGAGCTTAGTGATACTTGTGGGCCAGGGCATTAGCCACACCAGCCACCACTTTCTGATAGGCAGCCTGCACTGGTGGGGTGAATTCTTTGCCAAAGTGATGGGCCAGCACACAGACCAGCACGTTGCCCAGGAGCTGTGGGAGGAAGATAAGAGGTATGAACATGATTAGCAAAAGGGCCTAGCTTGGACTCAGAATAATCCAGCCTTATCCCAACCATAAAATAAAAGCAGAATGGTAGCTGGATTGTAGCTGCTATTAGCAATATGAAACCTCTTACATCAGTTACAATTTATATGCAGAAATATTTATATGCAGAGATATTGCTATTGCCTTAACCCAGAAATTATCACTGTTATTCTTTAGAATGGTGCAAAGAGGCATGATACATTGTATCATTATTGCCCTGAAAGAAAGAGATTAGGGAAAGTATTAGAAATAAGATAAACAAAAAAGTATATTAAAAGAAGAAAGCATTTTTTAAAATTACAAATGCAAAATTACCCTGATTTGGTCAATATGTGTACACATATTAAAACATTACACTTTAACCCATAAATATGTATAATGATTATGTATCAATTAAAAATAAAAGAAAATAAAGTAGGGAGATTATGAATATGCAAATAAGCACACATATATTCCAAATAGTAATGTACTAGGCAGACTGTGTAAAGTTTTTTTTTAAGTTACTTAATGTATCTCAGAGATATTTCCTTTTGTTATACACAATGTTAAGGCATTAAGTATAATAGTAAAAATTGCGGAGAAGAAAAAAAAAGAAAGCAAGAATTAAACAAAAGAAAACAATTGTTATGAACAGCAAATAAAAGAAACTAAAACGATCCTGAGACTTCCACACTGATGCAATCATTCGTCTGTTTCCCATTCTAAACTGTACCCTGTTACTTATCCCCTTCCTATGACATGAACTTAACCATAGAAAAGAAGGGGAAAGAAAACATCAAGCGTCCCATAGACTCACCCTGAAGTTCTCAGGATCCACGTGCAGCTTGTCACAGTGCAGCTCACTCAGTGTGGCAAAGGTGCCCTTGAGGTTGTCCAGGTGAGCCAGGCCATCACTAAAGGCACCGAGCACTTTCTTGCCATGAGCCTTCACCTTAGGGTTGCCCATAACAGCATCAGGAGTGGACAGATCCCCAAAGGACTCAAAGAACCTCTGGGTCCAAGGGTAGACCACCAGCAGCCTAAGGGTGGGAAAATAGACCAATAGGCAGAGAGAGTCAGTGCCTATCAGAAACCCAAGAGTCTTCTCTGTCTCCACATGCCCAGTTTCTATTGGTCTCCTTAAACCTGTCTTGTAACCTTGATACCAACCTGCCCAGGGCCTCACCACCAACTTCATCCACGTTCACCTTGCCCCACAGGGCAGTAACGGCAGACTTCTCCTCAGGAGTCAGATGCACCATGGTGTCTGTTTGAGGTTGCTAGTGAACACAGTTGTGTCAGAAGCAAATGTAAGCAATAGATGGCTCTGCCCTGACTTTTATGCCCAGCCCTGGCTCCTGCCCTCCCTGCTCCTGGGAGTAGATTGGCCAACCCTAGGGTGTGGCTCCACAGGGTGAGGTCTAAGTGATGACAGCCGTA	CTTAT	G5225158C	HBB	NC_000011.10:g.5225158_5227199del2042insCTTAT	noncoding	Pathogenic
11	5225256	CTTTTCTGAGGGATGAATAAGGCATATGCATCAGGGGCTGTTGCCAATGTGCATTAGCTGTTTGCAGCCTCACCTTCTTTCATGGAGTTTAAGATATAGTGTATTTTCCCAAGGTTTGAACTAGCTCTTCATTTCTTTATGTTTTAAATGCACTGACCTCCCACATTCCCTTTTTAGTAAAATATTCAGAAATAATTTAAATACATCATTGCAATGAAAATAAATGTTTTTTATTAGGCAGAATCCAGATGCTCAAGGCCCTTCATAATATCCCCCAGTTTAGTAGTTGGACTTAGGGAACAAAGGAACCTTTAATAGAAATTGGACAGCAAGAAAGCGAGCTTAGTGATACTTGTGGGCCAGGGCATTAGCCACACCAGCCACCACTTTCTGATAGGCAGCCTGCACTGGTGGGGTGAATTCTTTGCCAAAGTGATGGGCCAGCACACAGACCAGCACGTTGCCCAGGAGCTGTGGGAGGAAGATAAGAGGTATGAACATGATTAGCAAAAGGGCCTAGCTTGGACTCAGAATAATCCAGCCTTATCCCAACCATAAAATAAAAGCAGAATGGTAGCTGGATTGTAGCTGCTATTAGCAATATGAAACCTCTTACATCA	TCTACTT	C5225256T	HBB	NC_000011.9:g.5246486_5247105delinsTCTACTT	noncoding	Pathogenic
11	5225388	TTCTTTATGTTTTAAATGCACTGACCTCCCACATTCCCTTTTTAGTAAAATATTCAGAAATAATTTAAATACATCATTGCAATGAAAATAAATGTTTTTTATTAGGCAGAATCCAGATGCTCAAGGCCCTTCATAATATCCCCCAGTTTAGTAGTTGGACTTAGGGAACAAAGGAACCTTTAATAGAAATTGGACAGCAAGAAAGCGAGCTTAGTGATACTTGTGGGCCAGGGCATTAGCCACACCAGCCACCACTTTCTGATAGGCAGCCTGCACTGGTGGGGTGAATTCTTTGCCAAAGTGATGGGCCAGCACACAGACCAGCACGTTGCCCAGGAGCTGTGGGAGGAAGATAAGAGGTATGAACATGATTAGCAAAAGGGCCTAGCTTGGACTCAGAATAATCCAGCCTTATCCCAACCATAAAATAAAAGCAGAATGGTAGCTGGATTGTAGCTGCTATTAGCAATATGAAACCTCTTACATCAGTTACAATTTATATGCAGAAATATTTATATGCAGAGATATTGCTATTGCCTTAACCCAGAAATTATCACTGTTATTCTTTAGAATGGTGCAAAGAGGCATGATACATTGTATCATTATTGCCCTGAAAGAAA	T	T5225389G	HBB	NG_000007.3(HBB):g.71609_72227del	noncoding	Pathogenic
11	5225465	TGCAATGAAAATAAATGTTTTTTATTAGGCAGAATCCAGATGCTCAAGGCCCTTCATAATATCCCCCAGTTTAGTAGTTGGACTTAGGGAACAAAGGAACCTTTAATAGAAATTGGACAGCAAGAAAGCGAGCTTAGTGATACTTGTGGGCCAGGGCATTAGCCACACCAGCCACCACTTTCTGATAGGCAGCCTGCACTGGTGGGGTGAATTCTTTGCCAAAGTGATGGGCCAGCACACAGACCAGCACGTTGCCCAGGAGCTGTGGGAGGAAGATAAGAGGTATGAACATGATTAGCAAAAGGGCCTAGCTTGGACTCAGAATAATCCAGCCTTATCCCAACCATAAAATAAAAGCAGAATGGTAGCTGGATTGTAGCTGCTATTAGCAATATGAAACCTCTTACATCA	T	C5225467T	HBB	NM_000518.5(HBB):c.316-149_*132del	noncoding	Pathogenic
11	5225465	TGCAATGAAAATAAATGTTTTTTATTAGGCAGAATCCAGATGCTCAAGGCCCTTCATAATATCCCCCAGTTTAGTAGTTGGACTTAGGGAACAAAGGAACCTTTAATAGAAATTGGACAGCAAGAAAGCGAGCTTAGTGATACTTGTGGGCCAGGGCATTAGCCACACCAGCCACCACTTTCTGATAGGCAGCCTGCACTGGTGGGGTGAATTCTTTGCCAAAGTGATGGGCCAGCACACAGACCAGCACGTTGCCCAGGAG	T	G5225466C	HBB	NM_000518.5(HBB):c.316_*132del:p.Leu106_Ter148del	noncoding	Pathogenic
11	5225481	GTT	G	T5225486A	HBB	NM_000518.5(HBB):c.*115_*116del	noncoding	Pathogenic
11	5225483	TTTTTA	T	T5225486A	HBB	NM_000518.5(HBB):c.*110_*114del	noncoding	Pathogenic
11	5225492	GGCAGAATCCAGAT	G	A5225495T	HBB	NM_000518.5(HBB):c.*93_*105del	noncoding	Pathogenic
11	5225600	A	AGT	A5225604T	HBB	NM_000518.5(HBB):c.440_441dup:p.Ter148ThrextTer?	coding	Pathogenic
11	5225611	TGG	T	G5225613C	HBB	NM_000518.5(HBB):c.429_430del:p.His144fs	coding	Pathogenic
11	5225624	T	TA	G5225626A	HBB	NM_000518.5(HBB):c.417dup:p.Asn140Ter	coding	Pathogenic
11	5225646	C	CT	G5225648T	HBB	NM_000518.5(HBB):c.395dup:p.Lys133fs	coding	Pathogenic
11	5225654	CAGC	TGTGG	C5225654T	HBB	NM_000518.5(HBB):c.385_388delinsCCACA:p.Ala129fs	coding	Pathogenic
11	5225656	GCCT	G	C5225657G	HBB	NM_000518.5(HBB):c.383_385del:p.Gln128_Ala129delinsPro	coding	Pathogenic
11	5225663	CT	C	T5225664G	HBB	NM_000518.5(HBB):c.378del:p.Val127fs	coding	Pathogenic
11	5225663	CTGGTGGGG	C	G5225666A	HBB	NM_000518.5(HBB):c.371_378del:p.Thr124fs	coding	Pathogenic
11	5225666	G	GT	G5225668T	HBB	NM_000518.5(HBB):c.375dup:p.Pro126fs	coding	Pathogenic
11	5225687	AG	A	G5225688T	HBB	NM_000518.5(HBB):c.354del:p.Phe119fs	coding	Pathogenic
11	5225692	T	TATCA	G5225693A	HBB	NM_000518.5(HBB):c.349_350insTGAT:p.His117fs	coding	Pathogenic
11	5225696	C	CCAGCACA	A5225707C	HBB	NM_000518.5(HBB):c.339_345dup:p.Ala116fs	coding	Pathogenic
11	5225698	AG	C	A5225698C	HBB	NM_000518.5(HBB):c.343_344delinsG:p.Leu115fs	coding	Pathogenic
11	5225713	AC	A	C5225714G	HBB	NM_000518.5(HBB):c.328del:p.Val110fs	coding	Pathogenic
11	5225718	G	GC	A5225722C	HBB	NM_000518.5(HBB):c.323dup:p.Asn109fs	coding	Pathogenic/Likely_pathogenic
11	5225726	GC	G	C5225727T	HBB	NM_000518.5(HBB):c.316-1del	coding	Pathogenic
11	5225811	T	TAAAATAAAAGCAG	T5225827A	HBB	NM_000518.5(HBB):c.316-98_316-86dup	noncoding	Pathogenic
11	5225895	AATATTTATATGCAGAGATATTGCTATTGCCTTAACCCAGAAATTATCACTGTTATTCTTTAGAATGGTGCAAAGAGGCATGATACATTGTATCATTATTGCCCTGAAAGAAAGAGATTAGGGAAAGTATTAGAAATAAGATAAACAAAAAAGTATATTAAAAGAAGAAAGCATTTTTTAAAATTACAAATGCAAAATTACCCTGATTTGGTCAATATGTGTACACATATTAAAACATTACACTTTAACCCATAAATATGTATAATGATTATGTATCAATTAAAAATAAAAGAAAATAAAGTAGGGAGATTATGAATATGCAAATAAGCACACATATATTCCAAATAGTAATGTACTAGGCAGACTGTGTAAAGTTTTTTTTTAAGTTACTTAATGTATCTCAGAGATATTTCCTTTTGTTATACACAATGTTAAGGCATTAAGTATAATAGTAAAAATTGCGGAGAAGAAAAAAAAAGAAAGCAAGAATTAAACAAAAGAAAACAATTGTTATGAACAGCAAATAAAAGAAACTAAAACGATCCTGAGACTTCCACACTGATGCAATCATTCGTCTGTTTCCCATTCTAAACTGTACCCTGTTACTTATCCCCTTCCTATGACATGAACTTAACCATAGAAAAGAAGGGGAAAGAAAACATCAAGCGTCCCATAGACTCACCCTGAAGTTCTCAGGATCCACGTGCAGCTTGTCACAGTGCAGCTCACTCAGTGTGGCAAAGGTGCCCTTGAGGTTGTCCAGGTGAGCCAGGCCATCACTAAAGGCACCGAGCACTTTCTTGCCATGAGCCTTCACCTTAGGGTTGCCCATAACAGCATCAGGAGTGGACAGATCCCCAAAGGACTCAAAGAACCTCTGGGTCCAAGGGTAGACCACCAGCAGCCTAAGGGTGGGAAAATAGACCAATAGGCAGAGAGAGTCAGTGCCTATCAGAAACCCAAGAGTCTTCTCTGTCTCCACATGCCCAGTTTCTATTGGTCTCCTTAAACCTGTCTTGTAACCTTGATACCAACCTGCCCAGGGCCTCACCACCAACTTCATCCACGTTCACCTTGCCCCACAGGGCAGTAACGGCAGACTTCTCCTCAGGAGTCAGATGCACCATGGTGTCTGTTTGAGGTTGCTAGTGAACACAGTTGTGTCAGAAGCAAATGTAAGCAATAGATGGCTCTGCCCTGACTTTTATGCCCAGCCCTGGCTCCTGCCCTCCCTGCTCCTGGGAGTAGATTGGCCAACCCTAGGGTGTGGCTCCACAGGGTGAGGTCTAAGTGATGACAGCCGTACCTGTCCTTGGCTCTTCTGGCACTGGCTTAGGAGTTGGACTTCAAACCCTCAGCCCTCCCTCTAAGATATATCTCTTGGCCCCATACCATCAGTACAAATTGCTACTAAAAACATCCTCCTTTGCAAGTGTATTTACGTAATATTTGGAATCACAGCTTGGTAAGCATATTGAAGATCGTTTTCCCAATTTTCTTATTACACAAATAAGAAG	T	A5225895T	HBB	NC_000011.10:g.5225895_5227411del1517insT	noncoding	Pathogenic
11	5225927	TA	T	A5225929C	HBB	NM_000518.5(HBB):c.316-202del	noncoding	Pathogenic
11	5226162	ATTATGTATCAATTAAAAATAAAAGAAAATAAAGTAGGGAGATTATGAATATGCAAATAAGCACACATATATTCCAAATAGTAATGTACTAGGCAGACTGTGTAAAGTTTTTTTTTAAGTTACTTAATGTATCTCAGAGATATTTCCTTTTGTTATACACAATGTTAAGGCATTAAGTATAATAGTAAAAATTGCGGAGAAGAAAAAAAAAGAAAGCAAGAATTAAACAAAAGAAAACAATTGTTATGAACAGCAAATAAAAGAAACTAAAACGATCCTGAGACTTCCACACTGATGCAATCATTCGTCTGTTTCCCATTCTAAACTGTACCCTGTTACTTATCCCCTTCCTATGACATGAACTTAACCATAGAAAAGAAGGGGAAAGAAAACATCAAGCGTCCCATAGACTCACCCTGAAGTTCTCAGGATCCACGTGCAGCTTGTCACAGTGCAGCTCACTCAGTGTGGCAAAGGTGCCCTTGAGGTTGTCCAGGTGAGCCAGGCCATCACTAAAGGCACCGAGCACTTTCTTGCCATGAGCCTTCACCTTAGGGTTGCCCATAACAGCATCAGGAGTGGACAGATCCCCAAAGGACTCAAAGAACCTCTGGGTCCAAGGGTAGACCACCAGCAGCCTAAGGGTGGGAAAATAGACCAATAGGCAGAGAGAGTCAGTGCCTATCAGAAACCCAAGAGTCTTCTCTGTCTCCACATGCCCAGTTTCTATTGGTCTCCTTAAACCTGTCTTGTAACCTTGATACCAACCTGCCCAGGGCCTCACCACCAACTTCATCCACGTTCACCTTGCCCCACAGGGCAGTAACGGCAGACTTCTCCTCAGGAGTCAGATGCACCATGGTGTCTGTTTGAGGTTGCTAGTGAACACAGTTGTGTCAGAAGCAAATGTAAGCAATAGATGGCTCTGCCCTGACTTTTATGCCCAGCCCTGGCTCCTGCCCTCCCTGCTCCTGGGAGTAGATTGGCCAACCCTAGGGTGTGGCTCCACAGGGTGAGGTCTAAGTGATGACAGCCGTACCTGTCCTTGGCTCTTCTGGCACTGGCTTAGGAGTTGGACTTCAAACCCTCAGCCCTCCCTCTAAGATATATCTCTTGGCCCCATACCATCAGTACAAATTGCTACTAAAAACATCCTCCTTTGCAAGTGTATTTACGTAATATTTGGAATCACAGCTTGGTAAGCATATTGAAGATCGTTTTCCCAATTTTCTTATTACACAAATAAGAAGTTGATGCACTAAAAGTGGAAGAGTTTTGTCTACCATAATTCAGCTTTGGGATATGTAGATGGATCTCTTCCTGCGTCTCCAGAATATGCAAAATACTTACAGGACAGAATGGATGAAAACTCTACCTCGGTTCTAAGCATATCT	A	T5226164C	HBB	NM_000518.5(HBB):c.0_315+414del	noncoding	Pathogenic
11	5226451	CACTGATGCAATCATTCGTCTGTTTCCCATTCTAAACTGTACCCTGTTACTTATCCCCTTCCTATGACATGAACTTAACCATAGAAAAGAAGGGGAAAGAAAACATCAAGCGTCCCATAGACTCACCCTGAAGTTCTCAGGATCCACGTGCAGCTTGTCACAGTGCAGCTCACTCAGTGTGGCAAAGGTGCCCTTGAGGTTGTCCAGGTGAGCCAGGCCATCACTAAAGGCACCGAGCACTTTCTTGCCATGAGCCTTCACCTTAGGGTTGCCCATAACAGCATCAGGAGTGGACAGATCCCCAAAGGACTCAAAGAACCTCTGGGTCCAAGGGTAGACCACCAGCAGCCTAAGGGTGGGAAAATAGACCAATAGGCAGAGAGAGTCAGTGCCTATCAGAAACCCAAGAGTCTTCTCTGTCTCCACATGCCCAGTTTCTATTGGTCTCCTTAAACCTGTCTTGTAACCTTGATACCAACCTGCCCAGGGCCTCACCACCAACTTCATCCACGTTCACCTTGCCCCACAGGGCAGTAACGGCAGACTTCTCCTCAGGAGTCAGATGCACCATGGTGTCTGTTTGAGGTTGCTAGTGAACACAGTTGTGTCAGAAGCAAATGTAAGCAATAGATGGCTCTGCCCTGACTTTTATGCCCAGCCCTGGCTCCTGCCCTCCCTGCTCCTGGGAGTAGATTGGCCAACCCTAGGGTGTGGCTCCACAGGGTGAGGTCTAAGTGATGACAGCCGTACCTGTCCTTGGCTCTTCTGGCACTGGCTTAGGAGTTGGACTTCAAACCCTCAGCCCTCCCTCTAAGATATATCTCTTGGCCCCATACCATCAGTACAAATTGCTACTAAAAACATCCTCCTTTGCAAGTGTATTTACGTAATATTTGGAATCACAGCTTGGTAAGCATATTGAAGATCGTTTTCCCAATTTTCTTATTACACAAATAAGAAGTTGATGCACTAAAAGTGGAAGAGTTTTGTCTACCATAATTCAGCTTTGGGATATGTAGATGGATCTCTTCCTGCGTCTCCAGAATATGCAAAATACTTACAGGACAGAATGGATGAAAACTCTACCTCGGTTCTAAGCATATCTTCTCCTTATTTGGATTAAAACCTTCTGGTAAGAAAAGAAAAAATATATATATATATGTGTGTATATATACACACATACATATACATATATATGCATTCATTTGTTGTTGTTTTTCTTAATTTGCTCATGCATGCTAATAAATTATGTCTAAAAATAGAATAAATACAAATCAATGTGCTCTGTGCATTAGTTACTTATTAGGTTTTGGGAAACAAGAGATAAAAAACTAGAGACCTCTTAATGCAGTCAAAAATACAAATAAATAAAAAGTCACTTACAACCCAAAGTGTGACTATCAATGGGGTAATCAGTGGTGTCAAATAGGAGGTTAACTGGGGACATCTAACTGTTTCTGCCTGGACTAATCTGCAAGAGTGTCTGGGGGAACAAAAAGCCTCTGTGACTTAGAAAGTAGGGGTAGGAGGGGAAAAGGTCTTCTACTTGGCTCAGATTATTTTTTTCCTCTAGTCCACTAAGAATACTGCGTTTTAAAATCATTT	C	A5226452C	HBB	NC_000011.10:g.5226452_5228055del	noncoding	Pathogenic
11	5226571	ACT	A	T5226573A	HBB	NM_000518.5(HBB):c.315+4_315+5del	noncoding	Pathogenic
11	5226575	AC	A	C5226578T	HBB	NM_000518.5(HBB):c.315+1del	noncoding	Pathogenic
11	5226590	GG	AAGTTCTCAGA	G5226590A	HBB	NM_000518.5(HBB):c.301_302delinsTCTGAGAACTT:p.Pro101delinsSerGluAsnPhe	coding	Pathogenic
11	5226596	A	ACGTG	A5226602G	HBB	NM_000518.5(HBB):c.292_295dup:p.Val99fs	coding	Pathogenic/Likely_pathogenic
11	5226596	A	ACGTGCAGCTTGTCACAGTGCAGCT	A5226622G	HBB	NM_000518.5(HBB):c.272_295dup:p.Glu91_His98dup	coding	Pathogenic
11	5226604	C	CT	G5226607T	HBB	NM_000518.4(HBB):c.287dupA:p.Leu97Alafs	coding	Pathogenic
11	5226608	T	TCA	G5226613C	HBB	NM_000518.5(HBB):c.280_281TG[3]:p.Asp95fs	coding	Pathogenic
11	5226612	A	ACCAC	G5226613C	HBB	NM_000518.5(HBB):c.279_280insGTGG:p.Cys94fs	coding	Pathogenic
11	5226616	C	CA	G5226618A	HBB	NM_000518.5(HBB):c.275dup:p.His93fs	coding	Pathogenic
11	5226620	TCA	T	A5226622T	HBB	NM_000518.5(HBB):c.270_271del:p.Ser90fs	coding	Pathogenic
11	5226624	TCA	T	C5226625G	HBB	NM_000518.5(HBB):c.266_267del:p.Leu89fs	coding	Pathogenic
11	5226625	CAG	C	A5226626T	HBB	NM_000518.5(HBB):c.265_266del:p.Leu89fs	coding	Pathogenic
11	5226625	C	CA	G5226627A	HBB	NM_000518.5(HBB):c.266dup:p.Ser90fs	coding	Pathogenic
11	5226626	AGTGTGGCAAAGGTGCCCTTGAG	A	G5226629T	HBB	NM_000518.5(HBB):c.244_265del:p.Asn81_Leu82insTer	coding	Pathogenic
11	5226631	GGCAAAGGT	G	A5226634C	HBB	NM_000518.5(HBB):c.253_260del:p.Thr85fs	coding	Pathogenic
11	5226633	C	CA	G5226637A	HBB	NM_000518.5(HBB):c.258dup:p.Ala87fs	coding	Pathogenic
11	5226635	AAGGTGCCCTTGAGGTTGTCC	A	C5226641A	HBB	NM_000518.5(HBB):c.237_256del:p.Asp80fs	coding	Pathogenic
11	5226636	A	AG	T5226639G	HBB	NM_000518.5(HBB):c.255dup:p.Phe86fs	coding	Pathogenic
11	5226640	GCCCTTGAGGTTGTCCAGGTGAGCCAGGCCATCACTAAAGGCACCGAGCACTTTCTTGCCATGAGCCTTCACCTTAGGGTTGCCCATAACAGCATCAGGAGTGGACAGATCCCCAAAGGACTCAAAGAACCTCTGGGTCCAAGGGTAGACCACCAGCAGCCTAAGGGTGGGAAAATAGACCAATAGGCAGAGAGAGTCAGTGCCTATCAGAAACCCAAGAGTCTTCTCTGTCTCCACATGCCCAGTTTCTATTGGTCTCCTTAAACCTGTCTTGTAACCTTGATACCAACCTGCCCAGGGCCTCACCACCAACTTCATCCACGTTCACCTTGCCCCACAGGGCAGTAACGGCAGACTTCTCCTCAGGAGTCAGATGCACCATGGTGTCTGTTTGAGGTTGCTAGTGAACACAGTTGTGTCAGAAGCAAATGTAAGCAATAGATGGCTCTGCCCTGACTTTTATGCCCAGCCCTGGCTCCTGCCCTCCCTGCTCCTGGGAGTAGATTGGCCAACCCTAGGGTGTGGCTCCACAGGGTGAGGTCTAAGTGATGACAGCCGTACCTGTCCTTGGCTCTTCTGGCACTGGCTTAGGAGTTGGACTTCAAACCCTCAGCCCTCCCTCTAAGATATATCTCTTGGCCCCATACCATCAGTACAAATTGCTACTAAAAACATCCTCCTTTGCAAGTGTATTTACGTAATATTTGGAATCACAGCTTGGTAAGCATATTGAAGATCGTTTTCCCAATTTTCTTATTACACAAATAAGAAGTTGATGCACTAAAAGTGGAAGAGTTTTGTCTACCATAATTCAGCTTTGGGATATGTAGATGGATCTCTTCCTGCGTCTCCAGAATATGCAAAATACTTACAGGACAGAATGGATGAAAACTCTACCTCGGTTCTAAGC	G	C5226641A	HBB	NC_000011.10:g.5226641_5227549del	coding	Pathogenic
11	5226640	GC	G	C5226643T	HBB	NM_000518.5(HBB):c.251del:p.Gly84fs	coding	Pathogenic
11	5226640	G	GCCCTTGAGGTTGTCCAGGTGAGCCAGGCCATCACTAAAGGCACCGAGCACTTTCTTGCCATGAGC	T5226707C	HBB	NM_000518.5(HBB):c.187_251dup:p.Thr85fs	coding	Pathogenic
11	5226647	AG	A	G5226649T	HBB	NM_000518.5(HBB):c.244del:p.Leu82fs	coding	Pathogenic
11	5226656	A	AG	T5226659G	HBB	NM_000518.5(HBB):c.235dup:p.Leu79fs	coding	Pathogenic
11	5226656	AG	A	G5226658T	HBB	NM_000518.5(HBB):c.235del:p.Leu79fs	coding	Pathogenic/Likely_pathogenic
11	5226659	TG	T	G5226660A	HBB	NM_000518.5(HBB):c.232del:p.His78fs	coding	Pathogenic
11	5226661	AG	A	G5226662C	HBB	NM_000518.5(HBB):c.230del:p.Ala77fs	coding	Pathogenic/Likely_pathogenic
11	5226661	AGC	A	G5226662C	HBB	NM_000518.5(HBB):c.229_230del:p.Ala77fs	coding	Pathogenic
11	5226671	TCACT	A	T5226671A	HBB	NM_000518.5(HBB):c.217_221delinsT:p.Ser73fs	coding	Pathogenic
11	5226671	TCA	T	A5226673T	HBB	NM_000518.5(HBB):c.219_220del:p.Ser73fs	coding	Pathogenic
11	5226672	C	CA	C5226674A	HBB	NM_000518.5(HBB):c.219dup:p.Asp74Ter	coding	Pathogenic
11	5226674	C	CT	A5226676T	HBB	NM_000518.5(HBB):c.217dup:p.Ser73fs	coding	Pathogenic/Likely_pathogenic
11	5226675	TA	T	A5226678G	HBB	NM_000518.5(HBB):c.216del:p.Phe72fs	coding	Pathogenic
11	5226675	T	TA	G5226679A	HBB	NM_000518.5(HBB):c.216dup:p.Ser73Ter	coding	Pathogenic
11	5226679	GGCACCGA	G	C5226684T	HBB	NM_000518.5(HBB):c.206_212del:p.Leu69fs	coding	Pathogenic
11	5226681	CA	C	A5226682C	HBB	NM_000518.5(HBB):c.210del:p.Ala71fs	coding	Pathogenic
11	5226682	AC	A	C5226684G	HBB	NM_000518.5(HBB):c.209del:p.Gly70fs	coding	Pathogenic
11	5226687	GCA	G	A5226689T	HBB	NM_000518.5(HBB):c.203_204del:p.Val68fs	coding	Pathogenic/Likely_pathogenic
11	5226696	TGCCATGA	T	A5226700T	HBB	NM_000518.5(HBB):c.189_195del:p.His64fs	coding	Pathogenic
11	5226697	GC	G	C5226699A	HBB	NM_000518.5(HBB):c.194del:p.Gly65fs	coding	Pathogenic
11	5226712	CT	C	T5226714A	HBB	NM_000518.5(HBB):c.179del:p.Lys60fs	coding	Pathogenic
11	5226714	TAGGGTTGCCCATA	T	G5226716C	HBB	NM_000518.5(HBB):c.165_177del:p.Met56fs	coding	Pathogenic
11	5226715	A	AG	T5226719G	HBB	NM_000518.5(HBB):c.176dup:p.Pro59_Lys60insTer	coding	Pathogenic
11	5226721	G	GCACCTTAGGGTTGC	C5226723A	HBB	NM_000518.5(HBB):c.170_171insGCAACCCTAAGGTG:p.Asn58_Pro59insGlnProTer	coding	Pathogenic
11	5226724	CATAA	TGATGCC	C5226724T	HBB	NM_000518.5(HBB):c.164_168delinsGGCATCA:p.Val55fs	coding	Pathogenic
11	5226725	A	AT	A5226727T	HBB	NM_000518.5(HBB):c.166dup:p.Met56fs	coding	Pathogenic
11	5226725	AT	A	T5226726A	HBB	NM_000518.5(HBB):c.166del:p.Met56fs	coding	Pathogenic
11	5226726	TA	T	A5226728C	HBB	NM_000518.5(HBB):c.165del:p.Met56fs	coding	Pathogenic
11	5226728	A	AC	A5226730C	HBB	NM_000518.5(HBB):c.163dup:p.Val55fs	coding	Pathogenic
11	5226729	CA	C	A5226730G	HBB	NM_000518.5(HBB):c.162del:p.Val55fs	coding	Pathogenic
11	5226733	AT	A	T5226734C	HBB	NM_000518.5(HBB):c.158del:p.Asp53fs	coding	Pathogenic
11	5226736	AG	A	G5226738A	HBB	NM_000518.5(HBB):c.155del:p.Pro52fs	coding	Pathogenic/Likely_pathogenic
11	5226738	GA	G	A5226739G	HBB	NM_000518.5(HBB):c.153del:p.Pro52fs	coding	Pathogenic
11	5226741	TG	T	G5226743A	HBB	NM_000518.5(HBB):c.150del:p.Thr51fs	coding	Pathogenic
11	5226745	CA	C	A5226746G	HBB	NM_000518.5(HBB):c.146del:p.Leu49fs	coding	Pathogenic
11	5226745	C	CAGAT	C5226750A	HBB	NM_000518.5(HBB):c.143_146dup:p.Thr51fs	coding	Pathogenic
11	5226746	A	AAGAT	G5226747A	HBB;LOC106099062;LOC107133510	NM_000518.5(HBB):c.145_146insATCT:p.Leu49fs	coding	Pathogenic
11	5226748	A	AT	C5226750T	HBB	NM_000518.5(HBB):c.143dup:p.Asp48fs	coding	Pathogenic
11	5226749	T	TC	A5226754C	HBB	NM_000518.5(HBB):c.142dup:p.Asp48fs	coding	Pathogenic
11	5226753	CA	C	A5226756G	HBB	NM_000518.5(HBB):c.138del:p.Phe46fs	coding	Pathogenic
11	5226753	C	CA	G5226757A	HBB	NM_000518.5(HBB):c.138dup:p.Gly47fs	coding	Pathogenic
11	5226756	AG	A	G5226758A	HBB	NM_000518.5(HBB):c.135del:p.Phe46fs	coding	Pathogenic
11	5226761	T	TC	A5226763C	HBB	NM_000518.5(HBB):c.130dup:p.Glu44fs	coding	Pathogenic
11	5226762	CAAA	C	A5226763G	HBB	NM_000518.5(HBB):c.127_129del:p.Phe43del	coding	Pathogenic
11	5226762	CAAAG	C	A5226765C	HBB	NM_000518.4(HBB):c.126_129delCTTT:p.Phe42fs	coding	Pathogenic/Likely_pathogenic
11	5226762	CA	C	A5226765G	HBB	NM_000518.5(HBB):c.129del:p.Phe43fs	coding	Pathogenic
11	5226762	C	CA	G5226766A	HBB	NM_000518.5(HBB):c.129dup:p.Glu44Ter	coding	Pathogenic
11	5226765	AG	A	G5226766A	HBB	NM_000518.5(HBB):c.126del:p.Phe43fs	coding	Pathogenic
11	5226766	G	GA	C5226769A	HBB	NM_000518.5(HBB):c.125dup:p.Phe43fs	coding	Pathogenic
11	5226768	AC	A	C5226770T	HBB	NM_000518.5(HBB):c.123del:p.Arg41fs	coding	Pathogenic
11	5226771	TCTGGGTC	T	T5226773A	HBB	NM_000518.5(HBB):c.114_120del:p.Pro37_Trp38insTer	coding	Pathogenic
11	5226773	TGGGTCCAA	T	C5226778A	HBB	NM_000518.5(HBB):c.111_118del:p.Trp38fs	coding	Pathogenic
11	5226773	TGG	T	G5226775T	HBB	NM_000518.5(HBB):c.117_118del:p.Gln40fs	coding	Pathogenic
11	5226773	TG	T	G5226776T	HBB	NM_000518.5(HBB):c.118del:p.Gln40fs	coding	Pathogenic
11	5226779	CA	C	A5226781G	HBB	NM_000518.5(HBB):c.112del:p.Trp38fs	coding	Pathogenic
11	5226781	AG	A	G5226784T	HBB	NM_000518.5(HBB):c.110del:p.Pro37fs	coding	Pathogenic
11	5226795	GCAGCCTAAGGGTGGGAAAATAGACC	G	C5226796A	HBB	NM_000518.5(HBB):c.93-21_96del	coding	Pathogenic
11	5226796	CAGCCTAAGGGTGGGAAAATAGACCA	C	G5226798T	HBB	NM_000518.5(HBB):c.93-22_95del	coding	Pathogenic
11	5226797	AG	A	G5226798C	HBB	NM_000518.5(HBB):c.94del:p.Leu32fs	coding	Pathogenic
11	5226799	CCTAAGGGTGGGAAAATA	C	C5226800G	HBB	NM_000518.5(HBB):c.93-17_93-1del	coding	Pathogenic
11	5226902	AAACCTGTCTTGTAACCTTGATACCAACCTGCCCAGGGCCTCACC	A	A5226904C	HBB	NM_000518.5(HBB):c.76_92+27del	noncoding	Pathogenic
11	5226904	ACCTGTCTTGTAACCTTGATACCAACCTGCCCAGGGCCTCACCACCAACTTCATCCACGTTCACCTTGCCCCACAGGGCAGTAACGGCAGACTTCTCCTCAGGAGTCAGATGCACCATGGTGTCTGTTTGAGGTTGCTAGTGAACACAGTTGTGTCAGAAGCAAATGTAAGCAATAGATGGCTCTGCCCTGACTTTTATGCCCAGCCCTGGCTCCTGCCCTCCCTGCTCCTGGGAGTAGATTGGCCAACCCTAGGGTGTGGCTCCACAGGGTGAGGTCTAAGTGATGACAGCCG	A	C5226905T	HBB	NM_000518.5(HBB):c.0_92+25del	noncoding	Pathogenic
11	5226930	CT	C	T5226931G	HBB	NM_000518.5(HBB):c.91del:p.Arg31fs	coding	Pathogenic
11	5226932	GC	G	C5226935A	HBB	NM_000518.5(HBB):c.89del:p.Gly30fs	coding	Pathogenic
11	5226936	A	AG	C5226940G	HBB	NM_000518.5(HBB):c.85dup:p.Leu29fs	coding	Pathogenic/Likely_pathogenic
11	5226936	AG	A	G5226939C	HBB	NM_000518.5(HBB):c.85del:p.Leu29fs	coding	Pathogenic
11	5226942	T	TA	C5226943A	HBB	NM_000518.5(HBB):c.79_80insT:p.Glu27fs	coding	Pathogenic
11	5226943	C	CA	C5226945A	HBB	NM_000518.5(HBB):c.78dup:p.Glu27Ter	coding	Pathogenic
11	5226947	AC	A	C5226949A	HBB	NM_000518.5(HBB):c.74del:p.Gly25fs	coding	Pathogenic
11	5226947	ACCAACTT	A	C5226949A	HBB	NM_000518.5(HBB):c.68_74del:p.Glu23fs	coding	Pathogenic
11	5226947	ACCAACTTCATCCACGTTCACCTTGCCCCACAGGGCAGTAACGGCAGACTTCTCCTCAGGAGTCAGATGCACCATGGTGTCTGTTTGAGGTTGCTAGTGAACACAGTTGTGTCAGAAGCAAATGTAAGCAATAGATGGCTCTGCCCTGACTTTTATGCCCAGCCCTGGCTCCTGCCCTCCCTGCTCCTGGGAGTAGATTGGCCAACCCTAGGGTGTGGCTCCACAGGGTGAGGTCTAAGTGATGACAGCCGTACCTGTCCTTGGCTCTTCTGGCACTGGCTTAGGAGTTGGACTTCAAACCCTCAGCCCTCCCTCTAAGATATATCTCTTGGCCCCATACCATCAGTACAAATTGCTACTAAAAACATCCTCCTTTGCAAGTGTATTTACGTAATATTTGGAATCACAGCTTGGTAAGCATATTGAAGATCGTTTTCCCAATTTTCTTATTACACAAATAAGAAGTTGATGCACTAAAAGTGGAAGAGTTTTGTCTACCATAATTCAGCTTTGGGATATGTAGATGGATCTCTTCCTGC	A	C5226948G	HBB	NC_000011.10:g.5226948_5227485del	coding	Pathogenic
11	5226948	CCAA	C	A5226950T	HBB	NM_000518.5(HBB):c.71_73del:p.Val24del	coding	Pathogenic
11	5226948	C	GTG	C5226948G	HBB	NM_000518.5(HBB):c.74delinsCAC:p.Gly25fs	coding	Pathogenic
11	5226970	TG	T	G5226971C	HBB	NM_000518.5(HBB):c.51del:p.Lys18fs	coding	Pathogenic
11	5226971	GC	G	C5226975A	HBB	NM_000518.5(HBB):c.50del:p.Gly17fs	coding	Pathogenic
11	5226971	G	GC	A5226976C	HBB	NM_000518.5(HBB):c.50dup:p.Lys18fs	coding	Pathogenic
11	5226975	CA	C	A5226976C	HBB	NM_000518.5(HBB):c.46del:p.Trp16fs	coding	Pathogenic
11	5226976	A	AC	A5226978C	HBB	NM_000518.5(HBB):c.45dup:p.Trp16fs	coding	Pathogenic
11	5226976	ACAGGGCAGTAACGGCAGACTTCTCCT	A	G5226981A	HBB	NM_000518.5(HBB):c.20_45del:p.Glu7fs	coding	Pathogenic
11	5226977	CA	C	A5226978G	HBB	NM_000518.5(HBB):c.44del:p.Leu15fs	coding	Pathogenic
11	5226977	C	CA	G5226979A	HBB	NM_000518.5(HBB):c.44dup:p.Trp16fs	coding	Pathogenic
11	5226985	TA	T	A5226987C	HBB	NM_000518.5(HBB):c.36del:p.Thr13fs	coding	Pathogenic
11	5226988	CG	C	G5226990C	HBB	NM_000518.5(HBB):c.33del:p.Val12fs	coding	Pathogenic
11	5226989	GGCAGACTTCTCCT	G	G5226990C	HBB	NM_000518.5(HBB):c.20_32del:p.Glu7fs	coding	Pathogenic
11	5226990	GCAGACTTCTCCTCAGGAGTCAGATGCACCATGGTGTCTGTTTGAGGTTGCTAGTGAACACAGTTGTGTCAGAAGCAAATGTAAGCAATAGATGGCTCTGCCCTGA	G	A5226992T	HBB	NC_000011.10:g.5226992_5227096del	coding	Pathogenic
11	5226993	GACTTCTCCTCAGGAGTCAGATGCACCATGGTGTCTGTTTGAGGTTGCTAGTGAACACAGTTGTGTCAGAAGCAAATGTAAGCAATAGATGGCTCTGCCCTGACTTTTATGCCCAGCCCTGGCTCCTGCCCTCCCTGCTCCTGGGAGTAGATTGGCCAACCCTAGGGTGTGGCTCCACAGGGTGAGGTCTAAGTGATGACAGCCGTACCTGTCCTTGGCTCTTCTGGCACTGGCTTAGGAGTTGGACTTCAAACCCTCAGCCCTCCCTCTAAGATATATCTCTTGGCCCCATACCATCAGTACAAATTGCTACTAAAAACATCCTCCTTTGCAAGTGTATTTACGTAATATTTGGAATCACAGCTTGGTAAGCATATTGAAGATCGTTTTCCCAATTTTCTTATTACACAAATAAGAAGTTGATGCACTAAAAGTGGAAGAGTTTTGTCTACCATAATTCAGCTTTGGGATATGTAGATGGATCTCTTCCTGCGTCTCCAGAATATGCAAAATACTTACAGGACAGAATGGAT	G	A5226994G	HBB	NC_000011.10:g.5226994_5227525del	coding	Pathogenic
11	5226993	G	GTA	A5226994T	HBB	NM_000518.5(HBB):c.28_29insTA:p.Ser10fs	coding	Pathogenic
11	5226994	A	AC	T5226996C	HBB	NM_000518.4(HBB):c.27dupG:p.Ser10Valfs*14	coding	Pathogenic
11	5226994	A	ATTCT	C5226995T	HBB	NM_000518.5(HBB):c.27_28insAGAA:p.Ser10fs	coding	Pathogenic
11	5226995	CTT	C	T5226996C	HBB	NM_000518.5(HBB):c.25_26del:p.Lys9fs	coding	Pathogenic
11	5226997	T	TC	T5226999C	HBB	NM_000518.5(HBB):c.24dup:p.Lys9fs	coding	Pathogenic
11	5226998	C	CTCCTCAGGAGTCAGATGCACCATGGTGTCTGTTTGAGGTTGCTAG	G5227045C	HBB	NM_000518.5(HBB):c.-22_23dup:p.Glu8delinsAspTer	coding	Pathogenic
11	5227001	CT	C	T5227002C	HBB	NM_000518.5(HBB):c.20del:p.Glu7fs	coding	Pathogenic
11	5227002	TCA	T	C5227003G	HBB	NM_000518.5(HBB):c.18_19del:p.Glu7fs	coding	Pathogenic
11	5227003	CAG	C	A5227004G	HBB	NM_000518.5(HBB):c.17_18del:p.Pro6fs	coding	Pathogenic
11	5227006	GAGTCAGAT	ACTTCTCCTCAGGCAGACTTCACCTCAG	G5227006A	HBB	NM_000518.5(HBB):c.8_16delinsCTGAGGTGAAGTCTGCCTGAGGAGAAGT:p.His3_Pro6delinsProGluValLysSerAlaTer	coding	Pathogenic
11	5227010	C	CA	G5227012A	HBB	NM_000518.5(HBB):c.11dup:p.Thr5fs	coding	Pathogenic
11	5227013	AT	A	T5227014G	HBB	NM_000518.5(HBB):c.8del:p.His3fs	coding	Pathogenic
11	5227017	AC	A	C5227019A	HBB	NM_000518.5(HBB):c.4del:p.Val2fs	coding	Pathogenic
11	5227061	GA	G	A5227063G	HBB	NM_000518.5(HBB):c.-41del	noncoding	Pathogenic
11	5227130	CTCCTGGGAGTAGATTGGCCAACCCTAGGGTGTGGCTCCACAGGGTGAGGTCTAAGTGATGACAGCCGTACCTGTCCTTGGCTCTTCTGGCACTGGCTTAGGAGTTGGACTTCAAACCCTCAGCCCT	C	T5227131C	HBB	NC_000011.10:g.5227131_5227256del	noncoding	Pathogenic
11	5234126	CT	C	T5234128A	HBD	NM_000519.4(HBD):c.179del:p.Lys60fs	coding	Pathogenic
11	5516206	AGAAGGCAACCCAT	A	G5516211A	UBQLNL	NM_145053.5(UBQLNL):c.223_235del:p.Met75fs	coding	Benign
11	6390601	GC	G	C6390605G	SMPD1	NM_000543.5(SMPD1):c.7del:p.Arg3fs	coding	Pathogenic
11	6390677	GC	G	C6390682G	SMPD1	NM_000543.5(SMPD1):c.84del:p.Gly29fs	coding	Pathogenic
11	6390700	CCTGGTGCTGGCG	C	T6390705C	SMPD1	NM_000543.5(SMPD1):c.107_118del:p.Val36_Leu39del	coding	Benign
11	6390700	CCTGGTGCTGGCGCTGGCG	C	T6390705C	SMPD1	NM_000543.5(SMPD1):c.107_124del:p.Val36_Leu41del	coding	Benign
11	6390702	T	TG	T6390705G	SMPD1	NM_000543.5(SMPD1):c.106dup:p.Val36fs	coding	Pathogenic
11	6390705	TGCTGGCGCT	CGC	T6390705C	SMPD1	NM_000543.5(SMPD1):c.107_116delinsCGC:p.Val36fs	coding	Pathogenic
11	6390705	TGCTGGCGCTGGCGCTGGC	T	G6390724T	SMPD1	NM_000543.4(SMPD1):c.126_143del:p.Ala44_Leu49del	coding	Benign
11	6390705	TGCTGGC	T	G6390736T	SMPD1	NM_000543.5(SMPD1):c.108_113GCTGGC[5]:p.38_39AL[5]	coding	Benign
11	6390705	T	TGGC	C6390707G	SMPD1	NM_000543.5(SMPD1):c.108_109insGCG:p.Leu37_Ala38insAla	coding	Benign
11	6390707	CTGGCGCT	C	T6390708G	SMPD1	NM_000543.5(SMPD1):c.110_116del:p.Leu37fs	coding	Pathogenic
11	6390710	GC	G	C6390711G	SMPD1	NM_000543.5(SMPD1):c.113del:p.Ala38fs	coding	Benign
11	6390711	CG	C	G6390712C	SMPD1	NM_000543.5(SMPD1):c.114del:p.Leu39fs	coding	Pathogenic/Likely_pathogenic
11	6390746	TCTGA	T	G6390749C	SMPD1	NM_000543.5(SMPD1):c.151_154del:p.Asp51fs	coding	Pathogenic/Likely_pathogenic
11	6391417	GC	G	C6391419A	SMPD1	NM_000543.5(SMPD1):c.354del:p.Ile119fs	coding	Pathogenic/Likely_pathogenic
11	6391579	A	AT	C6391584T	SMPD1	NM_000543.5(SMPD1):c.518dup:p.Ser174fs	coding	Pathogenic/Likely_pathogenic
11	6391586	C	CT	A6391587T	SMPD1	NM_000543.5(SMPD1):c.521_522insT:p.Ser175fs	coding	Pathogenic
11	6391601	CTT	C	T6391603G	SMPD1	NM_000543.5(SMPD1):c.538_539del:p.Leu180fs	coding	Pathogenic/Likely_pathogenic
11	6391623	GC	G	C6391629A	SMPD1	NM_000543.5(SMPD1):c.564del:p.Lys189fs	coding	Pathogenic
11	6391623	G	GC	A6391630C	SMPD1	NM_000543.5(SMPD1):c.564dup:p.Lys189fs	coding	Pathogenic
11	6391623	G	GT	C6391624T	SMPD1	NM_000543.5(SMPD1):c.558_559insT:p.Pro187fs	coding	Pathogenic
11	6391630	A	AC	A6391631C	SMPD1	NM_000543.5(SMPD1):c.565_566insC:p.Lys189fs	coding	Pathogenic
11	6391637	CT	C	T6391638A	SMPD1	NM_000543.5(SMPD1):c.573del:p.Ser192fs	coding	Pathogenic
11	6391762	T	TCTGGCCTGCCGCCCGCATC	C6391783T	SMPD1	NM_000543.5(SMPD1):c.699_717dup:p.Arg240fs	coding	Pathogenic
11	6391827	G	GC	T6391832C	SMPD1	NM_000543.5(SMPD1):c.766dup:p.Leu256fs	coding	Pathogenic
11	6391845	GAGCCTGTTGAGTGGGCTGGGCCC	G	T6391850G	SMPD1	NM_000543.5(SMPD1):c.785_807del:p.Leu262fs	coding	Pathogenic/Likely_pathogenic
11	6391857	TG	T	G6391860C	SMPD1	NM_000543.5(SMPD1):c.795del:p.Leu266fs	coding	Pathogenic
11	6391904	A	ACATCCCCG	C6391915T	SMPD1	NM_000543.5(SMPD1):c.842_849dup:p.His284fs	coding	Pathogenic
11	6392055	TC	T	C6392061T	SMPD1	NM_000543.5(SMPD1):c.996del:p.Phe333fs	coding	Pathogenic
11	6393231	T	TG	C6393233G	SMPD1	NM_000543.5(SMPD1):c.1108dup:p.Ala370fs	coding	Pathogenic
11	6393232	GCT	G	C6393235T	SMPD1	NM_000543.5(SMPD1):c.1109_1110CT[1]:p.Leu371fs	coding	Pathogenic/Likely_pathogenic
11	6393262	ATC	A	T6393269A	SMPD1	NM_000543.5(SMPD1):c.1145_1146del:p.Leu382fs	coding	Pathogenic/Likely_pathogenic
11	6393934	CT	C	T6393935C	SMPD1	NM_000543.5(SMPD1):c.1380del:p.His461fs	coding	Pathogenic
11	6393936	CAT	C	A6393937G	SMPD1	NM_000543.5(SMPD1):c.1382_1383del:p.His461fs	coding	Pathogenic
11	6393972	ACT	A	C6393975G	SMPD1	NM_000543.5(SMPD1):c.1418_1419CT[1]:p.Leu474fs	coding	Pathogenic
11	6393996	GCCTT	G	T6394000G	SMPD1	NM_000543.5(SMPD1):c.1445_1448del:p.Phe482fs	coding	Pathogenic
11	6394200	TACCGTGTGTACCA	T	C6394202A	SMPD1	NM_000543.5(SMPD1):c.1491_1503del:p.Gly496_Tyr497insTer	coding	Pathogenic
11	6394243	AC	A	C6394244G	SMPD1	NM_000543.5(SMPD1):c.1533del:p.His511fs	coding	Pathogenic
11	6394292	CAT	C	T6394294C	SMPD1	NM_000543.5(SMPD1):c.1583_1584del:p.Ile528fs	coding	Pathogenic
11	6394338	GA	G	A6394341C	SMPD1	NM_000543.5(SMPD1):c.1630del:p.Thr544fs	coding	Pathogenic
11	6394385	GGT	G	G6394386A	SMPD1	NM_000543.5(SMPD1):c.1675_1676del:p.Val559fs	coding	Pathogenic
11	6394494	CTT	C	T6394496G	SMPD1	NM_000543.5(SMPD1):c.1785_1786del:p.Ala597fs	coding	Pathogenic/Likely_pathogenic
11	6394536	TGCC	T	G6394540A	APBB1;SMPD1	NM_000543.5(SMPD1):c.1826_1828GCC[1]:p.Arg610del	coding	Pathogenic
11	6608798	TC	T	C6608802A	ILK	NM_004517.4(ILK):c.448+12del	noncoding	Benign
11	6614558	TAG	T	A6614561T	TPP1	NM_000391.4(TPP1):c.1676_1677CT[1]:p.Leu560fs	coding	Pathogenic
11	6614919	GA	G	A6614920G	TPP1	NM_000391.4(TPP1):c.1497del:p.Gly501fs	coding	Pathogenic
11	6615188	ATGGAATGGGCA	TCGGTGTC	A6615188T	TPP1	NM_000391.4(TPP1):c.1397_1408delinsGACACCGA:p.Val466fs	coding	Pathogenic
11	6616063	C	AA	C6616063A	TPP1	NM_000391.4(TPP1):c.1087delinsTT:p.Ala363fs	coding	Pathogenic
11	6616410	TCTCCATAG	T	C6616414A	TPP1	NM_000391.4(TPP1):c.972_979del:p.Ser324fs	coding	Pathogenic/Likely_pathogenic
11	6616447	ACT	A	T6616449A	TPP1	NM_000391.4(TPP1):c.941_942del:p.Glu314fs	coding	Pathogenic
11	6616450	CAT	C	A6616451T	TPP1	NM_000391.4(TPP1):c.938_939del:p.Asn313fs	coding	Pathogenic
11	6616508	ATT	A	T6616527G	TPP1	NM_000391.4(TPP1):c.887-7_887-6del	noncoding	Benign
11	6616508	ATTT	A	T6616526G	TPP1	NM_000391.4(TPP1):c.887-8_887-6del	noncoding	Benign
11	6616508	ATTTT	A	T6616525G	TPP1	NM_000391.4(TPP1):c.887-9_887-6del	noncoding	Benign
11	6617305	G	GTCCA	C6617310T	TPP1	NM_000391.4(TPP1):c.500_503dup:p.Phe169fs	coding	Pathogenic
11	6617437	C	CA	G6617439A	TPP1	NM_000391.4(TPP1):c.381-10dup	noncoding	Benign/Likely_benign
11	6617619	CTCTCACCGGAT	C	T6617620G	TPP1	NM_000391.4(TPP1):c.376_380+6del	noncoding	Pathogenic
11	6617731	GA	G	A6617732T	TPP1	NM_000391.4(TPP1):c.274del:p.Ser92fs	coding	Pathogenic
11	6618819	CGA	C	A6618823T	TPP1	NM_000391.4(TPP1):c.182_183TC[1]:p.Ser62fs	coding	Pathogenic/Likely_pathogenic
11	6632968	TG	T	G6632969T	DCHS1	NM_003737.4(DCHS1):c.2543del:p.Thr848fs	coding	Pathogenic
11	6795057	CAG	C	A6795062T	OR6A2	NC_000011.10:g.6795058_6795059AG[2]	coding	Benign
11	8100574	TGA	T	A8100580T	TUB	NM_003320.4(TUB):c.1355_1356AG[2]:p.Arg453fs	coding	Pathogenic
11	9139723	TG	T	G9139724C	DENND5A	NM_015213.4(DENND5A):c.3811del:p.Gln1271fs	coding	Pathogenic
11	9150738	TC	T	C9150740T	DENND5A	NM_015213.4(DENND5A):c.2547del:p.Lys850fs	coding	Pathogenic
11	9165938	G	GC	A9165942C	DENND5A	NM_015213.4(DENND5A):c.2180dup:p.Ser728fs	coding	Pathogenic
11	9204090	GTC	G	C9204094G	DENND5A	NM_015213.4(DENND5A):c.515_516GA[1]:p.Asp173fs	coding	Pathogenic
11	9784237	AC	A	C9784238T	SBF2	NM_030962.3(SBF2):c.5319+113del	noncoding	Benign
11	9785367	T	TACTG	G9785376A	SBF2	NM_030962.3(SBF2):c.5038-57CAGT[3]	noncoding	Benign
11	9962263	A	AC	A9962265C	SBF2	NM_030962.3(SBF2):c.1711-158dup	noncoding	Benign
11	10000951	CCAATAATGAAAGGCGTTGGGGAACTTAGAACTTCCAGTAGCTGAGCCGGGAGAATAGGGATATAAGGATA	C	C10000952A	SBF2	NM_030962.3(SBF2):c.754_823del:p.Tyr252fs	coding	Pathogenic
11	10042929	A	AAC	G10042932A	SBF2	NM_030962.3(SBF2):c.192_193dup:p.Phe65fs	coding	Pathogenic
11	10294048	AGT	A	G10294049A	SBF2	NM_030962.3(SBF2):c.20_21del:p.Tyr7fs	coding	Pathogenic
11	12878800	CAT	C	A12878809G	TEAD1	NM_021961.6(TEAD1):c.331-907AT[4]	noncoding	Benign
11	14358792	T	TGCCCACGCC	C14358806A	RRAS2	NM_012250.6(RRAS2):c.70_78dup:p.Gly24_Gly26dup	coding	Pathogenic
11	14358797	A	ACGCCGCCCC	A14358812C	RRAS2	NM_012250.6(RRAS2):c.65_73dup:p.Gly22_Gly24dup	coding	Pathogenic
11	14880367	G	GA	T14880372A	CYP2R1	NM_024514.5(CYP2R1):c.768dup:p.Leu257fs	coding	Pathogenic
11	14892069	AGCCCCGGCGGCCC	CG	A14892069C	CYP2R1	NM_024514.5(CYP2R1):c.124_137delinsCG:p.Gly42_Leu46delinsArg	coding	Pathogenic
11	16111822	A	AG	A16111829G	SOX6	NM_033326.3(SOX6):c.878dup:p.Gly294fs	coding	Pathogenic
11	17387124	T	TC	T17387127C	KCNJ11	NM_000525.3(KCNJ11):c.967dup:p.Asp323fs	coding	Pathogenic
11	17387723	G	GA	G17387728A	KCNJ11	NM_000525.3(KCNJ11):c.368dup:p.Ser124fs	coding	Pathogenic
11	17387853	AG	A	G17387855A	KCNJ11	NM_000525.4(KCNJ11):c.238del:p.Leu80fs	coding	Pathogenic
11	17394333	CG	C	G17394336C	ABCC8	NM_000352.6(ABCC8):c.4477del:p.Arg1493fs	coding	Pathogenic
11	17394353	CCT	C	C17394356G	ABCC8	NM_000352.6(ABCC8):c.4454_4455AG[1]:p.Arg1486fs	coding	Pathogenic
11	17395600	TG	T	G17395604C	ABCC8	NM_000352.6(ABCC8):c.4307+9del	noncoding	Benign
11	17395887	GAGA	G	A17395890G	ABCC8	NM_000352.6(ABCC8):c.4160_4162del:p.Phe1387del	coding	Pathogenic
11	17395890	AAGG	A	G17395895C	ABCC8	NM_000352.6(ABCC8):c.4154_4156CCT[1]:p.Ser1386del	coding	Pathogenic
11	17395897	ACT	A	C17395898T	ABCC8	NM_000352.6(ABCC8):c.4151_4152del:p.Lys1384fs	coding	Pathogenic
11	17395910	GGT	TG	G17395910T	ABCC8	NM_000352.6(ABCC8):c.4138_4140delinsCA:p.Thr1380fs	coding	Pathogenic
11	17402736	TC	T	C17402738A	ABCC8	NM_000352.6(ABCC8):c.3574del:p.Asp1192fs	coding	Pathogenic/Likely_pathogenic
11	17404559	CA	C	A17404560G	ABCC8	NM_000352.6(ABCC8):c.3509del:p.Leu1170fs	coding	Pathogenic
11	17405514	CA	C	A17405515G	ABCC8	NM_000352.6(ABCC8):c.3378del:p.Asp1127fs	coding	Pathogenic
11	17406900	GCAGTTCCTGGCTGCAGGGGT	G	T17406904G	ABCC8	NM_000352.6(ABCC8):c.3130_3149del:p.Thr1044fs	coding	Pathogenic/Likely_pathogenic
11	17406924	GGT	CAGTTCCTGGCTG	G17406924C	ABCC8	NM_000352.6(ABCC8):c.3124_3126delinsCAGCCAGGAACTG:p.Thr1042fs	coding	Pathogenic/Likely_pathogenic
11	17406967	GC	G	C17406969A	ABCC8	NM_000352.6(ABCC8):c.3082del:p.Ala1028fs	coding	Pathogenic
11	17407435	TTCTC	T	C17407439G	ABCC8	NM_000352.6(ABCC8):c.2833_2834GA[1]:p.Arg946fs	coding	Pathogenic/Likely_pathogenic
11	17414595	CACGGGGCCTCTC	TT	C17414595T	ABCC8	NM_000352.6(ABCC8):c.2295_2307delinsAA:p.Arg766fs	coding	Pathogenic
11	17415314	AGTCG	A	G17415319C	ABCC8	NM_000352.6(ABCC8):c.2273_2276CGAC[1]:p.Asp760fs	coding	Pathogenic
11	17427068	CT	C	T17427069G	ABCC8	NM_000352.6(ABCC8):c.2202del:p.Ala736fs	coding	Pathogenic/Likely_pathogenic
11	17428608	TG	T	G17428614C	ABCC8	NM_000352.6(ABCC8):c.1879del:p.His627fs	coding	Pathogenic
11	17430878	TA	T	A17430879T	ABCC8	NM_000352.6(ABCC8):c.1752del:p.His584fs	coding	Pathogenic
11	17430884	A	AGAGGGAGAGGGAGGC	A17430900G	ABCC8	NM_000352.6(ABCC8):c.1732_1746dup:p.Ala578_Leu582dup	coding	Pathogenic
11	17432240	GA	G	A17432244C	ABCC8	NM_000352.6(ABCC8):c.1634del:p.Phe545fs	coding	Pathogenic
11	17448563	T	TGAGCTGATTGGTGTCGATGGCAACCAGATTA	C17448595G	ABCC8	NM_000352.6(ABCC8):c.1254_1284dup:p.Met429Ter	coding	Pathogenic
11	17461679	CT	C	T17461681G	ABCC8	NM_000352.6(ABCC8):c.725del:p.Lys242fs	coding	Pathogenic
11	17461806	GT	G	T17461807C	ABCC8	NM_000352.6(ABCC8):c.598del:p.Thr200fs	coding	Pathogenic
11	17461820	G	GT	A17461822T	ABCC8	NM_000352.6(ABCC8):c.584dup:p.Tyr195Ter	coding	Pathogenic
11	17463504	G	GA	G17463506A	ABCC8	NM_000352.6(ABCC8):c.512dup:p.Thr172fs	coding	Pathogenic
11	17493912	C	CTGTT	A17493914G	USH1C	NM_153676.4(USH1C):c.*419_*420insAACA	noncoding	Benign
11	17495834	CAT	C	A17495835G	USH1C	NM_153676.4(USH1C):c.2547-159_2547-158del	noncoding	Benign
11	17501104	A	AT	G17501106T	USH1C	NM_153676.4(USH1C):c.2326dup:p.Ile776fs	coding	Pathogenic/Likely_pathogenic
11	17517464	TC	T	C17517467T	USH1C	NM_153676.4(USH1C):c.1211-1175del	coding	Pathogenic
11	17520946	CCA	C	C17520947G	USH1C	NM_153676.4(USH1C):c.1132_1133del:p.Trp378fs	coding	Pathogenic
11	17523238	GCTGCGGCT	G	C17523239A	USH1C	NM_153676.4(USH1C):c.841_848del:p.Ser281fs	coding	Pathogenic/Likely_pathogenic
11	17526854	CG	C	G17526855T	USH1C	NM_153676.4(USH1C):c.522-45del	noncoding	Benign
11	17527041	CT	C	T17527042G	USH1C	NM_153676.4(USH1C):c.497-2del	noncoding	Pathogenic
11	17527226	TCA	T	A17527228T	USH1C	NM_153676.4(USH1C):c.491_492del:p.Val164fs	coding	Pathogenic/Likely_pathogenic
11	17531277	CA	C	A17531278C	USH1C	NM_153676.4(USH1C):c.263del:p.Val88fs	coding	Pathogenic
11	17531408	C	CG	T17531415G	USH1C	NM_005709.3(USH1C):c.238dupC:p.Arg80Profs	coding	Pathogenic
11	17531455	CG	C	G17531457C	USH1C	NM_153676.4(USH1C):c.191del:p.Pro64fs	coding	Pathogenic
11	17553406	TG	T	G17553411C	OTOG	NM_001292063.2(OTOG):c.432del:p.Gln145fs	coding	Pathogenic
11	17553476	TG	T	G17553478T	OTOG	NM_001292063.1(OTOG):c.499del:p.Val167fs	coding	Pathogenic/Likely_pathogenic
11	17610768	GC	G	C17610772A	OTOG	NM_001277269.1(OTOG):c.5508del:p.Ala1838fs	coding	Pathogenic
11	17633805	TG	T	G17633806C	OTOG	NM_001277269.1(OTOG):c.7235del:p.Cys2412fs	coding	Pathogenic
11	17720334	G	GC	G17720340C	MYOD1	NM_002478.5(MYOD1):c.557dup:p.Arg188fs	coding	Pathogenic
11	18269807	CAA	C	A18269809G	SAA1	NM_199161.5(SAA1):c.323_324del:p.Lys108fs	coding	Benign
11	18282180	AAGG	A	G18282183A	HPS5	NM_007216.4(HPS5):c.2754_2756del:p.Leu919del	coding	Pathogenic
11	18283870	CCAAA	C	A18283873G	HPS5	NM_007216.4(HPS5):c.2637_2640del:p.Cys879fs	coding	Pathogenic
11	18285367	G	GTC	A18285370T	HPS5	NM_007216.4(HPS5):c.2586_2587dup:p.Thr863fs	coding	Pathogenic
11	18286676	ACT	A	C18286679G	HPS5	NM_007216.4(HPS5):c.2406_2407AG[1]:p.Glu803fs	coding	Pathogenic
11	18287627	CA	C	A18287631T	HPS5	NM_007216.4(HPS5):c.2282del:p.Leu761fs	coding	Pathogenic
11	18291852	TTAAC	T	C18291856T	HPS5	NM_007216.4(HPS5):c.1684_1687del:p.Val562fs	coding	Pathogenic
11	18291981	TC	T	C18291982G	HPS5	NM_007216.4(HPS5):c.1558del:p.Glu520fs	coding	Pathogenic
11	18305438	T	TG	A18305443G	HPS5	NM_007216.4(HPS5):c.537dup:p.Lys180fs	coding	Pathogenic
11	18306136	TGAGAG	T	G18306137T	HPS5	NM_007216.4(HPS5):c.476_480del:p.Thr159fs	coding	Pathogenic
11	18309013	AC	A	C18309014T	HPS5	NM_007216.4(HPS5):c.201del:p.Gln67fs	coding	Pathogenic
11	18317751	CT	C	T18317754A	HPS5	NM_181507.1(HPS5):c.107del:p.Lys36fs	coding	Pathogenic
11	18405839	TAAAC	T	A18405840T	LDHA	NM_005566.4(LDHA):c.834+268_834+271del	noncoding	Benign
11	18407090	A	AT	C18407103T	LDHA	NM_005566.4(LDHA):c.835-15dup	noncoding	Benign
11	18407090	A	ATT	C18407103T	LDHA	NM_005566.4(LDHA):c.835-16_835-15dup	noncoding	Benign
11	18407090	A	ATTT	C18407103T	LDHA	NM_005566.4(LDHA):c.835-17_835-15dup	noncoding	Benign
11	18407090	A	ATTTT	C18407103T	LDHA	NM_005566.4(LDHA):c.835-18_835-15dup	noncoding	Benign
11	19188253	TCCGA	CCCCT	T19188253C	CSRP3	NM_003476.5(CSRP3):c.160_164delinsAGGGG:p.Ser54_Glu55delinsArgGly	coding	Pathogenic
11	19188293	T	TCC	T19188296C	CSRP3	NM_003476.5(CSRP3):c.122_123dup:p.Lys42fs	coding	Pathogenic
11	20601443	GC	G	C20601448T	SLC6A5	NM_004211.5(SLC6A5):c.323del:p.Pro108fs	coding	Pathogenic
11	20626741	G	TT	G20626741T	SLC6A5	NM_004211.5(SLC6A5):c.1294delinsTT:p.Val432fs	coding	Pathogenic
11	20628013	TC	T	C20628014T	SLC6A5	NM_004211.5(SLC6A5):c.1430del:p.Ser477fs	coding	Pathogenic
11	22193331	A	AAGGAGGAGGGGAATGAGGAGGAGG	C22193338A	ANO5	NM_213599.2(ANO5):c.-156_-155insAGGGGAATGAGGAGGAGGAGGAGG	noncoding	Benign
11	22211278	CAG	C	G22211284C	ANO5	NM_213599.2(ANO5):c.104_105GA[2]:p.Glu36fs	coding	Pathogenic
11	22218244	AG	A	G22218245C	ANO5	NM_213599.2(ANO5):c.139-1del	noncoding	Pathogenic/Likely_pathogenic
11	22221100	C	CA	T22221108A	ANO5	NM_001142649.2(ANO5):c.188dup:p.Asn63fs	coding	Pathogenic/Likely_pathogenic
11	22221109	CAGCAA	C	C22221117A	ANO5	NM_213599.2(ANO5):c.196_200CAAAG[1]:p.Ser67fs	coding	Pathogenic
11	22225987	AG	A	G22225988A	ANO5	NM_213599.2(ANO5):c.299del:p.Arg100fs	coding	Pathogenic
11	22225988	GAAGAA	G	A22225993G	ANO5	NM_213599.2(ANO5):c.304_308del:p.Lys102fs	coding	Pathogenic
11	22225991	GA	G	A22225995G	ANO5	NM_213599.2(ANO5):c.306del:p.Glu103fs	coding	Pathogenic
11	22227286	C	CT	A22227295T	ANO5	NM_213599.3(ANO5):c.364-8dup	noncoding	Benign
11	22227286	CT	C	T22227294A	ANO5	NM_213599.2(ANO5):c.364-8del	noncoding	Benign/Likely_benign
11	22239676	CTTGA	C	G22239679A	ANO5	NM_213599.2(ANO5):c.873_876del:p.Ile292fs	coding	Pathogenic
11	22250250	G	GA	T22250257A	ANO5	NM_213599.3(ANO5):c.898dup:p.Ile300fs	coding	Pathogenic
11	22250345	A	AT	A22250348T	ANO5	NM_001142649.2(ANO5):c.986dup:p.Leu329fs	coding	Pathogenic
11	22250986	CT	C	T22250989G	ANO5	NM_213599.2(ANO5):c.1158del:p.Phe386fs	coding	Pathogenic
11	22259623	CA	C	A22259627G	ANO5	NM_213599.2(ANO5):c.1516del:p.Ser506fs	coding	Pathogenic
11	22259627	AG	A	G22259628C	ANO5	NM_213599.3(ANO5):c.1517del:p.Ser506fs	coding	Pathogenic
11	22259629	CT	C	T22259631C	ANO5	NM_213599.2(ANO5):c.1520del:p.Phe507fs	coding	Pathogenic
11	22259733	C	CA	T22259739A	ANO5	NM_213599.2(ANO5):c.1627dup:p.Met543fs	coding	Pathogenic
11	22262116	TTTAACTTAACA	T	T22262117G	ANO5	NM_213599.2(ANO5):c.1631-12_1631-2del	noncoding	Pathogenic
11	22262232	T	TA	G22262236A	ANO5	NM_213599.2(ANO5):c.1737dup:p.Gly580fs	coding	Pathogenic
11	22270401	G	GT	G22270406T	ANO5	NM_213599.2(ANO5):c.1992dup:p.Gly665fs	coding	Pathogenic
11	22270405	T	TGGAC	C22270410G	ANO5	NM_213599.3(ANO5):c.1993_1996dup:p.Pro666fs	coding	Pathogenic
11	22270414	TG	T	G22270417C	ANO5	NM_213599.2(ANO5):c.2004del:p.Leu669fs	coding	Pathogenic
11	22272922	AAGCTCAT	A	T22272926A	ANO5	NM_213599.2(ANO5):c.2172_2178del:p.Ala724_His725insTer	coding	Pathogenic
11	22274548	C	CT	A22274560T	ANO5	NM_213599.3(ANO5):c.2236-10dup	noncoding	Benign
11	22274548	C	CTT	A22274560T	ANO5	NM_213599.2(ANO5):c.2236-11_2236-10dup	noncoding	Benign
11	22274548	CTTT	C	T22274557A	ANO5	NM_213599.3(ANO5):c.2236-12_2236-10del	noncoding	Benign
11	22274548	CTTTT	C	T22274556A	ANO5	NM_213599.2(ANO5):c.2236-13_2236-10del	noncoding	Benign/Likely_benign
11	22274639	CCA	C	C22274644G	ANO5	NM_001142649.2(ANO5):c.2304_2305CA[2]:p.Gln770fs	coding	Pathogenic
11	22276148	GC	G	C22276149A	ANO5	NM_213599.2(ANO5):c.2470del:p.Gln824fs	coding	Pathogenic/Likely_pathogenic
11	22279864	CT	C	T22279878C	ANO5	NM_213599.3(ANO5):c.*113del	noncoding	Benign
11	22625325	CAG	C	A22625330T	FANCF	NM_022725.4(FANCF):c.484_485del:p.Leu162fs	coding	Pathogenic
11	22625413	AGGCTCTCTTGGAGTGTCTCCTCATCGGCGTCCCGGACGCCCGGGCCG	A	C22625416A	FANCF	NM_022725.3(FANCF):c.349_395del	coding	Pathogenic
11	22625558	CCTGGAAGTTCGCTAATCCCGGAA	C	A22625564C	FANCF	NM_022725.3(FANCF):c.230_252del:p.Val77fs	coding	Pathogenic
11	22625591	GC	G	C22625594A	FANCF	NM_022725.4(FANCF):c.219del:p.Arg74fs	coding	Pathogenic
11	22625687	G	GC	A22625689C	FANCF	NM_022725.4(FANCF):c.123dup:p.Arg42fs	coding	Pathogenic
11	22625726	CG	C	G22625730T	FANCF	NM_022725.4(FANCF):c.84del:p.Ala29fs	coding	Pathogenic
11	26553241	TTC	T	T26553244A	ANO3	NM_031418.4(ANO3):c.1290-5_1290-4del	noncoding	Benign
11	30233644	AGT	A	T30233646A	FSHB	NM_000510.3(FSHB):c.236_237del:p.Val79fs	coding	Pathogenic/Likely_pathogenic
11	31786196	CTG	C	T31786197C	PAX6	NM_019040.5(ELP4):c.*2673_*2674del	noncoding	Benign
11	31786687	T	TAAAA	G31786689A	PAX6	NM_019040.5(ELP4):c.*3164_*3165insAAAA	noncoding	Benign
11	31787037	A	AAAAT	T31787042A	PAX6	NM_019040.5(ELP4):c.*3514_*3517dup	noncoding	Benign
11	31789935	TACTGTAA	T	A31789936T	PAX6	NM_019040.5(ELP4):c.*6412_*6418del	coding	Pathogenic
11	31789935	T	TA	C31789937A	PAX6	NM_019040.5(ELP4):c.*6412dup	coding	Pathogenic
11	31789937	CTGTAATCTTGGCCA	TTTACTGT	C31789937T	PAX6	NM_019040.5(ELP4):c.*6413_*6427delinsTTTACTGT	coding	Pathogenic
11	31789940	TAATCTTGGCC	T	A31789942G	PAX6	NM_019040.5(ELP4):c.*6418_*6427del	coding	Pathogenic
11	31789960	A	ACATAT	G31789968T	PAX6	NM_019040.5(ELP4):c.*6439_*6443dup	coding	Pathogenic
11	31789962	A	AT	A31789964T	PAX6	NM_019040.5(ELP4):c.*6439dup	coding	Pathogenic
11	31789981	GAACTTGA	G	A31789983C	PAX6	NM_019040.5(ELP4):c.*6459_*6465del	coding	Pathogenic
11	31790723	GC	G	C31790726G	PAX6	NM_000280.4(PAX6):c.1169del:p.Gly390fs	coding	Pathogenic
11	31790729	GGTGC	G	G31790730C	PAX6	NM_000280.4(PAX6):c.1160_1163del:p.Gly387fs	coding	Pathogenic
11	31790815	TG	T	G31790818C	PAX6	NM_000280.4(PAX6):c.1077del:p.Thr360fs	coding	Pathogenic
11	31790822	CATGCAGGAGT	C	C31790826A	PAX6	NM_000280.4(PAX6):c.1061_1070del:p.Tyr354fs	coding	Pathogenic
11	31790828	G	GGAGTA	T31790834G	PAX6	NM_001368911.1(PAX6):c.1078-814_1078-810dup	coding	Pathogenic
11	31790839	AGGTCTGGCTGG	A	T31790842A	PAX6	NM_001368911.1(PAX6):c.1078-831_1078-821del	coding	Pathogenic
11	31790842	TCTGG	T	C31790847G	PAX6	NM_001368911.1(PAX6):c.1078-827_1078-824del	coding	Pathogenic
11	31790848	T	TG	A31790853G	PAX6	NM_000280.4(PAX6):c.1044dup:p.Ser349fs	coding	Pathogenic
11	31790853	AC	A	C31790854T	PAX6	NM_001368911.1(PAX6):c.1078-835del	coding	Pathogenic
11	31790855	TG	T	G31790860C	PAX6	NM_000280.4(PAX6):c.1037del:p.Pro346fs	coding	Pathogenic
11	31793447	C	CAGGTTATTTGCCA	T31793461A	PAX6	NM_000280.4(PAX6):c.1010_1022dup:p.Pro342_Met343insGlyLysTer	coding	Pathogenic
11	31793450	GTTAT	G	A31793453G	PAX6	NM_000280.4(PAX6):c.1016_1019del:p.Asn339fs	coding	Pathogenic
11	31793481	GGCAGAGC	G	A31793484T	PAX6	NM_001368894.2(PAX6):c.1024_1030del:p.Ala342fs	coding	Pathogenic
11	31793490	CTG	C	G31793492A	PAX6	NM_000280.4(PAX6):c.978_979del:p.Tyr326_Ser327delinsTer	coding	Pathogenic
11	31793502	GT	G	T31793503G	PAX6	NM_001368894.2(PAX6):c.1009del:p.Thr337fs	coding	Pathogenic
11	31793517	GT	G	T31793519C	PAX6	NM_000280.4(PAX6):c.952del:p.Thr318fs	coding	Pathogenic
11	31793543	GAA	G	A31793544G	PAX6	NM_000280.4(PAX6):c.925_926del:p.Phe309fs	coding	Pathogenic
11	31793658	TG	T	G31793660T	PAX6	NM_000280.4(PAX6):c.909del:p.Thr304fs	coding	Pathogenic
11	31793673	T	TTGGTTGGTAGACACTG	G31793690T	PAX6	NM_000280.4(PAX6):c.879_894dup:p.Ile299fs	coding	Pathogenic
11	31793688	TG	T	G31793690T	PAX6	NM_000280.4(PAX6):c.879del:p.Ser294fs	coding	Pathogenic
11	31793719	A	ACT	A31793722C	PAX6	NM_000280.4(PAX6):c.847_848dup:p.Ser283fs	coding	Pathogenic
11	31793742	TTC	T	C31793746G	PAX6	NM_000280.4(PAX6):c.822_823GA[1]:p.Arg275fs	coding	Pathogenic
11	31793754	TCA	T	C31793755G	PAX6	NM_000280.4(PAX6):c.812_813del:p.Leu271fs	coding	Pathogenic
11	31793763	CT	C	T31793765C	PAX6	NM_000280.4(PAX6):c.804del:p.Glu269fs	coding	Pathogenic
11	31793766	CT	C	T31793767C	PAX6	NM_000280.4(PAX6):c.801del:p.Glu268fs	coding	Pathogenic
11	31793775	A	AT	G31793779T	PAX6	NM_000280.4(PAX6):c.792dup:p.Trp265fs	coding	Pathogenic
11	31793775	AT	A	T31793778G	PAX6	NM_000280.4(PAX6):c.792del:p.Lys264fs	coding	Pathogenic
11	31793792	G	GA	C31793797A	PAX6	NM_000280.4(PAX6):c.775dup:p.Ser259fs	coding	Pathogenic
11	31794036	AT	A	T31794038C	PAX6	NM_000280.4(PAX6):c.760del:p.Ile254fs	coding	Pathogenic
11	31794084	AAC	A	C31794088T	PAX6	NM_000280.4(PAX6):c.709_710GT[1]:p.Phe238fs	coding	Pathogenic
11	31794673	ATTTC	A	C31794677G	PAX6	NM_000280.4(PAX6):c.635_638del:p.Arg212fs	coding	Pathogenic
11	31794721	TG	T	G31794722A	PAX6	NM_000280.4(PAX6):c.590del:p.Asp196_Ser197insTer	coding	Pathogenic
11	31794744	T	TG	A31794747G	PAX6	NM_001368930.1(PAX6):c.-37dup	coding	Pathogenic
11	31794760	TC	T	C31794765T	PAX6	NM_001368930.1(PAX6):c.-53del	coding	Pathogenic
11	31794775	T	TG	T31794776G	PAX6	NM_000280.4(PAX6):c.536_537insC:p.Gln179fs	coding	Pathogenic
11	31794784	GC	G	C31794786A	PAX6	NM_000280.4(PAX6):c.527del:p.Gly176fs	coding	Pathogenic
11	31794786	CATCTGGAACAAAAAGA	C	C31794789A	PAX6	NM_000280.4(PAX6):c.524-14_525del	coding	Pathogenic
11	31800610	AGAGGAAATGGTTGGGAGAGTAGGGGACAGGCAAAGGGATGCACATATGGAGAGCTGCGTGGATGGCTGCTTGGGTTTTACCTTGCGTAGGTTGCCCTGGCACCGAAGTCCCCGGATACCAACCAGGGCGGGTGCCCCAGCTTCCGGTCTGCCCGTTCAACATCCTTAGTTTATCATACATGCCGTCTGCGCCCATCTGTTGCTTTTCGCTAGCCAGGTTGCGAAGAACTCTGTTTATTGATGACACCTGCAAATCAAACCAAAATCAAACCAAATGGTAGTGTCTCCTGAAGACACAGTCACCCATCTCAGCTCACCCACAACCTTAAAAAGCAACTCTCAACCCGTTAAAAAGCTCCCAGCCACCCCGGGACAGTGGGTGGATTTGCAGATACACCGTGGAAAAAATGATAGCTATCACTTTGGGCATGGAAATTTAGTTGGATAGAGAATTGGGCGGAGGGGGTCCTTCACCATTGCTTGGTGTCTCTGGTGACCTAACTCACACGGTTGCTTTGCTTTGTTAAAAGACTGCCCGAAAATAAAAACTATTTAGACTTGTTGTAAAGCTTTCTTTCATTATATTGTTTAATATTAGGATGGAAATGGATGTGTGACACCTGAAGGAAAGTTCTGGCAGGTGGATTAGGACGAAGTTACAATCTGGTTCTCATTTTCCTTCTTCATTCAAGTGCCTTTCCCTGGTGCCTCCGCCCTCTGTTTTGCAGCATGCAAATGAAGTGAATGACTCCCCACACTTGACTCCCATTTTCCAGACAGTCAAAGAAAAGTCAGGGCATTCCTCTCTGTTCCCCCAGGTACAAAGGAGACAAATGTGGAGCAGGGAGAGGACACAGACTAAGAGACAGTGGAGAGAGAGGGTGGGAGGAGGTAAAGAGGAGAGAGCATTGGGCTTAGGGCAGGGAGGGCAGATGTTCTCAATGAACTTACGCTTGGTATGTTATCGTTGGTACAGACCCCCTCGGACAGTAATCTGTCTCGGATTTCCCAAGCAAAGATGGACGGGCACTCCCGCTTATACTGGGCTATTTTGCTTACAACTTCTGGAGTCGCTACTCTCGGTTTACTACCACCGATTGCCCTGGGTCTGATGGAGCCAGTCTCGTAATACCTGCCCAGAATTTTACTCACACATCCGTTGGACACCTGCATAGGGGAAGTGGACAGAAAACCACATTATTAATAATTTCAAGACAAAAATAAAATTGTTTAAGTATGCATTAAACAATGACAAGCTTACGTTTTGATTGTCCAGCACTTGGACTTTTGCATCTGCATGGGTCTATAACACAAAAATATACCTTCAATGGTATGAGAACTTACTGTAGAGAGCTTTTTTTCTTAAAATTACATTTGTAGCCCTAAAAACTACAAATATGATGATACTTTCAAACAATTTGAACTAAAAAACGAATTTAAAAGCTTTTTTTAAAAAAAAAACTTTTCTTAAACACTGCCTGAAGATGCATCAAAACGAAGTAGATAAATTTATTTTTGTGCTGACCTTGCTTAAAGTGGCGTTATGTTTTAAAGAACAAAGGTAAAAAATAAACTGATTTTTTTACTTCTTCTTCTTTAAAAAATACTCAATTGAGTAAATGTGAGTTAGGGAGGAGTAAATAGCATTTGCCTTTTAAAATCAATATATATTATTCATAAACATGAAGAATAAACAAATACCTCAAAAGCTGAGGTAAGCATGGGCTGGGGAGAGCAGAATGAAATTATGCCGGTTTATATAACTCAGCTTATTACGGTTCATAAACTGTTCCCACAATGAATGTCTTTACCAAATAAAAAGAGAAAGATTTTTTTAAAAAAATCCGCACACAATATTTTTCTGAAGCAGATGAGTTATCTTATGTAACTGACCCAGGTTGAAAGAGATAGGGAAGGATGGTGGAAGGAGAGGGGAAAGTGGGAAGGCAGGGGAGTGGGTGGGGGGACTGGGGACTGGGGTGGGTGAGGGTGGGGGGGTCCATAATTAGCATCGTTTACAGTAAGAAATGAAGAGAGGGCGTTGAGAGTGGAGGGCCGCGGGGGCGGCGAGTGGGGCGGCGCCGGGAGGATCACCTGCAGAATTCGGGAAATGTCGCACGGCCGGGCCCCGCTGTGAGCTAGCTCTACAATCTTCTGCCGGGTGGAGTCCGGCAGTGGCCGCCCGTTGACAAAGACACCACCGAGCTGATTCACTCCGCTGTGACCTGAGGAAAGGGAGAGGAGAGGAAAGGGGAAAAGAAGAGAAGAGAGCAGAGTGAAGAGGAAGAAGAGGGAGAAGAAGGAAGAGGAAGATGAGGGAGAACAAGAACAGAAAGGAGAGGAGGAAGGGGAAGAGGAAGAAGGAGAGGAGGAGGAGACAACCACAATGCATCCTCATCCCCCTGCCAACCTGTGCCAACCTCGGCGGTCAGTTCCCTGCTAT	A	G31800611C	PAX6	NM_001368894.2(PAX6):c.11-218_565+80del	noncoding	Pathogenic
11	31800718	TC	T	C31800722G	PAX6	NM_000280.4(PAX6):c.495del:p.Thr166fs	coding	Pathogenic
11	31800719	CCCCGG	C	C31800720A	PAX6	NM_001368894.2(PAX6):c.532_536del:p.Pro178fs	coding	Pathogenic
11	31800722	CG	C	G31800724A	PAX6	NM_000280.4(PAX6):c.491del:p.Pro164fs	coding	Pathogenic
11	31800731	AC	A	C31800733A	PAX6	NM_000280.4(PAX6):c.482del:p.Gly161fs	coding	Pathogenic
11	31800738	CG	C	G31800741T	PAX6	NM_000280.4(PAX6):c.475del:p.Arg159fs	coding	Pathogenic
11	31800743	GC	G	C31800747A	PAX6	NM_000280.4(PAX6):c.470del:p.Gly157fs	coding	Pathogenic
11	31800743	G	GT	C31800744T	PAX6	NM_000280.4(PAX6):c.470_471insA:p.Thr158fs	coding	Pathogenic
11	31800760	GC	AA	G31800760A	PAX6	NM_000280.4(PAX6):c.453_454delinsTT:p.Gln152Ter	coding	Pathogenic
11	31800761	CCCGT	GTTCCGG	C31800761G	PAX6	NM_000280.4(PAX6):c.449_453delinsCCGGAAC:p.Asn150fs	coding	Pathogenic
11	31800812	CT	C	T31800816C	PAX6	NM_001310160.1(PAX6):c.-8del	coding	Pathogenic
11	31800837	ACT	A	C31800840G	PAX6	NM_001310160.1(PAX6):c.-36_-35AG[1]	coding	Pathogenic
11	31800840	C	CT	G31800842T	PAX6	NM_000280.4(PAX6):c.373dup:p.Arg125fs	coding	Pathogenic
11	31800840	CTGTTTAT	C	T31800843A	PAX6	NM_001310160.1(PAX6):c.-42_-36del	coding	Pathogenic
11	31800842	GT	G	T31800845A	PAX6	NM_000280.4(PAX6):c.371del:p.Asn124fs	coding	Pathogenic
11	31800855	AC	A	C31800857T	PAX6	NM_000280.4(PAX6):c.358delG	coding	Pathogenic
11	31801555	ACTTACG	A	A31801559G	PAX6	NM_000280.4(PAX6):c.357_357+5del	coding	Pathogenic
11	31801558	T	TA	C31801560A	PAX6	NM_000280.4(PAX6):c.357+2dup	coding	Pathogenic
11	31801564	TG	T	G31801566T	PAX6	NM_001310160.1(PAX6):c.-387del	coding	Pathogenic
11	31801566	G	GTATGTTA	C31801575A	PAX6	NM_001368894.2(PAX6):c.387_393dup:p.Pro132Ter	coding	Pathogenic
11	31801582	ACAGAC	A	A31801584C	PAX6	NM_001310160.1(PAX6):c.-409_-405del	coding	Pathogenic
11	31801586	A	ACC	T31801592C	PAX6	NM_000280.4(PAX6):c.330_331dup:p.Val111fs	coding	Pathogenic
11	31801586	A	AC	T31801592C	PAX6	NM_000280.4(PAX6):c.331dup:p.Val111fs	coding	Pathogenic
11	31801586	AC	A	C31801591T	PAX6	NM_000280.4(PAX6):c.331del:p.Val111fs	coding	Pathogenic
11	31801592	TC	CTG	T31801592C	PAX6	NM_000280.4(PAX6):c.325_326delinsCAG:p.Glu109fs	coding	Pathogenic
11	31801592	TC	T	C31801593G	PAX6	NM_000280.4(PAX6):c.325del:p.Glu109fs	coding	Pathogenic
11	31801601	A	AT	A31801602T	PAX6	NM_000280.4(PAX6):c.316_317insA:p.Leu106fs	coding	Pathogenic
11	31801620	AAGCAA	TGAAC	A31801620T	PAX6	NM_001310160.1(PAX6):c.-447_-442delinsGTTCA	coding	Pathogenic
11	31801622	GCAAAGATGGA	G	A31801624G	PAX6	NM_000280.4(PAX6):c.286_295del:p.Ser96fs	coding	Pathogenic
11	31801623	C	CAAAG	T31801629A	PAX6	NM_001310160.1(PAX6):c.-449_-446dup	coding	Pathogenic
11	31801636	GC	G	C31801637A	PAX6	NM_000280.4(PAX6):c.281del:p.Cys94fs	coding	Pathogenic
11	31801638	AC	A	C31801639T	PAX6	NM_001310160.1(PAX6):c.-461del	coding	Pathogenic
11	31801658	AT	A	T31801662G	PAX6	NM_000280.4(PAX6):c.259del:p.Lys86_Ile87insTer	coding	Pathogenic
11	31801671	C	CT	C31801674T	PAX6	NM_000280.4(PAX6):c.246dup:p.Val83fs	coding	Pathogenic
11	31801676	G	GGAGT	C31801681G	PAX6	NM_001310160.1(PAX6):c.-502_-499dup	coding	Pathogenic
11	31801713	T	TG	T31801717G	PAX6	NM_000280.4(PAX6):c.204dup:p.Arg69fs	coding	Pathogenic
11	31801722	TGGAGCCA	T	G31801724T	PAX6	NM_000280.4(PAX6):c.189_195del:p.Gly64fs	coding	Pathogenic
11	31801751	AT	A	T31801755A	PAX6	NM_000280.4(PAX6):c.166del:p.Ile56fs	coding	Pathogenic
11	31801755	TACTC	T	T31801758A	PAX6	NM_001310160.1(PAX6):c.-581_-578del	coding	Pathogenic
11	31801758	TCA	T	C31801763T	PAX6	NM_001310160.1(PAX6):c.-586_-585TG[2]	coding	Pathogenic
11	31801764	A	ATCCGTTGGACACC	G31801779C	PAX6	NM_000280.4(PAX6):c.142-1_153dup	coding	Pathogenic
11	31801963	CT	C	T31801970C	PAX6	NM_000280.4(PAX6):c.142-188del	noncoding	Benign
11	31802699	ATCACCTGCAGAAT	A	A31802702G	PAX6	NM_000280.4(PAX6):c.133_141+4del	noncoding	Pathogenic
11	31802719	AA	G	A31802719G	PAX6	NM_001310160.1(PAX6):c.-657_-656delinsC	coding	Pathogenic
11	31802723	TCGCACGGC	T	C31802726G	PAX6	NM_001310160.1(PAX6):c.-668_-661del	coding	Pathogenic
11	31802723	TC	T	C31802724G	PAX6	NM_000280.4(PAX6):c.121del:p.Asp41fs	coding	Pathogenic
11	31802728	C	CGG	C31802731G	PAX6	NM_000280.4(PAX6):c.115_116dup:p.Cys40fs	coding	Pathogenic
11	31802730	G	GCC	G31802733C	PAX6	NM_000280.4(PAX6):c.113_114dup:p.Pro39fs	coding	Pathogenic
11	31802730	G	GCCGGGCCC	G31802740C	PAX6	NM_000280.4(PAX6):c.107_114dup:p.Pro39fs	coding	Pathogenic
11	31802730	G	GC	G31802733C	PAX6	NM_000280.4(PAX6):c.114dup:p.Pro39fs	coding	Pathogenic
11	31802732	CG	C	G31802735C	PAX6	NM_000280.4(PAX6):c.112del:p.Arg38fs	coding	Pathogenic
11	31802734	G	TGTGAGCTA	G31802734T	PAX6	NM_001310160.1(PAX6):c.-671delinsTAGCTCACA	coding	Pathogenic
11	31802735	GC	G	C31802739G	PAX6	NM_000280.4(PAX6):c.109del:p.Ala37fs	coding	Pathogenic
11	31802735	G	GC	G31802740C	PAX6	NM_000280.4(PAX6):c.109dup:p.Ala37fs	coding	Pathogenic
11	31802739	CGCTG	GGTT	C31802739G	PAX6	NM_001310160.1(PAX6):c.-680_-676delinsAACC	coding	Pathogenic
11	31802766	GC	G	C31802768G	PAX6	NM_001310160.1(PAX6):c.-704del	coding	Pathogenic
11	31802769	GGGTGGAGTCC	G	T31802772C	PAX6	NM_000280.4(PAX6):c.66_75del:p.Asp23fs	coding	Pathogenic
11	31802779	C	CGGCA	T31802785G	PAX6	NM_000280.4(PAX6):c.62_65dup:p.Asp23fs	coding	Pathogenic
11	31802782	CA	C	A31802783G	PAX6	NM_000280.4(PAX6):c.62del:p.Leu21fs	coding	Pathogenic
11	31802787	GCCGCCCGTTGA	G	C31802789A	PAX6	NM_000280.4(PAX6):c.47_57del:p.Val16fs	coding	Pathogenic
11	31802798	AC	A	C31802799A	PAX6	NM_001310160.1(PAX6):c.-736del	coding	Pathogenic
11	31802809	AC	A	C31802811G	PAX6	NM_001310160.1(PAX6):c.-747del	coding	Pathogenic
11	31806407	TG	T	G31806408C	PAX6	NM_000280.4(PAX6):c.4del:p.Gln2fs	coding	Pathogenic
11	31806843	AC	A	C31806844T	PAX6	NM_000280.4(PAX6):c.-52+5del	noncoding	Pathogenic
11	31806843	ACTT	CA	A31806843C	PAX6	NM_000280.4(PAX6):c.-52+3_-52+6delinsTG	noncoding	Pathogenic
11	31806844	CTT	C	T31806845G	PAX6	NM_000280.4(PAX6):c.-52+3_-52+4del	noncoding	Pathogenic
11	31806926	CT	C	T31806927A	PAX6	NM_000280.4(PAX6):c.-128-2del	noncoding	Pathogenic
11	31810824	TCACCTTTATGAGG	T	C31810827T	PAX6	NM_000280.4(PAX6):c.-138_-129+3del	noncoding	Pathogenic
11	32388008	AC	A	C32388009A	WT1	NM_024426.6(WT1):c.*1049del	noncoding	Benign
11	32388079	A	AT	C32388087T	WT1	NM_024426.6(WT1):c.*978dup	noncoding	Benign
11	32396371	CA	C	A32396373G	WT1	NM_024426.6(WT1):c.1149del:p.Val384fs	coding	Pathogenic
11	32399966	AC	A	C32399968G	WT1	NM_024426.6(WT1):c.1094del:p.Gly365fs	coding	Pathogenic
11	32399999	GA	G	A32400000G	WT1	NM_024426.6(WT1):c.1061del:p.Leu354fs	coding	Pathogenic
11	32417632	ATGTCATTTGGTATAAAT	A	T32417638C	WT1	NM_024426.6(WT1):c.893_909del:p.Asn298fs	coding	Pathogenic
11	32417644	AT	A	T32417645A	WT1	NM_024426.6(WT1):c.897del:p.Leu299fs	coding	Pathogenic
11	32427960	TGTA	T	T32427962G	WT1	NM_024426.6(WT1):c.880_882del:p.Tyr294del	coding	Pathogenic
11	32428030	CG	C	G32428035C	WT1	NM_024426.6(WT1):c.812del:p.Pro271fs	coding	Pathogenic
11	32428591	CG	C	G32428592T	WT1	NM_024426.6(WT1):c.689del:p.Thr230fs	coding	Pathogenic
11	32428598	T	TC	G32428600C	WT1	NM_024426.6(WT1):c.682dup:p.Asp228fs	coding	Pathogenic
11	32430545	AGC	A	G32430546C	WT1	NM_024426.6(WT1):c.662-1928_662-1927del	coding	Benign
11	32434707	GC	G	C32434708G	WT1	NM_024426.6(WT1):c.653del:p.Arg218fs	coding	Pathogenic
11	32434768	GC	G	C32434770T	WT1	NM_024426.6(WT1):c.592del:p.Ala198fs	coding	Pathogenic
11	32434804	CCGAAGGGCCCGTAG	C	A32434808C	WT1	NM_024426.6(WT1):c.543_556del:p.Tyr182fs	coding	Pathogenic
11	32435026	TC	T	C32435028A	WT1	NM_024426.6(WT1):c.334del:p.Asp112fs	coding	Pathogenic
11	33717392	AT	A	T33717393C	CD59	NM_203330.2(CD59):c.146del:p.Asp49fs	coding	Pathogenic
11	34452084	AT	A	T34452085C	CAT	NM_001752.4(CAT):c.358del:p.Ser120fs	coding	Pathogenic
11	34916524	GGGC	G	C34916527G	PDHX	NM_001135024.1(PDHX):c.115+41_115+43del	coding	Benign
11	34916741	TGAAG	T	A34916743G	PDHX	NM_003477.3(PDHX):c.88_91del:p.Lys30fs	coding	Pathogenic
11	34960494	GC	G	C34960497T	PDHX	NM_003477.3(PDHX):c.620del:p.Pro207fs	coding	Pathogenic
11	34966704	G	GC	A34966710C	PDHX	NM_003477.3(PDHX):c.711dup:p.Thr238fs	coding	Pathogenic
11	34966789	C	CA	C34966792A	PDHX	NM_003477.3(PDHX):c.793dup:p.Thr265fs	coding	Pathogenic
11	34978123	GATGACATTAAAGTATCAGTAAATGATTTTATCATCAAGGCAGCAGCTGTTACCCTTAAA	G	A34978124G	PDHX	NM_003477.3(PDHX):c.965_1023del:p.Asp322fs	coding	Pathogenic
11	36573559	TAA	T	A36573560G	RAG1	NM_000448.2(RAG1):c.256_257del:p.Lys86fs	coding	Pathogenic
11	36573659	AGAGCTGAT	A	T36573664A	RAG1	NM_000448.3(RAG1):c.360_367del:p.Asp121fs	coding	Pathogenic
11	36574049	C	CA	C36574051A	RAG1	NM_000448.3(RAG1):c.746dup:p.His249fs	coding	Pathogenic
11	36574078	CA	C	A36574079G	RAG1	NM_000448.2(RAG1):c.775del:p.Ser259fs	coding	Pathogenic
11	36574270	AG	A	G36574271T	RAG1	NM_000448.3(RAG1):c.967del:p.Val323fs	coding	Pathogenic
11	36574288	TC	T	C36574291T	RAG1	NM_000448.2(RAG1):c.987del:p.Ser330fs	coding	Pathogenic
11	36574352	GTCTTGAATTCCCTGATGGTGAAATGTC	AAAAGAGTG	G36574352A	RAG1	NM_000448.3(RAG1):c.1048_1075delinsAAAAGAGTG:p.Val350fs	coding	Pathogenic
11	36574924	GC	G	C36574925T	RAG1	NM_000448.2(RAG1):c.1621del:p.Leu541fs	coding	Pathogenic
11	36593108	TCATCTTCAGCA	T	C36593112T	RAG2	NM_000536.4(RAG2):c.1050_1060del:p.Cys350_Asp354delinsTer	coding	Pathogenic
11	36593530	A	AT	G36593536T	RAG2	NM_000536.4(RAG2):c.638dup:p.Asn213fs	coding	Pathogenic
11	36593779	TACCAA	T	A36593780G	RAG2	NM_000536.4(RAG2):c.385_389del:p.Leu129fs	coding	Pathogenic
11	36593875	TG	T	G36593876T	RAG2	NM_000536.4(RAG2):c.293del:p.Thr98fs	coding	Pathogenic
11	36593925	CT	C	T36593928G	RAG2	NM_000536.4(RAG2):c.243del:p.Gly82fs	coding	Pathogenic
11	44107766	GA	G	A44107768G	EXT2	NM_000401.3(EXT2):c.155del:p.Lys52fs	coding	Pathogenic
11	44107796	CCT	C	C44107799T	EXT2	NM_000401.3(EXT2):c.184_185CT[1]:p.Phe63fs	coding	Pathogenic
11	44107841	TC	GT	T44107841G	EXT2	NM_207122.2(EXT2):c.129_130delinsGT:p.Phe43_Gln44delinsLeuTer	coding	Pathogenic
11	44107914	GTTGTTAGGCTGCCAGCCGACAGTCCCATCCCAGAGCGGGGGGATCTCAGTTGCAGA	G	T44107915A	EXT2	NM_207122.2(EXT2):c.203_258del:p.Val68fs	coding	Pathogenic
11	44107922	GC	G	C44107923T	EXT2	NM_207122.2(EXT2):c.211del:p.Leu71fs	coding	Pathogenic
11	44107950	CG	C	G44107956A	EXT2	NM_000401.3(EXT2):c.343del:p.Asp115fs	coding	Pathogenic
11	44107956	G	GA	T44107958A	EXT2	NM_000401.3(EXT2):c.344dup:p.Asp115fs	coding	Pathogenic
11	44107964	TTGCAGAA	T	G44107969C	EXT2	NM_207122.2(EXT2):c.257_263del:p.Arg86fs	coding	Pathogenic
11	44108024	CA	C	A44108026G	EXT2	NM_207122.2(EXT2):c.314del:p.Lys105fs	coding	Pathogenic
11	44108070	GTC	G	C44108074G	EXT2	NM_000401.3(EXT2):c.459_460CT[1]:p.Ser154fs	coding	Pathogenic
11	44108109	C	CTGCT	C44108114T	EXT2	NM_000401.3(EXT2):c.497_500dup:p.Met168fs	coding	Pathogenic
11	44108153	CAACCGGGCCTGTCT	C	A44108154G	EXT2	NM_207122.2(EXT2):c.442_455del:p.Asn148fs	coding	Pathogenic
11	44108161	CCTGT	C	C44108166T	EXT2	NM_000401.3(EXT2):c.549_552CTGT[1]:p.Val187fs	coding	Pathogenic
11	44108166	CTGTT	C	T44108171C	EXT2	NM_207122.2(EXT2):c.455_458TGTT[1]:p.Val154fs	coding	Pathogenic
11	44108192	TA	T	A44108194C	EXT2	NM_207122.2(EXT2):c.482del:p.Asn161fs	coding	Pathogenic
11	44108192	T	TAA	C44108195A	EXT2	NM_207122.2(EXT2):c.481_482dup:p.Asn161fs	coding	Pathogenic
11	44109242	TC	T	C44109247A	EXT2	NM_207122.2(EXT2):c.590del:p.Pro197fs	coding	Pathogenic
11	44109255	AAC	A	C44109259G	EXT2	NM_207122.2(EXT2):c.600_601CA[1]:p.Thr201fs	coding	Pathogenic
11	44109281	CAGGT	C	T44109285A	EXT2	NM_207122.2(EXT2):c.626+2_626+5del	coding	Pathogenic
11	44124824	GTC	G	T44124827C	EXT2	NM_207122.2(EXT2):c.780_781TC[1]:p.Leu261fs	coding	Pathogenic
11	44124829	C	CA	T44124831A	EXT2	NM_000401.3(EXT2):c.884dup:p.His295fs	coding	Pathogenic
11	44124950	A	AGC	A44124953G	EXT2	NM_000401.3(EXT2):c.1005_1006dup:p.His336fs	coding	Pathogenic
11	44124956	AG	A	G44124958T	EXT2	NM_207122.2(EXT2):c.913del:p.Val305fs	coding	Pathogenic
11	44126824	TTTCTGTGTGGTTC	T	T44126828G	EXT2	NM_207122.2(EXT2):c.952_964del:p.Cys318fs	coding	Pathogenic
11	44126827	CTG	C	T44126832G	EXT2	NM_000401.3(EXT2):c.1051_1052TG[2]:p.Val352fs	coding	Pathogenic
11	44126834	GT	G	T44126836C	EXT2	NM_207122.2(EXT2):c.960del:p.Leu321fs	coding	Pathogenic
11	44126898	CG	C	G44126900T	EXT2	NM_207122.2(EXT2):c.1024del:p.Val342fs	coding	Pathogenic
11	44126906	AT	A	T44126908G	EXT2	NM_207122.2(EXT2):c.1032del:p.Ile344fs	coding	Pathogenic
11	44130088	AGT	A	G44130089A	EXT2	NM_207122.2(EXT2):c.1124_1125del:p.Ser375fs	coding	Pathogenic
11	44130130	CAG	C	G44130134C	EXT2	NM_207122.2(EXT2):c.1169_1170del:p.Arg390fs	coding	Pathogenic
11	44171614	CG	C	G44171616T	EXT2	NM_207122.2(EXT2):c.1179del:p.Trp394fs	coding	Pathogenic
11	44171623	T	TG	A44171627G	EXT2	NM_207122.2(EXT2):c.1189dup:p.Glu397fs	coding	Pathogenic
11	44171696	C	CAT	G44171701A	EXT2	NM_207122.2(EXT2):c.1260_1261AT[3]:p.Ala422fs	coding	Pathogenic
11	44206923	T	TA	T44206925A	EXT2	NM_207122.2(EXT2):c.1627dup:p.Met543fs	coding	Pathogenic
11	44232500	AG	A	G44232505C	EXT2	NM_000401.3(EXT2):c.1905+9del	noncoding	Benign
11	44234235	GT	G	T44234237A	EXT2	NM_000401.3(EXT2):c.2028del:p.Ile677fs	coding	Pathogenic
11	44265105	GCACCGGGTC	AGTTGCCATCTCTGTTGAGATCTTAG	G44265105A	ALX4	NM_021926.4(ALX4):c.976_985delinsCTAAGATCTCAACAGAGATGGCAACT:p.Asp326fs	coding	Pathogenic
11	44275620	CA	C	A44275621G	ALX4	NM_021926.4(ALX4):c.504del:p.Asp169fs	coding	Pathogenic
11	44275621	AG	A	G44275626T	ALX4	NM_021926.4(ALX4):c.503del:p.Pro168fs	coding	Pathogenic
11	44309668	GGCGTCTTGCA	G	C44309670G	ALX4	NM_021926.4(ALX4):c.385_394del:p.Cys129fs	coding	Pathogenic
11	44309737	TGCTGCGGCTGCG	T	T44309746G	ALX4	NM_021926.4(ALX4):c.308_313CGCAGC[1]:p.103_104PQ[1]	coding	Benign
11	44309771	GC	G	C44309772G	ALX4	NM_021926.4(ALX4):c.291del:p.Gln98fs	coding	Pathogenic
11	45806166	TG	T	G45806168T	SLC35C1	NM_018389.5(SLC35C1):c.367del:p.Val123fs	coding	Pathogenic
11	45910280	TC	T	C45910281T	PEX16	NM_057174.2(PEX16):c.953-104del	coding	Pathogenic
11	45935741	TAAAAAA	T	A45935759G	PHF21A	NM_016621.4(PHF21A):c.1544-8_1544-3del	noncoding	Benign
11	45935741	TAA	T	A45935763G	PHF21A	NM_016621.4(PHF21A):c.1544-4_1544-3del	noncoding	Benign
11	45935741	TA	T	A45935764G	PHF21A	NM_016621.4(PHF21A):c.1544-3del	noncoding	Benign
11	45949405	T	TG	C45949408G	PHF21A	NM_016621.4(PHF21A):c.1223dup:p.Glu409fs	coding	Pathogenic
11	45953586	CTGTT	C	G45953592C	PHF21A	NM_001352027.3(PHF21A):c.1032_1035del:p.Thr345fs	coding	Pathogenic
11	45969849	GGA	G	A45969851G	PHF21A	NM_001352027.3(PHF21A):c.666_667del:p.Pro222_Pro223insTer	coding	Pathogenic
11	45969856	G	GTT	G45969857T	PHF21A	NM_016621.4(PHF21A):c.660_661insAA:p.Pro221fs	coding	Pathogenic
11	46312635	TAAG	T	A46312642G	CREB3L1	NM_052854.4(CREB3L1):c.928_930AAG[2]:p.Lys312del	coding	Pathogenic
11	46320530	TG	T	G46320534T	CREB3L1	NM_052854.4(CREB3L1):c.1523+6del	noncoding	Benign
11	46320708	A	AG	A46320712G	CREB3L1	NM_052854.3(CREB3L1):c.1525dupG:p.Asp509Glyfs	noncoding	Benign
11	46366365	T	TC	G46366371C	DGKZ	NM_201532.3(DGKZ):c.213-921dup	coding	Pathogenic
11	46702730	CGT	C	T46702736C	ZNF408	NM_024741.3(ZNF408):c.359_360TG[2]:p.Ala122fs	coding	Pathogenic
11	46703166	CAGTGGTGACAGA	C	T46703172A	ZNF408	NM_024741.3(ZNF408):c.581_592del:p.Val194_Val197del	coding	Benign
11	46723421	G	GT	A46723422T	F2	NM_000506.4(F2):c.462_463insT:p.Asn155Ter	coding	Pathogenic
11	47234779	AAAAG	A	A47234784T	DDB2	NM_001300734.1(DDB2):c.457-3053_457-3050del	coding	Pathogenic/Likely_pathogenic
11	47295537	TA	T	A47295538T	MADD	NM_003682.4(MADD):c.3559del:p.Val1186_Met1187insTer	coding	Pathogenic
11	47295932	CAG	C	A47295933T	MADD	NM_003682.4(MADD):c.3637_3638del:p.Asp1212_Ser1213insTer	coding	Pathogenic
11	47309532	CG	C	G47309534A	MADD	NM_003682.4(MADD):c.4080del:p.Lys1361fs	coding	Pathogenic
11	47332086	CG	C	G47332088C	MYBPC3	NM_000256.3(MYBPC3):c.3799del:p.Arg1267fs	coding	Pathogenic
11	47332109	CT	C	T47332110G	MYBPC3	NM_000256.3(MYBPC3):c.3776del:p.Gln1259fs	coding	Pathogenic/Likely_pathogenic
11	47332119	GT	G	T47332120G	MYBPC3	NM_000256.3(MYBPC3):c.3766del:p.Thr1256fs	coding	Pathogenic
11	47332126	T	TGCAGACATAGATGCCCCC	T47332146C	MYBPC3	NM_000256.3(MYBPC3):c.3742_3759dup:p.Gly1248_Cys1253dup	coding	Pathogenic/Likely_pathogenic
11	47332132	CAT	C	T47332134G	MYBPC3	NM_000256.3(MYBPC3):c.3752_3753del:p.Tyr1251fs	coding	Pathogenic
11	47332150	AG	A	G47332154C	MYBPC3	NM_000256.3(MYBPC3):c.3735del:p.Phe1246fs	coding	Pathogenic/Likely_pathogenic
11	47332159	GC	G	C47332160T	MYBPC3	NM_000256.3(MYBPC3):c.3726del:p.Lys1242fs	coding	Pathogenic/Likely_pathogenic
11	47332172	CAG	C	A47332175T	MYBPC3	NM_000256.3(MYBPC3):c.3710_3711CT[1]:p.Leu1238fs	coding	Pathogenic
11	47332194	CTG	C	T47332195A	MYBPC3	NM_000256.3(MYBPC3):c.3690_3691del:p.Phe1230fs	coding	Pathogenic
11	47332220	TC	T	C47332223A	MYBPC3	NM_000256.3(MYBPC3):c.3665del:p.Gly1222fs	coding	Pathogenic
11	47332224	AGGT	GCCATTCTTGAA	A47332224G	MYBPC3	NM_000256.3(MYBPC3):c.3659_3662delinsTTCAAGAATGGC:p.Asp1220fs	coding	Pathogenic
11	47332241	G	GA	C47332244A	MYBPC3	NM_000256.3(MYBPC3):c.3644dup:p.Lys1216fs	coding	Pathogenic
11	47332563	TA	T	A47332564C	MYBPC3	NM_000256.3(MYBPC3):c.3627+2del	noncoding	Pathogenic
11	47332568	TG	T	G47332572C	MYBPC3	NM_000256.3(MYBPC3):c.3624del:p.Lys1209fs	coding	Pathogenic
11	47332568	T	TG	C47332573G	MYBPC3	NM_000256.3(MYBPC3):c.3624dup:p.Lys1209fs	coding	Pathogenic/Likely_pathogenic
11	47332575	AC	A	C47332579G	MYBPC3	NM_000256.3(MYBPC3):c.3617del:p.Gly1206fs	coding	Pathogenic
11	47332583	CAGCACAGCAG	C	C47332588T	MYBPC3	NM_000256.3(MYBPC3):c.3600_3609del:p.Cys1201fs	coding	Pathogenic
11	47332619	CCGAG	C	A47332622G	MYBPC3	NM_000256.3(MYBPC3):c.3570_3573del:p.Val1192fs	coding	Pathogenic
11	47332632	CA	C	A47332633G	MYBPC3	NM_000256.3(MYBPC3):c.3560del:p.Leu1187fs	coding	Pathogenic
11	47332633	AG	A	G47332637C	MYBPC3	NM_000256.3(MYBPC3):c.3559del:p.Leu1187fs	coding	Pathogenic
11	47332675	T	TTATA	G47332680T	MYBPC3	NM_000256.3(MYBPC3):c.3514_3515TA[4]:p.Lys1173delinsIleTer	coding	Pathogenic
11	47332680	GT	G	T47332682G	MYBPC3	NM_000256.3(MYBPC3):c.3512del:p.Asn1171fs	coding	Pathogenic
11	47332822	GGGATAAAGAC	G	A47332825G	MYBPC3	NM_000256.3(MYBPC3):c.3472_3481del:p.Val1158fs	coding	Pathogenic
11	47332824	G	GATAA	G47332830T	MYBPC3	NM_000256.3(MYBPC3):c.3476_3479dup:p.Pro1161fs	coding	Pathogenic
11	47332826	TAA	T	A47332828G	MYBPC3	NM_000256.3(MYBPC3):c.3476_3477del:p.Phe1159fs	coding	Pathogenic
11	47332827	A	AAAAT	G47332830A	MYBPC3	NM_000256.3(MYBPC3):c.3476_3477insATTT:p.Phe1159fs	coding	Pathogenic
11	47332836	C	CT	C47332838T	MYBPC3	NM_000256.3(MYBPC3):c.3467dup:p.Pro1157fs	coding	Pathogenic
11	47333196	TG	T	G47333198T	MYBPC3	NM_000256.3(MYBPC3):c.3327del:p.Met1110fs	coding	Pathogenic
11	47333198	GTC	G	C47333200T	MYBPC3	NM_000256.3(MYBPC3):c.3324_3325del:p.Lys1108fs	coding	Pathogenic
11	47333202	T	TC	T47333204C	MYBPC3	NM_000256.3(MYBPC3):c.3321dup:p.Lys1108fs	coding	Pathogenic
11	47333220	CTG	C	G47333224A	MYBPC3	NM_000256.3(MYBPC3):c.3300_3301CA[1]:p.Thr1101fs	coding	Pathogenic
11	47333226	A	AC	A47333232C	MYBPC3	NM_000256.3(MYBPC3):c.3297dup:p.Tyr1100fs	coding	Pathogenic
11	47333295	C	CA	G47333296A	MYBPC3	NM_000256.3(MYBPC3):c.3228_3229insT:p.Ala1077fs	coding	Pathogenic
11	47333297	T	TA	C47333298A	MYBPC3	NM_000256.3(MYBPC3):c.3226_3227insT:p.Asp1076fs	coding	Pathogenic
11	47333306	C	CG	A47333309G	MYBPC3	NM_000256.3(MYBPC3):c.3217dup:p.Arg1073fs	coding	Pathogenic/Likely_pathogenic
11	47333331	T	TG	T47333333G	MYBPC3	NM_000256.3(MYBPC3):c.3192dup:p.Lys1065fs	coding	Pathogenic
11	47333552	CGCACCAACAACCT	C	C47333556G	MYBPC3	NM_000256.3(MYBPC3):c.3182_3190+4del	noncoding	Pathogenic/Likely_pathogenic
11	47333553	GC	G	C47333554A	MYBPC3	NM_000256.3(MYBPC3):c.3190+3del	noncoding	Pathogenic
11	47333580	G	GC	T47333583C	MYBPC3	NM_000256.3(MYBPC3):c.3166dup:p.Ala1056fs	coding	Pathogenic
11	47333622	G	GTT	G47333624T	MYBPC3	NM_000256.3(MYBPC3):c.3124_3125insAA:p.Thr1042fs	coding	Pathogenic
11	47333645	GGCCCGGATGAACA	G	C47333647G	MYBPC3	NM_000256.3(MYBPC3):c.3089_3101del:p.Leu1030fs	coding	Pathogenic
11	47333646	GC	G	C47333649G	MYBPC3	NM_000256.3(MYBPC3):c.3100del:p.Ala1034fs	coding	Pathogenic
11	47333668	C	TT	C47333668T	MYBPC3	NM_000256.3(MYBPC3):c.3079G>AA	coding	Pathogenic
11	47333678	G	GT	G47333681T	MYBPC3	NM_000256.3(MYBPC3):c.3068dup:p.Asn1023fs	coding	Pathogenic
11	47333706	AG	A	G47333710C	MYBPC3	NM_000256.3(MYBPC3):c.3040del:p.Leu1014fs	coding	Pathogenic
11	47333968	ATGGTC	A	T47333972C	MYBPC3	NM_000256.3(MYBPC3):c.2943_2947del:p.Gln981fs	coding	Pathogenic
11	47335037	CTCACGCAGGATCTCCT	C	T47335038G	MYBPC3	NM_000256.3(MYBPC3):c.2894_2905+4del	noncoding	Pathogenic
11	47335070	CGT	C	T47335072G	MYBPC3	NM_000256.3(MYBPC3):c.2875_2876del:p.Thr959fs	coding	Pathogenic
11	47335078	T	TA	C47335081A	MYBPC3	NM_000256.3(MYBPC3):c.2868dup:p.Thr957fs	coding	Pathogenic
11	47335081	CA	C	A47335082G	MYBPC3	NM_000256.3(MYBPC3):c.2865del:p.Val956fs	coding	Pathogenic
11	47335081	CAG	C	A47335082G	MYBPC3	NM_000256.3(MYBPC3):c.2864_2865del:p.Pro955fs	coding	Pathogenic/Likely_pathogenic
11	47335112	CCG	C	G47335114A	MYBPC3	NM_000256.3(MYBPC3):c.2833_2834del:p.Arg945fs	coding	Pathogenic
11	47335154	C	CA	C47335156A	MYBPC3	NM_000256.3(MYBPC3):c.2792dup:p.Lys932fs	coding	Pathogenic
11	47335157	CA	C	A47335158G	MYBPC3	NM_000256.3(MYBPC3):c.2789del:p.Leu930fs	coding	Pathogenic
11	47335165	ATG	A	T47335170C	MYBPC3	NM_000256.3(MYBPC3):c.2776_2777CA[2]:p.Thr927fs	coding	Pathogenic
11	47335180	GC	G	C47335184T	MYBPC3	NM_000256.3(MYBPC3):c.2766del:p.Gly922_Leu923insTer	coding	Pathogenic
11	47335202	CT	C	T47335203C	MYBPC3	NM_000256.3(MYBPC3):c.2744del:p.Glu915fs	coding	Pathogenic
11	47335876	CA	C	A47335877G	MYBPC3	NM_000256.3(MYBPC3):c.2737del:p.Cys913fs	coding	Pathogenic
11	47335894	TCCACGCTGTAG	T	C47335898T	MYBPC3	NM_000256.3(MYBPC3):c.2709_2719del:p.Tyr904fs	coding	Pathogenic
11	47335897	AC	A	C47335898G	MYBPC3	NM_000256.3(MYBPC3):c.2716del:p.Val906fs	coding	Pathogenic
11	47335910	C	CCAGG	C47335916A	MYBPC3	NM_000256.3(MYBPC3):c.2700_2703dup:p.Asp902fs	coding	Pathogenic
11	47335940	G	GCCGCCACTTGAGGGAGACCGTGGTGT	A47335968C	MYBPC3	NM_000256.3(MYBPC3):c.2648_2673dup:p.Pro892fs	coding	Pathogenic
11	47336003	TG	T	G47336009A	MYBPC3	NM_000256.3(MYBPC3):c.2610del:p.Ser871fs	coding	Pathogenic/Likely_pathogenic
11	47336003	T	TG	A47336010G	MYBPC3	NM_000256.3(MYBPC3):c.2610dup:p.Ser871fs	coding	Pathogenic/Likely_pathogenic
11	47336009	GA	G	A47336010C	MYBPC3	NM_000256.3(MYBPC3):c.2604del:p.Ser871fs	coding	Pathogenic
11	47336009	GA	T	G47336009T	MYBPC3	NM_000256.3(MYBPC3):c.2604_2605delinsA:p.Ser871fs	coding	Pathogenic
11	47336009	G	GT	A47336010T	MYBPC3	NM_000256.3(MYBPC3):c.2604_2605insA:p.Pro869fs	coding	Pathogenic
11	47337416	A	AGGGCT	C47337426T	MYBPC3	NM_000256.3(MYBPC3):c.2572_2576dup:p.Ser861fs	coding	Pathogenic
11	47337420	C	CTT	G47337422T	MYBPC3	NM_000256.3(MYBPC3):c.2572_2573insAA:p.Ser858fs	coding	Pathogenic
11	47337422	GGGCCTGGACAT	G	G47337424C	MYBPC3	NM_000256.3(MYBPC3):c.2560_2570del:p.Met854fs	coding	Pathogenic
11	47337424	GC	G	C47337426T	MYBPC3	NM_000256.3(MYBPC3):c.2568del:p.Arg856fs	coding	Pathogenic
11	47337434	GC	G	C47337436G	MYBPC3	NM_000256.3(MYBPC3):c.2558del:p.Gly853fs	coding	Pathogenic
11	47337436	CG	AGA	C47337436A	MYBPC3	NM_000256.3(MYBPC3):c.2556_2557delinsTCT:p.Gly853fs	coding	Pathogenic
11	47337436	CG	C	G47337437A	MYBPC3	NM_000256.3(MYBPC3):c.2556del:p.Ile852fs	coding	Pathogenic
11	47337448	C	CCG	T47337453C	MYBPC3	NM_000256.3(MYBPC3):c.2541_2542CG[3]:p.Val849fs	coding	Pathogenic
11	47337449	CG	C	G47337450C	MYBPC3	NM_000256.3(MYBPC3):c.2543del:p.Ala848fs	coding	Pathogenic
11	47337454	AGACGC	A	A47337456C	MYBPC3	NM_000256.3(MYBPC3):c.2534_2538del:p.Arg845fs	coding	Pathogenic
11	47337454	AGACGCGC	A	G47337455A	MYBPC3	NM_000256.3(MYBPC3):c.2532_2538del:p.Met844fs	coding	Pathogenic/Likely_pathogenic
11	47337454	AGACGCGCATCTCGTACACCACG	A	G47337455C	MYBPC3	NM_000256.3(MYBPC3):c.2517_2538del:p.Val840fs	coding	Pathogenic
11	47337468	T	TA	C47337470A	MYBPC3	NM_000256.3(MYBPC3):c.2524dup:p.Tyr842fs	coding	Pathogenic
11	47337479	CTCGA	C	G47337482A	MYBPC3	NM_000256.3(MYBPC3):c.2510_2513del:p.Ile837fs	coding	Pathogenic
11	47337481	CG	C	G47337482A	MYBPC3	NM_000256.3(MYBPC3):c.2511del:p.Ile837fs	coding	Pathogenic/Likely_pathogenic
11	47337488	GC	G	C47337489G	MYBPC3	NM_000256.3(MYBPC3):c.2504del:p.Arg835fs	coding	Pathogenic
11	47337502	G	GA	C47337504A	MYBPC3	NM_000256.3(MYBPC3):c.2490dup:p.His831fs	coding	Pathogenic/Likely_pathogenic
11	47337533	CCGCAT	C	G47337535C	MYBPC3	NM_000256.3(MYBPC3):c.2455_2459del:p.Met819fs	coding	Pathogenic
11	47337541	AC	A	C47337543G	MYBPC3	NM_000256.3(MYBPC3):c.2451del:p.Trp818fs	coding	Pathogenic
11	47337554	CT	C	T47337556C	MYBPC3	NM_000256.3(MYBPC3):c.2438del:p.Lys813fs	coding	Pathogenic
11	47337708	C	CA	T47337710A	MYBPC3	NM_000256.3(MYBPC3):c.2394dup:p.Gly799fs	coding	Pathogenic/Likely_pathogenic
11	47337720	GC	G	C47337721G	MYBPC3	NM_000256.3(MYBPC3):c.2382del:p.Pro795fs	coding	Pathogenic
11	47337725	T	TC	A47337729C	MYBPC3	NM_000256.3(MYBPC3):c.2377dup:p.Glu793fs	coding	Pathogenic
11	47337729	A	AC	T47337731C	MYBPC3	NM_000256.3(MYBPC3):c.2373dup:p.Trp792fs	coding	Pathogenic
11	47337791	A	AC	G47337793C	MYBPC3	NM_000256.3(MYBPC3):c.2311dup:p.Val771fs	coding	Pathogenic
11	47337792	CG	C	G47337793T	MYBPC3	NM_000256.3(MYBPC3):c.2310del:p.Asp770fs	coding	Pathogenic
11	47338519	C	CCGAT	G47338524C	MYBPC3	NM_000256.3(MYBPC3):c.2306_2309dup:p.Val771fs	coding	Pathogenic
11	47338548	GT	G	T47338549C	MYBPC3	NM_000256.3(MYBPC3):c.2279del:p.Asp760fs	coding	Pathogenic
11	47338560	AG	A	G47338563T	MYBPC3	NM_000256.3(MYBPC3):c.2267del:p.Pro756fs	coding	Pathogenic
11	47338569	C	CA	C47338571A	MYBPC3	NM_000256.3(MYBPC3):c.2258dup:p.Lys754fs	coding	Pathogenic
11	47338583	AGACGC	GAAGG	A47338583G	MYBPC3	NM_000256.3(MYBPC3):c.2240_2245delinsCCTTC:p.Gly747fs	coding	Pathogenic
11	47338606	GC	G	C47338611T	MYBPC3	NM_000256.3(MYBPC3):c.2221del:p.Ala741fs	coding	Pathogenic
11	47338664	CG	C	G47338666T	MYBPC3	NM_000256.3(MYBPC3):c.2163del:p.Glu722fs	coding	Pathogenic
11	47338669	TCA	T	C47338674G	MYBPC3	NM_000256.3(MYBPC3):c.2153_2154TG[2]:p.Cys719_Glu720delinsTer	coding	Pathogenic
11	47338680	CT	C	T47338681G	MYBPC3	NM_000256.3(MYBPC3):c.2149-2del	noncoding	Pathogenic
11	47338681	T	TG	T47338689G	MYBPC3	NM_000256.3(MYBPC3):c.2149-9dup	noncoding	Benign/Likely_benign
11	47339358	G	GT	G47339360T	MYBPC3	NM_000256.3(MYBPC3):c.2113dup:p.Thr705fs	coding	Pathogenic
11	47339375	TG	T	G47339379C	MYBPC3	NM_000256.3(MYBPC3):c.2096del:p.Pro699fs	coding	Pathogenic
11	47339659	TA	T	A47339660G	MYBPC3	NM_000256.3(MYBPC3):c.2058del:p.Ile687fs	coding	Pathogenic
11	47339677	C	CA	G47339679A	MYBPC3	NM_000256.3(MYBPC3):c.2040dup:p.Val681fs	coding	Pathogenic
11	47339702	AGGG	CC	A47339702C	MYBPC3	NM_000256.3(MYBPC3):c.2013_2016delinsGG:p.Pro672fs	coding	Pathogenic/Likely_pathogenic
11	47339714	A	AC	G47339716C	MYBPC3	NM_000256.3(MYBPC3):c.2003dup:p.Leu669fs	coding	Pathogenic
11	47339718	AG	C	A47339718C	MYBPC3	NM_000256.3(MYBPC3):c.1999_2000delinsG:p.Leu667fs	coding	Pathogenic
11	47341006	GCC	G	C47341007T	MYBPC3	NM_000256.3(MYBPC3):c.1922_1923del:p.Arg641fs	coding	Pathogenic
11	47341139	CA	C	A47341140T	MYBPC3	NM_000256.3(MYBPC3):c.1895del:p.Met632fs	coding	Pathogenic
11	47341142	GA	G	A47341144G	MYBPC3	NM_000256.3(MYBPC3):c.1892del:p.Phe631fs	coding	Pathogenic
11	47341144	AG	A	G47341145T	MYBPC3	NM_000256.3(MYBPC3):c.1890del:p.Phe631fs	coding	Pathogenic
11	47341171	CG	C	G47341172A	MYBPC3	NM_000256.3(MYBPC3):c.1863del:p.Phe621fs	coding	Pathogenic
11	47341189	AGCTGTAGTCAGCCTCGTCG	GCTGTA	A47341189G	MYBPC3	NM_000256.3(MYBPC3):c.1827_1846delinsTACAGC:p.Asp610fs	coding	Pathogenic
11	47341196	G	GT	C47341198T	MYBPC3	NM_000256.3(MYBPC3):c.1838dup:p.Asp613fs	coding	Pathogenic
11	47341205	GTCGGCAG	T	G47341205T	MYBPC3	NM_000256.3(MYBPC3):c.1823_1830delinsA:p.Pro608fs	coding	Pathogenic
11	47341221	T	TCG	T47341224C	MYBPC3	NM_000256.3(MYBPC3):c.1812_1813dup:p.Asp605fs	coding	Pathogenic
11	47341228	TG	T	G47341230T	MYBPC3	NM_000256.3(MYBPC3):c.1806del:p.Ile603fs	coding	Pathogenic
11	47341234	GT	G	T47341237G	MYBPC3	NM_000256.3(MYBPC3):c.1800del:p.Lys600fs	coding	Pathogenic
11	47341242	AC	A	C47341245T	MYBPC3	NM_000256.3(MYBPC3):c.1792delG	coding	Pathogenic
11	47342003	GAC	G	A47342006C	MYBPC3	NM_000256.3(MYBPC3):c.1774_1775GT[1]:p.Ser593fs	coding	Pathogenic
11	47342025	GC	G	C47342026A	MYBPC3	NM_000256.3(MYBPC3):c.1755del:p.Asp587fs	coding	Pathogenic
11	47342046	TC	T	C47342047A	MYBPC3	NM_000256.3(MYBPC3):c.1734del:p.Lys579fs	coding	Pathogenic
11	47342050	CCA	C	A47342056C	MYBPC3	NM_000256.3(MYBPC3):c.1725_1726TG[2]:p.Trp577fs	coding	Pathogenic
11	47342079	CCT	C	T47342081A	MYBPC3	NM_000256.3(MYBPC3):c.1700_1701del:p.Glu567fs	coding	Pathogenic
11	47342102	TC	T	C47342104T	MYBPC3	NM_000256.3(MYBPC3):c.1678del:p.Asp560fs	coding	Pathogenic
11	47342138	TAC	T	A47342141C	MYBPC3	NM_000256.3(MYBPC3):c.1639_1640GT[1]:p.Tyr548fs	coding	Pathogenic/Likely_pathogenic
11	47342140	CACCTCCAG	C	A47342141C	MYBPC3	NM_000256.3(MYBPC3):c.1633_1640del:p.Leu545fs	coding	Pathogenic
11	47342152	CT	C	T47342156C	MYBPC3	NM_000256.3(MYBPC3):c.1628del:p.Lys543fs	coding	Pathogenic
11	47342558	GC	G	C47342565A	MYBPC3	NM_000256.3(MYBPC3):c.1624+19del	noncoding	Benign
11	47342579	C	CT	G47342581T	MYBPC3	NM_000256.3(MYBPC3):c.1622dup:p.Glu542fs	coding	Pathogenic/Likely_pathogenic
11	47342586	A	ATGAGG	C47342591G	MYBPC3	NM_000256.3(MYBPC3):c.1615_1616insCCTCA:p.Ile539fs	coding	Pathogenic
11	47342606	GC	G	C47342611G	MYBPC3	NM_000256.3(MYBPC3):c.1595del:p.Gly532fs	coding	Pathogenic
11	47342607	CCCCCGCTAGTGCACAGTGCATAGTG	C	T47342614G	MYBPC3	NM_000256.3(MYBPC3):c.1570_1594del:p.His524fs	coding	Pathogenic
11	47342621	C	CAGTG	C47342626A	MYBPC3	NM_000256.3(MYBPC3):c.1577_1580dup:p.Cys528fs	coding	Pathogenic
11	47342632	GC	G	C47342636G	MYBPC3	NM_000256.3(MYBPC3):c.1569del:p.His524fs	coding	Pathogenic
11	47342680	GC	G	C47342683G	MYBPC3	NM_000256.3(MYBPC3):c.1521del:p.Gln508fs	coding	Pathogenic
11	47342682	CCG	C	C47342683T	MYBPC3	NM_000256.3(MYBPC3):c.1518_1519del:p.Asp506fs	coding	Pathogenic
11	47342718	CG	C	G47342721T	MYBPC3	NM_000256.3(MYBPC3):c.1483del:p.Arg495fs	coding	Pathogenic
11	47342809	CC	AA	C47342809A	MYBPC3	NM_000256.3(MYBPC3):c.1457+20_1457+21delinsTT	noncoding	Benign
11	47342842	G	GC	T47342848C	MYBPC3	NM_000256.3(MYBPC3):c.1444dup:p.Ala482fs	coding	Pathogenic
11	47342846	CC	G	C47342846G	MYBPC3	NM_000256.3(MYBPC3):c.1440_1441delinsC:p.Glu480fs	coding	Pathogenic
11	47342864	AC	A	C47342865T	MYBPC3	NM_000256.3(MYBPC3):c.1422del:p.Glu474fs	coding	Pathogenic
11	47342875	ACC	A	C47342877G	MYBPC3	NM_000256.3(MYBPC3):c.1410_1411del:p.Val471fs	coding	Pathogenic
11	47342882	GC	G	C47342886A	MYBPC3	NM_000256.3(MYBPC3):c.1404del:p.Gln469fs	coding	Pathogenic/Likely_pathogenic
11	47342909	AG	A	G47342913C	MYBPC3	NM_000256.3(MYBPC3):c.1377del:p.Leu460fs	coding	Pathogenic
11	47342919	GA	G	A47342920T	MYBPC3	NM_000256.3(MYBPC3):c.1367del:p.Ile456fs	coding	Pathogenic
11	47342927	CA	C	A47342928G	MYBPC3	NM_000256.3(MYBPC3):c.1359del:p.Val454fs	coding	Pathogenic
11	47342928	A	AG	C47342934G	MYBPC3	NM_000256.3(MYBPC3):c.1358dup:p.Val454fs	coding	Pathogenic/Likely_pathogenic
11	47342928	AGG	A	G47342932C	MYBPC3	NM_000256.3(MYBPC3):c.1357_1358del:p.Pro453fs	coding	Pathogenic
11	47343041	CT	C	T47343042A	MYBPC3	NM_000256.3(MYBPC3):c.1330del:p.Ser444fs	coding	Pathogenic
11	47343043	ACACTTCTCGC	A	T47343047C	MYBPC3	NM_000256.3(MYBPC3):c.1319_1328del:p.Gly440fs	coding	Pathogenic
11	47343061	CA	C	A47343062C	MYBPC3	NM_000256.3(MYBPC3):c.1310del:p.Val437fs	coding	Pathogenic
11	47343135	CAA	C	A47343137G	MYBPC3	NM_000256.3(MYBPC3):c.1235_1236del:p.Ile411_Phe412insTer	coding	Pathogenic
11	47343135	C	CA	G47343139A	MYBPC3	NM_000256.3(MYBPC3):c.1236dup:p.Glu413Ter	coding	Pathogenic
11	47343540	GC	G	C47343541G	MYBPC3	NM_000256.3(MYBPC3):c.1174del:p.Ala392fs	coding	Pathogenic
11	47343543	T	TCATGGTCAGCCAGTTC	C47343562T	MYBPC3	NM_000256.3(MYBPC3):c.1156_1171dup:p.Asp391delinsGlyThrGlyTer	coding	Pathogenic
11	47343546	TGGTCAGCCAGTTCCAC	T	A47343555G	MYBPC3	NM_000256.3(MYBPC3):c.1153_1168del:p.Val385fs	coding	Pathogenic/Likely_pathogenic
11	47343546	TG	T	G47343548T	MYBPC3	NM_000256.3(MYBPC3):c.1168del:p.His390fs	coding	Pathogenic/Likely_pathogenic
11	47343552	G	GC	A47343555C	MYBPC3	NM_000256.3(MYBPC3):c.1162dup:p.Ala388fs	coding	Pathogenic/Likely_pathogenic
11	47343586	TG	T	G47343587C	MYBPC3	NM_000256.3(MYBPC3):c.1128del:p.Ser376fs	coding	Pathogenic
11	47343594	T	TG	T47343597G	MYBPC3	NM_000256.3(MYBPC3):c.1120dup:p.Gln374fs	coding	Pathogenic
11	47343607	C	CCAGCT	T47343613C	MYBPC3	NM_000256.3(MYBPC3):c.1103_1107dup:p.Glu370fs	coding	Pathogenic
11	47346212	C	CT	C47346214T	MYBPC3	NM_000256.3(MYBPC3):c.1084dup:p.Ser362fs	coding	Pathogenic
11	47346225	CGCG	GC	C47346225G	MYBPC3	NM_000256.3(MYBPC3):c.1069_1072delinsGC:p.Arg357fs	coding	Pathogenic
11	47346242	AGCCTCTTTAGCATGCCGCGCAGGTCAGTGACGCCGTACTGGAAGGCGATGCGCTCGTACTCAGATGGGGGT	A	C47346247G	MYBPC3	NM_000256.3(MYBPC3):c.984_1054del:p.Pro329fs	coding	Pathogenic
11	47346254	A	ATGCCG	C47346260T	MYBPC3	NM_000256.3(MYBPC3):c.1038_1042dup:p.Met348fs	coding	Pathogenic
11	47346268	AG	A	G47346269T	MYBPC3	NM_000256.3(MYBPC3):c.1028del:p.Thr343fs	coding	Pathogenic
11	47346303	C	CA	G47346305A	MYBPC3	NM_000256.3(MYBPC3):c.993dup:p.Glu332Ter	coding	Pathogenic
11	47346318	GC	G	C47346320G	MYBPC3	NM_000256.3(MYBPC3):c.978del:p.Gln327fs	coding	Pathogenic
11	47346629	C	CAGTT	G47346630A	MYBPC3	NM_000256.3(MYBPC3):c.923_924insAACT:p.Arg309fs	coding	Pathogenic
11	47346638	GAA	G	A47346640C	MYBPC3	NM_000256.3(MYBPC3):c.913_914del:p.Phe305fs	coding	Pathogenic/Likely_pathogenic
11	47347433	TC	T	C47347434A	MYBPC3	NM_000256.3(MYBPC3):c.897del:p.Lys301fs	coding	Pathogenic/Likely_pathogenic
11	47347446	GA	G	A47347448G	MYBPC3	NM_000256.3(MYBPC3):c.884del:p.Phe295fs	coding	Pathogenic
11	47347668	TC	T	C47347670A	MYBPC3	NM_000256.3(MYBPC3):c.833del:p.Gly278fs	coding	Pathogenic/Likely_pathogenic
11	47348473	C	CA	C47348475A	MYBPC3	NM_000256.3(MYBPC3):c.722dup:p.Ser242fs	coding	Pathogenic
11	47348490	TG	CA	T47348490C	MYBPC3	NM_000256.3(MYBPC3):c.705_706inv:p.Ser236Gly	coding	Benign/Likely_benign
11	47348494	A	AGTGAAGGCAGGCTGGGCATCGGTGAT	C47348524A	MYBPC3	NM_000256.3(MYBPC3):c.676_701dup:p.Gly235fs	coding	Pathogenic
11	47348514	CG	C	G47348516T	MYBPC3	NM_000256.3(MYBPC3):c.681del:p.Asp228fs	coding	Pathogenic
11	47349790	TAGCTGTCGTGC	T	T47349796C	MYBPC3	NM_000256.3(MYBPC3):c.627_637del:p.His210fs	coding	Pathogenic
11	47349841	CA	C	A47349842T	MYBPC3	NM_000256.3(MYBPC3):c.586del:p.Trp196fs	coding	Pathogenic
11	47349858	CTT	C	T47349859G	MYBPC3	NM_000256.3(MYBPC3):c.568_569del:p.Lys190fs	coding	Pathogenic
11	47349867	AGGCGGCTTCAGGAGGCTGGC	A	G47349869C	MYBPC3	NM_000256.3(MYBPC3):c.541_560del:p.Ala181fs	coding	Pathogenic
11	47349873	CT	C	T47349875C	MYBPC3	NM_000256.3(MYBPC3):c.554del:p.Lys185fs	coding	Pathogenic
11	47349876	C	CA	G47349878A	MYBPC3	NM_000256.3(MYBPC3):c.551dup:p.Lys185fs	coding	Pathogenic
11	47349894	CA	C	A47349895C	MYBPC3	NM_000256.3(MYBPC3):c.533del:p.Val178fs	coding	Pathogenic
11	47349921	A	ACCTG	A47349927C	MYBPC3	NM_000256.3(MYBPC3):c.506-3_506dup	coding	Pathogenic
11	47349933	AG	A	G47349937C	MYBPC3	NM_000256.3(MYBPC3):c.506-12del	noncoding	Benign/Likely_benign
11	47350006	ACACTCACC	A	T47350010G	MYBPC3	NM_000256.3(MYBPC3):c.505_505+7del	noncoding	Pathogenic
11	47350038	GC	G	C47350040G	MYBPC3	NM_000256.3(MYBPC3):c.480del:p.Pro161fs	coding	Pathogenic
11	47350052	A	AG	C47350055G	MYBPC3	NM_000256.3(MYBPC3):c.466dup:p.Leu156Profs	coding	Pathogenic
11	47350059	TG	T	G47350063T	MYBPC3	NM_000256.3(MYBPC3):c.459del:p.Ile154fs	coding	Pathogenic
11	47350062	GGT	G	G47350063C	MYBPC3	NM_000256.3(MYBPC3):c.455_456del:p.Asp152fs	coding	Pathogenic
11	47350065	CA	C	A47350066T	MYBPC3	NM_000256.3(MYBPC3):c.453del:p.Asp151fs	coding	Pathogenic
11	47350068	CG	C	G47350073C	MYBPC3	NM_000256.3(MYBPC3):c.450del:p.Asp151fs	coding	Pathogenic/Likely_pathogenic
11	47350078	AG	A	G47350082T	MYBPC3	NM_000256.3(MYBPC3):c.440del:p.Pro147fs	coding	Pathogenic
11	47350082	G	GT	A47350084T	MYBPC3	NM_000256.3(MYBPC3):c.436dup:p.Thr146fs	coding	Pathogenic
11	47350086	GAC	G	A47350087C	MYBPC3	NM_000256.3(MYBPC3):c.431_432del:p.Gly144fs	coding	Pathogenic
11	47350502	C	CT	G47350506T	MYBPC3	NM_000256.3(MYBPC3):c.405dup:p.Gly136fs	coding	Pathogenic
11	47350533	AGC	A	C47350535G	MYBPC3	NM_000256.3(MYBPC3):c.373_374del:p.Ala124_Ala125insTer	coding	Pathogenic/Likely_pathogenic
11	47350545	CG	C	G47350549C	MYBPC3	NM_000256.3(MYBPC3):c.362del:p.Pro121fs	coding	Pathogenic
11	47350550	CT	C	T47350552C	MYBPC3	NM_000256.3(MYBPC3):c.357del:p.Ala120fs	coding	Pathogenic/Likely_pathogenic
11	47350557	AG	A	G47350561C	MYBPC3	NM_000256.3(MYBPC3):c.350del:p.Pro117fs	coding	Pathogenic
11	47350572	C	CTCAG	C47350577T	MYBPC3	NM_000256.3(MYBPC3):c.332_335dup:p.Glu112delinsAspTer	coding	Pathogenic
11	47350574	C	CA	G47350576A	MYBPC3	NM_000256.3(MYBPC3):c.333dup:p.Glu112Ter	coding	Pathogenic
11	47350583	CA	C	A47350584G	MYBPC3	NM_000256.3(MYBPC3):c.324del:p.Ala109fs	coding	Pathogenic
11	47350586	G	GGGCAGGGGCCAGC	A47350600G	MYBPC3	NM_000256.3(MYBPC3):c.309_321dup:p.Pro108fs	coding	Pathogenic
11	47350590	AG	A	G47350594C	MYBPC3	NM_000256.3(MYBPC3):c.317del:p.Pro106fs	coding	Pathogenic
11	47350594	GC	G	C47350596A	MYBPC3	NM_000256.3(MYBPC3):c.313del:p.Ala105fs	coding	Pathogenic
11	47350597	AG	A	G47350598C	MYBPC3	NM_000256.3(MYBPC3):c.310del:p.Leu104fs	coding	Pathogenic
11	47350599	CATGGGCTCTG	C	A47350600C	MYBPC3	NM_000256.3(MYBPC3):c.299_308del:p.Ala100fs	coding	Pathogenic/Likely_pathogenic
11	47350599	C	CATGG	G47350604A	MYBPC3	NM_000256.3(MYBPC3):c.305_308dup:p.Met103fs	coding	Pathogenic
11	47351268	ACCTTGGAGGAG	A	T47351271A	MYBPC3	NM_000256.3(MYBPC3):c.252_262del:p.Ser85fs	coding	Pathogenic
11	47351272	TGG	CCTCC	T47351272C	MYBPC3	NM_000256.3(MYBPC3):c.257_259delinsGGAGG:p.Ser86fs	coding	Pathogenic
11	47351293	CG	C	G47351294T	MYBPC3	NM_000256.3(MYBPC3):c.237del:p.Ser78_Tyr79insTer	coding	Pathogenic
11	47351294	G	GT	A47351296T	MYBPC3	NM_000256.3(MYBPC3):c.236dup:p.Tyr79Ter	coding	Pathogenic
11	47351307	T	TC	G47351309C	MYBPC3	NM_000256.3(MYBPC3):c.223dup:p.Asp75fs	coding	Pathogenic
11	47351310	G	AA	G47351310A	MYBPC3	NM_000256.3(MYBPC3):c.221C>TT	coding	Pathogenic/Likely_pathogenic
11	47351315	G	GCC	A47351319C	MYBPC3	NM_000256.3(MYBPC3):c.214_215dup:p.Pro73fs	coding	Pathogenic
11	47351343	CGTGTGCCCTCT	C	T47351347G	MYBPC3	NM_000256.3(MYBPC3):c.177_187del:p.Glu60fs	coding	Pathogenic/Likely_pathogenic
11	47351348	GC	G	C47351351T	MYBPC3	NM_000256.3(MYBPC3):c.182del:p.Gly61fs	coding	Pathogenic
11	47351358	GC	G	C47351360A	MYBPC3	NM_000256.3(MYBPC3):c.172del:p.Ala58fs	coding	Pathogenic
11	47351368	AC	A	C47351369T	MYBPC3	NM_000256.3(MYBPC3):c.162del:p.Lys54fs	coding	Pathogenic
11	47351431	CTG	C	G47351433C	MYBPC3	NM_000256.3(MYBPC3):c.98_99del:p.Thr33fs	coding	Pathogenic/Likely_pathogenic
11	47351465	G	GC	G47351466C	MYBPC3	NM_000256.3(MYBPC3):c.65_66insG:p.Ala23fs	coding	Pathogenic
11	47359859	GCC	CT	G47359859C	SPI1	NM_001080547.2(SPI1):c.325_327delinsAG:p.Gly109fs	coding	Pathogenic
11	47408641	T	TCGC	A47408660C	SLC39A13	NM_001128225.3(SLC39A13):c.-29_-27CGC[7]	noncoding	Benign
11	47438035	GTT	G	T47438036C	RAPSN	NM_005055.5(RAPSN):c.1177_1178del:p.Asn393fs	coding	Pathogenic
11	47438776	GTTC	G	T47438781C	RAPSN	NM_005055.5(RAPSN):c.1116_1118GAA[1]:p.Lys373del	coding	Pathogenic
11	47438813	T	TAG	C47438818A	RAPSN	NM_005055.5(RAPSN):c.1081_1082CT[3]:p.Tyr362fs	coding	Pathogenic
11	47441668	CTG	TTA	C47441668T	RAPSN	NM_005055.5(RAPSN):c.853_855delinsTAA:p.Gln285Ter	coding	Pathogenic
11	47441931	AG	A	G47441933C	RAPSN	NM_005055.5(RAPSN):c.691-11del	noncoding	Benign
11	47442792	A	AAGAAC	G47442800A	RAPSN	NM_005055.5(RAPSN):c.549_553dup:p.Phe185fs	coding	Pathogenic
11	47448812	TGTGA	CCATCTCCTTGTAGCGGCCCATCT	T47448812C	RAPSN	NM_005055.5(RAPSN):c.149_153delinsAGATGGGCCGCTACAAGGAGATGG:p.Val50fs	coding	Pathogenic
11	47448953	G	GT	C47448955T	RAPSN	NM_005055.5(RAPSN):c.11dup:p.Asp4fs	coding	Pathogenic
11	47582407	CAG	C	G47582409T	NDUFS3	NM_004551.3(NDUFS3):c.568_569del:p.Asp190fs	coding	Pathogenic
11	47690227	CA	C	A47690232T	AGBL2	NM_024783.4(AGBL2):c.1479del:p.Phe493fs	coding	Benign
11	47767111	CGGTGGT	C	G47767118C	FNBP4	NM_015308.5(FNBP4):c.166_168ACC[2]:p.Thr58_Thr59del	coding	Benign
11	56357173	CTATAATTCATTATCTTTACAACAAGAGTAATCTTTTTAAAACTTAAAGCCAATAATGTTTTTCACCTATCTTAAAATTTTGTCATGGCTTACAATTCAAGGCCTGCAGGTCTCTGTCAAGCCGTGGATGCGGGCCTCTCTTCAGCAGGACGGAGTTTGTTAAAGTTGTTAAGAGTAAGGCCTACTTTAAGAGATATACCAAGTGAAATTTAGAAGACGACGAGAGGGTAAAACTGATTACTATGCTCGGAAACGCTTGGTGATACAGGATAAAAATAAATACAACACACCCAAATACTGGATGATAGTTCATGTAATAAACAGATATATCATTTGTCAGATTGCTTATGGCTGTATAGAGGGGAATGTGATAGTCCGCGCGGCACATGCACACGAACTGCCAAAATATGGTGTGAAGGTTGGCCTGACAAATTATGCTGCAGCCTATTGTACTTGCCTGCTGCTGGCCTGCAGGCTTCTCAATAGGTTTGGCATGGACAAGATCTATGAAGGCCAAGTGGAGGCGACTAGTGATGAATACAATGTGGAAAGCATTGATGGTCAGCCAGGTGCCTTTACCTGCTATTTGGGTGCAGGCCTTGCCAGAACTACCACTGGCAATAAAGTTTTTGGCACCCTGAAGGAAGCTGCGGTTGGAGGCTTGTCTATCCCTCACAGTACCAAACAATTCCCTGATTATGATTCTGAAAGCAAGGGATTTAATGCAGAAGTACACCGGAAGGACATCATGGGCCAGAATGTTGCAGCTTAGTTGCTAGCGCTACTTAATGGAAGAAGATGAAGATGCTTACAAGAAACAGTTCTCTCAATATATAAAGAACAGCATAACTCCAGACATGATGGAGGAGACGTATAAGAAAGCTCATGCTGCTATAGGAGAAAATCCAGTTTATGAAAAGAAGCCCAAGACAGAAGTTATGAAGAAGAGGCAGAACCATCCCAGAATGTCCCTTGCTCAGAAGAAAGATTGGGTAGCTCGAAAGAAGGCAAGCTTCCTCAGAGCTCAGGAGCAGGATGCTGAAAGCTAAACCAAACAATTTTCTATGAGGATTTTTCAGATAAAGACAATAAACTTATGAACAGCAACTAAAAAAAATTAAGAAATAAATAAAATTCAAATAATCACTGTGACCTAATTCTTCCTTATTATAATCTATTCACACTGTCCTCCATTAAGACCCCCTACCCCCTCA	C	T56357174A	OR8J1	GRCh38/hg38_11q12.1(chr11:56357174-56358386)x1	noncoding	Benign
11	56693465	TTTG	T	G56693486A	-	NC_000011.10:g.56693466_56693468del	noncoding	Benign
11	57598932	C	CGT	C57598948T	SERPING1	NM_000062.3(SERPING1):c.51+612GT[8]	noncoding	Benign
11	57599928	CAG	C	A57599933T	SERPING1	NM_001032295.2(SERPING1):c.102_103AG[2]:p.Ser36fs	coding	Pathogenic
11	57599989	AT	A	T57599991C	SERPING1	NM_000062.3(SERPING1):c.164del:p.Phe55fs	coding	Pathogenic
11	57599992	CG	C	G57599993T	SERPING1	NM_000062.2(SERPING1):c.166del:p.Val56fs	coding	Pathogenic
11	57600021	TG	T	G57600022C	SERPING1	NM_000062.3(SERPING1):c.195del:p.Leu65fs	coding	Pathogenic
11	57600135	CCCAA	C	C57600141T	SERPING1	NM_000062.3(SERPING1):c.314_317del:p.Pro105fs	coding	Pathogenic
11	57600166	TCCTA	T	T57600169C	SERPING1	NM_000062.2(SERPING1):c.342_345del:p.Thr115fs	coding	Pathogenic
11	57600173	CA	C	A57600174G	SERPING1	NM_000062.3(SERPING1):c.347del:p.Gln116fs	coding	Pathogenic
11	57600331	CT	C	T57600335C	SERPING1	NM_000062.3(SERPING1):c.508del:p.Ser170fs	coding	Pathogenic
11	57602058	A	AACCTGGAG	G57602068C	SERPING1	NM_000062.3(SERPING1):c.576_583dup:p.Ser195fs	coding	Pathogenic
11	57602068	GCATC	G	A57602070T	SERPING1	NM_000062.2(SERPING1):c.586_589del:p.Ile196fs	coding	Pathogenic
11	57602080	A	AC	A57602085C	SERPING1	NM_000062.3(SERPING1):c.600dup:p.Lys201fs	coding	Pathogenic
11	57602098	G	GT	G57602100T	SERPING1	NM_000062.2(SERPING1):c.615dup:p.Val206fs	coding	Pathogenic
11	57602130	A	TCAGTGTCGTG	A57602130T	SERPING1	NM_000062.2(SERPING1):c.646delinsTCAGTGTCGTG:p.Lys216delinsSerValSerTer	coding	Pathogenic
11	57602158	TC	AA	T57602158A	SERPING1	NM_000062.2(SERPING1):c.674_675delinsAA:p.Phe225Ter	coding	Pathogenic
11	57606177	AC	A	C57606180G	SERPING1	NM_000062.2(SERPING1):c.856del:p.Arg286fs	coding	Pathogenic
11	57606419	AC	A	C57606420A	SERPING1	NM_000062.3(SERPING1):c.902del:p.Thr301fs	coding	Pathogenic
11	57606451	AC	A	C57606454T	SERPING1	NM_000062.2(SERPING1):c.936del:p.His314fs	coding	Pathogenic
11	57610203	CT	C	T57610204G	SERPING1	NM_000062.3(SERPING1):c.1030-1513del	noncoding	Benign
11	57611792	GA	G	A57611793C	SERPING1	NM_000062.2(SERPING1):c.1106del:p.Asp369fs	coding	Pathogenic
11	57611851	GTCCAAGT	G	A57611856G	SERPING1	NM_000062.2(SERPING1):c.1169_1175del:p.Lys390fs	coding	Pathogenic
11	57611866	CA	C	A57611867C	SERPING1	NM_000062.3(SERPING1):c.1180del:p.Thr394fs	coding	Pathogenic
11	57611920	A	ATC	A57611921T	SERPING1	NM_000062.3(SERPING1):c.1233_1234insTC:p.Ile412fs	coding	Pathogenic
11	57614337	AT	A	T57614342C	SERPING1	NM_000062.2(SERPING1):c.1264del:p.Ser422fs	coding	Pathogenic
11	57614345	T	TA	T57614347A	SERPING1	NM_000062.3(SERPING1):c.1268dup:p.Tyr423Ter	coding	Pathogenic
11	57614419	G	GGAACTGAC	A57614428G	SERPING1	NM_000062.3(SERPING1):c.1342_1349dup:p.Glu451_Thr452insAsnTer	coding	Pathogenic
11	57614427	CAG	C	G57614431C	SERPING1	NM_001032295.2(SERPING1):c.1351_1352GA[1]:p.Glu451fs	coding	Pathogenic/Likely_pathogenic
11	57614435	G	GTGT	G57614436T	SERPING1	NM_000062.2(SERPING1):c.1357_1358insTGT:p.Gly453delinsValTrp	coding	Pathogenic
11	57738373	A	AC	T57738381C	TMX2	NM_015959.4(TMX2):c.391dup:p.Leu131fs	coding	Pathogenic
11	57739032	AGTACGCGGTATGTAAAGACCT	A	T57739034G	TMX2	NM_015959.4(TMX2):c.609_614+15del	coding	Pathogenic
11	57796640	CT	C	T57796642C	CTNND1	NM_001085458.2(CTNND1):c.606del:p.Pro203fs	coding	Pathogenic
11	57796972	TGA	T	G57796973C	CTNND1	NM_001085458.2(CTNND1):c.937_938del:p.Asp313fs	coding	Pathogenic
11	59125357	AAAG	A	A59125359G	FAM111B	NM_198947.4(FAM111B):c.1262_1264del:p.Lys421del	coding	Pathogenic
11	59152449	G	GGCAGATACTT	T59152460G	FAM111A	NM_001142519.3(FAM111A):c.782_791dup:p.Phe264fs	coding	Benign
11	59152687	ATTC	A	T59152694G	FAM111A	NM_001142519.3(FAM111A):c.1020_1022TTC[2]:p.Ser343del	coding	Pathogenic
11	59594258	GT	G	T59594259A	OSBP	NM_002556.3(OSBP):c.1312-4del	noncoding	Benign
11	59831694	T	TA	C59831696A	CBLIF	NM_005142.3(CBLIF):c.1175dup:p.Thr393fs	coding	Pathogenic
11	59843948	GATTC	G	T59843951G	CBLIF	NM_005142.3(CBLIF):c.183_186del:p.Met61fs	coding	Pathogenic
11	59843973	GT	G	T59843976G	CBLIF	NM_005142.3(CBLIF):c.161del:p.Asn54fs	coding	Pathogenic
11	59863993	AC	A	C59863994A	TCN1	NM_001062.4(TCN1):c.172del:p.Val58fs	coding	Benign
11	59866444	TA	T	A59866445G	TCN1	NM_001062.4(TCN1):c.26del:p.Leu9fs	coding	Pathogenic
11	60853272	CTT	C	T60853274G	PTGDR2	NM_004778.3(PTGDR2):c.449_450del:p.Lys150fs	coding	Benign
11	60873214	TCCATTTTC	T	T60873218C	ZP1	NM_207341.3(ZP1):c.1169_1176del:p.Ile390fs	coding	Pathogenic
11	61398259	C	CA	G61398260A	TMEM216	NM_001173990.3(TMEM216):c.432-11_432-10insA	noncoding	Benign
11	61437764	C	CT	G61437766T	SDHAF2	NM_017841.2(SDHAF2):c.177dup:p.Asp60Ter	coding	Pathogenic
11	61437783	CA	C	A61437787G	SDHAF2	NM_017841.4(SDHAF2):c.199del:p.Arg67fs	coding	Pathogenic
11	61437788	G	GAGCCC	G61437794A	SDHAF2	NM_017841.4(SDHAF2):c.201_205dup:p.Arg69fs	coding	Pathogenic
11	61438048	T	TA	G61438049A	SDHAF2	NM_017841.2(SDHAF2):c.305_306insA:p.Asn103fs	coding	Pathogenic/Likely_pathogenic
11	61766173	GCACCGGGCCCCCCATC	T	G61766173T	MYRF	NM_001127392.3(MYRF):c.350_366delinsT:p.Gly117fs	coding	Pathogenic
11	61771540	T	TC	A61771549C	MYRF	NM_001127392.3(MYRF):c.789dup:p.Ser264fs	coding	Pathogenic
11	61774103	A	AAG	C61774107G	MYRF	NM_001127392.3(MYRF):c.1254_1255dup:p.Thr419fs	coding	Pathogenic
11	61779286	AG	A	G61779290C	MYRF	NM_001127392.3(MYRF):c.2041del:p.Ala681fs	coding	Pathogenic
11	61780241	CTG	C	G61780243A	MYRF	NM_001127392.3(MYRF):c.2358_2359del:p.Tyr787fs	coding	Pathogenic
11	61784321	C	CA	G61784325A	MYRF	NM_001127392.3(MYRF):c.3239dup:p.Glu1081fs	coding	Pathogenic
11	61785858	TC	T	C61785860G	MYRF	NM_013279.4(MYRF):c.3241del:p.Arg1081fs	coding	Pathogenic
11	61955084	TCCACCC	T	C61955100G	BEST1	NM_004183.4(BEST1):c.153-22CCACCC[2]	noncoding	Benign/Likely_benign
11	61955124	A	AAC	A61955128C	BEST1	NM_004183.4(BEST1):c.172_173dup:p.Gln58fs	coding	Pathogenic
11	61955135	AT	A	T61955136G	BEST1	NM_004183.4(BEST1):c.182del:p.Met61fs	coding	Pathogenic
11	61955202	GT	G	T61955203G	BEST1	NM_004183.4(BEST1):c.247+2del	noncoding	Pathogenic/Likely_pathogenic
11	61955800	GTCGGGCT	G	G61955804T	BEST1	NM_004183.4(BEST1):c.334_340del:p.Gly112fs	coding	Pathogenic
11	61955906	GC	AA	G61955906A	BEST1	NM_004183.4(BEST1):c.436_437delinsAA:p.Ala146Lys	coding	Pathogenic
11	61957461	AC	A	C61957462A	BEST1	NM_004183.4(BEST1):c.712del:p.Gln238fs	coding	Pathogenic
11	61958127	A	ATCCTCCTCC	C61958143T	BEST1	NM_004183.4(BEST1):c.715-18TCC[8]	noncoding	Benign/Likely_benign
11	61958207	AC	A	C61958210A	BEST1	NM_004183.4(BEST1):c.779del:p.Pro260fs	coding	Pathogenic
11	61958208	C	CAA	C61958209A	BEST1	NM_004183.4(BEST1):c.777_778insAA:p.Pro260fs	coding	Pathogenic
11	61959510	CTCA	C	T61959514A	BEST1	NM_004183.3(BEST1):c.884_886delTCA:p.Ile295del	coding	Pathogenic
11	61959936	GA	G	A61959937T	BEST1	NM_004183.4(BEST1):c.994del:p.Met332fs	coding	Pathogenic
11	61962272	T	TG	A61962275G	BEST1	NM_004183.4(BEST1):c.1120dup:p.Glu374fs	coding	Pathogenic
11	61962328	CG	C	G61962329C	BEST1	NM_004183.4(BEST1):c.1175del:p.Arg392fs	coding	Pathogenic
11	61962621	TCA	T	C61962624G	BEST1	NM_004183.4(BEST1):c.1468_1469CA[1]:p.His490fs	coding	Pathogenic
11	61962665	CTG	C	T61962668A	BEST1	NM_004183.4(BEST1):c.1512_1513TG[1]:p.Val505fs	coding	Pathogenic/Likely_pathogenic
11	62591588	AG	A	G62591590A	TUT1	NM_022830.2:c.11del	coding	Benign
11	62613517	T	TG	T62613521G	ROM1	NM_000327.3(ROM1):c.239dup:p.Val81fs	coding	Pathogenic
11	62614650	GC	G	C62614651A	ROM1	NM_000327.3(ROM1):c.868del:p.Gln290fs	coding	Benign/Likely_benign
11	62626052	ATTGGTCACT	A	T62626053C	GANAB	NM_198334.3(GANAB):c.2725+4_2725+12del	noncoding	Pathogenic
11	62626327	CCCATTA	C	A62626330T	GANAB	NM_198334.3(GANAB):c.2624+2_2624+7del	noncoding	Pathogenic
11	62629280	CCT	C	C62629281G	GANAB	NM_198334.3(GANAB):c.1848_1849del:p.Asp618fs	coding	Pathogenic
11	62633453	CA	C	A62633454T	GANAB	NM_198334.3(GANAB):c.621del:p.Asp207fs	coding	Pathogenic
11	62639457	TTC	T	C62639461G	GANAB	NM_198334.3(GANAB):c.150_151GA[1]:p.Arg51fs	coding	Pathogenic
11	62646583	GCCGCTA	G	T62646588C	GANAB	NM_198334.3(GANAB):c.11_16del:p.Val4_Ala5del	coding	Pathogenic
11	62690369	AGGAACTAGAGCAGGTGGGGCGCTGTC	A	A62690373G	BSCL2	NM_032667.6(BSCL2):c.1169_1194del:p.Arg390fs	coding	Pathogenic
11	62690830	ATC	A	C62690832G	BSCL2	NM_032667.6(BSCL2):c.916_917del:p.Asp306fs	coding	Pathogenic
11	62691310	G	GC	A62691318C	BSCL2	NM_032667.6(BSCL2):c.782dup:p.Ile262fs	coding	Pathogenic
11	62691342	G	GC	A62691344C	BSCL2	NM_032667.6(BSCL2):c.750dup:p.Leu251fs	coding	Pathogenic
11	62692384	AGTGAAGTGCGC	A	A62692388G	BSCL2	NM_032667.6(BSCL2):c.652_662del:p.Ala218fs	coding	Pathogenic
11	62692410	AG	A	G62692412C	BSCL2	NM_032667.6(BSCL2):c.636del:p.Tyr213fs	coding	Pathogenic
11	62692667	TTC	T	C62692673A	BSCL2	NM_032667.6(BSCL2):c.563_564GA[2]:p.Asn190fs	coding	Pathogenic
11	62694680	G	GT	A62694682T	BSCL2	NM_032667.6(BSCL2):c.325dup:p.Thr109fs	coding	Pathogenic
11	62694684	CACGAT	C	A62694688G	BSCL2	NM_032667.6(BSCL2):c.317_321del:p.Tyr106fs	coding	Pathogenic
11	62694689	TAC	T	A62694690G	BSCL2	NM_032667.6(BSCL2):c.315_316del:p.Tyr106fs	coding	Pathogenic
11	62694704	A	ATT	C62694706T	BSCL2	NM_032667.6(BSCL2):c.301_302insAA:p.Met101fs	coding	Pathogenic
11	62705320	GG	TCC	G62705320T	BSCL2	NM_032667.6(BSCL2):c.192_193delinsGGA:p.Ser64fs	coding	Pathogenic
11	62705320	G	TCC	G62705320T	BSCL2	NM_032667.6(BSCL2):c.193delinsGGA:p.Pro65fs	coding	Pathogenic
11	62705357	G	GAA	G62705360A	BSCL2	NM_032667.6(BSCL2):c.154_155dup:p.Tyr53fs	coding	Pathogenic
11	63636199	A	AT	A63636201T	ATL3	NM_015459.5(ATL3):c.978+7dup	noncoding	Benign
11	64211423	CAA	C	A64211424G	FERMT3	NM_031471.6(FERMT3):c.664_665del:p.Lys222fs	coding	Pathogenic
11	64219277	G	GT	A64219279T	FERMT3	NM_031471.6(FERMT3):c.814dup:p.Tyr272fs	coding	Pathogenic
11	64220289	CT	C	T64220290G	FERMT3	NM_031471.6(FERMT3):c.1275del:p.Glu426fs	coding	Pathogenic
11	64601795	A	ACCCTG	C64601810G	SLC22A12	NM_144585.4(SLC22A12):c.*249_*253GCCCT[3]	noncoding	Benign
11	64601841	AG	A	G64601845A	SLC22A12	NM_144585.4(SLC22A12):c.*294del	noncoding	Benign
11	64747271	C	CTGTTTGGGGG	A64747282T	PYGM	NM_005609.4(PYGM):c.2255_2264dup:p.Gln755fs	coding	Pathogenic
11	64747273	GT	G	T64747276G	PYGM	NM_005609.4(PYGM):c.2262del:p.Lys754fs	coding	Pathogenic/Likely_pathogenic
11	64747276	T	TG	A64747282G	PYGM	NM_005609.4(PYGM):c.2259dup:p.Lys754fs	coding	Pathogenic
11	64747354	T	TG	T64747356G	PYGM	NM_005609.4(PYGM):c.2181dup:p.Asn728fs	coding	Pathogenic
11	64750422	TGAA	T	A64750427T	PYGM	NM_005609.4(PYGM):c.2125_2127TTC[1]:p.Phe710del	coding	Pathogenic/Likely_pathogenic
11	64750476	TGG	T	G64750477T	PYGM	NM_005609.4(PYGM):c.2075_2076del:p.Thr692fs	coding	Pathogenic
11	64751345	CG	C	G64751347T	PYGM	NM_005609.4(PYGM):c.1948del:p.Arg650fs	coding	Pathogenic
11	64751966	GT	G	T64751969A	PYGM	NM_005609.4(PYGM):c.1725del:p.Lys575fs	coding	Pathogenic
11	64752089	GA	G	A64752091G	PYGM	NM_005609.4(PYGM):c.1621-19del	noncoding	Benign/Likely_benign
11	64752476	AGG	A	G64752477T	PYGM	NM_005609.4(PYGM):c.1545_1546del:p.Leu516fs	coding	Pathogenic
11	64752491	TC	T	C64752493T	PYGM	NM_005609.4(PYGM):c.1531del:p.Asp511fs	coding	Pathogenic
11	64753113	AG	A	G64753114C	PYGM	NM_005609.4(PYGM):c.1477del:p.Leu493fs	coding	Pathogenic
11	64753124	A	AG	T64753129G	PYGM	NM_005609.4(PYGM):c.1466dup:p.Arg490fs	coding	Pathogenic
11	64753949	ACCGGCCA	T	A64753949T	PYGM	NM_005609.4(PYGM):c.1162_1169delinsA:p.Trp388fs	coding	Pathogenic
11	64755536	TC	T	C64755537G	PYGM	NM_005609.4(PYGM):c.682del:p.Asp228fs	coding	Pathogenic
11	64758252	G	GC	G64758258C	PYGM	NM_005609.4(PYGM):c.521dup:p.Trp175fs	coding	Pathogenic
11	64758272	T	TA	T64758278A	PYGM	NM_005609.4(PYGM):c.501dup:p.Asn168Ter	coding	Pathogenic
11	64758452	GGCCCCCGTTGCCCA	G	C64758458G	PYGM	NM_005609.4(PYGM):c.395_408del:p.Leu132fs	coding	Pathogenic
11	64759730	CCAGAG	C	G64759733A	PYGM	NM_005609.4(PYGM):c.164_168del:p.Ala55fs	coding	Pathogenic
11	64759738	AAGT	A	A64759745C	PYGM	NM_005609.4(PYGM):c.152_154ACT[2]:p.Tyr53del	coding	Pathogenic
11	64759748	CTCGTGGGGTGGCCACATTGCGG	C	G64759751C	PYGM	NM_005609.4(PYGM):c.129_150del:p.Asp43fs	coding	Pathogenic
11	64759776	TACGAGTGTGAA	T	C64759778T	PYGM	NM_005609.4(PYGM):c.112_122del:p.Phe38fs	coding	Pathogenic
11	64759819	TCA	T	C64759820G	PYGM	NM_005609.4(PYGM):c.78_79del:p.Glu27fs	coding	Pathogenic/Likely_pathogenic
11	64759870	T	TTCTCTTGG	G64759882C	PYGM	NM_005609.4(PYGM):c.21_28dup:p.Lys10fs	coding	Pathogenic
11	64759884	CAG	C	A64759885G	PYGM	NM_005609.4(PYGM):c.13_14del:p.Leu5fs	coding	Pathogenic
11	64803513	ATATTTTTTTTAACAAAATGTATTCATCTTTCTTGGAACTGAAAAATAAATCTATGTACAAAACAGGAAGAGATCAGGCTCTTGTCACCCACTCCTAACCCTCTGCAGATTTCCTCCGGGATGCTCCGAGATGGGCTGGACCTCTGGGAGGTTCCCAGAGGGTCGGAAGGGAGGTCCTGCTCTGATCCGGGGCCAGTTTCGTCAGGAAGAGGGCGGGGCTCAGGATGCTCATAGGCTGGGGGCGGAGTTTTGTGTCCCAGACTCGGGATACGAAGGAGAGGAAACTAGGATTTCCAAATTCTGGAGCAGGACTGAAGTTATTTGGGGCAGGGAGCTTGGATTCGCAAGATATGGAATTCTGAAGTGCGGAAATATACTCCTAGGGGCTGAGTGGTCCTAGGCTCCCGGGCTGGAGGTGGGACCTGTGCTCCTTGGGTTAAGGGTGAAACCTCAGCTCCTACAAGCTGGGAGGAGCCCTGAGTAACGTTGGTCTGGCTCTAGGTGAGCGGTTCCGAGGAGGAGCTTGGGTTTCTAGGGGCTGGGCCTTTAAAGACTGGTAATTAGGACCCAGCGTGAGGTTTCCATTGGCCGGCTGGGATTCTGGGAGAAGAGACCTATATTCTAACGACTGGGGCAGAGCCCTGGGTTCTGAGCTGGAGAAAATCGTGGGTTTGATACAGACTGTACTCGGGACCGGGAACCTAGGGTTTGGGTAGAGGTGAGGCCTGTCCCCTTTGGGCTGGGGGCAGAACATGGGCTCAGAGTTGGGGGACTAAGGGCGGAGCCTGGGTCCCCACAAGCGGTCCGAAGTCCCCAGTAGTTCAGAGGCCTTTGCGCTGCCGCTTGAGGAAAGACAGAGTGTAGTCACTAGGGGTGGACACTTTCTGCTTCTTCATCTGCACTTGCGACTGTGCCGTGAGTTGCAGCTTGATGGCGCTCGAGTTGATCTTGGTGGCCACCAGCAGCTCCTTCATGCCCTTCATCTTCTCACTCTGGAAAGTGAGCACTGGACCCTCCGGCGGTGGTGATGCTGTGGGTGCTGGCACCTGAGCCGTGCTGCCACCTTCAGGGCCTCGGGCTGTGCCAGCGACAGTCCCAGGAGGCTTCCGGGGGGGTCCTGACACTGCACCCTGGCCGGTGCCCAGGCCCTTGTCCAGTGCTGGCTTCTTGGGCGGCGGGGGCTCCTCTGGCTTGGACTCCCGCCGTGGGCCCCGCCGCCGGCCTTCCCGGGCTTCCTCGCCCCACGGCTCCTCGGCCTCGGCCGCCTCGGCCTCTCGGCTCACTATGCGCACCTTCTGCCGCAC	A	T64803514C	MEN1	NM_000244.3(MEN1):c.1366_*820del:p.Val456fs	noncoding	Pathogenic
11	64804201	CGGGACCGGGAACCTAGGGTTTGGGTAGAGGTGAGGCCTGTCCCCTTTGGGCTGGGGGCAGAACATGGGCTCAGAGTTGGGGGACTAAGGGCGGAGCCTGGGTCCCCACAAGCGGTCCGAAGTCCCCAGTAGTTCAGAGGCCTTTGCGCTGCCGCTTGAGGAAAGACAGAGTGTAGTCACTAGGGGTGGACACTTTCTGCTTCTTCATCTGCACTTGCGACTGTGCCGTGAGTTGCAGCTTGATGGCGCTCGAGTTGATCTTGGTGGCCACCAGCAGCTCCTTCATGCCCTTCATCTTCTCACTCTGGAAAGTGAGCACTGGACCCTCCGGCGGTGGTGATGCTGTGGGTGCTGGCACCTGAGCCGTGCTGCCACCTTCAGGGCCTCGGGCTGTGCCAGCGACAGTCCCAGGAGGCTTCCGGGGGGGTCCTGACACTGCACCCTGGCCGGTGCCCAGGCCCTTGTCCAGTGCTGGCTTCTTGGGCGGCGGGGGCTCCTCTGGCTTGGACTCCCGCCGTGGGCCCCGCCGCCGGCCTTCCCGGGCTTCCTCGCCCCACGGCTCCTCGGCCTCGGCCGCCTCGGCCTCTCGGCTCACTATGCGCACCTTCTGCCGCACCT	C	A64804205C	MEN1	NM_000244.3(MEN1):c.1366-2_*132del	noncoding	Pathogenic
11	64804446	GCGCTCGAGTTGATCTTGGTGGCCACCAGCAGCTCCTTCATGCCCTTCATCTTCTCACTCTGGAAAGTGAGCACTGGAC	CA	G64804446C	MEN1	NM_000244.3(MEN1):c.1658_1736delinsTG:p.Gly553fs	coding	Pathogenic
11	64804481	C	CT	C64804484T	MEN1	NM_000244.3(MEN1):c.1700dup:p.Glu568fs	coding	Pathogenic
11	64804487	GCCCTTCAT	G	C64804489T	MEN1	NM_001370259.2(MEN1):c.1672_1679del:p.Met558fs	coding	Pathogenic
11	64804492	T	TC	A64804494C	MEN1	NM_000244.3(MEN1):c.1689dup:p.Lys564fs	coding	Pathogenic
11	64804496	CT	C	T64804498C	MEN1	NM_001370259.2(MEN1):c.1670del:p.Lys557fs	coding	Pathogenic
11	64804498	TCTCA	T	A64804502T	MEN1	NM_000244.3(MEN1):c.1680_1683del:p.Ser560fs	coding	Pathogenic/Likely_pathogenic
11	64804515	AG	A	G64804516C	MEN1	NM_000244.3(MEN1):c.1666del:p.Leu556fs	coding	Pathogenic
11	64804527	T	TCC	G64804530C	MEN1	NM_000244.3(MEN1):c.1653_1654dup:p.Glu552fs	coding	Pathogenic
11	64804548	G	GGTGCTGGCACCTGAGCC	C64804572G	MEN1	NM_000244.3(MEN1):c.1617_1633dup:p.Pro545fs	coding	Pathogenic
11	64804576	CT	C	T64804578C	MEN1	NM_000244.3(MEN1):c.1605del:p.Gly536fs	coding	Pathogenic
11	64804592	TG	T	G64804593T	MEN1	NM_000244.3(MEN1):c.1589del:p.Thr530fs	coding	Pathogenic
11	64804618	T	TC	G64804621C	MEN1	NM_000244.3(MEN1):c.1563dup:p.Lys522fs	coding	Pathogenic
11	64804620	C	CG	T64804628G	MEN1	NM_000244.3(MEN1):c.1561dup:p.Arg521fs	coding	Pathogenic
11	64804620	CG	C	G64804627T	MEN1	NM_000244.3(MEN1):c.1561del:p.Arg521fs	coding	Pathogenic
11	64804625	GGGTCCTGACA	G	G64804626C	MEN1	NM_001370259.2(MEN1):c.1532_1541del:p.Val511fs	coding	Pathogenic
11	64804632	G	GAC	T64804637A	MEN1	NM_000244.3(MEN1):c.1546_1547GT[3]:p.Ser517fs	coding	Pathogenic
11	64804634	C	CA	C64804636A	MEN1	NM_001370259.2(MEN1):c.1532dup:p.Ser512fs	coding	Pathogenic
11	64804636	CTG	C	T64804637C	MEN1	NM_000244.3(MEN1):c.1544_1545del:p.Ala515fs	coding	Pathogenic
11	64804659	C	CCCTT	G64804664C	MEN1	NM_000244.3(MEN1):c.1519_1522dup:p.Gly508fs	coding	Pathogenic
11	64804661	C	CT	G64804664T	MEN1	NM_000244.3(MEN1):c.1520dup:p.Leu509fs	coding	Pathogenic
11	64804679	CT	C	T64804681G	MEN1	NM_000244.3(MEN1):c.1502del:p.Lys501fs	coding	Pathogenic
11	64804693	GC	G	C64804694T	MEN1	NM_000244.3(MEN1):c.1488del:p.Glu496fs	coding	Pathogenic
11	64804702	GC	G	C64804703T	MEN1	NM_000244.3(MEN1):c.1479del:p.Lys493fs	coding	Pathogenic
11	64804729	GC	G	C64804731G	MEN1	NM_001370259.2(MEN1):c.1437del:p.Arg480fs	coding	Pathogenic
11	64804737	T	TC	G64804741C	MEN1	NM_000244.3(MEN1):c.1444dup:p.Glu482fs	coding	Pathogenic
11	64804746	TC	T	C64804748T	MEN1	NM_001370259.2(MEN1):c.1420del:p.Glu474fs	coding	Pathogenic
11	64804753	CCCACGGCTCCTCGG	C	A64804756T	MEN1	NM_000244.3(MEN1):c.1415_1428del:p.Ala472fs	coding	Pathogenic
11	64804753	C	CCCACGGCT	T64804764A	MEN1	NM_000244.3(MEN1):c.1421_1428dup:p.Gly477fs	coding	Pathogenic
11	64804762	C	CCTCGGCCTCGGCCGCCTCGGCCT	T64804792C	MEN1	NM_000244.3(MEN1):c.1397_1419dup:p.Glu474fs	coding	Pathogenic
11	64804777	C	AGG	C64804777A	MEN1	NM_000244.3(MEN1):c.1405delinsCCT:p.Ala469fs	coding	Pathogenic
11	64804777	C	CCTCGGCCT	T64804792C	MEN1	NM_000244.3(MEN1):c.1397_1404dup:p.Ala469fs	coding	Pathogenic
11	64804784	CTCTCGGCT	C	T64804785C	MEN1	NM_000244.3(MEN1):c.1390_1397del:p.Ser464fs	coding	Pathogenic
11	64804789	G	ACTATGT	G64804789A	MEN1	NM_000244.3(MEN1):c.1393delinsACATAGT:p.Arg465delinsThrTer	coding	Pathogenic
11	64805022	GCTGTCCCTCAC	G	C64805033A	MEN1	NM_000244.3(MEN1):c.1365+1_1365+11del	noncoding	Pathogenic
11	64805037	TC	T	C64805040T	MEN1	NM_001370259.2(MEN1):c.1346del:p.Gly449fs	coding	Pathogenic
11	64805042	CA	C	A64805046C	MEN1	NM_000244.3(MEN1):c.1356del:p.Phe452fs	coding	Pathogenic
11	64805047	CG	C	G64805049C	MEN1	NM_000244.3(MEN1):c.1351del:p.Arg451fs	coding	Pathogenic
11	64805049	GC	G	C64805051T	MEN1	NM_000244.3(MEN1):c.1349del:p.Gly450fs	coding	Pathogenic
11	64805053	AG	A	G64805056A	MEN1	NM_000244.3(MEN1):c.1345del:p.Ser448_Leu449insTer	coding	Pathogenic
11	64805063	CAAGA	C	A64805067G	MEN1	NM_001370259.2(MEN1):c.1317_1320del:p.Phe439fs	coding	Pathogenic
11	64805072	TG	T	G64805074C	MEN1	NM_001370259.2(MEN1):c.1311del:p.Thr438fs	coding	Pathogenic
11	64805127	GCCGT	G	C64805129G	MEN1	NM_000244.3(MEN1):c.1268_1271del:p.Asp423fs	coding	Pathogenic
11	64805129	CGTCGTAGA	C	G64805130A	MEN1	NM_000244.3(MEN1):c.1262_1269del:p.Phe421fs	coding	Pathogenic
11	64805136	G	GA	T64805139A	MEN1	NM_000244.3(MEN1):c.1262dup:p.Tyr422fs	coding	Pathogenic
11	64805159	A	AGGAC	C64805160G	MEN1	NM_000244.3(MEN1):c.1239_1240insGTCC:p.Cys414fs	coding	Pathogenic
11	64805162	CAG	C	A64805163G	MEN1	NM_000244.3(MEN1):c.1235_1236del:p.Pro412fs	coding	Pathogenic
11	64805163	AGG	A	G64805165T	MEN1	NM_000244.3(MEN1):c.1234_1235del:p.Asp411_Pro412insTer	coding	Pathogenic
11	64805169	C	CT	G64805171T	MEN1	NM_000244.3(MEN1):c.1229dup:p.Asp411fs	coding	Pathogenic
11	64805177	CG	C	G64805179A	MEN1	NM_001370259.2(MEN1):c.1206del:p.Ala403fs	coding	Pathogenic
11	64805181	AC	A	C64805183T	MEN1	NM_001370259.2(MEN1):c.1202del:p.Gly401fs	coding	Pathogenic
11	64805190	C	CT	G64805192T	MEN1	NM_000244.3(MEN1):c.1208dup:p.Ser404fs	coding	Pathogenic
11	64805645	TC	T	C64805650G	MEN1	NM_130799.2(MEN1):c.1174del:p.Glu392fs	coding	Pathogenic/Likely_pathogenic
11	64805664	C	CCG	C64805668G	MEN1	NM_001370259.2(MEN1):c.1154_1155dup:p.Gly386fs	coding	Pathogenic
11	64805683	T	TG	C64805685G	MEN1	NM_001370259.2(MEN1):c.1136dup:p.Ala380fs	coding	Pathogenic
11	64805688	CCTTCAGCAGGTTGGGGATGACATCATTGGCTA	C	G64805694A	MEN1	NM_001370259.2(MEN1):c.1100_1131del:p.Val367fs	coding	Pathogenic
11	64805709	CA	C	A64805710T	MEN1	NM_000244.3(MEN1):c.1125del:p.Asp375fs	coding	Pathogenic
11	64805730	ACTC	A	C64805733T	MEN1	NM_000244.3(MEN1):c.1102_1104del:p.Glu368del	coding	Pathogenic
11	64805745	CC	TT	C64805745T	MEN1	NM_000244.3(MEN1):c.1089_1090delinsAA:p.Glu364Lys	coding	Pathogenic
11	64805912	GCCCAGAGGAAGAAAGCAAGAATGAGGAGGGGGGCATGGGGCCGAGGGTGGAAGTCCCACTGCTGGATGATGGTGGTTAAACATTGGAGATTTGAGACTGTTCTGAGAAAAAAAAAATTAGGAGGAGAGGGGAGGGAGGGAAAGATGTGACACCTTAATCAGGGTCCCTACCTCCTGGGTAATGGTGGCCTTGCTGCCTAGGGACTGGATGGAAAGGGGATGGGGCGTGGGAGCCAGGCCTCAGTCCTGGACGAGGGTGGTTGGAAACTGATGGAGGGGAAGAAAGGACAGGCTGCAGGCCCTAGTAGGGGGATCCTCACTCCTGGATGACAGTGGCCGTGTCCGCCCAGGCCTGCAGGGCTTCCCGCACATTGCGGTTGCGACAGTGGTAGCCAGCCAGGTACATGTAGGGGTAGATGTGTTCATCCCGATAGTAGGTCTTGGCTGAGGCAATGCCCTGGATGGAGGTGAGGCAGAGGATCCTCAGGGAGGCAGCCCCAGCTGCCCTGCTGGCACAAATGCCCCACCAGGGCACACCCAGAAGGGGCCACAGGAAGATCCCAGGGAGTCCTCTCCATCTCCACTCCCACCTCCACTCGCTGCCAGCCCTTCTACCTGGTCTCCTCCCTGGGTCTACAGGACTGCTGGCTGAGGCCTGGGGCAGACTGCAGGGGTGGGGCCTGCCCTCCGAGCTCAGGGCCCTTCTCTTTCTCAGACACTCTTCTACACATCACCAAAGACTTTCAAGCCCAGCCCAATGGCCCTCCTCCCCACCTACACCCACCAAGTGAACACCCCCTCTTCATCAGTGCTCCTGCCACATTTGACCTCTGTTATACTCCAGGAAGGACAGTAAGCAGTGGCAGAAAAGGCAGGGCTGAGGGGACAAATGCAGCCCCTGCCACTCCCAGGCTGGGGAACCCTGGACACCCCTCAGACAGCCCTGACTGAACTGATTCTGCACACAGTTGACACAAAGTGAGACTGGATGGGCGATACCCCCCAACACACAAAGTTCTCTTCTCATCTGCCCAGATGAGGGCCCCTGCCTCAGCCACTGTTAGGGTCTCCCTTCTGCACCCTCCTTAGATGCCCCCACCTTGTGGTAGAGGGTGAGTGGGTCTGGCCGGCCAGGGGTGGGCTCCAGCTCCTCTAGATCTGCCAGGTTCCCTAAGGCCATGGGGTACCTAGGAAAGGATCATAATTCAGGCTGCCACCCAGCCCCCCGGCCTCACCAGGCGCAGCCTGGCCACTTCCCTCTACTGACCTTTCCAGATGTCCCAGGTCATAGAGCAGCCAGAGCAGCTTCTAGGAGCCGAAGGAGAGAGTTATGAGCCACGGAACAGGGAGGAGAACGGGTCCTTAGCCTATCGGGCAGAGGTGGGGGTCAGAACCAACAGGGACCACCCACCATGTGGAAGGGCCAAAATTCTGGGACCAGCCCTTTAATGGAGTCAAAGCAATTTCACATCTCAATTCTACTCTCCCAAGAGCCCTGGGAAAGGCCAGGCCAGGAATTACTAACCCATTTTTCCAGGAGGGGAAGCTGAAGCTCAGGAAGGGAAAGTGCCCCTGCCCAGGGTCCCACAGCAAGTCAAGTCTGGCCTAGCCCAGTCCTGCCCCATTGGCTCAGCCCTCACCTGCTGCAGCTGCAGAAGCTCCAGCGAGTCGGTGTGCAGGTCAATGGAAGGGTTGATGGCACACACCATGAACGCCACCTCCATCTTGCGGTCACAGCGCATGTATGATCCTTTCAGGTACAGCCAGCTCTTAGGGGGGGATGAGATCATTATGTCTCATGATGGCCCACCCTGTGCCTGCTTCAGGGAATGACAGCCAGGAAAAGGGGCTCTTCTGTCTTCCCTTCCTATGTGGGTGGTGATGGGAAGAAAGGGGTGTGGCCCAAGAAAATGGAGTCCCTTGGGTGGCTTGGGCTACTACAGTATGAAGGGGACAAGGCTGGGGGGAGGGAACAATACCCGCTCAGCCACACCGGCATTGACTGTCTGGC	G	A64805916T	MEN1	NM_000244.3(MEN1):c.638_1065-143del	noncoding	Pathogenic
11	64805996	TGGAGATTTGAGACTGTTCTGAGAAAAAAAAAATTAGGAGGAGAGGGGAGGGAGGGAAAGATGTGACACCTTAATCAGGGTCCCTACCTCCTGGGTAATGGTGGCCTTGCTGCCTAGGGACTGGATGGAAAGGGGATGGGGCGTGGGAGCCAGGCCTCAGTCCTGGACGAGGGTGGTTGGAAACTGATGGAGGGGAAGAAAGGACAGGCTGCAGGCCCTAGTAGGGGGATCCTCACTCCTGGATGACAGTGGCCGTGTCCGCCCAGGCCTGCAGGGCTTCCCGCACATTGCGGTTGCGACAGTGGTAGCCAGCCAGGTACATGTAGGGGTAGATGTGTTCATCCCG	T	G64805997A	MEN1	NM_000244.3(MEN1):c.955_1065-227del	noncoding	Pathogenic
11	64806256	GCCCAGGC	G	C64806258T	MEN1	NM_001370259.2(MEN1):c.1018_1024del:p.Ala340fs	coding	Pathogenic
11	64806256	GC	G	C64806259A	MEN1	NM_130799.2(MEN1):c.1024delG:p.Ala342Argfs	coding	Pathogenic
11	64806275	C	CCCGCA	A64806282C	MEN1	NM_000244.3(MEN1):c.1016_1020dup:p.Glu341fs	coding	Pathogenic
11	64806277	C	AA	C64806277A	MEN1	NM_000244.3(MEN1):c.1019delinsTT:p.Arg340fs	coding	Pathogenic
11	64806310	AG	A	G64806312T	MEN1	NM_000244.3(MEN1):c.985del:p.Leu329fs	coding	Pathogenic
11	64806313	TA	T	A64806314C	MEN1	NM_000244.3(MEN1):c.982del:p.Tyr328fs	coding	Pathogenic
11	64806323	GGTAGATGT	G	A64806326T	MEN1	NM_000244.3(MEN1):c.965_972del:p.His322fs	coding	Pathogenic
11	64806366	GC	G	C64806369T	MEN1	NM_130799.2(MEN1):c.914del	coding	Pathogenic
11	64807011	CT	C	T64807013G	MEN1	NM_001370259.2(MEN1):c.911del:p.Lys304fs	coding	Pathogenic
11	64807095	GTACC	AACCTCTAGGTA	G64807095A	MEN1	NM_001370259.2(MEN1):c.825-1_828delinsTACCTAGAGGTT	coding	Pathogenic
11	64807179	CT	C	T64807182C	MEN1	NM_000244.3(MEN1):c.838del:p.Arg280fs	coding	Pathogenic
11	64807576	CG	C	G64807577A	MEN1	NM_001370259.2(MEN1):c.758del:p.Ser253fs	coding	Pathogenic
11	64807585	G	GTGCA	G64807590T	MEN1	NM_000244.3(MEN1):c.761_764dup:p.Thr256fs	coding	Pathogenic
11	64807589	AGGTCAAT	A	T64807592A	MEN1	NM_000244.3(MEN1):c.754_760del:p.Ile252fs	coding	Pathogenic
11	64807600	AG	A	G64807603T	MEN1	NM_001370259.2(MEN1):c.734del:p.Pro245fs	coding	Pathogenic
11	64807600	AGGGTTGAT	A	G64807603C	MEN1	NM_000244.3(MEN1):c.742_749del:p.Ile248fs	coding	Pathogenic
11	64807610	GCA	G	A64807616C	MEN1	NM_001370259.2(MEN1):c.719_720TG[2]:p.Ala242fs	coding	Pathogenic
11	64807625	G	GCCAC	T64807631C	MEN1	NM_000244.3(MEN1):c.721_724dup:p.Ala242fs	coding	Pathogenic
11	64807638	T	TG	C64807640G	MEN1	NM_001370259.2(MEN1):c.696dup:p.Lys233fs	coding	Pathogenic
11	64807649	C	CGCAT	T64807655C	MEN1	NM_000244.3(MEN1):c.697_700dup:p.Arg234fs	coding	Pathogenic
11	64807684	A	AG	A64807692G	MEN1	NM_000244.3(MEN1):c.670-11dup	noncoding	Benign/Likely_benign
11	64807889	AC	A	C64807892G	MEN1	NM_000244.3(MEN1):c.669+1del	noncoding	Pathogenic
11	64807905	CG	C	G64807907C	MEN1	NM_001370259.2(MEN1):c.639del:p.Gly214fs	coding	Pathogenic
11	64807911	TG	T	G64807912A	MEN1	NM_000244.3(MEN1):c.648del:p.Asn217fs	coding	Pathogenic
11	64807913	ACTGT	A	T64807917G	MEN1	NM_000244.3(MEN1):c.643_646del:p.Thr215fs	coding	Pathogenic
11	64807919	TG	T	G64807921C	MEN1	NM_000244.3(MEN1):c.640del:p.Gln214fs	coding	Pathogenic
11	64807967	GT	G	T64807968C	MEN1	NM_001370259.2(MEN1):c.577del:p.Thr193fs	coding	Pathogenic
11	64807980	TGG	T	G64807982C	MEN1	NM_000244.3(MEN1):c.578_579del:p.Pro193fs	coding	Pathogenic
11	64808014	CA	C	A64808015G	MEN1	NM_000244.3(MEN1):c.545del:p.Leu182fs	coding	Pathogenic
11	64808014	CAG	C	A64808015G	MEN1	NM_000244.3(MEN1):c.544_545del:p.Leu182fs	coding	Pathogenic
11	64808019	C	CAA	G64808020A	MEN1	NM_001370259.2(MEN1):c.525_526insTT:p.Ala176fs	coding	Pathogenic
11	64808054	GC	A	G64808054A	MEN1	NM_000244.3(MEN1):c.505_506delinsT:p.Ala169fs	coding	Pathogenic
11	64809667	GT	G	T64809668G	MEN1	NM_001370259.2(MEN1):c.442del:p.Thr148fs	coding	Pathogenic
11	64809677	TG	T	G64809678A	MEN1	NM_000244.3(MEN1):c.432del:p.Phe144fs	coding	Pathogenic
11	64809678	GAAG	AAT	G64809678A	MEN1	NM_000244.3(MEN1):c.429_432delinsATT:p.Phe144fs	coding	Pathogenic
11	64809678	GA	TT	G64809678T	MEN1	NM_000244.3(MEN1):c.431_432delinsAA:p.Phe144Ter	coding	Pathogenic
11	64809692	TG	T	G64809693T	MEN1	NM_000244.3(MEN1):c.417del:p.His139fs	coding	Pathogenic
11	64809695	GGGCCCGATC	AGGGA	G64809695A	MEN1	NM_000244.3(MEN1):c.406_415delinsTCCCT:p.Asp136fs	coding	Pathogenic
11	64809707	TG	T	G64809708A	MEN1	NM_000244.3(MEN1):c.402del:p.Phe134fs	coding	Pathogenic
11	64809723	GA	G	A64809724G	MEN1	NM_000244.3(MEN1):c.386del:p.Leu129fs	coding	Pathogenic
11	64809731	TC	T	C64809733A	MEN1	NM_000244.3(MEN1):c.378del:p.Ile125_Trp126insTer	coding	Pathogenic
11	64809737	TGA	T	G64809738C	MEN1	NM_000244.3(MEN1):c.371_372del:p.Val124fs	coding	Pathogenic
11	64809742	TC	T	C64809743G	MEN1	NM_001370259.2(MEN1):c.367del:p.Asp123fs	coding	Pathogenic
11	64809749	CCTT	C	T64809754A	MEN1	NM_001370259.2(MEN1):c.355_357AAG[1]:p.Lys120del	coding	Pathogenic
11	64809759	CA	C	A64809760G	MEN1	NM_000244.3(MEN1):c.350del:p.Leu117fs	coding	Pathogenic
11	64809769	C	CT	G64809771T	MEN1	NM_000244.3(MEN1):c.340dup:p.Ser114fs	coding	Pathogenic
11	64809773	AG	A	G64809774A	MEN1	NM_000244.3(MEN1):c.336del:p.Ser113fs	coding	Pathogenic
11	64809777	A	AC	T64809783C	MEN1	NM_000244.3(MEN1):c.332dup:p.Val112fs	coding	Pathogenic
11	64809786	TC	T	C64809787G	MEN1	NM_000244.3(MEN1):c.323del:p.Arg108fs	coding	Pathogenic
11	64809787	C	CA	G64809788A	MEN1	NM_000244.3(MEN1):c.322_323insT:p.Arg108fs	coding	Pathogenic
11	64809791	GAT	G	T64809793G	MEN1	NM_000244.3(MEN1):c.317_318del:p.Tyr106fs	coding	Pathogenic
11	64809794	A	AGAGG	C64809801G	MEN1	NM_001370259.2(MEN1):c.312_315dup:p.Tyr106fs	coding	Pathogenic
11	64809802	AG	A	G64809804T	MEN1	NM_000244.3(MEN1):c.307del:p.Leu103fs	coding	Pathogenic
11	64809825	G	GGCGGT	A64809832C	MEN1	NM_000244.3(MEN1):c.280_284dup:p.Gln96fs	coding	Pathogenic
11	64809833	AGCGG	A	G64809836A	MEN1	NM_000244.3(MEN1):c.273_276del:p.Arg92fs	coding	Pathogenic
11	64809839	C	CAT	G64809843T	MEN1	NM_001370259.2(MEN1):c.269_270dup:p.Ala91fs	coding	Pathogenic
11	64809844	AG	A	G64809847C	MEN1	NM_000244.3(MEN1):c.265del:p.Leu89fs	coding	Pathogenic
11	64809857	TAGAC	T	A64809860G	MEN1	NM_000244.3(MEN1):c.249_252del:p.Ile85fs	coding	Pathogenic
11	64809857	T	TAA	G64809859A	MEN1	NM_000244.3(MEN1):c.252_253insTT:p.Ile85fs	coding	Pathogenic
11	64809857	T	TA	G64809859A	MEN1	NM_000244.3(MEN1):c.252dup:p.Ile85fs	coding	Pathogenic/Likely_pathogenic
11	64809872	CG	C	G64809875A	MEN1	NM_000244.3(MEN1):c.237del:p.Val80fs	coding	Pathogenic
11	64809886	AG	A	G64809888C	MEN1	NM_000244.3(MEN1):c.223del:p.Leu75fs	coding	Pathogenic
11	64809889	CCG	C	G64809891C	MEN1	NM_001370259.2(MEN1):c.219_220del:p.Gly74fs	coding	Pathogenic
11	64809897	CGG	C	G64809899T	MEN1	NM_000244.3(MEN1):c.211_212del:p.Pro71fs	coding	Pathogenic
11	64809902	CG	C	G64809907C	MEN1	NM_000244.3(MEN1):c.207del:p.Asp70fs	coding	Pathogenic
11	64809903	G	GGGGGC	T64809914G	MEN1	NM_000244.3(MEN1):c.197_201GCCCC[3]:p.Asp70fs	coding	Pathogenic
11	64809909	G	GGGGCT	A64809922G	MEN1	NM_000244.3(MEN1):c.191_195AGCCC[3]:p.Asp70fs	coding	Pathogenic
11	64809941	TG	T	G64809943T	MEN1	NM_000244.3(MEN1):c.168del:p.Asn57fs	coding	Pathogenic/Likely_pathogenic
11	64809945	A	AG	A64809949G	MEN1	NM_000244.3(MEN1):c.164dup:p.Thr56fs	coding	Pathogenic
11	64809957	GT	G	T64809959G	MEN1	NM_000244.3(MEN1):c.152del:p.Asn51fs	coding	Pathogenic
11	64809962	C	CA	G64809964A	MEN1	NM_000244.3(MEN1):c.147dup:p.Val50fs	coding	Pathogenic
11	64809967	AG	A	G64809968A	MEN1	NM_000244.3(MEN1):c.142del:p.Leu48fs	coding	Pathogenic
11	64810004	G	GC	A64810006C	MEN1	NM_000244.3(MEN1):c.105dup:p.Leu36fs	coding	Pathogenic
11	64810021	TCTCGGCCCAG	T	C64810028A	MEN1	NM_000244.3(MEN1):c.79_88del:p.Leu27fs	coding	Pathogenic
11	64810052	C	CA	C64810053A	MEN1	NM_000244.3(MEN1):c.57_58insT:p.Val20fs	coding	Pathogenic
11	64810054	AC	A	C64810055G	MEN1	NM_000244.3(MEN1):c.55del:p.Val19fs	coding	Pathogenic
11	64810067	A	AGC	A64810072G	MEN1	NM_001370259.2(MEN1):c.39_40GC[3]:p.Ser15fs	coding	Pathogenic
11	64810077	GA	G	A64810079C	MEN1	NM_001370259.2(MEN1):c.32del:p.Phe11fs	coding	Pathogenic
11	64810092	GGC	G	C64810094G	MEN1	NM_000244.3(MEN1):c.16_17del:p.Ala6fs	coding	Pathogenic
11	65108889	CCTT	C	T65108892C	VPS51	NM_013265.4(VPS51):c.1421_1423del:p.Phe474del	coding	Pathogenic
11	65111468	GC	G	C65111470G	VPS51	NM_013265.4(VPS51):c.2232del:p.Asp745fs	coding	Pathogenic
11	65182883	T	TC	G65182890C	CAPN1	NM_005186.4(CAPN1):c.188dup:p.Val64fs	coding	Pathogenic
11	65183541	TC	T	C65183543G	CAPN1	NM_005186.4(CAPN1):c.407del:p.Pro136fs	coding	Pathogenic
11	65183550	C	CTATGCGGAACCATAGCTT	C65183551T	CAPN1	NM_005186.4(CAPN1):c.414_415insTATGCGGAACCATAGCTT:p.Gln139delinsTyrAlaGluProTer	coding	Pathogenic
11	65183551	C	CAT	G65183553T	CAPN1	NM_005186.4(CAPN1):c.416_417insTA:p.Gln139fs	coding	Pathogenic
11	65183553	G	GCTTCAT	A65183554C	CAPN1	NM_005186.4(CAPN1):c.417_418insCTTCAT:p.Ser140_Phe141insLeuHis	coding	Pathogenic
11	65186193	TGTCAG	T	T65186195G	CAPN1	NM_005186.4(CAPN1):c.616_620del:p.Ser206fs	coding	Pathogenic
11	65186196	CAG	C	A65186197G	CAPN1	NM_005186.4(CAPN1):c.618_619del:p.Gly208fs	coding	Pathogenic
11	65526146	AC	A	C65526147G	SCYL1	NM_020680.4(SCYL1):c.399del:p.Asn133fs	coding	Pathogenic/Likely_pathogenic
11	65530714	AG	A	G65530716T	SCYL1	NM_020680.4(SCYL1):c.937del:p.Val313fs	coding	Pathogenic
11	65535339	CCA	C	C65535342G	SCYL1	NM_020680.4(SCYL1):c.1346_1347del:p.Thr449fs	coding	Pathogenic
11	65536072	CTG	C	T65536075C	SCYL1	NM_020680.4(SCYL1):c.1507_1508TG[1]:p.Ala504fs	coding	Pathogenic
11	65536099	C	CT	G65536101T	SCYL1	NM_020680.4(SCYL1):c.1534dup:p.Cys512fs	coding	Pathogenic
11	65538000	CCA	C	C65538001G	SCYL1	NM_020680.4(SCYL1):c.2066_2067del:p.Pro689fs	coding	Pathogenic
11	65543546	AC	A	C65543547A	LTBP3	NM_021070.4(LTBP3):c.2356del:p.Val786fs	coding	Pathogenic
11	65546811	GC	G	C65546817T	LTBP3	NM_021070.4(LTBP3):c.2216del:p.Gly739fs	coding	Pathogenic
11	65547461	GGCTTTGAGCCGGTA	G	T65547464C	LTBP3	NM_021070.4(LTBP3):c.2071_2084del:p.Tyr691fs	coding	Pathogenic
11	65547808	G	GC	A65547810C	LTBP3	NM_021070.4(LTBP3):c.1859dup:p.Cys620fs	coding	Pathogenic
11	65557827	GC	G	C65557834T	LTBP3	NM_001164266.1(LTBP3):c.-216del	coding	Pathogenic
11	65557854	C	CCAGCAG	G65557886A	LTBP3	NM_001164266.1(LTBP3):c.-272_-270CTG[12]	coding	Benign
11	65557854	C	CCAG	G65557886A	LTBP3	NM_001164266.1(LTBP3):c.-272_-270CTG[11]	coding	Benign
11	65720319	CCTT	C	T65720325C	RNASEH2C	NM_032193.4(RNASEH2C):c.265_267AAG[1]:p.Lys90del	coding	Benign/Likely_benign
11	65867957	A	AGCGG	A65867964G	EFEMP2	NM_016938.5(EFEMP2):c.1070_1073dup:p.Asp359fs	coding	Pathogenic
11	65870150	TG	T	G65870152A	EFEMP2	NM_016938.5(EFEMP2):c.577del:p.Gln193fs	coding	Pathogenic
11	65888042	T	TTTA	G65888043T	FIBP	NM_004214.5(FIBP):c.175_176insTAA:p.His59delinsLeuAsn	coding	Pathogenic
11	66025431	C	CGCCAT	G66025438C	CATSPER1	NM_053054.4(CATSPER1):c.944_948dup:p.Asp317fs	coding	Pathogenic
11	66025840	G	GA	G66025842A	CATSPER1	NM_053054.4(CATSPER1):c.539dup:p.His182fs	coding	Pathogenic
11	66346724	C	CAA	T66346725A	B4GAT1	NM_006876.3(B4GAT1):c.821_822insTT:p.Glu274fs	coding	Pathogenic/Likely_pathogenic
11	66510645	ACGACGCCTGCGAAGATGGCCGCTGCGTCCTCATCGGATTC	A	A66510657G	BBS1	NM_024649.5(BBS1):c.-3_37del:p.Met1fs	noncoding	Pathogenic
11	66510675	T	TC	A66510677C	BBS1	NM_024649.5(BBS1):c.17dup:p.Ser7fs	coding	Pathogenic/Likely_pathogenic
11	66511034	G	GT	G66511037T	BBS1	NM_024649.5(BBS1):c.71dup:p.Leu24fs	coding	Pathogenic
11	66511040	TG	T	G66511041C	BBS1	NM_024649.5(BBS1):c.76del:p.Ala26fs	coding	Pathogenic
11	66511082	CT	C	T66511083G	BBS1	NM_024649.5(BBS1):c.118del:p.Cys40fs	coding	Pathogenic
11	66514468	ACT	A	C66514469G	BBS1	NM_024649.5(BBS1):c.223_224del:p.Leu75fs	coding	Pathogenic/Likely_pathogenic
11	66514564	T	TG	C66514566G	BBS1	NM_024649.5(BBS1):c.319dup:p.Ala107fs	coding	Pathogenic
11	66514590	A	AT	A66514592T	BBS1	NM_024649.5(BBS1):c.345dup:p.Lys116Ter	coding	Pathogenic/Likely_pathogenic
11	66519617	ACAGT	A	G66519620T	BBS1	NM_024649.5(BBS1):c.595_598del:p.Val199fs	coding	Pathogenic
11	66519711	TG	T	G66519713T	BBS1	NM_024649.5(BBS1):c.688del:p.Val230fs	coding	Pathogenic
11	66521312	CA	C	A66521313G	BBS1	NM_024649.5(BBS1):c.767del:p.Gln256fs	coding	Pathogenic
11	66523475	TA	T	A66523476C	BBS1	NM_024649.5(BBS1):c.851del:p.Tyr284fs	coding	Pathogenic
11	66523511	AT	A	T66523512C	BBS1	NM_024649.5(BBS1):c.887del:p.Ile296fs	coding	Pathogenic
11	66523841	AT	A	T66523844A	BBS1	NM_024649.5(BBS1):c.1072del:p.Tyr358fs	coding	Pathogenic
11	66526124	A	ATGTG	C66526127T	BBS1	NM_024649.5(BBS1):c.1113_1114TG[3]:p.Ala372fs	coding	Pathogenic
11	66526134	C	CA	G66526136A	BBS1;ZDHHC24	NM_024649.5(BBS1):c.1123dup:p.Ser375fs	coding	Pathogenic
11	66526137	CCTTTG	C	C66526143G	BBS1	NM_024649.5(BBS1):c.1126_1130CTTTG[1]:p.Cys377fs	coding	Pathogenic/Likely_pathogenic
11	66526695	AGAGG	A	G66526700A	BBS1	NM_024649.5(BBS1):c.1228_1231GAGG[1]:p.Gly411fs	coding	Pathogenic/Likely_pathogenic
11	66526701	AG	A	G66526703A	BBS1	NM_024649.5(BBS1):c.1235del:p.Gly412fs	coding	Pathogenic
11	66526709	AG	A	G66526711T	BBS1	NM_024649.5(BBS1):c.1243del:p.Val415fs	coding	Pathogenic
11	66526749	G	GC	G66526754C	BBS1	NM_024649.5(BBS1):c.1285dup:p.Arg429fs	coding	Pathogenic
11	66529902	C	CT	G66529904T	BBS1	NM_024649.5(BBS1):c.1424dup:p.Ser476fs	coding	Pathogenic
11	66530933	CTG	C	T66530934C	BBS1	NM_024649.5(BBS1):c.1514_1515del:p.Leu505fs	coding	Pathogenic
11	66531658	AC	A	C66531661T	BBS1	NM_024649.5(BBS1):c.1614del:p.Leu539fs	coding	Pathogenic
11	66531684	AC	A	C66531689T	BBS1	NM_024649.5(BBS1):c.1642del:p.Leu548fs	coding	Pathogenic
11	66565840	AG	A	G66565841A	CTSF	NM_003793.4(CTSF):c.954del:p.Ser319fs	coding	Pathogenic
11	66566044	GCC	G	C66566048T	CTSF	NM_003793.4(CTSF):c.843_844del:p.Ala282fs	coding	Pathogenic
11	66567401	TGGCTCCTCAAGCTGAG	T	A66567427C	CTSF	NM_003793.4(CTSF):c.531+27_531+42del	noncoding	Benign
11	66568076	G	GC	A66568077C	CTSF	NM_003793.4(CTSF):c.219_220insG:p.Gln74fs	coding	Pathogenic
11	66568077	A	AGGG	C66568078G	CTSF	NM_003793.4(CTSF):c.218_219insCCC:p.Gln74_Gly75insPro	coding	Pathogenic
11	66701230	CTGAGG	C	G66701235A	SPTBN2	NM_006946.3(SPTBN2):c.2864_2868del:p.Thr955fs	coding	Pathogenic
11	66707534	GTCCATGAGGTAGAGCAGGTCCTGGAACACCTTCTGCAGC	G	T66707539G	SPTBN2	NM_006946.3(SPTBN2):c.1596_1634del:p.Glu532_Met544del	coding	Pathogenic
11	66708227	TCTC	T	C66708230G	SPTBN2	NM_006946.3(SPTBN2):c.1261_1263del:p.Glu421del	coding	Pathogenic
11	66801039	A	AT	G66801041T	C11orf80	NM_024650.3(C11orf80):c.783dup:p.Glu262Ter	coding	Pathogenic
11	66849025	CAG	C	A66849026G	PC	NM_001040716.2(PC):c.3409_3410del:p.Leu1137fs	coding	Pathogenic
11	66849958	G	GA	C66849961A	PC	NM_001040716.2(PC):c.2876dup:p.Glu961fs	coding	Pathogenic
11	66850443	AAC	A	A66850446G	PC	NM_001040716.2(PC):c.2491_2492GT[1]:p.Val831_Phe832insTer	coding	Pathogenic
11	66866203	T	TC	G66866206C	PC	NM_001040716.2(PC):c.1168dup:p.Asp390fs	coding	Pathogenic
11	66871350	T	TCTC	C66871355T	PC	NM_001040716.2(PC):c.449_451dup:p.Gly150dup	coding	Pathogenic
11	66871426	CCGCT	C	G66871432A	PC	NM_001040716.2(PC):c.368_371AGCG[1]:p.Ala125fs	coding	Pathogenic
11	67365147	GAGCCCCC	G	C67365150G	CLCF1	NM_013246.3(CLCF1):c.660_666del:p.Gly221fs	coding	Benign
11	67455484	CC	A	C67455484A	CABP4	NM_001300895.2(CABP4):c.-323_-322delinsA	coding	Pathogenic
11	67455504	T	TA	C67455505A	CABP4	NM_001300895.2(CABP4):c.-303_-302insA	coding	Pathogenic
11	67456355	C	CG	A67456359G	CABP4	NM_145200.5(CABP4):c.457dup:p.Glu153fs	coding	Pathogenic
11	67458628	CAG	C	A67458631T	CABP4	NM_145200.3(CABP4):c.800_801delAG:p.Glu267Valfs	noncoding	Pathogenic/Likely_pathogenic
11	67459039	A	AT	A67459054T	CABP4	NM_145200.4(CABP4):c.*394dup	noncoding	Benign
11	67483223	GAGGAGA	G	A67483224G	AIP	NM_003977.4(AIP):c.66_71del:p.Gly23_Glu24del	coding	Pathogenic/Likely_pathogenic
11	67490110	CT	C	T67490112A	AIP	NM_003977.4(AIP):c.543del:p.Ile182fs	coding	Pathogenic/Likely_pathogenic
11	67490332	CT	C	T67490333G	AIP	NM_003977.4(AIP):c.663del:p.Glu222fs	coding	Pathogenic
11	67490802	T	TACTTCAAGCGGGGCAAGGCCC	G67490826T	AIP	NM_003977.4(AIP):c.805_825dup:p.Phe269_His275dup	coding	Pathogenic
11	67490823	C	CA	C67490825A	AIP	NM_003977.4(AIP):c.824dup:p.His275fs	coding	Pathogenic/Likely_pathogenic
11	67607054	CTG	C	T67607057C	NDUFV1	NM_007103.4(NDUFV1):c.51_52TG[1]:p.Val18fs	coding	Pathogenic
11	67612107	GC	G	C67612108T	NDUFV1	NM_007103.4(NDUFV1):c.1163-12del	noncoding	Benign/Likely_benign
11	67612158	A	AG	A67612165G	NDUFV1	NM_007103.4(NDUFV1):c.1207dup:p.Asp403fs	coding	Pathogenic
11	67612209	CAGAT	C	T67612213A	NDUFV1	NM_007103.4(NDUFV1):c.1256_1259del:p.Ile419fs	coding	Pathogenic
11	67991615	GG	CT	G67991615C	UNC93B1	NM_030930.4(UNC93B1):c.1724_1725delinsAG:p.Pro575Gln	coding	Benign
11	67995888	C	CG	A67995895G	UNC93B1	NM_030930.4(UNC93B1):c.1090-10dup	noncoding	Benign
11	67997690	G	GA	G67997693A	UNC93B1	NM_030930.4(UNC93B1):c.890dup:p.Leu298fs	coding	Benign
11	68039676	A	AC	T68039680C	TCIRG1	NM_006019.4(TCIRG1):c.-5+560dup	noncoding	Benign
11	68041371	CT	A	C68041371A	TCIRG1	NM_006019.4(TCIRG1):c.100_101delinsA:p.Leu34fs	coding	Pathogenic
11	68043418	GC	G	C68043420T	TCIRG1	NM_006019.4(TCIRG1):c.553del:p.Leu185fs	coding	Pathogenic
11	68043586	TGGATGACCTTCCTCATCTCCTACTGG	T	A68043589T	TCIRG1	NM_006019.3(TCIRG1):c.649_674del:p.Met217Terfs	coding	Pathogenic
11	68043642	G	GA	T68043644A	TCIRG1	NM_006019.4(TCIRG1):c.703dup:p.Ile235fs	coding	Pathogenic
11	68044186	CTGCT	G	C68044186G	TCIRG1	NM_006019.4(TCIRG1):c.862_866delinsG:p.Leu288fs	coding	Pathogenic
11	68044230	G	GT	A68044232T	TCIRG1	NM_006019.4(TCIRG1):c.907dup:p.Tyr303fs	coding	Pathogenic
11	68044244	AC	A	C68044246A	TCIRG1	NM_006019.4(TCIRG1):c.922del:p.Gln308fs	coding	Pathogenic
11	68044294	T	TG	C68044296G	TCIRG1	NM_006019.4(TCIRG1):c.971dup:p.Cys324fs	coding	Pathogenic
11	68045052	AG	A	G68045055C	TCIRG1	NM_006019.4(TCIRG1):c.1118del:p.Gly373fs	coding	Pathogenic/Likely_pathogenic
11	68047515	CG	C	G68047516C	TCIRG1	NM_006019.4(TCIRG1):c.1249del:p.Ala417fs	coding	Pathogenic
11	68049284	AC	A	C68049289G	TCIRG1	NM_006019.4(TCIRG1):c.1882del:p.Arg628fs	coding	Pathogenic
11	68049664	AG	A	G68049666T	TCIRG1	NM_006019.4(TCIRG1):c.1891del:p.Val631fs	coding	Pathogenic/Likely_pathogenic
11	68050524	A	AGGCCTG	G68050541T	TCIRG1	NM_006019.4(TCIRG1):c.2279_2284TGGGCC[3]:p.760_761LG[3]	coding	Benign/Likely_benign
11	68157814	GTCA	G	C68157822A	KMT5B	NM_017635.5(KMT5B):c.2523_2525TGA[2]:p.Asp844del	coding	Benign
11	68158787	TTC	T	C68158789G	KMT5B	NM_017635.5(KMT5B):c.1557_1558del:p.Asn520fs	coding	Pathogenic
11	68171581	GCA	G	C68171584G	KMT5B	NM_017635.5(KMT5B):c.780_781del:p.Ala261fs	coding	Pathogenic
11	68171637	TA	T	A68171638G	KMT5B	NM_017635.5(KMT5B):c.725del:p.Leu242fs	coding	Pathogenic
11	68171690	CTATTT	C	A68171692G	KMT5B	NM_017635.5(KMT5B):c.668_672del:p.Lys223fs	coding	Pathogenic
11	68185833	TG	T	G68185835T	KMT5B	NM_017635.5(KMT5B):c.255del:p.Ser86fs	coding	Pathogenic
11	68185869	CG	C	G68185871A	KMT5B	NM_017635.5(KMT5B):c.219del:p.Ala74fs	coding	Pathogenic
11	68312746	C	CGCT	G68312775C	LRP5	NM_002335.4(LRP5):c.34_36CTG[10]:p.Leu20dup	coding	Benign
11	68347939	CT	C	T68347940G	LRP5	NM_002335.4(LRP5):c.185del:p.Leu62fs	coding	Pathogenic
11	68347958	TGGACTTCCAG	T	G68347959T	LRP5	NM_002335.4(LRP5):c.204_213del:p.Asp69fs	coding	Pathogenic
11	68363861	TGGGGGGAAGA	T	G68363864A	LRP5	NM_002335.4(LRP5):c.804_813del:p.Gly269fs	coding	Pathogenic
11	68363899	C	CA	C68363901A	LRP5	NM_002335.4(LRP5):c.840dup:p.Pro281fs	coding	Pathogenic
11	68389934	TG	T	G68389936A	LRP5	NM_002335.4(LRP5):c.1468del:p.Asp490fs	coding	Pathogenic
11	68406579	A	AC	A68406584C	LRP5	NM_002335.4(LRP5):c.1861dup:p.His621fs	coding	Pathogenic
11	68409952	G	GCA	G68409956A	LRP5	NM_002335.4(LRP5):c.2132_2133dup:p.Val712fs	coding	Pathogenic
11	68409971	C	CT	G68409974T	LRP5	NM_002335.4(LRP5):c.2151dup:p.Asp718Ter	coding	Pathogenic
11	68410125	TG	T	G68410127A	LRP5	NM_002335.4(LRP5):c.2305del:p.Asp769fs	coding	Pathogenic
11	68413900	CTGTA	C	T68413903C	LRP5	NM_002335.4(LRP5):c.2718_2721del:p.Met907fs	coding	Pathogenic
11	68413921	G	GT	G68413923T	LRP5	NM_002335.4(LRP5):c.2737dup:p.Cys913fs	coding	Pathogenic
11	68433641	CA	C	A68433642G	LRP5	NM_002335.4(LRP5):c.3804del:p.Glu1270fs	coding	Pathogenic
11	68438451	A	AC	A68438454C	LRP5	NM_002335.4(LRP5):c.4119dup:p.Lys1374fs	coding	Pathogenic
11	68761528	GACTT	G	A68761533C	CPT1A	NM_001876.4(CPT1A):c.2028+3_2028+6del	noncoding	Pathogenic
11	68761942	G	GA	G68761949A	CPT1A	NM_001876.4(CPT1A):c.1876-261dup	noncoding	Benign
11	68773404	AG	A	G68773407A	CPT1A	NM_001876.4(CPT1A):c.1600del:p.Ser533_Leu534insTer	coding	Pathogenic
11	68793333	TC	T	C68793335G	CPT1A	NM_001031847.2(CPT1A):c.948delG:p.Ile317Serfs	coding	Pathogenic
11	68799366	TG	T	G68799371A	CPT1A	NM_001876.4(CPT1A):c.556-12del	noncoding	Benign
11	68804005	TCA	T	C68804008G	CPT1A	NM_001876.4(CPT1A):c.546_547TG[1]:p.Val183fs	coding	Pathogenic
11	68804014	CTT	C	T68804016G	CPT1A	NM_001876.4(CPT1A):c.539_540del:p.Lys180fs	coding	Pathogenic
11	68804089	TC	T	C68804090T	CPT1A	NM_001876.4(CPT1A):c.465del:p.Ile156fs	coding	Pathogenic
11	68815352	CT	C	T68815357C	CPT1A	NM_001876.4(CPT1A):c.122del:p.Lys41fs	coding	Pathogenic
11	68906114	CG	C	G68906115T	IGHMBP2	NM_002180.3(IGHMBP2):c.133del:p.Val45fs	coding	Pathogenic
11	68906222	TA	T	A68906224C	IGHMBP2	NM_002180.2(IGHMBP2):c.242del:p.Asn81fs	coding	Pathogenic
11	68908180	GGCAGTCAGCTG	ATGCT	G68908180A	IGHMBP2	NM_002180.2(IGHMBP2):c.292_303delinsATGCT:p.Gly98fs	coding	Pathogenic
11	68911563	TG	T	G68911565T	IGHMBP2	NM_002180.3(IGHMBP2):c.673del:p.Val225fs	coding	Pathogenic
11	68911565	GT	G	T68911567G	IGHMBP2	NM_002180.2(IGHMBP2):c.675del:p.Glu226fs	coding	Pathogenic
11	68917800	TAAGAA	T	A68917806C	IGHMBP2	NM_002180.3(IGHMBP2):c.978_982AAGAA[1]:p.Lys328fs	coding	Pathogenic/Likely_pathogenic
11	68929344	ACAGTCTCT	A	G68929347C	IGHMBP2	NM_002180.3(IGHMBP2):c.1225_1232del:p.Val409fs	coding	Pathogenic
11	68933375	C	CT	G68933377T	IGHMBP2	NM_002180.2(IGHMBP2):c.1313dup:p.Thr439fs	coding	Pathogenic/Likely_pathogenic
11	68933408	AT	A	T68933409G	IGHMBP2	NM_002180.2(IGHMBP2):c.1346del:p.Met449fs	coding	Pathogenic
11	68935344	G	GA	T68935348A	IGHMBP2	NM_002180.2(IGHMBP2):c.1681dup:p.Ile561fs	coding	Pathogenic
11	68935366	TC	T	C68935368A	IGHMBP2	NM_002180.3(IGHMBP2):c.1702del:p.Gln568fs	coding	Pathogenic
11	68936677	ATAGTGG	CA	A68936677C	IGHMBP2	NM_002180.2(IGHMBP2):c.2197_2203delinsCA:p.Ile733fs	coding	Pathogenic
11	68936833	AG	A	G68936836C	IGHMBP2	NM_002180.3(IGHMBP2):c.2356del:p.Ala786fs	coding	Pathogenic
11	68936904	GC	G	C68936909T	IGHMBP2	NM_002180.3(IGHMBP2):c.2429del:p.Pro810fs	coding	Pathogenic
11	68937019	CA	C	A68937020G	IGHMBP2	NM_002180.3(IGHMBP2):c.2540del:p.Gln847fs	coding	Pathogenic
11	68937074	AAAAG	A	G68937078A	IGHMBP2	NM_002180.2(IGHMBP2):c.2598_2601del:p.Lys868fs	coding	Pathogenic
11	68937076	AAG	A	G68937078A	IGHMBP2	NM_002180.2(IGHMBP2):c.2598_2599del:p.Lys868fs	coding	Pathogenic
11	68939657	CAG	C	A68939660G	IGHMBP2	NM_002180.3(IGHMBP2):c.2909_2910AG[1]:p.Arg971fs	coding	Pathogenic/Likely_pathogenic
11	69296256	TG	T	G69296263T	MYEOV	NM_001293291.2(MYEOV):c.813del:p.Trp272fs	coding	Benign
11	69810408	AC	A	C69810413T	FGF3	NM_005247.4(FGF3):c.616del:p.Val206fs	coding	Pathogenic
11	69810566	CCA	C	C69810569G	FGF3	NM_005247.4(FGF3):c.455_456TG[1]:p.Trp153fs	coding	Pathogenic
11	69810630	CG	C	G69810633A	FGF3	NM_005247.4(FGF3):c.394del:p.Arg132fs	coding	Pathogenic
11	69816373	G	GA	C69816375A	FGF3	NM_005247.4(FGF3):c.270dup:p.Leu91fs	coding	Pathogenic
11	69816388	CA	C	A69816390T	FGF3	NM_005247.4(FGF3):c.255del:p.Ile85fs	coding	Pathogenic
11	70485987	CTG	C	T70485988A	SHANK2	NM_133266.5(SHANK2):c.2540_2541del:p.Leu846_Ser847insTer	coding	Pathogenic
11	70486126	G	GAATGGC	A70486135T	SHANK2	NM_133266.5(SHANK2):c.2397_2402dup:p.Leu799_Pro800dup	coding	Benign
11	70492430	AG	A	G70492433C	SHANK2	NM_012309.5(SHANK2):c.2343del:p.Ser782fs	coding	Pathogenic
11	70661635	C	CT	C70661642T	SHANK2	NM_012309.4(SHANK2):c.1896dup:p.Asp633fs	coding	Pathogenic
11	71435453	GC	CA	G71435453C	DHCR7	NM_001360.2(DHCR7):c.1349_1350delinsTG:p.Arg450Leu	coding	Pathogenic
11	71435725	G	GGT	C71435728G	DHCR7	NM_001360.3(DHCR7):c.1076_1077dup:p.Leu360fs	coding	Pathogenic
11	71435736	TG	T	G71435738T	DHCR7	NM_001360.2(DHCR7):c.1066del:p.His356fs	coding	Pathogenic/Likely_pathogenic
11	71441224	T	TA	C71441226A	DHCR7	NM_001360.3(DHCR7):c.626+2dup	noncoding	Pathogenic
11	71442257	GGCTACCTGCAGGAGTCACGGCCCCCTCCTGGAT	G	T71442260C	DHCR7	NM_001360.2(DHCR7):c.385_412+5del	noncoding	Pathogenic/Likely_pathogenic
11	71442319	TG	T	G71442321C	DHCR7	NM_001360.3(DHCR7):c.355del:p.His119fs	coding	Pathogenic
11	71444863	GC	G	C71444867A	DHCR7	NM_001360.3(DHCR7):c.89del:p.Gly30fs	coding	Pathogenic
11	71497535	AG	A	G71497537T	NADSYN1	NM_018161.5(NADSYN1):c.1819del:p.Val607fs	coding	Pathogenic
11	72108662	C	CAGCT	G72108667A	LRTOMT	NM_001145308.4(LRTOMT):c.614_617dup:p.Ser207fs	coding	Pathogenic
11	72139110	CTA	C	A72139112G	FOLR3	NM_000804.4(FOLR3):c.320_321del:p.Leu106_Tyr107insTer	coding	Benign
11	72192205	TC	T	C72192207T	FOLR1	NM_016729.3(FOLR1):c.34del:p.Leu12fs	coding	Pathogenic
11	72225070	CGGCCGCGGAGGAGCTGCTGGCCCGGGCG	C	G72225078A	INPPL1	NM_001567.4(INPPL1):c.94_121del:p.Glu32fs	coding	Pathogenic
11	72228376	TCCAGA	T	A72228379C	INPPL1	NM_001567.4(INPPL1):c.278_282del:p.Gln93fs	coding	Pathogenic
11	72229676	CA	C	A72229677G	INPPL1	NM_001567.4(INPPL1):c.768del:p.Glu258fs	coding	Pathogenic
11	72229676	CAG	C	A72229677G	INPPL1	NM_001567.4(INPPL1):c.768_769del:p.Glu258fs	coding	Pathogenic
11	72232757	A	AT	A72232759T	INPPL1	NM_001567.4(INPPL1):c.1845dup:p.Ile616fs	coding	Pathogenic
11	72240115	GGCGCCCGCC	G	G72240131T	PHOX2A	NM_005169.4(PHOX2A):c.471_479GGCGGGCGC[1]:p.158_160AGA[1]	coding	Benign
11	72293553	G	GC	T72293559C	CLPB	NM_001258392.3(CLPB):c.1847dup:p.Cys617fs	coding	Pathogenic
11	72294409	GA	G	A72294410T	CLPB	NM_001258392.3(CLPB):c.1595del:p.Ile532fs	coding	Pathogenic
11	72301915	CCC	GGG	C72301915G	CLPB	NM_001258392.3(CLPB):c.1215_1217inv:p.Glu405_Gly406delinsAspPro	coding	Pathogenic
11	72380092	CA	C	A72380093T	CLPB	NM_001258392.3(CLPB):c.646+188del	noncoding	Benign
11	72430316	TGA	ATATT	T72430316A	CLPB	NM_001258392.3(CLPB):c.449_451delinsAATAT:p.Val150fs	coding	Pathogenic
11	73395208	CCT	C	C73395209G	RELT	NM_152222.2(RELT):c.1169_1170del:p.Pro390fs	coding	Pathogenic
11	74042223	CAAAAA	C	A74042238G	C2CD3	NM_015531.6(C2CD3):c.5496-10_5496-6del	noncoding	Benign
11	74113900	G	GA	G74113910A	C2CD3	NM_015531.6(C2CD3):c.1731-17dup	noncoding	Benign
11	74138967	CCT	C	C74138968G	C2CD3	NM_015531.6(C2CD3):c.708-2_708-1del	coding	Pathogenic
11	75572058	G	GT	G75572060T	SERPINH1	NM_001235.4(SERPINH1):c.1233dup:p.Asp412Ter	coding	Pathogenic
11	75572751	AT	A	T75572761C	SERPINH1	NM_001235.4(SERPINH1):c.*678del	noncoding	Benign
11	77142788	CTG	C	T77142789G	MYO7A	NM_000260.4(MYO7A):c.99_100del:p.Gly34fs	coding	Pathogenic
11	77147799	A	AAC	T77147804A	MYO7A	NM_000260.4(MYO7A):c.135_136AC[3]:p.Trp47fs	coding	Pathogenic/Likely_pathogenic
11	77147844	AC	A	C77147848A	MYO7A	NM_000260.4(MYO7A):c.183del:p.Thr62fs	coding	Pathogenic
11	77147883	TG	T	G77147888A	MYO7A	NM_000260.4(MYO7A):c.223del:p.Asp75fs	coding	Pathogenic
11	77155942	C	CA	T77155943A	MYO7A	NM_000260.4(MYO7A):c.321_322insA:p.Tyr108fs	coding	Pathogenic
11	77155955	T	TCCATCTACTCG	G77155970T	MYO7A	NM_000260.4(MYO7A):c.338_348dup:p.Glu117fs	coding	Pathogenic
11	77156011	GC	G	C77156018A	MYO7A	NM_000260.4(MYO7A):c.397del:p.His133fs	coding	Pathogenic
11	77156011	G	GC	A77156019C	MYO7A	NM_000260.4(MYO7A):c.397dup:p.His133fs	coding	Pathogenic/Likely_pathogenic
11	77156683	CG	C	G77156685A	MYO7A	NM_000260.4(MYO7A):c.496del:p.Glu166fs	coding	Pathogenic
11	77156753	GGT	G	G77156754C	MYO7A	NM_000260.4(MYO7A):c.565_566del:p.Val189fs	coding	Pathogenic
11	77156766	AC	A	C77156771A	MYO7A	NM_000260.4(MYO7A):c.582del:p.Ile195fs	coding	Pathogenic
11	77156915	TACATCG	T	G77156921C	MYO7A	NM_000260.4(MYO7A):c.652_657del:p.Asp218_Ile219del	coding	Pathogenic
11	77156921	GACATCC	G	A77156924T	MYO7A	NM_000260.4(MYO7A):c.655_660del:p.Ile219_His220del	coding	Pathogenic
11	77157263	G	GTGCCCACATTTT	C77157276T	MYO7A	NM_000260.4(MYO7A):c.736-15_736-4dup	noncoding	Benign
11	77158397	GCCAT	G	A77158400T	MYO7A	NM_000260.4(MYO7A):c.973_976del:p.Ile325fs	coding	Pathogenic
11	77159516	TG	T	G77159517C	MYO7A	NM_000260.4(MYO7A):c.1074del:p.Glu360fs	coding	Pathogenic
11	77160214	C	CGCGGGGAGACGGT	T77160229C	MYO7A	NM_000260.4(MYO7A):c.1134_1146dup:p.Ser383fs	coding	Pathogenic
11	77160278	T	TAA	G77160282A	MYO7A	NM_000260.4(MYO7A):c.1198_1199dup:p.Gly401fs	coding	Pathogenic
11	77162125	AGCAGCTCT	A	G77162129T	MYO7A	NM_000260.4(MYO7A):c.1353_1360del:p.Gln451fs	coding	Pathogenic
11	77162851	AG	A	G77162854C	MYO7A	NM_000260.3(MYO7A):c.1556delG:p.Gly519Alafs	noncoding	Pathogenic
11	77162860	AC	A	C77162861A	MYO7A	NM_000260.4(MYO7A):c.1563del:p.Asp521fs	coding	Pathogenic/Likely_pathogenic
11	77162914	TC	T	C77162921A	MYO7A	NM_000260.4(MYO7A):c.1623del:p.Lys542fs	coding	Pathogenic
11	77162914	T	TC	A77162922C	MYO7A	NM_000260.4(MYO7A):c.1623dup:p.Lys542fs	coding	Pathogenic
11	77165930	G	GT	C77165931T	MYO7A	NM_000260.4(MYO7A):c.1691-126_1691-125insT	noncoding	Benign
11	77172794	AG	A	G77172795C	MYO7A	NM_000260.4(MYO7A):c.1845del:p.Lys615fs	coding	Pathogenic
11	77174758	GT	G	T77174760C	MYO7A	NM_000260.4(MYO7A):c.1940del:p.Phe647fs	coding	Pathogenic
11	77174835	AC	A	C77174839A	MYO7A	NM_000260.4(MYO7A):c.2019del:p.Ile674fs	coding	Pathogenic
11	77175447	AC	A	C77175449A	MYO7A	NM_000260.4(MYO7A):c.2172del:p.Lys725fs	coding	Pathogenic
11	77179068	AC	A	C77179069G	MYO7A	NM_000260.4(MYO7A):c.2307del:p.Asn769fs	coding	Pathogenic
11	77179097	CG	C	G77179101T	MYO7A	NM_000260.4(MYO7A):c.2339del:p.Gly780fs	coding	Pathogenic
11	77181434	GA	G	A77181435G	MYO7A	NM_000260.4(MYO7A):c.2750del:p.Glu917fs	coding	Pathogenic
11	77181522	TG	T	G77181523T	MYO7A	NM_000260.4(MYO7A):c.2838del:p.Met946fs	coding	Pathogenic
11	77182456	CT	C	T77182458C	MYO7A	NM_000260.4(MYO7A):c.3143del:p.Phe1048fs	coding	Pathogenic
11	77183108	AC	A	C77183109A	MYO7A	NM_000260.4(MYO7A):c.3327del:p.His1109fs	coding	Pathogenic
11	77184725	GGGAGGCGGGGACACCAGGGCCT	G	G77184727A	MYO7A	NM_000260.3(MYO7A):c.3503+12_3503+33delGAGGCGGGGACACCAGGGCCTG	coding	Benign
11	77189380	C	CCA	A77189385C	MYO7A	NM_000260.4(MYO7A):c.3541_3542CA[3]:p.Asn1182fs	coding	Pathogenic/Likely_pathogenic
11	77189404	TGCCCGGG	A	T77189404A	MYO7A	NM_000260.4(MYO7A):c.3564_3571delinsA:p.Tyr1188_Gly1191delinsTer	coding	Pathogenic
11	77189425	GTC	G	C77189431G	MYO7A	NM_000260.4(MYO7A):c.3587_3588CT[2]:p.Cys1198fs	coding	Pathogenic
11	77190083	AGAAGGACCTTT	A	A77190085T	MYO7A	NM_000260.4(MYO7A):c.3696_3706del:p.Arg1232fs	coding	Pathogenic
11	77190115	G	GC	G77190118C	MYO7A	NM_000260.4(MYO7A):c.3728dup:p.Pro1244fs	coding	Pathogenic
11	77190117	C	CG	C77190119G	MYO7A	NM_000260.4(MYO7A):c.3729dup:p.Pro1244fs	coding	Pathogenic
11	77190578	T	TGCTGGGGCCTGGAGC	A77190579G	MYO7A	NM_000260.4(MYO7A):c.3751-119_3751-118insGCTGGGGCCTGGAGC	noncoding	Benign
11	77190708	CA	C	A77190710G	MYO7A	NM_000260.4(MYO7A):c.3764del:p.Lys1255fs	coding	Pathogenic/Likely_pathogenic
11	77190817	ATC	A	T77190824A	MYO7A	NM_000260.4(MYO7A):c.3872_3873TC[3]:p.Leu1293fs	coding	Pathogenic
11	77192069	G	GGC	A77192072G	MYO7A	NM_000260.4(MYO7A):c.3944_3945dup:p.Ser1316fs	coding	Pathogenic
11	77192082	T	TC	A77192084C	MYO7A	NM_000260.4(MYO7A):c.3957dup:p.Met1320fs	coding	Pathogenic
11	77192232	AGCAG	A	C77192234T	MYO7A	NM_000260.4(MYO7A):c.4108_4111del:p.Gln1370fs	coding	Pathogenic/Likely_pathogenic
11	77194424	GC	G	C77194426T	MYO7A	NM_000260.4(MYO7A):c.4225del:p.Leu1409fs	coding	Pathogenic
11	77194451	TC	T	C77194455G	MYO7A	NM_000260.4(MYO7A):c.4254del:p.Asp1419fs	coding	Pathogenic/Likely_pathogenic
11	77194495	GC	G	C77194498A	MYO7A	NM_000260.4(MYO7A):c.4297del:p.Gln1433fs	coding	Pathogenic
11	77198552	TTG	T	T77198555G	MYO7A	NM_000260.4(MYO7A):c.4500_4501TG[1]:p.Val1501fs	coding	Pathogenic/Likely_pathogenic
11	77198597	AGATCATG	CA	A77198597C	MYO7A	NM_000260.4(MYO7A):c.4544_4551delinsCA:p.Glu1515_Met1517delinsAla	coding	Pathogenic/Likely_pathogenic
11	77198607	CG	C	G77198608T	MYO7A	NM_000260.4(MYO7A):c.4555del:p.Val1519fs	coding	Pathogenic
11	77199578	TG	T	G77199579T	MYO7A	NM_000260.4(MYO7A):c.4613del:p.Cys1538fs	coding	Pathogenic
11	77199607	AC	A	C77199608T	MYO7A	NM_000260.4(MYO7A):c.4642del:p.Gly1547_Leu1548insTer	coding	Pathogenic/Likely_pathogenic
11	77199803	GA	G	A77199804T	MYO7A	NM_000260.4(MYO7A):c.4838del:p.Asp1613fs	coding	Pathogenic
11	77201590	CAG	C	A77201591T	MYO7A	NM_000260.4(MYO7A):c.4996_4997del:p.Ser1666fs	coding	Pathogenic
11	77202325	A	AC	G77202326C	MYO7A	NM_000260.4(MYO7A):c.5069_5070insC:p.Gln1690fs	coding	Pathogenic
11	77202397	TGGA	T	G77202402T	MYO7A	NM_000260.4(MYO7A):c.5143_5145GAG[1]:p.Glu1716del	coding	Pathogenic
11	77202410	CTA	C	A77202412G	MYO7A	NM_000260.4(MYO7A):c.5156_5157del:p.Ser1718_Tyr1719insTer	coding	Pathogenic
11	77204167	C	CGA	C77204171A	MYO7A	NM_000260.4(MYO7A):c.5420_5421dup:p.Pro1808fs	coding	Pathogenic
11	77205559	T	TC	G77205563C	MYO7A	NM_000260.4(MYO7A):c.5581dup:p.Arg1861fs	coding	Pathogenic
11	77205610	GC	G	C77205613T	MYO7A	NM_000260.4(MYO7A):c.5632del:p.Ala1877_Leu1878insTer	coding	Pathogenic
11	77207365	CAG	C	A77207368G	MYO7A	NM_000260.4(MYO7A):c.5820_5821AG[1]:p.Glu1941fs	coding	Pathogenic
11	77207381	CTT	C	T77207383G	MYO7A	NM_000260.4(MYO7A):c.5837_5838del:p.Phe1946fs	coding	Pathogenic
11	77207388	AAAATTGCAGAC	A	A77207391G	MYO7A	NM_000260.4(MYO7A):c.5845_5855del:p.Ile1949fs	coding	Pathogenic
11	77208452	ACTT	A	C77208459T	MYO7A	NM_000260.4(MYO7A):c.5880_5882CTT[2]:p.Phe1963del	coding	Pathogenic/Likely_pathogenic
11	77208456	CTTCT	C	C77208459G	MYO7A	NM_000260.4(MYO7A):c.5886_5889del:p.Phe1962fs	coding	Pathogenic
11	77208459	CTTT	C	T77208460G	MYO7A	NM_000260.4(MYO7A):c.5887_5889del:p.Phe1963del	coding	Pathogenic
11	77208775	TG	T	G77208777C	MYO7A	NM_000260.4(MYO7A):c.6025del:p.Ala2009fs	coding	Pathogenic
11	77208795	T	TATTA	C77208800A	MYO7A	NM_000260.4(MYO7A):c.6044_6047dup:p.Tyr2016Ter	coding	Pathogenic
11	77211292	GC	G	C77211296A	MYO7A	NM_000260.4(MYO7A):c.6196del:p.Gln2066fs	coding	Pathogenic
11	77211329	T	TG	A77211332G	MYO7A	NM_000260.4(MYO7A):c.6231dup:p.Lys2078fs	coding	Pathogenic
11	77214658	G	GCCATGAGCAAACAGCGGGGCT	G77214683T	MYO7A	NM_000260.4(MYO7A):c.6614_6634dup:p.Met2205_Ser2211dup	coding	Benign/Likely_benign
11	78069979	TGAAGACTTCAACGTATTGGATG	T	G78069983T	NDUFC2	NM_004549.6(NDUFC2):c.346_*7del:p.His116fs	coding	Pathogenic
11	78109498	C	CT	G78109500T	ALG8	NM_024079.5(ALG8):c.981dup:p.Val328fs	coding	Pathogenic
11	78113901	A	AC	A78113905C	ALG8	NM_024079.5(ALG8):c.761dup:p.Pro255fs	coding	Pathogenic
11	78121129	TG	T	G78121130T	ALG8	NM_024079.5(ALG8):c.413del:p.Thr138fs	coding	Pathogenic
11	78121146	C	CT	C78121154T	ALG8	NM_024079.5(ALG8):c.396dup:p.Val133fs	coding	Pathogenic
11	78574478	AC	A	C78574483A	NARS2	NM_024678.6(NARS2):c.10del:p.Val4fs	coding	Pathogenic
11	85635668	TA	T	A85635670T	TMEM126B	NM_018480.5(TMEM126B):c.401del:p.Asn134fs	coding	Pathogenic
11	85648050	A	AGACC	G85648052A	TMEM126A	NM_032273.4(TMEM126A):c.-46_-45insACCG	noncoding	Benign
11	86277996	GTATT	G	T86277999G	EED	NM_003797.5(EED):c.1199+8_1199+11del	noncoding	Benign
11	86951247	CGT	C	T86951251A	FZD4	NM_012193.4(FZD4):c.1505_1506AC[1]:p.Thr503fs	coding	Pathogenic
11	86951253	AAG	A	A86951256T	FZD4	NM_012193.4(FZD4):c.1499_1500CT[1]:p.Leu501fs	coding	Pathogenic
11	86951271	AATCCAC	A	C86951274G	FZD4	NM_012193.4(FZD4):c.1479_1484del:p.Met493_Trp494del	coding	Pathogenic
11	86951470	TTGTC	T	G86951476T	FZD4	NM_012193.4(FZD4):c.1278_1281GACA[1]:p.Asp428fs	coding	Pathogenic
11	86952094	A	AT	A86952096T	FZD4	NM_012193.4(FZD4):c.661dup:p.Ile221fs	coding	Pathogenic
11	86952175	A	ACCCAGATGTACTGATCAGAATTGGTTCCCACAGAGTGACACTCTTCC	A86952225C	FZD4	NM_012193.4(FZD4):c.534_580dup:p.Val194fs	coding	Pathogenic
11	86952467	AG	A	G86952468A	FZD4	NM_012193.4(FZD4):c.288del:p.Phe97fs	coding	Pathogenic
11	86954635	TTTGGCTTCCAGTCCCTGAGAAAGTGGGGGTGGGGATGGAAATCACTTTTCCAGGAGAGCTGTCTCCTTCGGGCTAGGATGATCAACTTGGCATGGGCTCTGCAAAGTTAGTTTGGAGCGTCCCTCCCCAAGGGGTCCCGCCAGGGGTGGGGGTGGGGGCGCCCACCTGCAGCTGGCTGGAGCAGCCGTACTGGATGAGCGGTGTGAAAGTTGTCAGCTGCAGCTCGGCGTCCGTCTGCAGCTCGTGCCCAACCAGGTTGGGCATCTTGGTCACGTTGTAGCCGAGGTTCTGGCACATGGAGATGCGGATGGGGTCGCAGCGCCGCTC	T	G86954638C	FZD4	NM_012193.4(FZD4):c.124_285+165del	noncoding	Pathogenic
11	88294256	AG	A	G88294258A	CTSC	NM_001814.6(CTSC):c.1141del:p.Leu381fs	coding	Pathogenic
11	88294301	TG	T	G88294303A	CTSC	NM_001814.6(CTSC):c.1096del:p.His366fs	coding	Pathogenic
11	88294341	CA	C	A88294342T	CTSC	NM_001814.6(CTSC):c.1056del:p.Phe351_Tyr352insTer	coding	Pathogenic
11	88294350	CT	C	T88294351C	CTSC	NM_001814.6(CTSC):c.1047del:p.Gly350fs	coding	Pathogenic
11	88296159	ACC	TTGGGCTAAGCCCAA	A88296159T	CTSC	NM_001814.6(CTSC):c.861_863delinsTTGGGCTTAGCCCAA:p.Glu287_Val288delinsAspTrpAlaTer	coding	Pathogenic
11	88335088	GA	G	A88335101G	CTSC	NM_001814.6(CTSC):c.173-7del	noncoding	Benign
11	88604708	AAC	A	C88604712A	GRM5	NM_001143831.2(GRM5):c.1394+8_1394+9del	noncoding	Benign
11	89178026	G	GT	C89178028T	TYR	NM_000372.5(TYR):c.74dup:p.Ser26fs	coding	Pathogenic
11	89178238	C	CA	T89178240A	TYR	NM_000372.4(TYR):c.286dupA:p.Met96fs	coding	Pathogenic
11	89178288	GCA	G	C89178291G	TYR	NM_000372.5(TYR):c.336_337CA[1]:p.Thr113fs	coding	Pathogenic
11	89178340	AGA	GG	A89178340G	TYR	NM_000372.5(TYR):c.387_389delinsGG:p.Glu130fs	coding	Pathogenic
11	89178341	GAGA	G	A89178344G	TYR	NM_000372.5(TYR):c.391_393del:p.Lys131del	coding	Pathogenic
11	89178520	TG	T	G89178525A	TYR	NM_000372.5(TYR):c.572del:p.Gly191fs	coding	Pathogenic
11	89178681	AGT	A	T89178685A	TYR	NM_000372.4(TYR):c.732_733delTG:p.Cys244Terfs	coding	Pathogenic
11	89191307	A	AC	A89191312C	TYR	NM_000372.5(TYR):c.929dup:p.Arg311fs	coding	Pathogenic
11	89227948	CT	C	T89227950C	TYR	NM_000372.5(TYR):c.1164del:p.His389fs	coding	Pathogenic
11	89284852	CG	C	G89284855A	TYR	NM_000372.5(TYR):c.1267del:p.Glu423fs	coding	Pathogenic
11	89295228	AG	A	G89295232C	TYR	NM_000372.5(TYR):c.1456del:p.Ala486fs	coding	Pathogenic
11	89295242	C	CT	G89295244T	TYR	NM_000372.5(TYR):c.1467dup:p.Ala490fs	coding	Pathogenic
11	89295276	T	TC	G89295278C	TYR	NM_000372.5(TYR):c.1501dup:p.Arg501fs	coding	Pathogenic
11	93788155	TC	T	C93788157T	MED17	NM_004268.5(MED17):c.407del:p.Pro136fs	coding	Pathogenic
11	93797687	TAAAC	T	A93797690G	MED17	NM_004268.5(MED17):c.1299_1302del:p.Ala435fs	coding	Pathogenic
11	93801944	A	AC	A93801946C	MED17	NM_004268.5(MED17):c.1439dup:p.Ser481fs	coding	Pathogenic
11	93807587	TAC	T	A93807590T	MED17	NM_004268.5(MED17):c.1539_1540del:p.Leu514fs	coding	Pathogenic
11	94129365	AGGAGCCCAC	A	C94129374A	PANX1	NM_015368.4(PANX1):c.62_70del:p.Thr21_Pro23del	coding	Pathogenic
11	94437205	CG	C	G94437208A	MRE11	NM_005590.4(MRE11):c.1813del:p.Arg605fs	coding	Pathogenic
11	94437233	AG	A	G94437235C	MRE11	NM_005590.4(MRE11):c.1785del:p.Phe596fs	coding	Pathogenic
11	94445850	C	CT	G94445854T	MRE11	NM_005590.4(MRE11):c.1783+1366dup	coding	Pathogenic
11	94445867	GGGTA	G	G94445869A	MRE11	NM_005591.4(MRE11):c.1806_1809del:p.Thr603fs	coding	Pathogenic
11	94447227	CTT	C	T94447229G	MRE11	NM_005590.4(MRE11):c.1773_1774del:p.Gly593fs	coding	Pathogenic
11	94447281	CT	C	T94447283C	MRE11	NM_005590.4(MRE11):c.1720del:p.Arg574fs	coding	Pathogenic
11	94447361	ACTCATAAG	A	C94447362G	MRE11	NM_005590.4(MRE11):c.1633_1640del:p.Leu545fs	coding	Pathogenic
11	94456306	ATT	A	T94456312G	MRE11	NM_005591.4(MRE11):c.1531_1532del:p.Asn511fs	coding	Pathogenic
11	94459422	TG	T	G94459423T	MRE11	NM_005591.4(MRE11):c.1485del:p.Asp495fs	coding	Pathogenic
11	94459462	CTG	C	G94459466T	MRE11	NM_005591.4(MRE11):c.1442_1443CA[1]:p.Gln482fs	coding	Pathogenic
11	94459462	CT	TTAA	C94459462T	MRE11	NM_005590.4(MRE11):c.1445_1446delinsTTAA:p.Gln482fs	coding	Pathogenic
11	94459466	GT	G	T94459472C	MRE11	NM_005590.4(MRE11):c.1441del:p.Thr481fs	coding	Pathogenic
11	94459571	AG	A	G94459572C	MRE11	NM_005590.4(MRE11):c.1336del:p.Leu446fs	coding	Pathogenic
11	94460934	AC	A	C94460936T	MRE11	NM_005591.4(MRE11):c.1326+1del	noncoding	Pathogenic
11	94461009	A	AT	A94461011T	MRE11	NM_005590.4(MRE11):c.1252dup:p.Ile418fs	coding	Pathogenic
11	94464115	G	GT	C94464122T	MRE11	NM_005590.4(MRE11):c.1222dup:p.Thr408fs	coding	Pathogenic/Likely_pathogenic
11	94464194	TA	T	A94464197G	MRE11	NM_005591.3(MRE11):c.1143del:p.Phe381fs	coding	Pathogenic
11	94464202	A	AG	A94464204G	MRE11	NM_005590.4(MRE11):c.1135dup:p.Leu379fs	coding	Pathogenic
11	94464210	GAAAGGTTCAAAACCTC	G	A94464211C	MRE11	NM_005591.4(MRE11):c.1112_1127del:p.Gly371fs	coding	Pathogenic
11	94464225	T	TC	A94464228C	MRE11	NM_005591.4(MRE11):c.1112dup:p.Gly372fs	coding	Pathogenic/Likely_pathogenic
11	94467862	TCC	T	C94467864G	MRE11	NM_005590.4(MRE11):c.1047_1048del:p.Glu350fs	coding	Pathogenic
11	94470564	G	GA	C94470570A	MRE11	NM_005590.4(MRE11):c.923dup:p.Met309fs	coding	Pathogenic
11	94470592	AT	A	T94470596A	MRE11	NM_005591.4(MRE11):c.895del:p.Ile299fs	coding	Pathogenic
11	94471596	AAA	T	A94471596T	MRE11	NM_005590.4(MRE11):c.821_823delinsA:p.Leu274fs	coding	Pathogenic
11	94471597	AAG	A	G94471601A	MRE11	NM_005591.4(MRE11):c.818_819CT[1]:p.Leu274fs	coding	Pathogenic/Likely_pathogenic
11	94471679	T	TG	T94471681G	MRE11	NM_005590.4(MRE11):c.739dup:p.His247fs	coding	Pathogenic
11	94476319	CAA	C	A94476320G	MRE11	NM_005590.4(MRE11):c.627_628del:p.Trp210fs	coding	Pathogenic
11	94476395	GA	G	A94476397T	MRE11	NM_005591.4(MRE11):c.552del:p.Pro185fs	coding	Pathogenic
11	94478767	TTTTGAAGC	T	T94478768A	MRE11	NM_005591.3(MRE11):c.504_511del:p.Leu169fs	coding	Pathogenic
11	94479764	TA	T	A94479775G	MRE11	NM_005591.3(MRE11):c.315-4del	noncoding	Benign/Likely_benign
11	94479764	T	TAA	G94479776A	MRE11	NM_005590.4(MRE11):c.315-14_315-13dup	noncoding	Benign
11	94479764	T	TA	G94479776A	MRE11	NM_005591.4(MRE11):c.315-14dup	noncoding	Benign/Likely_benign
11	94485939	TTGAC	T	C94485947T	MRE11	NM_005590.4(MRE11):c.291_294GTCA[1]:p.Val99fs	coding	Pathogenic
11	94486018	T	TATGTA	T94486028A	MRE11	NM_005591.4(MRE11):c.215_219dup:p.Thr74fs	coding	Pathogenic
11	94486026	GT	G	T94486030C	MRE11	NM_005590.4(MRE11):c.211del:p.Thr71fs	coding	Pathogenic
11	95817798	AAG	A	G95817802A	CEP57	NM_014679.5(CEP57):c.518_519GA[1]:p.Glu174fs	coding	Pathogenic
11	95821894	TA	T	A95821895G	CEP57	NM_014679.5(CEP57):c.724del:p.Arg242fs	coding	Pathogenic
11	95827811	T	TAGCCAATGTTC	T95827826C	CEP57	NM_014679.5(CEP57):c.915_925dup:p.Leu309fs	coding	Pathogenic
11	95829337	TCA	T	C95829338G	CEP57	NM_014679.5(CEP57):c.1272+7_1272+8del	noncoding	Benign
11	95834061	AAAG	A	G95834064A	MTMR2	NM_016156.5(MTMR2):c.*1226_*1228del	noncoding	Benign
11	95836135	GTAAGGC	G	T95836136A	MTMR2	NM_016156.5(MTMR2):c.1770+7_1770+12del	noncoding	Benign
11	95838148	G	GTA	G95838153T	MTMR2	NM_201278.3(MTMR2):c.1319_1320TA[3]:p.Ser442fs	coding	Pathogenic
11	95838196	T	TG	C95838198G	MTMR2	NM_016156.6(MTMR2):c.1490dup:p.Phe498fs	coding	Pathogenic
11	95841638	ACAGT	A	G95841641A	MTMR2	NM_016156.5(MTMR2):c.1454_1457del:p.Asp485fs	coding	Pathogenic
11	95844975	CTT	C	T95844976A	MTMR2	NM_016156.6(MTMR2):c.1362_1363del:p.Ser455fs	coding	Pathogenic
11	95845098	ACC	A	C95845099A	MTMR2	NM_016156.6(MTMR2):c.1239_1240del:p.Val414fs	coding	Pathogenic
11	95847858	AT	A	T95847862G	MTMR2	NM_016156.5(MTMR2):c.1034del:p.Asn345fs	coding	Pathogenic
11	95849792	CT	C	T95849793C	MTMR2	NM_016156.6(MTMR2):c.874del:p.Ser292fs	coding	Pathogenic
11	95861994	TAC	T	C95862000G	MTMR2	NM_201278.3(MTMR2):c.244_245GT[2]:p.Val82_Cys83insTer	coding	Pathogenic
11	95862001	AGTTTC	A	G95862002T	MTMR2	NM_016156.5(MTMR2):c.454_458del:p.Glu152fs	coding	Pathogenic
11	95865910	C	CA	T95865917A	MTMR2	NM_016156.5(MTMR2):c.187-240dup	noncoding	Benign
11	96384564	CA	C	A96384568C	CCDC82	NM_024725.4(CCDC82):c.183del:p.Phe61fs	coding	Pathogenic
11	101452244	C	CTAAA	G101452247A	TRPC6	NM_004621.6(TRPC6):c.*710_*711insTTTA	noncoding	Benign
11	101453125	TAAG	T	A101453129T	TRPC6	NM_004621.6(TRPC6):c.2645-22_2645-20del	noncoding	Benign
11	101488918	CCAGGCTTCACATA	C	G101488921T	TRPC6	NM_004621.6(TRPC6):c.1293+6_1293+18del	noncoding	Benign
11	101891348	G	GT	G101891354T	ANGPTL5	NM_178127.5(ANGPTL5):c.1097dup:p.Asn366fs	coding	Benign
11	102058881	CT	C	T102058887C	CFAP300	NM_032930.3(CFAP300):c.200del:p.Phe67fs	coding	Pathogenic
11	102058885	TTT	CC	T102058885C	CFAP300	NM_032930.3(CFAP300):c.198_200delinsCC:p.Phe67fs	coding	Pathogenic
11	102594771	CAA	C	A102594790T	MMP20	NM_004771.4(MMP20):c.954-16_954-15del	noncoding	Benign
11	102792745	A	AG	A102792747G	MMP1	NM_002421.4(MMP1):c.900-8dup	noncoding	Benign
11	102797872	CA	C	A102797886T	MMP1	NM_002421.4(MMP1):c.105+115del	noncoding	Benign
11	102943268	T	TA	T102943278A	MMP13	NM_002427.4(MMP13):c.*997dup	noncoding	Benign
11	102952038	T	TC	G102952040C	MMP13	NM_002427.4(MMP13):c.772dup:p.Asp258fs	coding	Pathogenic
11	103116573	T	TTTTATAACTTGGACAGTCTATCCTTACTA	G103116603T	DYNC2H1	NM_001080463.1(DYNC2H1):c.626_654dup:p.Glu219Phefs	coding	Pathogenic
11	103120692	TTGTGGAAAGC	T	T103120695C	DYNC2H1	NM_001377.3(DYNC2H1):c.1141_1150del:p.Trp381fs	coding	Pathogenic
11	103121028	CAATT	C	T103121031A	DYNC2H1	NM_001377.3(DYNC2H1):c.1355_1358del:p.Ile452fs	coding	Pathogenic
11	103121037	GT	G	T103121038A	DYNC2H1	NM_001377.3(DYNC2H1):c.1360+2del	noncoding	Pathogenic
11	103122993	GGTTT	G	T103122996G	DYNC2H1	NM_001377.3(DYNC2H1):c.1657_1660del:p.Leu553fs	coding	Pathogenic
11	103125281	ATTATTC	A	T103125285A	DYNC2H1	NM_001377.3(DYNC2H1):c.1847_1852del:p.Ile616_Leu617del	coding	Pathogenic
11	103133640	A	AT	G103133642T	DYNC2H1	NM_001377.3(DYNC2H1):c.2040dup:p.Ala681fs	coding	Pathogenic
11	103135758	TC	T	C103135760G	DYNC2H1	NM_001377.3(DYNC2H1):c.2386del:p.Arg796fs	coding	Pathogenic
11	103152283	CA	C	A103152284G	DYNC2H1	NM_001377.3(DYNC2H1):c.3095del:p.Gln1032fs	coding	Pathogenic
11	103154500	AG	A	G103154501T	DYNC2H1	NM_001377.3(DYNC2H1):c.3353del:p.Ser1118fs	coding	Pathogenic
11	103155311	CTT	C	T103155322G	DYNC2H1	NM_001377.3(DYNC2H1):c.3574-9_3574-8del	noncoding	Benign
11	103158709	G	GAGTCACAAC	T103158720G	DYNC2H1	NM_001377.3(DYNC2H1):c.4162_4170dup:p.Val1388_Thr1390dup	coding	Pathogenic/Likely_pathogenic
11	103173293	TC	T	C103173294A	DYNC2H1	NM_001377.3(DYNC2H1):c.5547del:p.Phe1849fs	coding	Pathogenic
11	103174107	AC	A	C103174108A	DYNC2H1	NM_001377.3(DYNC2H1):c.5612del:p.Thr1871fs	coding	Pathogenic
11	103176240	GAA	G	A103176242G	DYNC2H1	NM_001377.3(DYNC2H1):c.5682_5683del:p.His1896fs	coding	Pathogenic
11	103176405	GA	G	A103176406G	DYNC2H1	NM_001377.3(DYNC2H1):c.5846del:p.Glu1949fs	coding	Pathogenic
11	103177604	GT	G	T103177606G	DYNC2H1	NM_001377.3(DYNC2H1):c.5925del:p.Val1976fs	coding	Pathogenic
11	103188495	AG	A	G103188497T	DYNC2H1	NM_001080463.1(DYNC2H1):c.7141delG:p.Val2381Tyrfs	noncoding	Pathogenic
11	103189669	TAGTTACCC	T	T103189672A	DYNC2H1	NC_000011.10:g.103189670_103189677del	noncoding	Pathogenic
11	103197994	ACCATTACCT	A	T103197998C	DYNC2H1	NM_001377.3(DYNC2H1):c.7774_7782del:p.Leu2592_Pro2594del	coding	Pathogenic
11	103200102	CC	AT	C103200102A	DYNC2H1	NM_001377.3(DYNC2H1):c.8145_8146delinsAT:p.Tyr2715_Gln2716delinsTer	coding	Pathogenic
11	103204943	GT	G	T103204944C	DYNC2H1	NM_001377.3(DYNC2H1):c.8434del:p.Ser2812fs	coding	Pathogenic
11	103209947	GA	G	A103209955T	DYNC2H1	NM_001377.3(DYNC2H1):c.8534del:p.Asn2845fs	coding	Pathogenic
11	103211838	AG	A	G103211839C	DYNC2H1	NM_001377.3(DYNC2H1):c.8590del:p.Ala2864fs	coding	Pathogenic
11	103215790	AGT	A	G103215795T	DYNC2H1	NM_001377.3(DYNC2H1):c.8765_8766GT[2]:p.Leu2924fs	coding	Pathogenic
11	103231598	A	ATAT	G103231604T	DYNC2H1	NM_001377.3(DYNC2H1):c.9440+255_9440+257dup	noncoding	Benign
11	103236478	GGAAAA	G	A103236480T	DYNC2H1	NM_001377.3(DYNC2H1):c.9760_9764del:p.Trp3253_Lys3254insTer	coding	Pathogenic
11	103253346	CT	C	T103253351G	DYNC2H1	NM_001377.3(DYNC2H1):c.10109del:p.Leu3370fs	coding	Pathogenic
11	103286279	AC	A	C103286282T	DYNC2H1	NM_001377.3(DYNC2H1):c.10918del:p.Leu3640fs	coding	Pathogenic
11	103311980	AG	A	G103311981T	DYNC2H1	NM_001377.3(DYNC2H1):c.11597del:p.Ser3866fs	coding	Pathogenic
11	103316604	TGACA	T	A103316608T	DYNC2H1	NM_001377.3(DYNC2H1):c.11713_11716del:p.Arg3905fs	coding	Pathogenic
11	103455192	GTAGA	G	G103455195A	DYNC2H1	NM_001377.3(DYNC2H1):c.12466_12469del:p.Asp4156fs	coding	Pathogenic
11	103456289	C	CTG	G103456294T	DYNC2H1	NM_001377.3(DYNC2H1):c.12584_12585dup:p.Asp4196fs	coding	Pathogenic
11	103456350	A	AT	A103456351T	DYNC2H1	NM_001377.3(DYNC2H1):c.12642_12643insT:p.Ile4215fs	coding	Pathogenic
11	104944774	G	GA	T104944778A	CASP4	NM_001225.4(CASP4):c.1112dup:p.Tyr372fs	coding	Benign
11	107504867	AG	A	G107504870A	ALKBH8	NM_138775.3(ALKBH8):c.1785del:p.Trp596fs	coding	Pathogenic
11	108121653	G	GC	T108121659C	ACAT1	NM_000019.4(ACAT1):c.52dup:p.Leu18fs	coding	Pathogenic
11	108131914	GAT	G	A108131917G	ACAT1	NM_000019.4(ACAT1):c.81_82AT[1]:p.Tyr28fs	coding	Pathogenic
11	108131917	A	ATG	G108131922T	ACAT1	NM_000019.4(ACAT1):c.84_85TG[3]:p.Glu30fs	coding	Pathogenic
11	108133847	AC	A	C108133848A	ACAT1	NM_000019.4(ACAT1):c.149del:p.Thr50fs	coding	Pathogenic
11	108133927	TG	T	G108133928A	ACAT1	NM_000019.4(ACAT1):c.229del:p.Glu77fs	coding	Pathogenic
11	108135161	AT	G	A108135161G	ACAT1	NM_000019.4(ACAT1):c.354_355delinsG:p.Cys119fs	coding	Pathogenic
11	108135219	CAA	C	A108135221G	ACAT1	NM_000019.4(ACAT1):c.414_415del:p.Leu140fs	coding	Pathogenic
11	108138905	TGG	T	G108138906T	ACAT1	NM_000019.4(ACAT1):c.444_445del:p.Met148fs	coding	Pathogenic/Likely_pathogenic
11	108138907	GT	G	T108138908G	ACAT1	NM_000019.4(ACAT1):c.446del:p.Val149fs	coding	Pathogenic
11	108138924	GAGCATGTCCAATGTTCCATA	TCCTC	G108138924T	ACAT1	NM_000019.4(ACAT1):c.462_482delinsTCCTC:p.Glu154fs	coding	Pathogenic
11	108141554	CTGAATGACTACTTGTTTTGAGCGATTTTACTTAAAATATTTTTATTTTAGGTCAACCAGATGTAGTGG	C	T108141559A	ACAT1	NM_000019.4(ACAT1):c.731-46_752del	noncoding	Pathogenic
11	108141628	G	GCT	A108141629C	ACAT1	NM_000019.4(ACAT1):c.754_755insCT:p.Glu252fs	coding	Pathogenic
11	108141783	A	AAAGT	T108141786G	ACAT1	NM_000019.4(ACAT1):c.826+85_826+86insGTAA	noncoding	Benign
11	108142513	GA	G	A108142515G	ACAT1	NM_000019.4(ACAT1):c.905del:p.Lys302fs	coding	Pathogenic
11	108143957	ACC	A	C108143968T	ACAT1	NM_000019.4(ACAT1):c.941-15_941-14del	noncoding	Benign
11	108146198	TAAG	AAA	T108146198A	ACAT1	NM_000019.4(ACAT1):c.1006-4_1006-1delinsAAA	noncoding	Pathogenic
11	108146207	T	TAAAG	T108146213A	ACAT1	NM_000019.4(ACAT1):c.1013_1016dup:p.Asp339fs	coding	Pathogenic
11	108146222	G	GA	G108146229A	ACAT1	NM_000019.4(ACAT1):c.1032dup:p.Glu345fs	coding	Pathogenic
11	108146227	AAG	A	G108146229A	ACAT1	NM_000019.4(ACAT1):c.1033_1034del:p.Glu345fs	coding	Pathogenic
11	108146278	T	TA	G108146280A	ACAT1	NM_000019.4(ACAT1):c.1083dup:p.Ala362fs	coding	Pathogenic
11	108147285	G	GATTGTTGGTCATTTGACTCATGCCTTGAAGC	A108147318T	ACAT1	NM_000019.4(ACAT1):c.1181_1211dup:p.Gln404fs	coding	Pathogenic
11	108147328	G	GGTCT	T108147333G	ACAT1	NM_000019.4(ACAT1):c.1223_1226dup:p.Ala410fs	coding	Pathogenic
11	108147394	A	AC	T108147397C	ACAT1	NM_000019.4(ACAT1):c.*6dup	noncoding	Benign/Likely_benign
11	108148166	AAATT	A	T108148177A	ACAT1	NM_000019.3(ACAT1):c.*777_*780delAATT	noncoding	Benign
11	108172808	TAGA	T	A108172811G	NPAT	NM_002519.3(NPAT):c.2173_2175del:p.Ser726del	coding	Benign
11	108227631	CT	C	T108227632A	ATM	NM_000051.3(ATM):c.8del:p.Leu3fs	coding	Pathogenic/Likely_pathogenic
11	108227637	C	CT	A108227640T	ATM	NM_000051.3(ATM):c.15dup:p.Asn6Ter	coding	Pathogenic
11	108227649	CT	C	T108227651A	ATM	NM_000051.3(ATM):c.27del:p.Ile10fs	coding	Pathogenic
11	108227666	AC	A	C108227667T	ATM	NM_000051.3(ATM):c.43del:p.Gln14_Leu15insTer	coding	Pathogenic
11	108227673	CAT	C	A108227674G	ATM	NM_000051.3(ATM):c.50_51del:p.His17fs	coding	Pathogenic
11	108227773	CAGAA	C	A108227778G	ATM	NM_000051.3(ATM):c.75_78del	noncoding	Pathogenic
11	108227778	AGAAG	A	G108227779T	ATM	NM_000051.4(ATM):c.76_79del:p.Glu26fs	coding	Pathogenic
11	108227784	TGA	T	G108227787A	ATM	NM_000051.4(ATM):c.84_85del:p.Lys29fs	coding	Pathogenic
11	108227819	CAATT	C	T108227822A	ATM	NM_000051.3(ATM):c.119_122del:p.Ile40fs	coding	Pathogenic/Likely_pathogenic
11	108227836	C	CG	C108227839G	ATM	NM_000051.4(ATM):c.135dup:p.His46fs	coding	Pathogenic
11	108227838	GCATT	G	T108227841G	ATM	NM_000051.3(ATM):c.138_141del:p.His46fs	coding	Pathogenic
11	108227872	TG	T	G108227875A	ATM	NM_000051.3(ATM):c.172del:p.Asp58fs	coding	Pathogenic
11	108229183	TA	T	A108229184C	ATM	NM_000051.3(ATM):c.192del:p.Leu64fs	coding	Pathogenic/Likely_pathogenic
11	108229183	T	TA	C108229185A	ATM	NM_000051.3(ATM):c.192dup:p.Gln65fs	coding	Pathogenic
11	108229207	CAG	C	G108229209A	ATM	NM_000051.3(ATM):c.217_218del:p.Glu73fs	coding	Pathogenic
11	108229219	G	GA	T108229222A	ATM	NM_000051.3(ATM):c.229dup:p.Ile77fs	coding	Pathogenic
11	108229225	CA	C	A108229229C	ATM	NM_000051.3(ATM):c.237del:p.Lys79fs	coding	Pathogenic/Likely_pathogenic
11	108229231	C	CA	T108229235A	ATM	NM_000051.4(ATM):c.242dup:p.Asn81fs	coding	Pathogenic/Likely_pathogenic
11	108229278	GA	G	A108229281T	ATM	NM_000051.3(ATM):c.289del:p.Ile97fs	coding	Pathogenic
11	108229301	CT	C	T108229303C	ATM	NM_000051.3(ATM):c.311del:p.Phe104fs	coding	Pathogenic
11	108229307	CA	C	A108229310T	ATM	NM_000051.4(ATM):c.318del:p.Lys106fs	coding	Pathogenic
11	108229311	T	TG	T108229313G	ATM	NM_000051.4(ATM):c.320dup:p.Cys107fs	coding	Pathogenic
11	108235511	AT	A	T108235512G	ATM	NM_000051.3(ATM):c.332-158del	noncoding	Benign
11	108235693	G	GA	C108235696A	ATM	NM_000051.3(ATM):c.357dup:p.Leu120fs	coding	Pathogenic
11	108235698	CTTAAA	C	A108235702T	ATM	NM_000051.3(ATM):c.364_368del:p.Asn122fs	coding	Pathogenic
11	108235705	TA	T	A108235706T	ATM	NM_000051.3(ATM):c.368del:p.Tyr123fs	coding	Pathogenic
11	108235705	TATATC	T	A108235708G	ATM	NM_000051.4(ATM):c.370_374del:p.Ile124fs	coding	Pathogenic
11	108235712	TGGATACA	T	G108235714T	ATM	NM_000051.4(ATM):c.376_382del:p.Met125_Asp126insTer	coding	Pathogenic
11	108235715	AT	A	T108235716A	ATM	NM_000051.3(ATM):c.378del:p.Asp126fs	coding	Pathogenic/Likely_pathogenic
11	108235718	CA	C	A108235719G	ATM	NM_001351834.2(ATM):c.381del:p.Thr127_Val128insTer	coding	Pathogenic/Likely_pathogenic
11	108235722	GA	G	A108235725G	ATM	NM_000051.3(ATM):c.387del:p.Asp130fs	coding	Pathogenic/Likely_pathogenic
11	108235722	G	GA	G108235726A	ATM	NM_000051.4(ATM):c.387dup:p.Asp130fs	coding	Pathogenic
11	108235727	A	AT	C108235730T	ATM	NM_000051.4(ATM):c.391dup:p.Ser131fs	coding	Pathogenic
11	108235759	T	TG	T108235761G	ATM	NM_000051.4(ATM):c.422dup:p.Cys141fs	coding	Pathogenic
11	108235769	TA	T	A108235770C	ATM	NM_000051.3(ATM):c.432del:p.Leu145fs	coding	Pathogenic
11	108235769	T	TA	C108235771A	ATM	NM_000051.3(ATM):c.432dup:p.Leu145fs	coding	Pathogenic/Likely_pathogenic
11	108235776	C	CA	G108235780A	ATM	NM_000051.3(ATM):c.441dup:p.Asp148fs	coding	Pathogenic
11	108235779	A	AG	A108235781G	ATM	NM_000051.3(ATM):c.442dup:p.Asp148fs	coding	Pathogenic
11	108235781	ACATTCTT	A	C108235782T	ATM	NM_000051.4(ATM):c.444_450del:p.Ile149fs	coding	Pathogenic
11	108235783	ATTCT	A	T108235788G	ATM	NM_001351834.2(ATM):c.446_449TTCT[1]:p.Leu150_Ser151insTer	coding	Pathogenic
11	108235791	TG	T	G108235792T	ATM	NM_000051.3(ATM):c.454del:p.Ser151_Val152insTer	coding	Pathogenic
11	108235804	TG	T	G108235806T	ATM	NM_000051.4(ATM):c.468del:p.Trp156fs	coding	Pathogenic
11	108235810	GA	G	A108235813T	ATM	NM_000051.3(ATM):c.475del:p.Ile159fs	coding	Pathogenic
11	108235814	TATCTC	T	T108235816G	ATM	NM_000051.3(ATM):c.478_482del:p.Ser160fs	coding	Pathogenic/Likely_pathogenic
11	108235822	CA	C	A108235824C	ATM	NM_000051.4(ATM):c.486del:p.Gln162fs	coding	Pathogenic
11	108235828	T	TG	T108235831G	ATM	NM_000051.3(ATM):c.492dup:p.Leu165fs	coding	Pathogenic
11	108243934	A	AT	A108243950T	ATM	NM_000051.3(ATM):c.497-4dup	noncoding	Benign/Likely_benign
11	108243962	CTG	C	G108243966A	ATM	NM_000051.4(ATM):c.508_509GT[1]:p.Tyr171fs	coding	Pathogenic
11	108244003	CAT	C	T108244005G	ATM	NM_000051.3(ATM):c.549_550del:p.His183fs	coding	Pathogenic
11	108244009	G	GT	A108244014T	ATM	NM_000051.4(ATM):c.557dup:p.Leu186fs	coding	Pathogenic
11	108244017	GG	T	G108244017T	ATM	NM_000051.3(ATM):c.561_562delinsT:p.Ala188fs	coding	Pathogenic
11	108244019	CT	C	T108244020A	ATM	NM_000051.3(ATM):c.564del:p.Arg189fs	coding	Pathogenic
11	108244038	TA	T	A108244039C	ATM	NM_000051.4(ATM):c.583del:p.Thr195fs	coding	Pathogenic
11	108244058	AGACT	A	T108244062G	ATM	NM_000051.3(ATM):c.606_609del:p.Asp203_Gly204insTer	coding	Pathogenic
11	108244062	TGACGGATTAAAT	AG	T108244062A	ATM	NM_000051.4(ATM):c.606_618delinsAG:p.Asp203fs	coding	Pathogenic
11	108244075	TC	T	C108244077A	ATM	NM_000051.4(ATM):c.621del:p.Lys208fs	coding	Pathogenic
11	108244089	C	CT	C108244097T	ATM	NM_000051.4(ATM):c.640dup:p.Ser214fs	coding	Pathogenic
11	108244089	CT	C	T108244096C	ATM	NM_000051.3(ATM):c.640del:p.Ser214fs	coding	Pathogenic/Likely_pathogenic
11	108244096	TC	T	C108244098A	ATM	NM_000051.3(ATM):c.642del:p.Lys215fs	coding	Pathogenic
11	108244105	A	ATT	C108244108T	ATM	NM_000051.4(ATM):c.650_651dup:p.Gln218fs	coding	Pathogenic
11	108244805	C	CA	G108244807A	ATM	NM_000051.3(ATM):c.681dup:p.Gly228fs	coding	Pathogenic
11	108244811	TA	T	A108244814T	ATM	NM_000051.3(ATM):c.689del:p.Asn230fs	coding	Pathogenic
11	108244828	GC	G	C108244829T	ATM	NM_000051.4(ATM):c.704del:p.Ala235fs	coding	Pathogenic
11	108244831	CT	C	T108244833A	ATM	NM_000051.3(ATM):c.708del:p.Thr237fs	coding	Pathogenic
11	108244833	T	TA	C108244835A	ATM	NM_000051.4(ATM):c.709dup:p.Thr237fs	coding	Pathogenic
11	108244834	AC	A	C108244835T	ATM	NM_000051.3(ATM):c.710del:p.Thr237fs	coding	Pathogenic
11	108244839	CT	C	T108244841C	ATM	NM_000051.4(ATM):c.716del:p.Phe239fs	coding	Pathogenic
11	108244841	TCCTC	T	C108244842A	ATM	NM_000051.3(ATM):c.717_720del:p.Phe239fs	coding	Pathogenic
11	108244848	GACTTTGGCTGTCA	G	G108244854C	ATM	NM_000051.4(ATM):c.729_741del:p.Leu243fs	coding	Pathogenic
11	108244863	C	CT	C108244867T	ATM	NM_000051.3(ATM):c.741dup:p.Arg248fs	coding	Pathogenic
11	108244875	AGT	A	T108244881A	ATM	NM_000051.4(ATM):c.752_753TG[2]:p.Cys252_Glu253delinsTer	coding	Pathogenic/Likely_pathogenic
11	108244912	CT	C	T108244915A	ATM	NM_000051.3(ATM):c.790del:p.Tyr264fs	coding	Pathogenic
11	108244946	C	CTTTAAAAGAAGTCATTATTGAATTA	C108244975A	ATM	NM_000051.3(ATM):c.825_849dup:p.Gln284delinsLysArgSerHisTyrTer	coding	Pathogenic
11	108244946	CT	C	T108244949A	ATM	NM_000051.3(ATM):c.824del:p.Ser274_Leu275insTer	coding	Pathogenic
11	108244979	TG	T	G108244980C	ATM	NM_000051.3(ATM):c.855del:p.Gln286fs	coding	Pathogenic
11	108244980	GC	CT	G108244980C	ATM	NM_000051.4(ATM):c.855_856delinsCT:p.Gln286Ter	coding	Pathogenic
11	108244988	AT	A	T108244989A	ATM	NM_000051.3(ATM):c.864del:p.Ile287_Tyr288insTer	coding	Pathogenic
11	108245020	GA	G	A108245025G	ATM	NM_000051.3(ATM):c.900del:p.Gly301fs	coding	Pathogenic/Likely_pathogenic
11	108245028	T	AA	T108245028A	ATM	NM_000051.3(ATM):c.901+2delinsAA	noncoding	Pathogenic
11	108246990	AG	A	G108246991T	ATM	NM_000051.3(ATM):c.929del:p.Ser310fs	coding	Pathogenic
11	108246993	A	AT	A108246998T	ATM	NM_000051.4(ATM):c.935dup:p.Leu312fs	coding	Pathogenic
11	108247004	CT	C	T108247006A	ATM	NM_000051.3(ATM):c.944del:p.Leu315fs	coding	Pathogenic
11	108247004	CTT	C	T108247005A	ATM	NM_000051.4(ATM):c.943_944del:p.Leu315fs	coding	Pathogenic
11	108247006	TATATG	T	A108247009C	ATM	NM_000051.3(ATM):c.947_951del:p.Tyr316fs	coding	Pathogenic
11	108247023	AATGAG	A	G108247026A	ATM	NM_001351834.2(ATM):c.964_968del:p.Glu322fs	coding	Pathogenic
11	108247035	CAT	C	T108247039G	ATM	NM_001351834.2(ATM):c.975_976TA[1]:p.Ile326fs	coding	Pathogenic
11	108247036	AT	A	T108247037A	ATM	NM_000051.4(ATM):c.975del:p.His325fs	coding	Pathogenic
11	108247039	TA	T	A108247040G	ATM	NM_000051.3(ATM):c.978del:p.Ile326fs	coding	Pathogenic
11	108247051	GA	G	A108247054G	ATM	NM_000051.3(ATM):c.992del:p.Lys331fs	coding	Pathogenic
11	108247067	AT	A	T108247070C	ATM	NM_000051.4(ATM):c.1008del:p.Arg337fs	coding	Pathogenic
11	108247077	AT	A	T108247079G	ATM	NM_000051.3(ATM):c.1017del:p.Ile339fs	coding	Pathogenic
11	108247085	CAAAG	C	G108247089A	ATM	NM_000051.3(ATM):c.1027_1030delGAAA	coding	Pathogenic/Likely_pathogenic
11	108247097	GA	G	A108247098T	ATM	NM_000051.3(ATM):c.1036del:p.Ile346fs	coding	Pathogenic
11	108247105	TGA	T	G108247106T	ATM	NM_000051.4(ATM):c.1044_1045del:p.Leu348fs	coding	Pathogenic
11	108247106	GATGGCAGA	G	A108247107T	ATM	NM_000051.3(ATM):c.1045_1052del:p.Met349fs	coding	Pathogenic
11	108247114	A	AT	A108247116T	ATM	NM_000051.3(ATM):c.1053dup:p.Ile352fs	coding	Pathogenic
11	108247116	ATC	A	C108247118G	ATM	NM_000051.4(ATM):c.1056_1057del:p.Ile352fs	coding	Pathogenic
11	108247118	CTG	C	G108247120C	ATM	NM_000051.3(ATM):c.1058_1059del:p.Cys353fs	coding	Pathogenic
11	108248938	T	TA	T108248941A	ATM	NM_000051.4(ATM):c.1073dup:p.Asn358fs	coding	Pathogenic
11	108248975	T	TA	C108248977A	ATM	NM_000051.3(ATM):c.1109dup:p.Tyr370Ter	coding	Pathogenic/Likely_pathogenic
11	108248976	AC	A	C108248977A	ATM	NM_000051.4(ATM):c.1110del:p.Ser369_Tyr370insTer	coding	Pathogenic
11	108248987	CAA	C	A108248989G	ATM	NM_000051.4(ATM):c.1122_1123del:p.Glu376fs	coding	Pathogenic/Likely_pathogenic
11	108248989	AAG	A	G108248993A	ATM	NM_001351834.2(ATM):c.1124_1125GA[1]:p.Glu376fs	coding	Pathogenic
11	108248990	AG	A	G108248991A	ATM	NM_000051.3(ATM):c.1124del:p.Arg375fs	coding	Pathogenic
11	108249005	TAC	T	C108249007G	ATM	NM_000051.3(ATM):c.1140_1141del:p.Tyr380_Ser381delinsTer	coding	Pathogenic
11	108249005	T	TACAG	T108249010A	ATM	NM_000051.3(ATM):c.1139_1142dup:p.Ser381fs	coding	Pathogenic/Likely_pathogenic
11	108249017	T	TG	C108249019G	ATM	NM_000051.4(ATM):c.1151dup:p.Cys384fs	coding	Pathogenic
11	108249023	AG	A	G108249025A	ATM	NM_000051.3(ATM):c.1158del:p.Lys387fs	coding	Pathogenic
11	108249044	TGG	T	G108249046A	ATM	NM_000051.3(ATM):c.1179_1180del:p.Trp393_Glu394delinsTer	coding	Pathogenic/Likely_pathogenic
11	108249054	TAA	T	A108249057G	ATM	NM_000051.4(ATM):c.1190_1191del:p.Lys397fs	coding	Pathogenic
11	108249077	CAG	C	G108249079A	ATM	NM_000051.3(ATM):c.1212_1213del:p.Gln404_Asn405insTer	coding	Pathogenic
11	108249079	GA	G	A108249081T	ATM	NM_000051.4(ATM):c.1214del:p.Asn405fs	coding	Pathogenic
11	108249081	AT	A	T108249082G	ATM	NM_001351834.2(ATM):c.1215del:p.Asn405fs	coding	Pathogenic/Likely_pathogenic
11	108249084	A	AT	G108249089T	ATM	NM_000051.3(ATM):c.1221dup:p.Asp408Ter	coding	Pathogenic
11	108249095	G	GTGCCT	G108249103C	ATM	NM_000051.4(ATM):c.1231_1235dup:p.Trp412fs	coding	Pathogenic
11	108250683	C	CT	A108250699T	ATM	NM_000051.3(ATM):c.1236-3dup	noncoding	Benign/Likely_benign
11	108250683	C	CTTTTTTTT	A108250699T	ATM	NM_000051.3(ATM):c.1236-10_1236-3dup	noncoding	Benign
11	108250683	CT	C	T108250698A	ATM	NM_000051.3(ATM):c.1236-3del	noncoding	Benign/Likely_benign
11	108250697	TTA	T	T108250698G	ATM	NM_000051.3(ATM):c.1236-3_1236-2del	noncoding	Pathogenic
11	108250712	CA	C	A108250714C	ATM	NM_001351834.2(ATM):c.1249del:p.Thr417fs	coding	Pathogenic/Likely_pathogenic
11	108250737	TGCAA	T	C108250739T	ATM	NM_000051.4(ATM):c.1274_1277del:p.Ala425fs	coding	Pathogenic
11	108250748	CTAACTGTG	C	T108250749A	ATM	NM_000051.3(ATM):c.1284_1291del:p.Asn429fs	coding	Pathogenic
11	108250752	CTG	C	T108250755A	ATM	NM_001351834.2(ATM):c.1288_1289TG[1]:p.Cys430_Glu431delinsTer	coding	Pathogenic/Likely_pathogenic
11	108250778	T	TA	C108250780A	ATM	NM_000051.3(ATM):c.1314dup:p.Leu439fs	coding	Pathogenic
11	108250782	ATC	A	T108250785A	ATM	NM_001351834.2(ATM):c.1318_1319TC[1]:p.Gln441fs	coding	Pathogenic
11	108250793	TA	T	A108250794C	ATM	NM_000051.3(ATM):c.1329del:p.Gln445fs	coding	Pathogenic
11	108250794	AC	A	C108250798A	ATM	NM_000051.3(ATM):c.1333del:p.Gln445fs	coding	Pathogenic
11	108250809	TG	T	G108250813A	ATM	NM_000051.3(ATM):c.1348del:p.Glu450fs	coding	Pathogenic
11	108250819	AC	A	C108250820A	ATM	NM_000051.3(ATM):c.1355del:p.Thr452fs	coding	Pathogenic/Likely_pathogenic
11	108250821	A	AC	A108250824C	ATM	NM_000051.3(ATM):c.1358dup:p.Tyr454fs	coding	Pathogenic
11	108250832	T	TA	C108250834A	ATM	NM_000051.3(ATM):c.1368dup:p.Arg457fs	coding	Pathogenic
11	108250842	T	TA	C108250844A	ATM	NM_000051.4(ATM):c.1378dup:p.Thr460fs	coding	Pathogenic
11	108250854	ATTGTG	A	T108250856C	ATM	NM_000051.4(ATM):c.1391_1395del:p.Leu464fs	coding	Pathogenic
11	108250855	TTG	T	G108250859C	ATM	NM_001351834.2(ATM):c.1392_1393GT[1]:p.Cys465fs	coding	Pathogenic
11	108250866	CAA	C	A108250867G	ATM	NM_001351834.2(ATM):c.1402_1403del:p.Lys468fs	coding	Pathogenic/Likely_pathogenic
11	108250872	GTCAAACCTAGAAAGCT	G	T108250873C	ATM	NM_000051.4(ATM):c.1408_1423del:p.Ser470fs	coding	Pathogenic
11	108250885	AGCT	TCTGAC	A108250885T	ATM	NM_000051.4(ATM):c.1420_1423delinsTCTGAC:p.Ser475fs	coding	Pathogenic
11	108250898	CAG	C	G108250900T	ATM	NM_000051.3(ATM):c.1435_1436del:p.Asp479fs	coding	Pathogenic/Likely_pathogenic
11	108250902	TTTATTAAAAC	T	T108250904C	ATM	NM_000051.3(ATM):c.1439_1448del:p.Leu480fs	coding	Pathogenic
11	108250907	TA	T	A108250911C	ATM	NM_000051.3(ATM):c.1446del:p.Lys482fs	coding	Pathogenic
11	108250927	TG	T	G108250929T	ATM	NM_000051.3(ATM):c.1464del:p.Trp488fs	coding	Pathogenic
11	108250928	GGT	G	G108250931A	ATM	NM_000051.4(ATM):c.1466_1467del:p.Cys489fs	coding	Pathogenic
11	108250931	G	GT	A108250933T	ATM	NM_000051.3(ATM):c.1467dup:p.Ile490fs	coding	Pathogenic
11	108250935	T	TA	C108250937A	ATM	NM_000051.4(ATM):c.1471dup:p.Thr491fs	coding	Pathogenic
11	108250938	C	CT	C108250942T	ATM	NM_000051.4(ATM):c.1476dup:p.Arg493fs	coding	Pathogenic
11	108250976	AC	A	C108250977T	ATM	NM_000051.3(ATM):c.1512del:p.Phe505fs	coding	Pathogenic
11	108250977	CTT	C	T108250979G	ATM	NM_000051.3(ATM):c.1514_1515del:p.Phe505fs	coding	Pathogenic
11	108250983	CTTACT	C	T108250985G	ATM	NM_000051.4(ATM):c.1520_1524del:p.Leu507fs	coding	Pathogenic
11	108250987	CT	C	T108250989G	ATM	NM_000051.3(ATM):c.1524del:p.Gly509fs	coding	Pathogenic/Likely_pathogenic
11	108250993	GC	G	C108250995A	ATM	NM_000051.4(ATM):c.1530del:p.Ala510_Ile511insTer	coding	Pathogenic
11	108251001	TC	T	C108251002A	ATM	NM_000051.4(ATM):c.1537del:p.Gln513fs	coding	Pathogenic
11	108251025	CAG	C	G108251029A	ATM	NM_001351834.2(ATM):c.1562_1563GA[1]:p.Glu522fs	coding	Pathogenic
11	108251060	G	GCAGA	C108251066A	ATM	NM_000051.3(ATM):c.1597_1600dup:p.Pro534fs	coding	Pathogenic
11	108251868	ACCACCAGTATAGTT	A	C108251872G	ATM	NM_000051.4(ATM):c.1643_1656del:p.Thr548fs	coding	Pathogenic
11	108251871	AC	A	C108251873A	ATM	NM_000051.4(ATM):c.1644del:p.Ser549fs	coding	Pathogenic
11	108251880	GT	G	T108251882C	ATM	NM_000051.4(ATM):c.1653del:p.Pro552fs	coding	Pathogenic
11	108251882	TC	T	C108251884A	ATM	NM_000051.3(ATM):c.1655del:p.Pro552fs	coding	Pathogenic/Likely_pathogenic
11	108251885	AG	A	G108251887A	ATM	NM_000051.3(ATM):c.1658del:p.Gly553fs	coding	Pathogenic
11	108251887	GA	G	A108251889C	ATM	NM_000051.3(ATM):c.1660del:p.Thr554fs	coding	Pathogenic
11	108251916	ATG	A	T108251921A	ATM	NM_000051.4(ATM):c.1688_1689TG[2]:p.Cys564_Glu565delinsTer	coding	Pathogenic
11	108251966	GCT	G	C108251969T	ATM	NM_000051.4(ATM):c.1740_1741del:p.Leu581fs	coding	Pathogenic
11	108251970	TTATTC	T	T108251974C	ATM	NM_000051.3(ATM):c.1745_1749del:p.Phe582fs	coding	Pathogenic
11	108251979	CAGTT	C	T108251982A	ATM	NM_000051.3(ATM):c.1753_1756del:p.Leu585fs	coding	Pathogenic/Likely_pathogenic
11	108251981	G	GT	A108251984T	ATM	NM_000051.3(ATM):c.1754dup:p.Leu585fs	coding	Pathogenic/Likely_pathogenic
11	108251997	G	GA	T108252002A	ATM	NM_000051.3(ATM):c.1772dup:p.Asn591fs	coding	Pathogenic
11	108252849	TTG	T	T108252852A	ATM	NM_000051.4(ATM):c.1836_1837TG[1]:p.Val613fs	coding	Pathogenic
11	108252850	TGTGA	T	G108252853C	ATM	NM_000051.3(ATM):c.1839_1842del:p.Leu615_Thr616insTer	coding	Pathogenic
11	108252851	G	GT	G108252853T	ATM	NM_000051.3(ATM):c.1838dup:p.Ser614fs	coding	Pathogenic
11	108252856	T	TCTCA	A108252863C	ATM	NM_000051.4(ATM):c.1845_1848dup:p.Met617fs	coding	Pathogenic
11	108252860	A	AC	T108252862C	ATM	NM_000051.4(ATM):c.1847dup:p.Met617fs	coding	Pathogenic
11	108252871	CT	C	T108252872G	ATM	NM_000051.3(ATM):c.1858del:p.Cys620fs	coding	Pathogenic
11	108252871	CTG	C	G108252873A	ATM	NM_000051.4(ATM):c.1859_1860del:p.Asn619_Cys620insTer	coding	Pathogenic
11	108252888	A	AT	C108252895T	ATM	NM_000051.3(ATM):c.1880dup:p.Gln628fs	coding	Pathogenic
11	108253828	A	AAGATAAAGAAGAACTT	T108253845A	ATM	NM_000051.4(ATM):c.1914_1929dup:p.Ser644delinsArgTer	coding	Pathogenic
11	108253830	G	GT	A108253831T	ATM	NM_000051.3(ATM):c.1915_1916insT:p.Asp639fs	coding	Pathogenic/Likely_pathogenic
11	108253832	TAAAG	T	A108253835G	ATM	NM_001351834.2(ATM):c.1920_1923del:p.Glu641fs	coding	Pathogenic
11	108253832	T	TA	G108253836A	ATM	NM_000051.4(ATM):c.1920dup:p.Glu641fs	coding	Pathogenic
11	108253892	G	GA	T108253894A	ATM	NM_000051.3(ATM):c.1978dup:p.Met660fs	coding	Pathogenic
11	108253908	AT	A	T108253910G	ATM	NM_000051.3(ATM):c.1995del:p.Ile665fs	coding	Pathogenic
11	108253911	GT	G	T108253912G	ATM	NM_000051.4(ATM):c.1997del:p.Val666fs	coding	Pathogenic
11	108253912	T	TGAGA	A108253919G	ATM	NM_001351834.2(ATM):c.1998_1999GA[5]:p.Cys669fs	coding	Pathogenic
11	108253933	AG	A	G108253934C	ATM	NM_000051.3(ATM):c.2019del:p.Lys673fs	coding	Pathogenic
11	108254023	ATAAT	A	A108254026C	ATM	NM_000051.4(ATM):c.2111_2114del:p.Asn704fs	coding	Pathogenic
11	108254026	AT	A	T108254028A	ATM	NM_000051.3(ATM):c.2113del:p.Tyr705fs	coding	Pathogenic
11	108254028	T	TA	C108254030A	ATM	NM_000051.4(ATM):c.2114dup:p.Tyr705Ter	coding	Pathogenic
11	108254029	ACT	A	T108254031A	ATM	NM_000051.3(ATM):c.2116_2117del:p.Ser706fs	coding	Pathogenic
11	108254032	CATCTG	C	T108254034G	ATM	NM_000051.3(ATM):c.2119_2123del:p.Ser707fs	coding	Pathogenic
11	108256214	GA	G	A108256215T	ATM	NM_000051.3(ATM):c.2125del:p.Ile709fs	coding	Pathogenic/Likely_pathogenic
11	108256218	AC	A	C108256219A	ATM	NM_000051.3(ATM):c.2129del:p.Thr710fs	coding	Pathogenic
11	108256222	AT	A	T108256224C	ATM	NM_000051.3(ATM):c.2134del:p.Ser712fs	coding	Pathogenic
11	108256227	GA	G	A108256230C	ATM	NM_000051.4(ATM):c.2140del:p.Thr714fs	coding	Pathogenic/Likely_pathogenic
11	108256251	C	CT	G108256256T	ATM	NM_001351834.2(ATM):c.2165dup:p.Leu722fs	coding	Pathogenic/Likely_pathogenic
11	108256254	TTGGTGGG	T	G108256257T	ATM	NM_000051.3(ATM):c.2167_2173del:p.Val723fs	coding	Pathogenic
11	108256281	T	TA	C108256283A	ATM	NM_000051.3(ATM):c.2192dup:p.Tyr731Ter	coding	Pathogenic/Likely_pathogenic
11	108256282	AC	A	C108256283A	ATM	NM_000051.4(ATM):c.2193del:p.Cys730_Tyr731insTer	coding	Pathogenic
11	108256284	A	AT	G108256286T	ATM	NM_000051.3(ATM):c.2195dup:p.Met732fs	coding	Pathogenic
11	108256291	T	TC	A108256292C	ATM	NM_000051.3(ATM):c.2201_2202insC:p.Ile735fs	coding	Pathogenic
11	108257458	A	AT	C108257464T	ATM	NM_000051.3(ATM):c.2251-18dup	noncoding	Benign
11	108257484	C	CT	A108257486T	ATM	NM_000051.3(ATM):c.2255dup:p.Met753fs	coding	Pathogenic
11	108257490	CA	C	A108257492T	ATM	NM_000051.4(ATM):c.2262del:p.Gln754fs	coding	Pathogenic
11	108257498	AG	A	G108257500A	ATM	NM_000051.3(ATM):c.2270del:p.Gly757fs	coding	Pathogenic
11	108257511	ACT	A	C108257514G	ATM	NM_001351834.2(ATM):c.2282_2283CT[1]:p.Leu762fs	coding	Pathogenic/Likely_pathogenic
11	108257514	CTG	C	G108257516T	ATM	NM_000051.3(ATM):c.2286_2287del:p.Leu762_Phe763insTer	coding	Pathogenic/Likely_pathogenic
11	108257517	TTTAAAAA	T	T108257519A	ATM	NM_000051.3(ATM):c.2289_2295del:p.Phe763fs	coding	Pathogenic
11	108257524	AT	A	T108257525A	ATM	NM_000051.3(ATM):c.2295del:p.Asn765fs	coding	Pathogenic/Likely_pathogenic
11	108257530	CAAAT	C	A108257531G	ATM	NM_000051.3(ATM):c.2301_2304del:p.Asn768fs	coding	Pathogenic
11	108257533	A	ATT	G108257535T	ATM	NM_000051.4(ATM):c.2304_2305insTT:p.Glu769fs	coding	Pathogenic
11	108257574	C	CT	A108257576T	ATM	NM_000051.4(ATM):c.2345dup:p.Cys783fs	coding	Pathogenic
11	108257592	AGC	A	G108257593A	ATM	NM_000051.4(ATM):c.2363_2364del:p.Ser788fs	coding	Pathogenic
11	108258985	G	GAA	G108258988A	ATM	NM_000051.3(ATM):c.2377_2378dup:p.Ser794fs	coding	Pathogenic/Likely_pathogenic
11	108259049	GA	G	A108259050C	ATM	NM_000051.4(ATM):c.2441del:p.Asp814fs	coding	Pathogenic
11	108259070	AG	A	G108259071T	ATM	NM_000051.4(ATM):c.2462del:p.Ser821fs	coding	Pathogenic
11	108259075	AG	A	G108259076T	ATM	NM_000051.3(ATM):c.2466+1del	coding	Pathogenic
11	108267178	T	TC	A108267180C	ATM	NM_000051.4(ATM):c.2475dup:p.Ile826fs	coding	Pathogenic
11	108267182	CA	C	A108267187G	ATM	NM_000051.3(ATM):c.2483del:p.Lys828fs	coding	Pathogenic
11	108267196	A	AC	G108267199C	ATM	NM_000051.3(ATM):c.2494dup:p.Arg832fs	coding	Pathogenic
11	108267204	G	GA	G108267207A	ATM	NM_000051.3(ATM):c.2502dup:p.Val835fs	coding	Pathogenic
11	108267206	AG	A	G108267207T	ATM	NM_000051.4(ATM):c.2503del:p.Glu834_Val835insTer	coding	Pathogenic
11	108267210	G	GA	T108267213A	ATM	NM_000051.3(ATM):c.2508dup:p.Ser837fs	coding	Pathogenic
11	108267224	TG	T	G108267225A	ATM	NM_001351834.2(ATM):c.2521del:p.Asp841fs	coding	Pathogenic
11	108267227	T	TA	C108267229A	ATM	NM_000051.3(ATM):c.2524dup:p.Thr842fs	coding	Pathogenic
11	108267235	GA	G	A108267238T	ATM	NM_000051.3(ATM):c.2534del:p.Asn845fs	coding	Pathogenic
11	108267267	A	AT	G108267269T	ATM	NM_000051.3(ATM):c.2564dup:p.Met855fs	coding	Pathogenic
11	108267273	CTATT	C	T108267276A	ATM	NM_000051.3(ATM):c.2572_2575del:p.Phe858fs	coding	Pathogenic
11	108267301	TTAGTGATGCAAAC	T	T108267302G	ATM	NM_000051.3(ATM):c.2598_2610del:p.Ser867fs	coding	Pathogenic
11	108267309	GCA	G	C108267310A	ATM	NM_000051.3(ATM):c.2606_2607del:p.Ala869fs	coding	Pathogenic/Likely_pathogenic
11	108267315	G	GA	C108267318A	ATM	NM_000051.3(ATM):c.2613dup:p.Pro872fs	coding	Pathogenic
11	108267327	AG	A	G108267328C	ATM	NM_000051.3(ATM):c.2624del:p.Ser875fs	coding	Pathogenic
11	108268425	TAG	AA	T108268425A	ATM	NM_000051.3(ATM):c.2654_2656delinsAA:p.Leu885_Ala886delinsTer	coding	Pathogenic
11	108268470	T	TG	C108268472G	ATM	NM_000051.3(ATM):c.2700dup:p.Leu901fs	coding	Pathogenic
11	108268487	TTGTG	T	G108268491A	ATM	NM_001351834.2(ATM):c.2718_2719GT[1]:p.Leu906_Cys907insTer	coding	Pathogenic
11	108268497	CT	C	T108268498A	ATM	NM_000051.3(ATM):c.2727del:p.Thr910fs	coding	Pathogenic
11	108268501	T	TAG	G108268502A	ATM	NM_000051.3(ATM):c.2730_2731insAG:p.Ala911fs	coding	Pathogenic/Likely_pathogenic
11	108268519	G	GT	C108268521T	ATM	NM_000051.3(ATM):c.2749dup:p.Ser917fs	coding	Pathogenic
11	108268522	CT	C	T108268525A	ATM	NM_000051.3(ATM):c.2754del:p.Phe918fs	coding	Pathogenic
11	108268526	AG	A	G108268529C	ATM	NM_000051.4(ATM):c.2758del:p.Ala920fs	coding	Pathogenic
11	108268544	AG	A	G108268546A	ATM	NM_000051.3(ATM):c.2775del:p.Lys926fs	coding	Pathogenic
11	108268575	C	CGCTA	A108268581C	ATM	NM_000051.3(ATM):c.2806_2809dup:p.Glu937fs	coding	Pathogenic
11	108268586	AC	A	C108268588A	ATM	NM_000051.3(ATM):c.2817del:p.Lys940fs	coding	Pathogenic
11	108268608	TG	T	G108268610T	ATM	NM_000051.4(ATM):c.2838+1del	coding	Pathogenic
11	108271039	A	AT	C108271047T	ATM	NM_000051.3(ATM):c.2839-18dup	noncoding	Benign/Likely_benign
11	108271061	TAGT	GATACTA	T108271061G	ATM	NM_000051.3(ATM):c.2839-3_2839delinsGATACTA	noncoding	Pathogenic/Likely_pathogenic
11	108271101	AC	A	C108271105T	ATM	NM_000051.3(ATM):c.2880del:p.Leu961fs	coding	Pathogenic/Likely_pathogenic
11	108271105	CT	C	T108271107G	ATM	NM_000051.3(ATM):c.2882del:p.Leu961fs	coding	Pathogenic
11	108271122	TTC	GCCAA	T108271122G	ATM	NM_000051.3(ATM):c.2897_2899delinsGCCAA:p.Val966fs	coding	Pathogenic
11	108271135	GAAACC	G	A108271137C	ATM	NM_000051.3(ATM):c.2912_2916del:p.Lys971fs	coding	Pathogenic
11	108271164	T	TA	T108271166A	ATM	NM_000051.3(ATM):c.2921+19dup	noncoding	Benign
11	108271199	ATGTGTTCTGTTAAGCTTATAAAGTTGAACTTTTTTTTTTTTTTTACCACAGCAATGTGTGTTCTTTG	A	G108271201A	ATM	NM_000051.3(ATM):c.2922-50_2938del	noncoding	Pathogenic
11	108271228	CT	C	T108271243A	ATM	NM_000051.3(ATM):c.2922-8del	noncoding	Benign/Likely_benign
11	108271228	CTTT	C	T108271241A	ATM	NM_000051.3(ATM):c.2922-10_2922-8del	noncoding	Benign
11	108271253	ATG	A	G108271259T	ATM	NM_000051.4(ATM):c.2926_2927GT[2]:p.Cys977fs	coding	Pathogenic
11	108271266	GT	G	T108271267A	ATM	NM_001351834.2(ATM):c.2938del:p.Tyr980fs	coding	Pathogenic
11	108271290	TA	T	A108271294C	ATM	NM_000051.3(ATM):c.2965del:p.Thr989fs	coding	Pathogenic
11	108271312	CTTCA	C	T108271314G	ATM	NM_000051.3(ATM):c.2985_2988del:p.Leu995_His996insTer	coding	Pathogenic
11	108271323	GA	G	A108271328C	ATM	NM_000051.4(ATM):c.2999del:p.Asn1000fs	coding	Pathogenic
11	108271352	C	CT	G108271354T	ATM	NM_000051.3(ATM):c.3024dup:p.Glu1009Ter	coding	Pathogenic/Likely_pathogenic
11	108271352	C	CTT	G108271354T	ATM	NM_000051.4(ATM):c.3024_3025insTT:p.Glu1009fs	coding	Pathogenic
11	108271356	GAA	G	A108271357C	ATM	NM_000051.4(ATM):c.3028_3029del:p.Asn1010fs	coding	Pathogenic
11	108271366	G	GA	T108271368A	ATM	NM_000051.3(ATM):c.3038dup:p.Asp1013fs	coding	Pathogenic
11	108271372	CAA	C	A108271373G	ATM	NM_000051.3(ATM):c.3044_3045del:p.Gln1015fs	coding	Pathogenic
11	108272537	T	TA	C108272540A	ATM	NM_000051.3(ATM):c.3085dup:p.Thr1029fs	coding	Pathogenic
11	108272552	A	AAT	T108272561A	ATM	NM_000051.4(ATM):c.3099_3100AT[5]:p.Phe1036fs	coding	Pathogenic
11	108272748	TC	T	C108272749T	ATM	NM_000051.4(ATM):c.3181del:p.Asn1062fs	coding	Pathogenic
11	108272772	TC	T	C108272774T	ATM	NM_001351834.2(ATM):c.3206del:p.Pro1069fs	coding	Pathogenic
11	108272785	G	GT	A108272787T	ATM	NM_000051.3(ATM):c.3218dup:p.Phe1074fs	coding	Pathogenic/Likely_pathogenic
11	108272796	A	AT	C108272800T	ATM	NM_000051.3(ATM):c.3231dup:p.Leu1078fs	coding	Pathogenic/Likely_pathogenic
11	108272807	ACAAT	A	A108272810T	ATM	NM_000051.3(ATM):c.3242_3245del:p.Asn1081fs	coding	Pathogenic
11	108272812	C	CG	A108272813G	ATM	NM_000051.3(ATM):c.3244_3245insG:p.His1082fs	coding	Pathogenic
11	108272813	ATC	TGAT	A108272813T	ATM	NM_001351834.2(ATM):c.3245_3247delinsTGAT:p.His1082fs	coding	Pathogenic
11	108272817	CCAAGTTCG	C	A108272820T	ATM	NM_000051.3(ATM):c.3252_3259del:p.Gln1084fs	coding	Pathogenic
11	108272828	TG	T	G108272829T	ATM	NM_000051.3(ATM):c.3261del:p.Met1087fs	coding	Pathogenic
11	108272837	CAG	C	A108272840T	ATM	NM_000051.3(ATM):c.3270_3271AG[1]:p.Glu1091fs	coding	Pathogenic
11	108272847	CA	C	A108272849T	ATM	NM_000051.3(ATM):c.3281del:p.Asn1094fs	coding	Pathogenic
11	108272847	C	CT	A108272848T	ATM	NM_000051.3(ATM):c.3279_3280insT:p.Asn1094Ter	coding	Pathogenic
11	108279480	CT	C	T108279482G	ATM	NM_000051.3(ATM):c.3285-9del	noncoding	Benign/Likely_benign
11	108279487	T	TAAGATTGTTCCAGG	C108279503A	ATM	NM_000051.3(ATM):c.3285-2_3296dup	noncoding	Pathogenic
11	108279496	TC	T	C108279498A	ATM	NM_000051.3(ATM):c.3292del:p.Gln1098fs	coding	Pathogenic/Likely_pathogenic
11	108279502	AC	A	C108279503A	ATM	NM_000051.4(ATM):c.3297del:p.Asp1099fs	coding	Pathogenic
11	108279519	T	TC	A108279522C	ATM	NM_000051.3(ATM):c.3315dup:p.Arg1106fs	coding	Pathogenic/Likely_pathogenic
11	108279539	T	TC	T108279542C	ATM	NM_000051.3(ATM):c.3335dup:p.Leu1113fs	coding	Pathogenic
11	108279555	CAAACAG	TAAACAT	C108279555T	ATM	NM_000051.3(ATM):c.3349_3355delinsTAAACAT:p.Gln1117_Ala1119delinsTer	coding	Pathogenic
11	108279555	CA	C	A108279558C	ATM	NM_000051.4(ATM):c.3352del:p.Thr1118fs	coding	Pathogenic
11	108279574	CA	C	A108279575T	ATM	NM_000051.3(ATM):c.3369del:p.Tyr1124fs	coding	Pathogenic
11	108279586	CTCAG	C	T108279587G	ATM	NM_000051.3(ATM):c.3381_3384del:p.Gln1128fs	coding	Pathogenic/Likely_pathogenic
11	108279591	GA	G	A108279593G	ATM	NM_000051.4(ATM):c.3387del:p.Gly1130fs	coding	Pathogenic
11	108280970	A	AT	A108280981T	ATM	NM_000051.3(ATM):c.3403-15dup	noncoding	Benign
11	108280980	TAA	T	A108280981T	ATM	NM_000051.3(ATM):c.3403-14_3403-13del	noncoding	Benign
11	108280980	T	TA	T108280983A	ATM	NM_001351834.2(ATM):c.3403-13dup	noncoding	Benign/Likely_benign
11	108280996	CCCATAGTGCTGAGAACCCTGAAAC	TTGAATGAAAT	C108280996T	ATM	NM_000051.4(ATM):c.3404_3428delinsTTGAATGAAAT:p.Ser1135_Thr1143delinsPheGluTer	coding	Pathogenic
11	108281009	GA	G	A108281011C	ATM	NM_000051.3(ATM):c.3419del:p.Asn1140fs	coding	Pathogenic
11	108281020	CT	C	T108281023G	ATM	NM_000051.4(ATM):c.3431del:p.Leu1144fs	coding	Pathogenic
11	108281020	CTT	C	T108281022G	ATM	NM_000051.3(ATM):c.3430_3431del:p.Leu1144fs	coding	Pathogenic
11	108281026	AT	A	T108281027G	ATM	NM_000051.3(ATM):c.3435del:p.Asp1145fs	coding	Pathogenic
11	108281027	TG	A	T108281027A	ATM	NM_000051.3(ATM):c.3435_3436delinsA:p.Asp1145fs	coding	Pathogenic/Likely_pathogenic
11	108281041	GAAAAT	G	A108281042C	ATM	NM_000051.3(ATM):c.3450_3454del:p.Arg1150fs	coding	Pathogenic
11	108281067	G	GCTGTGGTTTTATC	A108281085G	ATM	NM_000051.3(ATM):c.3480_3492dup:p.Ser1165delinsGlyPheIleLeuTer	coding	Pathogenic
11	108281073	GT	G	T108281077A	ATM	NM_000051.4(ATM):c.3485del:p.Leu1162fs	coding	Pathogenic
11	108281079	T	TC	T108281082C	ATM	NM_000051.4(ATM):c.3489dup:p.Cys1164fs	coding	Pathogenic
11	108281097	G	GA	C108281103A	ATM	NM_000051.3(ATM):c.3510dup:p.Gln1171fs	coding	Pathogenic
11	108281101	A	AAC	G108281105C	ATM	NM_000051.3(ATM):c.3511_3512dup:p.Gln1171fs	coding	Pathogenic
11	108281107	CT	C	T108281110G	ATM	NM_000051.4(ATM):c.3518del:p.Leu1173fs	coding	Pathogenic
11	108281107	CTTTG	C	T108281112C	ATM	NM_000051.4(ATM):c.3516_3519TTTG[1]:p.Phe1174fs	coding	Pathogenic
11	108281115	GC	G	C108281118T	ATM	NM_000051.3(ATM):c.3526del:p.Leu1176fs	coding	Pathogenic
11	108281128	CTG	C	T108281131A	ATM	NM_000051.4(ATM):c.3537_3538TG[1]:p.Val1180fs	coding	Pathogenic
11	108281129	TG	T	G108281130T	ATM	NM_000051.3(ATM):c.3538del:p.Ser1179_Val1180insTer	coding	Pathogenic
11	108282693	CT	C	T108282698G	ATM	NM_000051.3(ATM):c.3577-12del	noncoding	Benign/Likely_benign
11	108282699	GGTTCGTGCAGGTTTTA	G	T108282701A	ATM	NM_000051.3(ATM):c.3577-9_3583del	noncoding	Pathogenic
11	108282732	CTT	C	T108282735G	ATM	NM_000051.3(ATM):c.3602_3603del:p.Phe1201fs	coding	Pathogenic
11	108282741	AT	A	T108282742A	ATM	NM_000051.3(ATM):c.3609del:p.Gly1202_Tyr1203insTer	coding	Pathogenic
11	108282747	G	GT	A108282751T	ATM	NM_000051.4(ATM):c.3617dup:p.Leu1206fs	coding	Pathogenic
11	108282750	TAGAA	G	T108282750G	ATM	NM_000051.3(ATM):c.3617_3621delinsG:p.Leu1206fs	coding	Pathogenic
11	108282757	CT	C	T108282760A	ATM	NM_000051.3(ATM):c.3627del:p.Phe1209fs	coding	Pathogenic
11	108282757	CTT	C	T108282759A	ATM	NM_001351834.2(ATM):c.3626_3627del:p.Phe1209fs	coding	Pathogenic
11	108282798	T	TAA	T108282802A	ATM	NM_000051.3(ATM):c.3666A[5]:p.Asn1223Lysfs	coding	Pathogenic
11	108282802	T	TTAG	C108282803T	ATM	NM_000051.4(ATM):c.3669_3670insTAG:p.Leu1224Ter	coding	Pathogenic
11	108282809	GATACTGA	G	T108282814A	ATM	NM_000051.4(ATM):c.3681_3687del:p.Glu1228fs	coding	Pathogenic
11	108282822	ACTTAT	A	A108282826C	ATM	NM_000051.3(ATM):c.3693_3697del:p.Leu1231fs	coding	Pathogenic
11	108282823	CTTATCTTCTTTTCCTTTTATTTTAT	C	T108282825A	ATM	NM_000051.4(ATM):c.3692_3716del:p.Asn1230_Leu1231insTer	coding	Pathogenic
11	108282828	CTTCTT	C	T108282832C	ATM	NM_000051.4(ATM):c.3699_3703del:p.Pro1235fs	coding	Pathogenic
11	108282835	TC	T	C108282837T	ATM	NM_000051.3(ATM):c.3704del:p.Pro1235fs	coding	Pathogenic
11	108282837	CTTTTA	C	T108282845A	ATM	NM_001351834.2(ATM):c.3707_3711TTATT[1]:p.Leu1238fs	coding	Pathogenic/Likely_pathogenic
11	108284233	T	TTA	A108284238T	ATM	NM_000051.3(ATM):c.3754_3755TA[3]:p.Lys1253fs	coding	Pathogenic
11	108284234	TAT	CA	T108284234C	ATM	NM_001351834.2(ATM):c.3754_3756delinsCA:p.Tyr1252fs	coding	Pathogenic
11	108284234	T	TA	T108284236A	ATM	NM_000051.4(ATM):c.3755dup:p.Tyr1252Ter	coding	Pathogenic
11	108284238	AG	A	G108284240T	ATM	NM_000051.3(ATM):c.3760del:p.Val1254fs	coding	Pathogenic
11	108284240	G	GT	G108284245T	ATM	NM_000051.3(ATM):c.3764dup:p.Leu1255fs	coding	Pathogenic/Likely_pathogenic
11	108284256	TG	T	G108284258T	ATM	NM_000051.4(ATM):c.3778del:p.Leu1259_Val1260insTer	coding	Pathogenic
11	108284259	T	TG	A108284261G	ATM	NM_000051.3(ATM):c.3780dup:p.Ile1261fs	coding	Pathogenic
11	108284261	AT	A	T108284263A	ATM	NM_000051.4(ATM):c.3783del:p.Arg1262fs	coding	Pathogenic
11	108284280	AG	A	G108284282T	ATM	NM_001351834.2(ATM):c.3802del:p.Glu1267_Val1268insTer	coding	Pathogenic
11	108284328	TA	T	A108284330C	ATM	NM_000051.3(ATM):c.3850del:p.Thr1284fs	coding	Pathogenic
11	108284347	GATTCTTGTAAATATTCT	G	A108284348T	ATM	NM_000051.4(ATM):c.3868_3884del:p.Ile1290fs	coding	Pathogenic
11	108284359	T	TA	T108284361A	ATM	NM_000051.3(ATM):c.3880dup:p.Ile1294fs	coding	Pathogenic/Likely_pathogenic
11	108284370	A	AT	G108284375T	ATM	NM_000051.3(ATM):c.3894dup:p.Ala1299fs	coding	Pathogenic
11	108284374	TG	T	G108284375C	ATM	NM_000051.3(ATM):c.3895del:p.Ala1299fs	coding	Pathogenic
11	108284411	CAA	C	A108284413G	ATM	NM_000051.4(ATM):c.3933_3934del:p.Glu1313fs	coding	Pathogenic
11	108284413	AAG	A	G108284419C	ATM	NM_000051.4(ATM):c.3935_3936GA[2]:p.Glu1313fs	coding	Pathogenic/Likely_pathogenic
11	108284414	A	AG	A108284416G	ATM	NM_000051.3(ATM):c.3935dup:p.Glu1313fs	coding	Pathogenic/Likely_pathogenic
11	108284430	AG	A	G108284432T	ATM	NM_000051.3(ATM):c.3952del:p.Val1318fs	coding	Pathogenic
11	108284434	C	CTATG	A108284439T	ATM	NM_000051.3(ATM):c.3955_3958dup:p.Asp1320delinsValTer	coding	Pathogenic
11	108284440	T	TA	T108284442A	ATM	NM_000051.4(ATM):c.3961dup:p.Met1321fs	coding	Pathogenic
11	108287615	AT	A	T108287617A	ATM	NM_000051.3(ATM):c.4011del:p.Ser1338fs	coding	Pathogenic
11	108287621	AATTTACCAGAG	A	T108287625G	ATM	NM_000051.3(ATM):c.4019_4029del:p.Leu1340fs	coding	Pathogenic/Likely_pathogenic
11	108287656	GT	G	T108287658A	ATM	NM_000051.3(ATM):c.4052del:p.Leu1351fs	coding	Pathogenic
11	108287659	ACATGAGCCAG	A	T108287662A	ATM	NM_000051.3(ATM):c.4056_4065del:p.His1352fs	coding	Pathogenic
11	108287687	CAG	C	A108287690C	ATM	NM_001351834.2(ATM):c.4082_4083AG[1]:p.Ser1362fs	coding	Pathogenic/Likely_pathogenic
11	108287692	CA	C	A108287693C	ATM	NM_000051.3(ATM):c.4087del:p.Thr1363fs	coding	Pathogenic
11	108287698	C	CCT	G108287703C	ATM	NM_000051.3(ATM):c.4093_4094CT[3]:p.Cys1366fs	coding	Pathogenic
11	108287701	CTG	C	T108287704A	ATM	NM_000051.4(ATM):c.4096_4097TG[1]:p.Cys1366_Asp1367delinsTer	coding	Pathogenic/Likely_pathogenic
11	108287706	AC	A	C108287707T	ATM	NM_000051.3(ATM):c.4101del:p.Ser1369fs	coding	Pathogenic
11	108287707	CTT	C	T108287710C	ATM	NM_001351834.2(ATM):c.4104_4105del:p.Ser1369fs	coding	Pathogenic/Likely_pathogenic
11	108288975	AG	A	G108288978A	ATM	NM_000051.3(ATM):c.4111delG	noncoding	Pathogenic/Likely_pathogenic
11	108288979	AT	A	T108288982G	ATM	NM_000051.4(ATM):c.4115del:p.Leu1372fs	coding	Pathogenic
11	108289006	A	AT	C108289011T	ATM	NM_001351834.2(ATM):c.4143dup:p.Pro1382fs	coding	Pathogenic
11	108289025	TAAAGCAACATTTGCCTA	C	T108289025C	ATM	NM_000051.4(ATM):c.4158_4175delinsC:p.Lys1387fs	coding	Pathogenic
11	108289055	T	TC	A108289057C	ATM	NM_000051.4(ATM):c.4189dup:p.His1397fs	coding	Pathogenic
11	108289070	AAAA	TTTTAAATGCTTTTT	A108289070T	ATM	NM_000051.4(ATM):c.4203_4206delinsTTTTAAATGCTTTTT:p.Leu1401fs	coding	Pathogenic
11	108289077	AT	A	T108289081A	ATM	NM_000051.4(ATM):c.4214del:p.Ile1404_Leu1405insTer	coding	Pathogenic
11	108289089	CT	C	T108289092C	ATM	NM_000051.4(ATM):c.4225del:p.Ser1409fs	coding	Pathogenic
11	108289092	TC	T	C108289094A	ATM	NM_000051.3(ATM):c.4227del:p.Ser1411fs	coding	Pathogenic
11	108289616	A	AATTCTTCT	T108289625A	ATM	NM_000051.4(ATM):c.4252_4259dup:p.Ala1421fs	coding	Pathogenic
11	108289644	GC	G	C108289645T	ATM	NM_000051.3(ATM):c.4280del:p.Ala1427fs	coding	Pathogenic
11	108289646	TG	T	G108289647A	ATM	NM_000051.4(ATM):c.4282del:p.Glu1428fs	coding	Pathogenic
11	108289668	A	ATT	A108289669T	ATM	NM_000051.4(ATM):c.4303_4304insTT:p.Lys1435fs	coding	Pathogenic
11	108289695	CTGT	TAAAATAAA	C108289695T	ATM	NM_001351834.2(ATM):c.4330_4333delinsTAAAATAAA:p.Leu1444_Phe1445delinsTer	coding	Pathogenic
11	108289697	G	GT	G108289701T	ATM	NM_000051.3(ATM):c.4335dup:p.Val1446fs	coding	Pathogenic
11	108289700	TGTTA	T	A108289704T	ATM	NM_000051.4(ATM):c.4339_4342del:p.Ser1447fs	coding	Pathogenic
11	108289708	TA	GTT	T108289708G	ATM	NM_001351834.2(ATM):c.4343_4344delinsGTT:p.Leu1448fs	coding	Pathogenic
11	108289708	T	TA	T108289710A	ATM	NM_000051.3(ATM):c.4344dup:p.Leu1449fs	coding	Pathogenic
11	108289719	GAT	G	T108289723A	ATM	NM_000051.4(ATM):c.4358_4359del:p.Ile1453fs	coding	Pathogenic/Likely_pathogenic
11	108289723	TAAAAA	T	A108289724G	ATM	NM_000051.3(ATM):c.4359_4363del:p.Ile1453fs	coding	Pathogenic
11	108289723	TA	T	A108289728G	ATM	NM_000051.4(ATM):c.4363del:p.Ser1455fs	coding	Pathogenic
11	108289736	AG	A	G108289738A	ATM	NM_000051.3(ATM):c.4373del:p.Gly1458fs	coding	Pathogenic
11	108289767	GT	A	G108289767A	ATM	NM_000051.3(ATM):c.4402_4403delinsA:p.Val1468fs	coding	Pathogenic
11	108289780	TG	T	G108289781A	ATM	NM_000051.3(ATM):c.4416del:p.Ile1473fs	coding	Pathogenic
11	108292596	G	GT	C108292606T	ATM	NM_000051.3(ATM):c.4437-14dup	noncoding	Benign
11	108292631	CAT	C	A108292632G	ATM	NM_000051.3(ATM):c.4450_4451del:p.Met1484fs	coding	Pathogenic
11	108292632	AT	A	T108292633G	ATM	NM_000051.3(ATM):c.4451del:p.Met1484fs	coding	Pathogenic/Likely_pathogenic
11	108292702	C	CT	A108292705T	ATM	NM_000051.3(ATM):c.4522dup:p.Tyr1508fs	coding	Pathogenic
11	108292722	G	GA	C108292727A	ATM	NM_000051.4(ATM):c.4544dup:p.Asn1515fs	coding	Pathogenic
11	108292732	TTCATG	T	C108292734T	ATM	NM_000051.4(ATM):c.4552_4556del:p.His1518fs	coding	Pathogenic
11	108292757	AC	A	C108292761T	ATM	NM_000051.3(ATM):c.4579del:p.Val1528fs	coding	Pathogenic
11	108292758	C	CT	C108292759T	ATM	NM_000051.4(ATM):c.4576_4577insT:p.Pro1526fs	coding	Pathogenic
11	108293324	G	GT	G108293327T	ATM	NM_000051.3(ATM):c.4625dup:p.Leu1542fs	coding	Pathogenic
11	108293330	ATACT	A	C108293333G	ATM	NM_001351834.2(ATM):c.4632_4635del:p.Lys1543_Tyr1544insTer	coding	Pathogenic
11	108293338	TGATA	T	G108293343A	ATM	NM_000051.4(ATM):c.4638_4641GATA[1]:p.Asp1548fs	coding	Pathogenic
11	108293352	G	GATAATGAAAACCTCTATATC	C108293374T	ATM	NM_000051.4(ATM):c.4653_4672dup:p.Thr1558fs	coding	Pathogenic
11	108293358	GA	G	A108293362C	ATM	NM_000051.3(ATM):c.4661del:p.Asn1554fs	coding	Pathogenic
11	108293364	CT	C	T108293365C	ATM	NM_000051.3(ATM):c.4664del:p.Leu1555fs	coding	Pathogenic/Likely_pathogenic
11	108293369	TA	T	A108293370T	ATM	NM_000051.3(ATM):c.4669del:p.Ile1557fs	coding	Pathogenic
11	108293382	CTTTTAGA	C	T108293384C	ATM	NM_000051.3(ATM):c.4683_4689del:p.Asp1563fs	coding	Pathogenic
11	108293425	G	GT	A108293427T	ATM	NM_000051.3(ATM):c.4725dup:p.Ile1576fs	coding	Pathogenic
11	108293459	A	AC	T108293463C	ATM	NM_000051.4(ATM):c.4761dup:p.Phe1588fs	coding	Pathogenic
11	108293478	GTAATAAAAATTT	G	T108293479C	ATM	NM_000051.3(ATM):c.4776+2_4776+13del	noncoding	Pathogenic/Likely_pathogenic
11	108294946	CAGTA	C	A108294950G	ATM	NM_000051.3(ATM):c.4800_4803del:p.Ser1601fs	coding	Pathogenic
11	108294951	AGT	A	G108294954T	ATM	NM_000051.4(ATM):c.4802_4803GT[1]:p.Val1602fs	coding	Pathogenic
11	108294989	AC	A	C108294990T	ATM	NM_000051.4(ATM):c.4840del:p.Gly1613_Leu1614insTer	coding	Pathogenic
11	108294991	TA	T	A108294994G	ATM	NM_000051.3(ATM):c.4844del:p.Lys1615fs	coding	Pathogenic
11	108294992	A	ACT	A108294993C	ATM	NM_000051.3(ATM):c.4842_4843insCT:p.Lys1615fs	coding	Pathogenic
11	108295012	TG	T	G108295014A	ATM	NM_000051.4(ATM):c.4864del:p.Glu1622fs	coding	Pathogenic
11	108295033	T	TG	T108295036G	ATM	NM_000051.3(ATM):c.4885dup:p.Val1629fs	coding	Pathogenic
11	108295038	G	GACATTATGAGAGC	T108295052A	ATM	NM_000051.3(ATM):c.4889_4901dup:p.Ser1635fs	coding	Pathogenic
11	108295049	AGCTTC	A	G108295050T	ATM	NM_000051.4(ATM):c.4900_4904del:p.Ala1634fs	coding	Pathogenic
11	108297291	TC	T	C108297293G	ATM	NM_000051.4(ATM):c.4916del:p.Pro1639fs	coding	Pathogenic
11	108297304	AT	A	T108297306A	ATM	NM_000051.4(ATM):c.4929del:p.Met1644fs	coding	Pathogenic
11	108297312	GA	G	A108297315C	ATM	NM_000051.3(ATM):c.4938del:p.Lys1646fs	coding	Pathogenic
11	108297335	A	ATAAC	G108297336T	ATM	NM_000051.4(ATM):c.4958_4959insTAAC:p.Gln1653fs	coding	Pathogenic
11	108297363	TG	T	G108297365T	ATM	NM_000051.3(ATM):c.4988del:p.Gly1663fs	coding	Pathogenic
11	108299721	TG	T	G108299723A	ATM	NM_000051.3(ATM):c.5015del:p.Gly1672fs	coding	Pathogenic
11	108299777	AT	A	T108299778A	ATM	NM_000051.4(ATM):c.5070del:p.His1690fs	coding	Pathogenic
11	108299780	G	GTA	A108299783T	ATM	NM_000051.4(ATM):c.5073_5074dup:p.Lys1692fs	coding	Pathogenic
11	108299781	TA	T	A108299784G	ATM	NM_000051.3(ATM):c.5076del:p.Asp1693fs	coding	Pathogenic
11	108299803	GC	G	C108299806T	ATM	NM_000051.3(ATM):c.5098del:p.Lys1701fs	coding	Pathogenic
11	108299806	CTTAAG	C	A108299810T	ATM	NM_000051.3(ATM):c.5102_5106del:p.Lys1701fs	coding	Pathogenic/Likely_pathogenic
11	108299823	TAAAG	T	A108299826C	ATM	NM_000051.4(ATM):c.5118_5121del:p.Lys1706fs	coding	Pathogenic
11	108299857	T	TA	C108299859A	ATM	NM_000051.4(ATM):c.5150dup:p.Tyr1717Ter	coding	Pathogenic
11	108299862	GA	G	A108299864T	ATM	NM_000051.4(ATM):c.5156del:p.Asn1719fs	coding	Pathogenic
11	108299866	AAC	A	A108299871T	ATM	NM_000051.4(ATM):c.5159_5160AC[2]:p.Leu1722fs	coding	Pathogenic/Likely_pathogenic
11	108299869	A	AC	A108299871C	ATM	NM_000051.4(ATM):c.5162dup:p.Leu1722fs	coding	Pathogenic
11	108301651	C	CA	G108301655A	ATM	NM_000051.3(ATM):c.5184dup:p.Val1729fs	coding	Pathogenic
11	108301654	AG	A	G108301655T	ATM	NM_000051.3(ATM):c.5185del:p.Val1729fs	coding	Pathogenic
11	108301670	G	GTA	T108301672A	ATM	NM_000051.3(ATM):c.5201_5202insAT:p.Thr1735fs	coding	Pathogenic
11	108301672	T	TA	C108301674A	ATM	NM_000051.3(ATM):c.5203dup:p.Thr1735fs	coding	Pathogenic
11	108301677	GTT	G	T108301679G	ATM	NM_000051.3(ATM):c.5209_5210del:p.Leu1737fs	coding	Pathogenic/Likely_pathogenic
11	108301680	TGA	GT	T108301680G	ATM	NM_000051.4(ATM):c.5210_5212delinsGT:p.Leu1737fs	coding	Pathogenic
11	108301724	A	ATC	T108301726C	ATM	NM_000051.4(ATM):c.5255_5256insCT:p.Tyr1753fs	coding	Pathogenic
11	108301754	GCCTATCTA	G	C108301756A	ATM	NM_000051.3(ATM):c.5286_5293del:p.Tyr1763fs	coding	Pathogenic
11	108301759	TC	T	C108301760T	ATM	NM_001351834.2(ATM):c.5290del:p.Leu1764fs	coding	Pathogenic/Likely_pathogenic
11	108301782	GA	G	A108301788G	ATM	NM_000051.3(ATM):c.5318del:p.Lys1773fs	coding	Pathogenic
11	108301782	G	GA	G108301789A	ATM	NM_000051.4(ATM):c.5318dup:p.Phe1774fs	coding	Pathogenic
11	108302847	TTCTA	T	T108302848G	ATM	NM_000051.3(ATM):c.5320-5_5320-2del	noncoding	Pathogenic/Likely_pathogenic
11	108302852	GT	G	T108302857A	ATM	NM_000051.4(ATM):c.5324del:p.Phe1774_Leu1775insTer	coding	Pathogenic
11	108302880	GA	G	A108302884C	ATM	NM_000051.3(ATM):c.5351del:p.Asn1784fs	coding	Pathogenic/Likely_pathogenic
11	108302884	ACCCT	A	C108302885T	ATM	NM_000051.3(ATM):c.5352_5355del:p.Pro1785fs	coding	Pathogenic
11	108302926	T	TA	G108302929A	ATM	NM_000051.3(ATM):c.5395dup:p.Ser1799fs	coding	Pathogenic
11	108302928	AG	A	G108302929T	ATM	NM_000051.3(ATM):c.5396del:p.Ser1799fs	coding	Pathogenic
11	108302931	G	GA	T108302936A	ATM	NM_000051.3(ATM):c.5402dup:p.Asn1801fs	coding	Pathogenic
11	108302937	C	CA	T108302939A	ATM	NM_000051.3(ATM):c.5405dup:p.His1802fs	coding	Pathogenic
11	108302948	GA	G	A108302949T	ATM	NM_000051.3(ATM):c.5416del:p.Trp1805_Ile1806insTer	coding	Pathogenic/Likely_pathogenic
11	108302968	C	CT	G108302975T	ATM	NM_000051.3(ATM):c.5441dup:p.Leu1814fs	coding	Pathogenic
11	108302974	TG	T	G108302976A	ATM	NM_000051.3(ATM):c.5443del:p.Asp1815fs	coding	Pathogenic
11	108302975	G	GGACAGTGGAGGCACAAAATGTGAAATTCTTCA	A108303008G	ATM	NM_000051.4(ATM):c.5443_5474dup:p.Leu1826fs	coding	Pathogenic
11	108302989	C	CA	T108302994A	ATM	NM_000051.3(ATM):c.5460dup:p.Cys1821fs	coding	Pathogenic/Likely_pathogenic
11	108304677	GA	G	A108304681C	ATM	NM_000051.4(ATM):c.5503del:p.Thr1835fs	coding	Pathogenic
11	108304686	CTT	C	T108304689G	ATM	NM_001351834.2(ATM):c.5511_5512del:p.Phe1837fs	coding	Pathogenic/Likely_pathogenic
11	108304723	AT	A	T108304727A	ATM	NM_000051.3(ATM):c.5549del:p.Leu1850fs	coding	Pathogenic/Likely_pathogenic
11	108304730	T	TC	A108304733C	ATM	NM_000051.3(ATM):c.5554dup:p.Gln1852fs	coding	Pathogenic
11	108304734	AG	GA	A108304734G	ATM	NM_000051.4(ATM):c.5556_5557delinsGA:p.Asp1853Asn	coding	Benign
11	108304771	CAT	C	A108304772G	ATM	NM_000051.3(ATM):c.5594_5595del:p.His1865fs	coding	Pathogenic
11	108304782	A	AT	C108304788T	ATM	NM_000051.4(ATM):c.5609dup:p.Thr1871fs	coding	Pathogenic
11	108304809	CTCGC	A	C108304809A	ATM	NM_001351834.2(ATM):c.5631_5635delinsA:p.Phe1877fs	coding	Pathogenic
11	108304825	TCCACAACC	T	A108304828T	ATM	NM_000051.4(ATM):c.5650_5657del:p.Thr1884fs	coding	Pathogenic
11	108304825	TC	T	C108304827A	ATM	NM_000051.4(ATM):c.5649del:p.Thr1884fs	coding	Pathogenic
11	108304829	C	CA	C108304832A	ATM	NM_000051.3(ATM):c.5653dup:p.Thr1885fs	coding	Pathogenic
11	108307900	CAG	C	A108307903C	ATM	NM_000051.4(ATM):c.5681_5682del:p.Glu1894fs	coding	Pathogenic
11	108307907	CT	C	T108307912C	ATM	NM_000051.4(ATM):c.5690del:p.Phe1897fs	coding	Pathogenic
11	108307917	T	TG	C108307919G	ATM	NM_000051.4(ATM):c.5696dup:p.Cys1899fs	coding	Pathogenic
11	108307928	T	TA	T108307935A	ATM	NM_000051.3(ATM):c.5712dup:p.Ser1905fs	coding	Pathogenic/Likely_pathogenic
11	108307938	CAAAG	C	A108307941C	ATM	NM_000051.4(ATM):c.5719_5722del:p.Arg1907fs	coding	Pathogenic
11	108307938	CAA	C	A108307940G	ATM	NM_000051.3(ATM):c.5718_5719del:p.Arg1907fs	coding	Pathogenic
11	108307951	TTGCTGTTGTGGACTACA	T	C108307954A	ATM	NM_000051.3(ATM):c.5732_5748del:p.Ala1911fs	coding	Pathogenic
11	108307962	GA	G	A108307963C	ATM	NM_000051.4(ATM):c.5741del:p.Asp1914fs	coding	Pathogenic
11	108307977	CAAAAG	C	A108307979G	ATM	NM_000051.3(ATM):c.5757_5761del:p.Lys1920fs	coding	Pathogenic
11	108307977	CAA	C	A108307980G	ATM	NM_000051.3(ATM):c.5758_5759del:p.Lys1920fs	coding	Pathogenic
11	108307980	AAG	A	A108307983G	ATM	NM_001351834.2(ATM):c.5760_5761GA[1]:p.Arg1921fs	coding	Pathogenic
11	108310160	AC	A	C108310162T	ATM	NM_001330368.2(C11orf65):c.641-1090del	coding	Pathogenic
11	108310176	A	AT	A108310182T	ATM	NM_001330368.2(C11orf65):c.641-1110dup	coding	Pathogenic
11	108310188	G	CCT	G108310188C	ATM	NM_001330368.2(C11orf65):c.641-1117delinsAGG	coding	Pathogenic/Likely_pathogenic
11	108310188	GCT	CCTC	G108310188C	ATM	NM_001330368.2(C11orf65):c.641-1119_641-1117delinsGAGG	coding	Pathogenic
11	108310202	TTTAAATTATC	ATT	T108310202A	ATM	NM_000051.3(ATM):c.5805_5815delinsATT:p.Asp1935fs	coding	Pathogenic
11	108310232	TCA	T	C108310233G	ATM	NM_000051.4(ATM):c.5836_5837del:p.Gln1946fs	coding	Pathogenic
11	108310249	AC	A	C108310250T	ATM	NM_000051.3(ATM):c.5853del:p.Phe1952fs	coding	Pathogenic
11	108310265	CTA	C	A108310267G	ATM	NM_001330368.2(C11orf65):c.641-1196_641-1195del	coding	Pathogenic
11	108310286	TAAGAA	T	A108310290T	ATM	NM_001330368.2(C11orf65):c.641-1220_641-1216del	coding	Pathogenic
11	108310290	A	AAAAGTAT	G108310298A	ATM	NM_000051.3(ATM):c.5894_5900dup:p.Met1967fs	coding	Pathogenic/Likely_pathogenic
11	108310305	CA	C	A108310307G	ATM	NM_000051.3(ATM):c.5910del:p.Glu1971fs	coding	Pathogenic/Likely_pathogenic
11	108310310	GAA	G	A108310313G	ATM	NM_000051.4(ATM):c.5916_5917del:p.Arg1973fs	coding	Pathogenic
11	108312420	AT	A	T108312423G	ATM	NM_000051.3(ATM):c.5931del:p.Phe1977fs	coding	Pathogenic
11	108312448	A	AT	C108312452T	ATM	NM_001330368.2(C11orf65):c.641-3380dup	coding	Pathogenic
11	108312462	T	TG	A108312464G	ATM	NM_001330368.2(C11orf65):c.641-3392dup	coding	Pathogenic
11	108312466	AAAAGT	A	T108312471A	ATM	NM_000051.3(ATM):c.5979_5983del:p.Ser1993fs	coding	Pathogenic
11	108312471	TA	T	A108312474G	ATM	NM_000051.3(ATM):c.5982del:p.Glu1995fs	coding	Pathogenic/Likely_pathogenic
11	108312471	T	TA	G108312475A	ATM	NM_000051.3(ATM):c.5982dup:p.Glu1995fs	coding	Pathogenic
11	108312482	CT	C	T108312483G	ATM	NM_000051.4(ATM):c.5991del:p.Gly1998fs	coding	Pathogenic
11	108312483	T	TGG	A108312486G	ATM	NM_000051.4(ATM):c.5992_5993dup:p.Ile1999fs	coding	Pathogenic
11	108312484	GG	TA	G108312484T	ATM	NM_000051.4(ATM):c.5992_5993delinsTA:p.Gly1998Ter	coding	Pathogenic
11	108315819	T	TCAGGATCTTCTCTTAGAAATCTA	A108315846G	ATM	NM_000051.3(ATM):c.6007_6029dup	noncoding	Pathogenic
11	108315821	A	AG	A108315824G	ATM	NM_001330368.2(C11orf65):c.641-6752dup	noncoding	Pathogenic/Likely_pathogenic
11	108315829	C	AA	C108315829A	ATM	NM_000051.3(ATM):c.6013delinsAA:p.Leu2005fs	coding	Pathogenic/Likely_pathogenic
11	108315830	T	TC	T108315832C	ATM	NM_000051.3(ATM):c.6015dup:p.Glu2007fs	coding	Pathogenic
11	108315860	CAG	TTATACTTCTCTTAGAAATCTACAGAAGT	C108315860T	ATM	NM_001330368.2(C11orf65):c.641-6791_641-6789delinsACTTCTGTAGATTTCTAAGAGAAGTATAA	coding	Pathogenic
11	108315863	ATAGT	A	A108315865T	ATM	NM_001330368.2(C11orf65):c.641-6796_641-6793del	coding	Pathogenic
11	108315864	T	TA	G108315866A	ATM	NM_001330368.2(C11orf65):c.641-6794dup	coding	Pathogenic
11	108315873	TG	T	G108315875C	ATM	NM_001330368.2(C11orf65):c.641-6803del	coding	Pathogenic
11	108315894	GT	G	T108315896A	ATM	NM_000051.3(ATM):c.6080del:p.Leu2027fs	coding	Pathogenic
11	108315897	AC	A	C108315898A	ATM	NM_000051.3(ATM):c.6082del:p.Gln2028fs	coding	Pathogenic/Likely_pathogenic
11	108315904	A	AT	A108315907T	ATM	NM_000051.3(ATM):c.6090dup:p.Thr2031fs	coding	Pathogenic
11	108316039	T	TG	C108316044G	ATM	NM_000051.4(ATM):c.6128dup:p.Lys2044fs	coding	Pathogenic
11	108316047	AG	A	G108316048C	ATM	NM_001330368.2(C11orf65):c.641-6977del	coding	Pathogenic
11	108316051	CTAGTAACA	C	G108316054T	ATM	NM_000051.4(ATM):c.6139_6146del:p.Leu2046_Val2047insTer	coding	Pathogenic
11	108316058	CAT	C	A108316061G	ATM	NM_000051.4(ATM):c.6144_6145AT[1]:p.Thr2048_Tyr2049insTer	coding	Pathogenic
11	108316060	T	TA	T108316062A	ATM	NM_000051.4(ATM):c.6146dup:p.Tyr2049Ter	coding	Pathogenic
11	108316078	ATC	A	T108316079C	ATM	NM_000051.4(ATM):c.6164_6165del:p.Ile2055fs	coding	Pathogenic
11	108316091	C	CA	C108316093A	ATM	NM_000051.3(ATM):c.6177dup:p.Arg2060fs	coding	Pathogenic
11	108317386	TG	T	G108317389A	ATM	NM_000051.4(ATM):c.6215del:p.Gly2072fs	coding	Pathogenic
11	108317400	AT	A	T108317402C	ATM	NM_001330368.2(C11orf65):c.641-8330del	coding	Pathogenic
11	108317409	GTC	G	C108317411A	ATM	NM_000051.3(ATM):c.6237_6238del:p.Tyr2080fs	coding	Pathogenic
11	108317411	CTA	C	A108317413T	ATM	NM_001330368.2(C11orf65):c.641-8342_641-8341del	coding	Pathogenic
11	108317413	AT	A	T108317416A	ATM	NM_000051.4(ATM):c.6242del:p.Tyr2080_Leu2081insTer	coding	Pathogenic
11	108317433	G	GA	T108317438A	ATM	NM_000051.4(ATM):c.6263dup:p.Asn2088fs	coding	Pathogenic
11	108317444	C	TT	C108317444T	ATM	NM_001330368.2(C11orf65):c.641-8373delinsAA	coding	Pathogenic
11	108317445	TG	T	G108317447T	ATM	NM_001330368.2(C11orf65):c.641-8375del	coding	Pathogenic
11	108317453	TG	T	G108317454A	ATM	NM_001330368.2(C11orf65):c.641-8383del	coding	Pathogenic
11	108317498	G	GT	G108317500T	ATM	NM_000051.3(ATM):c.6325dup:p.Trp2109fs	coding	Pathogenic/Likely_pathogenic
11	108317539	AT	A	T108317552G	ATM	NM_000051.3(ATM):c.6347+31del	noncoding	Benign/Likely_benign
11	108319957	AG	A	G108319958A	ATM	NM_000051.3(ATM):c.6352del:p.Glu2118fs	coding	Pathogenic/Likely_pathogenic
11	108319974	GTT	G	T108319975A	ATM	NM_001330368.2(C11orf65):c.641-10905_641-10904del	coding	Pathogenic
11	108319977	A	AG	C108319978G	ATM	NM_000051.4(ATM):c.6371_6372insG:p.Tyr2124Ter	coding	Pathogenic
11	108319977	AC	A	C108319979A	ATM	NM_001330368.2(C11orf65):c.641-10907del	coding	Pathogenic
11	108319987	A	AT	G108319990T	ATM	NM_000051.4(ATM):c.6383dup:p.Leu2128fs	coding	Pathogenic
11	108320003	CA	C	A108320005T	ATM	NM_001330368.2(C11orf65):c.641-10933del	coding	Pathogenic
11	108320003	C	CA	T108320006A	ATM	NM_001330368.2(C11orf65):c.641-10934dup	coding	Pathogenic
11	108320005	ATC	A	C108320009A	ATM	NM_000051.4(ATM):c.6401_6402CT[1]:p.Leu2135fs	coding	Pathogenic
11	108320009	C	CCT	T108320010C	ATM	NM_000051.3(ATM):c.6403_6404insCT:p.Leu2135fs	coding	Pathogenic
11	108320009	C	CT	A108320011T	ATM	NM_001330368.2(C11orf65):c.641-10939dup	coding	Pathogenic
11	108320009	C	CTT	A108320011T	ATM	NM_000051.3(ATM):c.6404_6405insTT:p.Leu2135_Arg2136insTer	coding	Pathogenic/Likely_pathogenic
11	108320017	CAG	C	G108320021A	ATM	NM_000051.4(ATM):c.6413_6414GA[1]:p.Glu2139fs	coding	Pathogenic
11	108320029	TACATTTTATGA	T	C108320031A	ATM	NM_000051.4(ATM):c.6425_6435del:p.Thr2142fs	coding	Pathogenic
11	108320036	TATGAAAGTCTCAA	T	G108320039A	ATM	NM_001330368.2(C11orf65):c.641-10978_641-10966del	coding	Pathogenic
11	108320039	GAA	G	A108320041G	ATM	NM_001330368.2(C11orf65):c.641-10970_641-10969del	coding	Pathogenic
11	108320039	G	GA	G108320043A	ATM	NM_001330368.2(C11orf65):c.641-10971dup	coding	Pathogenic
11	108320047	C	CA	T108320051A	ATM	NM_000051.3(ATM):c.6444dup:p.Tyr2149fs	coding	Pathogenic
11	108321309	A	AAGTGGAAGAGATGTGT	A108321327G	ATM	NM_001330368.2(C11orf65):c.641-12254_641-12239dup	coding	Pathogenic
11	108321342	CTG	C	G108321346A	ATM	NM_001330368.2(C11orf65):c.641-12273_641-12272del	coding	Pathogenic
11	108321368	AGCAGGTT	A	T108321374C	ATM	NM_000051.4(ATM):c.6526_6532del:p.Leu2176fs	coding	Pathogenic
11	108321370	C	CA	G108321372A	ATM	NM_001330368.2(C11orf65):c.641-12300dup	coding	Pathogenic
11	108321401	A	AT	G108321404T	ATM	NM_001330368.2(C11orf65):c.641-12332dup	coding	Pathogenic
11	108325267	TTC	T	T108325268A	ATM	NM_000051.3(ATM):c.6573-42_6573-41del	noncoding	Benign
11	108325268	TCA	T	C108325269T	ATM	NM_000051.3(ATM):c.6573-41_6573-40del	noncoding	Benign
11	108325268	TC	T	C108325269A	ATM	NM_000051.3(ATM):c.6573-41del	noncoding	Benign/Likely_benign
11	108325270	A	ATTTTTT	C108325274T	ATM	NM_000051.3(ATM):c.6573-37_6573-36insTTTTTT	noncoding	Benign
11	108325278	TGC	T	G108325279T	ATM	NM_000051.3(ATM):c.6573-31_6573-30del	noncoding	Benign
11	108325320	CAT	C	T108325322G	ATM	NM_000051.3(ATM):c.6585_6586del:p.His2195fs	coding	Pathogenic
11	108325365	CA	C	A108325366G	ATM	NM_000051.4(ATM):c.6629del:p.Gln2210fs	coding	Pathogenic
11	108325379	C	GA	C108325379G	ATM	NM_000051.4(ATM):c.6642delinsGA:p.Asp2214fs	coding	Pathogenic
11	108325384	ATTTTAGTT	A	T108325387C	ATM	NM_001330368.2(C11orf65):c.641-16321_641-16314del	coding	Pathogenic
11	108325390	GT	G	T108325394C	ATM	NM_001330368.2(C11orf65):c.641-16320del	coding	Pathogenic
11	108325402	CTATCATGGCTCTAC	G	C108325402G	ATM	NM_000051.4(ATM):c.6665_6679delinsG:p.Pro2222fs	coding	Pathogenic
11	108325403	TA	T	A108325404T	ATM	NM_001330368.2(C11orf65):c.641-16333del	coding	Pathogenic
11	108325408	T	TG	C108325411G	ATM	NM_001330368.2(C11orf65):c.641-16339dup	coding	Pathogenic
11	108325417	GCA	G	C108325420G	ATM	NM_001330368.2(C11orf65):c.641-16348_641-16347del	coding	Pathogenic
11	108325435	TC	T	C108325437T	ATM	NM_000051.4(ATM):c.6700del:p.Ile2233_Leu2234insTer	coding	Pathogenic
11	108325446	AAG	A	A108325447G	ATM	NM_000051.4(ATM):c.6710_6711del:p.Lys2237fs	coding	Pathogenic
11	108325461	TC	T	C108325462A	ATM	NM_001330368.2(C11orf65):c.641-16391del	coding	Pathogenic
11	108325464	CAA	C	A108325466G	ATM	NM_001330368.2(C11orf65):c.641-16395_641-16394del	coding	Pathogenic
11	108325478	T	TA	G108325481A	ATM	NM_000051.4(ATM):c.6743dup:p.Asp2249fs	coding	Pathogenic
11	108325484	C	CA	T108325486A	ATM	NM_001330368.2(C11orf65):c.641-16414dup	coding	Pathogenic
11	108325487	T	TCTCA	C108325493T	ATM	NM_001330368.2(C11orf65):c.641-16420_641-16417dup	coding	Pathogenic
11	108325490	CA	C	A108325491C	ATM	NM_001330368.2(C11orf65):c.641-16420del	coding	Pathogenic
11	108325508	ACT	A	C108325513A	ATM	NM_000051.4(ATM):c.6772_6773CT[2]:p.Ser2259fs	coding	Pathogenic
11	108325534	AG	C	A108325534C	ATM	NM_000051.3(ATM):c.6797_6798delinsC:p.Lys2266fs	coding	Pathogenic
11	108325985	CATT	C	A108325998C	ATM	NM_000051.3(ATM):c.6808-72ATT[4]	noncoding	Benign
11	108326064	G	CA	G108326064C	ATM	NM_001330368.2(C11orf65):c.641-16993delinsTG	coding	Pathogenic
11	108326088	CA	C	A108326089G	ATM	NM_000051.3(ATM):c.6839del:p.Gln2280fs	coding	Pathogenic
11	108326092	AC	A	C108326093A	ATM	NM_001330368.2(C11orf65):c.641-17022del	coding	Pathogenic
11	108326099	AG	A	G108326100T	ATM	NM_000051.3(ATM):c.6850del:p.Val2284fs	coding	Pathogenic/Likely_pathogenic
11	108326112	GT	G	T108326113C	ATM	NM_000051.4(ATM):c.6863del:p.Val2288fs	coding	Pathogenic
11	108326116	C	CT	G108326118T	ATM	NM_001330368.2(C11orf65):c.641-17046dup	coding	Pathogenic
11	108326116	C	CTG	A108326119T	ATM	NM_000051.4(ATM):c.6867_6868dup:p.Glu2290fs	coding	Pathogenic
11	108326152	C	CA	G108326159A	ATM	NM_000051.3(ATM):c.6908dup:p.Glu2304fs	coding	Pathogenic
11	108326158	AG	A	G108326160A	ATM	NM_001330368.2(C11orf65):c.641-17088del	coding	Pathogenic
11	108326163	CAG	C	A108326166T	ATM	NM_000051.4(ATM):c.6914_6915AG[1]:p.Leu2307fs	coding	Pathogenic
11	108326168	TCTTG	T	T108326170C	ATM	NM_001330368.2(C11orf65):c.641-17101_641-17098del	coding	Pathogenic
11	108326176	TGA	T	A108326178T	ATM	NM_000051.4(ATM):c.6928_6929del:p.Ser2310fs	coding	Pathogenic
11	108326230	G	GT	A108326239T	ATM	NM_000051.3(ATM):c.6975+13dup	noncoding	Benign/Likely_benign
11	108326230	GT	G	T108326238A	ATM	NM_000051.3(ATM):c.6975+13del	noncoding	Benign/Likely_benign
11	108327633	TTTCTTATACAGAACAATCCCAGCC	T	T108327635A	ATM	NM_000051.3(ATM):c.6976-10_6989del	noncoding	Pathogenic/Likely_pathogenic
11	108327664	TTACA	T	T108327669C	ATM	NM_000051.4(ATM):c.7000_7003del:p.Tyr2334fs	coding	Pathogenic/Likely_pathogenic
11	108327665	T	TA	C108327667A	ATM	NM_001330368.2(C11orf65):c.641-18595dup	coding	Pathogenic/Likely_pathogenic
11	108327677	ATG	A	G108327679C	ATM	NM_001330368.2(C11orf65):c.641-18608_641-18607del	coding	Pathogenic
11	108327678	T	TGTCTGAGGGTTTGTGGCAACTGGTTAGCAGAAACGTGCTTAGAAAATCCTGCGGTC	A108327735G	ATM	NM_001330368.2(C11orf65):c.641-18663_641-18608dup	coding	Pathogenic
11	108327681	CTG	C	T108327682A	ATM	NM_000051.4(ATM):c.7013_7014del:p.Leu2338fs	coding	Pathogenic
11	108327694	G	GC	A108327696C	ATM	NM_001330368.2(C11orf65):c.641-18624dup	coding	Pathogenic
11	108327695	CA	C	A108327697C	ATM	NM_000051.4(ATM):c.7028del:p.Asn2343fs	coding	Pathogenic
11	108327711	ACGTG	A	G108327713T	ATM	NM_001330368.2(C11orf65):c.641-18644_641-18641del	coding	Pathogenic
11	108327732	GTCATCATGCAGACCTA	G	A108327735T	ATM	NM_000051.3(ATM):c.7066_7081del:p.Val2355_Ile2356insTer	coding	Pathogenic/Likely_pathogenic
11	108327753	GA	G	A108327757G	ATM	NM_000051.3(ATM):c.7088del:p.Lys2363fs	coding	Pathogenic
11	108327756	AAGGTAAGATTTTTGGAGCAACCCTTAAGATAGTTACTT	A	G108327759C	ATM	NM_000051.4(ATM):c.7089+1_7089+38del	coding	Pathogenic
11	108329021	GC	G	C108329022A	ATM	NM_001330368.2(C11orf65):c.641-19951del	coding	Pathogenic
11	108329071	AAATGGAAAAAT	A	A108329072G	ATM	NM_000051.3(ATM):c.7141_7151del:p.Asn2381fs	coding	Pathogenic/Likely_pathogenic
11	108329090	T	TAGCC	T108329091A	ATM	NM_000051.3(ATM):c.7159_7160insAGCC:p.Phe2387Ter	coding	Pathogenic
11	108329091	TTCTC	T	T108329094A	ATM	NM_000051.4(ATM):c.7163_7166del:p.Leu2388fs	coding	Pathogenic
11	108329116	TA	T	A108329117C	ATM	NM_001330368.2(C11orf65):c.641-20046del	coding	Pathogenic
11	108329166	ACAAG	A	A108329172T	ATM	NM_001330368.2(C11orf65):c.641-20099_641-20096del	coding	Pathogenic/Likely_pathogenic
11	108329181	T	TGAA	A108329185G	ATM	NM_001330368.2(C11orf65):c.641-20113_641-20111dup	coding	Pathogenic
11	108329191	CAA	C	A108329193G	ATM	NM_001330368.2(C11orf65):c.641-20122_641-20121del	coding	Pathogenic
11	108329192	A	AT	A108329193T	ATM	NM_000051.3(ATM):c.7261_7262insT:p.Lys2421fs	coding	Pathogenic
11	108329198	GAAG	TAC	G108329198T	ATM	NM_000051.3(ATM):c.7267_7270delinsTAC:p.Glu2423fs	coding	Pathogenic
11	108329203	AG	A	G108329205T	ATM	NM_001330368.2(C11orf65):c.641-20133del	coding	Pathogenic
11	108329209	CCTTAGG	C	C108329210G	ATM	NM_001330368.2(C11orf65):c.641-20144_641-20139del	coding	Pathogenic
11	108329221	TAA	T	A108329224T	ATM	NM_000051.3(ATM):c.7293_7294del:p.Lys2431fs	coding	Pathogenic
11	108329227	TCAGA	T	G108329230A	ATM	NM_001330368.2(C11orf65):c.641-20160_641-20157del	coding	Pathogenic/Likely_pathogenic
11	108330215	T	TAC	G108330221C	ATM	NM_000051.4(ATM):c.7311_7312CA[3]:p.Val2439fs	coding	Pathogenic
11	108330238	GC	G	C108330239T	ATM	NM_000051.4(ATM):c.7333del:p.Leu2445fs	coding	Pathogenic
11	108330261	T	TG	C108330263G	ATM	NM_000051.4(ATM):c.7356dup:p.Arg2453fs	coding	Pathogenic
11	108330264	GTGCACTGAAAGAGGATCGTAAACGC	TAA	G108330264T	ATM	NM_000051.4(ATM):c.7358_7383delinsTAA:p.Arg2453fs	coding	Pathogenic
11	108330273	AAG	A	A108330276G	ATM	NM_000051.4(ATM):c.7368_7369AG[1]:p.Glu2457fs	coding	Pathogenic
11	108330281	CG	C	G108330282T	ATM	NM_000051.4(ATM):c.7376del:p.Arg2459fs	coding	Pathogenic
11	108330308	G	GA	T108330313A	ATM	NM_000051.4(ATM):c.7406dup:p.Asn2469fs	coding	Pathogenic
11	108330322	CT	C	T108330323G	ATM	NM_000051.4(ATM):c.7417del:p.Cys2473fs	coding	Pathogenic
11	108330370	TTC	T	T108330371C	ATM	NM_001330368.2(C11orf65):c.641-21301_641-21300del	coding	Pathogenic
11	108330374	C	CT	C108330376T	ATM	NM_001330368.2(C11orf65):c.641-21304dup	coding	Pathogenic
11	108330395	GT	G	T108330398C	ATM	NM_000051.4(ATM):c.7492del:p.Ser2498fs	coding	Pathogenic
11	108330409	TGGCATGA	T	G108330410T	ATM	NM_000051.4(ATM):c.7504_7510del:p.Asn2501_Gly2502insTer	coding	Pathogenic
11	108330415	G	GA	T108330417A	ATM	NM_001330368.2(C11orf65):c.641-21345dup	coding	Pathogenic
11	108331427	C	CT	A108331436T	ATM	NM_000051.3(ATM):c.7516-9dup	noncoding	Benign/Likely_benign
11	108331441	TAG	T	G108331447C	ATM	NM_001330368.2(C11orf65):c.641-22376CT[2]	noncoding	Pathogenic/Likely_pathogenic
11	108331466	CAT	C	T108331470A	ATM	NM_000051.4(ATM):c.7540_7541TA[1]:p.Tyr2514_Lys2515delinsTer	coding	Pathogenic
11	108331477	TTGCCTCTTATGTA	ATG	T108331477A	ATM	NM_000051.3(ATM):c.7549_7562delinsATG:p.Leu2517fs	coding	Pathogenic
11	108331525	G	GGA	G108331529A	ATM	NM_001330368.2(C11orf65):c.641-22456_641-22455dup	coding	Pathogenic
11	108331535	GA	G	A108331536T	ATM	NM_001330368.2(C11orf65):c.641-22465del	coding	Pathogenic
11	108331553	ATAATG	A	T108331557G	ATM	NM_000051.3(ATM):c.7629_7629+4del	coding	Pathogenic/Likely_pathogenic
11	108331879	CT	C	T108331880A	ATM	NM_001330368.2(C11orf65):c.641-22809del	coding	Pathogenic
11	108331884	CTCTAGAATT	C	T108331887A	ATM	NM_001330368.2(C11orf65):c.641-22822_641-22814del	coding	Pathogenic/Likely_pathogenic
11	108331903	C	CAG	C108331905G	ATM	NM_000051.3(ATM):c.7655_7656insGA:p.His2552fs	coding	Pathogenic
11	108331904	AC	A	C108331909A	ATM	NM_000051.4(ATM):c.7660del:p.His2554fs	coding	Pathogenic
11	108331914	C	GTGA	C108331914G	ATM	NM_001330368.2(C11orf65):c.641-22843delinsTCAC	coding	Pathogenic
11	108331916	CTT	C	T108331918G	ATM	NM_001330368.2(C11orf65):c.641-22847_641-22846del	coding	Pathogenic
11	108331916	CTTTG	C	G108331920A	ATM	NM_000051.3(ATM):c.7671_7674del:p.Phe2558fs	coding	Pathogenic
11	108331940	C	CA	T108331944A	ATM	NM_000051.4(ATM):c.7694dup:p.Asn2565fs	coding	Pathogenic
11	108331945	GCAAA	G	A108331948G	ATM	NM_000051.3(ATM):c.7699_7702del:p.Asn2567fs	coding	Pathogenic/Likely_pathogenic
11	108331948	AAC	A	C108331950G	ATM	NM_001330368.2(C11orf65):c.641-22879_641-22878del	coding	Pathogenic
11	108331950	CAG	C	G108331954T	ATM	NM_001330368.2(C11orf65):c.641-22881_641-22880del	coding	Pathogenic/Likely_pathogenic
11	108331954	GA	G	A108331955T	ATM	NM_000051.4(ATM):c.7706del:p.Asp2569fs	coding	Pathogenic
11	108331976	AG	A	G108331978T	ATM	NM_000051.4(ATM):c.7729del:p.Glu2576_Val2577insTer	coding	Pathogenic
11	108331996	ATAAC	A	C108332000A	ATM	NM_000051.4(ATM):c.7751_7754del:p.Thr2584fs	coding	Pathogenic
11	108332012	C	CT	A108332014T	ATM	NM_000051.3(ATM):c.7764dup:p.Lys2589Ter	coding	Pathogenic
11	108332013	TA	T	A108332016C	ATM	NM_001330368.2(C11orf65):c.641-22943del	coding	Pathogenic/Likely_pathogenic
11	108332764	TC	T	C108332765G	ATM	NM_001330368.2(C11orf65):c.641-23694del	coding	Pathogenic
11	108332800	CAG	C	G108332802A	ATM	NM_000051.4(ATM):c.7829_7830del:p.Arg2610fs	coding	Pathogenic
11	108332803	AAGTAG	A	A108332804G	ATM	NM_000051.4(ATM):c.7831_7835del:p.Ser2611fs	coding	Pathogenic
11	108332806	TA	T	A108332807G	ATM	NM_000051.4(ATM):c.7834del:p.Arg2612fs	coding	Pathogenic
11	108332808	G	GGA	C108332813G	ATM	NM_000051.4(ATM):c.7836_7837GA[3]:p.Pro2614fs	coding	Pathogenic/Likely_pathogenic
11	108332830	TG	T	G108332831T	ATM	NM_001330368.2(C11orf65):c.641-23760del	coding	Pathogenic/Likely_pathogenic
11	108332848	TG	GC	T108332848G	ATM	NM_000051.4(ATM):c.7875_7876delinsGC:p.Asp2625_Ala2626delinsGluPro	coding	Pathogenic/Likely_pathogenic
11	108332850	CTTATA	C	T108332859G	ATM	NM_000051.4(ATM):c.7881_7885TATTA[1]:p.Ile2629fs	coding	Pathogenic/Likely_pathogenic
11	108332852	TA	T	A108332853T	ATM	NM_000051.3(ATM):c.7880del:p.Tyr2627fs	coding	Pathogenic/Likely_pathogenic
11	108332887	G	GT	A108332888T	ATM	NM_000051.4(ATM):c.7914_7915insT:p.Lys2639Ter	coding	Pathogenic
11	108332905	G	GT	A108332914T	ATM	NM_000051.3(ATM):c.7927+13dup	noncoding	Benign/Likely_benign
11	108333935	AG	A	G108333936A	ATM	NM_001330368.2(C11orf65):c.641-24865del	coding	Pathogenic
11	108333945	GTTGT	G	T108333946C	ATM	NM_001330368.2(C11orf65):c.641-24878_641-24875del	coding	Pathogenic
11	108333955	C	CT	A108333957T	ATM	NM_000051.3(ATM):c.7998dup:p.Met2667fs	coding	Pathogenic/Likely_pathogenic
11	108333990	A	AT	A108333999T	ATM	NM_000051.3(ATM):c.8010+30dup	noncoding	Benign
11	108334988	A	GTG	A108334988G	ATM	NM_000051.4(ATM):c.8030delinsGTG:p.Tyr2677fs	coding	Pathogenic
11	108334992	AAATCTGGTGACTATAC	A	A108334994G	ATM	NM_000051.3(ATM):c.8036_8051del:p.Asn2679fs	coding	Pathogenic
11	108335000	T	TG	A108335002G	ATM	NM_000051.4(ATM):c.8043dup:p.Thr2682fs	coding	Pathogenic
11	108335003	CTA	C	T108335006C	ATM	NM_001330368.2(C11orf65):c.641-25934_641-25933del	coding	Pathogenic
11	108335004	T	TA	T108335006A	ATM	NM_000051.4(ATM):c.8047dup:p.Ile2683fs	coding	Pathogenic
11	108335006	TAC	T	C108335008G	ATM	NM_000051.4(ATM):c.8050_8051del:p.Gln2684fs	coding	Pathogenic
11	108335007	ACAGT	A	G108335010T	ATM	NM_000051.4(ATM):c.8052_8055del:p.Gln2684fs	coding	Pathogenic
11	108335008	C	CA	G108335010A	ATM	NM_000051.4(ATM):c.8051dup:p.Ser2685fs	coding	Pathogenic
11	108335060	TAA	T	A108335061T	ATM	NM_000051.3(ATM):c.8103_8104del:p.Ile2702fs	coding	Pathogenic/Likely_pathogenic
11	108335084	GC	G	C108335085A	ATM	NM_000051.3(ATM):c.8127del:p.Lys2710fs	coding	Pathogenic
11	108335095	A	AC	G108335096C	ATM;C11orf65	NM_000051.4(ATM):c.8137_8138insC:p.Arg2713fs	coding	Pathogenic
11	108335885	TCT	CC	T108335885C	ATM	NM_000051.4(ATM):c.8192_8194delinsCC:p.Val2731fs	coding	Pathogenic
11	108335893	A	ATG	A108335899G	ATM	NM_001330368.2(C11orf65):c.641-26826CA[3]	coding	Pathogenic
11	108335898	T	TAA	T108335901A	ATM	NM_001330368.2(C11orf65):c.641-26829_641-26828dup	coding	Pathogenic
11	108335904	A	ATTACTGCAGAGAAACACGGAAACTAGGAAGAGGAAAT	A108335943T	ATM	NM_000051.4(ATM):c.8213_8249dup:p.Leu2750delinsPheThrAlaGluLysHisGlyAsnTer	coding	Pathogenic
11	108335915	GAA	G	A108335917C	ATM	NM_000051.3(ATM):c.8224_8225del:p.Asn2742fs	coding	Pathogenic
11	108335931	G	GA	G108335934A	ATM	NM_000051.4(ATM):c.8240dup:p.Arg2748fs	coding	Pathogenic
11	108335940	A	AT	A108335943T	ATM	NM_001330368.2(C11orf65):c.641-26871dup	coding	Pathogenic
11	108335940	AT	A	T108335942A	ATM	NM_000051.4(ATM):c.8249del:p.Lys2749_Leu2750insTer	coding	Pathogenic
11	108335941	TTAAC	T	A108335944T	ATM	NM_001330368.2(C11orf65):c.641-26874_641-26871del	coding	Pathogenic
11	108335950	TG	T	G108335951T	ATM	NM_000051.4(ATM):c.8258del:p.Cys2753fs	coding	Pathogenic
11	108335956	TATAAG	T	A108335957G	ATM	NM_001330368.2(C11orf65):c.641-26890_641-26886del	coding	Pathogenic
11	108343220	AG	A	G108343222T	ATM	NM_000051.3(ATM):c.8269delG	noncoding	Pathogenic
11	108343227	TC	T	C108343231T	ATM	NM_000051.4(ATM):c.8278del:p.Leu2760fs	coding	Pathogenic
11	108343230	CCT	C	T108343236A	ATM	NM_001330368.2(C11orf65):c.641-34165AG[2]	coding	Pathogenic
11	108343230	CCTCT	C	T108343234A	ATM	NM_001330368.2(C11orf65):c.641-34163_641-34160del	coding	Pathogenic
11	108343240	CG	C	G108343241A	ATM	NM_001330368.2(C11orf65):c.641-34170del	coding	Pathogenic/Likely_pathogenic
11	108343243	AGT	A	T108343245G	ATM	NM_000051.3(ATM):c.8292_8293del:p.Ser2764fs	coding	Pathogenic/Likely_pathogenic
11	108343254	TGAATGGTGCACAG	T	T108343258C	ATM	NM_001330368.2(C11orf65):c.641-34196_641-34184del	coding	Pathogenic
11	108343270	A	ACTGTC	C108343277T	ATM	NM_000051.3(ATM):c.8319_8323dup:p.Pro2775fs	coding	Pathogenic
11	108343274	TC	A	T108343274A	ATM	NM_001330368.2(C11orf65):c.641-34204_641-34203delinsT	coding	Pathogenic
11	108343274	TC	T	C108343278A	ATM	NM_000051.3(ATM):c.8325del:p.Ile2776fs	coding	Pathogenic
11	108343280	TTG	T	T108343281G	ATM	NM_001330368.2(C11orf65):c.641-34211_641-34210del	coding	Pathogenic
11	108343320	A	TT	A108343320T	ATM	NM_001330368.2(C11orf65):c.641-34249delinsAA	coding	Pathogenic
11	108343322	GATAC	G	T108343324G	ATM	NM_001330368.2(C11orf65):c.641-34255_641-34252del	coding	Pathogenic/Likely_pathogenic
11	108343337	ATTTCAGTGCC	A	T108343348A	ATM	NM_000051.4(ATM):c.8385_8394TTTCAGTGCC[1]:p.Phe2799fs	coding	Pathogenic/Likely_pathogenic
11	108343347	CT	C	T108343350C	ATM	NM_001330368.2(C11orf65):c.641-34277del	coding	Pathogenic
11	108343357	CA	C	A108343361G	ATM	NM_001330368.2(C11orf65):c.641-34287del	coding	Pathogenic
11	108343366	AT	A	T108343367G	ATM	NM_000051.4(ATM):c.8414del:p.Met2805fs	coding	Pathogenic
11	108343371	GGTGA	G	G108343376C	ATM	NM_000051.3(ATM):c.8418+5_8418+8del	coding	Pathogenic
11	108345749	CAA	C	A108345755G	ATM	NM_000051.4(ATM):c.8431_8432del:p.Lys2811fs	coding	Pathogenic
11	108345749	CA	C	A108345756G	ATM	NM_000051.3(ATM):c.8432del:p.Lys2811fs	coding	Pathogenic
11	108345749	C	CA	G108345757A	ATM	NM_000051.3(ATM):c.8432dup:p.Ser2812fs	coding	Pathogenic
11	108345757	GTC	G	C108345759T	ATM	NM_000051.3(ATM):c.8435_8436del:p.Ser2812fs	coding	Pathogenic
11	108345759	CT	C	T108345763G	ATM	NM_000051.4(ATM):c.8439del:p.Phe2813fs	coding	Pathogenic
11	108345761	T	TTC	T108345763C	ATM	NM_000051.4(ATM):c.8438_8439insCT:p.Glu2814fs	coding	Pathogenic
11	108345763	TG	T	G108345764A	ATM	NM_001330368.2(C11orf65):c.641-36693del	coding	Pathogenic
11	108345797	C	CAA	T108345802A	ATM	NM_000051.3(ATM):c.8476_8477dup:p.Asn2826fs	coding	Pathogenic
11	108345801	AT	A	T108345805C	ATM	NM_000051.4(ATM):c.8481del:p.Gln2828fs	coding	Pathogenic
11	108345806	CA	C	A108345808C	ATM	NM_001330368.2(C11orf65):c.641-36736del	coding	Pathogenic
11	108345833	G	GA	T108345839A	ATM	NM_001330368.2(C11orf65):c.641-36767dup	coding	Pathogenic
11	108345854	AT	A	T108345857G	ATM	NM_000051.4(ATM):c.8533del:p.Trp2845fs	coding	Pathogenic
11	108345874	G	GGCTT	A108345879G	ATM	NM_000051.4(ATM):c.8551_8554dup:p.Tyr2852fs	coding	Pathogenic
11	108345889	TG	AA	T108345889A	ATM	NM_001330368.2(C11orf65):c.641-36819_641-36818delinsTT	coding	Pathogenic/Likely_pathogenic
11	108347301	T	TGATAGACATGTACAGAATATCTTGATAAATGAGCAGTCAGCAG	A108347345G	ATM	NM_000051.3(ATM):c.8608_8650dup:p.Glu2884delinsGlyTer	coding	Pathogenic
11	108347308	CAT	C	A108347309G	ATM	NM_001330368.2(C11orf65):c.641-38239_641-38238del	coding	Pathogenic
11	108347316	G	GA	T108347319A	ATM	NM_001330368.2(C11orf65):c.641-38247dup	coding	Pathogenic
11	108347319	TAT	AAAA	T108347319A	ATM	NM_001330368.2(C11orf65):c.641-38250_641-38248delinsTTTT	coding	Pathogenic
11	108347344	G	GA	C108347347A	ATM	NM_000051.4(ATM):c.8652dup:p.Leu2885fs	coding	Pathogenic
11	108347347	C	CT	G108347350T	ATM	NM_001330368.2(C11orf65):c.641-38278dup	coding	Pathogenic
11	108353764	AG	A	G108353766T	ATM	NM_001330368.2(C11orf65):c.640+32155del	noncoding	Pathogenic
11	108353768	G	GT	G108353771T	ATM	NM_000051.4(ATM):c.8676dup:p.Ala2893fs	coding	Pathogenic
11	108353772	C	CT	G108353777T	ATM	NM_000051.3(ATM):c.8682dup:p.Glu2895Ter	coding	Pathogenic
11	108353785	C	CA	T108353790A	ATM	NM_000051.3(ATM):c.8695dup:p.Ile2899fs	coding	Pathogenic
11	108353859	G	GT	G108353861T	ATM	NM_001330368.2(C11orf65):c.640+32060dup	coding	Pathogenic
11	108353872	CT	C	T108353874C	ATM	NM_000051.4(ATM):c.8780del:p.Phe2927fs	coding	Pathogenic
11	108353872	CTT	C	T108353873C	ATM	NM_000051.4(ATM):c.8779_8780del:p.Phe2927fs	coding	Pathogenic
11	108353873	TTCAGAAGG	T	C108353875A	ATM	NM_000051.3(ATM):c.8781_8786+2del	coding	Pathogenic
11	108354824	AC	A	C108354826A	ATM	NM_001330368.2(C11orf65):c.640+31095del	coding	Pathogenic/Likely_pathogenic
11	108354837	TGAGAAACTCTCAG	T	G108354840A	ATM	NM_000051.4(ATM):c.8816_8828del:p.Arg2939fs	coding	Pathogenic
11	108354837	TGAGAAACTCTC	T	G108354838A	ATM	NM_000051.3(ATM):c.8814_8824del:p.Met2938fs	coding	Pathogenic/Likely_pathogenic
11	108354839	AGAAACTCTCAG	A	C108354848G	ATM	NM_000051.4(ATM):c.8824_8834del:p.Gln2942fs	coding	Pathogenic
11	108354841	A	AAACT	C108354846A	ATM	NM_001330368.2(C11orf65):c.640+31075_640+31078dup	coding	Pathogenic
11	108354843	ACT	A	T108354847A	ATM	NM_000051.4(ATM):c.8821_8822TC[1]:p.Gln2942fs	coding	Pathogenic
11	108354854	ACT	A	C108354857G	ATM	NM_000051.4(ATM):c.8831_8832CT[1]:p.Leu2945fs	coding	Pathogenic
11	108354857	CTG	C	G108354859T	ATM	NM_000051.3(ATM):c.8835_8836del:p.Leu2946fs	coding	Pathogenic
11	108365086	TTC	T	C108365088A	ATM	NM_000051.4(ATM):c.8857_8858del:p.Leu2953fs	coding	Pathogenic
11	108365091	TATGATCCACTCTTTGAC	T	A108365092T	ATM	NM_000051.4(ATM):c.8861_8877del:p.Tyr2954fs	coding	Pathogenic
11	108365095	AT	A	T108365096C	ATM	NM_000051.4(ATM):c.8865del:p.Pro2956fs	coding	Pathogenic
11	108365102	C	CT	G108365106T	ATM	NM_001330368.2(C11orf65):c.640+20815dup	coding	Pathogenic
11	108365102	CTT	C	T108365104G	ATM	NM_001330368.2(C11orf65):c.640+20816_640+20817del	coding	Pathogenic
11	108365104	TTGAC	T	A108365107G	ATM	NM_000051.3(ATM):c.8876_8879del:p.Asp2959fs	coding	Pathogenic/Likely_pathogenic
11	108365149	GGCCGGAAGATG	TGT	G108365149T	ATM	NM_001330368.2(C11orf65):c.640+20760_640+20771delinsACA	coding	Pathogenic/Likely_pathogenic
11	108365155	A	AAGAT	G108365160A	ATM	NM_001330368.2(C11orf65):c.640+20761_640+20764dup	coding	Pathogenic
11	108365172	CA	C	A108365173C	ATM	NM_000051.3(ATM):c.8942del:p.His2981fs	coding	Pathogenic
11	108365175	C	CCTACT	G108365183A	ATM	NM_000051.4(ATM):c.8947_8951dup:p.Asn2985fs	coding	Pathogenic
11	108365335	CAG	C	A108365338T	ATM	NM_001330368.2(C11orf65):c.640+20583_640+20584del	coding	Pathogenic
11	108365339	GT	G	T108365342C	ATM	NM_001330368.2(C11orf65):c.640+20580del	coding	Pathogenic
11	108365350	G	GT	A108365352T	ATM	NM_000051.4(ATM):c.9014dup:p.Ala3006fs	coding	Pathogenic
11	108365356	G	GA	C108365359A	ATM	NM_000051.3(ATM):c.9021dup:p.Arg3008fs	coding	Pathogenic
11	108365373	ACTAC	A	C108365374A	ATM	NM_001330368.2(C11orf65):c.640+20543_640+20546del	coding	Pathogenic
11	108365375	T	TA	C108365377A	ATM	NM_001330368.2(C11orf65):c.640+20544dup	coding	Pathogenic
11	108365379	A	AGAGAAACT	A108365390G	ATM	NM_001330368.2(C11orf65):c.640+20533_640+20540dup	coding	Pathogenic
11	108365381	AGAAACTGAAAG	A	A108365384G	ATM	NM_001330368.2(C11orf65):c.640+20528_640+20538del	coding	Pathogenic/Likely_pathogenic
11	108365400	A	AG	A108365402G	ATM	NM_000051.3(ATM):c.9064dup:p.Glu3022fs	coding	Pathogenic/Likely_pathogenic
11	108365409	TG	T	G108365410T	ATM	NM_001330368.2(C11orf65):c.640+20510del	coding	Pathogenic
11	108365415	CAG	C	A108365416T	ATM	NM_000051.4(ATM):c.9079_9080del:p.Ser3027fs	coding	Pathogenic
11	108365415	C	CA	G108365417A	ATM	NM_000051.3(ATM):c.9079dup:p.Ser3027fs	coding	Pathogenic/Likely_pathogenic
11	108365427	AC	A	C108365428A	ATM	NM_000051.4(ATM):c.9091del:p.Gln3031fs	coding	Pathogenic
11	108365448	GC	G	C108365449A	ATM	NM_001330368.2(C11orf65):c.640+20471del	coding	Pathogenic
11	108365463	C	CA	T108365469A	ATM	NM_001330368.2(C11orf65):c.640+20452dup	coding	Pathogenic
11	108366029	CA	C	A108366048C	ATM	NM_001330368.2(C11orf65):c.640+19890del	noncoding	Benign
11	108509720	AG	A	G108509723T	EXPH5	NM_015065.3(EXPH5):c.5786del:p.Pro1929fs	coding	Pathogenic
11	110233418	G	GC	A110233420C	RDX	NM_001260496.1(RDX):c.405-1415dup	coding	Pathogenic
11	110236134	TC	T	C110236135T	RDX	NM_001260496.1(RDX):c.405-4131del	coding	Pathogenic
11	110279761	TA	T	A110279773G	RDX	NM_002906.3(RDX):c.-64-6del	noncoding	Benign/Likely_benign
11	111497242	GGAAT	G	A111497245C	BTG4	NM_017589.4(BTG4):c.475_478del:p.Ile159fs	coding	Pathogenic
11	111908777	GC	G	C111908778T	CRYAB	NM_001289808.2(CRYAB):c.514del:p.Ala172fs	coding	Pathogenic
11	111908826	CAG	C	A111908827G	CRYAB	NM_001289808.2(CRYAB):c.464_465del:p.Pro155fs	coding	Pathogenic
11	111908841	GT	G	T111908844C	CRYAB	NM_001289808.2(CRYAB):c.450del:p.Lys150fs	coding	Pathogenic
11	111908948	GA	G	A111908949G	CRYAB	NM_001289808.2(CRYAB):c.343del:p.Ser115fs	coding	Pathogenic/Likely_pathogenic
11	111911664	TG	T	G111911669A	CRYAB	NM_001289808.2(CRYAB):c.60del:p.Ser21fs	coding	Pathogenic
11	112061006	C	CAA	T112061007A	DLAT	NM_001931.5(DLAT):c.1678-32_1678-31insAA	noncoding	Benign
11	112086916	T	TC	T112086918C	SDHD	NM_003002.4(SDHD):c.10dup:p.Leu4fs	coding	Pathogenic
11	112086919	CTG	C	T112086920G	SDHD	NM_003002.4(SDHD):c.13_14del:p.Trp5fs	coding	Pathogenic
11	112087856	G	GC	T112087858C	SDHD	NM_003002.4(SDHD):c.53dup:p.Leu19fs	coding	Pathogenic
11	112087860	TG	T	G112087861T	SDHD	NM_003002.4(SDHD):c.57del:p.Leu20fs	coding	Pathogenic
11	112087895	ATC	A	T112087898A	SDHD	NM_003002.4(SDHD):c.92_93TC[1]:p.Ala33fs	coding	Pathogenic
11	112087928	GAAT	ATA	G112087928A	SDHD	NM_003002.4(SDHD):c.124_127delinsATA:p.Glu42fs	coding	Pathogenic
11	112087938	GAGTGCAGCACATACACTTGTCACCGA	G	A112087939G	SDHD	NM_003002.4(SDHD):c.135_160del:p.Val46fs	coding	Pathogenic
11	112087950	T	TA	C112087952A	SDHD	NM_003002.4(SDHD):c.147dup:p.His50fs	coding	Pathogenic
11	112088868	TG	T	G112088870C	SDHD	NM_003002.4(SDHD):c.173del:p.Gly58fs	coding	Pathogenic
11	112088883	ATC	A	T112088888C	SDHD	NM_003002.4(SDHD):c.187_188TC[2]:p.Leu64fs	coding	Pathogenic
11	112088899	AGC	A	C112088901A	SDHD	NM_003002.4(SDHD):c.204_205del:p.Ser68fs	coding	Pathogenic
11	112088937	TC	T	C112088939G	SDHD	NM_003002.4(SDHD):c.242del:p.Pro81fs	coding	Pathogenic
11	112088973	CTAT	C	A112088975C	SDHD	NM_003002.4(SDHD):c.278_280del:p.Tyr93del	coding	Pathogenic
11	112088991	CCTCA	C	A112088995T	SDHD	NM_003002.4(SDHD):c.298_301del:p.Thr100fs	coding	Pathogenic
11	112093690	ATTCCTTATCATGACCTTCAAGACCCTATGCAACCGACCCCTGCCTTCCTCTGATCTCTGCTTCACCCATGTGCTCCAGCCACACAAATCTTACTATTCATTAGAGATGCCACTTTGGTTTGGATGTTCTCATTCATGTCTTCCTTTCTAAAGTGTTTCTTCTCAGTACATATATATTTACTTTTTCCTTCTCATTCACTAGTATATTCCATAAGGGTAGGGATGCTGTCTCACTTACTATACTCCCAACATTTATGACAGATTCTGGCACATGATATCTACTTAATAAATTCTTTTTGAATTAATTAAAAATACTGTAGAGTTTTAGTTATTTTTAGTTATTGGGGTGAAAGGATCACTTGCAGCCAAGAGTTCAAGACCAGCCTGGGCATCATGGTGAGACCGCATCTTTAAAGAAATAAAAAACAGGCCAGGCGCAGTAGCTCACGCCTGTAGTCCCAACACTTTGGGAGGCTGAGGTGGGCGGATCACAAGGTCAGGAGTTCGAGACCAGCCTGGCCAATATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCTGGGTGTGGTGGTGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGGGGCAGGAGAATCACTTGAACCCGGGAGGCGGAGGTTGTAGTGAGCCGAGATCGTGCCACTGCACTCCAGCCTGGGCAAAAGAGCGAGACTCTGTCTCAATAAATAAATAAATAAATAAATAAATAGAAGGAAATAAAAAACAATTAGCCGGGCATGGAGGCATGCTCCTATAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGGATCACTTGAGCTCAGGAGTTCGAGGCTGTAGTGAGCTATGATCAGGCCACTGCACTCCAGCGTGGGCAACAGAGTAAGACTTTGTCTCTAAAGAAAAGTCACTAGAAATAGACTTACTGACATACACACGCAAAAGGCTATACAGAATCCCCTAAAGAAGCAAACAGTGACAGTGGAGTGGCAAATGGAGACATTGCATTTGAACTTGACAGATTGTTTTTTTGCAGCCAAGTTATCTGTATAGTCTTCTAATTTCACTGTGGTTTTTTATTGATGTTATGATTTTTTCTTTTTCTTTAGGGGCCTTGGACAAGTTGTTACTGACTATGTTCATGGGGATGCCTTGCAGAAAGCTGCCAAGGCAGGGCTTTTGGCACTTTCAGCTTTAACCTTTGCTGGGCTTTGCTATTTCAACTATCACGATGTGGGCATCTGCAAAGCTGTTGCCATGCTGTGGAAGCTCTGACCTTTTTGACTTCATACTTTGAAGAATTGATGTATGCCTCTTTGCCTCTGCTTTGTCATGCCATTAAGCTCACAATAAGGAAGAAATAACAGATAAGTCCATTGGTGGACAGCCTTCTTCTCTTAATCACAAGATTATTTTCAGAATTTAATCTTTGAGGAAAAGGTTTGAGAGGAATTATATCTAAGTTGTGAGACTGAGTTCTATATTCTGGTGAGTTAATGGGGTTGCCTCCCAGCTTCTTATAAGACTCACAGTATAACTAAACATGATATATCAGCTTTTGCCTTTCAATTTATCAATCTCTTAAAGAGAATCCAACTTTATTACGATTAGTATATGATCAAACTTCCATATTTGCCTTGGGAATAATGGACAAAGGGAAATACTCTTAATTCATGAATAAAAACTTTGCAGAAAATTAGACAGTGTTTAATTTTCGAAAACTTCCCTCTCTAGACAGTAGATACCACCTACTGATGGTTACATATACTAGGGAAATTTTAAAATTAGGAAATGCTGATAGCTCATATTATAAATTTCTAAATCCTAGGAAGAAACGCTTGGAGTGCTTCTGAATATACAGAAGTTCCATTTAAGGGCAAGTTTCCCTGTAGATGTATCAAAATACTACCAACTGTAAATTGAGATTTAATTCCCAAATGTATTCTACTTGTTCTAAAACAATCTGTCCACAAATATAAAACTATAAGTAATAAATTGTTATTTTCGCACAATGGGAATCTCTAATGTGAAAATGTATTCTATGAAAATAATTTTTTTAAATAAAATGTTATATAATAAAAGTGTCTTCTATGCTTTTATATATTAGCTATCAGTAGTTTTATTCATTAGAATTAGGTGTCCATTGCATCCACAGCATGAAAACAAAATTGGG	A	C112093693T	SDHD	NG_012337.3(SDHD):g.11847_14024del	noncoding	Pathogenic
11	112094804	GGGGCCTTGGACAAGTTGTTACTGACTATGTTCATGGGGATGCCTTGCAGAAAGCTGCCAAGGCAGGGCTTTTGGCACTTTCAGCTTTAACCTTTGCTGGGCTTTGCTATTTCAACTATCACGATGTGGGCATCTGCAAAGCTGTTGCCATGCTGTGGAAGCTCTGA	G	G112094805C	SDHD	NM_003002.4(SDHD):c.315_480del:p.Trp105fs	coding	Pathogenic
11	112094823	TACTG	T	G112094827A	SDHD	NM_003002.4(SDHD):c.337_340del:p.Asp113fs	coding	Pathogenic
11	112094825	C	CT	G112094827T	SDHD	NM_003002.4(SDHD):c.336dup:p.Asp113Ter	coding	Pathogenic
11	112094827	G	GT	A112094828T	SDHD	NM_003002.4(SDHD):c.337_338insT:p.Asp113fs	coding	Pathogenic
11	112094838	TG	T	G112094842A	SDHD	NM_003002.4(SDHD):c.352del:p.Asp118fs	coding	Pathogenic
11	112094868	AG	A	G112094871C	SDHD	NM_003002.4(SDHD):c.381del:p.Leu128fs	coding	Pathogenic
11	112094872	C	CTTTT	G112094877T	SDHD	NM_003002.4(SDHD):c.383_386dup:p.Leu129fs	coding	Pathogenic
11	112094876	T	TG	C112094879G	SDHD	NM_003002.4(SDHD):c.388dup:p.Ala130fs	coding	Pathogenic
11	112094881	CT	C	T112094884C	SDHD	NM_003002.4(SDHD):c.394del:p.Ser132fs	coding	Pathogenic/Likely_pathogenic
11	112094930	TG	T	G112094933C	SDHD	NM_003002.4(SDHD):c.443del:p.Gly148fs	coding	Pathogenic
11	112094952	CA	C	A112094953T	SDHD	NM_003002.4(SDHD):c.463del:p.Met155fs	coding	Pathogenic
11	112228613	GA	G	A112228617C	PTS	NM_000317.3(PTS):c.107del:p.Asn36fs	coding	Pathogenic
11	112228625	CTGTT	C	T112228628G	PTS	NM_000317.3(PTS):c.118_121del:p.Phe40fs	coding	Pathogenic
11	112229366	TGTAAAGCACTGATAAAGTTTTTTTTTGTTGTTGTTGTTTTTTTTTTTGAGATGGA	T	A112229369T	PTS	NM_000317.3(PTS):c.163+696_163+750del	noncoding	Pathogenic
11	112233477	AGTTCTTCCTGTAGG	A	G112233478A	PTS	NM_000317.3(PTS):c.361_374del:p.Val121fs	coding	Pathogenic
11	112233506	TA	T	A112233510G	PTS	NM_000317.3(PTS):c.393del:p.Val132fs	coding	Pathogenic/Likely_pathogenic
11	113338801	GA	G	A113338804T	TTC12	NM_017868.4(TTC12):c.607del:p.Glu202_Ile203insTer	coding	Pathogenic
11	113696918	TG	T	G113696921A	TMPRSS5	NM_030770.4(TMPRSS5):c.517del:p.Gln173fs	coding	Benign
11	115209591	ATGGTGGTGG	A	G115209617T	CADM1	NM_001098517.2(CADM1):c.994+4984CCA[8]	coding	Benign
11	116790235	CTGTT	C	T116790240G	APOA5	NM_001371904.1(APOA5):c.990_993del:p.Asp332fs	coding	Pathogenic
11	116836078	G	GGC	G116836090C	APOA1	NM_000039.2(APOA1):c.524_525GC[6]:p.His179fs	coding	Pathogenic
11	117351969	A	AC	A117351977C	CEP164	NM_014956.5(CEP164):c.381dup:p.Lys128fs	coding	Pathogenic
11	117390787	GA	G	A117390788G	CEP164	NM_014956.5(CEP164):c.1946del:p.Glu649fs	coding	Pathogenic
11	117396185	GCTGGGGGCTGGGGC	G	C117396200A	CEP164	NM_014956.5(CEP164):c.3216+20_3216+33del	noncoding	Benign
11	118176350	T	TGA	T118176352A	SCN2B	NM_004588.5(SCN2B):c.70+11_70+12insCT	noncoding	Benign
11	118233495	TAC	T	A118233498G	MPZL3	NM_198275.3(MPZL3):c.642_643GT[1]:p.Cys215fs	coding	Benign
11	118260174	GC	G	C118260176A	MPZL2	NM_005797.4(MPZL2):c.463del:p.Ala155fs	coding	Pathogenic
11	118263083	CT	C	T118263084A	MPZL2	NM_005797.4(MPZL2):c.72del:p.Ile24fs	coding	Pathogenic
11	118312641	ACC	A	C118312642A	CD3E	NM_000733.3(CD3E):c.128_129del:p.Thr43fs	coding	Pathogenic
11	118312772	ATT	A	T118312775C	CD3E	NM_000733.4(CD3E):c.261_262del:p.Ser88fs	coding	Pathogenic
11	118344360	AGGCT	A	G118344378C	CD3D;CD3G	NM_000073.2(CD3G):c.-46_-43delGCTG	noncoding	Benign/Likely_benign
11	118349740	CAGGAAACCACTTGGTTA	C	A118349744T	CD3G	NM_000073.2(CD3G):c.80_96del	noncoding	Pathogenic
11	118349867	T	TA	T118349877A	CD3G	NM_000073.2(CD3G):c.213dup:p.Trp72fs	coding	Pathogenic
11	118350634	TG	CT	T118350634C	CD3G	NM_000073.2(CD3G):c.390_391delinsCT:p.Val131Phe	coding	Benign
11	118384947	TA	T	A118384968G	UBE4A	NM_001204077.2(UBE4A):c.2412+23del	noncoding	Benign
11	118436641	GC	G	C118436646G	KMT2A	NM_005933.4(KMT2A):c.134del:p.Pro45fs	coding	Pathogenic
11	118436678	TC	T	C118436685G	KMT2A	NM_001197104.2(KMT2A):c.173del:p.Pro58fs	coding	Pathogenic
11	118436678	T	TA	C118436679A	KMT2A	NM_001197104.2(KMT2A):c.166_167insA:p.Ser56fs	coding	Pathogenic
11	118436678	T	TC	G118436686C	KMT2A	NM_001197104.2(KMT2A):c.173dup:p.Ala59fs	coding	Pathogenic
11	118436818	GC	G	C118436820G	KMT2A	NM_001197104.2(KMT2A):c.308del:p.Pro103fs	coding	Pathogenic
11	118471761	A	AT	A118471762T	KMT2A	NM_001197104.2(KMT2A):c.602_603insT:p.Lys201fs	coding	Pathogenic
11	118471813	AGAAAAGAAGAGAGGAAGACCTCCCA	TTTACT	A118471813T	KMT2A	NM_001197104.2(KMT2A):c.654_679delinsTTTACT:p.Glu219fs	coding	Pathogenic
11	118471918	GA	G	A118471925T	KMT2A	NM_001197104.2(KMT2A):c.766del:p.Ile256fs	coding	Pathogenic
11	118471918	G	GA	T118471926A	KMT2A	NM_005933.4(KMT2A):c.766dup:p.Ile256fs	coding	Pathogenic
11	118471990	ACTCT	A	T118471994C	KMT2A	NM_001197104.2(KMT2A):c.835_838del:p.Ser279fs	coding	Pathogenic
11	118472043	AG	A	G118472048T	KMT2A	NM_001197104.2(KMT2A):c.889del:p.Val297fs	coding	Pathogenic
11	118472093	A	AC	T118472094C	KMT2A	NM_001197104.2(KMT2A):c.934_935insC:p.Ile312fs	coding	Pathogenic
11	118472196	CA	C	A118472197G	KMT2A	NM_005933.4(KMT2A):c.1038del:p.Val347fs	coding	Pathogenic
11	118472295	C	CA	G118472302A	KMT2A	NM_001197104.2(KMT2A):c.1142dup:p.Ala383fs	coding	Pathogenic
11	118472625	ACT	A	T118472629A	KMT2A	NM_001197104.2(KMT2A):c.1468_1469TC[1]:p.Gln491fs	coding	Pathogenic
11	118473001	AC	A	C118473003G	KMT2A	NM_001197104.2(KMT2A):c.1844del:p.Pro615fs	coding	Pathogenic
11	118473024	TA	T	A118473027G	KMT2A	NM_005933.4(KMT2A):c.1868del:p.Lys623fs	coding	Pathogenic
11	118473226	T	TA	T118473228A	KMT2A	NM_005933.4(KMT2A):c.2068dup:p.Met690fs	coding	Pathogenic
11	118473351	TA	T	A118473352T	KMT2A	NM_005933.4(KMT2A):c.2193del:p.Ser732fs	coding	Pathogenic
11	118473419	TC	T	C118473421A	KMT2A	NM_005933.4(KMT2A):c.2262del:p.Ser754_Met755insTer	coding	Pathogenic
11	118473470	A	AC	G118473478C	KMT2A	NM_005933.4(KMT2A):c.2318dup:p.Ser774fs	coding	Pathogenic
11	118473470	AC	A	C118473477G	KMT2A	NM_005933.4(KMT2A):c.2318del:p.Pro773fs	coding	Pathogenic
11	118473477	C	CG	T118473479G	KMT2A	NM_005933.4(KMT2A):c.2319dup:p.Ser774fs	coding	Pathogenic
11	118473505	TTC	T	C118473507G	KMT2A	NM_005933.4(KMT2A):c.2348_2349del:p.Ser783fs	coding	Pathogenic
11	118473671	TG	T	G118473673T	KMT2A	NM_005933.4(KMT2A):c.2514del:p.Trp838fs	coding	Pathogenic
11	118473677	AC	A	C118473681A	KMT2A	NM_001197104.2(KMT2A):c.2522del:p.Pro841fs	coding	Pathogenic
11	118473709	TAA	T	A118473711G	KMT2A	NM_001197104.2(KMT2A):c.2552_2553del:p.Lys851fs	coding	Pathogenic
11	118473777	GTA	G	T118473778G	KMT2A	NM_001197104.2(KMT2A):c.2619_2620del:p.Ser873fs	coding	Pathogenic
11	118473828	AAG	A	G118473832A	KMT2A	NM_005933.4(KMT2A):c.2671_2672GA[1]:p.Arg893fs	coding	Pathogenic
11	118476794	CTCATATTCAGGG	C	T118476798A	KMT2A	NM_001197104.2(KMT2A):c.3157-7_3161del	noncoding	Pathogenic
11	118476826	GAGACCT	CTAGGCTGCAGTGAGCTGTGACTGTGCCACTGTATTGCAGCCTAGGCAACAAAGCAATC	G118476826C	KMT2A	NM_001197104.2(KMT2A):c.3178_3184delinsCTAGGCTGCAGTGAGCTGTGACTGTGCCACTGTATTGCAGCCTAGGCAACAAAGCAATC:p.Glu1060_Ser1062delinsLeuGlyCysSerGluLeuTer	coding	Pathogenic
11	118477971	GT	G	T118477972C	KMT2A	NM_001197104.2(KMT2A):c.3340del:p.Ser1114fs	coding	Pathogenic
11	118478002	CCT	C	C118478005T	KMT2A	NM_001197104.2(KMT2A):c.3373_3374del:p.Leu1125fs	coding	Pathogenic
11	118478190	GC	TT	G118478190T	KMT2A	NM_005933.4(KMT2A):c.3558_3559delinsTT:p.Lys1186_Gln1187delinsAsnTer	coding	Pathogenic
11	118481727	AAG	A	G118481731A	KMT2A	NM_005933.4(KMT2A):c.3649_3650GA[1]:p.Lys1219fs	coding	Pathogenic
11	118481730	A	AG	A118481732G	KMT2A	NM_005933.4(KMT2A):c.3651dup:p.Lys1218fs	coding	Pathogenic
11	118481757	AAGAC	A	A118481760C	KMT2A	NM_001197104.2(KMT2A):c.3680_3683del:p.Asp1227fs	coding	Pathogenic
11	118481998	G	GC	T118482001C	KMT2A	NM_001197104.2(KMT2A):c.3920dup:p.Gln1308fs	coding	Pathogenic
11	118482012	C	CT	A118482014T	KMT2A	NM_001197104.2(KMT2A):c.3933dup:p.Thr1312fs	coding	Pathogenic
11	118482435	CA	C	A118482438C	KMT2A	NM_005933.4(KMT2A):c.4029del:p.Lys1343fs	coding	Pathogenic
11	118482440	AG	A	G118482441A	KMT2A	NM_001197104.2(KMT2A):c.4032del:p.Val1347fs	coding	Pathogenic
11	118484971	T	TAG	G118484976A	KMT2A	NM_005933.4(KMT2A):c.4329_4330AG[3]:p.Phe1445fs	coding	Pathogenic
11	118488713	CG	C	G118488714T	KMT2A	NM_005933.4(KMT2A):c.4433del:p.Arg1478fs	coding	Pathogenic
11	118490151	G	GT	A118490153T	KMT2A	NM_005933.4(KMT2A):c.4599dup:p.Lys1534Ter	coding	Pathogenic
11	118491201	T	TTCTGAAACTC	C118491206A	KMT2A	NM_001197104.1(KMT2A):c.4706_4707insAAACTCTCTG:p.Cys1569Ter	coding	Pathogenic
11	118493167	TC	T	C118493168A	KMT2A	NM_005933.4(KMT2A):c.5107del:p.Gln1703fs	coding	Pathogenic
11	118494304	A	AT	A118494306T	KMT2A	NM_001197104.2(KMT2A):c.5196dup:p.Ile1733fs	coding	Pathogenic
11	118496323	A	AG	A118496325G	KMT2A	NM_005933.4(KMT2A):c.5612dup:p.Gln1872fs	coding	Pathogenic
11	118496358	CA	C	A118496359G	KMT2A	NM_001197104.2(KMT2A):c.5656del:p.Ser1886fs	coding	Pathogenic
11	118498370	A	AGATGTGAATTCTGC	C118498385G	KMT2A	NM_001197104.2(KMT2A):c.5804_5817dup:p.Gln1940fs	coding	Pathogenic
11	118499339	GTGTT	G	T118499343G	KMT2A	NM_001197104.1(KMT2A):c.6002_6005del:p.Phe2001fs	coding	Pathogenic
11	118501131	TC	T	C118501133A	KMT2A	NM_005933.4(KMT2A):c.6296del:p.Pro2099fs	coding	Pathogenic
11	118501131	T	TC	A118501134C	KMT2A	NM_001197104.2(KMT2A):c.6305dup:p.Thr2103fs	coding	Pathogenic
11	118502389	CTT	C	T118502390G	KMT2A	NM_001197104.2(KMT2A):c.6506-8_6506-7del	noncoding	Benign
11	118502700	CA	C	A118502703G	KMT2A	NM_001197104.1(KMT2A):c.6811del:p.Arg2271fs	coding	Pathogenic
11	118502804	CT	C	T118502805C	KMT2A	NM_005933.4(KMT2A):c.6904del:p.Ser2302fs	coding	Pathogenic
11	118502960	AC	A	C118502963T	KMT2A	NM_001197104.2(KMT2A):c.7071del:p.Ser2358fs	coding	Pathogenic
11	118503013	AT	A	T118503016G	KMT2A	NM_001197104.2(KMT2A):c.7124del:p.His2374_Leu2375insTer	coding	Pathogenic
11	118503078	C	CCAGAT	G118503084C	KMT2A	NM_005933.4(KMT2A):c.7178_7182dup:p.Glu2395fs	coding	Pathogenic
11	118503118	GAATGAGCAACA	TTATG	G118503118T	KMT2A	NM_001197104.2(KMT2A):c.7226_7237delinsTTATG:p.Gly2409fs	coding	Pathogenic
11	118503235	CT	C	T118503241G	KMT2A	NM_001197104.2(KMT2A):c.7349del:p.Leu2450fs	coding	Pathogenic
11	118503388	GA	G	A118503389G	KMT2A	NM_005933.4(KMT2A):c.7488del:p.Val2497fs	coding	Pathogenic
11	118503456	ACAGT	A	G118503459A	KMT2A	NM_001197104.1(KMT2A):c.7567_7570del:p.Val2523fs	coding	Pathogenic/Likely_pathogenic
11	118503534	GC	G	C118503535T	KMT2A	NM_001197104.2(KMT2A):c.7643del:p.Ala2548fs	coding	Pathogenic
11	118503613	CCCAA	C	C118503618G	KMT2A	NM_005933.4(KMT2A):c.7713_7716CCAA[1]:p.Pro2573fs	coding	Pathogenic
11	118503732	TC	T	C118503733T	KMT2A	NM_001197104.2(KMT2A):c.7841del:p.Ser2614fs	coding	Pathogenic
11	118503788	TG	T	G118503791C	KMT2A	NM_001197104.2(KMT2A):c.7899del:p.Thr2635fs	coding	Pathogenic
11	118503816	TC	T	C118503818T	KMT2A	NM_001197104.2(KMT2A):c.7926del:p.Tyr2643fs	coding	Pathogenic
11	118504036	CA	C	A118504041T	KMT2A	NM_005933.4(KMT2A):c.8140del:p.Ile2714fs	coding	Pathogenic
11	118504157	CT	C	T118504159A	KMT2A	NM_005933.4(KMT2A):c.8258del:p.Asn2752_Leu2753insTer	coding	Pathogenic
11	118504159	T	TA	G118504163A	KMT2A	NM_005933.4(KMT2A):c.8261dup:p.Ile2755fs	coding	Pathogenic
11	118504294	AAGCTC	A	G118504306T	KMT2A	NM_001197104.2(KMT2A):c.8404_8408GCTCA[2]:p.Ser2805fs	coding	Pathogenic
11	118504341	AC	A	C118504346T	KMT2A	NM_001197104.2(KMT2A):c.8454del:p.Ser2819fs	coding	Pathogenic
11	118504690	ATCTG	A	G118504698T	KMT2A	NM_005933.4(KMT2A):c.8793_8796GTCT[1]:p.Ser2932_Val2933insTer	coding	Pathogenic
11	118504754	TATCTC	T	T118504756G	KMT2A	NM_005933.4(KMT2A):c.8855_8859del:p.Ile2952fs	coding	Pathogenic
11	118505002	CTGTT	C	G118505004C	KMT2A	NM_005933.4(KMT2A):c.9103_9106del:p.Val3035fs	coding	Pathogenic
11	118505274	AT	A	T118505275G	KMT2A	NM_005933.4(KMT2A):c.9374del:p.Met3125fs	coding	Pathogenic
11	118505457	A	GAAGGC	A118505457G	KMT2A	NM_001197104.2(KMT2A):c.9565delinsGAAGGC:p.Ile3189fs	coding	Pathogenic
11	118505517	GACCTCAGT	G	T118505521A	KMT2A	NM_001197104.2(KMT2A):c.9629_9636del:p.Leu3210fs	coding	Pathogenic
11	118505604	GCTCCCTCTAGTACCCCTTCAAA	G	T118505606A	KMT2A	NM_001197104.2(KMT2A):c.9714_9735del:p.Pro3239fs	coding	Pathogenic
11	118505659	CAT	C	A118505660T	KMT2A	NM_001197104.2(KMT2A):c.9768_9769del:p.Leu3257fs	coding	Pathogenic
11	118505801	CCT	C	C118505802G	KMT2A	NM_005933.4(KMT2A):c.9901_9902del:p.Leu3301fs	coding	Pathogenic
11	118505812	AG	A	G118505813A	KMT2A	NM_001197104.2(KMT2A):c.9921del:p.Ser3308fs	coding	Pathogenic
11	118506042	CTT	C	T118506045A	KMT2A	NM_001197104.2(KMT2A):c.10153_10154del:p.Leu3385fs	coding	Pathogenic
11	118506213	AC	A	C118506214A	KMT2A	NM_001197104.2(KMT2A):c.10322del:p.Thr3441fs	coding	Pathogenic
11	118506224	A	AC	T118506227C	KMT2A	NM_005933.4(KMT2A):c.10325dup:p.Ser3443fs	coding	Pathogenic
11	118506266	GA	G	A118506268C	KMT2A	NM_001197104.2(KMT2A):c.10376del:p.Asn3459fs	coding	Pathogenic
11	118506437	T	TG	T118506443G	KMT2A	NM_001197104.2(KMT2A):c.10550dup:p.Ser3518fs	coding	Pathogenic
11	118510042	G	GA	C118510049A	KMT2A	NM_001197104.2(KMT2A):c.11001dup:p.Pro3668fs	coding	Pathogenic
11	118510076	TC	T	C118510078A	KMT2A	NM_005933.4(KMT2A):c.11022del:p.Ser3675fs	coding	Pathogenic
11	118519608	ATTC	A	T118519613A	KMT2A	NM_001197104.2(KMT2A):c.11147-5_11147-3del	coding	Benign
11	118519745	AC	A	C118519751T	KMT2A	NM_005933.4(KMT2A):c.11271del:p.Pro3757_Leu3758insTer	coding	Pathogenic
11	118520019	AC	A	C118520023A	KMT2A	NM_001197104.2(KMT2A):c.11388del:p.Asn3797fs	coding	Pathogenic
11	118521302	G	GC	G118521305C	KMT2A	NM_005933.4(KMT2A):c.11521dup:p.Arg3841fs	coding	Pathogenic
11	118535613	CAGTGTGGA	C	T118535616C	TMEM25	NM_032780.4(TMEM25):c.*1036_*1043del	coding	Benign
11	118581394	CAG	C	A118581399T	ARCN1	NM_001655.5(ARCN1):c.153_154AG[2]:p.Ser53fs	coding	Pathogenic
11	118583990	CA	C	A118583994G	ARCN1	NM_001655.5(ARCN1):c.633del:p.Val212fs	coding	Pathogenic
11	118758904	T	TG	A118758913G	DDX6	NM_004397.6(DDX6):c.865-10dup	noncoding	Benign
11	119025270	CAG	C	A119025271G	SLC37A4	NM_001164277.1(SLC37A4):c.1042_1043del:p.Leu348fs	coding	Pathogenic
11	119025992	AC	A	C119025995G	SLC37A4	NM_001164277.1(SLC37A4):c.958del:p.Arg319_Val320insTer	coding	Pathogenic
11	119026014	C	CT	G119026016T	SLC37A4	NM_001164278.2(SLC37A4):c.936dup:p.Val313fs	coding	Pathogenic
11	119026021	GC	G	C119026023A	SLC37A4	NM_001164277.1(SLC37A4):c.929del:p.Gly310fs	coding	Pathogenic
11	119026023	CA	C	A119026024G	SLC37A4	NM_001164277.1(SLC37A4):c.927del:p.Gly310fs	coding	Pathogenic
11	119026654	GC	G	C119026659A	SLC37A4	NM_001467.6(SLC37A4):c.818del:p.Gly273fs	coding	Pathogenic
11	119026675	CAT	C	A119026676G	SLC37A4	NM_001164277.1(SLC37A4):c.796_797del:p.Met266fs	coding	Pathogenic
11	119027725	AC	A	C119027727A	SLC37A4	NM_001467.6(SLC37A4):c.527=:p.Cys176=	coding	Benign
11	119027793	AT	A	T119027794A	SLC37A4	NM_001467.6(SLC37A4):c.460del:p.Ile154fs	coding	Pathogenic
11	119028215	T	TG	C119028221G	SLC37A4	NM_001164277.1(SLC37A4):c.359dup:p.Cys121fs	coding	Pathogenic/Likely_pathogenic
11	119028229	G	GCC	T119028234C	SLC37A4	NM_001164277.1(SLC37A4):c.344_345dup:p.Leu116fs	coding	Pathogenic/Likely_pathogenic
11	119028229	G	GC	T119028234C	SLC37A4	NM_001164277.1(SLC37A4):c.345dup:p.Leu116fs	coding	Pathogenic
11	119028399	GCTGCCGA	G	C119028403G	SLC37A4	NM_001164278.2(SLC37A4):c.169_175del:p.Ser57fs	coding	Pathogenic
11	119029292	GAAGT	G	G119029295T	SLC37A4	NM_001164277.1(SLC37A4):c.74_77del:p.Tyr25fs	coding	Pathogenic/Likely_pathogenic
11	119029310	G	GC	A119029316C	SLC37A4	NM_001164277.1(SLC37A4):c.59dup:p.Tyr21fs	coding	Pathogenic
11	119069228	TC	T	C119069231T	VPS11	NM_021729.5(VPS11):c.223del:p.Leu75fs	coding	Benign
11	119069231	C	CT	A119069233T	VPS11	NM_021729.5(VPS11):c.224dup:p.Gln76fs	coding	Benign
11	119088258	GA	G	A119088262C	HMBS	NM_000190.4(HMBS):c.41del:p.Asn14fs	coding	Pathogenic
11	119089087	ATG	A	G119089089C	HMBS	NM_000190.4(HMBS):c.168_169del:p.Met56fs	coding	Pathogenic
11	119089093	AC	A	C119089095A	HMBS	NM_000190.4(HMBS):c.174del:p.Thr59fs	coding	Pathogenic
11	119089098	A	AG	A119089103G	HMBS	NM_000190.4(HMBS):c.181dup:p.Asp61fs	coding	Pathogenic
11	119089127	C	CT	A119089129T	HMBS	NM_000190.4(HMBS):c.207dup:p.Lys70Ter	coding	Pathogenic
11	119089220	GGA	G	G119089225A	HMBS	NM_000190.4(HMBS):c.215_216GA[2]:p.Ser75fs	coding	Pathogenic
11	119089225	G	GA	G119089230A	HMBS	NM_000190.4(HMBS):c.223dup:p.Ser75fs	coding	Pathogenic
11	119089621	AGAAGGGGT	A	G119089627C	HMBS	NM_000190.4(HMBS):c.267-56_267-49del	noncoding	Benign
11	119089737	CT	C	T119089739C	HMBS	NM_000190.4(HMBS):c.323del:p.Phe108fs	coding	Pathogenic
11	119090042	AC	A	C119090045T	HMBS	NM_000190.4(HMBS):c.400del:p.Thr133_Leu134insTer	coding	Pathogenic
11	119091448	CG	C	G119091449A	HMBS	NM_000190.4(HMBS):c.535del:p.Glu179fs	coding	Pathogenic
11	119091456	A	AG	A119091459G	HMBS	NM_000190.4(HMBS):c.544dup:p.Glu182fs	coding	Pathogenic
11	119092134	CCT	C	C119092135G	HMBS	NM_000190.4(HMBS):c.623_624del:p.Pro208fs	coding	Pathogenic
11	119092401	CA	C	A119092402G	HMBS	NM_000190.4(HMBS):c.652-2del	noncoding	Pathogenic
11	119092416	GTGGAAGTGCGAGCCAAGGACCAGGACATCT	G	A119092421T	HMBS	NM_000190.4(HMBS):c.669_698del:p.Glu223_Leu232del	coding	Pathogenic
11	119092467	CA	C	A119092468C	HMBS	NM_000190.4(HMBS):c.716del:p.His239fs	coding	Pathogenic
11	119092479	ACT	A	C119092482G	HMBS	NM_000190.4(HMBS):c.728_729CT[1]:p.Leu244fs	coding	Pathogenic
11	119092481	T	TCTGCTTCG	A119092494T	HMBS	NM_000190.4(HMBS):c.734_741dup:p.Ile248fs	coding	Pathogenic
11	119092955	CTG	C	T119092956G	HMBS	NM_000190.4(HMBS):c.847_848del:p.Trp283fs	coding	Pathogenic
11	119093008	AT	A	T119093009G	HMBS	NM_000190.4(HMBS):c.900del:p.His300fs	coding	Pathogenic
11	119093134	CCA	C	C119093137G	HMBS	NM_000190.4(HMBS):c.940_941del:p.Gln314fs	coding	Pathogenic
11	119093174	GGCCCCAGTTGGCT	G	C119093179A	HMBS	NM_000190.4(HMBS):c.982_994del:p.Gln328fs	coding	Pathogenic
11	119093273	ATGCCCATTAACTGGTTTGTGGGGCACAGATGCCTGGGTTGCTGCTGTCCAGTGCC	A	G119093275A	HMBS	NM_000190.4(HMBS):c.1078_*46del:p.Ala360fs	coding	Pathogenic
11	119098431	T	TG	A119098433G	DPAGT1	NM_001382.4(DPAGT1):c.699dup:p.Thr234fs	coding	Pathogenic
11	119100730	G	GGCAGCTGTAGGTAGCA	T119100753G	DPAGT1	NM_001382.4(DPAGT1):c.380_395dup:p.Ser133fs	coding	Pathogenic
11	119101629	C	CA	T119101631A	DPAGT1	NM_001382.4(DPAGT1):c.26dup:p.Met9fs	coding	Pathogenic
11	119206522	GCAC	G	A119206542T	CBL	NM_005188.3(CBL):c.125_127delACC	coding	Benign/Likely_benign
11	119206522	G	GCAC	T119206545A	CBL	NM_005188.4(CBL):c.107_109ACC[8]:p.His42dup	coding	Benign/Likely_benign
11	119277821	CAAGACCATATCA	C	A119277825T	CBL	NM_005188.3(CBL):c.1076_1087del:p.Asp359_Lys362del	coding	Pathogenic
11	119278161	CAAAG	C	A119278162G	CBL	NM_005188.3(CBL):c.1096-4_1096-1del	noncoding	Pathogenic/Likely_pathogenic
11	119278299	TAC	AAG	T119278299A	CBL	NM_005188.3(CBL):c.1227+2_1227+4delinsAAG	noncoding	Pathogenic
11	119278316	A	AC	T119278318C	CBL	NM_005188.3(CBL):c.1227+20dup	noncoding	Benign/Likely_benign
11	119278498	C	CT	C119278501T	CBL	NM_005188.4(CBL):c.1228-10dup	noncoding	Benign/Likely_benign
11	119300145	T	TGG	T119300147G	CBL	NM_005188.3(CBL):c.*365_*366insGG	noncoding	Benign
11	119307357	ACT	A	T119307361C	CBL	NM_005188.3(CBL):c.*7580_*7581delTC	noncoding	Benign
11	119339479	G	GC	G119339488C	C1QTNF5	NM_001278431.2(C1QTNF5):c.583dup:p.Ala195fs	coding	Benign
11	119341662	GCAGA	G	C119341667G	MFRP	NM_031433.4(MFRP):c.1618_1621TCTG[1]:p.Val541fs	coding	Pathogenic
11	119342695	CCTGGCAGGAGAGCTCA	C	C119342700G	MFRP	NM_031433.4(MFRP):c.1272_1287del:p.Ser424fs	coding	Pathogenic
11	119342877	CG	C	G119342878T	MFRP	NM_031433.4(MFRP):c.1250del:p.Thr417fs	coding	Pathogenic
11	119342977	T	TG	T119342985G	MFRP	NM_031433.4(MFRP):c.1150dup:p.His384fs	coding	Pathogenic
11	119345431	GC	G	C119345433T	MFRP	NM_031433.4(MFRP):c.629del:p.Gly210fs	coding	Pathogenic
11	119345562	TG	T	G119345569T	MFRP	NM_031433.4(MFRP):c.498del:p.Asn167fs	coding	Pathogenic
11	119345562	T	TG	T119345570G	MFRP	NM_031433.4(MFRP):c.498dup:p.Asn167fs	coding	Pathogenic
11	119345569	G	GA	T119345570A	MFRP	NM_031433.4(MFRP):c.491_492insT:p.Asn167fs	coding	Pathogenic/Likely_pathogenic
11	119345901	GC	G	C119345905A	MFRP	NM_031433.4(MFRP):c.298del:p.Ala100fs	coding	Pathogenic
11	119664967	C	CCCT	A119664993C	NECTIN1	NM_002855.5(NECTIN1):c.1310_1312AGG[9]:p.Glu444dup	coding	Benign
11	119664967	C	CCCTCCT	A119664993C	NECTIN1	NM_002855.5(NECTIN1):c.1310_1312AGG[10]:p.Glu443_Glu444dup	coding	Benign
11	119664967	CCCT	C	C119664990A	NECTIN1	NM_002855.5(NECTIN1):c.1310_1312AGG[7]:p.Glu444del	coding	Benign
11	119675192	T	TA	C119675194A	NECTIN1	NM_002855.5(NECTIN1):c.969dup:p.Thr324fs	coding	Pathogenic
11	119677731	TC	T	C119677734A	NECTIN1	NM_002855.5(NECTIN1):c.556del:p.Glu186fs	coding	Pathogenic
11	121113577	A	AC	A121113580C	TECTA	NM_005422.2(TECTA):c.651dup:p.Asn218fs	coding	Pathogenic
11	121113654	AGGCCGCTG	A	C121113658A	TECTA	NM_005422.2(TECTA):c.730_737del:p.Arg244fs	coding	Pathogenic
11	121118355	C	CT	G121118356T	TECTA	NM_005422.2(TECTA):c.840_841insT:p.Val281fs	coding	Pathogenic
11	121118643	CTGGG	C	G121118646A	TECTA	NM_005422.2(TECTA):c.1131_1134del:p.Ser376_Trp377insTer	coding	Pathogenic
11	121125342	TGG	T	G121125345A	TECTA	NM_005422.2(TECTA):c.1247_1248del:p.Gly416fs	coding	Pathogenic
11	121168679	TAA	T	A121168680T	TECTA	NM_005422.2(TECTA):c.5754_5755del:p.Val1918_Ile1919insTer	coding	Pathogenic
11	121187867	AG	A	G121187869A	TECTA	NM_005422.2(TECTA):c.6037del:p.Glu2013fs	coding	Pathogenic
11	121301298	TA	T	A121301302G	SC5D	NM_006918.5(SC5D):c.-10-2064del	noncoding	Benign
11	121303952	ATTC	A	T121303953A	SC5D	NM_006918.5(SC5D):c.210+368_210+370del	noncoding	Benign
11	123084669	CT	C	T123084670C	CLMP	NM_024769.4(CLMP):c.230del:p.Glu77fs	coding	Pathogenic
11	124874121	GAC	G	C124874129G	ROBO3	NM_022370.4(ROBO3):c.1838_1839CA[3]:p.Thr615fs	coding	Pathogenic
11	124874170	GTT	G	T124874171C	ROBO3	NM_022370.4(ROBO3):c.1886_1887del:p.Val629fs	coding	Pathogenic
11	124876314	C	CG	C124876319G	ROBO3	NM_022370.4(ROBO3):c.2637dup:p.Leu880fs	coding	Pathogenic
11	124878726	ACTCTTACACC	A	T124878730A	ROBO3	NM_022370.4(ROBO3):c.3467_3476del:p.Leu1156fs	coding	Pathogenic
11	124880551	CCGGAGT	C	G124880559A	ROBO3	NM_022370.4(ROBO3):c.4094_4099GGAGTC[1]:p.1363_1364RS[2]	coding	Benign
11	124880556	GT	G	T124880557C	ROBO3	NM_022370.4(ROBO3):c.4098del:p.Arg1367fs	coding	Benign
11	124880558	CGGAGT	C	G124880559C	ROBO3	NM_022370.4(ROBO3):c.4100_4104del:p.Arg1367fs	coding	Benign
11	124919336	A	AAAAC	C124919345A	HEPACAM	NM_152722.5(HEPACAM):c.*1794_*1797GTTT[3]	noncoding	Benign
11	124921408	CG	C	G124921412C	HEPACAM	NM_152722.5(HEPACAM):c.980del:p.Pro327fs	coding	Pathogenic
11	125643863	TCC	T	C125643864A	CHEK1	NM_001114121.2(CHEK1):c.887_888del:p.Gln295_Ser296insTer	coding	Pathogenic
11	125891423	G	GTT	A125891434T	HYLS1	NM_145014.2(HYLS1):c.-121_-120dup	noncoding	Benign
11	125891483	G	GAA	C125891501A	HYLS1	NM_145014.2(HYLS1):c.-81+27_-81+28dup	noncoding	Benign
11	126021208	C	CA	G126021211A	CDON	NM_016952.4(CDON):c.349+38dup	noncoding	Benign
11	126271239	A	AAAGG	G126271240A	FOXRED1	NM_017547.4(FOXRED1):c.86-198_86-197insAAGG	noncoding	Benign
11	126274995	CAG	C	A126274998G	FOXRED1	NM_017547.4(FOXRED1):c.608_609del:p.Glu203fs	coding	Pathogenic
11	128480265	TCCTTG	AA	T128480265A	ETS1	NM_001143820.2(ETS1):c.1044_1049delinsTT:p.Lys349fs	coding	Pathogenic
11	128810619	GAATT	G	A128810621C	FLI1	NM_002017.5(FLI1):c.992_995del:p.Asn331fs	coding	Pathogenic/Likely_pathogenic
11	128838623	C	CTTG	C128838628T	KCNJ1	NM_000220.5(KCNJ1):c.*499_*501dup	noncoding	Benign
11	128839242	A	AG	T128839247G	KCNJ1	NM_000220.5(KCNJ1):c.1058dup:p.His354fs	coding	Pathogenic
11	128839301	CCTTT	C	C128839302G	KCNJ1	NM_153766.3(KCNJ1):c.939_942del:p.Glu315fs	coding	Pathogenic
11	128917106	T	TC	T128917110C	KCNJ5	NM_000890.5(KCNJ5):c.*378dup	noncoding	Benign
11	128917590	GTGTTTTGTTT	G	G128917627T	KCNJ5	NM_000890.5(KCNJ5):c.*861_*865GTTTT[7]	noncoding	Benign
11	130208448	TG	T	G130208449C	ST14	NM_021978.4(ST14):c.2034del:p.Leu678fs	coding	Pathogenic
11	134140741	CAT	C	A134140744G	JAM3	NM_032801.5(JAM3):c.228_229AT[1]:p.Tyr77fs	coding	Pathogenic
11	134144778	C	CCT	T134144779C	JAM3	NM_032801.5(JAM3):c.410-14_410-13insCT	noncoding	Benign
11	134194056	AC	A	C134194057A	NCAPD3	NM_015261.3(NCAPD3):c.1783del:p.Val595fs	coding	Pathogenic
11	134253645	CCTGCCCG	C	C134253646G	ACAD8	NM_014384.2(ACAD8):c.46_52del:p.Leu16fs	coding	Pathogenic
11	134258578	G	GCT	G134258583C	ACAD8	NM_014384.2(ACAD8):c.445_446CT[3]:p.Cys150fs	coding	Pathogenic
12	165530	G	GAGTGTAAGTCTTTGACAGCC	G165566C	IQSEC3	NM_001170738.2(IQSEC3):c.2809+13_2809+32dup	coding	Benign
12	754339	A	ACTT	T754343C	WNK1	NM_018979.4(WNK1):c.759+16_759+18dup	noncoding	Benign
12	754340	C	CTT	A754344T	WNK1	NM_018979.4(WNK1):c.759+18_759+19dup	noncoding	Benign
12	859427	TAG	T	G859435T	WNK1	NM_018979.4(WNK1):c.1585_1586GA[3]:p.Asp531fs	coding	Pathogenic
12	867885	CGT	C	T867889G	WNK1	NM_018979.4(WNK1):c.2140-3376_2140-3375del	coding	Pathogenic
12	868081	TC	T	C868083A	WNK1	NM_018979.4(WNK1):c.2140-3182del	coding	Pathogenic
12	868367	CAG	C	G868369T	WNK1	NM_018979.4(WNK1):c.2140-2896_2140-2895del	coding	Pathogenic
12	868421	GA	G	A868423T	WNK1	NM_018979.4(WNK1):c.2140-2842del	coding	Pathogenic
12	868469	AG	A	G868470A	WNK1	NM_018979.4(WNK1):c.2140-2795del	coding	Pathogenic
12	868745	C	CA	T868748A	WNK1	NM_018979.4(WNK1):c.2140-2518dup	coding	Pathogenic
12	868774	GC	G	C868776T	WNK1	NM_018979.4(WNK1):c.2140-2489del	coding	Pathogenic
12	868892	ATC	A	T868893A	WNK1	NM_018979.4(WNK1):c.2140-2372_2140-2371del	coding	Pathogenic
12	868914	A	AT	C868919T	WNK1	NM_018979.4(WNK1):c.2140-2347dup	coding	Pathogenic
12	868934	A	AC	A868936C	WNK1	NM_018979.4(WNK1):c.2140-2330dup	coding	Pathogenic
12	868962	C	CT	G868964T	WNK1	NM_018979.4(WNK1):c.2140-2302dup	coding	Pathogenic
12	868993	TCAGA	T	A868997T	WNK1	NM_018979.4(WNK1):c.2140-2268_2140-2265del	coding	Pathogenic
12	869017	ACTTTT	A	T869021C	WNK1	NM_018979.4(WNK1):c.2140-2244_2140-2240del	coding	Pathogenic
12	869045	ACATCTCAG	A	T869048G	WNK1	NM_018979.4(WNK1):c.2140-2217_2140-2210del	coding	Pathogenic
12	878260	T	TCACTTTCA	G878271C	WNK1	NM_018979.4(WNK1):c.2275_2282dup:p.Gln761fs	coding	Pathogenic
12	878307	A	AGT	A878311T	WNK1	NM_018979.4(WNK1):c.2321_2322dup:p.Ser775Ter	coding	Pathogenic
12	878367	C	CT	A878383T	WNK1	NM_018979.4(WNK1):c.2373+21dup	noncoding	Benign
12	878367	C	CTT	A878383T	WNK1	NM_018979.4(WNK1):c.2373+20_2373+21dup	noncoding	Benign
12	885406	TAGC	T	C885409T	WNK1	NM_018979.4(WNK1):c.4605_4607del:p.Ser1536del	coding	Benign/Likely_benign
12	1792226	T	TCTC	G1792228T	CACNA2D4	NM_172364.5(CACNA2D4):c.*1428_*1429insGAG	noncoding	Benign
12	1792452	CG	C	G1792458A	CACNA2D4	NM_172364.5(CACNA2D4):c.*1202del	noncoding	Benign
12	1879006	CCACCA	C	A1879011C	CACNA2D4	NM_172364.5(CACNA2D4):c.1589_1593del:p.Val530fs	coding	Pathogenic
12	2549878	TG	T	G2549879C	CACNA1C	NM_000719.7(CACNA1C):c.1391-64del	noncoding	Benign
12	2669106	G	GC	T2669109C	CACNA1C	NM_000719.7(CACNA1C):c.4726+73dup	noncoding	Benign
12	2691850	C	CGCCGCCGGGAAGGG	C2691859G	CACNA1C	NM_000719.7(CACNA1C):c.*652_*659GCC[2]GGGAAGGGGCCGCCGG[1]	noncoding	Benign
12	2696603	CA	C	A2696620G	CACNA1C	NM_000719.7(CACNA1C):c.*5421del	noncoding	Benign
12	4525342	G	GTTGT	T4525345G	C12orf4	NM_020374.4(C12orf4):c.639_640insACAA:p.Gln214fs	coding	Pathogenic/Likely_pathogenic
12	4915137	GCC	G	C4915143G	KCNA1	NM_000217.3(KCNA1):c.*2277_*2278del	noncoding	Benign
12	5045296	TG	CA	T5045296C	KCNA5	NM_002234.4(KCNA5):c.1149_1150inv:p.Gly384Arg	coding	Benign
12	5976171	GGCATCCTCCATGTCGGT	G	T5976175G	VWF	NM_000552.4(VWF):c.7360_7376del:p.Thr2454fs	coding	Pathogenic
12	5981817	CCA	C	C5981820G	VWF	NM_000552.4(VWF):c.7252_7253TG[1]:p.Cys2418fs	coding	Pathogenic
12	6011565	TAAAAGCACTGCCCCTTTGACGCTGCCCTGGCTGGAGAAGCAAAGGACTCACAGGGGCAGGTCCAGCGGCAGCCACAGGTCTCTTCCACTTTAACAGGGGACTGGCTGTTAGGGCACGAAGGCCTCAGCCCCCGGTCACAGTTGACCCGATGACTCTTCAGCAAGGTCTGGCCATCTGGCTGGCAAGTCACGGTGTGGCACTGGTCTGGCAAGGTCCAGACGTCCCCGGGCTGCAGAAGAAAACAGCAGATTCAGGCAGGGAATAAGATGAGGTACTCCAACTCTAAGCCCATCTGCCAGACAACTGACCCCTAGAATTGAACACAGGCCTACACAGCAAGGAGGCCCCCTGTACATGAGACAGGAAGCAAAACACAAGATGTACAGATGGACCCGCAAAAACAAGATAATAGTAAAAGGAAGCACTGGACTAAGACCAAAGGAGGAAAAATTAACCAGTGGGAACAAGAGCCCCAAACACATCTCTAACCTTTCTTTCAAAGTCAACAGAAAGGAACTTACCCTCTTCTCATTCCCATCCTCATCCATGCAAATCCTAACAAATCCTGCAACAGACACAAATAAGACCTTAGTTCCCATCTTTCACCCAGAA	T	A6011567T	VWF	NM_000552.4(VWF):c.5621-47_5842+51del	noncoding	Pathogenic
12	6018964	AC	A	C6018969A	VWF	NM_000552.4(VWF):c.4453del:p.Val1485fs	coding	Pathogenic
12	6019193	CCTT	C	T6019204A	VWF	NM_000552.4(VWF):c.4213_4215AAG[3]:p.Lys1408del	coding	Pathogenic
12	6022792	TG	CA	T6022792C	VWF	NM_000552.4(VWF):c.3485_3486inv:p.Pro1162Leu	coding	Benign
12	6044297	C	CG	C6044304G	VWF	NM_000552.4(VWF):c.2435dup:p.Met814fs	coding	Pathogenic
12	6044297	CG	C	G6044303C	VWF	NM_000552.4(VWF):c.2435del:p.Pro812fs	coding	Pathogenic
12	6052796	G	GGAA	G6052799A	VWF	NM_000552.4(VWF):c.1946-14_1946-13insTCT	noncoding	Benign
12	6052797	G	GAGA	T6052803A	VWF	NM_000552.4(VWF):c.1946-17_1946-15dup	noncoding	Benign/Likely_benign
12	6110321	GAAATAAAAAGCATGGCCACACTTTAGGGAAATGGTATCCCAGAACATCTTACCTTCTTGGGTCATAAAGTCATCTTCAGCAAAGATGTTAAAGTTGCCACACAGCCCGCAGGTCTTGTTGAAGTATCTGTCTGACAGCAGGACTTGAAAGTTGCCGCTGCCATCGATCCTGGCCACAAAGCCATAGGCCTCACCGGACAGCTTGTAGTACCCAGCCTCAGTTTCTAGATACAGCCCTTTGGAGGCATAGGGCATGGAGACTCTGGAGGGCAAAGGCTAAGTTCAGAAGTGGGCTTCTTGTGCATTTTCTGGATGTCTCTCCCACCTTCTAACCCCAACCCCATGTTGTAGGGTTCAGAACATGGTGCAAAGTGGCTGAGGACCTAGATCAGCAATCGGGAGAGCTGGCTCTCACCCAGCCCTGCTACTCACTTCCTTGGAACATTTGCTTCCATTCTCTGGGCCCCAGCTTCCTCATCTAAAAATGAGGGGGTTGTGTCAGGGGATCCCTAGGGTCCTTTCTAACTCAGACATTGTTGGCTTACCTTTGGTCCCCCTGTGTCACGGTACCATTGACAAACAAATGGATGTCAAAAAATTCCCCAAGATACACGGAGAGGCTCACTCTCTTGCCATTCTGGAAGTCCCCTGAAAGAGA	G	T6110325A	VWF	NM_000552.4(VWF):c.221-10_532+52del	noncoding	Pathogenic
12	6123146	C	CA	T6123151A	VWF	NM_000552.4(VWF):c.50dup:p.Leu17fs	coding	Pathogenic
12	6333476	C	CCTGTGTCTTGCA	G6333478T	TNFRSF1A	NM_001065.4(TNFRSF1A):c.362_363insTGCAAGACACAG:p.Asp122_Thr123insAlaArgHisArg	coding	Pathogenic
12	6346853	CAACA	C	A6346858T	SCNN1A;TNFRSF1A	NM_001038.6(SCNN1A):c.*1012_*1015TGTT[1]	noncoding	Benign/Likely_benign
12	6349211	AG	A	G6349212C	SCNN1A	NM_001038.6(SCNN1A):c.1449del:p.Tyr484fs	coding	Pathogenic
12	6354764	T	TTGAAGGG	A6354773G	SCNN1A	NM_001038.6(SCNN1A):c.1221_1227dup:p.Lys410fs	coding	Pathogenic
12	6362048	C	CA	C6362050A	SCNN1A	NM_001038.6(SCNN1A):c.875+2dup	noncoding	Pathogenic
12	6362196	CT	C	T6362197G	SCNN1A	NM_001038.6(SCNN1A):c.729del:p.Val245fs	coding	Pathogenic
12	6363586	GC	AA	G6363586A	SCNN1A	NM_001038.6(SCNN1A):c.540_541delinsTT:p.Arg181Trp	coding	Benign
12	6374579	GGA	G	G6374580T	SCNN1A	NM_001038.6(SCNN1A):c.203_204del:p.Ile68fs	coding	Pathogenic
12	6445525	C	CA	C6445527A	CD27	NM_001242.4(CD27):c.239dup:p.His80fs	coding	Pathogenic
12	6445536	C	CT	G6445538T	CD27	NM_001242.4(CD27):c.250dup:p.Cys84fs	coding	Pathogenic
12	6464889	CT	C	T6464891A	VAMP1	NM_014231.5(VAMP1):c.340del:p.Ile114fs	coding	Pathogenic
12	6466224	CCT	C	T6466226C	VAMP1	NM_014231.5(VAMP1):c.128_129del:p.Glu43fs	coding	Pathogenic
12	6466289	GGGGGACCCCCACCT	G	A6466294C	VAMP1	NM_014231.5(VAMP1):c.51_64del:p.Gly18fs	coding	Pathogenic
12	6557077	C	CA	C6557079A	NOP2	NM_001258308.2(NOP2):c.2354dup:p.Ser786fs	coding	Benign
12	6827125	C	CG	T6827132G	GPR162	NM_019858.2(GPR162):c.1694dup:p.Gly565_Glu566insTer	coding	Benign
12	6843041	CAAG	C	A6843043T	GNB3	NM_002075.4(GNB3):c.170_172del:p.Lys57del	coding	Pathogenic
12	6867593	T	TG	A6867599G	TPI1	NM_000365.6(TPI1):c.32dup:p.Asn12fs	coding	Pathogenic
12	6871328	GAGA	G	A6871331G	SPSB2	NM_032641.4(SPSB2):c.665-12_665-10del	noncoding	Benign
12	6936728	A	ACAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG	T6936776G	ATN1;LOC109461484	NM_001007026.1(ATN1):c.1462CAG[(90_93)]:p.Gln488[(90-93)]	coding	Pathogenic
12	6936728	A	ACAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG	T6936776G	ATN1;LOC109461484	NM_001007026.1(ATN1):c.1462CAG[(49_55)]:p.Gln488[(49-55)]	coding	Pathogenic
12	6936728	A	ACAG	T6936776G	ATN1	NM_001940.4(ATN1):c.1464_1466GCA[16]:p.Gln502dup	coding	Benign
12	6936728	ACAGCAGCAGCAGCAGCAGCAGCAGCAG	A	G6936749T	ATN1;LOC109461484	NM_001007026.1(ATN1):c.1462CAG[(6_35)]:p.Gln488[(6-35)]	coding	Benign
12	6944582	CGT	C	T6944584C	C12orf57	NM_138425.4(C12orf57):c.161_162del:p.Val54fs	coding	Pathogenic
12	6944604	AT	A	T6944605C	C12orf57	NM_138425.4(C12orf57):c.182del:p.Ile61fs	coding	Pathogenic
12	6944654	TGGGTCAGACGCGGGAAGGC	T	T6944677A	C12orf57	NM_138425.4(C12orf57):c.229+25_229+43del	noncoding	Benign/Likely_benign
12	6956576	G	GC	T6956584C	PTPN6	NM_002831.6(PTPN6):c.1074+15dup	noncoding	Benign
12	6965713	CTG	C	G6965715A	PHB2	NM_001144831.2(PHB2):c.873-3_873-2del	coding	Benign
12	6971047	A	AG	C6971050G	EMG1	NM_006331.8(EMG1):c.126dup:p.Leu43fs	coding	Benign
12	7066590	ATGT	A	T7066591G	C1S	NM_001734.5(C1S):c.945_947del:p.Asp315_Val316delinsGlu	coding	Pathogenic
12	7081221	A	AGG	A7081226G	C1R	NM_001733.7(C1R):c.1427_1428dup:p.Trp477fs	coding	Pathogenic
12	7085919	GTAGTACTGGATACGG	TATTACATGA	G7085919T	C1R	NM_001733.7(C1R):c.1200_1215delinsTCATGTAATA:p.Arg401_Tyr405delinsHisValIle	coding	Pathogenic
12	7088721	GCACTTGATGA	TGTCC	G7088721T	C1R	NM_001733.7(C1R):c.917_927delinsGGACA:p.Ile306_Cys309delinsArgThr	coding	Pathogenic
12	7091533	GA	AT	G7091533A	C1R	NM_001733.7(C1R):c.149_150delinsAT:p.Val50Asp	coding	Pathogenic
12	7199209	C	CTT	A7199228T	PEX5	NM_001351132.2(PEX5):c.551+113_551+114dup	noncoding	Benign
12	7202274	C	CA	G7202276A	PEX5	NM_001131024.1(PEX5):c.643-337dup	coding	Pathogenic
12	7209608	G	GCTGAGTCGGTGGAGTAATGTGCAGAGTTTGAT	G7209640T	PEX5	NM_001351132.2(PEX5):c.1561-44_1561-43insTCTGAGTCGGTGGAGTAATGTGCAGAGTTTGA	noncoding	Benign
12	7210106	GAA	TC	G7210106T	PEX5	NM_000319.4(PEX5):c.1779_1781delinsTC:p.Glu593fs	coding	Pathogenic
12	7211347	A	AT	A7211358T	PEX5	NM_001131026.2(PEX5):c.19+1115dup	noncoding	Benign
12	8222185	C	CACG	G8222186A	FAM90A1	NM_018088.3(FAM90A1):c.1031_1032insCGT:p.Ser345_Pro346insVal	coding	Benign
12	8604926	C	CA	G8604940A	AICDA	NM_020661.4(AICDA):c.428-17dup	noncoding	Benign
12	8605456	GAGGAAGAGC	G	G8605458A	AICDA	NM_020661.4(AICDA):c.177_185del:p.Leu59_Leu62delinsPhe	coding	Pathogenic
12	8606980	TGGTAAAGAAACTTCCTCCG	T	G8606982T	AICDA	NM_020661.4(AICDA):c.22_40del:p.Arg8fs	coding	Pathogenic
12	8649314	T	TCTTAGG	G8649315C	MFAP5	NM_003480.4(MFAP5):c.409+186_409+187insCCTAAG	noncoding	Benign
12	8649316	TA	T	A8649317T	MFAP5	NM_003480.4(MFAP5):c.409+184del	noncoding	Benign
12	8650606	CA	C	A8650613T	MFAP5	NM_003480.4(MFAP5):c.248-18del	noncoding	Benign
12	8655766	CAAACA	C	C8655770G	MFAP5	NM_003480.4(MFAP5):c.139+15_139+19del	noncoding	Benign
12	8829787	GGGA	G	G8829795A	A2ML1	NM_144670.6(A2ML1):c.462+9GGA[2]	noncoding	Benign/Likely_benign
12	8839526	C	CT	A8839527T	A2ML1	NM_144670.6(A2ML1):c.1080+304_1080+305insT	noncoding	Benign
12	8839534	TAGA	T	A8839540T	A2ML1	NM_144670.6(A2ML1):c.1080+318_1080+320del	noncoding	Benign
12	8843328	AAG	A	A8843329C	A2ML1	NM_144670.6(A2ML1):c.1444_1445del:p.Ser482fs	coding	Benign
12	8857403	T	TAA	G8857404A	A2ML1	NM_144670.6(A2ML1):c.3025+63_3025+64insAA	noncoding	Benign
12	8857942	G	GT	A8857944T	A2ML1	NM_144670.6(A2ML1):c.3108-3dup	noncoding	Benign
12	8863966	GGC	G	G8863967C	A2ML1	NM_144670.6(A2ML1):c.3676_3677del:p.Ala1226fs	coding	Benign
12	8932728	CGCAGCA	C	G8932741A	PHC1	NM_004426.3(PHC1):c.1272_1274GCA[4]:p.Gln438_Gln439del	coding	Benign
12	9093579	TCTATGGTGAGTGAGGAAGAAGACATTACAATAAACATACAGATAAAGCTTATGAGAGAATGTAATAGTTGCCACCAAAAAAAAAAAACAAAAAACAAATCGTCTGATGAAATAGAGAGGAAGGAGGAGAGGGCGCTTGGGTCATCAAGGAAAGCTTCTTTGAGGAGGAAATATGTTGGTTGACTTAACAAGCCAGGAGAGGCCGGGCGCGGTGGCTCATGCCTGTAATCCCAGCACTTTGAGAGGCCGAGGCCGAGACGGCGCCACTGCACTCCAGCCTGGGCGACCTGAGCGACAGAGTGAGACTTCGTCTCAAACAAACAAACAAACAAACAAACAACAAAAAAAAACAAGAATAAGCTAGGAGTGAGCTGGGGGAGGAGGGTCATAAGCAGAGGCTATAGAGACTTTGGCAGACAGAGGCTTGGATTGTCTGTGGGGCACAAGGACTCTGTGGAGTCCTATGTGGCTGCTGCCGCTGTGCTAAGTGGAGAGTGTTATGACACAAGGCCGTGAAGAGGGGCAGGAATCCAAGTTTCCATTGGTGTGCTCCTCTGCAGGAGCAAGGAAAAACTGACACACATGTTATGACAGTGGCTTTGAGAAACAGTTTACAGGAGGGAAAAGTTTAATAATAATAAAGACTTTTTATTCTCTATCGTGTCAGAAGATTACAGTTAGTTTCCTTCACTCTATTCACCTTCTATTAAGGGTGTGCTGGTCAATATTTCACAACCAGCTCTCTGGAAAAAAAAATTGTGCATATATATATATATATATATATATATATATATATACCTATACATGCATAAATTTACTATATATCTTACTGATAAAGGATTATACAATATAATTTATAAATAATAAAATATGCGGTAGGCTTCATAGTGAATTCCATAGAGCCAACTGATTCTCCTTAAATGCTTTCCTTGATTTTTGACCCTCTTTTCTCTGTACTCAACTTATCCTCAATCATGATTTGACAATATGGGACTATAAATAAATGCTTGATTACTATTCAGTTCATCAAAGAAGTAGCTCATGTCATTGATGAATGTGTGTGGTTCCAACATAAATATTGGCTGATGTTTTGGGGAAGTTGAACAGCTTTTTTACCTGACTGATGGAGAATGTAGTGTTGTTGTGTGAACATTTCTATTTCTGTTTACACTAATCCTACGCTTGGAAACTTTCTCTTTCCTTTCAGCCTAACACATGTACCTCCATTTACTAGAATTTGAGTTTATATTACTATATGACCTTGAGCAATAACCTTAATATGTATGACTCACATGTCCTTTTTGTTTGTTAATTTTTGTCACATTGTATCTTTTAAAAAATTTAAAATTTGGTGAATATATTAGGCAATATATATTTATTAATTTTTTGTTTAC	T	T9093581A	A2M	NM_000014.5(A2M):c.2125+1_2126-1del	coding	Benign
12	9093580	CTATGG	C	A9093582G	A2M	NM_000014.5(A2M):c.2126-6_2126-2del	noncoding	Benign
12	10415650	T	TAA	T10415651A	KLRC3	NM_002261.3(KLRC3):c.678+53_678+54insTT	coding	Benign
12	10415652	TTA	T	A10415654C	KLRC3	NM_002261.3(KLRC3):c.678+50_678+51del	coding	Benign
12	11869573	CT	C	T11869574G	ETV6	NM_001987.4(ETV6):c.614del:p.Leu205fs	coding	Pathogenic
12	11885920	AAACAG	A	G11885930A	ETV6	NM_001987.4(ETV6):c.1153-5_1153-1del	noncoding	Pathogenic
12	11890994	A	AGGG	C11890995G	ETV6	NM_001987.4(ETV6):c.1307_1308insGGG:p.His436delinsGlnGly	coding	Pathogenic
12	12121374	AG	A	G12121377T	LRP6	NM_002336.3(LRP6):c.4593del:p.Cys1532fs	coding	Pathogenic
12	12124669	GA	G	A12124676T	LRP6	NM_002336.3(LRP6):c.4450-8del	noncoding	Benign
12	12158953	C	CGTGG	C12158954G	LRP6	NM_002336.3(LRP6):c.2666_2667insCCAC:p.Trp890fs	coding	Pathogenic
12	12162246	C	CAA	C12162251A	LRP6	NM_002336.3(LRP6):c.2224_2225dup:p.Leu742fs	coding	Pathogenic
12	12164545	C	CA	G12164547A	LRP6	NM_002336.3(LRP6):c.1779dup:p.Glu594Ter	coding	Pathogenic
12	12477747	TGGGC	T	G12477748A	DUSP16	NM_030640.3(DUSP16):c.1080_1083del:p.Pro361fs	coding	Benign
12	12717383	CCCTT	C	T12717386A	CDKN1B	NM_004064.4(CDKN1B):c.-454_-451del	noncoding	Pathogenic
12	12717886	TGGAC	T	G12717888C	CDKN1B	NM_004064.4(CDKN1B):c.49_52del:p.Asp17fs	coding	Pathogenic
12	12717896	G	GCAGGCGGAGCACCCCAAGC	C12717917A	CDKN1B	NM_004064.4(CDKN1B):c.59_77dup:p.Ser27fs	coding	Pathogenic
12	12717939	GGCCC	G	C12717941G	CDKN1B	NM_004064.5(CDKN1B):c.102_105del:p.Pro35fs	coding	Pathogenic
12	12717986	CAG	C	G12717990C	CDKN1B	NM_004064.4(CDKN1B):c.149_150GA[1]:p.Asp51fs	coding	Pathogenic/Likely_pathogenic
12	12718016	G	GT	G12718018T	CDKN1B	NM_004064.5(CDKN1B):c.178dup:p.Trp60fs	coding	Pathogenic
12	12718051	AG	A	G12718054C	CDKN1B	NM_004064.4(CDKN1B):c.215del:p.Gly72fs	coding	Pathogenic
12	12718063	A	AGTGGCAAGAG	A12718078C	CDKN1B	NM_004064.5(CDKN1B):c.229_238dup:p.Glu80fs	coding	Pathogenic
12	12718107	A	AG	A12718109G	CDKN1B	NM_004064.5(CDKN1B):c.269dup:p.Pro91fs	coding	Pathogenic
12	12718118	G	GC	A12718125C	CDKN1B	NM_004064.4(CDKN1B):c.285dup:p.Lys96fs	coding	Pathogenic
12	12718120	C	CT	C12718121T	CDKN1B	NM_004064.5(CDKN1B):c.281_282insT:p.Lys96fs	coding	Pathogenic
12	12718158	CA	C	A12718159G	CDKN1B	NM_004064.5(CDKN1B):c.320del:p.Gln107fs	coding	Pathogenic
12	12718210	ACT	A	C12718213G	CDKN1B	NM_004064.4(CDKN1B):c.372_373CT[1]:p.Asn124_Ser125insTer	coding	Pathogenic
12	13563068	AGT	A	T13563070G	GRIN2B	NM_000834.4(GRIN2B):c.4168_4169del:p.Thr1390fs	coding	Pathogenic
12	13563285	GC	G	C13563287A	GRIN2B	NM_000834.5(GRIN2B):c.3952del:p.Ala1318fs	coding	Pathogenic
12	13563532	T	TGCCC	A13563538C	GRIN2B	NM_000834.5(GRIN2B):c.3702_3705dup:p.Arg1236fs	coding	Pathogenic
12	13567062	CA	C	A13567063G	GRIN2B	NM_000834.4(GRIN2B):c.2560del:p.Cys854fs	coding	Pathogenic
12	13570026	GA	G	A13570032G	GRIN2B	NM_000834.4(GRIN2B):c.2172-10del	noncoding	Benign/Likely_benign
12	13571935	AG	A	G13571940T	GRIN2B	NM_000834.4(GRIN2B):c.2039del:p.Pro680fs	coding	Pathogenic
12	13571960	TGGAACTGGAGAGAGAAAGACAGATAGAGACAGAGCG	T	A13571964G	GRIN2B	NM_000834.5(GRIN2B):c.2011-32_2014del	coding	Pathogenic
12	13611722	TA	AC	T13611722A	GRIN2B	NM_000834.4(GRIN2B):c.1780+2_1780+3delinsGT	noncoding	Pathogenic
12	13615546	TGGTAACCA	T	C13615552A	GRIN2B	NM_000834.5(GRIN2B):c.1439_1446del:p.Leu480fs	coding	Pathogenic
12	13615549	T	TAACC	G13615555A	GRIN2B	NM_000834.4(GRIN2B):c.1440_1443dup:p.Thr482fs	coding	Pathogenic
12	13616531	T	TG	A13616533G	GRIN2B	NM_000834.5(GRIN2B):c.1251dup:p.Ile418fs	coding	Pathogenic
12	13675781	CA	C	A13675782C	GRIN2B	NM_000834.5(GRIN2B):c.1088del:p.Val363fs	coding	Pathogenic
12	13753487	TAC	T	C13753489G	GRIN2B	NM_000834.4(GRIN2B):c.838_839del:p.Val280fs	coding	Pathogenic
12	13753522	CTG	C	G13753526C	GRIN2B	NM_000834.4(GRIN2B):c.801_802CA[1]:p.Thr268fs	coding	Pathogenic
12	13866109	T	TG	C13866117G	GRIN2B	NM_000834.4(GRIN2B):c.99dup:p.Ser34fs	coding	Pathogenic/Likely_pathogenic
12	14625894	A	AT	G14625902T	GUCY2C	NM_004963.4(GUCY2C):c.2270dup:p.Asn757fs	coding	Pathogenic
12	14628744	G	GA	C14628754A	GUCY2C	NM_004963.4(GUCY2C):c.2158-16dup	noncoding	Benign
12	14681487	GA	G	A14681492G	GUCY2C	NM_004963.4(GUCY2C):c.612-11del	noncoding	Benign
12	14787431	A	AG	C14787439G	WBP11	NM_016312.3(WBP11):c.1559dup:p.Gly521fs	coding	Pathogenic
12	14884253	T	TA	G14884264A	MGP	NM_000900.5(MGP):c.62-18dup	noncoding	Benign
12	14885748	AC	A	C14885750G	MGP	NM_000900.5(MGP):c.43del:p.Ala14_Val15insTer	coding	Pathogenic
12	15623289	TA	T	A15623302G	EPS8	NM_004447.6(EPS8):c.2226-3del	noncoding	Benign/Likely_benign
12	15623289	T	TA	G15623303A	EPS8	NM_004447.6(EPS8):c.2226-15dup	noncoding	Benign
12	15650808	TA	T	A15650818C	EPS8	NM_004447.6(EPS8):c.1434+14del	noncoding	Benign
12	15681305	G	GTAA	T15681338A	EPS8	NM_004447.6(EPS8):c.60-33TTA[11]	noncoding	Benign/Likely_benign
12	15681305	G	GTAATAA	T15681338A	EPS8	NM_004447.6(EPS8):c.60-33TTA[12]	noncoding	Benign
12	15681305	GTAA	G	A15681335T	EPS8	NM_004447.6(EPS8):c.60-33TTA[9]	noncoding	Benign
12	15681305	GTAATAA	G	A15681332T	EPS8	NM_004447.6(EPS8):c.60-33TTA[8]	noncoding	Benign/Likely_benign
12	18085682	TATAG	T	A18085689T	RERGL	NM_001286201.1(RERGL):c.113_116CTAT[1]:p.Tyr40fs	coding	Benign
12	20815731	GTTTA	G	T20815732A	SLCO1B3	NM_019844.4(SLCO1B3):c.-7_-4del	noncoding	Benign
12	20916594	T	TA	T20916603A	SLCO1B3	NM_019844.4(SLCO1B3):c.*355dup	noncoding	Benign
12	21174718	T	TAA	C21174733A	SLCO1B1	NM_006446.4(SLCO1B1):c.359+10[16]	noncoding	Benign/Likely_benign
12	21467523	G	GCAAA	G21467528C	PYROXD1	NM_024854.5(PYROXD1):c.1160_1163dup:p.Lys388fs	coding	Pathogenic
12	21470348	T	TA	C21470350A	RECQL	NM_002907.4(RECQL):c.1798-3dup	coding	Benign
12	21471798	GGCTATT	G	G21471799C	RECQL	NM_002907.4(RECQL):c.1448-157_1448-152del	noncoding	Benign
12	21477059	A	AC	T21477061C	RECQL	NM_002907.4(RECQL):c.868-68dup	noncoding	Benign
12	21491612	C	CT	C21491622T	RECQL	NM_002907.4(RECQL):c.120dup:p.Val41fs	coding	Pathogenic
12	21560473	GT	G	T21560474G	GYS2	NM_021957.4(GYS2):c.1081del:p.Thr361fs	coding	Pathogenic/Likely_pathogenic
12	21563005	GAACAAAGTCTTTTCAAGATCAAAGTCGAGATGACTAAAACAAAACAAAACCAAACAGTTTCAAATGAAATACAGC	G	A21563010G	GYS2	NM_021957.4(GYS2):c.942-42_974del	coding	Pathogenic
12	21575895	CA	C	A21575898T	GYS2	NM_021957.4(GYS2):c.465del:p.Phe155fs	coding	Pathogenic
12	21575903	AG	A	G21575904C	GYS2	NM_021957.4(GYS2):c.457del:p.Met152_Leu153insTer	coding	Pathogenic
12	21580503	TCACAGTATAGATGCCTCCAACTGTTAAA	T	C21580504A	GYS2	NM_021957.4(GYS2):c.122-8_141del	coding	Pathogenic
12	21647017	CTG	C	G21647019A	LDHB	NM_002300.7(LDHB):c.130-3_130-2del	noncoding	Benign/Likely_benign
12	21806064	CAA	C	A21806075G	ABCC9	NM_005691.3(ABCC9):c.4450-6_4450-5del	noncoding	Benign
12	21806064	CA	C	A21806076G	ABCC9	NM_020297.3(ABCC9):c.4450-5del	noncoding	Benign/Likely_benign
12	21806064	C	CA	G21806077A	ABCC9	NM_005691.3(ABCC9):c.4450-16dup	noncoding	Benign
12	21851902	GC	G	C21851903A	ABCC9	NM_005691.3(ABCC9):c.2769+194del	noncoding	Benign
12	21863070	GA	G	A21863081C	ABCC9	NM_005691.3(ABCC9):c.2238-17del	noncoding	Benign/Likely_benign
12	21863282	AAGTTTGGTTTTCTACACTGAAGAAGTGTTTTATGGTCTAAACAACT	A	G21863284A	ABCC9	NM_005691.3(ABCC9):c.2238-274_2238-229del	noncoding	Benign
12	21887938	C	CA	C21887945A	ABCC9	NM_005691.3(ABCC9):c.1803-10dup	noncoding	Benign
12	21888110	GGACAGAGGGGTT	G	G21888111T	ABCC9	NM_005691.3(ABCC9):c.1803-188_1803-177del	noncoding	Benign
12	21910317	CA	C	A21910331G	ABCC9	NM_005691.3(ABCC9):c.1165-6del	noncoding	Benign/Likely_benign
12	21913072	GA	G	A21913082G	ABCC9	NM_005691.3(ABCC9):c.817-7del	noncoding	Benign/Likely_benign
12	21913083	GA	G	A21913093C	ABCC9	NM_005691.3(ABCC9):c.817-18del	noncoding	Benign
12	21913083	G	GA	C21913094A	ABCC9	NM_005691.3(ABCC9):c.817-27dup	noncoding	Benign
12	21936517	A	AT	A21936519T	ABCC9	NM_005691.3(ABCC9):c.142+15dup	noncoding	Benign/Likely_benign
12	22062440	T	TATC	T22062444A	CMAS	NM_018686.6(CMAS):c.1114+7_1114+9dup	noncoding	Benign
12	23543322	GT	G	T23543324C	SOX5	NM_006940.6(SOX5):c.1659del:p.Glu553fs	coding	Pathogenic
12	23563280	A	AG	A23563282G	SOX5	NM_006940.6(SOX5):c.1465dup:p.Leu489fs	coding	Pathogenic
12	23640869	TG	T	G23640872A	SOX5	NM_006940.6(SOX5):c.959del:p.Pro320fs	coding	Pathogenic
12	23734745	CTT	C	T23734746G	SOX5	NM_006940.6(SOX5):c.747_748del:p.Arg250fs	coding	Pathogenic
12	23846058	T	TG	C23846060G	SOX5	NM_006940.6(SOX5):c.405dup:p.Lys136fs	coding	Pathogenic
12	25209828	TTTC	T	C25209834T	KRAS	NM_033360.4(KRAS):c.*82_*84GAA[1]	coding	Benign
12	25245353	G	GGCC	C25245354G	KRAS	NM_033360.4(KRAS):c.31_32insGGC:p.Ala11delinsGlyPro	coding	Pathogenic
12	25245355	T	TCCA	A25245359C	KRAS	NM_033360.4(KRAS):c.27_29dup:p.Gly10dup	coding	Pathogenic
12	25250908	CGCCGCCGCG	C	G25250917C	KRAS	NM_033360.4(KRAS):c.-178_-170del	noncoding	Benign
12	26925858	GA	G	A26925859G	INTS13	NM_018164.3(INTS13):c.585-8del	noncoding	Benign
12	31103726	CAGA	C	A31103729G	DDX11	NM_030653.4(DDX11):c.2689_2691del:p.Lys897del	coding	Pathogenic
12	32582377	AG	A	G32582381C	FGD4	NM_139241.3(FGD4):c.514del:p.Ala172fs	coding	Pathogenic
12	32598535	AC	A	C32598536T	FGD4	NM_139241.3(FGD4):c.640del:p.Leu214fs	coding	Pathogenic
12	32602274	CAG	C	G32602276A	FGD4	NM_139241.3(FGD4):c.952_953del:p.Glu318fs	coding	Pathogenic
12	32602314	TC	T	C32602315A	FGD4	NM_139241.3(FGD4):c.991del:p.Gln331fs	coding	Pathogenic
12	32608004	AC	A	C32608006T	FGD4	NM_139241.3(FGD4):c.1043del:p.Pro348fs	coding	Pathogenic
12	32619753	TCA	T	C32619756G	FGD4	NM_139241.3(FGD4):c.1395_1396CA[1]:p.Thr466fs	coding	Pathogenic
12	32633649	TCA	T	C32633652G	FGD4	NM_001304481.1(FGD4):c.2118_2119CA[1]:p.Thr707fs	coding	Pathogenic
12	32633660	GAAGAA	G	A32633674G	FGD4	NM_001304481.1(FGD4):c.2132_2136AAAAG[2]:p.Lys715fs	coding	Pathogenic
12	32633660	G	GAAGAA	G32633679A	FGD4	NM_139241.3(FGD4):c.1877_1881AAAAG[4]:p.Gly631fs	coding	Pathogenic
12	32640442	T	TA	G32640444A	FGD4	NM_139241.3(FGD4):c.2211dup:p.Ala738fs	coding	Pathogenic
12	32643459	ACTAT	A	T32643461A	FGD4	NM_139241.3(FGD4):c.*2928_*2931del	noncoding	Benign
12	32643669	AT	A	T32643681A	FGD4	NM_139241.3(FGD4):c.*3148del	noncoding	Benign
12	32644888	C	CA	T32644903A	FGD4	NM_139241.3(FGD4):c.*4369dup	noncoding	Benign
12	32705834	C	CA	T32705836A	DNM1L	NM_012062.5(DNM1L):c.251-1532dup	coding	Pathogenic
12	32708199	CAG	C	G32708201A	DNM1L	NM_012062.5(DNM1L):c.346_347del:p.Glu116fs	coding	Pathogenic
12	32720685	C	CAA	G32720688A	DNM1L	NM_012062.5(DNM1L):c.763_764dup:p.Lys256fs	coding	Pathogenic
12	32740389	TC	T	C32740394T	DNM1L	NM_012062.5(DNM1L):c.1885-15del	noncoding	Benign
12	32743228	ATT	A	T32743229G	DNM1L	NM_012062.5(DNM1L):c.2155-125_2155-124del	noncoding	Benign
12	32750046	A	ACTCCTGATCAGACATGAC	A32750069T	YARS2	NM_001040436.3(YARS2):c.1147_1164dup:p.Val383_Glu388dup	coding	Pathogenic
12	32754022	CT	C	T32754025G	YARS2	NM_001040436.3(YARS2):c.842del:p.Lys281fs	coding	Pathogenic
12	32755515	T	TC	A32755519C	YARS2	NM_001040436.3(YARS2):c.359dup:p.Asp121fs	coding	Pathogenic
12	32792666	TC	T	C32792668G	PKP2	NM_004572.3(PKP2):c.2554del:p.Glu852fs	coding	Pathogenic
12	32792711	CT	C	T32792713G	PKP2	NM_001005242.2(PKP2):c.2377del:p.Ser793fs	coding	Pathogenic/Likely_pathogenic
12	32796035	CA	C	A32796036C	PKP2	NM_004572.3(PKP2):c.2489+73del	noncoding	Benign
12	32796095	A	AG	C32796096G	PKP2	NM_001005242.3(PKP2):c.2357+13_2357+14insC	noncoding	Benign/Likely_benign
12	32796174	C	CT	G32796176T	PKP2	NM_001005242.3(PKP2):c.2291dup:p.Asn765fs	coding	Pathogenic
12	32796183	GT	G	T32796187G	PKP2	NM_001005242.3(PKP2):c.2282del:p.Asn761fs	coding	Pathogenic
12	32796189	GA	G	A32796190T	PKP2	NM_001005242.3(PKP2):c.2276del:p.Ile759fs	coding	Pathogenic
12	32796212	AG	A	G32796214C	PKP2	NM_004572.3(PKP2):c.2385del:p.Cys796fs	coding	Pathogenic
12	32796260	CAGGA	ACTG	C32796260A	PKP2	NM_001005242.3(PKP2):c.2202_2206delinsCAGT:p.Pro735fs	coding	Pathogenic/Likely_pathogenic
12	32796284	GGA	G	A32796288T	PKP2	NM_001005242.3(PKP2):c.2180_2181del:p.Leu727fs	coding	Pathogenic/Likely_pathogenic
12	32796296	TG	T	G32796298C	PKP2	NM_004572.3(PKP2):c.2301del:p.Glu769fs	coding	Pathogenic
12	32796308	GA	G	A32796318C	PKP2	NM_004572.3(PKP2):c.2300-11del	noncoding	Benign/Likely_benign
12	32796308	G	GA	C32796319A	PKP2	NM_004572.3(PKP2):c.2300-20dup	noncoding	Benign/Likely_benign
12	32796317	AAC	A	C32796319A	PKP2	NM_004572.3(PKP2):c.2300-21_2300-20del	noncoding	Benign
12	32796318	AC	A	C32796319A	PKP2	NM_004572.3(PKP2):c.2300-21del	noncoding	Benign
12	32802420	GAA	G	A32802422G	PKP2	NM_004572.3(PKP2):c.2280_2281del:p.Leu762fs	coding	Pathogenic
12	32802499	GGGTGT	C	G32802499C	PKP2	NM_001005242.2(PKP2):c.2066_2071delinsG:p.His689fs	coding	Pathogenic
12	32802499	GGGTGT	G	G32802501C	PKP2	NM_004572.3(PKP2):c.2198_2202del:p.His733fs	coding	Pathogenic
12	32802500	GGTGTG	C	G32802500C	PKP2	NM_001005242.3(PKP2):c.2065_2070delinsG:p.His689fs	coding	Pathogenic
12	32821418	GGA	TTTTGGCGAT	G32821418T	PKP2	NM_001005242.2(PKP2):c.1949_1951delinsATCGCCAAAA:p.Val650fs	coding	Pathogenic
12	32821487	TG	T	G32821491T	PKP2	NM_004572.3(PKP2):c.2013del:p.Lys672fs	coding	Pathogenic
12	32822482	G	GCTTC	G32822487C	PKP2	NM_004572.3(PKP2):c.1952_1955dup:p.Ser652fs	coding	Pathogenic
12	32822534	CG	C	G32822536T	PKP2	NM_004572.3(PKP2):c.1903del:p.Arg635fs	coding	Pathogenic
12	32822536	GT	G	T32822540G	PKP2	NM_004572.3(PKP2):c.1901del:p.Asn634fs	coding	Pathogenic
12	32822616	C	CA	C32822618A	PKP2	NM_001005242.3(PKP2):c.1689dup:p.Val564fs	coding	Pathogenic/Likely_pathogenic
12	32824047	TG	T	G32824048T	PKP2	NM_004572.3(PKP2):c.1803del:p.Asp601fs	coding	Pathogenic
12	32824051	AT	A	T32824052C	PKP2	NM_004572.3(PKP2):c.1799del:p.Asp600fs	coding	Pathogenic
12	32824090	GA	G	A32824091C	PKP2	NM_004572.3(PKP2):c.1760del:p.Val587fs	coding	Pathogenic/Likely_pathogenic
12	32824093	CA	C	A32824094G	PKP2	NM_004572.3(PKP2):c.1757del:p.Leu586fs	coding	Pathogenic
12	32824122	T	TCATC	G32824127C	PKP2	NM_004572.3(PKP2):c.1725_1728dup:p.Arg577fs	coding	Pathogenic
12	32824169	G	GA	C32824176A	PKP2	NM_001005242.3(PKP2):c.1557-13dup	noncoding	Benign/Likely_benign
12	32841038	C	CA	G32841040A	PKP2	NM_004572.3(PKP2):c.1677dup:p.Gly560Trpfs	coding	Pathogenic/Likely_pathogenic
12	32841051	GA	G	A32841053T	PKP2	NM_004572.3(PKP2):c.1664del:p.Phe555fs	coding	Pathogenic
12	32841072	AC	A	C32841074A	PKP2	NM_004572.3(PKP2):c.1643del:p.Gly548fs	coding	Pathogenic
12	32841109	GA	G	A32841113G	PKP2	NM_004572.3(PKP2):c.1606del:p.Ser536fs	coding	Pathogenic
12	32841136	AG	A	G32841137C	PKP2	NM_004572.3(PKP2):c.1579del:p.Thr526_Leu527insTer	coding	Pathogenic
12	32841149	C	CT	C32841152T	PKP2	NM_004572.3(PKP2):c.1566dup:p.Ala523fs	coding	Pathogenic
12	32841173	GT	G	T32841176G	PKP2	NM_004572.3(PKP2):c.1542del:p.Lys514fs	coding	Pathogenic
12	32841175	TTGTCATTAGA	T	T32841178A	PKP2	NM_004572.3(PKP2):c.1531_1540del:p.Ser511fs	coding	Pathogenic
12	32850891	GC	G	C32850895A	PKP2	NM_004572.3(PKP2):c.1252del:p.Ala418fs	coding	Pathogenic/Likely_pathogenic
12	32850932	T	TA	G32850934A	PKP2	NM_001005242.3(PKP2):c.1211dup:p.Val406fs	coding	Pathogenic
12	32850934	GGAGCTGCA	G	G32850937A	PKP2	NM_004572.3(PKP2):c.1202_1209del:p.Leu401fs	coding	Pathogenic
12	32868964	TGTATGAAA	T	T32868968G	PKP2	NM_004572.3(PKP2):c.1125_1132del:p.Phe376fs	coding	Pathogenic
12	32868968	T	TG	A32868970G	PKP2	NM_001005242.3(PKP2):c.1128dup:p.Ile377fs	coding	Pathogenic
12	32868983	CAG	AA	C32868983A	PKP2	NM_004572.3(PKP2):c.1112_1114delinsTT:p.Ser371fs	coding	Pathogenic
12	32877892	CA	C	A32877893C	PKP2	NM_001005242.3(PKP2):c.987del:p.Ser329fs	coding	Pathogenic
12	32877928	GC	G	C32877929G	PKP2	NM_004572.3(PKP2):c.951del:p.His318fs	coding	Pathogenic
12	32877928	G	GCGCTCTCCTCCCGCTGGAATCCA	G32877954C	PKP2	NM_004572.3(PKP2):c.929_951dup:p.His318fs	coding	Pathogenic
12	32878041	ACG	A	C32878042G	PKP2	NM_004572.3(PKP2):c.837_838del:p.Val280fs	coding	Pathogenic/Likely_pathogenic
12	32878068	A	ACCTGCCCGACAGTGAGC	G32878092C	PKP2	NM_004572.3(PKP2):c.795_811dup:p.Val271fs	coding	Pathogenic
12	32878204	CAG	C	A32878207C	PKP2	NM_001005242.2(PKP2):c.672_673CT[1]:p.Ser225fs	coding	Pathogenic
12	32878256	TG	T	G32878257T	PKP2	NM_004572.3(PKP2):c.623del:p.Thr208fs	coding	Pathogenic
12	32878346	C	CA	G32878348A	PKP2	NM_004572.3(PKP2):c.533dup:p.His179fs	coding	Pathogenic/Likely_pathogenic
12	32878941	AG	A	G32878943A	PKP2	NM_004572.3(PKP2):c.314del:p.Pro105fs	coding	Pathogenic
12	32878978	ACCAAG	A	C32878979T	PKP2	NM_004572.3(PKP2):c.273_277del:p.His91_Leu92insTer	coding	Pathogenic
12	32878981	AAGTGTAGGTTGTAGACATACTCAGGAACACTGCTGGTTCGGTGAAGATTTCCTGCAATCAAGCAAATATTAAAATAACTCAGAATACAAGTAGGCTAATTAATATTTACAGACTGTATAACAATGATGTATTAAACTTTTAAATTTAAGTAATGAAGGCCAAGAACAAGTATTAAACGTACGTTAATGTTTTTAAATGCTAGTTTCACACCACCCTGGGATATGGCAAGTGATCAAAGGTTATCAAAACATTCTCTACAAAAGTTTTTCAGCTGGGTGTGGTGGCGCACGCCTCTTATCCCAGCACTCTGGGAGGCAGAGGCAGGTGGATCACCTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGCGAAACCCATCTCTACTAAACATACAAAAATTAGCTGGGCATAGTGGCGGGCATCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCACTTGAACTCGGGAGACAGAGGTTGCAGTGAGCCAAGATCACACAATTGCACTCCAGCCTGGGCAACAAAAGTGAAACTCTGTCTCAAAAAGAAAGTTTTGGCTGGGCACGGTGGCTTACACCTGTAATCCCAGAACTTTGAGAGGCAGAGGTGGGTGGATCACCCGAGGTCAGGCATTCAAGAGCAGCCTGGCCAACATGGTGAAAGCCCCTCTCTACTAAAACTACAAAAAATTAGCTGTGCGTGGTGGCAGGCACCTGTAATCCCAACTATTCGGGAGGCTGTGGCAGGAGAATCGCTTGAACCCAGGAGGTGGAGGTTGCAGTGAAGCTGAGATTGCGCCATTGCACTACAGCCTGAGCAACAAGAGTGAAACTCTGTCTCAAAAAAAAAAAAAAAAAGTTTTCAAAATGAAAGTTGAATTTAAAAAAAGAAAAAGAAGGGAGAGGAAATTCACAAAAATCTAAAAATGTTTGGTTGTTATAGTGCTGAAAAATTTGGGACTCATTGTCTGGTTTAGCTGGTCGAGACTATAAAATTCAGTTTCCCGAGTCACAGAACTCTGTTCCCAAGGCAGGAATTCGGAAGCTTCTTGTAATAAGCAGGTGTAGGCAATAAATATAATGGTGACTCAGCACTACTAGATAAGACAGCTTGTATAAACAACAGGATAGGCCGGGCGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGCGGATCATGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAACCGGTCTCTCCTAAAAATACAAAAATTAGTCGGGGGTGGTGGTGGGCGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGCAGAGGTTGCAGTGAGCCGAGATAGCGCCACTGCACTCCAGCCAGGGCGACAGAGCAAGACTCCTGTCTCAAAAAAACAAAAACAAAAGCAAGAAAAACAACAGGGTAGATCAGCATGATCAAGGGAAACATGGATCAACTTCAGGCCAATGCTGGGGTTGAGATATTTGGCAACAGGAGAGTTAGGCAGGAAAGGAAATCAACCTCTATGCTCCATCCAAATGGCTGCTTTTGTGGAATCACCTGGCCCCTCTTTTGTTTGGTGGTCTAATAGCCAGCCCACTCTCATGAAAACACAGACAGCAGCCAGCCCTTTGTGCTCAGCTCTGTGAAGCCTACAG	A	A32878982G	PKP2	NM_004572.3(PKP2):c.224-1639_274del	coding	Pathogenic
12	32878998	A	AT	A32879000T	PKP2	NM_004572.3(PKP2):c.257dup:p.Tyr86Ter	coding	Pathogenic
12	32878999	TACTC	T	C32879001G	PKP2	NM_004572.3(PKP2):c.253_256del:p.Glu85fs	coding	Pathogenic/Likely_pathogenic
12	32878999	T	TA	C32879001A	PKP2	NM_004572.3(PKP2):c.256dup:p.Tyr86fs	coding	Pathogenic
12	32879015	TG	T	G32879017T	PKP2	NM_004572.3(PKP2):c.240del:p.Ser81fs	coding	Pathogenic
12	32896513	G	GC	A32896517C	PKP2	NM_001005242.3(PKP2):c.218dup:p.Asn74fs	coding	Pathogenic
12	32896566	TCCGCAGGCTCTTGACTGTCTGG	T	A32896571C	PKP2	NM_001005242.3(PKP2):c.144_165del:p.Gln49fs	coding	Pathogenic
12	32896578	TGA	T	G32896579C	PKP2	NM_001005242.3(PKP2):c.152_153del:p.Val51fs	coding	Pathogenic
12	32896580	ACTGT	A	T32896584G	PKP2	NM_001005242.2(PKP2):c.148_151del:p.Thr50fs	coding	Pathogenic
12	32896663	TC	T	C32896666A	PKP2	NM_004572.3(PKP2):c.68del:p.Gly23fs	coding	Pathogenic
12	32896717	GC	G	C32896719G	PKP2	NM_004572.3(PKP2):c.14del:p.Gly5fs	coding	Pathogenic/Likely_pathogenic
12	39293733	GA	G	A39293748T	KIF21A	NM_001173464.2(KIF21A):c.*690del	noncoding	Benign
12	39368037	CA	C	A39368044T	KIF21A	NM_001173464.2(KIF21A):c.451-6del	noncoding	Benign
12	40287340	C	CT	A40287343T	LRRK2	NM_198578.4(LRRK2):c.2501-9dup	noncoding	Benign
12	40287341	T	TTA	T40287345A	LRRK2	NM_198578.4(LRRK2):c.2501-8_2501-7dup	noncoding	Benign
12	40302773	AT	A	T40302781C	LRRK2	NM_198578.4(LRRK2):c.3497-8del	noncoding	Benign/Likely_benign
12	40918756	C	CT	C40918760T	CNTN1	NM_001843.4(CNTN1):c.215dup:p.Val74fs	coding	Pathogenic
12	40924881	C	CAT	G40924899T	CNTN1	NM_001843.4(CNTN1):c.496+230AT[9]	noncoding	Benign
12	40933763	C	CT	C40933765T	CNTN1	NM_001843.4(CNTN1):c.871dup:p.Ser291fs	coding	Pathogenic
12	40936764	TG	T	G40936765T	CNTN1	NM_001843.4(CNTN1):c.986-16del	noncoding	Benign
12	40936866	GC	G	C40936869A	CNTN1	NM_001843.4(CNTN1):c.1074del:p.Ile359fs	coding	Pathogenic
12	40939247	T	TA	G40939250A	CNTN1	NM_001843.4(CNTN1):c.1229-86dup	noncoding	Benign
12	40971543	CT	C	T40971555A	CNTN1	NM_001843.4(CNTN1):c.1805-9354del	coding	Benign
12	41020417	GA	G	A41020423T	CNTN1	NM_001843.4(CNTN1):c.2506del:p.Lys835_Ile836insTer	coding	Pathogenic
12	42469834	A	AC	A42469835C	PRICKLE1	NM_153026.3(PRICKLE1):c.247-248_247-247insG	noncoding	Benign
12	43768228	T	TA	C43768235A	IRAK4	NM_016123.4(IRAK4):c.123dup:p.Pro42fs	coding	Pathogenic
12	43771278	TG	T	G43771282C	IRAK4	NM_001145256.1(IRAK4):c.-65-898del	coding	Pathogenic
12	43772943	GA	G	A43772945T	IRAK4	NM_016123.4(IRAK4):c.524del:p.Asn175fs	coding	Pathogenic
12	43773040	AAC	A	C43773044A	IRAK4	NM_016123.4(IRAK4):c.623_624del:p.Thr208fs	coding	Pathogenic
12	43777693	AG	A	G43777694T	IRAK4	NM_016123.4(IRAK4):c.781del:p.Val261fs	coding	Pathogenic
12	43777733	CT	C	T43777734C	IRAK4	NM_016123.3(IRAK4):c.821del:p.Leu274fs	coding	Pathogenic
12	43778225	ATGCAAGATTGCTCAGGG	A	A43778230G	IRAK4	NM_016123.4(IRAK4):c.869_885del:p.Lys290fs	coding	Pathogenic
12	43782411	TG	T	G43782414A	IRAK4	NM_016123.4(IRAK4):c.1049del:p.Gly350fs	coding	Pathogenic
12	45730105	AC	A	C45730107A	ARID2	NM_152641.4(ARID2):c.156del:p.Arg53fs	coding	Pathogenic
12	45811547	GT	G	T45811548C	ARID2	NM_152641.4(ARID2):c.415del:p.Ser139fs	coding	Pathogenic
12	45836871	C	CA	T45836874A	ARID2	NM_152641.4(ARID2):c.905dup:p.Asn302fs	coding	Pathogenic
12	45839329	AC	A	C45839330A	ARID2	NM_152641.4(ARID2):c.1332del:p.Asp444fs	coding	Pathogenic
12	45839335	TAGTG	T	A45839336T	ARID2	NM_152641.4(ARID2):c.1338_1341del:p.Leu446fs	coding	Pathogenic
12	45848962	AT	A	T45848963G	ARID2	NM_152641.4(ARID2):c.1708del:p.Cys570fs	coding	Pathogenic
12	45849647	CAT	C	A45849648G	ARID2	NM_152641.4(ARID2):c.1784_1785del:p.His595fs	coding	Pathogenic
12	45850189	CACCTCAT	C	T45850193C	ARID2	NM_152641.4(ARID2):c.2070_2076del:p.His691fs	coding	Pathogenic
12	45850236	AG	A	G45850237T	ARID2	NM_152641.4(ARID2):c.2114del:p.Ser705fs	coding	Pathogenic
12	45850658	TG	T	G45850659T	ARID2	NM_152641.4(ARID2):c.2536del:p.Val846fs	coding	Pathogenic
12	45850936	CTT	C	T45850937A	ARID2	NM_152641.4(ARID2):c.2814_2815del:p.Tyr939fs	coding	Pathogenic
12	45851533	CAG	C	A45851534G	ARID2	NM_152641.4(ARID2):c.3411_3412del:p.Gly1139fs	coding	Pathogenic
12	45851562	AACTT	A	T45851565A	ARID2	NM_152641.4(ARID2):c.3442_3445del:p.Leu1148fs	coding	Pathogenic
12	45852138	CAG	C	G45852140A	ARID2	NM_152641.4(ARID2):c.4017_4018del:p.Asn1340fs	coding	Pathogenic
12	45852437	AAC	A	C45852441G	ARID2	NM_152641.4(ARID2):c.4316_4317CA[1]:p.Gln1440fs	coding	Pathogenic
12	45852563	AC	A	C45852564A	ARID2	NM_152641.4(ARID2):c.4441del:p.His1481fs	coding	Pathogenic
12	45852754	CCAACAATGCTGGCTGCAGCG	C	C45852763G	ARID2	NM_152641.4(ARID2):c.4640_4659del:p.Ala1547fs	coding	Pathogenic
12	47846731	G	GT	A47846732T	VDR	NM_000376.3(VDR):c.832_833insA:p.Ser278fs	coding	Pathogenic
12	47857599	TG	T	G47857602C	VDR	NM_000376.3(VDR):c.366del:p.Lys123fs	coding	Pathogenic
12	47973420	ACCGG	A	G47973423C	COL2A1	NM_001844.5(COL2A1):c.4447_4450del:p.Pro1483fs	coding	Pathogenic
12	47973454	GCCCT	G	C47973457T	COL2A1	NM_001844.5(COL2A1):c.4413_4416del:p.Gly1472fs	coding	Pathogenic
12	47973533	GC	G	C47973537A	COL2A1	NM_001844.5(COL2A1):c.4337del:p.Gly1446fs	coding	Pathogenic
12	47973542	AC	A	C47973544G	COL2A1	NM_001844.5(COL2A1):c.4328del:p.Gly1443fs	coding	Pathogenic
12	47973682	GC	G	C47973683T	COL2A1	NM_001844.5(COL2A1):c.4318-130del	noncoding	Benign
12	47974201	TCGTCCAGATA	GGCAATGCT	T47974201G	COL2A1	NM_001844.5(COL2A1):c.4195_4205delinsAGCATTGCC:p.Tyr1399fs	coding	Pathogenic
12	47974867	AG	A	G47974872A	COL2A1	NM_001844.5(COL2A1):c.3887-6del	noncoding	Benign
12	47975408	CTGGT	C	G47975411T	COL2A1	NM_001844.5(COL2A1):c.3791_3794del:p.Asn1264fs	coding	Pathogenic
12	47975471	TG	T	G47975472C	COL2A1	NM_001844.5(COL2A1):c.3731del:p.Ala1244fs	coding	Pathogenic
12	47975539	CG	C	G47975541A	COL2A1	NM_001844.5(COL2A1):c.3663del:p.Ala1222fs	coding	Pathogenic
12	47975560	CA	C	A47975561G	COL2A1	NM_001844.5(COL2A1):c.3642del:p.Gly1215fs	coding	Pathogenic
12	47975578	CA	C	A47975579G	COL2A1	NM_001844.5(COL2A1):c.3624del:p.Gly1209fs	coding	Pathogenic
12	47975960	TACAGCAGGGCCGGTTTCGCCTGATCGTCCACGGGGACCAGGAGGCCCAATGGGGCCAGGGATTCCATTAGCACCATCTTTGCCAGAGGGACCGACGGGGCCAGGAGGACCCTGCAAGAGAGAGAGGTCGTGAGGAAAGAGTGGTCACCACAGGGAAGGCTGGGGAGTCGCTGGGGCTGGGTAGGTGGCTGTCCTGATAGCACCAGCCACTCCGCCCCCAGTTCTTCACATGCTCAGTCATGGAACCCTAAGTTGGTCTCTATTTGGCCAAGAACCAGCAGGATAGCTCCATGGCTTGCCTACCCTCCTAAGCTCCTCTTTGTAAAATGCTGTTCTGTCTGACAGCGAGAGGCTGATTCATGTTTGTCTTACAGCCATTGTGGCCTCAGGCG	T	A47975961C	COL2A1	NM_001844.4(COL2A1):c.3490_3597del	noncoding	Pathogenic
12	47976075	AAG	A	A47976084G	COL2A1	NM_001844.5(COL2A1):c.3490-15CT[4]	noncoding	Benign
12	47976292	T	TTCCCAGGGG	T47976295C	COL2A1	NM_001844.5(COL2A1):c.3489+221_3489+222insGACCCCTGG	noncoding	Benign
12	47976864	CCT	C	T47976870G	COL2A1	NM_001844.5(COL2A1):c.3377_3378AG[2]:p.Gly1128fs	coding	Pathogenic
12	47976889	C	CAG	T47976890A	COL2A1	NM_001844.5(COL2A1):c.3357_3358insCT:p.Glu1120fs	coding	Pathogenic
12	47976890	TC	T	C47976892T	COL2A1	NM_001844.5(COL2A1):c.3356del:p.Gly1119fs	coding	Pathogenic
12	47977608	C	CA	G47977610A	COL2A1	NM_001844.5(COL2A1):c.3156dup:p.Gly1053fs	coding	Pathogenic
12	47977626	CA	C	A47977627G	COL2A1	NM_001844.5(COL2A1):c.3138del:p.Gly1047fs	coding	Pathogenic
12	47977627	AG	A	G47977633C	COL2A1	NM_001844.5(COL2A1):c.3137del:p.Pro1046fs	coding	Pathogenic
12	47978359	GA	G	A47978360C	COL2A1	NM_001844.5(COL2A1):c.2934del:p.Gln979fs	coding	Pathogenic
12	47978360	AC	A	C47978362A	COL2A1	NM_001844.5(COL2A1):c.2933del:p.Gly978fs	coding	Pathogenic
12	47978384	T	TGG	A47978387G	COL2A1	NM_001844.5(COL2A1):c.2908_2909dup:p.Pro971fs	coding	Pathogenic
12	47978677	CA	C	A47978678G	COL2A1	NM_001844.5(COL2A1):c.2814del:p.Gly939fs	coding	Pathogenic
12	47978678	AG	A	G47978684C	COL2A1	NM_001844.5(COL2A1):c.2813del:p.Pro938fs	coding	Pathogenic
12	47978738	A	AC	A47978741C	COL2A1	NM_001844.5(COL2A1):c.2753dup:p.Pro919fs	coding	Pathogenic
12	47979935	A	AC	G47979941C	COL2A1	NM_001844.5(COL2A1):c.2679+69dup	noncoding	Benign
12	47980009	C	CG	C47980016G	COL2A1	NM_001844.5(COL2A1):c.2678dup:p.Ala895fs	coding	Pathogenic
12	47980941	C	CG	C47980948G	COL2A1	NM_001844.5(COL2A1):c.2490dup:p.Gly831fs	coding	Pathogenic
12	47980941	CG	C	G47980947C	COL2A1	NM_001844.5(COL2A1):c.2490del:p.Gly831fs	coding	Pathogenic
12	47980966	AC	A	C47980969T	COL2A1	NM_001844.4(COL2A1):c.2465delG:p.Gly822Valfs	coding	Pathogenic
12	47981654	C	CT	A47981656T	COL2A1	NM_001844.5(COL2A1):c.2409+121dup	noncoding	Benign
12	47981802	CA	C	A47981803G	COL2A1	NM_001844.5(COL2A1):c.2382del:p.Gly795fs	coding	Pathogenic
12	47981803	AG	A	G47981809C	COL2A1	NM_001844.5(COL2A1):c.2381del:p.Pro794fs	coding	Pathogenic
12	47982583	A	AG	C47982590G	COL2A1	NM_001844.5(COL2A1):c.2219dup:p.Gly741fs	coding	Pathogenic
12	47983545	CAGCCAGGGGTGCAGGGAAGGCTCGATGCCTGGCACCCTGCAAGAGGTGTGGGCCCTCCACCGATAGTGCCTGCTGCTGTCCCAGGGAGCCCTGGGTATGGCAAAGGACTGCACAGAGAGCCTGGTCCAGCCACCTACCTGGAACCCAGATGGCCCAGGAGCACCCTGCTCGCCTCGTTCACCAGCAGGTCCCTGCAGTGGAAAAGAAAAGGTGAGCTGAGCCAGTGTTCCAGAGACCCTGAGAGCCACAGCTAGTAGGGCCCAGGGGAGGTCAGCAGGGTGGGCAGCACAGGCGTCTTCCTGCACCACTCAGACAGTGCATGCATGCCTCCCTGCACTCCCATCAGCCACCCACACTCCTCTCCACCAATGTGGGTCCACACAGCCTCCTGGGACACCCTGCCTCAGCTCAGAGTGAGTCTGGTGTATCAGCTCAGCCCACATTCACATCTGTCAGCTCCATTAATGGATGGGCTCTCCCACCCCCACCCCTCCCAGCCCCTGCCCCCAGGGCCACCTGGGGAGGCTGGGCAGGTACTTACAGCAGGGCCAGGGGGTCCTGCAGCACCTGTCTCACCATCTTTGCCAGGAAGACCCTAGACAGAAGAGAAAAAGAAAAGTCAATGACACGCTTTTCTTCCCACTTGCAGTCCCCCTAGGATTGGGCAAAGGTACTTCTGGCCCAGAGTTTCCAGACCTCCACGGTACCCCAGCTGAGCTCCATTTCCACACCTTCCCCTCCCTTCCTTCCCAGGCCCCGTCTTTTCTTAGCTGTTCTCAGCATGGAAGCCTTCCCCAGCTCCCCGGCCTGCTGACCAATGGCAAACAGAAGTCTCCCTGTGTAGACACCCAAAGGGCCCAGCCAGCATGGGGCTCAGCCACAGAGATCAACACTCAATACTGAGGGGTCCCGGGACCATGCCATGGGGAGGCCGTTCCCCTGTCCTCCCTGCAGATGCCCGGCCAACACCAAGTCATGGGCAGCGGGGAAGGATACTTACCCTCAGACCAGGAGCACCAGGCAGTCCCTTCTCACCAGCTTTGCCAGGCTCACCCTGAAGGAAAGAGAGGGCAGGGCCATGAGGCGGATGGTTTGGGAGGGAGTTGGGGGCAGAGCGGGCTGCAGGGACTGAGGCCTGGGGCCACATCCTGATGGACAGCCAAGATAAAGCAAAGTATCAGCCCTTCTCTTCTGTTCAGGGGCCATAATGGCAACCAGCCTGCTGGGCACTGCCACATGGAACAATTATGGCCGCAATGCCCCGAGGCTCTGTGGGGCCATGGATTTTCCCCAAATCACATACAGACCCCCACTGCCACCCATGGCACAGGAGCCCCACTCATCACTGTCCCTGGTTAAACTCTACTCAGGACCCAGCCCTTTCCCCAAGAGGGCAGGGAGGTAGGTAGCACCACATGGAAGGAAATAGAAGAGCAAATTATTACTTACGTTGGCACCTTTGGGGCCAGGGAAACCCATGACACCAGGCTGCCCACGAGCCCCCTGAGGACCTGGAGGTCCAGGACGACCATCTTCACCAGGGGCTCCCTGAAAGACAGAACACCATTCTCAGAACATAGACACTCTGACCACATCCATCCACCCAACATCCACTAAGGGCCTACATGGCAGGCCCAGGACTAGGCACCAGCCACACATGCTCAGCATCTAGGATTGACCACATCACACCCATGGGCCCATCTACAACAAGACACCGCTGAGCTTAGAAAGCTGCCCCAGAAAGTGCACACACGATGTCATCATTCCCCCAAGGATAAGCCCCGAATGCATACTGGGGTGGCATTTTCAGTGCTCACAGCTACTGCACAGGTTACATCTGGCCCCAGTGCCTACCATCTACCCCCTGTCACAATTCTCAAAATTCACAGTACTTCAGGCCTCCCTAACCCAAACTCCATCTCTCTTTTCCCTTGCTTCCCCAGGGAGATCCCCCCACCCTCCTAGCAGCCCTCAGAGGATAGACTTACAGAAGGGCCAACTTTGCCTTGAGGACCAGCATCACCAGGGCGGCCAGTGAGACCCTTTGTTCAGGAGAGAGAAGAGGGTGGGGTCAGGAGCCGGCCCCAGGACCTCCCAATCCTGGCAGTGCAGGGCTGGAAGGAGCCAGCCAGGAAGGGCCTGAGGGTCTGAAGCCAAGGGCAACAGCAGCTCTGCTACTTACCCGGGCTCCAGGAAGGCCAGGTTCTCCAGGACGGCCAGGGTCACCGTTGGCTCCCTTGGGGCCAGCAAGACCACTGGGCCCTCGCTCTCCAGGGGCTCCCTACAAGGGTACACAGGGAGTCAGTGGGATACCATGTGACCTCAGCGATGCAGGGAGGGACCCCAGCCCCTCTTCTCCCACTCACCTTGGGACCTGCCAGACCATCTTGACCTGGGAAACCGCGGTTGCCGGGAGCACCCTAAGGAGCCACAGGGAGGAGAGGCAGTGAGTGAGAACAGCCCCAACCCAGCCAGGCTCCAGTGGGTCCATCCCACTAACCCACCAACCCCAATTTCTGGGGAGCAGTAGCTGTGGCCTGCAGGATTCTCAGAGGTTAACTTCTGGAGCCTGCCCCGCTTCCTGGGAAGGAGCTCAGACTATTTCATGTCAGTCTGGTGGTTGGCGGCACAAATCAGGATCAGACTCCCTCTCCCCGCGGTGTGGATGGAGAAAGAGGAGGATGACATGCGGAAAAGTCACGAGACTTGACCAGAACACGGACCACAAGGACTCCACTTCCCTCTCGAGGTCACAGGCCCCATGGGATGGAGCCTCCACATTCACTTAACTCTTTCTCCAGGGGGACCGATGGGCCCAACGCCACCAGGCTCTCCACGGGCACCTCTCTTGCCTTCTTCACCAGCGGGTCCAGGGGCTCCCTGGGGGCCAGCAGGGCCCTGAGGACCAGCAAAAAAGAGAAACAGAGTGAGCCTTCACCTGGCCTTGGAGCAAGCCTCGACTCAGAGTATGAAGGAAGTAGCCTTGGCAACTGTTTCAGGGCTGGGGGGGGGCTTGAGGACGAGAGGCCATAAAGGACGAGCCATGGCAGGGCAGAGGGAAGTGAGAGGGGCTAAAGATCCAACTGTTCACACTAGCCAAACCAAGGATGGGAGCTGAAGCTGTATCTGGGCCTTCTCAGCCCTGTTAAGTCTCCTCCAGGCATAATCTGAAAGGACCCAGATTGGGGGATAGAGCCCTGGAGGAGGGAGGTGGTGGGTCAGTGGGGCTGAGGCCTGTGCCTCATAGAACAGCAGCAGAGAAGACAAGGGCTTGGGGGCAGATACTCACAGGTTCTCCCTTGGGGCCTTGTTCACCTTTGA	C	G47983552C	COL2A1	NM_001844.5(COL2A1):c.1388_1996-108del	noncoding	Pathogenic
12	47985078	C	CTTCA	C47985083T	COL2A1	NM_001844.5(COL2A1):c.1746_1749dup:p.Asp584Ter	coding	Pathogenic
12	47985585	A	AC	T47985589C	COL2A1	NM_001844.5(COL2A1):c.1681-1dup	coding	Pathogenic
12	47985936	AC	A	C47985938T	COL2A1	NM_001844.5(COL2A1):c.1556del:p.Gly519fs	coding	Pathogenic
12	47986336	TCT	GGTCACA	T47986336G	COL2A1	NM_001844.5(COL2A1):c.1525_1527delinsTGTGACC:p.Arg509fs	coding	Pathogenic
12	47986432	GCCAGCAGGGCCCTGAGGA	G	G47986439A	COL2A1	NM_001844.5(COL2A1):c.1420-7_1430del	coding	Pathogenic
12	47987140	CAGGG	C	G47987142A	COL2A1	NM_001844.5(COL2A1):c.1299_1302del:p.Phe433fs	coding	Pathogenic
12	47987249	AG	A	G47987250T	COL2A1	NM_001844.5(COL2A1):c.1266+19del	noncoding	Benign
12	47987267	AC	A	C47987268A	COL2A1	NM_001844.5(COL2A1):c.1266+1del	noncoding	Pathogenic
12	47987617	AC	A	C47987619A	COL2A1	NM_001844.5(COL2A1):c.1214del:p.Gly405fs	coding	Pathogenic
12	47987632	G	GGACCCAGGA	T47987643A	COL2A1	NM_001844.5(COL2A1):c.1191_1199dup:p.Ser400_Gly402dup	coding	Pathogenic
12	47989278	GA	G	A47989279C	COL2A1	NM_001844.5(COL2A1):c.1071del:p.Pro358fs	coding	Pathogenic
12	47989772	CG	C	G47989776C	COL2A1	NM_001844.5(COL2A1):c.1056del:p.Ala353fs	coding	Pathogenic
12	47989776	GC	G	C47989778T	COL2A1	NM_001844.5(COL2A1):c.1052del:p.Gly351fs	coding	Pathogenic
12	47994021	T	TA	G47994022A	COL2A1	NM_001844.5(COL2A1):c.842_843insT:p.Gly282fs	coding	Pathogenic
12	47994484	GGA	G	G47994495T	COL2A1	NM_001844.5(COL2A1):c.763-19TC[5]	noncoding	Benign
12	47995212	TC	T	C47995213A	COL2A1	NM_001844.5(COL2A1):c.762+42del	noncoding	Benign
12	47995302	T	TG	A47995306G	COL2A1	NM_001844.5(COL2A1):c.714dup:p.Met239fs	coding	Pathogenic
12	47996575	GGC	G	G47996578C	COL2A1	NM_001844.5(COL2A1):c.578_579GC[1]:p.Ala194fs	coding	Pathogenic
12	47997627	A	AG	C47997634G	COL2A1	NM_001844.5(COL2A1):c.509dup:p.Gly171fs	coding	Pathogenic
12	47997632	GG	T	G47997632T	COL2A1	NM_001844.5(COL2A1):c.504_505delinsA:p.Pro170fs	coding	Pathogenic
12	47997645	AG	A	G47997651C	COL2A1	NM_001844.5(COL2A1):c.491del:p.Pro164fs	coding	Pathogenic
12	47997705	AC	A	C47997708T	COL2A1	NC_000012.12:g.47997708del	coding	Pathogenic
12	47998426	GT	G	T47998428G	COL2A1	NM_001844.5(COL2A1):c.297del:p.Gln99fs	coding	Pathogenic
12	47999660	TC	T	C47999661A	COL2A1	NM_001844.5(COL2A1):c.292+258del	noncoding	Benign
12	47999949	T	TG	C47999954G	COL2A1	NM_001844.5(COL2A1):c.261dup:p.Ile88fs	coding	Pathogenic
12	48004296	GT	TA	G48004296T	COL2A1	NM_001844.5(COL2A1):c.25_26delinsTA:p.Thr9Ter	coding	Pathogenic
12	48144091	CCTGTA	C	G48144094C	PFKM	NM_000289.6(PFKM):c.1929_1933del:p.Leu643_Tyr644insTer	coding	Pathogenic
12	48145038	GC	G	C48145041A	PFKM	NM_000289.6(PFKM):c.2003del:p.Pro668fs	coding	Pathogenic
12	48916992	GA	G	A48916993G	CCDC65	NM_033124.5(CCDC65):c.494del:p.Glu165fs	coding	Pathogenic
12	48918750	GTA	G	A48918754C	CCDC65	NM_033124.5(CCDC65):c.875_876AT[1]:p.Ile293fs	coding	Pathogenic/Likely_pathogenic
12	48918910	CAG	C	A48918911G	CCDC65	NM_033124.5(CCDC65):c.1026+8_1026+9del	noncoding	Benign
12	48966447	GC	G	C48966452A	WNT10B	NM_003394.4(WNT10B):c.817del:p.Ala273fs	coding	Pathogenic
12	48967959	CTGT	C	T48967966G	WNT10B	NM_003394.4(WNT10B):c.689_691ACA[2]:p.Asn232del	coding	Pathogenic
12	48968195	C	CTGCT	C48968200T	WNT10B	NM_003394.4(WNT10B):c.458_461dup:p.Asp155fs	coding	Pathogenic
12	48981472	T	TAACA	G48981477A	WNT1	NM_005430.4(WNT1):c.946_949dup:p.Ser317fs	coding	Pathogenic
12	48981551	AC	A	C48981553G	WNT1	NM_005430.4(WNT1):c.1026del:p.Glu343fs	coding	Pathogenic
12	49022091	CTCTT	C	C49022093G	KMT2D	NM_003482.3(KMT2D):c.16469_16472del:p.Lys5490fs	coding	Pathogenic
12	49022117	CCA	C	C49022122G	KMT2D	NM_003482.4(KMT2D):c.16441_16442TG[2]:p.Val5482fs	coding	Pathogenic
12	49022122	CAGTT	C	T49022125G	KMT2D	NM_003482.3(KMT2D):c.16438_16441del:p.Asn5480fs	coding	Pathogenic
12	49022126	TA	T	A49022127G	KMT2D	NM_003482.3(KMT2D):c.16437del:p.Asn5480fs	coding	Pathogenic
12	49022263	TC	T	C49022265T	KMT2D	NM_003482.3(KMT2D):c.16412+16del	noncoding	Benign
12	49022591	T	TG	C49022593G	KMT2D	NM_003482.3(KMT2D):c.16336dup:p.Gln5446fs	coding	Pathogenic
12	49022606	TTCTCCCGCCGGTTGGC	G	T49022606G	KMT2D	NM_003482.3(KMT2D):c.16306_16322delinsC:p.Ala5436fs	coding	Pathogenic
12	49022705	CCCTGGATACGGGAG	C	C49022707G	KMT2D	NM_003482.4(KMT2D):c.16209_16222del:p.Ser5404fs	coding	Pathogenic
12	49022811	T	TG	T49022814G	KMT2D	NM_003482.4(KMT2D):c.16116dup:p.Asn5373fs	coding	Pathogenic
12	49022818	GC	G	C49022820T	KMT2D	NM_003482.3(KMT2D):c.16109del:p.Gly5370fs	coding	Pathogenic
12	49024659	TG	T	G49024661C	KMT2D	NM_003482.4(KMT2D):c.15970del:p.His5324fs	coding	Pathogenic
12	49024673	GAATA	G	A49024678G	KMT2D	NM_003482.3(KMT2D):c.15949_15952TATT[1]:p.Leu5318fs	coding	Pathogenic
12	49024827	GCA	G	A49024829G	KMT2D	NM_003482.3(KMT2D):c.15902_15903del:p.Val5301fs	coding	Pathogenic
12	49024896	CA	C	A49024897G	KMT2D	NM_003482.3(KMT2D):c.15834del:p.Asp5279fs	coding	Pathogenic
12	49026249	CGGCCGCCCG	TA	C49026249T	KMT2D	NM_003482.3(KMT2D):c.15708_15717delinsTA:p.Gly5237fs	coding	Pathogenic
12	49026420	G	GC	A49026427C	KMT2D	NM_003482.4(KMT2D):c.15545dup:p.Leu5183fs	coding	Pathogenic
12	49026793	AC	A	C49026796A	KMT2D	NM_003482.3(KMT2D):c.15172del:p.Val5058fs	coding	Pathogenic
12	49026915	G	GC	A49026918C	KMT2D	NM_003482.3(KMT2D):c.15050dup:p.Thr5018fs	coding	Pathogenic
12	49026935	C	CT	G49026937T	KMT2D	NM_003482.3(KMT2D):c.15030dup:p.Glu5011fs	coding	Pathogenic
12	49026952	TC	T	C49026954T	KMT2D	NM_003482.4(KMT2D):c.15013del:p.Asp5005fs	coding	Pathogenic
12	49026989	GC	G	C49026990A	KMT2D	NM_003482.4(KMT2D):c.14976del:p.Leu4993fs	coding	Pathogenic
12	49026990	CA	C	A49026991G	KMT2D	NM_003482.4(KMT2D):c.14975del:p.Leu4992fs	coding	Pathogenic
12	49027080	C	CT	G49027083T	KMT2D	NM_003482.3(KMT2D):c.14885dup:p.Pro4963fs	coding	Pathogenic
12	49027098	AG	A	G49027102A	KMT2D	NM_003482.4(KMT2D):c.14867del:p.Pro4956fs	coding	Pathogenic
12	49027141	GCC	AACA	G49027141A	KMT2D	NM_003482.3(KMT2D):c.14823_14825delinsTGTT:p.Leu4941fs	coding	Pathogenic
12	49027212	AG	A	G49027217C	KMT2D	NM_003482.3(KMT2D):c.14753del:p.Pro4918fs	coding	Pathogenic
12	49027265	GA	G	A49027266T	KMT2D	NM_003482.3(KMT2D):c.14700del:p.Leu4901fs	coding	Pathogenic
12	49027865	C	CA	C49027869A	KMT2D	NM_003482.3(KMT2D):c.14580dup:p.Asp4861Ter	coding	Pathogenic
12	49028007	AC	A	C49028009A	KMT2D	NM_003482.4(KMT2D):c.14515+1del	noncoding	Pathogenic
12	49028848	CTG	C	T49028851A	KMT2D	NM_003482.3(KMT2D):c.14358_14359CA[1]:p.Thr4787fs	coding	Pathogenic
12	49029399	ACCTGACAT	A	G49029403C	KMT2D	NM_003482.3(KMT2D):c.14069_14075+1del	noncoding	Pathogenic
12	49029475	AT	A	T49029476C	KMT2D	NM_003482.4(KMT2D):c.14000del:p.Asp4667fs	coding	Pathogenic
12	49030281	CCT	C	T49030283A	KMT2D	NM_003482.3(KMT2D):c.13996_13997del:p.Arg4666fs	coding	Pathogenic/Likely_pathogenic
12	49030285	A	AGTGCCCTT	T49030294G	KMT2D	NM_003482.3(KMT2D):c.13986_13993dup:p.Leu4665fs	coding	Pathogenic
12	49030383	T	TG	T49030389G	KMT2D	NM_003482.3(KMT2D):c.13895dup:p.Ser4633fs	coding	Pathogenic
12	49030394	TG	T	G49030400C	KMT2D	NM_003482.3(KMT2D):c.13884del:p.Thr4629fs	coding	Pathogenic
12	49030394	T	TG	C49030401G	KMT2D	NM_003482.4(KMT2D):c.13884dup:p.Thr4629fs	coding	Pathogenic
12	49030602	T	TTGGTA	A49030608T	KMT2D	NM_003482.3(KMT2D):c.13833_13837dup:p.Lys4613fs	coding	Pathogenic
12	49030659	GC	G	C49030665T	KMT2D	NM_003482.4(KMT2D):c.13780del:p.Ala4594fs	coding	Pathogenic
12	49030659	G	GC	T49030666C	KMT2D	NM_003482.3(KMT2D):c.13780dup:p.Ala4594fs	coding	Pathogenic
12	49030903	TGTTTCAGCA	T	G49030904A	KMT2D	NM_003482.3(KMT2D):c.13652_13660del:p.Leu4551_Gln4554delinsTer	coding	Pathogenic
12	49031186	TG	T	G49031191T	KMT2D	NM_003482.3(KMT2D):c.13518del:p.Ser4507fs	coding	Pathogenic
12	49031209	TCCAGC	T	C49031216A	KMT2D	NM_003482.4(KMT2D):c.13491_13495del:p.Leu4498fs	coding	Pathogenic
12	49031292	ATT	A	T49031293C	KMT2D	NM_003482.3(KMT2D):c.13411_13412del:p.Asn4471fs	coding	Pathogenic
12	49031326	TG	T	G49031327C	KMT2D	NM_003482.4(KMT2D):c.13378del:p.His4460fs	coding	Pathogenic
12	49031343	AG	A	G49031346C	KMT2D	NM_003482.3(KMT2D):c.13361del:p.Pro4454fs	coding	Pathogenic
12	49031380	GC	G	C49031384T	KMT2D	NM_003482.3(KMT2D):c.13324del:p.Ala4442fs	coding	Pathogenic
12	49031384	CT	C	T49031385A	KMT2D	NM_003482.4(KMT2D):c.13320del:p.Ile4440fs	coding	Pathogenic
12	49031407	C	CT	C49031409T	KMT2D	NM_003482.4(KMT2D):c.13297dup:p.Arg4433fs	coding	Pathogenic
12	49031496	ATT	A	T49031497C	KMT2D	NM_003482.3(KMT2D):c.13207_13208del:p.Asn4403fs	coding	Pathogenic
12	49031527	C	CT	G49031529T	KMT2D	NM_003482.4(KMT2D):c.13177dup:p.Ser4393fs	coding	Pathogenic
12	49031672	TG	T	G49031677T	KMT2D	NM_003482.3(KMT2D):c.13032del:p.Lys4345fs	coding	Pathogenic/Likely_pathogenic
12	49031690	TG	T	G49031693A	KMT2D	NM_003482.4(KMT2D):c.13014del:p.Thr4339fs	coding	Pathogenic
12	49031747	GTC	G	C49031751T	KMT2D	NM_003482.3(KMT2D):c.12954_12955GA[1]:p.Arg4319fs	coding	Pathogenic
12	49031759	CTT	C	T49031760G	KMT2D	NM_003482.4(KMT2D):c.12944_12945del:p.Gln4315fs	coding	Pathogenic
12	49031808	TC	T	C49031810T	KMT2D	NM_003482.3(KMT2D):c.12896del:p.Gly4299fs	coding	Pathogenic/Likely_pathogenic
12	49031811	TGTAGATAAGGCTCCTG	T	A49031814G	KMT2D	NM_003482.3(KMT2D):c.12878_12893del:p.Pro4293fs	coding	Pathogenic
12	49031890	CCTGT	C	C49031895G	KMT2D	NM_003482.3(KMT2D):c.12807_12810ACAG[1]:p.Thr4271fs	coding	Pathogenic
12	49031947	A	AG	A49031952G	KMT2D	NM_003482.4(KMT2D):c.12757dup:p.Leu4253fs	coding	Pathogenic
12	49032003	ACT	A	C49032006G	KMT2D	NM_003482.4(KMT2D):c.12700_12701del:p.Gln4235fs	coding	Pathogenic
12	49032100	T	TGGAGC	T49032106G	KMT2D	NM_003482.4(KMT2D):c.12600_12604dup:p.Gln4202fs	coding	Pathogenic
12	49032223	TC	T	C49032224T	KMT2D	NM_003482.3(KMT2D):c.12481del:p.Glu4161fs	coding	Pathogenic
12	49032249	AAGGTTCTGGGTCAT	A	A49032250G	KMT2D	NM_003482.4(KMT2D):c.12442_12455del:p.Met4148fs	coding	Pathogenic
12	49032290	C	CA	G49032292A	KMT2D	NM_003482.4(KMT2D):c.12414dup:p.Val4139fs	coding	Pathogenic
12	49032322	GAGGCCTCAGAAGA	G	A49032323T	KMT2D	NM_003482.4(KMT2D):c.12370_12382del:p.Ser4124fs	coding	Pathogenic
12	49032521	GT	G	T49032523C	KMT2D	NM_003482.4(KMT2D):c.12183del:p.Glu4061fs	coding	Pathogenic
12	49032539	CA	C	A49032540G	KMT2D	NM_003482.4(KMT2D):c.12165del:p.Glu4056fs	coding	Pathogenic
12	49032638	C	CCTGA	G49032640T	KMT2D	NM_003482.4(KMT2D):c.12066_12067insTCAG:p.Gly4023fs	coding	Pathogenic
12	49032765	CT	C	T49032766G	KMT2D	NM_003482.3(KMT2D):c.11939del:p.Gln3980fs	coding	Pathogenic
12	49032934	T	TG	T49032936G	KMT2D	NM_003482.4(KMT2D):c.11770dup:p.Gln3924fs	coding	Pathogenic
12	49032935	GT	G	T49032937G	KMT2D	NM_003482.4(KMT2D):c.11769del:p.Gln3923fs	coding	Pathogenic
12	49033025	TG	T	G49033028C	KMT2D	NM_003482.4(KMT2D):c.11679del:p.Met3894fs	coding	Pathogenic
12	49033103	CTTGCTGTT	G	C49033103G	KMT2D	NM_003482.4(KMT2D):c.11594_11602delinsC:p.Gln3865fs	coding	Pathogenic
12	49033107	C	CT	G49033109T	KMT2D	NM_003482.4(KMT2D):c.11597dup:p.Gln3867fs	coding	Pathogenic
12	49033147	A	ACCAGCCTGTGT	C49033161A	KMT2D	NM_003482.3(KMT2D):c.11547_11557dup:p.Val3853fs	coding	Pathogenic
12	49033185	C	CA	G49033187A	KMT2D	NM_003482.3(KMT2D):c.11519dup:p.Ala3841fs	coding	Pathogenic
12	49033226	CCTGT	C	C49033231G	KMT2D	NM_003482.3(KMT2D):c.11471_11474ACAG[1]:p.Gln3826fs	coding	Pathogenic
12	49033279	AC	A	C49033280A	KMT2D	NM_003482.4(KMT2D):c.11425del:p.Val3809fs	coding	Pathogenic
12	49033282	GC	G	C49033284A	KMT2D	NM_003482.3(KMT2D):c.11422del:p.Ala3808fs	coding	Pathogenic/Likely_pathogenic
12	49033318	TG	T	G49033322T	KMT2D	NM_003482.3(KMT2D):c.11386del:p.Gln3796fs	coding	Pathogenic
12	49033482	T	TTGC	A49033504T	KMT2D	NM_003482.4(KMT2D):c.11202_11204GCA[8]:p.Gln3745dup	coding	Benign/Likely_benign
12	49033490	GC	G	C49033491T	KMT2D	NM_003482.3(KMT2D):c.11214del:p.Gln3738fs	coding	Pathogenic
12	49033502	GCA	G	C49033503G	KMT2D	NM_003482.3(KMT2D):c.11201_11202del:p.Leu3734fs	coding	Pathogenic
12	49033611	G	GC	T49033617C	KMT2D	NM_003482.3(KMT2D):c.11093dup:p.Phe3699fs	coding	Pathogenic
12	49033927	GC	G	C49033929A	KMT2D	NM_003482.4(KMT2D):c.10777del:p.Ala3593fs	coding	Pathogenic
12	49034099	G	GCT	G49034104C	KMT2D	NM_003482.3(KMT2D):c.10704_10705AG[3]:p.Gln3570fs	coding	Pathogenic
12	49034112	CT	C	T49034114G	KMT2D	NM_003482.4(KMT2D):c.10694del:p.Lys3565fs	coding	Pathogenic
12	49034178	ACACAGA	CGTGACTTGCG	A49034178C	KMT2D	NM_003482.3(KMT2D):c.10623_10629delinsCGCAAGTCACG:p.Leu3542fs	coding	Pathogenic
12	49034651	CAG	C	G49034655C	KMT2D	NM_003482.3(KMT2D):c.10367_10368CT[1]:p.Leu3457fs	coding	Pathogenic
12	49037408	AC	A	C49037411A	KMT2D	NM_003482.3(KMT2D):c.9947del:p.Gly3316fs	coding	Pathogenic
12	49037417	AAG	T	A49037417T	KMT2D	NM_003482.3(KMT2D):c.9937_9939delinsA:p.Leu3313fs	coding	Pathogenic
12	49037564	C	CTGCTT	C49037570T	KMT2D	NM_003482.4(KMT2D):c.9787_9791dup:p.Gln3265fs	coding	Pathogenic
12	49037651	CTT	C	T49037652G	KMT2D	NM_003482.3(KMT2D):c.9703_9704del:p.Lys3235fs	coding	Pathogenic
12	49037753	C	CA	G49037755A	KMT2D	NM_003482.3(KMT2D):c.9602dup:p.Ser3202fs	coding	Pathogenic
12	49037815	CA	C	A49037816G	KMT2D	NM_003482.3(KMT2D):c.9540del:p.Glu3181fs	coding	Pathogenic
12	49037988	TC	T	C49037990A	KMT2D	NM_003482.3(KMT2D):c.9367del:p.Glu3123fs	coding	Pathogenic
12	49038090	A	AC	G49038097C	KMT2D	NM_003482.3(KMT2D):c.9265dup:p.Val3089fs	coding	Pathogenic
12	49038132	G	GA	T49038134A	KMT2D	NM_003482.3(KMT2D):c.9223dup:p.Ser3075fs	coding	Pathogenic
12	49038256	TG	T	G49038258T	KMT2D	NM_003482.3(KMT2D):c.9099del:p.Asn3034fs	coding	Pathogenic
12	49038313	CCA	C	C49038314G	KMT2D	NM_003482.3(KMT2D):c.9041_9042del:p.Leu3014fs	coding	Pathogenic
12	49038340	CAT	C	A49038341C	KMT2D	NM_003482.4(KMT2D):c.9014_9015del:p.Asp3005fs	coding	Pathogenic
12	49038511	TTGGA	T	G49038514A	KMT2D	NM_003482.3(KMT2D):c.8841_8844del:p.His2947fs	coding	Pathogenic
12	49038529	TC	T	C49038530A	KMT2D	NM_003482.4(KMT2D):c.8826del:p.Asn2943fs	coding	Pathogenic
12	49038560	CTG	C	T49038563G	KMT2D	NM_003482.3(KMT2D):c.8792_8793CA[1]:p.Gln2932fs	coding	Pathogenic
12	49038659	GC	G	C49038662T	KMT2D	NM_003482.3(KMT2D):c.8696del:p.Gly2899fs	coding	Pathogenic
12	49038705	A	AC	A49038707C	KMT2D	NM_003482.3(KMT2D):c.8650dup:p.Val2884fs	coding	Pathogenic
12	49038729	TG	T	G49038732C	KMT2D	NM_003482.3(KMT2D):c.8626del:p.Gln2876fs	coding	Pathogenic
12	49038867	CGCATGGAGGTT	C	A49038870T	KMT2D	NM_003482.3(KMT2D):c.8478_8488del:p.Thr2827fs	coding	Pathogenic
12	49038880	C	CTGCTGTTGCCTGTTGTTGCTGCCACAGTTGT	T49038921C	KMT2D	NM_003482.3(KMT2D):c.8445_8475dup:p.Ala2826fs	coding	Pathogenic
12	49038925	G	GT	A49038927T	KMT2D	NM_003482.4(KMT2D):c.8430dup:p.Gln2811fs	coding	Pathogenic
12	49039449	AG	A	G49039454T	KMT2D	NM_003482.3(KMT2D):c.8214del:p.Phe2739fs	coding	Pathogenic
12	49039453	G	GGTCT	G49039459T	KMT2D	NM_003482.3(KMT2D):c.8207_8210dup:p.Pro2738fs	coding	Pathogenic
12	49039488	TGCTGG	T	G49039492C	KMT2D	NM_003482.3(KMT2D):c.8171_8175del:p.Pro2724fs	coding	Pathogenic/Likely_pathogenic
12	49039515	GA	AG	G49039515A	KMT2D	NM_003482.3(KMT2D):c.8148_8149delinsCT:p.Pro2717Ser	coding	Benign/Likely_benign
12	49040126	C	CT	A49040130T	KMT2D	NM_003482.3(KMT2D):c.7643dup:p.Pro2549fs	coding	Pathogenic
12	49040393	GGA	G	G49040394C	KMT2D	NM_003482.3(KMT2D):c.7375_7376del:p.Ser2459fs	coding	Pathogenic
12	49040444	AG	A	G49040448T	KMT2D	NM_003482.3(KMT2D):c.7325del:p.Pro2442fs	coding	Pathogenic
12	49040556	GAGGGCAGTGAGCGAGGGGGCAGAGCACAGCA	AGT	G49040556A	KMT2D	NM_003482.3(KMT2D):c.7183_7214delinsACT:p.Cys2395fs	coding	Pathogenic
12	49040629	GC	G	C49040630T	KMT2D	NM_003482.3(KMT2D):c.7140del:p.Gln2380fs	coding	Pathogenic
12	49040778	A	AG	C49040785G	KMT2D	NM_003482.3(KMT2D):c.6991dup:p.Leu2331fs	coding	Pathogenic
12	49041061	G	GGT	C49041066G	KMT2D	NM_003482.3(KMT2D):c.6705_6706AC[3]:p.Gln2237fs	coding	Pathogenic
12	49041095	TTCCCC	T	C49041097G	KMT2D	NM_003482.3(KMT2D):c.6670_6674del:p.Gly2224fs	coding	Pathogenic
12	49041096	T	TC	T49041101C	KMT2D	NM_003482.3(KMT2D):c.6673dup:p.Glu2225fs	coding	Pathogenic
12	49041174	TA	T	A49041175G	KMT2D	NM_003482.3(KMT2D):c.6595del:p.Tyr2199fs	coding	Pathogenic
12	49041175	AG	A	G49041181A	KMT2D	NM_003482.3(KMT2D):c.6594del:p.Tyr2199fs	coding	Pathogenic
12	49041223	A	AG	C49041226G	KMT2D	NM_003482.3(KMT2D):c.6546dup:p.Tyr2183fs	coding	Pathogenic
12	49041261	TG	T	G49041264C	KMT2D	NM_003482.3(KMT2D):c.6508del:p.Gln2170fs	coding	Pathogenic
12	49041469	C	CCGGT	A49041479G	KMT2D	NM_003482.4(KMT2D):c.6293_6296ACCG[3]:p.Ala2101fs	coding	Pathogenic
12	49041505	TG	T	G49041507T	KMT2D	NM_003482.3(KMT2D):c.6264del:p.Lys2089fs	coding	Pathogenic
12	49041530	A	AACAGGGGGAGACCTGCTTGTTGATCT	G49041531A	KMT2D	NM_003482.4(KMT2D):c.6239_6240insAGATCAACAAGCAGGTCTCCCCCTGT:p.Glu2081fs	coding	Pathogenic
12	49041927	GC	G	C49041928T	KMT2D	NM_003482.3(KMT2D):c.6172del:p.Ala2058fs	coding	Pathogenic
12	49041928	C	CT	G49041932T	KMT2D	NM_003482.3(KMT2D):c.6171dup:p.Ala2058fs	coding	Pathogenic
12	49042111	AG	A	G49042113A	KMT2D	NM_003482.3(KMT2D):c.6086del:p.Pro2029fs	coding	Pathogenic
12	49042282	GGGGCTGTC	G	G49042288C	KMT2D	NM_003482.3(KMT2D):c.5908_5915del:p.Asp1970fs	coding	Pathogenic
12	49042575	CG	C	G49042579A	KMT2D	NM_003482.3(KMT2D):c.5852del:p.Pro1951fs	coding	Pathogenic
12	49042747	GA	G	A49042750G	KMT2D	NM_003482.4(KMT2D):c.5775del:p.Leu1926fs	coding	Pathogenic
12	49043089	CCTGT	C	G49043092A	KMT2D	NM_003482.3(KMT2D):c.5627_5630del:p.Asp1876fs	coding	Pathogenic/Likely_pathogenic
12	49043626	ATAAC	A	T49043631C	KMT2D	NM_003482.3(KMT2D):c.5467+5_5467+8del	noncoding	Pathogenic
12	49043678	TC	T	C49043681T	KMT2D	NM_003482.3(KMT2D):c.5423del:p.Gly1808fs	coding	Pathogenic
12	49043907	CTT	C	T49043908G	KMT2D	NM_003482.3(KMT2D):c.5278_5279del:p.Lys1760fs	coding	Pathogenic
12	49043980	G	GGCAGGTCA	A49043995C	KMT2D	NM_003482.3(KMT2D):c.5199_5206dup:p.Pro1736fs	coding	Pathogenic
12	49044248	GC	G	C49044252T	KMT2D	NM_003482.3(KMT2D):c.5139del:p.Pro1714fs	coding	Pathogenic
12	49044262	CGT	C	T49044268G	KMT2D	NM_003482.4(KMT2D):c.5124_5125del:p.Arg1709fs	coding	Pathogenic/Likely_pathogenic
12	49044504	T	TC	A49044507C	KMT2D	NM_003482.3(KMT2D):c.4981dup:p.Glu1661fs	coding	Pathogenic
12	49044765	CG	C	G49044767T	KMT2D	NM_003482.3(KMT2D):c.4941del:p.Asp1648fs	coding	Pathogenic
12	49044894	T	TG	T49044897G	KMT2D	NM_003482.3(KMT2D):c.4812dup:p.Met1605fs	coding	Pathogenic
12	49045921	TG	T	G49045923C	KMT2D	NM_003482.3(KMT2D):c.4739del:p.Pro1580fs	coding	Pathogenic
12	49046314	CAGAT	C	A49046317G	KMT2D	NM_003482.3(KMT2D):c.4525_4528del:p.Ile1509fs	coding	Pathogenic
12	49046626	GC	G	C49046629T	KMT2D	NM_003482.3(KMT2D):c.4400del:p.Gly1467fs	coding	Pathogenic
12	49046631	T	TG	A49046636G	KMT2D	NM_003482.3(KMT2D):c.4395dup:p.Lys1466fs	coding	Pathogenic/Likely_pathogenic
12	49046647	TG	T	G49046653T	KMT2D	NM_003482.3(KMT2D):c.4379del:p.Pro1460fs	coding	Pathogenic
12	49047979	AG	A	G49047980T	KMT2D	NM_003482.3(KMT2D):c.4221del:p.Cys1408fs	coding	Pathogenic
12	49048032	GC	G	C49048038G	KMT2D	NM_003482.4(KMT2D):c.4168del:p.Ala1390fs	coding	Pathogenic
12	49048032	G	GC	G49048039C	KMT2D	NM_003482.3(KMT2D):c.4168dup:p.Ala1390fs	coding	Pathogenic
12	49048064	CAT	C	A49048065G	KMT2D	NM_003482.3(KMT2D):c.4135_4136del:p.Met1379fs	coding	Pathogenic/Likely_pathogenic
12	49048778	CAG	C	A49048783T	KMT2D	NM_003482.3(KMT2D):c.4021-15CT[2]	noncoding	Benign
12	49049156	A	AC	A49049159C	KMT2D	NM_003482.3(KMT2D):c.3968dup:p.Gly1323_Arg1324insTer	coding	Pathogenic
12	49049681	CCTGTTTG	ACTGTTTC	C49049681A	KMT2D	NM_003482.3(KMT2D):c.3900_3906+1delinsGAAACAGT	coding	Pathogenic
12	49049684	G	GT	G49049688T	KMT2D	NM_003482.4(KMT2D):c.3903dup:p.Gln1302fs	coding	Pathogenic
12	49049684	GT	G	T49049687G	KMT2D	NM_003482.3(KMT2D):c.3903del:p.Lys1301fs	coding	Pathogenic
12	49049692	CG	C	G49049695A	KMT2D	NM_003482.4(KMT2D):c.3895del:p.Arg1299fs	coding	Pathogenic
12	49049741	TGCCTCCGCTGATA	T	C49049744T	KMT2D	NM_003482.3(KMT2D):c.3834_3846del:p.Ile1279fs	coding	Pathogenic
12	49049857	AC	A	C49049862A	KMT2D	NM_003482.3(KMT2D):c.3730del:p.Val1244fs	coding	Pathogenic
12	49049883	AC	A	C49049889T	KMT2D	NM_003482.3(KMT2D):c.3704del:p.Gly1235fs	coding	Pathogenic
12	49049892	CG	C	G49049895T	KMT2D	NM_003482.3(KMT2D):c.3695del:p.Pro1232fs	coding	Pathogenic
12	49049996	TG	T	G49049999T	KMT2D	NM_003482.3(KMT2D):c.3591del:p.Thr1198fs	coding	Pathogenic
12	49050002	G	GT	G49050004T	KMT2D	NM_003482.3(KMT2D):c.3585dup:p.Pro1196fs	coding	Pathogenic
12	49050005	T	TG	C49050011G	KMT2D	NM_003482.3(KMT2D):c.3582dup:p.Thr1195fs	coding	Pathogenic
12	49050047	GT	G	T49050048G	KMT2D	NM_003482.4(KMT2D):c.3540del:p.Pro1181fs	coding	Pathogenic
12	49050251	CCAGGGCTGGGG	C	C49050263G	KMT2D	NM_003482.3(KMT2D):c.3315_3325CCCCAGCCCTG[1]:p.Ala1109fs	coding	Pathogenic
12	49050295	AT	A	T49050297G	KMT2D	NM_003482.4(KMT2D):c.3292del:p.Met1098fs	coding	Pathogenic
12	49050477	GGA	G	A49050479T	KMT2D	NM_003482.3(KMT2D):c.3109_3110del:p.Ser1037fs	coding	Pathogenic
12	49050593	TA	T	A49050594G	KMT2D	NM_003482.3(KMT2D):c.2994del:p.Pro998_Met999insTer	coding	Pathogenic
12	49050633	T	TA	G49050634A	KMT2D	NM_003482.3(KMT2D):c.2954_2955insT:p.Pro986fs	coding	Pathogenic
12	49050796	AG	A	G49050798A	KMT2D	NM_003482.3(KMT2D):c.2798-7del	noncoding	Benign/Likely_benign
12	49050900	TGAGGCGACAAGGATGGCTCCCCA	T	G49050903T	KMT2D	NM_003482.4(KMT2D):c.2760_2782del:p.Gly921fs	coding	Pathogenic
12	49050935	CG	GGATGGCTCAGCT	C49050935G	KMT2D	NM_003482.3(KMT2D):c.2747_2748delinsAGCTGAGCCATCC:p.Pro916fs	coding	Pathogenic
12	49050969	TC	T	C49050973A	KMT2D	NM_003482.3(KMT2D):c.2713del:p.Glu905fs	coding	Pathogenic
12	49051058	AG	TTTTGGCCT	A49051058T	KMT2D	NM_003482.3(KMT2D):c.2624_2625delinsAGGCCAAAA:p.Pro875fs	coding	Pathogenic
12	49051103	CA	C	A49051104G	KMT2D	NM_003482.3(KMT2D):c.2579del:p.Leu860fs	coding	Pathogenic
12	49051149	CG	C	G49051155A	KMT2D	NM_003482.3(KMT2D):c.2533del:p.Arg845fs	coding	Pathogenic
12	49051176	T	TG	A49051183G	KMT2D	NM_003482.4(KMT2D):c.2506dup:p.Gln836fs	coding	Pathogenic
12	49051365	T	TG	A49051372G	KMT2D	NM_003482.3(KMT2D):c.2317dup:p.Gln773fs	coding	Pathogenic
12	49051406	TGGCTCCTCAGGCCGGGGGGACAGGTGC	T	G49051424T	KMT2D	NM_003482.3(KMT2D):c.2250_2276del:p.746_754RPEEPHLSP[1]	coding	Benign/Likely_benign
12	49051518	TC	T	C49051520T	KMT2D	NM_003482.3(KMT2D):c.2164del:p.Glu722fs	coding	Pathogenic
12	49051568	TGAGTCCTCAGGTGGTGGGGATGTGGGG	T	T49051589G	KMT2D	NM_003482.3(KMT2D):c.2088_2114del:p.Thr698_Pro706del	coding	Benign/Likely_benign
12	49051591	T	TG	A49051597G	KMT2D	NM_003482.4(KMT2D):c.2091dup:p.Thr698fs	coding	Pathogenic
12	49051715	CA	C	A49051716G	KMT2D	NM_003482.4(KMT2D):c.1967del:p.Leu656fs	coding	Pathogenic
12	49051716	AG	A	G49051722A	KMT2D	NM_003482.3(KMT2D):c.1966del:p.Leu656fs	coding	Pathogenic
12	49051742	TG	T	G49051749A	KMT2D	NM_003482.3(KMT2D):c.1940del:p.Pro647fs	coding	Pathogenic/Likely_pathogenic
12	49051742	T	TG	A49051750G	KMT2D	NM_003482.3(KMT2D):c.1940dup:p.Pro648fs	coding	Pathogenic
12	49051837	G	GA	G49051839A	KMT2D	NM_003482.3(KMT2D):c.1845dup:p.Pro616fs	coding	Pathogenic
12	49051857	GA	G	A49051858C	KMT2D	NM_003482.3(KMT2D):c.1825del:p.Ser609fs	coding	Pathogenic
12	49051867	ACT	A	C49051870T	KMT2D	NM_003482.3(KMT2D):c.1812_1813AG[1]:p.Glu605fs	coding	Pathogenic
12	49051919	TGA	T	G49051920C	KMT2D	NM_003482.4(KMT2D):c.1762_1763del:p.Ser588fs	coding	Pathogenic
12	49051934	AG	A	G49051938A	KMT2D	NM_003482.4(KMT2D):c.1748del:p.Pro583fs	coding	Pathogenic
12	49052048	CA	C	A49052049G	KMT2D	NM_003482.3(KMT2D):c.1634del:p.Leu545fs	coding	Pathogenic
12	49052066	TG	T	G49052068T	KMT2D	NM_003482.4(KMT2D):c.1616del:p.Pro539fs	coding	Pathogenic
12	49052211	TCCTC	T	C49052213A	KMT2D	NM_003482.3(KMT2D):c.1468_1471del:p.Glu490fs	coding	Pathogenic
12	49052319	TC	T	C49052321T	KMT2D	NM_003482.4(KMT2D):c.1363del:p.Glu455fs	coding	Pathogenic
12	49052336	CAG	C	A49052337G	KMT2D	NM_003482.3(KMT2D):c.1345_1346del:p.Leu449fs	coding	Pathogenic
12	49052350	CAGGT	C	A49052351G	KMT2D	NM_003482.3(KMT2D):c.1329_1332del:p.Pro444fs	coding	Pathogenic/Likely_pathogenic
12	49052381	TA	T	A49052382G	KMT2D	NM_003482.3(KMT2D):c.1301del:p.Leu434fs	coding	Pathogenic
12	49052382	A	AG	C49052389G	KMT2D	NM_003482.3(KMT2D):c.1300dup:p.Leu434fs	coding	Pathogenic
12	49052382	AG	A	G49052388C	KMT2D	NM_003482.3(KMT2D):c.1300del:p.Pro433_Leu434insTer	coding	Pathogenic
12	49052564	CT	C	T49052565A	KMT2D	NM_003482.4(KMT2D):c.1257del:p.Ala422fs	coding	Pathogenic
12	49052678	TG	T	G49052683T	KMT2D	NM_003482.3(KMT2D):c.1143del:p.Thr382fs	coding	Pathogenic/Likely_pathogenic
12	49052990	CAGAG	C	A49052995T	KMT2D	NM_003482.3(KMT2D):c.1029_1030CT[2]:p.Leu345fs	coding	Pathogenic
12	49053215	TC	T	C49053217A	KMT2D	NM_003482.3(KMT2D):c.945del:p.Ser314_Trp315insTer	coding	Pathogenic
12	49053302	T	TA	G49053304A	KMT2D	NM_003482.4(KMT2D):c.858dup:p.Lys287Ter	coding	Pathogenic/Likely_pathogenic
12	49053478	G	GC	A49053480C	KMT2D	NM_003482.3(KMT2D):c.836dup:p.Cys279fs	coding	Pathogenic
12	49053536	AG	A	G49053537A	KMT2D	NM_003482.4(KMT2D):c.778del:p.Ala259_Leu260insTer	coding	Pathogenic
12	49053554	GC	G	C49053558G	KMT2D	NM_003482.4(KMT2D):c.760del:p.Ala254fs	coding	Pathogenic
12	49053563	T	TA	G49053565A	KMT2D	NM_003482.4(KMT2D):c.751dup:p.Tyr251fs	coding	Pathogenic
12	49053601	CA	C	A49053603C	KMT2D	NM_003482.3(KMT2D):c.713del:p.Leu238fs	coding	Pathogenic
12	49053605	TC	T	C49053609T	KMT2D	NM_003482.3(KMT2D):c.709del:p.Glu237fs	coding	Pathogenic
12	49054046	C	CCG	T49054050G	KMT2D	NM_003482.3(KMT2D):c.603_604dup:p.Gly202fs	coding	Pathogenic
12	49054046	CCGCTGGCAGT	C	T49054050G	KMT2D	NM_003482.3(KMT2D):c.595_604del:p.Thr199fs	coding	Pathogenic
12	49054102	AGGGAT	A	G49054105A	KMT2D	NM_003482.4(KMT2D):c.544_548del:p.Ile182fs	coding	Pathogenic
12	49054112	G	GT	C49054113T	KMT2D	NM_003482.4(KMT2D):c.538_539insA:p.Ala180fs	coding	Pathogenic
12	49054115	CCGAGCCTGGTG	C	G49054117A	KMT2D	NM_003482.4(KMT2D):c.525_535del:p.Cys175fs	coding	Pathogenic
12	49054624	TC	T	C49054630A	KMT2D	NM_003482.3(KMT2D):c.303del:p.Ser102fs	coding	Pathogenic
12	49054624	T	TC	A49054631C	KMT2D	NM_003482.3(KMT2D):c.303dup:p.Ser102fs	coding	Pathogenic
12	49054630	CA	C	A49054631G	KMT2D	NM_003482.4(KMT2D):c.297del:p.Ser102fs	coding	Pathogenic
12	49054749	CCACTGTGGACA	C	T49054753A	KMT2D	NM_003482.4(KMT2D):c.177-9_178del	coding	Pathogenic
12	49054906	TC	T	C49054908T	KMT2D	NM_003482.4(KMT2D):c.169del:p.Asp57fs	coding	Pathogenic
12	49054942	CT	C	T49054943A	KMT2D	NM_003482.3(KMT2D):c.133del:p.Ser45fs	coding	Pathogenic
12	49089963	GC	G	C49089964A	DHH	NM_021044.4(DHH):c.1086del:p.Leu363fs	coding	Pathogenic
12	49090038	CG	C	G49090039T	DHH	NM_021044.4(DHH):c.1011del:p.Asn337fs	coding	Pathogenic
12	49091200	G	GGCGCGCCAGCAACCCATACTTGTTGCGGTCGCGGTCAGACGTAGTGATGTCCAAAGCACGGCCTTCGTAGTGGAGTGAATCCTGAGCGTGGTGGCCGTCCTCGTCCCAGCCCTCAGTCACTCGTAGGCGCACTCCGGGCCACATGTTCATCACGGCAATGGCCAAAGCGTTCACCCGCTCCTTACAACGCTGGCGGGGAATAAAGGAGTCAGTCTCCCCACCACCACCCTTGGGGCAAAAGGGACCTGGATAGGAGGGTTGATTCTTTGTTATTCCGGCCCTACTCTTACCCCTCCCAGCTTTTGAGTGTCCTGGAGAAATGAGAATCTGAGTCGATGGTAGTCACCAATCTGCACTCTGTTCCCAGGACGTCGTTGGAGAACTGTGGGCTCACCTCTGAGGTTGAGAGGGGGTGCCCATACCTAGCTCCTTCCCCATTTTTAATGCCCGTCCCTCACCCCTATTGGTTCAGGGACAGCGGCTCAACCTGGGAGAAGGACAGAGTTAGGAGGGCGAATGGAAGCGTGGTCAGGGAGGGCCTGGTTGCTCCCGGAGAGCCCCTGTTTGAGCCTGGCCCCCGCCCCAGGCACCGGCTCCCCTCCCTCCGCCTGATTCATCTTTTGTTTCATTGCCTTCCCTGGCACCGGGCATCGCTTCCTTCCTTCCTTCCTCCTCCTCCTTTGGGCCCTTAGCATTAACCCCTTCGTGCTCTGGGTGCCCCCCAGAGAGGTGCCCAAGAGGAGCTGTGCGGGATCAAGGCT	T49091964G	DHH	NM_021044.4(DHH):c.304-572_492dup	coding	Pathogenic
12	49950982	G	GT	A49950984T	AQP2	NM_000486.6(AQP2):c.153dup:p.Ile52fs	coding	Pathogenic
12	49954162	AC	A	C49954163A	AQP2	NM_000486.5(AQP2):c.369del:p.Asn123fs	coding	Pathogenic
12	49955511	TG	T	G49955513A	AQP2	NM_000486.5(AQP2):c.721del:p.Glu241fs	coding	Pathogenic
12	49955517	CG	C	G49955519A	AQP2	NM_000486.5(AQP2):c.727del:p.Asp243fs	coding	Pathogenic
12	49957896	TTCTC	T	C49957900A	AQP2	NM_000486.5(AQP2):c.*2292_*2295delCTCT	noncoding	Benign
12	50107704	C	CA	C50107706A	GPD1	NM_005276.4(GPD1):c.751dup:p.Thr251fs	coding	Pathogenic
12	50718952	CAG	C	A50718953C	DIP2B	NM_173602.3(DIP2B):c.2962-2_2962-1del	noncoding	Pathogenic
12	51346629	G	GC	G51346630C	CELA1	NM_001971.6(CELA1):c.9_10insG:p.Leu4fs	coding	Benign
12	51346630	GAC	G	A51346631C	CELA1	NM_001971.6(CELA1):c.7_8del:p.Val3fs	coding	Benign
12	51702656	GGTTATTTATTATCTCCAAGGTCATGGAGTAAATAGAATTAT	G	A51702683C	SCN8A	NM_001330260.2(SCN8A):c.993-90_993-50del	noncoding	Benign
12	51745923	T	TAAGAAGA	G51745934A	SCN8A	NM_001330260.2(SCN8A):c.2023_2029dup:p.Gly677fs	coding	Pathogenic
12	51751606	ACT	A	C51751607G	SCN8A	NM_001330260.2(SCN8A):c.2370+14_2370+15del	noncoding	Benign
12	51762587	A	AT	G51762593T	SCN8A	NM_001330260.2(SCN8A):c.2460dup:p.Asp821Ter	coding	Pathogenic
12	51786787	TGACAATGTTGGGGCAGGATA	T	G51786788C	SCN8A	NM_001330260.2(SCN8A):c.4189_4208del:p.Asp1397fs	coding	Pathogenic
12	51790421	GA	TG	G51790421T	SCN8A	NM_001330260.2(SCN8A):c.4443_4444delinsTG:p.Met1481_Thr1482delinsIleAla	coding	Pathogenic
12	51806641	CCT	C	C51806642G	SCN8A	NM_001330260.2(SCN8A):c.5156_5157del:p.Pro1719fs	coding	Pathogenic
12	51807428	AGAG	A	G51807432A	SCN8A	NM_001330260.2(SCN8A):c.5943GAG[1]:p.Ter1981=	coding	Benign/Likely_benign
12	51912510	GC	G	C51912511T	ACVRL1	NM_000020.2(ACVRL1):c.37del:p.Leu13fs	coding	Pathogenic
12	51912514	C	CT	G51912516T	ACVRL1	NM_000020.2(ACVRL1):c.41dup:p.Met15fs	coding	Pathogenic
12	51913106	TGTGAAGCC	T	G51913109C	ACVRL1	NM_000020.3(ACVRL1):c.72_79del:p.Lys25fs	coding	Pathogenic
12	51913119	CG	C	G51913123C	ACVRL1	NM_000020.3(ACVRL1):c.86del:p.Gly29fs	coding	Pathogenic
12	51913141	CG	C	G51913142T	ACVRL1	NM_000020.2(ACVRL1):c.105del:p.Cys36fs	coding	Pathogenic
12	51913162	A	AG	C51913167G	ACVRL1	NM_000020.3(ACVRL1):c.129dup:p.Pro44fs	coding	Pathogenic
12	51913174	G	GC	G51913177C	ACVRL1	NM_000020.3(ACVRL1):c.139dup:p.Arg47fs	coding	Pathogenic
12	51913176	C	CCG	G51913177C	ACVRL1	NM_000020.2(ACVRL1):c.139_140insCG:p.Arg47fs	coding	Pathogenic
12	51913176	C	CG	C51913183G	ACVRL1	NM_000020.2(ACVRL1):c.145dup:p.Ala49fs	coding	Pathogenic
12	51913176	CG	C	G51913182C	ACVRL1	NM_000020.2(ACVRL1):c.145del:p.Ala49fs	coding	Pathogenic
12	51913180	GGGCC	AGCCT	G51913180A	ACVRL1	NM_000020.3(ACVRL1):c.143_147delinsAGCCT:p.Gly48_Ala49delinsGluPro	coding	Pathogenic
12	51913218	AG	A	G51913220C	ACVRL1	NM_000020.2(ACVRL1):c.183del:p.Arg61fs	coding	Pathogenic
12	51913222	AC	A	C51913227A	ACVRL1	NM_000020.2(ACVRL1):c.190del:p.Gln64fs	coding	Pathogenic
12	51913269	A	AG	C51913275G	ACVRL1	NM_000020.3(ACVRL1):c.237dup:p.Arg80fs	coding	Pathogenic
12	51913269	AG	A	G51913274C	ACVRL1	NM_000020.3(ACVRL1):c.237del:p.Arg80fs	coding	Pathogenic
12	51913294	AC	A	C51913296A	ACVRL1	NM_000020.3(ACVRL1):c.259del:p.His87fs	coding	Pathogenic
12	51913307	CG	C	G51913308A	ACVRL1	NM_000020.2(ACVRL1):c.271del:p.Asp91fs	coding	Pathogenic
12	51913330	ACGTGT	A	G51913332C	ACVRL1	NM_000020.2(ACVRL1):c.295_299del:p.Val99fs	coding	Pathogenic
12	51913580	AG	A	G51913581C	ACVRL1	NM_000020.3(ACVRL1):c.336del:p.Gln112fs	coding	Pathogenic
12	51913616	G	GC	G51913621C	ACVRL1	NM_000020.3(ACVRL1):c.375dup:p.Val126fs	coding	Pathogenic
12	51913648	CTGGG	C	G51913651T	ACVRL1	NM_000020.2(ACVRL1):c.406_409del:p.Gly136fs	coding	Pathogenic
12	51913758	C	CA	G51913760A	ACVRL1	NM_000020.3(ACVRL1):c.514dup:p.Ser172fs	coding	Pathogenic
12	51913766	TG	T	G51913771T	ACVRL1	NM_000020.3(ACVRL1):c.525+1del	coding	Pathogenic
12	51913987	GTGAC	G	A51913990C	ACVRL1	NM_000020.2(ACVRL1):c.542_545del:p.Asp181fs	coding	Pathogenic
12	51913988	T	TA	G51913989A	ACVRL1	NM_000020.2(ACVRL1):c.540_541insA:p.Asp181fs	coding	Pathogenic
12	51914017	TC	T	C51914021T	ACVRL1	NM_000020.2(ACVRL1):c.573del:p.Phe192fs	coding	Pathogenic
12	51914065	AGT	A	T51914071G	ACVRL1	NM_001077401.2(ACVRL1):c.619_620TG[2]:p.Val208fs	coding	Pathogenic
12	51914071	TG	T	G51914074T	ACVRL1	NM_000020.3(ACVRL1):c.625+1del	coding	Pathogenic
12	51914179	TCAGAATTGGAATTCTGCTGGG	T	A51914183G	ACVRL1	NM_000020.3(ACVRL1):c.625+110_625+130del	noncoding	Benign
12	51914181	AGAATTGGAATTCTGCT	A	A51914183G	ACVRL1	NM_000020.3(ACVRL1):c.625+110_625+125del	noncoding	Benign
12	51914182	GAATTGGAATTCT	G	A51914183G	ACVRL1	NM_000020.3(ACVRL1):c.625+110_625+121del	noncoding	Benign
12	51914452	TG	T	G51914454C	ACVRL1	NM_000020.2(ACVRL1):c.641del:p.Gly214fs	coding	Pathogenic
12	51914466	GG	CC	G51914466C	ACVRL1	NM_001077401.2(ACVRL1):c.653_654inv:p.Arg218Pro	coding	Pathogenic
12	51914505	TCTC	T	C51914509G	ACVRL1	NM_001077401.2(ACVRL1):c.693_695CTC[1]:p.Ser233del	coding	Pathogenic
12	51914524	GTC	AG	G51914524A	ACVRL1	NM_001077401.2(ACVRL1):c.711_713delinsAG:p.Ser238fs	coding	Pathogenic
12	51914525	TC	T	C51914527T	ACVRL1	NM_000020.3(ACVRL1):c.714del:p.Trp239fs	coding	Pathogenic
12	51914552	AAC	A	C51914556G	ACVRL1	NM_001077401.2(ACVRL1):c.741_742CA[1]:p.Thr248fs	coding	Pathogenic
12	51914570	CACG	C	G51914573A	ACVRL1	NM_000020.2(ACVRL1):c.760_762del:p.Asp254del	coding	Pathogenic
12	51915259	G	GAGCACGCAGCTGT	G51915273A	ACVRL1	NM_000020.2(ACVRL1):c.808_820dup:p.Trp274Ter	coding	Pathogenic
12	51915299	GGCTCCC	TT	G51915299T	ACVRL1	NM_000020.3(ACVRL1):c.847_853delinsTT:p.Gly283fs	coding	Pathogenic
12	51915320	CAG	C	G51915324C	ACVRL1	NM_001077401.2(ACVRL1):c.870_871GA[1]:p.Arg291fs	coding	Pathogenic
12	51915321	AG	A	G51915322A	ACVRL1	NM_000020.2(ACVRL1):c.870del:p.Arg291fs	coding	Pathogenic
12	51915337	GC	G	C51915341A	ACVRL1	NM_000020.2(ACVRL1):c.889del:p.His297fs	coding	Pathogenic
12	51915367	CG	C	G51915368C	ACVRL1	NM_000020.2(ACVRL1):c.916del:p.Ala306fs	coding	Pathogenic
12	51915379	CCTGG	C	T51915381G	ACVRL1	NM_000020.3(ACVRL1):c.929_932del:p.Leu310fs	coding	Pathogenic
12	51915480	A	AGT	T51915485G	ACVRL1	NM_001077401.2(ACVRL1):c.1029_1030GT[3]:p.Cys345fs	coding	Pathogenic
12	51915485	TGCATC	T	A51915488C	ACVRL1	NM_000020.2(ACVRL1):c.1036_1040del:p.Ile346fs	coding	Pathogenic
12	51915491	GC	G	C51915493G	ACVRL1	NM_000020.3(ACVRL1):c.1041del:p.Asp348fs	coding	Pathogenic
12	51915493	CG	C	G51915494A	ACVRL1	NM_000020.2(ACVRL1):c.1042del:p.Asp348fs	coding	Pathogenic
12	51916041	GC	G	C51916042T	ACVRL1	NM_000020.3(ACVRL1):c.1055del:p.Ala352fs	coding	Pathogenic
12	51916100	C	CG	A51916101G	ACVRL1	NM_000020.2(ACVRL1):c.1113_1114insG	coding	Pathogenic
12	51916107	CG	C	G51916109T	ACVRL1	NM_000020.2(ACVRL1):c.1122del:p.Tyr375fs	coding	Pathogenic
12	51916129	TG	T	G51916131A	ACVRL1	NM_000020.2(ACVRL1):c.1144del:p.Asp382fs	coding	Pathogenic
12	51916138	A	AGATCC	C51916145A	ACVRL1	NM_000020.3(ACVRL1):c.1153_1157dup:p.Thr387fs	coding	Pathogenic
12	51918985	GCATCGTGGAGGACTATAGAC	G	T51918988C	ACVRL1	NM_000020.2(ACVRL1):c.1250_1269del:p.Ile417fs	coding	Pathogenic
12	51919060	T	TGG	T51919063G	ACVRL1	NM_000020.2(ACVRL1):c.1323_1324dup:p.Val442fs	coding	Pathogenic
12	51919061	G	GGT	G51919071T	ACVRL1	NM_000020.2(ACVRL1):c.1325_1326TG[5]:p.Asp445fs	coding	Pathogenic
12	51919068	G	GT	G51919070T	ACVRL1	NM_000020.3(ACVRL1):c.1331dup:p.Asp445fs	coding	Pathogenic
12	51919364	T	TTGTGTG	G51919365T	ACVRL1	NM_000020.3(ACVRL1):c.1377+249_1377+250insTGTGTG	noncoding	Benign
12	51920505	AT	A	T51920511A	ACVRL1	NM_000020.3(ACVRL1):c.1378-248del	noncoding	Benign
12	51920767	AG	A	G51920769C	ACVRL1	NM_000020.2(ACVRL1):c.1388del:p.Gly463fs	coding	Pathogenic
12	51920769	GC	G	C51920771T	ACVRL1	NM_000020.2(ACVRL1):c.1390del:p.Gly463_Leu464insTer	coding	Pathogenic
12	51920805	AC	A	C51920809T	ACVRL1	NM_000020.3(ACVRL1):c.1428del:p.Ser477fs	coding	Pathogenic
12	51920828	CT	C	T51920829G	ACVRL1	NM_000020.3(ACVRL1):c.1448del:p.Leu483fs	coding	Pathogenic
12	51920831	C	TG	C51920831T	ACVRL1	NM_001077401.2(ACVRL1):c.1450delinsTG:p.Arg484fs	coding	Pathogenic
12	51986839	TGATGA	T	G51986840A	ACVR1B	NM_004302.5(ACVR1B):c.1159_1163del:p.Asp387fs	coding	Pathogenic
12	51991356	TGGCTATGAAAAAAAATGTTCCTGGCTACTCTTTTGTATTTCTTTTTGTTTAGTTGTTTTGTTTGAGACAGAGTCTTGCACTCTTGTCCAGGCTGGAGTGCAGTGGCATGATCTCTGCTCACTGCAACCTCTGCCTCCAGGGTTCAAGCTATTCTCCTGCCTCAGCCTCCCTAGTAGCTGGGACTACAGGTGTTTGCCACCATGCCTGGTTAATTTTTGTATTTTTAGTAGAGATGGGGTTTTACCGTGTTGGCGGGGCTGGTTTCAAACTACTGATCTCAGGTGATCCGCTTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCATGCCCGGCCCCTTTTGTGTATTTCTTGTTCCATACTTAGAATTAACTAACTTTCTAAGGAACCTTAGGGGGTAGTGGTATTTACAGAGCACAGTGTAGGTTTTGTCACCGGCTTCTGAGTAATCTTTTCCTGCTGTTGATAACTCAGGTAGATACTTTCTTTTCTCCCAGGAGTCCATGAAGAATATCAGCTGCCATATTACGACTTAGTGCCCTCTGACCCTTCCATTGAGGAAATGCGAAAGGTTGTATGTGATCAGAAGCTGCGTCCCAACATCCCCAACTGGTGGCAGAGTTATGAGGTAAGAAGCTGGCCTCCTGC	T	A51991361T	ACVR1B	NM_004302.5(ACVR1B):c.1262-502_1392+24del	noncoding	Pathogenic
12	52314306	TC	T	C52314310A	KRT83	NM_002282.3(KRT83):c.*324del	noncoding	Benign
12	52316962	CT	C	T52316963G	KRT83	NM_002282.3(KRT83):c.811del:p.Ser271fs	coding	Pathogenic
12	52360927	CAG	C	A52360928G	KRT85	NM_002283.4(KRT85):c.1448_1449del:p.Pro483fs	coding	Pathogenic
12	52451560	CTTG	C	T52451567A	KRT6B	NM_005555.4(KRT6B):c.510_512CAA[2]:p.Asn172del	coding	Pathogenic
12	52469683	CCTCCAGCAGCTTGCGGTAGGTGGCGAT	C	G52469689C	KRT6C	NM_173086.5(KRT6C):c.1384_1410del:p.Ile462_Glu470del	coding	Pathogenic
12	52473219	CTTG	C	T52473226A	KRT6C	NM_173086.5(KRT6C):c.510_512CAA[2]:p.Asn172del	coding	Pathogenic
12	52492657	TGAA	T	A52492659G	KRT6A	NM_005554.4(KRT6A):c.529_531del:p.Phe177del	coding	Pathogenic
12	52492670	CTTG	C	T52492677A	KRT6A	NM_005554.4(KRT6A):c.510_512CAA[2]:p.Asn172del	coding	Pathogenic
12	52515065	GC	G	C52515071A	KRT5	NM_000424.4(KRT5):c.1649del:p.Gly550fs	coding	Pathogenic
12	52516666	G	GT	A52516668T	KRT5	NM_000424.4(KRT5):c.1409dup:p.Tyr470Ter	coding	Pathogenic
12	52519878	A	AT	A52519880T	KRT5	NM_000424.4(KRT5):c.418dup:p.Ile140fs	coding	Pathogenic
12	52651831	A	ACCTCCAAAGCCGCTGCCG	T52651842C	KRT2	NM_000423.3(KRT2):c.311_312insCGGCAGCGGCTTTGGAGG:p.Gly103_Phe108dup	coding	Benign
12	52651839	A	AGCC	T52651842C	KRT2	NM_000423.3(KRT2):c.303_304insGGC:p.Phe102_Gly103insGly	coding	Benign
12	52675262	A	AC	A52675268C	KRT1	NM_006121.4(KRT1):c.1865dup:p.Val623fs	coding	Pathogenic
12	52675438	CACCTCCGGAGCCGTAGCTGCT	C	G52675451A	KRT1	NM_006121.4(KRT1):c.1669_1689del:p.Ser557_Gly563del	coding	Benign
12	52675518	CC	T	C52675518T	KRT1	NM_006121.4(KRT1):c.1609_1610delinsA:p.Gly537fs	coding	Pathogenic
12	52675527	GAGCCATAGCTGCTACCTCCAGAGCCGT	G	T52675533C	KRT1	NM_006121.4(KRT1):c.1574_1600del:p.Tyr525_Gly533del	coding	Benign
12	52680016	TCCACCAAAGCCACCA	T	A52680053T	KRT1	NM_006121.4(KRT1):c.288_302TGGTGGCTTTGGTGG[2]:p.99_103FGGGG[2]	coding	Benign
12	52790167	C	CGCTGCCACCGCTGAAACCGCT	G52790195A	KRT3	NM_057088.3(KRT3):c.1741_1761dup:p.Ser581_Ser587dup	coding	Benign
12	52813618	CTTG	C	T52813625A	KRT4	NM_002272.4(KRT4):c.432_434CAA[2]:p.Asn146del	coding	Pathogenic
12	52813639	C	CTTG	G52813641T	KRT4	NM_002272.4(KRT4):c.419_420insCAA:p.Gln140delinsHisLys	coding	Pathogenic
12	52813799	C	CCACCAAAGCCACCAGTGCCGAAACCAGCTCCGAAGCCGCCGG	A52813819G	KRT4	NM_002272.4(KRT4):c.259_260insCCGGCGGCTTCGGAGCTGGTTTCGGCACTGGTGGCTTTGGTG:p.Gly87_Gly88insAlaGlyGlyPheGlyAlaGlyPheGlyThrGlyGlyPheGly	coding	Benign
12	53308339	C	CT	C53308341T	AAAS	NM_015665.6(AAAS):c.1191dup:p.Glu398fs	coding	Pathogenic
12	53308468	TCAGA	T	C53308473T	AAAS	NM_015665.6(AAAS):c.1140_1143TCTG[1]:p.Ser382fs	coding	Pathogenic/Likely_pathogenic
12	53308744	CAG	C	A53308745G	AAAS	NM_015665.6(AAAS):c.1066_1067del:p.Leu356fs	coding	Pathogenic
12	53308975	T	TA	G53308977A	AAAS	NM_015665.6(AAAS):c.980dup:p.Ser328fs	coding	Pathogenic
12	53315416	CCACTCAAA	C	C53315421G	AAAS	NM_015665.5(AAAS):c.310_317delTTTGAGTG:p.Phe104Glyfs	coding	Pathogenic
12	53321407	TCA	T	C53321408T	AAAS	NM_015665.6(AAAS):c.57_58del:p.Tyr19_Glu20delinsTer	coding	Pathogenic
12	53939258	AC	A	C53939261T	HOXC13	NM_017410.3(HOXC13):c.355del:p.Leu119fs	coding	Pathogenic
12	54283202	ACGGAGG	A	A54283212C	HNRNPA1	NM_031157.4(HNRNPA1):c.879_884AGGCGG[1]:p.Gly296_Gly297del	coding	Benign
12	54401483	G	GGAGGAGGGTGGTTTA	A54401510T	ITGA5	NM_002205.5(ITGA5):c.2388-20_2388-6dup	noncoding	Benign
12	55694802	TGAG	T	G55694803T	ITGA7	NM_002206.3(ITGA7):c.2169_2171del:p.Tyr723_Ser724delinsTer	coding	Pathogenic
12	55697502	GGAGCAATA	G	C55697506A	ITGA7	NM_002206.3(ITGA7):c.1446_1453del:p.Ile483fs	coding	Pathogenic
12	55697548	TG	T	G55697551A	ITGA7	NM_002206.3(ITGA7):c.1410-3del	noncoding	Benign/Likely_benign
12	55698013	AC	A	C55698016A	ITGA7	NM_002206.3(ITGA7):c.1205del:p.Gly402fs	coding	Pathogenic
12	55698486	A	AC	T55698493C	ITGA7	NM_002206.3(ITGA7):c.1088dup:p.His364fs	coding	Pathogenic
12	55698502	T	TA	C55698504A	ITGA7	NM_002206.3(ITGA7):c.1072dup:p.Tyr358fs	coding	Pathogenic
12	55721251	AGCCT	A	T55721255C	RDH5	NM_002905.5(RDH5):c.71_74del:p.Leu24fs	coding	Pathogenic
12	55721392	C	CGGGT	C55721399G	RDH5	NM_002905.5(RDH5):c.211_214dup:p.Ala72fs	coding	Pathogenic
12	55721788	CA	C	A55721790T	RDH5	NM_002905.5(RDH5):c.412del:p.Met138fs	coding	Pathogenic
12	55724027	T	TG	C55724035G	RDH5	NM_002905.5(RDH5):c.718dup:p.Ala240fs	coding	Pathogenic
12	55724401	CCT	C	C55724402G	RDH5	NM_002905.4(RDH5):c.814_815del:p.Leu272fs	coding	Pathogenic
12	55724516	C	GAAG	C55724516G	RDH5	NM_002905.4(RDH5):c.928delinsGAAG:p.Leu310delinsGluVal	coding	Pathogenic
12	55955270	T	TTACCTATATATATATATA	C55955282A	PMEL	NM_006928.4(PMEL):c.1850+3_1850+4insATATATAGGTATATATAT	noncoding	Benign
12	56042451	T	TG	C56042453G	RPS26	NM_001029.5(RPS26):c.31dup:p.Ala11fs	coding	Pathogenic
12	56042601	TG	T	G56042603T	RPS26	NM_001029.5(RPS26):c.181+1del	coding	Pathogenic
12	56043400	CTG	C	T56043405A	RPS26	NM_001029.5(RPS26):c.220_221TG[2]:p.Val75fs	coding	Pathogenic/Likely_pathogenic
12	56343472	CA	AG	C56343472A	STAT2	NM_005419.4(STAT2):c.2472_2473delinsCT:p.Gly825Cys	coding	Benign
12	56346888	AG	A	G56346890T	STAT2	NM_005419.4(STAT2):c.1791del:p.Leu599fs	coding	Pathogenic
12	56350095	AC	A	C56350097A	STAT2	NM_005419.4(STAT2):c.1209+1del	noncoding	Pathogenic
12	56350877	C	CTG	C56350879G	STAT2	NM_005419.4(STAT2):c.1045_1046insCA:p.Arg349fs	coding	Pathogenic
12	56351183	CA	C	A56351186G	STAT2	NM_005419.4(STAT2):c.948del:p.Phe316fs	coding	Pathogenic
12	56450041	C	CA	G56450053A	MIP	NM_012064.4(MIP):c.*1238dup	noncoding	Benign
12	56450516	GAA	G	A56450517G	MIP	NM_012064.4(MIP):c.*762_*763del	noncoding	Benign
12	56451131	GA	G	A56451147C	MIP	NM_012064.4(MIP):c.*148del	noncoding	Benign
12	56451433	AC	A	C56451438T	MIP	NM_012064.4(MIP):c.638del:p.Gly213fs	coding	Pathogenic
12	56451448	TG	T	G56451451C	MIP	NM_012064.4(MIP):c.623del:p.Pro208fs	coding	Pathogenic
12	56453080	T	TAGTGGAATGTTCCC	A56453085G	MIP	NM_012064.4(MIP):c.597_598insGGGAACATTCCACT:p.Asn200fs	coding	Pathogenic
12	56453607	A	AG	C56453611G	MIP	NM_012064.4(MIP):c.508dup:p.Leu170fs	coding	Pathogenic
12	56686880	CAT	C	T56686882A	PTGES3	NM_006601.7(PTGES3):c.2+1116_2+1117del	coding	Benign
12	56952967	AC	A	C56952971A	RDH16	NM_003708.4(RDH16):c.595del:p.Gly198_Val199insTer	coding	Benign
12	57015736	GC	G	C57015740A	TAC3	NM_013251.4(TAC3):c.61del:p.Ala21fs	coding	Pathogenic
12	57048218	CCTT	C	C57048219G	MYO1A	NM_005379.4(MYO1A):c.103_105del:p.Lys35del	coding	Benign
12	57173144	AGGCCCTCCACTGTC	A	G57173145C	LRP1	NM_002332.3(LRP1):c.3164-23_3164-10del	noncoding	Benign
12	57244576	TAGAG	T	A57244579C	STAC3	NM_145064.3(STAC3):c.761_762CT[1]:p.Leu255fs	coding	Pathogenic
12	57581469	GC	G	C57581470A	KIF5A	NM_004984.4(KIF5A):c.2811del:p.Thr938fs	coding	Pathogenic
12	57581511	TC	T	C57581513A	KIF5A	NM_004984.4(KIF5A):c.2854del:p.Gln952fs	coding	Pathogenic
12	57581880	TC	T	C57581882T	KIF5A	NM_004984.4(KIF5A):c.2922del:p.Cys975fs	coding	Pathogenic
12	57626900	A	AT	C57626902T	B4GALNT1	NM_001478.5(B4GALNT1):c.1445dup:p.Asp482fs	coding	Pathogenic
12	57631074	TG	T	G57631078A	B4GALNT1	NM_001478.5(B4GALNT1):c.395del:p.Pro132fs	coding	Pathogenic
12	57631319	G	GC	A57631328C	B4GALNT1	NM_001478.5(B4GALNT1):c.263dup:p.Leu89fs	coding	Pathogenic/Likely_pathogenic
12	57763698	T	TGGGTGGG	A57763713G	CYP27B1	NM_000785.4(CYP27B1):c.1312_1318CCCACCC[3]:p.Phe443fs	coding	Pathogenic
12	57765107	TG	T	G57765109A	CYP27B1	NM_000785.4(CYP27B1):c.693del:p.Thr232fs	coding	Pathogenic
12	57765169	TC	T	C57765171A	CYP27B1	NM_000785.4(CYP27B1):c.631del:p.Glu211fs	coding	Pathogenic
12	57766130	AC	A	C57766131G	CYP27B1	NM_000785.4(CYP27B1):c.262del:p.Val88fs	coding	Pathogenic
12	57766870	G	GC	T57766878C	CYP27B1	NM_000785.4(CYP27B1):c.171dup:p.Leu58fs	coding	Pathogenic
12	57766944	GCT	G	C57766945G	CYP27B1	NM_000785.4(CYP27B1):c.96_97del:p.Ala33fs	coding	Pathogenic
12	57766945	C	CT	G57766947T	CYP27B1	NM_000785.4(CYP27B1):c.96dup:p.Ala33fs	coding	Pathogenic
12	57767037	G	GTCATGGTCTGGT	G57767053T	CYP27B1	NM_000785.4(CYP27B1):c.-8_4dup:p.Thr2_Gln3insAsnGlnThrMet	coding	Pathogenic
12	57787074	TA	T	A57787078T	TSFM	NM_005726.6(TSFM):c.399del:p.Lys133fs	coding	Pathogenic
12	57787085	CTG	C	G57787087T	TSFM	NM_005726.6(TSFM):c.408_409del:p.Leu137fs	coding	Pathogenic
12	57802346	C	CA	C57802348A	AVIL	NM_001172697.1(TSFM):c.572-208dup	coding	Pathogenic
12	58876497	CTGG	C	T58876504C	LRIG3	NM_001136051.2(LRIG3):c.2454_2456CCA[2]:p.His820del	coding	Benign
12	62543204	TTC	T	C62543208T	MON2	NM_015026.3(MON2):c.2466+10_2466+11del	noncoding	Benign
12	63617338	GA	G	A63617339T	DPY19L2	NM_173812.5(DPY19L2):c.1183del:p.Ser395fs	coding	Pathogenic
12	63626530	T	TAA	C63626541A	DPY19L2	NM_173812.5(DPY19L2):c.804-14_804-13dup	noncoding	Benign
12	63780051	CG	C	G63780052C	RXYLT1	NM_014254.3(RXYLT1):c.92del:p.Arg31fs	coding	Pathogenic
12	63780075	TCCCCGCGGGGCCTCAGGAAGGGGGCGGC	T	G63780083C	RXYLT1	NM_014254.3(RXYLT1):c.123_150del:p.Leu43fs	coding	Pathogenic/Likely_pathogenic
12	63780094	AG	A	G63780099C	RXYLT1	NM_014254.3(RXYLT1):c.139del:p.Ala47fs	coding	Pathogenic
12	63781125	GA	G	A63781128G	RXYLT1	NM_014254.3(RXYLT1):c.279del:p.Gly94fs	coding	Pathogenic
12	63802301	AT	A	T63802303C	RXYLT1	NM_014254.3(RXYLT1):c.641del:p.Phe214fs	coding	Pathogenic/Likely_pathogenic
12	63802307	CA	C	A63802311G	RXYLT1	NM_014254.3(RXYLT1):c.649del:p.Arg217fs	coding	Pathogenic
12	63805284	AG	A	G63805285A	RXYLT1	NM_014254.3(RXYLT1):c.795del:p.Arg266fs	coding	Pathogenic
12	63808823	GACGTGATGACAGCTGGCAACTGTGGGAA	G	A63808824T	RXYLT1	NM_014254.3(RXYLT1):c.1064_1091del:p.Asp355fs	coding	Pathogenic
12	63809110	CAT	C	A63809111G	RXYLT1	NM_014254.3(RXYLT1):c.*19_*20del	noncoding	Benign
12	64455954	T	TA	G64455957A	TBK1	NM_013254.4(TBK1):c.86dup:p.Lys30fs	coding	Pathogenic
12	64464320	A	AT	C64464331T	TBK1	NM_013254.4(TBK1):c.229-4dup	noncoding	Benign
12	64466962	T	TA	T64466964A	TBK1	NM_013254.4(TBK1):c.421dup:p.Ile141fs	coding	Pathogenic
12	64481986	GA	G	A64481987C	TBK1	NM_013254.4(TBK1):c.958del:p.Thr320fs	coding	Pathogenic
12	64488477	CT	C	T64488484A	TBK1	NM_013254.4(TBK1):c.1341-3del	noncoding	Benign
12	64488488	GAATT	G	T64488495A	TBK1	NM_013254.4(TBK1):c.1345_1348TTAA[1]:p.Ile450fs	coding	Pathogenic
12	64488531	CAG	C	G64488533A	TBK1	NM_013254.4(TBK1):c.1387_1388del:p.Glu463fs	coding	Pathogenic
12	64497220	TGAA	T	A64497228T	TBK1	NM_013254.4(TBK1):c.1922_1924AAG[2]:p.Glu643del	coding	Pathogenic
12	64497252	CTAA	C	A64497254G	TBK1	NM_013254.4(TBK1):c.1954_1956del:p.Asn652del	coding	Benign
12	64723087	T	TC	G64723089C	GNS	NM_002076.4(GNS):c.1226dup:p.Ser410fs	coding	Pathogenic
12	64728956	CA	C	A64728960T	GNS	NM_002076.4(GNS):c.1199del:p.Ile399_Leu400insTer	coding	Pathogenic
12	64728986	CT	C	T64728987G	GNS	NM_002076.4(GNS):c.1169del:p.Gln390fs	coding	Pathogenic
12	64729017	T	TAGGAC	C64729018A	GNS	NM_002076.4(GNS):c.1138_1139insGTCCT:p.Asp380fs	coding	Pathogenic
12	64747927	GA	G	A64747930G	GNS	NM_002076.4(GNS):c.253-10del	noncoding	Benign/Likely_benign
12	64759250	A	AC	T64759253C	GNS	NM_002076.4(GNS):c.26dup:p.Arg10fs	coding	Pathogenic
12	65170378	C	CAGAGGAAG	G65170389A	LEMD3	NM_014319.5(LEMD3):c.785_792dup:p.Asp265fs	coding	Pathogenic
12	65238503	AT	A	T65238506A	LEMD3	NM_014319.5(LEMD3):c.1700del:p.Asp566_Leu567insTer	coding	Pathogenic
12	65828077	CA	C	A65828078G	HMGA2	NM_003483.4(HMGA2):c.189del:p.Ala64fs	coding	Pathogenic
12	65963237	TGTTCCAG	T	T65963239A	HMGA2	NM_003483.6(HMGA2):c.283-6_283del	noncoding	Pathogenic
12	65963263	TC	T	C65963265T	HMGA2	NM_003483.6(HMGA2):c.303del:p.Ser102fs	coding	Pathogenic
12	66347757	AT	A	T66347767A	GRIP1	NM_021150.4(GRIP1):c.*1261del	noncoding	Benign
12	66445515	GAAC	G	C66445518A	GRIP1	NM_001366722.1(GRIP1):c.1355-10_1355-8del	noncoding	Benign/Likely_benign
12	66455422	GTCTT	G	C66455428T	GRIP1	NM_021150.4(GRIP1):c.1177_1180AAGA[1]:p.Lys394fs	coding	Pathogenic
12	68157921	TAGTC	T	T68157924C	IFNG	NM_000619.3(IFNG):c.354_357del:p.Thr119fs	coding	Pathogenic
12	68158261	TA	T	A68158274G	IFNG	NM_000619.3(IFNG):c.115-3del	noncoding	Benign
12	68715733	CAGAAG	C	A68715736G	NUP107	NM_020401.4(NUP107):c.1079_1083del:p.Glu360fs	coding	Pathogenic
12	76345864	AAC	A	C76345866G	BBS10	NM_024685.4(BBS10):c.2119_2120del:p.Thr706_Val707insTer	coding	Pathogenic/Likely_pathogenic
12	76345932	AT	A	T76345935A	BBS10	NM_024685.4(BBS10):c.2052del:p.Lys684fs	coding	Pathogenic
12	76345954	AC	A	C76345956T	BBS10	NM_024685.4(BBS10):c.2030del:p.Gly677fs	coding	Pathogenic/Likely_pathogenic
12	76346025	AG	A	G76346026C	BBS10	NM_024685.4(BBS10):c.1959del:p.Pro655fs	coding	Pathogenic/Likely_pathogenic
12	76346119	ATGGCATTTTT	A	T76346126A	BBS10	NM_024685.4(BBS10):c.1856_1865del:p.Lys619fs	coding	Pathogenic
12	76346307	CG	C	G76346308T	BBS10	NM_024685.4(BBS10):c.1677del:p.Ser558_Tyr559insTer	coding	Pathogenic
12	76346308	G	GT	A76346310T	BBS10	NM_024685.4(BBS10):c.1676dup:p.Tyr559Ter	coding	Pathogenic
12	76346378	TAATC	T	A76346380G	BBS10	NM_024685.4(BBS10):c.1603_1606del:p.Asp535fs	coding	Pathogenic
12	76346382	CAGTT	C	T76346385C	BBS10	NM_024685.4(BBS10):c.1599_1602del:p.Thr534fs	coding	Pathogenic/Likely_pathogenic
12	76346437	TG	T	G76346438T	BBS10	NM_024685.4(BBS10):c.1547del:p.Thr516fs	coding	Pathogenic
12	76346464	TGAATACG	T	C76346470T	BBS10	NM_024685.4(BBS10):c.1514_1520del:p.Pro505fs	coding	Pathogenic
12	76346473	AAT	A	A76346478G	BBS10	NM_024685.4(BBS10):c.1506_1507AT[2]:p.Ile504fs	coding	Pathogenic
12	76346529	ATGTT	A	T76346532A	BBS10	NM_024685.4(BBS10):c.1452_1455del:p.Gln484fs	coding	Pathogenic
12	76346669	TG	T	G76346671T	BBS10	NM_024685.4(BBS10):c.1315del:p.Gln439fs	coding	Pathogenic
12	76346740	AT	A	T76346741G	BBS10	NM_024685.4(BBS10):c.1244del:p.His415fs	coding	Pathogenic
12	76346846	C	CT	G76346851T	BBS10	NM_024685.4(BBS10):c.1138dup:p.Arg380fs	coding	Pathogenic
12	76346893	GT	G	T76346895A	BBS10	NM_024685.4(BBS10):c.1091del:p.Asn364fs	coding	Pathogenic/Likely_pathogenic
12	76346939	GAA	G	A76346941G	BBS10	NM_024685.4(BBS10):c.1044_1045del:p.Pro350fs	coding	Pathogenic
12	76346960	A	AT	A76346962T	BBS10	NM_024685.4(BBS10):c.1024dup:p.Ile342fs	coding	Pathogenic
12	76347072	TCTGA	T	G76347075A	BBS10	NM_024685.4(BBS10):c.909_912del:p.Ser303fs	coding	Pathogenic
12	76347253	ATCTT	A	T76347257G	BBS10	NM_024685.4(BBS10):c.728_731del:p.Lys243fs	coding	Pathogenic/Likely_pathogenic
12	76347260	TG	T	G76347261A	BBS10	NM_024685.4(BBS10):c.724del:p.Gln242fs	coding	Pathogenic
12	76347297	CA	C	A76347298G	BBS10	NM_024685.4(BBS10):c.687del:p.Val230fs	coding	Pathogenic
12	76347338	T	TC	A76347340C	BBS10	NM_024685.4(BBS10):c.646dup:p.Asp216fs	coding	Pathogenic/Likely_pathogenic
12	76347423	TATG	T	G76347426T	BBS10	NM_024685.4(BBS10):c.559_561del:p.His187del	coding	Pathogenic
12	76347539	A	AG	T76347542G	BBS10	NM_024685.4(BBS10):c.445dup:p.Leu149fs	coding	Pathogenic
12	76347713	C	CA	G76347717A	BBS10	NM_024685.4(BBS10):c.271dup:p.Cys91fs	coding	Pathogenic
12	76347723	TAATAA	T	A76347725T	BBS10	NM_024685.4(BBS10):c.257_261del:p.Phe86fs	coding	Pathogenic
12	76347749	G	GT	G76347757T	BBS10	NM_024685.4(BBS10):c.235dup:p.Thr79fs	coding	Pathogenic/Likely_pathogenic
12	76348275	GC	CT	G76348275C	BBS10	NM_024685.4(BBS10):c.83_84delinsAG:p.Cys28Ter	coding	Pathogenic
12	76348312	TGCAACGCC	T	A76348315C	BBS10	NM_024685.4(BBS10):c.39_46del:p.Ala14fs	coding	Pathogenic
12	76348344	CATAGAA	C	A76348345C	BBS10	NM_024685.4(BBS10):c.9_14del:p.Ser3_Met5delinsArg	coding	Pathogenic
12	79798550	CAG	C	G79798552C	PPP1R12A	NM_002480.3(PPP1R12A):c.2033_2034del:p.Glu677_Ser678insTer	coding	Pathogenic
12	79817443	GT	G	T79817445G	PPP1R12A	NM_002480.3(PPP1R12A):c.1189del:p.Thr397fs	coding	Pathogenic
12	80219804	T	TC	T80219810C	OTOGL	NM_173591.3(OTOGL):c.209-5dup	noncoding	Benign
12	80239361	TG	T	G80239362C	OTOGL	NM_173591.3(OTOGL):c.948del:p.Leu316fs	coding	Pathogenic
12	80255054	GT	G	T80255055A	OTOGL	NM_173591.3(OTOGL):c.1430del:p.Val477fs	coding	Pathogenic
12	80302644	G	GT	C80302652T	OTOGL	NM_173591.3(OTOGL):c.3054dup:p.Leu1019fs	coding	Pathogenic
12	80336781	CT	C	T80336792C	OTOGL	NM_173591.3(OTOGL):c.4717-5del	noncoding	Benign
12	80352367	CT	C	T80352370C	OTOGL	NM_173591.3(OTOGL):c.5314del:p.Ser1772fs	coding	Pathogenic
12	80496546	T	TG	C80496547G	PTPRQ	NM_001145026.2(PTPRQ):c.2272+15_2272+16insG	noncoding	Benign
12	80542870	ATATAT	A	T80542875A	PTPRQ	NM_001145026.2(PTPRQ):c.3867_3871del:p.Tyr1289_Lys1291delinsTer	coding	Pathogenic
12	80613828	AAT	A	A80613831C	PTPRQ	NM_001145026.2(PTPRQ):c.5156_5157AT[1]:p.Ile1720fs	coding	Pathogenic
12	80717083	GCCAGTTCTCA	G	A80717086T	MYF5	NM_005593.3(MYF5):c.23_32del:p.Gln8fs	coding	Pathogenic
12	80845942	GA	G	A80845957G	LIN7A	NM_004664.3(LIN7A):c.274-4del	noncoding	Benign
12	81295039	TTAGA	T	A81295043G	PPFIA2	NM_003625.5(PPFIA2):c.2725-8_2725-5del	noncoding	Benign
12	88049279	A	AAAGT	T88049284A	CEP290	NM_025114.4(CEP290):c.7341_7344dup:p.Ser2449fs	coding	Pathogenic/Likely_pathogenic
12	88049282	G	GT	A88049290T	CEP290	NM_025114.4(CEP290):c.7341dup:p.Leu2448fs	coding	Pathogenic
12	88049291	C	CCTTCT	A88049302C	CEP290	NM_025114.4(CEP290):c.7323_7327AGAAG[3]:p.Val2445fs	coding	Pathogenic
12	88049291	CCTTCT	C	C88049297A	CEP290	NM_025114.4(CEP290):c.7323_7327AGAAG[1]:p.Glu2443fs	coding	Pathogenic
12	88049302	A	AAGAG	A88049308G	CEP290	NM_025114.4(CEP290):c.7318_7319CT[4]:p.Leu2441fs	coding	Pathogenic
12	88049337	A	ATACT	A88049344C	CEP290	NM_025114.4(CEP290):c.7283_7286dup:p.Tyr2429Ter	coding	Pathogenic
12	88049400	CTTCT	C	C88049403A	CEP290	NM_025114.4(CEP290):c.7220_7223del:p.Lys2407fs	coding	Pathogenic/Likely_pathogenic
12	88050409	AT	A	T88050415C	CEP290	NM_025114.4(CEP290):c.7153del:p.Lys2384_Ile2385insTer	coding	Pathogenic
12	88053703	G	GGATTA	A88053709G	CEP290	NM_025114.4(CEP290):c.7073_7077dup:p.His2360Ter	coding	Pathogenic
12	88053717	TTC	T	C88053721T	CEP290	NM_025114.4(CEP290):c.7060_7061GA[1]:p.Lys2355fs	coding	Pathogenic
12	88054346	AC	A	C88054347T	CEP290	NM_025114.4(CEP290):c.7027del:p.Val2343fs	coding	Pathogenic
12	88055615	TTC	T	C88055623G	CEP290	NM_025114.4(CEP290):c.6919_6920del:p.Glu2307fs	coding	Pathogenic
12	88055666	A	AT	G88055675T	CEP290	NM_025114.4(CEP290):c.6869dup:p.Asn2290fs	coding	Pathogenic
12	88055666	AT	A	T88055674G	CEP290	NM_025114.4(CEP290):c.6869del:p.Asn2290fs	coding	Pathogenic
12	88058905	C	CT	G88058907T	CEP290	NM_025114.4(CEP290):c.6760dup:p.Arg2254fs	coding	Pathogenic
12	88059938	AT	A	T88059944C	CEP290	NM_025114.4(CEP290):c.6604del:p.Ile2202fs	coding	Pathogenic
12	88060817	T	TA	T88060826A	CEP290	NM_025114.4(CEP290):c.6522+5dup	noncoding	Benign
12	88060835	AT	A	T88060840C	CEP290	NM_025114.4(CEP290):c.6516del:p.Lys2172fs	coding	Pathogenic/Likely_pathogenic
12	88060896	TTTCAACTG	T	A88060901T	CEP290	NM_025114.4(CEP290):c.6448_6455del:p.Gln2150fs	coding	Pathogenic
12	88062771	AC	A	C88062772T	CEP290	NM_025114.3(CEP290):c.6277delG:p.Val2093Serfs	coding	Pathogenic
12	88068603	TAAATCTTCTAC	T	A88068606C	CEP290	NM_025114.4(CEP290):c.6043_6053del:p.Val2015fs	coding	Pathogenic
12	88071369	GCTCGT	G	C88071370A	CEP290	NM_025114.4(CEP290):c.5931_5935del:p.Arg1978fs	coding	Pathogenic
12	88071430	TAA	T	A88071431G	CEP290	NM_025114.4(CEP290):c.5873_5874del:p.Leu1958fs	coding	Pathogenic
12	88071785	CA	C	A88071790G	CEP290	NM_025114.4(CEP290):c.5850del:p.Phe1950fs	coding	Pathogenic
12	88071818	TTAAAG	T	T88071824A	CEP290	NM_025114.3(CEP290):c.5813_5817delCTTTA:p.Thr1938Asnfs	coding	Pathogenic
12	88071890	T	TA	C88071892A	CEP290	NM_025114.4(CEP290):c.5745dup:p.Lys1916Ter	coding	Pathogenic
12	88071904	CTAAT	C	A88071910C	CEP290	NM_025114.3:c.5728_5731delATTA	coding	Pathogenic
12	88077281	G	GT	A88077288T	CEP290	NM_025114.4(CEP290):c.5649dup:p.Leu1884fs	coding	Pathogenic
12	88077316	CTTTG	C	G88077320A	CEP290	NM_025114.4(CEP290):c.5611_5614del:p.Gln1871fs	coding	Pathogenic
12	88077764	TTCTC	T	C88077768A	CEP290	NM_025114.4(CEP290):c.5515_5518del:p.Glu1839fs	coding	Pathogenic
12	88077770	C	CT	A88077772T	CEP290	NM_025114.4(CEP290):c.5512dup:p.Arg1838fs	coding	Pathogenic
12	88077789	CT	C	T88077794G	CEP290	NM_025114.4(CEP290):c.5493del:p.Ala1832fs	coding	Pathogenic
12	88077834	CAGTT	C	T88077838G	CEP290	NM_025114.4(CEP290):c.5445_5448del:p.Thr1816fs	coding	Pathogenic
12	88077847	TTC	T	C88077851G	CEP290	NM_025114.3(CEP290):c.5434_5435delGA:p.Glu1812Lysfs	coding	Pathogenic
12	88077867	TA	T	A88077869G	CEP290	NM_025114.4(CEP290):c.5415del:p.Thr1807fs	coding	Pathogenic
12	88080302	CTG	C	T88080305A	CEP290	NM_025114.4(CEP290):c.5104_5105del:p.Gln1702fs	coding	Pathogenic
12	88083056	TTA	T	T88083057C	CEP290	NM_025114.4(CEP290):c.4985_4986del:p.Val1662fs	coding	Pathogenic
12	88083075	TTC	T	C88083079T	CEP290	NM_025114.4(CEP290):c.4964_4965GA[1]:p.Glu1656fs	coding	Pathogenic
12	88083079	CTT	C	T88083081G	CEP290	NM_025114.4(CEP290):c.4962_4963del:p.Glu1656fs	coding	Pathogenic
12	88083178	CG	A	C88083178A	CEP290	NM_025114.4(CEP290):c.4864_4865delinsT:p.Arg1622fs	coding	Pathogenic
12	88083846	CCCAAG	C	A88083849G	CEP290	NM_025114.4(CEP290):c.4808_4812del:p.Ala1603fs	coding	Pathogenic
12	88084539	TA	T	A88084546C	CEP290	NM_025114.4(CEP290):c.4704+46del	noncoding	Benign
12	88084626	ACTT	A	C88084633T	CEP290	NM_025114.4(CEP290):c.4655AAG[2]:p.Glu1554del	coding	Pathogenic
12	88084668	GT	G	T88084671G	CEP290	NM_025114.4(CEP290):c.4621del:p.Thr1541fs	coding	Pathogenic
12	88084834	ATTCT	A	T88084839C	CEP290	NM_025114.4(CEP290):c.4448_4451AGAA[1]:p.Lys1484fs	coding	Pathogenic
12	88086091	TC	T	C88086093T	CEP290	NM_025114.4(CEP290):c.4384del:p.Glu1462fs	coding	Pathogenic
12	88086415	ATT	A	T88086418G	CEP290	NM_025114.4(CEP290):c.4276_4277del:p.Gln1425_Asn1426insTer	coding	Pathogenic
12	88086435	T	TG	T88086437G	CEP290	NM_025114.4(CEP290):c.4257dup:p.Ile1420fs	coding	Pathogenic
12	88086485	CT	C	T88086488C	CEP290	NM_025114.4(CEP290):c.4207del:p.Arg1403fs	coding	Pathogenic
12	88087814	C	CT	G88087816T	CEP290	NM_025114.4(CEP290):c.4159dup:p.Ser1387fs	coding	Pathogenic
12	88089032	CT	C	T88089036G	CEP290	NM_025114.4(CEP290):c.4028del:p.Lys1343fs	coding	Pathogenic
12	88089166	T	TA	G88089169A	CEP290	NM_025114.4(CEP290):c.3894dup:p.Lys1299Ter	coding	Pathogenic/Likely_pathogenic
12	88089277	GT	G	T88089281G	CEP290	NM_025114.4(CEP290):c.3783del:p.Lys1261fs	coding	Pathogenic
12	88089495	TA	T	A88089503T	CEP290	NM_025114.4(CEP290):c.3574-9del	noncoding	Benign
12	88090767	CT	C	T88090769G	CEP290	NM_025114.4(CEP290):c.3533del:p.Lys1178fs	coding	Pathogenic
12	88092680	C	CT	G88092684T	CEP290	NM_025114.4(CEP290):c.3462dup:p.Leu1155fs	coding	Pathogenic
12	88092719	T	TA	T88092722A	CEP290	NM_025114.4(CEP290):c.3422dup:p.Leu1141fs	coding	Pathogenic
12	88092832	GC	TT	G88092832T	CEP290	NM_025114.4(CEP290):c.3310-1_3310delinsAA	coding	Pathogenic
12	88093829	G	GTT	A88093831T	CEP290	NM_025114.4(CEP290):c.3249_3250insAA:p.Arg1084fs	coding	Pathogenic
12	88093866	C	CT	G88093868T	CEP290	NM_025114.4(CEP290):c.3212dup:p.Arg1072fs	coding	Pathogenic
12	88093873	TC	CA	T88093873C	CEP290	NM_025114.4(CEP290):c.3205_3206delinsTG:p.Glu1069Ter	coding	Pathogenic
12	88093893	CA	C	A88093894G	CEP290	NM_025114.4(CEP290):c.3185del:p.Leu1062fs	coding	Pathogenic
12	88093902	TA	T	A88093903T	CEP290	NM_025114.4(CEP290):c.3176del:p.Ile1059fs	coding	Pathogenic
12	88093903	A	AT	G88093912T	CEP290	NM_025114.4(CEP290):c.3175dup:p.Ile1059fs	coding	Pathogenic
12	88093955	T	TA	T88093957A	CEP290	NM_025114.4(CEP290):c.3123dup:p.Lys1042Ter	coding	Pathogenic
12	88102859	TG	T	G88102860T	CEP290	NM_025114.4(CEP290):c.2969del:p.Thr990fs	coding	Pathogenic
12	88106809	A	AT	C88106815T	CEP290	NM_025114.4(CEP290):c.2682dup:p.Ser895fs	coding	Pathogenic/Likely_pathogenic
12	88109158	CT	C	T88109165C	CEP290	NM_025114.4(CEP290):c.2390del:p.Lys797fs	coding	Pathogenic
12	88111251	C	CT	A88111253T	CEP290	NM_025114.4(CEP290):c.2317dup:p.Ser773fs	coding	Pathogenic
12	88111319	TAA	T	A88111322G	CEP290	NM_025114.4(CEP290):c.2248_2249del:p.Leu750fs	coding	Pathogenic
12	88111355	G	GA	T88111365A	CEP290	NM_025114.4(CEP290):c.2218-13dup	noncoding	Benign
12	88111787	A	AAGCTG	T88111794G	CEP290	NM_025114.4(CEP290):c.2119_2123dup:p.Thr709fs	coding	Pathogenic
12	88111798	CT	C	T88111800G	CEP290	NM_025114.4(CEP290):c.2112del:p.Val705fs	coding	Pathogenic
12	88114389	GA	G	A88114394C	CEP290	NM_025114.4(CEP290):c.2052+30del	noncoding	Benign/Likely_benign
12	88114417	TAC	T	C88114419T	CEP290	NM_025114.4(CEP290):c.2052+1_2052+2del	noncoding	Pathogenic
12	88114479	GA	G	A88114480T	CEP290	NM_025114.4(CEP290):c.1992del:p.Pro665fs	coding	Pathogenic
12	88115141	ATC	A	C88115145T	CEP290	NM_025114.4(CEP290):c.1862_1863GA[1]:p.Asp622fs	coding	Pathogenic
12	88115143	CTCTT	C	C88115149T	CEP290	NM_025114.4(CEP290):c.1856_1859AAGA[1]:p.Arg621fs	coding	Pathogenic
12	88115193	CAG	C	G88115199A	CEP290	NM_025114.4(CEP290):c.1825-17CT[2]	noncoding	Benign/Likely_benign
12	88118527	A	AT	C88118538T	CEP290	NM_025114.4(CEP290):c.1666dup:p.Ile556fs	coding	Pathogenic/Likely_pathogenic
12	88118527	AT	A	T88118537C	CEP290	NM_025114.4(CEP290):c.1666del:p.Ile556fs	coding	Pathogenic
12	88118527	ATT	A	T88118536C	CEP290	NM_025114.4(CEP290):c.1665_1666del:p.Lys555fs	coding	Pathogenic
12	88120120	GCTCT	G	C88120123A	CEP290	NM_025114.3(CEP290):c.1512_1515delAGAG:p.Arg504Serfs	coding	Pathogenic
12	88120120	GCT	G	C88120125A	CEP290	NM_025114.4(CEP290):c.1514_1515del:p.Glu505fs	coding	Pathogenic
12	88120184	CT	C	T88120187G	CEP290	NM_025114.4(CEP290):c.1451del:p.Lys484fs	coding	Pathogenic
12	88120212	CTTATT	C	T88120216A	CEP290	NM_025114.4(CEP290):c.1419_1423del:p.Ile474fs	coding	Pathogenic
12	88120242	AT	A	T88120245C	CEP290	NM_025114.4(CEP290):c.1393del:p.Glu464_Ile465insTer	coding	Pathogenic
12	88121017	TC	T	C88121018T	CEP290	NM_025114.4(CEP290):c.1338del:p.Arg447fs	coding	Pathogenic
12	88121135	CAT	C	A88121138G	CEP290	NM_025114.3(CEP290):c.1219_1220delAT:p.Met407Glufs	coding	Pathogenic
12	88129046	A	AC	A88129047C	CEP290	NM_025114.4(CEP290):c.853-12_853-11insG	noncoding	Benign
12	88129709	A	ATCGT	T88129715C	CEP290	NM_025114.4(CEP290):c.833_836dup:p.Asp279fs	coding	Pathogenic
12	88129717	CT	C	T88129724A	CEP290	NM_025114.4(CEP290):c.828del:p.Glu277fs	coding	Pathogenic
12	88130301	G	GT	A88130310T	CEP290	NM_025114.4(CEP290):c.635dup:p.Asn212fs	coding	Pathogenic
12	88136646	CT	C	T88136647C	CEP290	NM_025114.4(CEP290):c.437del:p.Glu146fs	coding	Pathogenic
12	88136696	CTCTA	C	A88136700T	CEP290	NM_025114.4(CEP290):c.384_387del:p.Asp128fs	coding	Pathogenic
12	88139149	A	AT	G88139150T	CEP290	NM_025114.4(CEP290):c.292_293insA:p.Leu98fs	coding	Pathogenic
12	88140968	CTGAG	C	G88140970A	CEP290	NM_025114.4(CEP290):c.164_167del:p.Thr55fs	coding	Pathogenic
12	88141305	CATCTTGAATT	C	A88141306C	CEP290	NM_025114.4(CEP290):c.-8_2del:p.Met1fs	coding	Pathogenic
12	88188870	GA	G	A88188872G	TMTC3	NM_181783.4(TMTC3):c.1462del:p.Arg488fs	coding	Pathogenic
12	88194862	C	CTT	A88194864T	TMTC3	NM_181783.4(TMTC3):c.1959_1960insTT:p.Arg654fs	coding	Pathogenic
12	88518757	TATGATGGAATAATTACT	A	T88518757A	KITLG	NM_000899.5(KITLG):c.286_303delinsT:p.Leu95_Ser96insTer	coding	Pathogenic
12	88518857	CAAT	C	A88518858G	KITLG	NM_000899.5(KITLG):c.200_202del:p.His67_Cys68delinsArg	coding	Pathogenic
12	88532513	C	CA	T88532525A	KITLG	NM_000899.5(KITLG):c.130-21dup	noncoding	Benign
12	89425160	C	CCT	G89425163C	POC1B	NM_172240.3(POC1B):c.1332_1333dup:p.Thr445fs	coding	Pathogenic
12	89497241	ACTG	A	T89497243A	POC1B	NM_172240.3(POC1B):c.199_201del:p.Gln67del	coding	Pathogenic
12	90978265	GA	G	A90978281G	EPYC	NM_004950.5(EPYC):c.166-4del	noncoding	Benign
12	91146170	GA	G	A91146172G	DCN	NM_001920.5(DCN):c.967del:p.Ser323fs	coding	Pathogenic
12	91146175	CT	C	T91146180G	DCN	NM_001920.5(DCN):c.962del:p.Lys321fs	coding	Pathogenic
12	91146190	TC	T	C91146192A	DCN	NM_001920.5(DCN):c.947del:p.Gly316fs	coding	Pathogenic
12	91146196	TG	T	G91146199C	DCN	NM_001920.5(DCN):c.941del:p.Pro314fs	coding	Pathogenic
12	94303749	T	TC	A94303754C	PLXNC1	NM_005761.3(PLXNC1):c.4387-3dup	noncoding	Benign
12	94308841	AGTT	A	G94308845T	CEP83	NM_016122.3(CEP83):c.2072_2074AAC[1]:p.Gln692del	coding	Pathogenic
12	94367899	ACTTT	A	T94367901A	CEP83	NM_016122.3(CEP83):c.1234_1237del:p.Lys412fs	coding	Pathogenic
12	94368118	G	GT	A94368120T	CEP83	NM_016122.3(CEP83):c.1131dup:p.Arg378fs	coding	Pathogenic
12	94368182	T	TTA	C94368184A	CEP83	NM_016122.3(CEP83):c.1067_1068insTA:p.Glu356fs	coding	Pathogenic
12	94403234	AGCAATTCCAATTTTTGTG	A	C94403236A	CEP83	NM_016122.3(CEP83):c.335_352del:p.Pro112_Leu117del	coding	Pathogenic
12	94411851	G	GT	A94411860T	CEP83	NM_016122.3(CEP83):c.174-12dup	noncoding	Benign
12	98546450	A	AT	C98546453T	TMPO	NM_001032283.3(TMPO):c.1079+5dup	noncoding	Benign
12	98595425	TCAAA	T	A98595428G	SLC25A3	NM_002635.4(SLC25A3):c.158-299_158-296del	noncoding	Benign
12	98601239	GGTAGCAGTGCTT	CAGATAC	G98601239C	SLC25A3	NM_002635.4(SLC25A3):c.883_895delinsCAGATAC:p.Gly295_Ser299delinsGlnIlePro	coding	Pathogenic
12	100326734	C	CG	T100326737G	SCYL2	NM_017988.6(SCYL2):c.1624dup:p.Val542fs	coding	Pathogenic
12	100418011	G	GT	G100418016T	SLC17A8	NM_139319.3(SLC17A8):c.1298-14dup	noncoding	Benign/Likely_benign
12	100511115	T	TAAA	T100511118A	NR1H4	NM_001206979.2(NR1H4):c.419_420insAAA:p.Asn140_Ala141insLys	coding	Pathogenic
12	101629407	ATCCTTTTCC	A	T101629414C	MYBPC1	NM_002465.4(MYBPC1):c.179-20_179-12del	noncoding	Benign
12	101653096	AC	A	C101653097T	MYBPC1	NM_002465.4(MYBPC1):c.1634-18del	noncoding	Benign
12	101729230	CAAGT	C	A101729231T	SYCP3	NM_001177949.2(SYCP3):c.553-21_553-18del	noncoding	Pathogenic
12	101731674	TATAAA	T	T101731676G	SYCP3	NM_001177949.2(SYCP3):c.454-13_454-9del	noncoding	Benign
12	101747190	CTTCT	C	C101747193G	GNPTAB	NM_024312.5(GNPTAB):c.3741_3744del:p.Glu1248fs	coding	Pathogenic
12	101753404	G	GT	C101753408T	GNPTAB	NM_024312.5(GNPTAB):c.3569dup:p.Asn1190fs	coding	Pathogenic
12	101753412	ACT	A	C101753417T	GNPTAB	NM_024312.5(GNPTAB):c.3556_3557AG[2]:p.Glu1187fs	coding	Pathogenic
12	101753444	GGGAACAT	G	A101753448T	GNPTAB	NM_024312.5(GNPTAB):c.3523_3529del:p.Met1175fs	coding	Pathogenic
12	101753469	TGA	T	G101753472A	GNPTAB	NM_024312.5(GNPTAB):c.3501_3502TC[1]:p.Leu1168fs	coding	Pathogenic
12	101753483	ACTGT	A	T101753487A	GNPTAB	NM_024312.5(GNPTAB):c.3487_3490del:p.Gln1162_Thr1163insTer	coding	Pathogenic
12	101753485	TG	T	G101753486T	GNPTAB	NM_024312.5(GNPTAB):c.3488del:p.Thr1163fs	coding	Pathogenic
12	101753498	TTA	T	A101753500G	GNPTAB	NM_024312.5(GNPTAB):c.3474_3475del:p.His1158fs	coding	Pathogenic
12	101753527	GCAAA	G	A101753533T	GNPTAB	NM_024312.5(GNPTAB):c.3439_3442TTTG[1]:p.Val1148fs	coding	Pathogenic
12	101757217	G	GT	C101757224T	GNPTAB	NM_024312.5(GNPTAB):c.3428dup:p.Asn1143fs	coding	Pathogenic
12	101757576	A	AT	G101757580T	GNPTAB	NM_024312.5(GNPTAB):c.3330dup:p.Tyr1111fs	coding	Pathogenic
12	101757580	G	GT	G101757586T	GNPTAB	NM_024312.5(GNPTAB):c.3326dup:p.Asn1109fs	coding	Pathogenic
12	101757596	GC	G	C101757597T	GNPTAB	NM_024312.5(GNPTAB):c.3310del:p.Ala1104fs	coding	Pathogenic
12	101757624	TAC	T	C101757626G	GNPTAB	NM_024312.5(GNPTAB):c.3281_3282del:p.Asn1093_Cys1094insTer	coding	Pathogenic
12	101757654	GT	G	T101757655G	GNPTAB	NM_024312.5(GNPTAB):c.3252del:p.Pro1085fs	coding	Pathogenic
12	101760044	A	AGTAG	A101760050T	GNPTAB	NM_024312.5(GNPTAB):c.3231_3234dup:p.Tyr1079fs	coding	Pathogenic
12	101760046	TA	T	A101760047G	GNPTAB	NM_024312.5(GNPTAB):c.3232del:p.Tyr1078fs	coding	Pathogenic
12	101760133	C	CG	C101760134G	GNPTAB	NM_024312.5(GNPTAB):c.3145_3146insC:p.Gly1049fs	coding	Pathogenic
12	101761167	GT	G	T101761169C	GNPTAB	NM_024312.5(GNPTAB):c.3094del:p.Thr1032fs	coding	Pathogenic
12	101761343	G	GA	C101761346A	GNPTAB	NM_024312.5(GNPTAB):c.2918dup:p.Pro974_Glu975insTer	coding	Pathogenic
12	101761582	AT	A	T101761583A	GNPTAB	NM_024312.5(GNPTAB):c.2896del:p.Met966fs	coding	Pathogenic
12	101761720	CTA	C	A101761722C	GNPTAB	NM_024312.5(GNPTAB):c.2757_2758del:p.Asp919fs	coding	Pathogenic
12	101764223	C	CT	C101764232T	GNPTAB	NM_024312.5(GNPTAB):c.2693dup:p.Tyr899fs	coding	Pathogenic
12	101764223	CT	C	T101764231C	GNPTAB	NM_024312.5(GNPTAB):c.2693del:p.Lys898fs	coding	Pathogenic/Likely_pathogenic
12	101764257	C	CT	A101764259T	GNPTAB	NM_024312.5(GNPTAB):c.2659dup:p.Ser887fs	coding	Pathogenic
12	101764325	T	TC	T101764326C	GNPTAB	NM_024312.5(GNPTAB):c.2591_2592insG:p.Asn865fs	coding	Pathogenic
12	101764341	TTC	T	C101764345T	GNPTAB	NM_024312.5(GNPTAB):c.2572_2573GA[1]:p.Asn859fs	coding	Pathogenic
12	101764372	CT	C	T101764376G	GNPTAB	NM_024312.5(GNPTAB):c.2544del:p.Glu849fs	coding	Pathogenic
12	101764398	ACAAT	A	A101764401G	GNPTAB	NM_024312.5(GNPTAB):c.2515_2518del:p.Ile839fs	coding	Pathogenic
12	101764414	GCTTTT	G	C101764420G	GNPTAB	NM_024312.5(GNPTAB):c.2498_2502del:p.Glu833fs	coding	Pathogenic
12	101764461	TC	T	C101764463A	GNPTAB	NM_024312.5(GNPTAB):c.2455del:p.Glu819fs	coding	Pathogenic
12	101764489	AG	A	G101764490T	GNPTAB	NM_024312.5(GNPTAB):c.2427del:p.Leu810fs	coding	Pathogenic
12	101764494	AG	A	G101764498T	GNPTAB	NM_024312.5(GNPTAB):c.2422del:p.Leu808fs	coding	Pathogenic
12	101764608	AC	A	C101764610T	GNPTAB	NM_024312.5(GNPTAB):c.2308del:p.Val770fs	coding	Pathogenic
12	101764666	GA	G	A101764667T	GNPTAB	NM_024312.5(GNPTAB):c.2250del:p.Gln751fs	coding	Pathogenic
12	101764667	A	AT	A101764674T	GNPTAB	NM_024312.5(GNPTAB):c.2249dup:p.Asn750fs	coding	Pathogenic
12	101764695	A	ATC	A101764698T	GNPTAB	NM_024312.5(GNPTAB):c.2220_2221dup:p.Met741fs	coding	Pathogenic
12	101764727	CA	C	A101764730T	GNPTAB	NM_024312.5(GNPTAB):c.2189del:p.Leu730fs	coding	Pathogenic
12	101764729	A	TTT	A101764729T	GNPTAB	NM_024312.5(GNPTAB):c.2188delinsAAA:p.Leu730fs	coding	Pathogenic
12	101764827	A	AG	A101764832G	GNPTAB	NM_024312.5(GNPTAB):c.2089dup:p.Leu697fs	coding	Pathogenic
12	101764844	T	TC	T101764845C	GNPTAB	NM_024312.5(GNPTAB):c.2072_2073insG:p.Glu692fs	coding	Pathogenic
12	101764848	T	TG	C101764852G	GNPTAB	NM_024312.5(GNPTAB):c.2068dup:p.Gln690fs	coding	Pathogenic
12	101764917	T	TA	C101764918A	GNPTAB	NM_024312.5(GNPTAB):c.1999_2000insT:p.Glu667fs	coding	Pathogenic
12	101764951	TG	T	G101764954A	GNPTAB	NM_024312.5(GNPTAB):c.1965del:p.Pro655_Ile656insTer	coding	Pathogenic
12	101764954	GACTA	G	C101764960A	GNPTAB	NM_024312.5(GNPTAB):c.1955_1958TAGT[1]:p.Ser654fs	coding	Pathogenic
12	101764956	CTA	C	T101764957A	GNPTAB	NM_024312.5(GNPTAB):c.1959_1960del:p.Pro655fs	coding	Pathogenic/Likely_pathogenic
12	101764960	C	CT	A101764962T	GNPTAB	NM_024312.5(GNPTAB):c.1956dup:p.Val653fs	coding	Pathogenic
12	101764985	TG	CA	T101764985C	GNPTAB	NM_024312.5(GNPTAB):c.1931_1932inv:p.Thr644Met	coding	Benign/Likely_benign
12	101765008	CCCTT	C	C101765009G	GNPTAB	NM_024312.5(GNPTAB):c.1905_1908del:p.Glu637fs	coding	Pathogenic
12	101765010	C	CT	G101765013T	GNPTAB	NM_024312.5(GNPTAB):c.1906dup:p.Arg636fs	coding	Pathogenic/Likely_pathogenic
12	101765175	C	CTATATATA	G101765180T	GNPTAB	NM_024312.4(GNPTAB):c.1738TATA[3]:p.Ser581Ilefs	coding	Pathogenic
12	101765215	AG	A	G101765216C	GNPTAB	NM_024312.5(GNPTAB):c.1701del:p.Phe568fs	coding	Pathogenic
12	101765291	T	TG	T101765292G	GNPTAB	NM_024312.5(GNPTAB):c.1625_1626insC:p.Glu542fs	coding	Pathogenic
12	101766121	AG	A	G101766123A	GNPTAB	NM_024312.5(GNPTAB):c.1581del:p.Cys528fs	coding	Pathogenic
12	101766191	GT	G	T101766192A	GNPTAB	NM_024312.5(GNPTAB):c.1511del:p.Tyr504fs	coding	Pathogenic
12	101768045	TC	T	C101768049A	GNPTAB	NM_024312.5(GNPTAB):c.1399del:p.Asp467fs	coding	Pathogenic
12	101768059	A	AT	C101768061T	GNPTAB	NM_024312.5(GNPTAB):c.1385dup:p.Asp462fs	coding	Pathogenic
12	101768113	A	AC	T101768116C	GNPTAB	NM_024312.5(GNPTAB):c.1331dup:p.Ser445fs	coding	Pathogenic
12	101770098	T	TA	C101770102A	GNPTAB	NM_024312.5(GNPTAB):c.1206dup:p.Ile403fs	coding	Pathogenic
12	101770110	A	ACAGC	C101770116A	GNPTAB	NM_024312.5(GNPTAB):c.1191_1194dup:p.Ser399fs	coding	Pathogenic
12	101770481	AAT	A	A101770484T	GNPTAB	NM_024312.5(GNPTAB):c.1034_1035AT[1]:p.Ile346fs	coding	Pathogenic
12	101770527	TA	T	A101770528C	GNPTAB	NM_024312.5(GNPTAB):c.991del:p.Tyr331fs	coding	Pathogenic
12	101771014	A	AT	C101771016T	GNPTAB	NM_024312.5(GNPTAB):c.914dup:p.Asp305fs	coding	Pathogenic
12	101771038	T	TA	T101771040A	GNPTAB	NM_024312.5(GNPTAB):c.890dup:p.Ser298fs	coding	Pathogenic
12	101771071	C	CT	C101771074T	GNPTAB	NM_024312.5(GNPTAB):c.857dup:p.Asn287fs	coding	Pathogenic
12	101771078	GT	G	T101771081G	GNPTAB	NM_024312.5(GNPTAB):c.850del:p.Thr284fs	coding	Pathogenic
12	101780163	TAGAGG	T	G101780165A	GNPTAB	NM_024312.5(GNPTAB):c.755_759del:p.Leu251_Ser252insTer	coding	Pathogenic
12	101780173	A	AT	C101780178T	GNPTAB	NM_024312.5(GNPTAB):c.749dup:p.Asn250fs	coding	Pathogenic/Likely_pathogenic
12	101780189	GTT	G	T101780193A	GNPTAB	NM_024312.5(GNPTAB):c.732_733del:p.Lys244fs	coding	Pathogenic
12	101780563	GCCCCT	G	C101780566A	GNPTAB	NM_024312.5(GNPTAB):c.625_629del:p.Arg209fs	coding	Pathogenic
12	101780573	ACTGT	A	T101780581C	GNPTAB	NM_024312.5(GNPTAB):c.612_615ACAG[1]:p.Thr206fs	coding	Pathogenic
12	101786065	G	GT	G101786066T	GNPTAB	NM_024312.5(GNPTAB):c.517_518insA:p.Pro173fs	coding	Pathogenic
12	101788567	TTG	T	G101788571T	GNPTAB	NM_024312.5(GNPTAB):c.342_343CA[1]:p.Thr115fs	coding	Pathogenic
12	101789917	G	GA	T101789928A	GNPTAB	NM_024312.5(GNPTAB):c.323+11dup	noncoding	Benign
12	101796708	CT	C	T101796709C	GNPTAB	NM_024312.5(GNPTAB):c.171del:p.Asp58fs	coding	Pathogenic
12	101796716	G	GA	T101796719A	GNPTAB	NM_024312.5(GNPTAB):c.163dup:p.Ser55fs	coding	Pathogenic
12	101796719	TCAAA	T	C101796724A	GNPTAB	NM_024312.5(GNPTAB):c.153_156TTTG[1]:p.Phe53fs	coding	Pathogenic
12	101796758	AC	A	C101796760A	GNPTAB	NM_024312.5(GNPTAB):c.121del:p.Val41fs	coding	Pathogenic
12	101830576	CG	C	G101830578A	GNPTAB	NM_024312.5(GNPTAB):c.99del:p.Ala34fs	coding	Pathogenic/Likely_pathogenic
12	101830713	AGCC	A	G101830735T	GNPTAB	NM_024312.5(GNPTAB):c.-62_-60GGC[7]	noncoding	Benign
12	102112163	C	CA	C102112166A	NUP37	NM_024057.4(NUP37):c.225dup:p.Asp76Ter	coding	Pathogenic
12	102396788	C	CT	A102396802T	IGF1	NM_000618.5(IGF1):c.*5718dup	noncoding	Benign
12	102839178	C	CT	A102839182T	PAH	NM_000277.3(PAH):c.1355dup:p.Ter453ValextTer?	coding	Pathogenic/Likely_pathogenic
12	102840395	CTTACTG	C	C102840399A	PAH	NM_000277.3(PAH):c.1314_1315+4del	noncoding	Pathogenic
12	102840495	GGTATT	G	A102840498G	PAH	NM_000277.3(PAH):c.1215_1219del:p.Ile406fs	coding	Pathogenic
12	102843646	CT	C	T102843648A	PAH	NM_000277.3(PAH):c.1198del:p.Arg400fs	coding	Pathogenic
12	102843672	ACT	A	C102843677G	PAH	NM_000277.3(PAH):c.1171_1172del:p.Ser391fs	coding	Pathogenic
12	102843691	AG	A	G102843695C	PAH	NM_000277.3(PAH):c.1153del:p.Leu385fs	coding	Pathogenic
12	102843695	GC	G	C102843696T	PAH	NM_000277.3(PAH):c.1149del:p.Gln383fs	coding	Pathogenic
12	102843715	TA	T	A102843717T	PAH	NM_000277.3(PAH):c.1129del:p.Tyr377fs	coding	Pathogenic
12	102843738	CAGCTCCAGGGGGAGA	C	C102843743T	PAH	NM_000277.3(PAH):c.1092_1106del:p.Leu365_Leu369del	coding	Pathogenic
12	102843745	AG	A	G102843750A	PAH	NM_000277.3(PAH):c.1099del:p.Leu367fs	coding	Pathogenic/Likely_pathogenic
12	102843746	G	GGGGGAGAAGCTTTGGCTTCTCTGATAAGA	C102843775A	PAH	NM_000277.3(PAH):c.1098_1099insTCTTATCAGAGAAGCCAAAGCTTCTCCCC:p.Leu367fs	coding	Pathogenic
12	102843755	GC	G	C102843756T	PAH	NM_000277.3(PAH):c.1089del:p.Lys363fs	coding	Pathogenic
12	102844345	AC	A	C102844347A	PAH	NM_000277.3(PAH):c.1055del:p.Gly352fs	coding	Pathogenic
12	102844362	GC	G	C102844365A	PAH	NM_000277.3(PAH):c.1038del:p.Leu347fs	coding	Pathogenic
12	102844376	GC	G	C102844378T	PAH	NM_000277.3(PAH):c.1024del:p.Ala342fs	coding	Pathogenic
12	102844424	CA	C	A102844425G	PAH	NM_000277.3(PAH):c.976del:p.Trp326fs	coding	Pathogenic
12	102846894	CTGT	C	T102846895G	PAH	NM_000277.3(PAH):c.968_970del:p.Thr323del	coding	Pathogenic
12	102846923	GGTGCACCCAGA	G	T102846925A	PAH	NM_000277.3(PAH):c.930_940del:p.Ser310_Leu311insTer	coding	Pathogenic
12	102846931	CAG	C	A102846936G	PAH	NM_000277.3(PAH):c.927_928CT[2]:p.Leu311fs	coding	Pathogenic
12	102846947	AT	A	T102846950C	PAH	NM_000277.3(PAH):c.916del:p.Ile306fs	coding	Pathogenic
12	102851691	GA	G	A102851695C	PAH	NM_000277.3(PAH):c.907del:p.Ser303fs	coding	Pathogenic
12	102852819	CG	C	G102852824T	PAH	NM_000277.3(PAH):c.837del:p.Glu280fs	coding	Pathogenic
12	102852824	GTATACATGGGC	G	A102852826T	PAH	NM_000277.3(PAH):c.822_832del:p.Lys274fs	coding	Pathogenic
12	102852850	GA	G	A102852851T	PAH	NM_000277.3(PAH):c.806del:p.Ile269fs	coding	Pathogenic
12	102852855	AC	A	C102852856T	PAH	NM_000277.3(PAH):c.801del:p.Gln267fs	coding	Pathogenic
12	102852919	AG	A	G102852920C	PAH	NM_000277.3(PAH):c.737del:p.Ala246fs	coding	Pathogenic
12	102852922	CA	TG	C102852922T	PAH	NM_000277.3(PAH):c.734_735inv:p.Val245Ala	coding	Pathogenic
12	102852934	GC	G	C102852935G	PAH	NM_000277.3(PAH):c.722del:p.Arg241fs	coding	Pathogenic
12	102852945	TGCAAGCTGGGATGAAAA	T	C102852947A	PAH	NM_000277.3(PAH):c.707-12_711del	coding	Pathogenic
12	102852951	CT	C	T102852952G	PAH	NM_000277.3(PAH):c.707-2del	noncoding	Pathogenic
12	102854488	CCTATTAAGCTACTCAGATTTCAATTCAGTCCAAATTCACTGAATACCTGCTGTATATGCAAGACTGTGCTGGTTGTTTCCATATGCAGCACCTTACTTCATTCTCATAATTTCCCTATGGGAAAAGCTAAAGAGTTGATACAGTGTCCATTTGACAGATGACAAAACTGAGGCAGGTTTACTCAGCTGGAGAGGATTGAAGGCAGGATTCATACCAGATGCACAGACTCAGAGCTCAGGGCTCTTGGCACCATCCCCGAAAATAGCACATTTCTTACACAAACACACACTCCTAACTCATAACACAGCAGGAACTACAGGGCAAACAAAACAAAACAAAACAAAAAAAAACCTCAGTGAAGCACCTTGGGCTTTAAGTGTGAAAGAAAATACTTTTCAGGGACAGGTACACGGCAAAATCCACAGCCTCAGGTGTTTGATTGAATGAAAGTGGATAAACACAGTAGGGGCTGGAGGGAAGGCAGAGCACAGTGAAATTTAGTTCTTCCTGGAGGAATCAACCTGCATGCATTCCTACAAGCACATGCTTTCATACTTGCCTCCACATACTTGTCTTCCCCTTCCCTCTCCTCTGCCTCAATCCTCCCCCAACTTTCTGCAGGGCCATTGACCCTGATGTGGACTTACTCTGCAGGAACTGAGAAACGTCTTCCAGCTGGGGAATGTTATCTTCATGGAAGCCACAGTACTTTTCAAGAAGTGGAAAAATGTGATTGTACTCATAGCAAGCATGGGTTTTATACAAGGACTTCAGAGTCTTGAACACTGTGCCCCATGTTTT	C	A102854491T	PAH	NM_000277.3(PAH):c.553_706+647del	noncoding	Pathogenic
12	102855155	G	GT	C102855157T	PAH	NM_000277.3(PAH):c.686dup:p.Asp229fs	coding	Pathogenic
12	102855155	GTCTTCCAGCT	G	T102855156G	PAH	NM_000277.3(PAH):c.677_686del:p.Gln226fs	coding	Pathogenic
12	102855176	ATC	A	C102855178T	PAH	NM_000277.3(PAH):c.664_665del:p.Glu221_Asp222insTer	coding	Pathogenic/Likely_pathogenic
12	102855209	TG	T	G102855211A	PAH	NM_000277.3(PAH):c.632del:p.Pro211fs	coding	Pathogenic
12	102855228	TCATAGCAAGCATGGGTTTTATA	T	T102855231A	PAH	NM_000277.3(PAH):c.592_613del:p.Tyr198fs	coding	Pathogenic
12	102855349	A	AAAT	G102855354A	PAH	NM_000277.3(PAH):c.510-20_510-18dup	noncoding	Benign
12	102866601	GT	G	T102866602A	PAH	NM_000277.3(PAH):c.503del:p.Tyr168fs	coding	Pathogenic
12	102866634	TC	GT	T102866634G	PAH	NM_000277.3(PAH):c.470_471delinsAC:p.Arg157Asn	coding	Pathogenic
12	102877501	CTGAT	C	A102877504G	PAH	NM_000277.3(PAH):c.398_401del:p.Asn133fs	coding	Pathogenic
12	102877537	TG	T	G102877540A	PAH	NM_000277.3(PAH):c.365del:p.Pro122fs	coding	Pathogenic
12	102877545	AG	A	G102877548C	PAH	NM_000277.3(PAH):c.357del:p.Trp120fs	coding	Pathogenic
12	102894736	TG	T	G102894737T	PAH	NM_000277.3(PAH):c.350del:p.Thr117fs	coding	Pathogenic
12	102894739	GTC	G	C102894741T	PAH	NM_000277.3(PAH):c.346_347del:p.Asp116fs	coding	Pathogenic
12	102894739	GTCTT	G	T102894744C	PAH	NM_000277.3(PAH):c.340_343AAGA[1]:p.Lys115fs	coding	Pathogenic
12	102894800	TTGA	T	A102894806T	PAH	NM_000277.3(PAH):c.281_283TCA[1]:p.Ile95del	coding	Pathogenic
12	102894820	A	AC	G102894821C	PAH	NM_000277.3(PAH):c.266_267insG:p.Ala90fs	coding	Pathogenic
12	102894820	A	AG	C102894823G	PAH	NM_000277.3(PAH):c.266dup:p.Ala90fs	coding	Pathogenic
12	102894847	G	GA	T102894853A	PAH	NM_000277.3(PAH):c.239dup:p.Thr81fs	coding	Pathogenic
12	102894876	GAGA	G	A102894879G	PAH	NM_000277.3(PAH):c.208_210del:p.Ser70del	coding	Pathogenic
12	102894880	A	AG	T102894883G	PAH	NM_000277.3(PAH):c.206dup:p.Ser70fs	coding	Pathogenic
12	102894892	AATGTG	A	A102894893G	PAH	NM_000277.3(PAH):c.190_194del:p.Thr63_His64insTer	coding	Pathogenic
12	102894896	T	TGG	T102894900G	PAH	NM_000277.3(PAH):c.189_190dup:p.His64fs	coding	Pathogenic
12	102894902	A	ATCAG	G102894903T	PAH	NM_000277.3(PAH):c.184_185insCTGA:p.Leu62fs	coding	Pathogenic
12	102894902	AG	A	G102894904T	PAH	NM_000277.3(PAH):c.184del:p.Asn61_Leu62insTer	coding	Pathogenic
12	102894914	TTC	T	T102894917C	PAH	NM_000277.3(PAH):c.169_170GA[1]:p.Glu57_Asn58insTer	coding	Pathogenic
12	102912793	CA	C	A102912796T	PAH	NM_000277.3(PAH):c.165del:p.Phe55fs	coding	Pathogenic
12	102912803	CA	C	A102912805T	PAH	NM_000277.3(PAH):c.155del:p.Leu52fs	coding	Pathogenic
12	102912821	AC	A	C102912823A	PAH	NM_000277.3(PAH):c.137del:p.Gly46fs	coding	Pathogenic
12	102912840	GAGA	G	A102912844T	PAH	NM_000277.3(PAH):c.113_115TCT[1]:p.Phe39del	coding	Pathogenic/Likely_pathogenic
12	102912847	T	TC	A102912849C	PAH	NM_000277.3(PAH):c.111dup:p.Ile38fs	coding	Pathogenic
12	102917082	CAG	C	A102917087T	PAH	NM_000277.3(PAH):c.43_44CT[2]:p.Leu15_Ser16insTer	coding	Pathogenic
12	102917082	C	CA	G102917084A	PAH	NM_000277.3(PAH):c.48dup:p.Asp17Ter	coding	Pathogenic
12	102917083	A	AAG	G102917084A	PAH	NM_000277.3(PAH):c.47_48insCT:p.Asp17fs	coding	Pathogenic
12	102917087	A	ACT	G102917088C	PAH	NM_000277.3(PAH):c.43_44insAG:p.Leu15fs	coding	Pathogenic
12	102917100	A	AG	C102917102G	PAH	NM_000277.3(PAH):c.30dup:p.Arg13fs	coding	Pathogenic
12	102917117	AC	A	C102917119G	PAH	NM_000277.3(PAH):c.13del:p.Val5fs	coding	Pathogenic
12	102917537	TGGACTAAGCCTGCGACCGTCTGGTATAACAATTATATGAATAATCCGCCCCCCTTACCCCCAGCTGAAACAGTCAGGATTCTCATTTAGATTTTTGTTGTTGTTGTTTTCCCTTCTGTTAACCTCTAAGCACACTGCCTTGCTGTGCGCTGACTTCAGAAAACTACAGCTAGAGGGCACGTGAACGCTGAGCACAGCAGGTAAAGAGCAAATGTAAGAGCGATCTGGGTTTAAATCCAGCCTGGTGTTCTCCAGCTATTCGCACAACTGCTCCTGAAGCTCGGAAAAGAGGGTGGTAGAGCCACCTTGCTGGAAGGTTTTAAGAATAGGAATAAAGAAATGCATTAAAATTTAGTACAGTTCTTCCACATAAACACTCAGTAAATGGAAGATATTGTTTAAAAGCAAATCCACATAAATTTGACAATAATTACTGAGACCTGTACCGTGTGCTTGGTGGTGTTCTAGTCTTTGGGAATACAGCAATGAACAAAACAGACTCTGCCTCCCCAGCTATGCTGCCATTCTGGTGGGCAGAAAATAAACATATAAATAAGTTTAGGTAGGGCTAAGTCTTTTGAAGAAAGTAAAGTAGGGGGATGGTCTATGAGTGAGCTGGTGGGATTTGGCCAGTGGTCTTCAAATAGTCAGGAAGATGCCATTAACCACACTTTTAGAGAAGACTGAGGGTGAGGCATTACTGACCAGGAGGTAAAACAAAGTATAAAAGAATGCTGGAAAGCAGGTTCAGAGGTTCAGAAAGGATGTGAAAACTCAGGGGCCTCAAGCCTTGAGTGCCTGCTTAATATTTTCCCAAGAGAAAGTAATGGGCTGTAAGAAAATAAGCCAATAATAAAGGTTGCTGGAAGCCCATCCCTCTCCTCCCACTGTTCTTTGACCAAGCATCTGAAAATAAATAAACAAATAAATAAATAAATAAGTAAAATAAAACTCAGGTTTAGGATTCAAAACAAGTGGTTTAACTCTTGGTTCTACCACTGATTTGGTCAAGCCCATGCCTCAGTTTTTTTTTGTTTTTTTTTTTTGTTTTGTTTTTGTCTTTAAAATGAGAATTTTAAGGGATATTTAGGATTCCTTAAGCCTTTATGATGTGCCAGGCTGTCTACTGTCTGCTAAGAATACAGATATAACAAGTGCAATTTCTGTCCAAAAGGAACCTTTAGGGGCCTGATGAATATTTCCCATAGTAAGTTGGAAGCTCAATGTTGTTAAATATTGAAGGCGAAGATCTTGATTTCCATCCTCAGGAGAATCTGTATTCTTTATCTGACTCCGGCATTTTTCAGTGTAGTAGACATAAAACATGTTGTATTCCTCAGCCTCAGGATTTTCTTACAAACATAATTTCATCCCTTGATGCTACTTGAGGGCAATGAATGTGACAACTCCAAAAATATTACAGGCATGCAATAAAGAAAAGCAAAGAATATTATCTACTTATTTGCATGCACACTCTGTCTTAGACACTGTGCCACGCTCTCCACGTGCATGGTTTCACTTCTTCCTCTTAACAATCCCATGAACTATGCACTCCCTTTTAATAGGCAAGAAACTGAGGCCTAGGAAGTTTAAACAAATGGCCCAAATTCAATCTATGTTTCACCCAACACCAAGGCACTGCACTGGCTCTCAAATACTTTTGCTTTCCTGTTTGAAATGAGGACAACATAATTTTTAGGACAACAAAATGATAGCTTTTCTTTCTTCTCCCCATAACAGCTGAAAATGCAACTCTTTTTTCTAATGTTTAATTTTTGTGGGAACATAGTAGATGTATGCATTCATGGAGTATGTGCAATATTTTGATACAGGCATGCAATGTGTAATAATCACATCATTGAAAATGGGGCATCCATCCCCTCAAGCATTTATCTTTTGTGTTGCAAACAAGCCAATTATACTCTTTCAGGTATTTTTAAATGTATAATTAAATTATTTTGACTATATTCGCCCTGTTGTACTATCAAATACTAGGTCTTATTCATTCTTTCTATATTTTTTTGTACCTATTAACCATCTCCACCTCCCCTCCAGGCCCCTACTACCCTTCCCCACCTCTGGTAATTAGCTCTCTACTCTCTAGCTCCATGAATCAGATTGTTTTGATTTTTAGACCCCACATATGAGTGAGAATATGTGATGTTTGGCTTTCTGTGCCTGGCTTATTTCATTTGACATAATGACCTCCAGTTCTGTCCATGTTATTGCAAATAACAGGATCTCATTCTTTTTTATTGCTGAATAGTACTCCATTGTGTATTAAAGTACCACATTTTTTTAAAACCCATGTTGATGGAGACTTGGGTTGCTTCCAGATCTTGGCTATTGTGAACAGTGCTGCAACAAACATAAAAGAACAGACATCTCTTTGATATACTGATTTCCTTTCTTATAGGTATATACCCAGCAGTGGGATCACTAGATCATATAGTAGCTCTATTTTTAGTTTTTTGGGGAACTGCCAAACTGTTCTCCATAGTGGTTGTACAAAAATGGAATTTTTAATCCTATCTCACATAAAAATGCCCTAAATCTAGGTTGAGAGGAAAGCACATCATTGCTATCTGAGAGAAGAAAAACTAATCGCTTCTTTAAAAAAAATTATTCTGGCAAAAAGGAAAAATTTATTTATGCACTAAGATAAAAATAAGAGATTGCTTGTGCCATAAACTTGCAGATGATTTTTAAGCCACCTTTTTGTTCAATTTGGTTGGAATGCAATGTGCTGCTATAATGAGAGCAGTGCTGGGTGCTAAGGAAATGGAGGAAAAAAAGGCACATCTAGAAGAAGCATCCACAGTCAGTCAGTAGACCACTGAGGTATTTTTTAACACTGCACAGAGGTGGGGAACATGTCACAAGATGAGAAGTTGTGTACTTGGCAAACTTAGAGCTGACCTTTGCTGATTTGGAAGTTGAAGATTACCCAACCATTGCAGGTTTATCAGTTCTTTCTTGTTTATCTTCATGTGCAGAAGGTTGAGTTAATCATAATCCATGAGTTCATGGCACAGAAACAAAACCTACATGACCCTTCTCTTGTTTTTTTATTCATTCTCTTTTATCATAATTCCTCACTCTCACTGCCTTTCCCCAGAGGCAACTTCTCTAATATGATGTTTAGCCTTGAACTTGTAAAATACATAGAAATGTTTGTGCGTATATGTATTTTTCATGGATATGTGATGTGGCACTATAGATTTACTACAATCTATGGATGTACTATAGATTTCATAGTTTCTTTTTTCTTTCAACTGTGTTCTTAGGATCCAGCCATGCTGCTGAATATGTATCTAGTTCTTTGCTTTTCTAAATGGTTCAGAATATCCCAGTGTGTATTTGCCACACTTGACTTCTTTATTTTCCAGTTATGGACATCTAAGTCATTGCTAATTTTTCACCACCCCAAACAATACTGTGATAAATTTCCTTATCTTTCTTCCCTTATAGGCCTGGGGTAGAAATTTTCTGGGATAGAAGAGTGGTGCTATTATGAATCATAGGGAACATGCACTCTTAATTTCACAAAGTGCTGCCAGATTGCCCTTTAGAGTGGCTTGGACCAGTCTACACACCAACCAGCAGGCAAAAGAGTTCCTATTGGTGGGTATACCTAATATGTGGTATTCTCCAAAGGTCAGAATTTTTGCCAATCTGATCAGCATAAGCTGGTGTCTTGTTGTTTTTAATTTGAATTTCTCTCATAACTCATGAGTTTGAGCATCTCTTTATATACTTA	T	G102917538T	PAH	NM_001354304.2(PAH):c.-95-4071_-95-313del	noncoding	Pathogenic
12	102958393	C	CGCA	G102958431C	ASCL1	NM_004316.4(ASCL1):c.151_153CAG[13]:p.Gln62dup	coding	Benign
12	102958393	C	CGCAGCA	G102958431C	ASCL1	NM_004316.4(ASCL1):c.151_153CAG[14]:p.Gln61_Gln62dup	coding	Benign/Likely_benign
12	102958393	C	CGCAGCAGCA	G102958431C	ASCL1	NM_004316.4(ASCL1):c.151_153CAG[15]:p.Gln60_Gln62dup	coding	Benign
12	102958393	CGCAGCAGCA	C	C102958422G	ASCL1	NM_004316.4(ASCL1):c.151_153CAG[9]:p.Gln60_Gln62del	coding	Benign
12	106427206	CTT	C	T106427207C	POLR3B	NM_018082.6(POLR3B):c.1112_1113del:p.Leu371fs	coding	Pathogenic
12	106432384	AT	A	T106432386G	POLR3B	NM_018082.6(POLR3B):c.1533del:p.Ile511fs	coding	Pathogenic
12	106444518	C	CT	A106444521T	POLR3B	NM_018082.6(POLR3B):c.2013dup:p.Ile672fs	coding	Pathogenic
12	108562641	TT	GG	T108562641G	ISCU	NM_014301.4(ISCU):c.-153_-152delinsGG	coding	Benign
12	108562750	A	AG	A108562754G	ISCU	NM_014301.4(ISCU):c.-58+17dup	noncoding	Benign
12	108565435	A	AG	T108565438G	ISCU	NM_014301.4(ISCU):c.264+6dup	noncoding	Benign
12	108623874	GGAGTGGTCTGTGCCTCCGTGGGCACTGGTT	G	G108623896C	SELPLG	NM_003006.4(SELPLG):c.404_433del:p.Gln135_Thr144del	coding	Benign
12	109188171	C	CTCCT	C109188235T	ACACB	NM_001093.4(ACACB):c.2144+10TCCT[16]	noncoding	Benign
12	109188171	CTCCTTCCT	C	T109188227C	ACACB	NM_001093.4(ACACB):c.2144+10TCCT[13]	noncoding	Benign
12	109188171	CTCCTTCCTTCCT	C	T109188223C	ACACB	NM_001093.4(ACACB):c.2144+10TCCT[12]	noncoding	Benign
12	109188171	CTCCTTCCTTCCTTCCT	C	T109188219C	ACACB	NM_001093.4(ACACB):c.2144+10TCCT[11]	noncoding	Benign
12	109188171	CTCCTTCCTTCCTTCCTTCCT	C	T109188215C	ACACB	NM_001093.4(ACACB):c.2144+10TCCT[10]	noncoding	Benign
12	109410075	AT	A	T109410079G	MYO1H	NM_001101421.3(MYO1H):c.1281+11del	noncoding	Benign
12	109483953	TC	T	C109483955T	UBE3B	NM_130466.4(UBE3B):c.256del:p.Leu86fs	coding	Pathogenic
12	109486577	TAAC	T	C109486580A	UBE3B	NM_130466.4(UBE3B):c.447+5_447+7del	noncoding	Benign
12	109486580	C	CAAAAAAA	G109486604A	UBE3B	NM_130466.4(UBE3B):c.447+22_447+28dup	noncoding	Benign
12	109521240	A	AG	A109521244G	UBE3B	NM_130466.4(UBE3B):c.2172dup:p.Ile725fs	coding	Pathogenic
12	109521289	AAG	A	A109521294T	UBE3B	NM_130466.4(UBE3B):c.2219_2220AG[2]:p.Arg741fs	coding	Pathogenic
12	109561046	TCGGCC	T	C109561051G	MMAB	NM_052845.4(MMAB):c.573_577del:p.Ala192fs	coding	Pathogenic
12	109561046	T	TCGGCCCGGCGGCACA	A109561071G	MMAB	NM_052845.4(MMAB):c.563_577dup:p.Val188_Ala192dup	coding	Pathogenic/Likely_pathogenic
12	109561051	C	CCGG	A109561059G	MMAB	NM_052845.4(MMAB):c.567_569CCG[3]:p.Arg191dup	coding	Pathogenic
12	109561854	T	TG	C109561861G	MMAB	NM_052845.4(MMAB):c.349-8dup	noncoding	Benign
12	109573424	GC	TT	G109573424T	MMAB	NM_052845.4(MMAB):c.56_57delinsAA:p.Arg19Gln	coding	Benign/Likely_benign
12	109574837	CCTACTGGTGTCTGCTCCGG	C	C109574838G	MVK	NM_000431.4(MVK):c.16_34del:p.Leu6fs	coding	Pathogenic
12	109574893	A	AT	G109574895T	MVK	NM_000431.3(MVK):c.72dupT:p.Gly25Trpfs	coding	Pathogenic
12	109576045	ACC	A	C109576048A	MVK	NM_000431.4(MVK):c.129_130del:p.His44fs	coding	Pathogenic
12	109581434	G	GC	G109581441C	MVK	NM_000431.3(MVK):c.417dupC:p.Gly140Argfs	coding	Pathogenic
12	109581440	C	CG	C109581445G	MVK	NM_000431.3(MVK):c.421dupG:p.Ala141Glyfs	coding	Pathogenic
12	109586806	TG	T	G109586811T	MVK	NM_000431.3(MVK):c.677+8delG	noncoding	Benign
12	109784361	AGGTCTCATTCTTGCCCG	A	T109784366C	TRPV4	NM_021625.4(TRPV4):c.2396_2412del:p.Pro799fs	coding	Pathogenic
12	109793945	C	CAGG	C109793950G	TRPV4	NM_021625.4(TRPV4):c.1566_1568dupCCT	coding	Pathogenic
12	110136800	CAA	C	A110136802G	IFT81	NM_014055.4(IFT81):c.723_724del:p.Arg242fs	coding	Pathogenic
12	110190985	ATC	GAAGT	A110190985G	IFT81	NM_014055.4(IFT81):c.1404_1406delinsGAAGT:p.Ser469fs	coding	Pathogenic
12	110292088	CAT	C	A110292091T	ATP2A2	NM_170665.4(ATP2A2):c.289_290AT[1]:p.Leu98fs	coding	Pathogenic
12	110340954	TC	T	C110340955G	ATP2A2	NM_170665.4(ATP2A2):c.2058del:p.Ile686fs	coding	Pathogenic
12	110342293	T	TG	C110342296G	ATP2A2	NM_170665.4(ATP2A2):c.2165dup:p.Thr723fs	coding	Pathogenic
12	110342387	TACA	T	A110342394T	ATP2A2	NM_170665.4(ATP2A2):c.2258_2260ACA[2]:p.Asn755del	coding	Pathogenic
12	110343370	TC	T	C110343374G	ATP2A2	NM_170665.4(ATP2A2):c.2461del:p.Arg821fs	coding	Pathogenic
12	110346190	CTG	C	G110346196C	ATP2A2	NM_170665.4(ATP2A2):c.2860-10TG[2]	noncoding	Benign/Likely_benign
12	110436687	G	GAAAAA	T110436697A	ARPC3	NM_001278556.2(ARPC3):c.253-13_253-9dup	noncoding	Benign
12	110436687	G	GAAAA	T110436697A	ARPC3	NM_001278556.2(ARPC3):c.253-13_253-10dup	noncoding	Benign
12	110522239	CA	C	A110522246G	RAD9B	NM_001286535.2(RAD9B):c.960del:p.Ala321fs	coding	Pathogenic
12	110530597	G	GC	A110530599C	RAD9B	NM_001286535.2(RAD9B):c.1199dup:p.Arg401fs	coding	Pathogenic
12	110531583	GGAAA	G	A110531587T	RAD9B	NM_001286535.2(RAD9B):c.*934_*937del	coding	Benign
12	110626455	G	GA	T110626457A	TCTN1	NM_001082538.3(TCTN1):c.436dup:p.Ile146fs	coding	Pathogenic
12	110628757	TAAA	T	A110628761C	TCTN1	NM_001082538.3(TCTN1):c.473-6_473-4del	noncoding	Benign/Likely_benign
12	110636500	AG	A	G110636502T	TCTN1	NM_001082538.3(TCTN1):c.843+1del	coding	Pathogenic
12	110640435	C	CCCGACGGGAGGACACTGATGTGCTGCAG	T110640469G	TCTN1	NM_001082538.3(TCTN1):c.902_929dup:p.Leu311_Val312insGlyGlyHisTer	coding	Pathogenic
12	110913198	CA	C	A110913199G	MYL2	NM_000432.3(MYL2):c.353+47del	noncoding	Benign
12	110913199	A	AG	C110913205G	MYL2	NM_000432.3(MYL2):c.353+42dup	noncoding	Benign
12	110913225	TC	T	C110913230A	MYL2	NM_000432.3(MYL2):c.353+20del	noncoding	Benign
12	110914169	C	CAG	C110914171G	MYL2	NM_000432.3(MYL2):c.274+16_274+17insTC	noncoding	Benign
12	110914170	A	AAG	C110914171A	MYL2	NM_000432.4(MYL2):c.274+15_274+16insCT	noncoding	Benign
12	110914176	AC	A	C110914177G	MYL2	NM_000432.3(MYL2):c.274+9del	noncoding	Benign
12	110919206	AG	A	G110919207C	MYL2	NM_000432.3(MYL2):c.4-14del	noncoding	Benign
12	111291555	AC	A	C111291556T	CUX2	NM_015267.4(CUX2):c.436+4del	noncoding	Benign
12	111418744	TGCTGC	T	G111418748A	SH2B3	NM_005475.2(SH2B3):c.603_607del:p.Arg202fs	coding	Pathogenic
12	111554227	T	TA	C111554242A	ATXN2	NM_002973.4(ATXN2):c.289-24dup	noncoding	Benign
12	112450356	CTGG	C	G112450359A	PTPN11	NM_002834.3(PTPN11):c.179_181delGTG:p.Gly60del	coding	Pathogenic
12	112450359	GTGA	G	G112450361T	PTPN11	NM_002834.4(PTPN11):c.181_183del:p.Asp61del	coding	Pathogenic
12	112450359	GTGA	T	G112450359T	PTPN11	NM_002834.4(PTPN11):c.179_182delinsT:p.Gly60_Asp61delinsVal	coding	Pathogenic
12	112450360	TG	AA	T112450360A	PTPN11	NM_002834.4(PTPN11):c.180_181delinsAA:p.Asp61Asn	coding	Pathogenic
12	112450368	AT	GC	A112450368G	PTPN11	NM_002834.4(PTPN11):c.188_189delinsGC:p.Tyr63Cys	coding	Pathogenic
12	112450397	AC	CT	A112450397C	PTPN11	NM_002834.5(PTPN11):c.217_218delinsCT:p.Thr73Leu	coding	Pathogenic
12	112453209	ATC	A	C112453215G	PTPN11	NM_002834.4(PTPN11):c.349_350CT[2]:p.Ser118fs	coding	Pathogenic
12	112453270	TGTACG	T	G112453271A	PTPN11	NM_002834.4(PTPN11):c.409_413del:p.Val137fs	coding	Pathogenic
12	112453270	TG	T	G112453271T	PTPN11	NM_002834.5(PTPN11):c.409del:p.Val137fs	coding	Pathogenic
12	112453320	CTGGTG	AAGAACACAGGGGAGAGCA	C112453320A	PTPN11	NM_002834.4(PTPN11):c.458_463delinsAAGAACACAGGGGAGAGCA:p.Thr153fs	coding	Pathogenic
12	112453364	AC	A	C112453367A	PTPN11	NM_002834.4(PTPN11):c.505del:p.His169fs	coding	Pathogenic
12	112454668	ACAACT	A	C112454672G	PTPN11	NM_002834.5(PTPN11):c.634_638del:p.Leu212fs	coding	Pathogenic
12	112455967	TA	T	A112455968T	PTPN11	NM_002834.4(PTPN11):c.661del:p.Arg220_Ile221insTer	coding	Pathogenic
12	112472948	T	TACA	G112472958A	PTPN11	NM_002834.5(PTPN11):c.768_770dup	coding	Pathogenic
12	112482127	C	CA	T112482129A	PTPN11	NM_002834.5(PTPN11):c.1147dup:p.Met383fs	coding	Pathogenic
12	112486563	TC	T	C112486565T	PTPN11	NM_002834.4(PTPN11):c.1315del:p.Leu439fs	coding	Pathogenic
12	112486587	AG	A	G112486589A	PTPN11	NM_002834.5(PTPN11):c.1339del:p.Glu447fs	coding	Pathogenic
12	112488465	AC	GA	A112488465G	PTPN11	NM_002834.4(PTPN11):c.1402_1403delinsGA:p.Thr468Glu	coding	Pathogenic
12	112489082	AG	CC	A112489082C	PTPN11	NM_002834.4(PTPN11):c.1506_1507delinsCC:p.Gly503Arg	coding	Pathogenic
12	112489093	AG	CC	A112489093C	PTPN11	NM_002834.4(PTPN11):c.1517_1518delinsCC:p.Gln506Pro	coding	Pathogenic
12	112505803	TCTTAA	T	A112505808T	PTPN11	NM_002834.5(PTPN11):c.*33-17_*33-13del	noncoding	Benign
12	114354146	GA	G	A114354156T	TBX5	NM_000192.3(TBX5):c.*1385del	noncoding	Benign
12	114355742	CT	C	T114355743G	TBX5	NM_000192.3(TBX5):c.1346del:p.Gln449fs	coding	Pathogenic
12	114355785	AG	A	G114355789C	TBX5	NM_000192.3(TBX5):c.1303del:p.Leu435fs	coding	Pathogenic
12	114355930	T	TG	C114355937G	TBX5	NM_000192.3(TBX5):c.1158dup:p.Ser387fs	coding	Pathogenic
12	114355973	CG	TGTAGGAGCGCCT	C114355973T	TBX5	NM_181486.4(TBX5):c.1115_1116delinsAGGCGCTCCTACA:p.Ser372Ter	coding	Pathogenic
12	114356014	GA	G	A114356015T	TBX5	NM_000192.3(TBX5):c.1074del:p.Pro359fs	coding	Pathogenic
12	114366168	TC	T	C114366170T	TBX5	NM_000192.3(TBX5):c.978del:p.Glu328fs	coding	Pathogenic
12	114366188	AT	A	T114366191G	TBX5	NM_000192.3(TBX5):c.958del:p.Ile320fs	coding	Pathogenic
12	114366219	GGT	G	G114366220T	TBX5	NM_000192.3(TBX5):c.926_927del:p.Asn309fs	coding	Pathogenic
12	114366222	TG	T	G114366225T	TBX5	NM_000192.3(TBX5):c.924del:p.Asn309fs	coding	Pathogenic
12	114366241	CT	C	T114366242G	TBX5	NM_181486.4(TBX5):c.905del:p.Gln302fs	coding	Pathogenic
12	114366332	CTG	C	T114366335G	TBX5	NM_181486.4(TBX5):c.813_814del:p.His271fs	coding	Pathogenic
12	114385501	GCT	G	T114385503C	TBX5	NM_000192.3(TBX5):c.728_729del:p.Glu243fs	coding	Pathogenic
12	114385503	TC	T	C114385505A	TBX5	NM_181486.4(TBX5):c.727del:p.Glu243fs	coding	Pathogenic
12	114385517	G	GC	G114385522C	TBX5	NM_000192.3(TBX5):c.713dup:p.Ser239fs	coding	Pathogenic
12	114385547	CTCAA	C	A114385550T	TBX5	NM_000192.3(TBX5):c.680_683del:p.Ile227fs	coding	Pathogenic
12	114394767	CTA	C	T114394770A	TBX5	NM_080717.3(TBX5):c.483_484TA[1]:p.Ile162fs	coding	Pathogenic
12	114394771	A	AAACG	C114394776A	TBX5	NM_000192.3(TBX5):c.629_632dup:p.Ile212fs	coding	Pathogenic
12	114394792	G	GT	G114394794T	TBX5	NM_000192.3(TBX5):c.611dup:p.His204fs	coding	Pathogenic
12	114394808	G	GT	A114394810T	TBX5	NM_000192.3(TBX5):c.595dup:p.Thr199fs	coding	Pathogenic
12	114394810	A	AT	G114394817T	TBX5	NM_000192.3(TBX5):c.593dup:p.Asn198fs	coding	Pathogenic
12	114394810	AT	A	T114394816G	TBX5	NM_181486.4(TBX5):c.593del:p.Asn198fs	coding	Pathogenic
12	114394831	A	ATTTTCATCCGCTTT	C114394846T	TBX5	NM_000192.3(TBX5):c.559_572dup:p.Asn191fs	coding	Pathogenic
12	114394865	TG	T	G114394867T	TBX5	NM_181486.4(TBX5):c.538del:p.Gln180fs	coding	Pathogenic
12	114398582	TG	T	G114398585T	TBX5	NM_000192.3(TBX5):c.500del:p.Pro167fs	coding	Pathogenic
12	114398586	TC	T	C114398588A	TBX5	NM_000192.3(TBX5):c.496del:p.Asp166fs	coding	Pathogenic
12	114398598	TTGGTGAGCTTGAGTTTC	T	T114398602A	TBX5	NM_000192.3(TBX5):c.468_484del:p.Lys157fs	coding	Pathogenic
12	114398606	CTTGA	C	T114398607G	TBX5	NM_000192.3(TBX5):c.473_476del:p.Leu158fs	coding	Pathogenic
12	114398616	TG	T	G114398618A	TBX5	NM_000192.3(TBX5):c.466del:p.Gln156fs	coding	Pathogenic
12	114398625	A	AC	G114398627C	TBX5	NM_000192.3(TBX5):c.457dup:p.Val153fs	coding	Pathogenic
12	114398626	CG	C	G114398627A	TBX5	NM_000192.3(TBX5):c.456del:p.Val153fs	coding	Pathogenic
12	114398640	CAATGCGCCCCGGTGGCGGGGGA	TCCTGG	C114398640T	TBX5	NM_000192.3(TBX5):c.421_443delinsCCAGGA:p.Ser141fs	coding	Pathogenic
12	114398650	C	CG	T114398653G	TBX5	NM_000192.3(TBX5):c.432dup:p.Gly145fs	coding	Pathogenic
12	114398650	CGGTGGCGGGGGAG	C	G114398651T	TBX5	NM_000192.3(TBX5):c.420_432del:p.Asp140fs	coding	Pathogenic
12	114398656	CG	C	G114398661A	TBX5	NM_000192.3(TBX5):c.426del:p.Ala143fs	coding	Pathogenic
12	114398666	TG	T	G114398669T	TBX5	NM_000192.3(TBX5):c.416del:p.Pro139fs	coding	Pathogenic
12	114398692	TG	T	G114398694C	TBX5	NM_000192.3(TBX5):c.390del:p.Met131fs	coding	Pathogenic
12	114399538	TG	T	G114399539T	TBX5	NM_000192.3(TBX5):c.336del:p.His112fs	coding	Pathogenic
12	114399574	TG	T	G114399575T	TBX5	NM_000192.3(TBX5):c.300del:p.Lys99_Tyr100insTer	coding	Pathogenic
12	114399596	G	GC	G114399600C	TBX5	NM_000192.3(TBX5):c.278dup:p.Leu94fs	coding	Pathogenic
12	114399625	ACATC	A	A114399627G	TBX5	NM_000192.3(TBX5):c.246_249del:p.Met83fs	coding	Pathogenic
12	114399628	TC	T	C114399630G	TBX5	NM_181486.4(TBX5):c.246del:p.Met83fs	coding	Pathogenic
12	114401829	CC	A	C114401829A	TBX5	NM_181486.4(TBX5):c.238_239delinsT:p.Ala79_Gly80insTer	coding	Pathogenic
12	114401865	TG	T	G114401867A	TBX5	NM_000192.3(TBX5):c.202del:p.His68fs	coding	Pathogenic
12	114401895	AGAAACACTTT	A	A114401898T	TBX5	NM_000192.3(TBX5):c.163_172del:p.Lys55fs	coding	Pathogenic
12	114401902	CTT	C	T114401904G	TBX5	NM_000192.3(TBX5):c.164_165del:p.Lys55fs	coding	Pathogenic
12	114403793	TG	T	G114403798C	TBX5	NM_000192.3(TBX5):c.105del:p.Ser36fs	coding	Pathogenic
12	114403793	T	TG	C114403799G	TBX5	NM_181486.4(TBX5):c.105dup:p.Ser36fs	coding	Pathogenic
12	114403825	T	TA	C114403826A	TBX5	NM_000192.3(TBX5):c.73_74insT:p.Asp25fs	coding	Pathogenic
12	114403829	AG	A	G114403832C	TBX5	NM_181486.4(TBX5):c.69del:p.Cys24fs	coding	Pathogenic
12	114672091	G	GGC	A114672094G	TBX3	NM_005996.4(TBX3):c.1920_1921dup:p.Pro641fs	coding	Pathogenic
12	114682973	GA	G	A114682974T	TBX3	NM_005996.4(TBX3):c.227del:p.Ile76fs	coding	Pathogenic
12	114683112	A	AT	G114683114T	TBX3	NM_005996.4(TBX3):c.88dup:p.Met30fs	coding	Pathogenic
12	114683790	TA	T	A114683803T	TBX3	NM_005996.4(TBX3):c.-591del	noncoding	Benign
12	115966184	C	CA	G115966186A	MED13L	NM_015335.4(MED13L):c.6284dup:p.Ala2096fs	coding	Pathogenic
12	115966208	TG	T	G115966210T	MED13L	NM_015335.4(MED13L):c.6260del:p.Pro2087fs	coding	Pathogenic
12	115969039	TAATATGCC	T	G115969045C	MED13L	NM_015335.4(MED13L):c.6118_6125del:p.Gly2040fs	coding	Pathogenic
12	115969091	A	AT	A115969093T	MED13L	NM_015335.4(MED13L):c.6073dup:p.Met2025fs	coding	Pathogenic
12	115970670	C	CA	G115970673A	MED13L	NM_015335.5(MED13L):c.5990dup:p.Leu1997fs	coding	Pathogenic
12	115970710	TGA	T	G115970713T	MED13L	NM_015335.4(MED13L):c.5947_5948TC[1]:p.Gln1984fs	coding	Pathogenic
12	115972161	CCACACATCCGG	C	G115972171T	MED13L	NM_015335.5(MED13L):c.5796_5806del:p.Cys1932fs	coding	Pathogenic
12	115975600	CG	C	G115975601T	MED13L	NM_015335.4(MED13L):c.5502del:p.His1834fs	coding	Pathogenic
12	115975658	CG	C	G115975659T	MED13L	NM_015335.4(MED13L):c.5444del:p.Thr1815fs	coding	Pathogenic
12	115980828	CA	C	A115980829G	MED13L	NM_015335.4(MED13L):c.5285del:p.Leu1762fs	coding	Pathogenic
12	115982405	CAT	C	A115982408G	MED13L	NM_015335.4(MED13L):c.5150_5151AT[1]:p.Met1718fs	coding	Pathogenic
12	115982475	G	GA	G115982478A	MED13L	NM_015335.4(MED13L):c.5083dup:p.Ser1695fs	coding	Pathogenic
12	115983149	GCT	G	C115983152G	MED13L	NM_015335.5(MED13L):c.4921_4922del:p.Ser1641fs	coding	Pathogenic
12	115983355	GA	G	A115983356T	MED13L	NM_015335.4(MED13L):c.4716del:p.Pro1573fs	coding	Pathogenic
12	115983449	CG	C	G115983450T	MED13L	NM_015335.5(MED13L):c.4622del:p.Thr1541fs	coding	Pathogenic
12	115983494	TG	T	G115983496T	MED13L	NM_015335.4(MED13L):c.4577del:p.Pro1526fs	coding	Pathogenic
12	115984237	CCTCGCCG	C	G115984241C	MED13L	NM_015335.5(MED13L):c.4467_4473del:p.Ser1489fs	coding	Pathogenic
12	115984258	TA	T	A115984261C	MED13L	NM_015335.4(MED13L):c.4452del:p.Phe1484fs	coding	Pathogenic
12	115984297	CCA	C	C115984300G	MED13L	NM_015335.5(MED13L):c.4410_4411TG[1]:p.Val1471fs	coding	Pathogenic
12	115984307	T	TC	A115984311C	MED13L	NM_015335.4(MED13L):c.4403dup:p.Thr1470fs	coding	Pathogenic
12	115986314	CA	TT	C115986314T	MED13L	NM_015335.5(MED13L):c.4289_4290delinsAA:p.Leu1430Ter	coding	Pathogenic
12	115986483	TC	T	C115986485G	MED13L	NM_015335.5(MED13L):c.4120del:p.Glu1374fs	coding	Pathogenic
12	115987139	AC	A	C115987140T	MED13L	NM_015335.5(MED13L):c.4083del:p.Gln1361fs	coding	Pathogenic
12	115991041	GCA	G	C115991044G	MED13L	NM_015335.4(MED13L):c.3909_3910TG[1]:p.Val1304fs	coding	Pathogenic
12	115991188	AG	A	G115991191A	MED13L	NM_015335.4(MED13L):c.3765del:p.Cys1256fs	coding	Pathogenic
12	115991433	TAG	A	T115991433A	MED13L	NM_015335.4(MED13L):c.3519_3521delinsT:p.Tyr1174fs	coding	Pathogenic
12	115996557	AACAG	A	A115996562G	MED13L	NM_015335.4(MED13L):c.2907_2910CTGT[1]:p.Leu971fs	coding	Pathogenic
12	116003067	AG	A	G116003069C	MED13L	NM_015335.4(MED13L):c.2504del:p.Pro835fs	coding	Pathogenic
12	116005938	T	TA	C116005940A	MED13L	NM_015335.4(MED13L):c.2399dup:p.Thr801fs	coding	Pathogenic
12	116006306	CTGTT	C	G116006308T	MED13L	NM_015335.5(MED13L):c.2340_2343del:p.Thr781fs	coding	Pathogenic
12	116006332	GAC	G	C116006334T	MED13L	NM_015335.4(MED13L):c.2316_2317del:p.Met772fs	coding	Pathogenic
12	116007558	G	GAGTGGCTC	T116007559A	MED13L	NM_015335.5(MED13L):c.2090_2091insGAGCCACT:p.Asp697fs	coding	Pathogenic
12	116008415	GCTCT	G	C116008418G	MED13L	NM_015335.4(MED13L):c.1992_1993AG[1]:p.Glu665fs	coding	Pathogenic
12	116008420	C	CT	G116008422T	MED13L	NM_015335.4(MED13L):c.1992dup:p.Glu665fs	coding	Pathogenic
12	116008441	CA	C	A116008442T	MED13L	NM_015335.4(MED13L):c.1971del:p.Asp657fs	coding	Pathogenic
12	116008464	TCTGGAGGC	T	G116008468A	MED13L	NM_015335.5(MED13L):c.1941_1948del:p.Pro648fs	coding	Pathogenic
12	116008553	CCC	TGTTCGAG	C116008553T	MED13L	NM_015335.4(MED13L):c.1858_1860delinsCTCGAACA:p.Gly620fs	coding	Pathogenic
12	116008560	T	TA	T116008562A	MED13L	NM_015335.5(MED13L):c.1852dup:p.Tyr618fs	coding	Pathogenic
12	116008703	ACT	A	C116008708G	MED13L	NM_015335.4(MED13L):c.1704_1705AG[2]:p.Ser570fs	coding	Pathogenic
12	116008916	C	CA	T116008918A	MED13L	NM_015335.5(MED13L):c.1496dup:p.Met499fs	coding	Pathogenic
12	116012890	AT	A	T116012893G	MED13L	NM_015335.4(MED13L):c.1186del:p.Met396fs	coding	Pathogenic
12	116015173	TTG	T	T116015174G	MED13L	NM_015335.4(MED13L):c.1109_1110del:p.Pro370fs	coding	Pathogenic
12	116015190	GATCTCTTTGGACTGTGC	G	T116015194G	MED13L	NM_015335.5(MED13L):c.1077_1093del:p.Met359fs	coding	Pathogenic
12	116019354	CG	C	G116019357A	MED13L	NM_015335.4(MED13L):c.878del:p.Pro293fs	coding	Pathogenic
12	116019849	TTC	T	C116019851T	MED13L	NM_015335.5(MED13L):c.747_748del:p.Lys250fs	coding	Pathogenic
12	116019970	G	GT	A116019972T	MED13L	NM_015335.5(MED13L):c.627dup:p.Leu210fs	coding	Pathogenic
12	116022473	G	GA	G116022476A	MED13L	NM_015335.4(MED13L):c.607dup:p.Ser203fs	coding	Pathogenic
12	116022564	CA	AT	C116022564A	MED13L	NM_015335.4(MED13L):c.516_517delinsAT:p.His172_Gly173delinsGlnTer	coding	Pathogenic
12	116096746	T	TA	G116096748A	MED13L	NM_015335.5(MED13L):c.401dup:p.Met135fs	coding	Pathogenic
12	116237483	GTA	G	A116237485T	MED13L	NM_015335.5(MED13L):c.293_294del:p.Ile98fs	coding	Pathogenic
12	116237653	T	TC	A116237658C	MED13L	NM_015335.4(MED13L):c.124dup:p.Asp42fs	coding	Pathogenic
12	116237695	G	GT	G116237697T	MED13L	NM_015335.5(MED13L):c.82dup:p.Thr28fs	coding	Pathogenic
12	116237709	GA	G	A116237714G	MED13L	NM_015335.4(MED13L):c.73-5del	noncoding	Benign
12	116277097	GC	G	C116277101G	MED13L	NM_015335.5(MED13L):c.34del:p.Ala12fs	coding	Pathogenic
12	118068522	TTCCTCC	T	C118068543T	VSIG10	NM_019086.6(VSIG10):c.1398_1400GGA[6]:p.Glu473_Glu474del	coding	Benign
12	119752249	T	TGAGA	C119752254G	CIT	NM_001206999.2(CIT):c.2707-6TC[4]	noncoding	Benign
12	119752254	CAG	C	G119752268A	CIT	NM_001206999.2(CIT):c.2707-21CT[6]	noncoding	Benign
12	119876130	ATCCAAAGGAT	A	A119876134G	CIT	NM_001206999.2(CIT):c.29_38del:p.Asn10fs	coding	Pathogenic
12	120440443	TCACTC	T	T120440447A	COX6A1	NM_004373.4(COX6A1):c.247-7_247-3del	noncoding	Pathogenic
12	120737012	TC	T	C120737013T	ACADS	NM_000017.4(ACADS):c.238del:p.Leu80fs	coding	Pathogenic
12	120737080	TGGA	T	G120737085A	ACADS	NM_000017.4(ACADS):c.307_309GAG[1]:p.Glu104del	coding	Pathogenic/Likely_pathogenic
12	120737094	CGT	TGC	C120737094T	ACADS	NM_000017.4(ACADS):c.319_321delinsTGC:p.Arg107Cys	coding	Pathogenic
12	120738335	AAG	A	G120738337A	ACADS	NM_000017.4(ACADS):c.682_683del:p.Glu228fs	coding	Pathogenic/Likely_pathogenic
12	120738874	CGC	TGT	C120738874T	ACADS	NM_000017.4(ACADS):c.988_990delinsTGT:p.Arg330Cys	coding	Pathogenic
12	120978770	TG	T	G120978772T	HNF1A	NM_000545.6(HNF1A):c.4del:p.Val2fs	coding	Pathogenic
12	120978893	GC	G	C120978898T	HNF1A	NM_000545.6(HNF1A):c.130del:p.Leu44fs	coding	Pathogenic
12	120978905	AG	A	G120978910A	HNF1A	NM_000545.6(HNF1A):c.142del:p.Glu48fs	coding	Pathogenic
12	120979099	G	GGAGCC	C120979105G	HNF1A	NM_000545.6(HNF1A):c.326+6_326+10dup	noncoding	Benign
12	120988829	CCAG	C	C120988830G	HNF1A	NM_000545.8(HNF1A):c.327-3_327-1del	noncoding	Pathogenic
12	120993686	G	GC	T120993688C	HNF1A	NM_000545.6(HNF1A):c.694dup:p.Leu232fs	coding	Pathogenic
12	120994169	A	AATGC	C120994176G	HNF1A	NM_000545.6(HNF1A):c.722_725dup:p.Ile242fs	coding	Pathogenic
12	120994237	CGT	C	G120994240C	HNF1A	NM_000545.6(HNF1A):c.788_789GT[1]:p.Val264fs	coding	Pathogenic
12	120994311	CG	C	G120994314C	HNF1A	NM_000545.6(HNF1A):c.864del:p.Pro291fs	coding	Pathogenic
12	120994312	GGGCCCCCCCCAGGGCCAGGCCCGGGACCTGCGCT	G	G120994314C	HNF1A	NM_000545.6(HNF1A):c.864_897del:p.Pro290fs	coding	Pathogenic
12	120994314	G	CC	G120994314C	HNF1A	NM_000545.8(HNF1A):c.864delinsCC:p.Gly292fs	coding	Pathogenic
12	120994314	GC	G	C120994322A	HNF1A	NM_000545.8(HNF1A):c.872del:p.Pro291fs	coding	Pathogenic
12	120994314	G	GC	A120994323C	HNF1A	NM_000545.6(HNF1A):c.872dup:p.Gly292fs	coding	Pathogenic
12	120996563	TC	T	C120996569T	HNF1A	NM_000545.8(HNF1A):c.1136del:p.Pro379fs	coding	Pathogenic
12	120996568	CCT	C	C120996569G	HNF1A	NM_000545.8(HNF1A):c.1136_1137del:p.Pro379fs	coding	Pathogenic
12	120996569	CT	C	T120996570G	HNF1A	NM_000545.6(HNF1A):c.1137del:p.Val380fs	coding	Pathogenic
12	120996571	GT	G	T120996572C	HNF1A	NM_000545.8(HNF1A):c.1139del:p.Val380fs	coding	Pathogenic
12	120996572	T	TC	A120996574C	HNF1A	NM_000545.8(HNF1A):c.1140dup:p.Ser381fs	coding	Pathogenic
12	120996827	C	CTCATTCAT	A120996844T	HNF1A	NM_000545.6(HNF1A):c.1309+86TCAT[6]	noncoding	Benign
12	120997491	GCA	G	C120997494G	HNF1A	NM_000545.8(HNF1A):c.1330_1331del:p.Gln444fs	coding	Pathogenic
12	120997522	GC	G	C120997523A	HNF1A	NM_000545.6(HNF1A):c.1359del:p.Ser454fs	coding	Pathogenic
12	120999280	ACAAGCCCGAGGTGGCCCAGTACACCCACACGGGCCTGCTCCCGCAGACTATGCTCATCACCGACACCACCAACCTGAGCGCCCTGGCCAGCCTCACGCCCACCAAGCAGGTAAGGTCCAGGCCTGCTGGCCCTCCCTTGGCCTGTGACAGAGCCCCTCACCCCCACATCCCC	A	A120999282G	HNF1A	NM_000545.8(HNF1A):c.1516_1624-30del	coding	Pathogenic
12	120999306	C	CA	C120999308A	HNF1A	NM_000545.8(HNF1A):c.1541dup:p.His514fs	coding	Pathogenic
12	120999600	GCCCACCGGCTCAGCGCCAGC	G	C120999606A	HNF1A	NM_000545.8(HNF1A):c.1747_1766del:p.Arg583fs	coding	Pathogenic
12	121001113	G	GC	A121001116C	HNF1A	NM_022895.3(C12orf43):c.*3039dup	coding	Pathogenic
12	121626888	G	GCCGCCGCCGCAGCGGGGACGGGGAGCCCCCGGGGGCC	T121626889C	ORAI1	NM_032790.3(ORAI1):c.141_142insCCGCCGCCGCAGCGGGGACGGGGAGCCCCCGGGGGCC:p.Ser48fs	coding	Pathogenic
12	121627005	T	TA	G121627009A	ORAI1	NM_032790.3(ORAI1):c.261dup:p.Ala88fs	coding	Pathogenic
12	121814467	GCCTGTTC	G	T121814473G	SETD1B	NM_001353345.2(SETD1B):c.2258_2264del:p.Leu752_Phe753insTer	coding	Pathogenic
12	121823095	G	GC	T121823102C	SETD1B	NM_001353345.1(SETD1B):c.4522dup:p.Leu1508fs	coding	Pathogenic
12	121830108	AAGAT	A	A121830111T	SETD1B	NM_001353345.2(SETD1B):c.5773_5776del:p.Ile1925fs	coding	Pathogenic
12	121843810	CCT	C	T121843820A	HPD	NM_002150.3(HPD):c.852_853del:p.Gly285fs	coding	Pathogenic
12	121857367	A	AC	G121857370C	HPD	NM_002150.3(HPD):c.158dup:p.Ser54fs	coding	Pathogenic
12	121921424	CA	C	A121921428G	CFAP251	NM_144668.6(CFAP251):c.123del:p.Asp42fs	coding	Pathogenic
12	121957125	CCT	C	C121957126G	CFAP251	NM_144668.6(CFAP251):c.1588_1589del:p.Leu530fs	coding	Pathogenic
12	123253706	C	CA	C123253708A	C12orf65	NM_152269.5(C12orf65):c.33dup:p.Pro12fs	coding	Pathogenic
12	123253769	T	TATCC	C123253774A	C12orf65	NM_152269.5(C12orf65):c.96_99dup:p.Pro34fs	coding	Pathogenic
12	123253800	GATGGCAGGCAAGAAGGACTA	G	A123253801C	C12orf65	NM_152269.5(C12orf65):c.127_146del:p.Met43fs	coding	Pathogenic
12	123253883	CA	C	A123253884G	C12orf65	NM_152269.5(C12orf65):c.210del:p.Gly72fs	coding	Pathogenic/Likely_pathogenic
12	123253921	GT	G	T123253922G	C12orf65	NM_152269.5(C12orf65):c.248del:p.Val83fs	coding	Pathogenic/Likely_pathogenic
12	123256836	TC	T	C123256837A	C12orf65	NM_152269.5(C12orf65):c.307del:p.Gln103fs	coding	Pathogenic
12	123256875	AG	A	G123256876T	C12orf65	NM_152269.5(C12orf65):c.346del:p.Lys115_Val116insTer	coding	Pathogenic
12	123256940	AAAAAC	A	A123256943G	C12orf65	NM_152269.5(C12orf65):c.413_417del:p.Lys138fs	coding	Pathogenic
12	123624798	TTCC	T	T123624802G	EIF2B1	NM_001414.4(EIF2B1):c.610_612GGA[1]:p.Gly205del	coding	Pathogenic
12	123671310	TG	T	G123671316A	TCTN2	NM_024809.5(TCTN2):c.76del:p.Asp26fs	coding	Pathogenic
12	123671310	T	TG	A123671317G	TCTN2	NM_024809.5(TCTN2):c.76dup:p.Asp26fs	coding	Pathogenic
12	123671557	C	CT	G123671559T	TCTN2	NM_024809.5(TCTN2):c.134dup:p.Val46fs	coding	Pathogenic
12	123673711	A	AC	T123673715C	TCTN2	NM_024809.5(TCTN2):c.367dup:p.Leu123fs	coding	Pathogenic
12	123679246	A	AT	A123679250T	TCTN2	NM_024809.5(TCTN2):c.524dup:p.Leu175fs	coding	Pathogenic
12	123686922	G	GCTCTGCTC	T123686931C	TCTN2	NM_024809.5(TCTN2):c.652_659dup:p.Ala221fs	coding	Pathogenic
12	123686973	TC	T	C123686974T	TCTN2	NM_024809.5(TCTN2):c.703del:p.Leu235fs	coding	Pathogenic
12	123704544	CT	C	T123704545G	TCTN2	NM_024809.5(TCTN2):c.1626del:p.Asp543fs	coding	Pathogenic
12	123712642	T	TC	A123712644C	ATP6V0A2	NM_012463.4(ATP6V0A2):c.78dup:p.Ser27fs	coding	Pathogenic
12	123724711	CTG	C	T123724712A	ATP6V0A2	NM_012463.4(ATP6V0A2):c.353_354del:p.Leu118fs	coding	Pathogenic
12	123737071	AC	A	C123737073G	ATP6V0A2	NM_012463.4(ATP6V0A2):c.840del:p.Glu281fs	coding	Pathogenic
12	123743804	T	TC	T123743809C	ATP6V0A2	NM_012463.4(ATP6V0A2):c.1062dup:p.Ser355fs	coding	Pathogenic
12	123748681	GT	A	G123748681A	ATP6V0A2	NM_012463.4(ATP6V0A2):c.1831_1832delinsA:p.Val611fs	coding	Pathogenic
12	123748778	CA	C	A123748779G	ATP6V0A2	NM_012463.4(ATP6V0A2):c.1929del:p.Gln645fs	coding	Pathogenic/Likely_pathogenic
12	123754416	TCA	T	C123754417G	ATP6V0A2	NM_012463.4(ATP6V0A2):c.2176-3_2176-2del	noncoding	Pathogenic
12	123756875	ATGGCGTC	A	G123756877T	ATP6V0A2	NM_012463.4(ATP6V0A2):c.2356_2362del:p.Gly786fs	coding	Pathogenic
12	123757911	CTT	C	T123757923A	ATP6V0A2	NM_012463.4(ATP6V0A2):c.2466-4_2466-3del	noncoding	Benign
12	124980728	TC	GA	T124980728G	DHX37	NM_032656.4(DHX37):c.499_500inv:p.Glu167Ser	coding	Pathogenic/Likely_pathogenic
12	131930057	GG	TT	G131930057T	PUS1	NM_025215.6(PUS1):c.225_226delinsTT:p.Glu75_Glu76delinsAspTer	coding	Pathogenic
12	131939259	TCA	T	C131939262T	PUS1	NM_025215.6(PUS1):c.531_532del:p.Ile178fs	coding	Pathogenic
12	131941466	AG	A	G131941469C	PUS1	NM_025215.6(PUS1):c.722del:p.Gly241fs	coding	Pathogenic
12	131941583	TTG	T	T131941584C	PUS1	NM_025215.6(PUS1):c.837_838del:p.Ala280fs	coding	Pathogenic
12	131941706	CAG	C	G131941710A	PUS1	NM_025215.6(PUS1):c.961_962GA[1]:p.Lys322fs	coding	Pathogenic
12	132062523	G	GGCA	A132062545G	EP400	NM_015409.5(EP400):c.8157_8159GCA[8]:p.Gln2748dup	coding	Benign
12	132618993	CGCGGGGCGCGGGGT	C	G132619017A	P2RX2	NM_170682.4(P2RX2):c.173+28_173+41del	noncoding	Benign
12	132620989	CCTT	C	C132620993G	P2RX2	NM_170682.4(P2RX2):c.775-8_775-6del	noncoding	Benign
12	132621877	ATCTCTGCCCCT	A	C132621881G	P2RX2	NM_170682.4(P2RX2):c.1325_1335del:p.Ile441_Ser442insTer	coding	Benign
12	132642486	A	AACG	A132642492G	POLE	NM_006231.3(POLE):c.4952+17_4952+19dupCGT	noncoding	Benign/Likely_benign
12	132642487	A	AACG	C132642488A	POLE	NM_006231.4(POLE):c.4952+18_4952+19insCGT	noncoding	Benign
12	132644066	A	AG	A132644068G	POLE	NM_006231.3(POLE):c.4150-90dup	noncoding	Benign
12	132659257	AGGAGCCCTCACCTCTCCGTGATGGGG	A	T132659279C	POLE	NM_006231.3(POLE):c.3275+12_3275+37del	noncoding	Benign/Likely_benign
12	132659279	T	TGGGGGGAGCCCTCACCTCTCCGTGAC	A132659306G	POLE	NM_006231.3(POLE):c.3265_3275+15dup	noncoding	Benign/Likely_benign
12	132661167	GAAA	G	A132661179G	POLE	NM_006231.3(POLE):c.2865-6_2865-4del	noncoding	Benign
12	132661167	GAA	G	A132661180G	POLE	NM_006231.4(POLE):c.2865-5_2865-4del	noncoding	Benign
12	132661167	GA	G	A132661181G	POLE	NM_006231.4(POLE):c.2865-4del	noncoding	Benign
12	132661167	G	GAA	G132661182A	POLE	NM_006231.4(POLE):c.2865-17_2865-16dup	noncoding	Benign
12	132661167	G	GA	G132661182A	POLE	NM_006231.3(POLE):c.2865-17dup	noncoding	Benign/Likely_benign
12	132681413	GGCTCA	G	G132681414C	POLE	NM_006231.3(POLE):c.63-139_63-135del	noncoding	Benign
12	132701283	A	AG	C132701291G	PXMP2	NM_018663.3(PXMP2):c.440dup:p.Phe148fs	coding	Benign
13	20138607	CA	C	A20138609T	GJA3	NM_021954.4(GJA3):c.*3373del	noncoding	Benign
13	20141791	TCA	T	C20141794G	GJA3	NM_021954.4(GJA3):c.*186_*187TG[1]	noncoding	Benign
13	20142151	T	TG	C20142153G	GJA3	NM_021954.4(GJA3):c.1137dup:p.Ser380fs	coding	Pathogenic
13	20188931	ATATC	A	T20188934A	GJB2	NM_004004.6(GJB2):c.647_650del:p.Arg216fs	coding	Pathogenic/Likely_pathogenic
13	20188948	AAC	A	C20188952A	GJB2	NM_004004.6(GJB2):c.630_631GT[1]:p.Cys211fs	coding	Pathogenic/Likely_pathogenic
13	20188976	G	GCAAATTCCAGACACTGCAATCATGAACACTGTGAAGACAGTCTTCT	C20189024A	GJB2	NM_004004.6(GJB2):c.560_605dup:p.Cys202Ter	coding	Pathogenic
13	20188982	TCCAGACAC	GAATGTCATGAACACTG	T20188982G	GJB2	NM_004004.5(GJB2):c.592_600delGTGTCTGGAinsCAGTGTTCATGACATTC:p.Val198Glnfs	coding	Pathogenic/Likely_pathogenic
13	20189005	CT	C	T20189006G	GJB2	NM_004004.6(GJB2):c.576del:p.Val193fs	coding	Pathogenic
13	20189016	GTC	G	C20189018T	GJB2	NM_004004.6(GJB2):c.564_565del:p.Lys188fs	coding	Pathogenic/Likely_pathogenic
13	20189048	CACAGTGTTGGG	C	G20189052A	GJB2	NM_004004.6(GJB2):c.523_533del:p.Pro175fs	coding	Pathogenic
13	20189070	G	GCGTT	G20189075C	GJB2	NM_004004.6(GJB2):c.508_511dup:p.Ala171fs	coding	Pathogenic/Likely_pathogenic
13	20189221	TCTC	T	C20189225G	GJB2	NM_004004.6(GJB2):c.355_357GAG[1]:p.Glu120del	coding	Pathogenic
13	20189246	CTT	C	T20189248A	GJB2	NM_004004.6(GJB2):c.334_335del:p.Lys112fs	coding	Pathogenic/Likely_pathogenic
13	20189252	CTCCCCCTTGATGAACT	C	C20189256T	GJB2	NM_004004.6(GJB2):c.314_329del:p.Lys105fs	coding	Pathogenic
13	20189254	CC	T	C20189254T	GJB2	NM_004004.6(GJB2):c.327_328delinsA:p.Glu110fs	coding	Pathogenic
13	20189255	CCCCTTGATGAACTT	C	C20189258T	GJB2	NM_004004.6(GJB2):c.313_326del:p.Lys105fs	coding	Pathogenic
13	20189281	CAT	C	A20189282G	GJB2	NM_004004.6(GJB2):c.299_300del:p.His100fs	coding	Pathogenic
13	20189291	G	GT	A20189293T	GJB2	NM_004004.6(GJB2):c.290dup:p.Tyr97Ter	coding	Pathogenic
13	20189297	C	CACGTG	C20189303A	GJB2	NM_004004.6(GJB2):c.280_284dup:p.Ala96fs	coding	Pathogenic
13	20189312	T	TA	G20189314A	GJB2	NM_004004.6(GJB2):c.269dup:p.Val91fs	coding	Pathogenic
13	20189342	C	CT	G20189344T	GJB2	NM_004004.6(GJB2):c.239dup:p.Leu81fs	coding	Pathogenic/Likely_pathogenic
13	20189346	AG	A	G20189349C	GJB2	NM_004004.6(GJB2):c.235del:p.Leu79fs	coding	Pathogenic
13	20189349	G	GC	A20189353C	GJB2	NM_004004.6(GJB2):c.232dup:p.Ala78fs	coding	Pathogenic/Likely_pathogenic
13	20189390	GCACACGTTCTTGCAGC	G	A20189392T	GJB2	NM_004004.6(GJB2):c.176_191del:p.Gly59fs	coding	Pathogenic
13	20189414	CA	C	A20189415G	GJB2	NM_004004.6(GJB2):c.167del:p.Leu56fs	coding	Pathogenic
13	20189440	GCTCAT	G	A20189444C	GJB2	NM_004004.6(GJB2):c.137_141del:p.Asp46fs	coding	Pathogenic
13	20189454	ACCT	A	C20189458T	GJB2	NM_004004.6(GJB2):c.122_124AGG[1]:p.Glu42del	coding	Pathogenic
13	20189513	GATCTTTCCAATGCTGGTGGAGTGTTTGTTCACACCCCC	G	A20189514C	GJB2	NM_004004.6(GJB2):c.31_68del:p.Gly11fs	coding	Pathogenic/Likely_pathogenic
13	20189520	CCAATGCTGGTG	T	C20189520T	GJB2	NM_004004.6(GJB2):c.51_62delinsA:p.Thr18fs	coding	Pathogenic
13	20189546	AC	A	C20189552A	GJB2	NM_004004.6(GJB2):c.35del:p.Gly12fs	coding	Pathogenic
13	20189570	GC	G	C20189574A	GJB2	NM_004004.6(GJB2):c.11del:p.Gly4fs	coding	Pathogenic/Likely_pathogenic
13	20223219	C	CT	G20223221T	GJB6	NM_001110219.3(GJB6):c.261dup:p.Ala88fs	coding	Pathogenic
13	20988343	C	CGGGGCG	C20988367G	LATS2	NM_014572.3(LATS2):c.1419_1424CGCCCC[4]:p.467_468PA[8]	coding	Benign
13	21671788	C	CT	C21671797T	FGF9	NM_002010.3(FGF9):c.-117dup	noncoding	Benign
13	21671788	C	CTT	C21671797T	FGF9	NM_002010.3(FGF9):c.-118_-117dup	noncoding	Benign
13	23203780	A	AT	G23203782T	SGCG	NM_000231.2(SGCG):c.87dup:p.Gly30fs	coding	Pathogenic
13	23203888	CAGTA	C	A23203893T	SGCG	NM_000231.2(SGCG):c.195+4_195+7del	coding	Pathogenic
13	23234484	C	CTATT	G23234487T	SGCG	NM_000231.2(SGCG):c.196-127_196-126insTATT	noncoding	Benign
13	23234593	C	CT	A23234606T	SGCG	NM_000231.3(SGCG):c.196-6dup	noncoding	Benign
13	23234593	CT	C	T23234605A	SGCG	NM_000231.3(SGCG):c.196-6del	noncoding	Benign
13	23234643	T	TG	A23234646G	SGCG	NM_000231.2(SGCG):c.230dup:p.Leu78fs	coding	Pathogenic
13	23234651	GCTTGGAAGGGGAATCAGAATTTTTATTCCCATTGTATGCCAAAGAAATACACTCCAGAGTGGTAAGAAAATGTTAAGACAAATAATTTGTGCTTTATGAAAAATAAATCATGTTTAAGCACAAAAATTCAGTACAGTTTAGAGAAGATTTTTAAAGCGCATACATGTGCACATATTCATGATATGCTCTTTATAAAAAGCTTGACTATTGCAGAATTTATCTCTGATATTACCTTCTAAAAATATTTCAATTTAATATGCTTCAGATCTGAATTTGGTGGCCTCAGTAGTTTAGACCATAATAAACTAAAGGTTTTAGAAATGAAAATTTTTACCAAGAACAATTTAAACTTCTTTATGTTAGATCAACTAACTTAAATATATTTATTTTAGGGTATTCAAAATTATCTAAGAAGCTTAGAAAGAAATTCGTTTCAGCTGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGTGGGCGGATCACCTGAGGTGGGGCCAGCTTGGCCAACATGGATAAACCCCGTCTCTACTAAAAATACAAAATTAGCCAGGCATGGTGGCGTATGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGTAGGAGAATCGCTTGAACCCAGGAAGCAGAGGTTGTGGTGAGCCCAGATAGCGCCACTGCATTCCAGCCTGGGCAACAAGAGCAAAACTCCATCTCAAAAAAAGAAGAAAAAACAAAAAAAAAAAAGAAAGAAATTTGTTTCATTGTATTATGTTCTGCACTTATTATACTAATTACAGATTATGATCCTGTAAGATTCTGAACAAGTAGATTCAGCATTGTTATTAAATACTTATGTGACTTTAAAAGTAAATCAAGGTTTTCTTCATTTACCTCCATGGAGCTTATAAGAAGGACAGCCAAGAATAAAGTGCAAATACGTTCAAACAATGTTGGCAATATGTTCTATTTTTACTTAAGTGATGCTATGAGCATTATAGTAGGCACGAACATTTTGCTAGATTATTGATAAATGGCATTACCTCCCTGACGCACAAAAAGTTAAAACTTCACCCAGCTATAACTTTCTAGTTATGTGAAGAGCAGAGTCTTCATTTTCCTTTCATATTTCTGAATATGAAAGGGTATTTCAGTATCTCCTAACTGCAGAGGCTGTACCAGCCACTATAGGAGAATTAGAAAAGAAACAAAAGACTTACTAAGAAACATGAGGT	G	G23234656T	SGCG	NM_000231.2(SGCG):c.241_297+1169del	coding	Pathogenic
13	23250664	TG	T	G23250665A	SGCG	NM_000231.2(SGCG):c.333del:p.Thr112fs	coding	Pathogenic
13	23250673	A	AT	G23250675T	SGCG	NM_000231.2(SGCG):c.342dup:p.Ala115fs	coding	Pathogenic
13	23250689	AG	A	G23250693A	SGCG	NM_000231.3(SGCG):c.361del:p.Glu121fs	coding	Pathogenic
13	23279423	ATTTACTG	A	T23279425A	SGCG	NM_000231.2(SGCG):c.452_458del:p.Leu150_Phe151insTer	coding	Pathogenic
13	23295429	CT	C	T23295434G	SGCG	NM_000231.2(SGCG):c.525del:p.Phe175fs	coding	Pathogenic
13	23320614	TG	T	G23320615T	SGCG	NM_000231.2(SGCG):c.579-22del	noncoding	Benign
13	23320656	AG	A	G23320657T	SGCG	NM_000231.2(SGCG):c.599del:p.Ser200fs	coding	Pathogenic
13	23324395	TTA	AGCAT	T23324395A	SGCG	NM_000231.3(SGCG):c.730_732delinsAGCAT:p.Leu244fs	coding	Pathogenic
13	23324397	A	AC	A23324401C	SGCG	NM_000231.2(SGCG):c.735dup:p.Lys246fs	coding	Pathogenic
13	23324416	AC	A	C23324417G	SGCG	NM_000231.2(SGCG):c.752del:p.Thr251fs	coding	Pathogenic
13	23324457	CTG	C	G23324465C	SGCG	NM_000231.2(SGCG):c.794_795GT[3]:p.Cys267fs	coding	Pathogenic/Likely_pathogenic
13	23330348	C	CT	A23330350T	SACS	NM_014363.6(SACS):c.13527dup:p.Glu4510fs	coding	Pathogenic
13	23330622	TTC	T	C23330624T	SACS	NM_014363.6(SACS):c.13252_13253del:p.Glu4418fs	coding	Pathogenic
13	23330891	TAATC	T	A23330892T	SACS	NM_014363.6(SACS):c.12981_12984del:p.Ile4328fs	coding	Pathogenic
13	23332237	ACT	A	C23332242T	SACS	NM_014363.6(SACS):c.11633_11634AG[2]:p.Arg3879fs	coding	Pathogenic
13	23332609	CAT	C	A23332612G	SACS	NM_014363.6(SACS):c.11263_11264AT[1]:p.Ile3755fs	coding	Pathogenic
13	23332942	AG	A	G23332943A	SACS	NM_014363.6(SACS):c.10933del:p.Phe3644_Leu3645insTer	coding	Pathogenic
13	23333052	ACT	A	C23333053G	SACS	NM_014363.6(SACS):c.10822_10823del:p.Ser3608fs	coding	Pathogenic/Likely_pathogenic
13	23333231	CA	C	A23333236C	SACS	NM_014363.6(SACS):c.10644del:p.Phe3548fs	coding	Pathogenic
13	23333918	C	CTT	A23333922T	SACS	NM_014363.6(SACS):c.9956_9957dup:p.Val3320fs	coding	Pathogenic
13	23334295	AAATAT	A	A23334299G	SACS	NM_014363.6(SACS):c.9576_9580del:p.Leu3192fs	coding	Pathogenic
13	23334311	TAAAC	T	A23334314G	SACS	NM_014363.6(SACS):c.9561_9564del:p.Leu3187_Phe3188insTer	coding	Pathogenic
13	23334626	TA	T	A23334628G	SACS	NM_014363.6(SACS):c.9249del:p.Leu3083_Ile3084insTer	coding	Pathogenic
13	23334642	AT	A	T23334644A	SACS	NM_014363.6(SACS):c.9233del:p.Asn3078fs	coding	Pathogenic
13	23335031	TA	T	A23335032G	SACS	NM_014363.6(SACS):c.8844del:p.Ile2949fs	coding	Pathogenic
13	23335082	G	GT	A23335090T	SACS	NM_014363.6(SACS):c.8793dup:p.Arg2932fs	coding	Pathogenic
13	23335082	GT	G	T23335089A	SACS	NM_014363.6(SACS):c.8793del:p.Lys2931fs	coding	Pathogenic/Likely_pathogenic
13	23335332	GAA	G	A23335335G	SACS	NM_014363.6(SACS):c.8542_8543del:p.Phe2848fs	coding	Pathogenic/Likely_pathogenic
13	23335531	GC	AT	G23335531A	SACS	NM_014363.6(SACS):c.8344_8345delinsAT:p.Ala2782Ile	coding	Benign
13	23335535	GA	G	A23335538T	SACS	NM_014363.6(SACS):c.8340del:p.His2781fs	coding	Pathogenic
13	23336031	AT	A	T23336034C	SACS	NM_014363.6(SACS):c.7844del:p.Asn2615fs	coding	Pathogenic/Likely_pathogenic
13	23336108	C	CACAA	G23336114C	SACS	NM_014363.6(SACS):c.7764_7767dup:p.Val2590fs	coding	Pathogenic
13	23336220	A	AT	G23336225T	SACS	NM_014363.6(SACS):c.7655dup:p.Asn2552fs	coding	Pathogenic
13	23336234	C	CT	C23336238T	SACS	NM_014363.6(SACS):c.7641dup:p.Glu2548fs	coding	Pathogenic
13	23336621	CTTCTG	C	C23336624A	SACS	NM_014363.6(SACS):c.7250_7254del:p.Thr2417fs	coding	Pathogenic
13	23336669	CAA	C	A23336670G	SACS	NM_014363.6(SACS):c.7205_7206del:p.Leu2402fs	coding	Pathogenic
13	23336712	GGT	G	G23336713T	SACS	NM_014363.6(SACS):c.7162_7163del:p.Thr2388fs	coding	Pathogenic/Likely_pathogenic
13	23336728	CG	C	G23336730A	SACS	NM_014363.6(SACS):c.7147del:p.Arg2383fs	coding	Pathogenic
13	23336736	AT	A	T23336741A	SACS	NM_014363.6(SACS):c.7139del:p.Asn2380fs	coding	Pathogenic/Likely_pathogenic
13	23337252	TG	T	G23337253C	SACS	NM_014363.6(SACS):c.6623del:p.Ala2208fs	coding	Pathogenic
13	23337423	TAACTG	T	G23337428A	SACS	NM_014363.6(SACS):c.6448_6452del:p.Gln2150fs	coding	Pathogenic/Likely_pathogenic
13	23337534	GATCA	G	A23337538T	SACS	NM_014363.6(SACS):c.6338_6341del:p.Leu2113fs	coding	Pathogenic
13	23337585	AC	A	C23337586A	SACS	NM_014363.6(SACS):c.6290del:p.Cys2097fs	coding	Pathogenic
13	23337703	GA	G	A23337710C	SACS	NM_014363.6(SACS):c.6172del:p.Ser2058fs	coding	Pathogenic
13	23337871	CTTCTT	C	C23337874A	SACS	NM_014363.6(SACS):c.6000_6004del:p.Arg2002fs	coding	Pathogenic
13	23338167	ATC	A	C23338169G	SACS	NM_014363.6(SACS):c.5707_5708del:p.Asp1903fs	coding	Pathogenic
13	23338276	ATG	A	T23338281G	SACS	NM_014363.6(SACS):c.5594_5595CA[2]:p.Ile1867fs	coding	Pathogenic/Likely_pathogenic
13	23338703	TC	CTTTGTGTTCCA	T23338703C	SACS	NM_014363.6(SACS):c.5172_5173delinsTGGAACACAAAG:p.Leu1724fs	coding	Pathogenic
13	23338724	A	AT	A23338734T	SACS	NM_014363.6(SACS):c.5151dup:p.Ser1718fs	coding	Pathogenic
13	23338724	AT	A	T23338733A	SACS	NM_014363.6(SACS):c.5151del:p.Lys1717fs	coding	Pathogenic
13	23338809	ACT	A	C23338812G	SACS	NM_014363.6(SACS):c.5063_5064AG[1]:p.Ser1689fs	coding	Pathogenic/Likely_pathogenic
13	23338995	ACAGC	A	G23338998A	SACS	NM_014363.6(SACS):c.4877_4880del:p.Gly1626fs	coding	Pathogenic
13	23339601	G	GTCCTCATGCA	C23339612T	SACS	NM_014363.6(SACS):c.4265_4274dup:p.Ile1426_Pro1427insAlaTer	coding	Pathogenic
13	23339612	CCAAAA	C	C23339613T	SACS	NM_014363.6(SACS):c.4259_4263del:p.Ile1420fs	coding	Pathogenic
13	23339758	GC	AG	G23339758A	SACS	NM_014363.6(SACS):c.4117_4118delinsCT:p.Ala1373Leu	coding	Benign/Likely_benign
13	23339842	T	TG	T23339845G	SACS	NM_014363.6(SACS):c.4033dup:p.Gln1345fs	coding	Pathogenic
13	23340574	TTTTC	T	C23340578G	SACS	NM_014363.6(SACS):c.3298_3301del:p.Glu1100fs	coding	Pathogenic
13	23340816	T	TA	G23340818A	SACS	NM_014363.6(SACS):c.3059dup:p.Ser1021fs	coding	Pathogenic
13	23340936	CAT	C	A23340937G	SACS	NM_014363.6(SACS):c.2938_2939del:p.Met980fs	coding	Pathogenic
13	23340969	ACTGT	A	G23340972A	SACS	NM_014363.6(SACS):c.2903_2906del:p.Asp968fs	coding	Pathogenic
13	23341099	ATT	A	T23341100G	SACS	NM_014363.6(SACS):c.2775_2776del:p.Phe927fs	coding	Pathogenic
13	23341435	CAT	C	A23341436G	SACS	NM_014363.6(SACS):c.2439_2440del:p.Val815fs	coding	Pathogenic/Likely_pathogenic
13	23354671	CT	C	T23354675C	SACS	NM_014363.6(SACS):c.1940del:p.Lys647fs	coding	Pathogenic
13	23354691	GGT	G	T23354695C	SACS	NM_014363.6(SACS):c.1917_1918AC[1]:p.His640fs	coding	Pathogenic
13	23354742	TC	T	C23354743A	SACS	NM_014363.6(SACS):c.1869del:p.Arg624fs	coding	Pathogenic
13	23355421	ACT	A	C23355422G	SACS	NM_014363.6(SACS):c.1189_1190del:p.Ser397fs	coding	Pathogenic/Likely_pathogenic
13	23365239	TTC	T	C23365241G	SACS	NM_014363.6(SACS):c.382_383del:p.Glu128fs	coding	Pathogenic
13	24447006	GTCT	G	C24447011A	PARP4	NM_006437.4(PARP4):c.3285+7_3285+9del	noncoding	Benign
13	24882493	G	GT	A24882495T	CENPJ	NM_018451.5(CENPJ):c.*683dup	noncoding	Benign
13	24882866	ACTT	A	C24882870G	CENPJ	NM_018451.5(CENPJ):c.*305_*307AAG[1]	noncoding	Benign
13	24882874	GT	G	T24882883A	CENPJ	NM_018451.5(CENPJ):c.*302del	noncoding	Benign
13	24883254	GATGA	G	A24883255C	CENPJ	NM_018451.5(CENPJ):c.3936_3939del:p.His1313fs	coding	Pathogenic
13	24883502	A	ATT	G24883505T	CENPJ	NM_018451.5(CENPJ):c.3825-135_3825-134dup	noncoding	Benign
13	24884094	AGTT	A	G24884098A	CENPJ	NM_018451.5(CENPJ):c.3704-14_3704-12del	noncoding	Benign
13	24885662	G	GT	G24885664T	CENPJ	NM_018451.5(CENPJ):c.3309dup:p.Pro1104fs	coding	Pathogenic
13	24889370	TCTGA	T	A24889374T	CENPJ	NM_018451.5(CENPJ):c.3243_3246del:p.Ser1081fs	coding	Pathogenic
13	24892851	A	AT	G24892855T	CENPJ	NM_018451.5(CENPJ):c.3007dup:p.Ile1003fs	coding	Pathogenic
13	24892882	AAAC	A	C24892885A	CENPJ	NM_018451.5(CENPJ):c.2992-18_2992-16del	noncoding	Benign
13	24905347	AG	A	G24905349T	CENPJ	NM_018451.5(CENPJ):c.2690del:p.Pro897fs	coding	Pathogenic
13	24906155	GC	G	C24906157G	CENPJ	NM_018451.5(CENPJ):c.1882del:p.Ala628fs	coding	Pathogenic
13	24906186	CAG	C	A24906187G	CENPJ	NM_018451.5(CENPJ):c.1850_1851del:p.Pro617fs	coding	Pathogenic
13	24906353	TCTAA	T	A24906356T	CENPJ	NM_018451.5(CENPJ):c.1681_1684del:p.Leu561fs	coding	Pathogenic
13	24906630	GAGAA	G	A24906634C	CENPJ	NM_018451.5(CENPJ):c.1404_1407del:p.Ser469fs	coding	Pathogenic
13	24907138	CT	C	T24907140C	CENPJ	NM_018451.5(CENPJ):c.1029del:p.Glu344fs	coding	Pathogenic
13	24908092	TTC	T	C24908094G	CENPJ	NM_018451.5(CENPJ):c.898_899del:p.Glu300fs	coding	Pathogenic/Likely_pathogenic
13	24912736	G	GT	A24912738T	CENPJ	NM_018451.5(CENPJ):c.289dup:p.Thr97fs	coding	Pathogenic
13	24912895	TTC	T	C24912899T	CENPJ	NM_018451.5(CENPJ):c.127_128GA[1]:p.Lys44fs	coding	Pathogenic
13	24913007	AG	A	G24913009T	CENPJ	NM_018451.5(CENPJ):c.18del:p.Ser7fs	coding	Pathogenic
13	25541950	GTGAAGTTCTGA	G	C25541958A	ATP8A2	NM_016529.6(ATP8A2):c.691_701del:p.Leu231fs	coding	Pathogenic
13	25577115	C	CT	C25577118T	ATP8A2	NM_016529.6(ATP8A2):c.1761dup:p.Arg588fs	coding	Pathogenic/Likely_pathogenic
13	25578817	TA	T	A25578819T	ATP8A2	NM_016529.6(ATP8A2):c.1787del:p.Asn596fs	coding	Pathogenic
13	25774934	AG	A	G25774935A	ATP8A2	NM_016529.6(ATP8A2):c.2655del:p.Asn886fs	coding	Pathogenic
13	27622935	G	GGT	C27622938G	POLR1D	NM_015972.4(POLR1D):c.88_89dup:p.Gln31fs	coding	Pathogenic
13	27623017	T	TA	C27623019A	POLR1D	NM_015972.4(POLR1D):c.170dup:p.Tyr57Ter	coding	Pathogenic
13	27623109	A	AGG	T27623112G	POLR1D	NM_015972.4(POLR1D):c.262_263dup:p.Thr89fs	coding	Pathogenic
13	27920320	GC	G	C27920326G	PDX1	NM_000209.4(PDX1):c.188del:p.Pro63fs	coding	Pathogenic
13	27920348	G	GC	T27920356C	PDX1	NM_000209.4(PDX1):c.217dup:p.Leu73fs	coding	Pathogenic
13	28018487	T	TGGATCC	A28018491T	FLT3	NM_004119.3(FLT3):c.2520_2521insGGATCC:p.Asn841_Tyr842insGlySer	coding	Pathogenic
13	28018502	TATC	T	A28018503T	FLT3	NM_004119.3(FLT3):c.2503_2505del:p.Asp835del	coding	Pathogenic/Likely_pathogenic
13	28034125	T	TTCATATTCTCTGAAATCAACG	A28034148C	FLT3	NM_004119.3(FLT3):c.1773_1793dup:p.Glu598_Tyr599insAspValAspPheArgGluTyr	coding	Pathogenic
13	28034139	AATC	A	T28034141A	FLT3	NM_004119.3(FLT3):c.1777_1779del:p.Asp593del	coding	Pathogenic
13	28659088	TC	T	C28659090G	POMP	NM_015932.5(POMP):c.-95del	noncoding	Pathogenic
13	28672406	CTA	C	A28672408T	POMP	NM_015932.6(POMP):c.334_335del:p.Ile112fs	coding	Pathogenic
13	28672411	G	GGATTT	G28672419T	POMP	NM_015932.6(POMP):c.340_344dup:p.Glu115fs	coding	Pathogenic
13	28672416	TGAGGAT	ACC	T28672416A	POMP	NM_015932.6(POMP):c.342_348delinsACC:p.Phe114fs	coding	Pathogenic
13	31148483	TA	T	A31148500T	HSPH1	NM_006644.4(HSPH1):c.1138-4del	noncoding	Benign
13	31229168	A	AT	G31229178T	B3GLCT	NM_194318.4(B3GLCT):c.161-8dup	noncoding	Benign
13	31229252	G	GT	A31229255T	B3GLCT	NM_194318.4(B3GLCT):c.230dup:p.Leu77fs	coding	Pathogenic
13	31317566	TATCTCCAGGCTCCAGC	T	T31317568C	B3GLCT	NM_194318.4(B3GLCT):c.1067_1082del:p.Ile356fs	coding	Pathogenic
13	32315355	ATGCCTGACAAGGAATTTCCTTTCGCCACACTGAGAAATACCCGCAGCGGCCCACCCAGGCCTGACTTCCGGGTGGTGCGTGTGCTGCGTGTCGCGTCACGGCGTCACGTGGCCAGCGCGGGCTTGTGGCGCGAGCTTCTGAAACTAGGCGGCAGAGGCGGAGCCGCTGTGGCACTGCTGCGCCTCTGCTGCGCCTCGGGTGTCTTTTGCGGCGGTGGGTCGCCGCCGGGAGAAGCGTGAGGGGACAGATTTGTGACCGGCGCGGTTTTTGTCAGCTTACTCCGGCCAAAAAAGAACTGCACCTCTGGAGCGGGTTAGTGGTGGTGGTAGTGGGTTGGGACGAGCGCGTCTTCCGCAGTCCCAGTCCAGCGTGGCGGGGGAGCGCCTCACGCCCCGGGTCGCTGCCGCGGCTTCTTGCCCTTTTGTCTCTGCCAACCCCCACCCATGCCTGAGAGAAAGGTCCTTGCCCGAAGGCAGATTTTCGCCAAGCAAATTCGAGCCCCGCCCCTTCCCTGGGTCTCCATTTCCCGCCTCCGGCCCGGCCTTTGGGCTCCGCCTTCAGCTCAAGACTTAACTTCCCTCCCAGCTGTCCCAGATGACGCCATCTGAAATTTCTTGGAAACACGATCACTTTAACGGAATATTGCTGTTTTGGGGAAGTGTTTTACAGCTGCTGGGCACGCTGTATTTGCCTTACTTAAGCCCCTGGTAATTGCTGTATTCCGAAGACATGCTGATGGGAATTACCAGGCGGCGTTGGTCTCTAACTGGAGCCCTCTGTCCCCACTAGCCACGCGTCACTGGTTAGCGTGATTGAAACTAAATCGTATGAAAATCCTCTTCTCTAGTCGCACTAGCCACGTTTCGAGTGCTTAATGTGGCTAGTGGCACCGGTTTGGACAGCACAGCTGTAAAATGTTCCCATCCTCACAGTAAGC	A	C32315358T	BRCA2;ZAR1L;LOC106721785	NC_000013.11:g.32315356_32316292del	noncoding	Pathogenic
13	32315645	AAAG	A	G32315648C	BRCA2	NM_000059.3(BRCA2):c.-59_-57del	noncoding	Benign
13	32316453	AGGTAAAAATGCCTATT	A	T32316456A	BRCA2	NM_000059.3(BRCA2):c.-5_11del:p.Met1fs	noncoding	Pathogenic
13	32316462	TG	T	G32316463C	BRCA2	NM_000059.3(BRCA2):c.3del:p.Met1fs	coding	Pathogenic
13	32316463	GC	G	C32316465T	BRCA2	NM_000059.3(BRCA2):c.5del:p.Pro2fs	coding	Pathogenic
13	32316466	T	TA	T32316468A	BRCA2	NM_000059.3(BRCA2):c.7dup:p.Ile3fs	coding	Pathogenic
13	32316473	TC	T	C32316475A	BRCA2	NM_000059.3(BRCA2):c.15del:p.Glu7fs	coding	Pathogenic
13	32316475	CAA	C	A32316477G	BRCA2	NM_000059.3(BRCA2):c.17_18del:p.Lys6fs	coding	Pathogenic
13	32316477	AAG	A	A32316482G	BRCA2	NM_000059.3(BRCA2):c.18_19AG[2]:p.Arg8fs	coding	Pathogenic
13	32316477	AAGAG	A	A32316480G	BRCA2	NM_000059.3(BRCA2):c.18_19AG[1]:p.Glu7fs	coding	Pathogenic
13	32316484	GC	G	C32316486A	BRCA2	NM_000059.4(BRCA2):c.26del:p.Pro9fs	coding	Pathogenic
13	32316490	A	AT	G32316497T	BRCA2	NM_000059.3(BRCA2):c.36dupT:p.Glu13Terfs	coding	Pathogenic
13	32316490	AT	A	T32316496G	BRCA2	NM_000059.3(BRCA2):c.36del:p.Phe12fs	coding	Pathogenic
13	32316492	TT	A	T32316492A	BRCA2	NM_000059.3(BRCA2):c.32_33delinsA:p.Phe11fs	coding	Pathogenic
13	32316492	TTTTTGAAA	T	G32316497T	BRCA2	NM_000059.3(BRCA2):c.37_44del:p.Phe12_Glu13insTer	coding	Pathogenic
13	32316497	G	GT	A32316498T	BRCA2	NM_000059.4(BRCA2):c.37_38insT:p.Glu13fs	coding	Pathogenic
13	32316507	A	AG	A32316509G	BRCA2	NM_000059.3(BRCA2):c.48dup:p.Thr17fs	coding	Pathogenic
13	32316508	GACACGCTGCA	G	C32316512A	BRCA2	NM_000059.3(BRCA2):c.52_61del:p.Arg18fs	coding	Pathogenic
13	32316508	GAC	ATCGATCGAT	G32316508A	BRCA2	NM_000059.3(BRCA2):c.48_50delinsATCGATCGAT:p.Thr17fs	coding	Pathogenic
13	32316508	GAC	G	A32316511G	BRCA2	NM_000059.3(BRCA2):c.49_50AC[1]:p.Arg18fs	coding	Pathogenic
13	32316510	C	CA	C32316512A	BRCA2	NM_000059.3(BRCA2):c.51dup:p.Arg18fs	coding	Pathogenic
13	32316518	A	AGCTTGCAGTGAGCCGAGATCGCGCC	A32316519G	BRCA2	NM_000059.4(BRCA2):c.58_59insGCTTGCAGTGAGCCGAGATCGCGCC:p.Asn20delinsSerLeuGlnTer	coding	Pathogenic
13	32316520	CA	C	A32316523G	BRCA2	NM_000059.3(BRCA2):c.63del:p.Ala22fs	coding	Pathogenic
13	32316526	AG	A	G32316528T	BRCA2	NM_000059.3(BRCA2):c.67+1del	coding	Pathogenic
13	32317314	CAAGT	C	A32317315G	BRCA2	NM_000059.3(BRCA2):c.67+788_67+791del	noncoding	Benign
13	32317677	GTCAGAAAAGTCTTTTAAGATTGGGTAGAAATGAGCCACTGGAAATTCTAATTTTCATTTGAAAGTTCACATTTTGTCATTGACAACAAACTGTTTTCCTTGCAGCAACAAGATCACTTCATTGATTTGTGAGAAAATGTCTACCAAATTATTTAAGTTGAAATAACTTTGTCAGCTGTTCTTTCAAGTAAAAATGACTTTTCATTGAAAAAATTGCTTGTTCAGATCACAGCTCAACATGAGTGCTTTTCTAGGCAGTATTGTACTTCAGTATGCAGAAGTGCTTTATGTATGCTTCCTATTTTGTCAGAGATTATTAAAAGAAGTGCTAAAGCATTGAGCTTCGAAATTAATTTTTACTGCTTCATTAGGACATTCTTACATTAAACTGGCATTATTATTACTATTATTTTTAACAAGGACACTCAGTGGTAAGGAATATAATGGCTACTAGTATTAGTTTGGTGCCACTGCCATAACTCATGCAAATGTGCCAGCAGTTTTACCCAGCATCATCTTTGCACTGTTGATACAAATGTCAACATCATGAAAAAGGGAAATGATTCCATAGCGTTATTATGAAAGTAGTTTTGAACTGTAATGGTAGAGGATGAATAGCTCACAATACAAATTTGTCATTTCCCTTTAAGAGAGAATTCCCATTTTATGTGAGAGTCCACATGTTCCTCATACCCATAGTTTGCCACATCTTGAGTACTCTTCAGAATTATTTGAATTTTTTGAATTTTATCTGTGGAATGTATTTTTTTTTTTTTCTTTTTTGAGACACAGTCTTGCTCTGTTGCCCAGGCTGGAATGCAGTGGCGTGATCTCGGCTCACTGCAACCACCGCCTCCTGGGTTCAAGTGATTCTCCTGTGGCAGCCTCCGGAGTAGCTGGGACTACAGGCGTGTGCCACCATGCTTGGCTAATTTTTTGTGTTTTTAGTAAAGATGGGGTTTCAACGTGTTAGCAAGGTTGGTCTCGATCTGACCTCGTGATCTGCTCGCCTCAGCCTCCCAAAGTGTTGGGATTACAGGCGTGAGCCCCCGCACCTGGCCGAATTTTATCGTGGAATGTATTCTTAATGTGAATAGTTTTTGATTCCGAACCATGAATAATAAGAAAATAAATAAAATTTAAATGAAAATAAAAGCTAATATATACAGCTTTTAATAATATAGTTAAATGCCATCTTGTAACTTTTGTGAACTCTTGTTACACCTTTCTATAGATTCGCAAGAGAATGGATTAATGATCTTGTTTAATTAATATGCCTTAACAAAAGTAATCCATAGTCAAGATCTTAAGCATTTTTTTCCTTATGATCTTTAACTGTTCTGGGTCACAAATTTGTCTGTCACTGGTTAAAACTAAGGTGGGATTTTTTTTTTAAATAGATTTAGGACCAATAAGTCTTAATTGGTTTGAAGAACTTTCTTCAGAAGCTCCACCCTATAATTCTGAACCTGCAGAAGAATCTGAACATAAAAACAACAATTACGAACCAAACCTATTTAAAACTCCACAAAGGAAACCATCTTATAATCAGCTGGCTTCAACTCCAATAATATTCAAAGAGCAAGGGCTGACTCTGCCGCTGTACCAATCTCCTGTAAAAGAATTAGATAAATTCAAATTAGACTTAGGTAAGTAATGCAATATGGTAGACTGGGGAGAACTACAAACTAGGAATTTAGGCAAACCTGTGTTAAAATCTTAGCTCATTCATTAATTGTGTCATGCTGGGCAAATCAGTCTCTCTGGCCTCTTTTTCCTCACTCGAAAAATGGAGACGATGAAAATAATGTCTCATAGGTTTGGATTAAATTAAATAATGTAGGTACTTAGTAAATGTTCTCTTTCATCCCTCCTTTGATAAATTTGCCAACTGAGATTTGCTGAATTACGTCTTTCTTATGCCAAAAAAACCTAGGACTTGTTTTGATGTTAATTAAACTAAACTATATTTCTGCAAGCTATCACAGAGGACAGAGATTATTTTACCGATATACTATAAGTATCATGATTTGGAAGGAGTTTCCCTGGCGTAGGTGCCGCATGTTTCTAAGCAATTATGTAATAAGATTATATATTCAGTCATTCAAATAATTATTACCTACTTGACATAAGTAATGAACTTTCCCTTTTCTTCAGAGTGTTAATCTCTAGTAAGGGGAATAAAGAGTACACAGATAAAGTATAGTGTAAGGTTGAATGTAGTATGTGCTAAGAGAAAAATATAAAAAAGTATAATGAGAGTTGAGAAGAAAGAGCAAATAGTATTGGGCAAAGTTAGGCAATTATTCCTTTGAGCTAAACCTTGAAGGATAGGTGAGAGATTAAGAAATTTGAAGATGTGGTAGAGTGATAATGTTCTAGGCAGAGGGAACAACATGAGGAAGAATATGTAGTGTGTTCAGGAAATAGCAAGTAATTCAGGTTGGCTTTGGTTGTTTTGTGTCTGAAAGGGACCAATAGACAAGGCAAAAAGGCAGACTAAAGGCAGGCATTGAATGCCAAGCTAAAGAAATTGAATTTGTTTGGTTGGTTGGTGAGCAGAGAAATCACATGCAAATTTCATCATGCTACTTATTGTGTCAAACCTTAGATCACCTCCCTTTGTCCTTATAGCAAAATCTAAACTTGATATGGCTTTCAAGTTCCTTTGTGATCAGGCCCCTGATTTACACTCTTGGCTCAGCTTGCCATATTCATCCTCTCACCTATCTTCATTTGCCATTCATTCCTACTGAATTTCTTTTCGTTACCAAAACCACAATGCTCTCTGGCTCTTTATTAAACATATTGTTACCTCTACCCACAACCTACTTTTTCCCTACTTTTTGTCTAGCTAATTTGCGTGCTCGTCTTTCAGATCTTGGCTTATTTCTGCTTCTGAGAAATACTTCCTGTCTGCCCTCGTTGAGCTTCTAGTGAAGGAGACATACATAAGCAATTATAGTGTGATACATGCTTTGAAAGAAATTCATGGCTATAGGGAGTGCATATACAAAGGGAATATAGGTAATGGGCAAATATTTACATGTATGTTATTGGATACCAAATGGTATACATAGGATTCAGTAAATATTTGTAGAGTGAGTATTAGTATTATTTGCTTTAGAAAGCCTAATGATCAAACAGCAGTCTTTGGAGATAACGTTTTTCAAAATGTCATGTCTGTGCCATTAGAATCTTCTAGACTGCTCATTGAAAGGACAGATTCCAGGCCCCACTCTGAATCTCTTAATTTATAATTTTTGGAAATGATGCCCATGAGTCTACATTTTAAACTACCTGAATGATCCCTATAGAAAGAGAAAACTGGAGGTAGGAAGATCAGTTAGGGGATGTGTAATGGTCTAGGTGATAGAGACAAGTGCCTGAATTACAGTAATAACAGTGAAAGTAAATATGGAACATAAAACTATAGGACCTTGCAGTAGTCTAGATATGGAGGATTCAAAAAAAGGAACAAATGACAGGGCAAAGCATATGCAGAACACAGTAGTAACAGTCATAGAAATGGATAAGGGAGTCATCCATTCTGCAAATACTTAGTGCTTACTTGTGTCTGGCAACCTGCTCGGCATTAAGGATACAAATATGAATAAGATGTCCTTTGACCTCTAAGTACTCAGTCTCGTAAGCACGTCTTGTAAGCACATCTTGGTTGCTTCCATAAAAATAAATACACTAGTGTGATATGTTATAAGAGCATGTACCAAGTGCATGAAAAGTGAGCAGCCATCTCTGGTTGGTCAGAAAAAGCTCCATAAAGCAGTTTTTGCTGAATCTTGAAAGATATACCTAAGGTCAAATGGTTAATTCTTTAATCATAACCTGCTAGAATTGATCTATAACCAAGGAAGGATAGTAAGGAATTAATAAGGCCACTCTCAAC	G	G32317681C	BRCA2	NM_000059.3(BRCA2):c.67+1154_316+2261del	noncoding	Pathogenic
13	32317747	A	AT	G32317752T	BRCA2	NM_000059.3(BRCA2):c.67+1224dup	noncoding	Benign
13	32318103	CAGT	C	A32318104G	BRCA2	NM_000059.3(BRCA2):c.68-973_68-971del	noncoding	Benign
13	32319060	A	AT	A32319071T	BRCA2	NM_000059.3(BRCA2):c.68-7dup	noncoding	Benign/Likely_benign
13	32319073	ATAGATTTAGGACCAATAAGTCTTAATTGGTTTGAAGAACTTTCTTCAGAAGCTCCACCCTATAATTCTGAACCTGCAGAAGAATCTGAACATAAAAACAACAATTACGAACCAAACCTATTTAAAACTCCACAAAGGAAACCATCTTATAATCAGCTGGCTTCAACTCCAATAATATTCAAAGAGCAAGGGCTGACTCTGCCGCTGTACCAATCTCCTGTAAAAGAATTAGATAAATTCAAATTAGACT	A	A32319077G	BRCA2	NM_000059.3(BRCA2):c.68_316del249:p.Asp23_Leu105del	noncoding	Pathogenic/Likely_pathogenic
13	32319077	AT	A	T32319080A	BRCA2	NM_000059.3(BRCA2):c.71del:p.Asp23_Leu24insTer	coding	Pathogenic
13	32319077	ATTTAGGACCAATAAGTCTTAATTGGT	A	T32319080G	BRCA2	NM_000059.3(BRCA2):c.71_96del:p.Asp23_Leu24insTer	coding	Pathogenic
13	32319080	TA	T	A32319081G	BRCA2	NM_000059.3(BRCA2):c.72del:p.Gly25fs	coding	Pathogenic
13	32319086	C	CA	T32319089A	BRCA2	NM_000059.4(BRCA2):c.79dup:p.Ile27fs	coding	Pathogenic
13	32319090	AAG	TAAGACT	A32319090T	BRCA2	NM_000059.3(BRCA2):c.81_83delinsTAAGACT:p.Ser28fs	coding	Pathogenic
13	32319094	CTT	C	T32319095A	BRCA2	NM_000059.3(BRCA2):c.86_87del:p.Leu29fs	coding	Pathogenic
13	32319098	A	AGT	T32319099G	BRCA2	NM_000059.4(BRCA2):c.89_90insGT:p.Asn30fs	coding	Pathogenic
13	32319098	AT	A	T32319100G	BRCA2	NM_000059.3(BRCA2):c.91del:p.Trp31fs	coding	Pathogenic
13	32319101	G	GAA	G32319102A	BRCA2	NM_000059.4(BRCA2):c.92_93insAA:p.Trp31Ter	coding	Pathogenic
13	32319111	A	AC	T32319113C	BRCA2	NM_000059.3(BRCA2):c.103dup:p.Leu35fs	coding	Pathogenic
13	32319111	ACTTT	A	T32319115C	BRCA2	NM_000059.3(BRCA2):c.106_109del:p.Ser36fs	coding	Pathogenic
13	32319111	ACTTTCTT	A	T32319113A	BRCA2	NM_000059.3(BRCA2):c.104_110del:p.Leu35fs	coding	Pathogenic
13	32319112	C	CT	C32319116T	BRCA2	NM_000059.3(BRCA2):c.106dup:p.Ser36fs	coding	Pathogenic
13	32319117	TTCAG	T	T32319118A	BRCA2	NM_000059.3(BRCA2):c.109_112del:p.Ser37fs	coding	Pathogenic
13	32319123	AG	A	G32319124C	BRCA2	NM_000059.3(BRCA2):c.115del:p.Ala39fs	coding	Pathogenic
13	32319126	TCCAC	T	A32319129T	BRCA2	NM_000059.3(BRCA2):c.120_123del:p.Pro41fs	coding	Pathogenic
13	32319131	C	CCTATAATT	G32319142A	BRCA2	NM_000059.3(BRCA2):c.125_132dup:p.Glu45fs	coding	Pathogenic
13	32319135	TAA	T	A32319136T	BRCA2	NM_000059.3(BRCA2):c.127_128del:p.Asn43fs	coding	Pathogenic
13	32319135	TA	T	A32319137T	BRCA2	NM_000059.3(BRCA2):c.128del:p.Asn43fs	coding	Pathogenic
13	32319144	AC	A	C32319146T	BRCA2	NM_000059.4(BRCA2):c.137del:p.Pro46fs	coding	Pathogenic
13	32319151	GA	G	A32319153G	BRCA2	NM_000059.3(BRCA2):c.144del:p.Glu49fs	coding	Pathogenic
13	32319159	TG	T	G32319160A	BRCA2	NM_000059.3(BRCA2):c.151del:p.Glu51fs	coding	Pathogenic
13	32319164	AT	A	T32319165A	BRCA2	NM_000059.4(BRCA2):c.156del:p.His52fs	coding	Pathogenic
13	32319165	TAA	T	A32319169C	BRCA2	NM_000059.3(BRCA2):c.160_161del:p.Asn54fs	coding	Pathogenic
13	32319165	TA	T	A32319170C	BRCA2	NM_000059.3(BRCA2):c.161del:p.Asn54fs	coding	Pathogenic
13	32319165	T	TA	C32319171A	BRCA2	NM_000059.3(BRCA2):c.161dup:p.Asn54fs	coding	Pathogenic
13	32319165	T	TGCCGGGCGCGGTCGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGACACCATCCCGGCTGAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGCCTCA	A32319166G	BRCA2	NM_000059.4(BRCA2):c.156_157insGCCGGGCGCGGTCGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGACACCATCCCGGCTGAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGCCTCA:p.Lys53delinsAlaGlyArgGlyArgSerArgLeuTer	coding	Pathogenic
13	32319170	AC	A	C32319171A	BRCA2	NM_000059.3(BRCA2):c.162del:p.Asn54fs	coding	Pathogenic
13	32319174	CA	C	A32319176T	BRCA2	NM_000059.4(BRCA2):c.167del:p.Asn56fs	coding	Pathogenic
13	32319176	ATTACGAACCAAACCTAT	A	C32319180A	BRCA2	NM_000059.4(BRCA2):c.171_187del:p.Tyr57_Lys63delinsTer	coding	Pathogenic
13	32319178	T	TA	C32319180A	BRCA2	NM_000059.3(BRCA2):c.170dupA:p.Tyr57Terfs	coding	Pathogenic
13	32319179	AC	A	C32319180G	BRCA2	NM_000059.3(BRCA2):c.171del:p.Asn56_Tyr57insTer	coding	Pathogenic
13	32319183	AC	A	C32319185A	BRCA2	NM_000059.3(BRCA2):c.176del:p.Pro59fs	coding	Pathogenic
13	32319192	AT	A	T32319195A	BRCA2	NM_000059.3(BRCA2):c.186del:p.Phe62fs	coding	Pathogenic
13	32319201	TC	T	C32319203A	BRCA2	NM_000059.3(BRCA2):c.194del:p.Pro65fs	coding	Pathogenic
13	32319207	AAGGAAACCATCTTATAATC	A	G32319210C	BRCA2	NM_000059.3(BRCA2):c.201_219del:p.Arg67fs	coding	Pathogenic
13	32319209	G	GGA	A32319212G	BRCA2	NM_000059.3(BRCA2):c.201_202dup:p.Lys68fs	coding	Pathogenic
13	32319210	GAAACCATCTTATAATC	G	A32319212G	BRCA2	NM_000059.3(BRCA2):c.203_218del:p.Lys68fs	coding	Pathogenic
13	32319210	GA	G	A32319213C	BRCA2	NM_000059.3(BRCA2):c.204del:p.Lys68fs	coding	Pathogenic
13	32319210	G	GA	C32319214A	BRCA2	NM_000059.3(BRCA2):c.204dup:p.Pro69fs	coding	Pathogenic
13	32319220	T	TA	T32319222A	BRCA2	NM_000059.3(BRCA2):c.212dup:p.Tyr71Ter	coding	Pathogenic
13	32319224	A	TT	A32319224T	BRCA2	NM_000059.3(BRCA2):c.215delinsTT:p.Asn72fs	coding	Pathogenic
13	32319225	TC	T	C32319226A	BRCA2	NM_000059.3(BRCA2):c.217del:p.Gln73fs	coding	Pathogenic
13	32319229	CT	C	T32319230G	BRCA2	NM_000059.3(BRCA2):c.221del:p.Leu74fs	coding	Pathogenic
13	32319232	G	GA	C32319233A	BRCA2	NM_000059.3(BRCA2):c.223_224insA:p.Ala75fs	coding	Pathogenic
13	32319233	C	CA	T32319234A	BRCA2	NM_000059.3(BRCA2):c.224_225insA:p.Ser76fs	coding	Pathogenic
13	32319239	CTCCAATAATATTCAAAGAGCAA	C	T32319240G	BRCA2	NM_000059.3(BRCA2):c.231_252del:p.Pro78fs	coding	Pathogenic
13	32319252	CA	C	A32319255G	BRCA2	NM_000059.3(BRCA2):c.246del:p.Glu83fs	coding	Pathogenic
13	32319252	C	CA	G32319256A	BRCA2	NM_000059.3(BRCA2):c.246dup:p.Glu83fs	coding	Pathogenic
13	32319254	AAG	A	A32319257C	BRCA2	NM_000059.3(BRCA2):c.246_247AG[1]:p.Glu83fs	coding	Pathogenic
13	32319258	GC	G	C32319259A	BRCA2	NM_000059.3(BRCA2):c.250del:p.Gln84fs	coding	Pathogenic
13	32319268	ACT	A	C32319271G	BRCA2	NM_000059.4(BRCA2):c.260_261CT[1]:p.Leu88fs	coding	Pathogenic
13	32319271	CT	C	T32319272G	BRCA2	NM_000059.3(BRCA2):c.263del:p.Leu88fs	coding	Pathogenic
13	32319273	GC	G	C32319275G	BRCA2	NM_000059.3(BRCA2):c.266del:p.Pro89fs	coding	Pathogenic
13	32319274	CCG	C	G32319276T	BRCA2	NM_000059.3(BRCA2):c.267_268del:p.Leu90fs	coding	Pathogenic
13	32319278	T	TGTAC	C32319283G	BRCA2	NM_000059.3(BRCA2):c.270_273dup:p.Gln92fs	coding	Pathogenic
13	32319279	GTA	G	T32319280C	BRCA2	NM_000059.3(BRCA2):c.271_272del:p.Tyr91fs	coding	Pathogenic
13	32319281	AC	A	C32319283A	BRCA2	NM_000059.3(BRCA2):c.274del:p.Gln92fs	coding	Pathogenic
13	32319283	C	CA	T32319286A	BRCA2	NM_000059.3(BRCA2):c.276dupA:p.Ser93Ilefs	coding	Pathogenic
13	32319284	A	ACCAT	A32319285C	BRCA2	NM_000059.3(BRCA2):c.275_276insCCAT:p.Gln92fs	coding	Pathogenic
13	32319312	C	CA	T32319316A	BRCA2	NM_000059.3(BRCA2):c.306dup:p.Leu103fs	coding	Pathogenic
13	32319315	A	AT	A32319318T	BRCA2	NM_000059.3(BRCA2):c.308dup:p.Leu103fs	coding	Pathogenic/Likely_pathogenic
13	32319315	AT	A	T32319317A	BRCA2	NM_000059.4(BRCA2):c.308del:p.Lys102_Leu103insTer	coding	Pathogenic
13	32319321	CT	C	T32319323A	BRCA2	NM_000059.3(BRCA2):c.314del:p.Asp104_Leu105insTer	coding	Pathogenic
13	32319327	TA	T	A32319329G	BRCA2	NM_000059.3(BRCA2):c.316+4del	noncoding	Pathogenic
13	32319631	TTAAAC	T	A32319639T	BRCA2	NM_000059.3(BRCA2):c.316+314_316+318del	noncoding	Benign
13	32325099	CAT	C	T32325101A	BRCA2	NM_000059.3(BRCA2):c.342_343del:p.His114fs	coding	Pathogenic
13	32325100	A	AT	A32325102T	BRCA2	NM_000059.3(BRCA2):c.342dup:p.Lys115Ter	coding	Pathogenic
13	32325106	GTC	G	C32325108T	BRCA2	NM_000059.3(BRCA2):c.349_350del:p.Leu117fs	coding	Pathogenic
13	32325109	TTC	T	T32325110G	BRCA2	NM_000059.4(BRCA2):c.351_352del:p.Arg118fs	coding	Pathogenic
13	32325119	GA	G	A32325123C	BRCA2	NM_000059.3(BRCA2):c.364del:p.Thr122fs	coding	Pathogenic
13	32325125	TAAAA	T	A32325126T	BRCA2	NM_000059.3(BRCA2):c.367_370del:p.Lys123fs	coding	Pathogenic
13	32325125	TA	T	A32325129T	BRCA2	NM_000059.3(BRCA2):c.370del:p.Met124fs	coding	Pathogenic
13	32325126	AAAATG	A	A32325127G	BRCA2	NM_000059.3(BRCA2):c.368_372del:p.Lys123fs	coding	Pathogenic
13	32325127	AAATGG	A	A32325129T	BRCA2	NM_000059.3(BRCA2):c.370_374del:p.Met124fs	coding	Pathogenic
13	32325128	AAT	TA	A32325128T	BRCA2	NM_000059.3(BRCA2):c.369_371delinsTA:p.Lys123fs	coding	Pathogenic
13	32325135	C	CA	G32325138A	BRCA2	NM_000059.3(BRCA2):c.378dup:p.Ala127fs	coding	Pathogenic
13	32325144	GA	G	A32325145T	BRCA2	NM_000059.4(BRCA2):c.386del:p.Asp129fs	coding	Pathogenic
13	32325147	GT	G	T32325150C	BRCA2	NM_000059.3(BRCA2):c.391del:p.Ser131fs	coding	Pathogenic
13	32325161	T	TCTAAATTC	T32325170C	BRCA2	NM_000059.3(BRCA2):c.403_410dup:p.Cys138_Leu139insTer	coding	Pathogenic/Likely_pathogenic
13	32325163	TA	T	A32325166T	BRCA2	NM_000059.3(BRCA2):c.407del:p.Asn136fs	coding	Pathogenic
13	32325167	TTCTTG	T	G32325172A	BRCA2	NM_000059.3(BRCA2):c.413_417del:p.Ser137_Cys138insTer	coding	Pathogenic
13	32325168	TC	T	C32325169T	BRCA2	NM_000059.3(BRCA2):c.410del:p.Ser137fs	coding	Pathogenic
13	32325177	AG	A	G32325178T	BRCA2	NM_000059.3(BRCA2):c.419del:p.Ser140fs	coding	Pathogenic
13	32325460	AAGTC	A	A32325465C	BRCA2	NM_000059.3(BRCA2):c.425+281_425+284del	noncoding	Benign
13	32326092	TTATTTTAGTCCTGTTGTTC	T	T32326095C	BRCA2	NM_000059.3(BRCA2):c.426-6_438del	noncoding	Pathogenic
13	32326101	TC	T	C32326103T	BRCA2	NM_000059.3(BRCA2):c.428del:p.Pro143fs	coding	Pathogenic
13	32326101	T	TC	T32326104C	BRCA2	NM_000059.3(BRCA2):c.428dup:p.Val144fs	coding	Pathogenic
13	32326103	CT	C	T32326104G	BRCA2	NM_000059.3(BRCA2):c.429del:p.Val144fs	coding	Pathogenic
13	32326106	TTGTTCTACAA	T	T32326110A	BRCA2	NM_000059.4(BRCA2):c.435_444del:p.Leu146fs	coding	Pathogenic
13	32326106	TTGTTC	T	G32326108A	BRCA2	NM_000059.3(BRCA2):c.433_437del:p.Val145fs	coding	Pathogenic
13	32326112	TA	T	A32326113C	BRCA2	NM_000059.3(BRCA2):c.438del:p.Gln147fs	coding	Pathogenic
13	32326114	CA	C	A32326116T	BRCA2	NM_000059.3(BRCA2):c.441del:p.Gln147fs	coding	Pathogenic
13	32326124	A	ATG	A32326128G	BRCA2	NM_000059.3(BRCA2):c.451_452dup:p.Val151_Thr152insTer	coding	Pathogenic
13	32326135	CAA	C	A32326137G	BRCA2	NM_000059.3(BRCA2):c.462_463del:p.Arg155_Asp156insTer	coding	Pathogenic
13	32326137	AAG	A	G32326141T	BRCA2	NM_000059.4(BRCA2):c.464_465GA[1]:p.Arg155_Asp156insTer	coding	Pathogenic
13	32326138	AGAGAT	A	G32326139A	BRCA2	NM_000059.3(BRCA2):c.464_468del:p.Arg155fs	coding	Pathogenic
13	32326140	A	AT	G32326141T	BRCA2	NM_000059.3(BRCA2):c.465_466insT:p.Asp156Ter	coding	Pathogenic
13	32326142	A	AT	A32326144T	BRCA2	NM_000059.3(BRCA2):c.468dup:p.Lys157Ter	coding	Pathogenic
13	32326143	TAAGTC	T	A32326145G	BRCA2	NM_000059.3(BRCA2):c.470_474del:p.Lys157fs	coding	Pathogenic
13	32326143	TAA	T	A32326144G	BRCA2	NM_000059.3(BRCA2):c.469_470del:p.Lys157fs	coding	Pathogenic
13	32326143	TA	T	A32326145G	BRCA2	NM_000059.3(BRCA2):c.470del:p.Lys157fs	coding	Pathogenic
13	32326143	T	TA	G32326146A	BRCA2	NM_000059.3(BRCA2):c.470dup:p.Ser158fs	coding	Pathogenic
13	32326144	A	AT	A32326145T	BRCA2	NM_000059.3(BRCA2):c.469_470insT:p.Lys157fs	coding	Pathogenic
13	32326145	AG	A	G32326146T	BRCA2	NM_000059.3(BRCA2):c.471del:p.Lys157fs	coding	Pathogenic
13	32326146	G	GA	T32326147A	BRCA2	NM_000059.3(BRCA2):c.471_472insA:p.Ser158fs	coding	Pathogenic
13	32326237	CCCAG	C	C32326238T	BRCA2	NM_000059.3(BRCA2):c.476-4_476-1del	noncoding	Pathogenic
13	32326249	TG	T	G32326252A	BRCA2	NM_000059.3(BRCA2):c.486del:p.Ser163fs	coding	Pathogenic
13	32326253	A	AG	T32326255G	BRCA2	NM_000059.3(BRCA2):c.488dup:p.Ser163fs	coding	Pathogenic
13	32326253	AGT	A	G32326254T	BRCA2	NM_000059.3(BRCA2):c.488_489del:p.Ser163fs	coding	Pathogenic
13	32326255	T	TG	T32326256G	BRCA2	NM_000059.3(BRCA2):c.489_490insG:p.Leu164fs	coding	Pathogenic
13	32326258	GT	G	T32326261C	BRCA2	NM_000059.3(BRCA2):c.495del:p.His166fs	coding	Pathogenic
13	32326269	CA	C	A32326272G	BRCA2	NM_000059.3(BRCA2):c.506del:p.Lys169fs	coding	Pathogenic
13	32326277	G	GT	G32326279T	BRCA2	NM_000059.3(BRCA2):c.512dup:p.Lys172fs	coding	Pathogenic
13	32326281	A	AC	G32326282C	BRCA2	NM_000059.3(BRCA2):c.515_516insC:p.Lys172fs	coding	Pathogenic
13	32326281	AG	A	G32326283T	BRCA2	NM_000059.3(BRCA2):c.516+1del	coding	Pathogenic
13	32326497	AG	A	G32326500T	BRCA2	NM_000059.4(BRCA2):c.518del:p.Gly173Valfs	noncoding	Pathogenic
13	32326503	GT	G	T32326504C	BRCA2	NM_000059.3(BRCA2):c.522del:p.Gln175fs	coding	Pathogenic
13	32326508	ACACC	A	C32326509A	BRCA2	NM_000059.3(BRCA2):c.527_530del:p.Thr176fs	coding	Pathogenic
13	32326515	AACATAT	GAC	A32326515G	BRCA2	NM_000059.3(BRCA2):c.533_539delinsGAC:p.Lys178fs	coding	Pathogenic
13	32326517	CAT	C	A32326520T	BRCA2	NM_000059.3(BRCA2):c.536_537AT[1]:p.Ile180fs	coding	Pathogenic
13	32326517	C	CAT	T32326522A	BRCA2	NM_000059.3(BRCA2):c.536_537AT[3]:p.Ser181fs	coding	Pathogenic
13	32326518	A	AT	A32326520T	BRCA2	NM_000059.3(BRCA2):c.537dup:p.Ile180fs	coding	Pathogenic
13	32326520	AT	A	T32326523C	BRCA2	NM_000059.3(BRCA2):c.541del:p.Ser181fs	coding	Pathogenic
13	32326545	T	TG	A32326548G	BRCA2	NM_000059.3(BRCA2):c.565dup:p.Asp189fs	coding	Pathogenic
13	32326547	GATCCTGAT	G	C32326550G	BRCA2	NM_000059.3(BRCA2):c.568_575del:p.Pro190fs	coding	Pathogenic
13	32326548	A	AG	T32326549G	BRCA2	NM_000059.3(BRCA2):c.566_567insG:p.Asp189fs	coding	Pathogenic
13	32326550	C	CAACG	C32326551A	BRCA2	NM_000059.3(BRCA2):c.568_569insAACG:p.Pro190fs	coding	Pathogenic
13	32326551	C	CAACG	T32326552A	BRCA2	NM_000059.3(BRCA2):c.569_570insAACG:p.Asp191fs	coding	Pathogenic
13	32326553	GAT	G	A32326556G	BRCA2	NM_000059.3(BRCA2):c.572_573AT[1]:p.Met192fs	coding	Pathogenic
13	32326554	A	CT	A32326554C	BRCA2	NM_000059.3(BRCA2):c.572delinsCT:p.Asp191fs	coding	Pathogenic
13	32326555	T	TA	T32326557A	BRCA2	NM_000059.3(BRCA2):c.574dup:p.Met192fs	coding	Pathogenic
13	32326564	GT	G	T32326565C	BRCA2	NM_000059.3(BRCA2):c.583del:p.Ser195fs	coding	Pathogenic
13	32326574	TTAGC	T	G32326577C	BRCA2	NM_000059.3(BRCA2):c.595_598del:p.Ala199fs	coding	Pathogenic
13	32326575	TAGC	AGG	T32326575A	BRCA2	NM_000059.3(BRCA2):c.593_596delinsAGG:p.Leu198_Ala199delinsTer	coding	Pathogenic
13	32326575	T	TAGCTA	C32326581A	BRCA2	NM_000059.3(BRCA2):c.594_598dup:p.Thr200fs	coding	Pathogenic
13	32326576	A	AGCTAC	A32326582G	BRCA2	NM_000059.3(BRCA2):c.595_599dup:p.Pro201fs	coding	Pathogenic
13	32326584	CA	C	A32326585C	BRCA2	NM_000059.4(BRCA2):c.603del:p.Thr203fs	coding	Pathogenic
13	32326589	A	AC	T32326593C	BRCA2	NM_000059.3(BRCA2):c.610dup:p.Leu204fs	coding	Pathogenic/Likely_pathogenic
13	32326589	AC	A	C32326592T	BRCA2	NM_000059.3(BRCA2):c.610del:p.Ser205fs	coding	Pathogenic
13	32326591	C	CCTTA	G32326596C	BRCA2	NM_000059.3(BRCA2):c.610_613dup:p.Ser205delinsThrTer	coding	Pathogenic
13	32326594	TAG	T	A32326595T	BRCA2	NM_000059.4(BRCA2):c.613_614del:p.Ser205fs	coding	Pathogenic
13	32326594	T	TTGAG	A32326595T	BRCA2	NM_000059.3(BRCA2):c.612_613insTGAG:p.Ser205Ter	coding	Pathogenic
13	32326595	A	ATGAG	G32326596T	BRCA2	NM_000059.3(BRCA2):c.613_614insTGAG:p.Ser205fs	coding	Pathogenic
13	32326595	AG	A	G32326596T	BRCA2	NM_000059.3(BRCA2):c.614del:p.Ser205fs	coding	Pathogenic
13	32328875	A	AGT	A32328894G	BRCA2	NM_000059.3(BRCA2):c.632-567GT[10]	noncoding	Benign
13	32329440	CA	C	A32329441G	BRCA2	NM_000059.3(BRCA2):c.632-2del	noncoding	Pathogenic
13	32329444	CAG	C	G32329446A	BRCA2	NM_000059.3(BRCA2):c.635_636del:p.Arg212fs	coding	Pathogenic
13	32329449	AT	A	T32329450G	BRCA2	NM_000059.4(BRCA2):c.639del:p.Asn213fs	coding	Pathogenic
13	32329467	CTG	C	G32329469A	BRCA2	NM_000059.3(BRCA2):c.658_659del:p.Val220fs	coding	Pathogenic
13	32329471	ATT	A	T32329473C	BRCA2	NM_000059.3(BRCA2):c.662_663del:p.Phe221fs	coding	Pathogenic
13	32329474	TCC	T	C32329475T	BRCA2	NM_000059.3(BRCA2):c.664_665del:p.Pro222fs	coding	Pathogenic
13	32329478	CA	C	A32329479T	BRCA2	NM_000059.3(BRCA2):c.668del:p.His223fs	coding	Pathogenic
13	32329480	T	TGATA	C32329485G	BRCA2	NM_000059.3(BRCA2):c.670_673dup:p.Thr225fs	coding	Pathogenic
13	32329481	GATACTACTGCTGTAAGTAAATATGACATTGATT	G	T32329483G	BRCA2	NM_000059.3(BRCA2):c.672_681+23del	coding	Pathogenic
13	32329483	TACTA	T	A32329484C	BRCA2	NM_000059.3(BRCA2):c.673_676del:p.Thr225fs	coding	Pathogenic
13	32329484	AC	A	C32329485T	BRCA2	NM_000059.3(BRCA2):c.674del:p.Thr225fs	coding	Pathogenic
13	32329487	AC	A	C32329488T	BRCA2	NM_000059.3(BRCA2):c.677del:p.Thr226fs	coding	Pathogenic
13	32330904	CTA	C	T32330907A	BRCA2	NM_000059.4(BRCA2):c.682-12_682-11del	noncoding	Benign/Likely_benign
13	32330916	CA	C	A32330917G	BRCA2	NM_000059.4(BRCA2):c.682-2del	noncoding	Pathogenic
13	32330928	A	AG	C32330930G	BRCA2	NM_000059.4(BRCA2):c.692dup:p.Ser231fs	coding	Pathogenic
13	32330930	C	CT	A32330932T	BRCA2	NM_000059.3(BRCA2):c.694dup:p.Tyr232fs	coding	Pathogenic
13	32330932	AT	A	T32330937C	BRCA2	NM_000059.3(BRCA2):c.700del:p.Ser234fs	coding	Pathogenic
13	32330937	TC	T	C32330939A	BRCA2	NM_000059.3(BRCA2):c.702del:p.Asn235fs	coding	Pathogenic
13	32330941	AT	A	T32330942C	BRCA2	NM_000059.3(BRCA2):c.705del:p.His236fs	coding	Pathogenic
13	32330948	T	TG	A32330950G	BRCA2	NM_000059.3(BRCA2):c.712dup:p.Glu238fs	coding	Pathogenic
13	32330949	GA	G	A32330952G	BRCA2	NM_000059.3(BRCA2):c.715del:p.Ser239fs	coding	Pathogenic
13	32330949	G	GA	G32330953A	BRCA2	NM_000059.3(BRCA2):c.715dup:p.Ser239fs	coding	Pathogenic
13	32330953	GTC	G	C32330955G	BRCA2	NM_000059.3(BRCA2):c.718_719del:p.Leu240fs	coding	Pathogenic/Likely_pathogenic
13	32330959	AG	A	G32330960A	BRCA2	NM_000059.3(BRCA2):c.723del:p.Asn243fs	coding	Pathogenic
13	32330960	GA	CT	G32330960C	BRCA2	NM_000059.3(BRCA2):c.723_724delinsCT:p.Lys241_Lys242delinsAsnTer	coding	Pathogenic
13	32330960	G	GA	T32330966A	BRCA2	NM_000059.3(BRCA2):c.728dup:p.Asn243fs	coding	Pathogenic
13	32330964	AAT	A	A32330965G	BRCA2	NM_000059.4(BRCA2):c.728_729del:p.Asn243fs	coding	Pathogenic
13	32330965	A	AC	T32330966C	BRCA2	NM_000059.3(BRCA2):c.728_729insC:p.Asn243_Asp244insTer	coding	Pathogenic
13	32330965	A	AT	G32330967T	BRCA2	NM_000059.3(BRCA2):c.729dup:p.Asp244Ter	coding	Pathogenic
13	32330965	ATGAT	A	T32330966A	BRCA2	NM_000059.3(BRCA2):c.729_732del:p.Asn243fs	coding	Pathogenic
13	32330966	T	TC	G32330967C	BRCA2	NM_000059.3(BRCA2):c.729_730insC:p.Asp244fs	coding	Pathogenic
13	32330967	GAT	G	T32330969G	BRCA2	NM_000059.4(BRCA2):c.732_733del:p.Asp244fs	coding	Pathogenic
13	32330969	TAGATTTATCGCTTCTGTGAC	T	T32330973C	BRCA2	NM_000059.3(BRCA2):c.736_755del:p.Phe246fs	coding	Pathogenic
13	32330969	TA	T	A32330970G	BRCA2	NM_000059.3(BRCA2):c.733del:p.Arg245fs	coding	Pathogenic
13	32330972	AT	A	T32330975A	BRCA2	NM_000059.4(BRCA2):c.738del:p.Phe246fs	coding	Pathogenic
13	32330974	TTA	T	A32330976C	BRCA2	NM_000059.3(BRCA2):c.739_740del:p.Ile247fs	coding	Pathogenic
13	32330976	A	AAG	T32330977A	BRCA2	NM_000059.3(BRCA2):c.739_740insAG:p.Ile247fs	coding	Pathogenic
13	32330977	T	TAG	C32330978A	BRCA2	NM_000059.3(BRCA2):c.740_741insAG:p.Ser249fs	coding	Pathogenic
13	32330979	GC	G	C32330980T	BRCA2	NM_000059.3(BRCA2):c.743del:p.Ala248fs	coding	Pathogenic
13	32330981	TTCTGTGACAGACA	T	T32330982G	BRCA2	NM_000059.3(BRCA2):c.745_757del:p.Ser249fs	coding	Pathogenic
13	32330984	TG	T	G32330985T	BRCA2	NM_000059.3(BRCA2):c.748del:p.Ser249_Val250insTer	coding	Pathogenic
13	32330986	TGACA	T	A32330992T	BRCA2	NM_000059.3(BRCA2):c.751_754ACAG[1]:p.Asp252fs	coding	Pathogenic
13	32330989	CAG	C	G32330991C	BRCA2	NM_000059.3(BRCA2):c.754_755del:p.Asp252fs	coding	Pathogenic
13	32330991	GAC	G	C32330993G	BRCA2	NM_000059.3(BRCA2):c.756_757del:p.Asp252fs	coding	Pathogenic
13	32330991	GA	G	A32330992C	BRCA2	NM_000059.3(BRCA2):c.755del:p.Asp252fs	coding	Pathogenic
13	32330992	ACAGT	A	C32330993G	BRCA2	NM_000059.3(BRCA2):c.756_759del:p.Asp252fs	coding	Pathogenic
13	32330993	CAG	C	A32330994T	BRCA2	NM_000059.3(BRCA2):c.757_758del:p.Asp252_Ser253insTer	coding	Pathogenic
13	32330997	G	GA	C32331002A	BRCA2	NM_000059.3(BRCA2):c.764dup:p.Asn255fs	coding	Pathogenic/Likely_pathogenic
13	32331000	AAC	A	C32331004A	BRCA2	NM_000059.3(BRCA2):c.765_766CA[1]:p.Thr256fs	coding	Pathogenic
13	32331002	CACAAA	AAACAAT	C32331002A	BRCA2	NM_000059.3(BRCA2):c.765_770delinsAAACAAT:p.Asn255fs	coding	Pathogenic
13	32331003	ACAAAT	A	T32331008G	BRCA2	NM_000059.3(BRCA2):c.771_775del:p.Asn257fs	coding	Pathogenic
13	32331003	AC	A	C32331004A	BRCA2	NM_000059.3(BRCA2):c.767del:p.Thr256fs	coding	Pathogenic
13	32331004	CA	C	A32331007T	BRCA2	NM_000059.4(BRCA2):c.770del:p.Asn257fs	coding	Pathogenic
13	32331009	CAAAG	C	A32331011G	BRCA2	NM_000059.3(BRCA2):c.774_777del:p.Arg259fs	coding	Pathogenic
13	32331009	CAA	C	A32331011G	BRCA2	NM_000059.3(BRCA2):c.774_775del:p.Glu260fs	coding	Pathogenic
13	32331009	CA	C	A32331012G	BRCA2	NM_000059.3(BRCA2):c.775del:p.Arg259fs	coding	Pathogenic
13	32331011	AAG	A	G32331015A	BRCA2	NM_000059.3(BRCA2):c.776_777GA[1]:p.Glu260fs	coding	Pathogenic
13	32331022	C	CA	G32331025A	BRCA2	NM_000059.3(BRCA2):c.787dup:p.Ser263fs	coding	Pathogenic
13	32331082	AT	A	T32331094G	BRCA2	NM_000059.3(BRCA2):c.793+64del	noncoding	Benign
13	32332273	AT	A	T32332276G	BRCA2	NM_000059.3(BRCA2):c.798del:p.Phe266fs	coding	Pathogenic
13	32332276	T	TG	A32332279G	BRCA2	NM_000059.3(BRCA2):c.800dup:p.Thr269fs	coding	Pathogenic
13	32332278	G	GA	C32332284A	BRCA2	NM_000059.3(BRCA2):c.805dup:p.Thr269fs	coding	Pathogenic
13	32332283	AC	A	C32332284A	BRCA2	NM_000059.4(BRCA2):c.806del:p.Thr269fs	coding	Pathogenic
13	32332288	AG	A	G32332291A	BRCA2	NM_000059.3(BRCA2):c.813del:p.Asn272fs	coding	Pathogenic
13	32332299	TTAAAG	T	G32332304T	BRCA2	NM_000059.3(BRCA2):c.826_830del:p.Lys275_Val276insTer	coding	Pathogenic
13	32332308	A	AT	A32332310T	BRCA2	NM_000059.3(BRCA2):c.831dup:p.Ser278Ter	coding	Pathogenic
13	32332308	AT	A	T32332309A	BRCA2	NM_000059.3(BRCA2):c.831del:p.Asn277fs	coding	Pathogenic
13	32332310	AG	A	G32332311C	BRCA2	NM_000059.3(BRCA2):c.833del:p.Ser278fs	coding	Pathogenic
13	32332311	GC	G	C32332312T	BRCA2	NM_000059.3(BRCA2):c.834del:p.Cys279fs	coding	Pathogenic
13	32332317	AAGACCAC	A	G32332319T	BRCA2	NM_000059.4(BRCA2):c.841_847del:p.Asp281fs	coding	Pathogenic
13	32332319	GAC	G	A32332320C	BRCA2	NM_000059.3(BRCA2):c.842_843del:p.Asp281fs	coding	Pathogenic
13	32332321	CCA	C	C32332324T	BRCA2	NM_000059.3(BRCA2):c.844_845CA[1]:p.Ile283fs	coding	Pathogenic
13	32332333	G	GTCAA	G32332339C	BRCA2	NM_000059.3(BRCA2):c.857_860dup:p.Met287fs	coding	Pathogenic
13	32332361	GT	G	T32332362A	BRCA2	NM_000059.3(BRCA2):c.884del:p.Val295fs	coding	Pathogenic
13	32332369	AACAGTTGT	GATACTTCAG	A32332369G	BRCA2	NM_000059.4(BRCA2):c.891_899delinsGATACTTCAG:p.Thr298fs	coding	Pathogenic
13	32332373	G	GT	G32332376T	BRCA2	NM_000059.3(BRCA2):c.897dup:p.Val300fs	coding	Pathogenic
13	32332374	T	TC	T32332375C	BRCA2	NM_000059.3(BRCA2):c.896_897insC:p.Val300fs	coding	Pathogenic
13	32332375	T	TC	G32332376C	BRCA2	NM_000059.3(BRCA2):c.897_898insC:p.Val300fs	coding	Pathogenic
13	32332376	GTA	TT	G32332376T	BRCA2	NM_000059.3(BRCA2):c.898_900delinsTT:p.Val300fs	coding	Pathogenic
13	32332378	A	AG	A32332380G	BRCA2	NM_000059.3(BRCA2):c.901dupG:p.Asp301Glyfs	coding	Pathogenic
13	32332381	T	TA	C32332383A	BRCA2	NM_000059.3(BRCA2):c.904dup:p.Thr302fs	coding	Pathogenic
13	32332382	AC	A	C32332384T	BRCA2	NM_000059.3(BRCA2):c.906del:p.Ser303fs	coding	Pathogenic
13	32332383	C	CA	C32332384A	BRCA2	NM_000059.3(BRCA2):c.905_906insA:p.Ser303fs	coding	Pathogenic
13	32332392	AAGAT	A	A32332395T	BRCA2	NM_000059.3(BRCA2):c.917_920del:p.Asp306fs	coding	Pathogenic
13	32332394	GAT	G	T32332396G	BRCA2	NM_000059.3(BRCA2):c.918_919del:p.Asp306fs	coding	Pathogenic
13	32332395	A	AT	A32332397T	BRCA2	NM_000059.3(BRCA2):c.918dup:p.Ser307Ter	coding	Pathogenic
13	32332395	A	ATAGT	T32332401A	BRCA2	NM_000059.3(BRCA2):c.919_922dup:p.Phe308Ter	coding	Pathogenic
13	32332397	A	AT	G32332398T	BRCA2	NM_000059.3(BRCA2):c.919_920insT:p.Ser307fs	coding	Pathogenic
13	32332398	G	GT	C32332404T	BRCA2	NM_000059.3(BRCA2):c.925dup:p.Ser309fs	coding	Pathogenic
13	32332398	GT	G	T32332403C	BRCA2	NM_000059.3(BRCA2):c.925del:p.Ser309fs	coding	Pathogenic
13	32332403	T	TC	A32332405C	BRCA2	NM_000059.3(BRCA2):c.926dup:p.Leu310fs	coding	Pathogenic
13	32332404	CA	C	A32332405T	BRCA2	NM_000059.3(BRCA2):c.927del:p.Leu310fs	coding	Pathogenic
13	32332406	TTA	T	A32332408G	BRCA2	NM_000059.3(BRCA2):c.930_931del:p.Cys311fs	coding	Pathogenic
13	32332425	GA	G	A32332427C	BRCA2	NM_000059.3(BRCA2):c.949del:p.Thr317fs	coding	Pathogenic
13	32332428	CA	C	A32332434T	BRCA2	NM_000059.3(BRCA2):c.956del:p.Asn319fs	coding	Pathogenic
13	32332428	C	CA	T32332435A	BRCA2	NM_000059.3(BRCA2):c.956dupA:p.Asn319Lysfs	coding	Pathogenic
13	32332436	CT	C	T32332437A	BRCA2	NM_000059.3(BRCA2):c.959del:p.Leu320fs	coding	Pathogenic
13	32332439	CAAAA	C	A32332441G	BRCA2	NM_000059.3(BRCA2):c.963_966del:p.Gln321_Lys322insTer	coding	Pathogenic
13	32332442	AAAGT	A	T32332446A	BRCA2	NM_000059.3(BRCA2):c.968_971del:p.Val323fs	coding	Pathogenic
13	32332446	TAAGA	T	A32332448C	BRCA2	NM_000059.3(BRCA2):c.970_973del:p.Arg324fs	coding	Pathogenic
13	32332465	GAA	G	A32332471T	BRCA2	NM_000059.3(BRCA2):c.993_994del:p.Lys331fs	coding	Pathogenic
13	32332465	GA	G	A32332472T	BRCA2	NM_000059.3(BRCA2):c.994del:p.Ile332fs	coding	Pathogenic
13	32332465	G	GAA	T32332473A	BRCA2	NM_000059.3(BRCA2):c.993_994dup:p.Ile332fs	coding	Pathogenic
13	32332465	G	GA	T32332473A	BRCA2	NM_000059.3(BRCA2):c.994dup:p.Ile332fs	coding	Pathogenic
13	32332472	A	AG	T32332473G	BRCA2	NM_000059.3(BRCA2):c.994_995insG:p.Ile332fs	coding	Pathogenic
13	32332472	A	AT	C32332477T	BRCA2	NM_000059.3(BRCA2):c.998dup:p.His334fs	coding	Pathogenic
13	32332473	T	TA	T32332474A	BRCA2	NM_000059.3(BRCA2):c.995_996insA:p.His334fs	coding	Pathogenic
13	32332473	T	TG	T32332474G	BRCA2	NM_000059.3(BRCA2):c.995_996insG:p.Ile332fs	coding	Pathogenic
13	32332485	C	CA	C32332489A	BRCA2	NM_000059.3(BRCA2):c.1010dup:p.Asn337fs	coding	Pathogenic
13	32332498	ATG	A	T32332501A	BRCA2	NM_000059.4(BRCA2):c.1023_1024del:p.Cys341_Glu342delinsTer	coding	Pathogenic
13	32332502	GA	G	A32332507T	BRCA2	NM_000059.3(BRCA2):c.1029del:p.Lys343fs	coding	Pathogenic
13	32332502	G	GA	T32332508A	BRCA2	NM_000059.4(BRCA2):c.1029dup:p.Ser344fs	coding	Pathogenic
13	32332517	CA	C	A32332519G	BRCA2	NM_000059.3(BRCA2):c.1041del:p.Gln347_Val348insTer	coding	Pathogenic
13	32332526	G	GA	T32332532A	BRCA2	NM_000059.3(BRCA2):c.1053dup:p.Tyr352fs	coding	Pathogenic
13	32332531	A	AT	A32332533T	BRCA2	NM_000059.3(BRCA2):c.1054dup:p.Tyr352fs	coding	Pathogenic
13	32332532	T	TA	C32332534A	BRCA2	NM_000059.3(BRCA2):c.1055dup:p.Tyr352Ter	coding	Pathogenic
13	32332533	ACT	A	T32332535A	BRCA2	NM_000059.4(BRCA2):c.1057_1058del:p.Ser353fs	coding	Pathogenic
13	32332534	CT	C	T32332535C	BRCA2	NM_000059.3(BRCA2):c.1057del:p.Ser353fs	coding	Pathogenic
13	32332536	CA	C	A32332537T	BRCA2	NM_000059.3(BRCA2):c.1059del:p.Phe354fs	coding	Pathogenic
13	32332543	AT	A	T32332544C	BRCA2	NM_000059.4(BRCA2):c.1066del:p.Ser356fs	coding	Pathogenic
13	32332546	TG	T	G32332547A	BRCA2	NM_000059.3(BRCA2):c.1069del:p.Glu357fs	coding	Pathogenic
13	32332557	CA	C	A32332560T	BRCA2	NM_000059.3(BRCA2):c.1082del:p.Asn361fs	coding	Pathogenic
13	32332573	A	AT	A32332576T	BRCA2	NM_000059.3(BRCA2):c.1097dup:p.Leu366fs	coding	Pathogenic
13	32332590	CA	C	A32332593T	BRCA2	NM_000059.4(BRCA2):c.1115del:p.Asn372fs	coding	Pathogenic
13	32332592	AA	C	A32332592C	BRCA2	NM_000059.3(BRCA2):c.1114_1115delinsC:p.Asn372fs	coding	Pathogenic
13	32332592	AATC	CATT	A32332592C	BRCA2	NM_000059.3(BRCA2):c.1114_1117delinsCATT:p.Asn372_Gln373delinsHisTer	coding	Pathogenic
13	32332603	CT	C	T32332606G	BRCA2	NM_000059.3(BRCA2):c.1128del:p.Phe376fs	coding	Pathogenic
13	32332611	GT	G	T32332612G	BRCA2	NM_000059.3(BRCA2):c.1134del:p.Ser378fs	coding	Pathogenic
13	32332614	GA	G	A32332616G	BRCA2	NM_000059.4(BRCA2):c.1138del:p.Ser380fs	coding	Pathogenic
13	32332621	CA	C	A32332625T	BRCA2	NM_000059.3(BRCA2):c.1147del:p.Ile383fs	coding	Pathogenic
13	32332632	AG	A	G32332634A	BRCA2	NM_000059.3(BRCA2):c.1156del:p.Glu386fs	coding	Pathogenic
13	32332639	TGTACC	T	A32332642C	BRCA2	NM_000059.3(BRCA2):c.1164_1168del:p.Pro389fs	coding	Pathogenic
13	32332640	G	GTACC	G32332645T	BRCA2	NM_000059.3(BRCA2):c.1163_1166dup:p.Ser390fs	coding	Pathogenic
13	32332653	CCTGTG	C	C32332654A	BRCA2	NM_000059.3(BRCA2):c.1176_1180del:p.Cys393fs	coding	Pathogenic
13	32332663	GTCTCAACTAACCCT	G	C32332665T	BRCA2	NM_000059.3(BRCA2):c.1187_1200del:p.Ser396fs	coding	Pathogenic
13	32332665	C	CTTTA	C32332667T	BRCA2	NM_000059.3(BRCA2):c.1188_1189insTTAT:p.Gln397fs	coding	Pathogenic
13	32332666	TCAACTAAC	T	A32332668C	BRCA2	NM_000059.3(BRCA2):c.1190_1197del:p.Gln397fs	coding	Pathogenic
13	32332666	T	TCAAC	T32332671C	BRCA2	NM_000059.3(BRCA2):c.1189_1192dup:p.Leu398fs	coding	Pathogenic
13	32332666	T	TCCAA	A32332668C	BRCA2	NM_000059.3(BRCA2):c.1189_1190insCAAC:p.Gln397fs	coding	Pathogenic
13	32332666	T	TTTAG	C32332667T	BRCA2	NM_000059.3(BRCA2):c.1188_1189insTTAG:p.Gln397fs	coding	Pathogenic
13	32332667	C	CTTAG	A32332668T	BRCA2	NM_000059.4(BRCA2):c.1189_1190insTTAG:p.Gln397fs	coding	Pathogenic
13	32332667	C	CTTAT	A32332668T	BRCA2	NM_000059.3(BRCA2):c.1189_1190insTTAT:p.Gln397fs	coding	Pathogenic
13	32332668	A	ATTAG	A32332669T	BRCA2	NM_000059.4(BRCA2):c.1190_1191insTTAG:p.Gln397delinsHisTer	coding	Pathogenic
13	32332669	AC	A	C32332670T	BRCA2	NM_000059.3(BRCA2):c.1192del:p.Gln397_Leu398insTer	coding	Pathogenic
13	32332671	TA	T	A32332673C	BRCA2	NM_000059.3(BRCA2):c.1195del:p.Thr399fs	coding	Pathogenic
13	32332681	AG	A	G32332683T	BRCA2	NM_000059.3(BRCA2):c.1205del:p.Gly402fs	coding	Pathogenic
13	32332686	T	TA	T32332690A	BRCA2	NM_000059.3(BRCA2):c.1211dup:p.Asn404fs	coding	Pathogenic
13	32332689	AT	A	T32332690G	BRCA2	NM_000059.3(BRCA2):c.1212del:p.Asn404fs	coding	Pathogenic
13	32332694	GC	G	C32332697A	BRCA2	NM_000059.3(BRCA2):c.1219del:p.Gln407fs	coding	Pathogenic
13	32332701	TG	T	G32332703A	BRCA2	NM_000059.3(BRCA2):c.1225del:p.Glu409fs	coding	Pathogenic
13	32332703	GA	G	A32332704G	BRCA2	NM_000059.3(BRCA2):c.1226del:p.Glu409fs	coding	Pathogenic
13	32332703	G	TTT	G32332703T	BRCA2	NM_000059.3(BRCA2):c.1225delinsTTT:p.Glu409fs	coding	Pathogenic
13	32332705	GA	G	A32332709T	BRCA2	NM_000059.3(BRCA2):c.1231del:p.Ile411fs	coding	Pathogenic
13	32332710	TACCCCTATTG	ACAT	T32332710A	BRCA2	NM_000059.3(BRCA2):c.1232_1242delinsACAT:p.Ile411fs	coding	Pathogenic
13	32332710	TA	T	A32332711C	BRCA2	NM_000059.4(BRCA2):c.1233del:p.Leu413fs	coding	Pathogenic/Likely_pathogenic
13	32332710	T	TA	C32332712A	BRCA2	NM_000059.3(BRCA2):c.1233dupA:p.Pro412Thrfs	coding	Pathogenic
13	32332711	AC	A	C32332715T	BRCA2	NM_000059.3(BRCA2):c.1237del:p.Leu413fs	coding	Pathogenic
13	32332715	CT	C	T32332716A	BRCA2	NM_000059.3(BRCA2):c.1238del:p.Leu413fs	coding	Pathogenic
13	32332721	C	CCAAT	A32332722C	BRCA2	NM_000059.4(BRCA2):c.1243_1244insCAAT:p.His415fs	coding	Pathogenic
13	32332724	AT	A	T32332727C	BRCA2	NM_000059.3(BRCA2):c.1249del:p.Ser417fs	coding	Pathogenic
13	32332734	GT	G	T32332735G	BRCA2	NM_000059.3(BRCA2):c.1257del:p.Cys419fs	coding	Pathogenic
13	32332739	CA	C	A32332743T	BRCA2	NM_000059.3(BRCA2):c.1265del:p.Asn422fs	coding	Pathogenic
13	32332749	CAG	C	G32332751A	BRCA2	NM_000059.4(BRCA2):c.1273_1274del:p.Glu425fs	coding	Pathogenic
13	32332751	GA	G	A32332756G	BRCA2	NM_000059.3(BRCA2):c.1278del:p.Asp427fs	coding	Pathogenic
13	32332751	G	GA	G32332757A	BRCA2	NM_000059.4(BRCA2):c.1278dup:p.Asp427fs	coding	Pathogenic
13	32332762	A	ATT	A32332765T	BRCA2	NM_000059.3(BRCA2):c.1285_1286dup:p.Leu429fs	coding	Pathogenic
13	32332764	T	TA	G32332766A	BRCA2	NM_000059.3(BRCA2):c.1287dup:p.Asp430fs	coding	Pathogenic
13	32332765	AG	A	G32332766A	BRCA2	NM_000059.4(BRCA2):c.1288del:p.Asp430fs	coding	Pathogenic
13	32332766	GAC	G	C32332770G	BRCA2	NM_000059.3(BRCA2):c.1290_1291CA[1]:p.Thr431fs	coding	Pathogenic
13	32332770	CAG	C	G32332774A	BRCA2	NM_000059.3(BRCA2):c.1294_1295GA[1]:p.Asn433fs	coding	Pathogenic
13	32332774	G	GA	C32332777A	BRCA2	NM_000059.3(BRCA2):c.1298dup:p.Asn433fs	coding	Pathogenic
13	32332777	CAAAA	C	A32332778G	BRCA2	NM_000059.3(BRCA2):c.1300_1303del:p.Lys434fs	coding	Pathogenic
13	32332777	CAAAAG	C	A32332781G	BRCA2	NM_000059.3(BRCA2):c.1303_1307del:p.Arg435fs	coding	Pathogenic
13	32332778	AAAAG	A	A32332788T	BRCA2	NM_000059.3(BRCA2):c.1302_1305AAGA[2]:p.Lys437fs	coding	Pathogenic
13	32332782	GAA	G	A32332784G	BRCA2	NM_000059.3(BRCA2):c.1306_1307del:p.Lys436fs	coding	Pathogenic
13	32332782	GA	G	A32332785G	BRCA2	NM_000059.3(BRCA2):c.1307del:p.Lys436fs	coding	Pathogenic
13	32332784	AAG	A	G32332786A	BRCA2	NM_000059.3(BRCA2):c.1308_1309del:p.Lys437fs	coding	Pathogenic
13	32332786	GAA	G	A32332788G	BRCA2	NM_000059.3(BRCA2):c.1310_1311del:p.Lys437fs	coding	Pathogenic
13	32332788	AAGAT	A	A32332789T	BRCA2	NM_000059.3(BRCA2):c.1311_1314del:p.Lys437fs	coding	Pathogenic
13	32332791	A	ATT	C32332796T	BRCA2	NM_000059.3(BRCA2):c.1316_1317dup:p.Leu440fs	coding	Pathogenic
13	32332791	AT	A	T32332795C	BRCA2	NM_000059.3(BRCA2):c.1317del:p.Thr441fs	coding	Pathogenic
13	32332794	T	TTC	T32332798C	BRCA2	NM_000059.3(BRCA2):c.1318_1319dup:p.Thr441fs	coding	Pathogenic
13	32332795	TCTTA	T	A32332799C	BRCA2	NM_000059.3(BRCA2):c.1321_1324del:p.Thr441fs	coding	Pathogenic
13	32332796	C	CCT	T32332797C	BRCA2	NM_000059.4(BRCA2):c.1318_1319insCT:p.Leu440fs	coding	Pathogenic
13	32332798	T	TA	C32332800A	BRCA2	NM_000059.3(BRCA2):c.1321dupA:p.Thr441Asnfs	coding	Pathogenic
13	32332806	AG	A	G32332807A	BRCA2	NM_000059.3(BRCA2):c.1329del:p.Asn444fs	coding	Pathogenic
13	32332809	A	AT	C32332812T	BRCA2	NM_000059.3(BRCA2):c.1333dup:p.Ser445fs	coding	Pathogenic
13	32332809	ATT	A	T32332810C	BRCA2	NM_000059.3(BRCA2):c.1332_1333del:p.Ser445fs	coding	Pathogenic
13	32332811	TC	T	C32332812T	BRCA2	NM_000059.3(BRCA2):c.1334del:p.Ser445fs	coding	Pathogenic
13	32332812	CTTTG	C	T32332813C	BRCA2	NM_000059.3(BRCA2):c.1335_1338del:p.Leu446fs	coding	Pathogenic
13	32332819	AC	A	C32332820G	BRCA2	NM_000059.3(BRCA2):c.1342del:p.Arg448fs	coding	Pathogenic
13	32332836	CA	C	A32332840T	BRCA2	NM_000059.3(BRCA2):c.1362del:p.Lys454fs	coding	Pathogenic
13	32332836	C	CA	T32332841A	BRCA2	NM_000059.3(BRCA2):c.1362dup:p.Ser455fs	coding	Pathogenic
13	32332842	CAG	C	G32332846A	BRCA2	NM_000059.3(BRCA2):c.1366_1367GA[1]:p.Lys457fs	coding	Pathogenic
13	32332842	C	CAG	A32332848G	BRCA2	NM_000059.3(BRCA2):c.1366_1367GA[3]:p.Lys457fs	coding	Pathogenic
13	32332846	GA	G	A32332848G	BRCA2	NM_000059.4(BRCA2):c.1370del:p.Lys457fs	coding	Pathogenic
13	32332852	AT	A	T32332854A	BRCA2	NM_000059.3(BRCA2):c.1376del:p.Pro458_Leu459insTer	coding	Pathogenic
13	32332854	TA	T	A32332857T	BRCA2	NM_000059.3(BRCA2):c.1379del:p.Asn460fs	coding	Pathogenic
13	32332862	GA	G	A32332865C	BRCA2	NM_000059.3(BRCA2):c.1387del:p.Thr463fs	coding	Pathogenic
13	32332866	CA	C	A32332867G	BRCA2	NM_000059.3(BRCA2):c.1389del:p.Val464fs	coding	Pathogenic
13	32332866	CAG	C	A32332867T	BRCA2	NM_000059.3(BRCA2):c.1389_1390del:p.Val464fs	coding	Pathogenic
13	32332868	G	GT	G32332870T	BRCA2	NM_000059.3(BRCA2):c.1391dup:p.Val465fs	coding	Pathogenic
13	32332869	TG	T	G32332871T	BRCA2	NM_000059.3(BRCA2):c.1393del:p.Val464_Val465insTer	coding	Pathogenic
13	32332876	TAAGAGAGATG	T	A32332882C	BRCA2	NM_000059.3(BRCA2):c.1404_1413del:p.Arg468fs	coding	Pathogenic
13	32332876	TAAGA	T	A32332877G	BRCA2	NM_000059.3(BRCA2):c.1399_1402del:p.Lys467fs	coding	Pathogenic
13	32332877	AAG	A	G32332883T	BRCA2	NM_000059.3(BRCA2):c.1401_1402GA[2]:p.Arg468_Asp469insTer	coding	Pathogenic
13	32332885	T	TG	A32332887G	BRCA2	NM_000059.3(BRCA2):c.1408dup:p.Glu470fs	coding	Pathogenic
13	32332905	CTCAT	C	T32332906A	BRCA2	NM_000059.3(BRCA2):c.1428_1431del:p.His477fs	coding	Pathogenic
13	32332906	TC	T	C32332907A	BRCA2	NM_000059.3(BRCA2):c.1429del:p.His477fs	coding	Pathogenic
13	32332909	TAC	T	C32332911G	BRCA2	NM_000059.3(BRCA2):c.1433_1434del:p.Thr478fs	coding	Pathogenic
13	32332910	AC	A	C32332911A	BRCA2	NM_000059.4(BRCA2):c.1433del:p.Thr478fs	coding	Pathogenic
13	32332921	TC	T	C32332922T	BRCA2	NM_000059.3(BRCA2):c.1444del:p.Ala483fs	coding	Pathogenic
13	32332924	T	TG	C32332926G	BRCA2	NM_000059.3(BRCA2):c.1447dup:p.Ala483fs	coding	Pathogenic
13	32332925	G	GCAGT	A32332930C	BRCA2	NM_000059.3(BRCA2):c.1448_1451dup:p.Lys485fs	coding	Pathogenic
13	32332927	AGT	TTAC	A32332927T	BRCA2	NM_000059.3(BRCA2):c.1449_1451delinsTTAC:p.Val484fs	coding	Pathogenic
13	32332927	AGT	TTCC	A32332927T	BRCA2	NM_000059.3(BRCA2):c.1449_1451delinsTTCC:p.Val484fs	coding	Pathogenic
13	32332929	TA	T	A32332932G	BRCA2	NM_000059.3(BRCA2):c.1454del:p.Lys485fs	coding	Pathogenic
13	32332932	A	TGTATT	A32332932T	BRCA2	NM_000059.4(BRCA2):c.1454delinsTGTATT:p.Lys485fs	coding	Pathogenic
13	32332934	CA	C	A32332935G	BRCA2	NM_000059.4(BRCA2):c.1457del:p.Gln486fs	coding	Pathogenic
13	32332942	AT	A	T32332943C	BRCA2	NM_000059.4(BRCA2):c.1465del:p.Ser489fs	coding	Pathogenic
13	32332944	CTG	C	T32332945G	BRCA2	NM_000059.4(BRCA2):c.1467_1468del:p.Gly490fs	coding	Pathogenic
13	32332958	GTGGCT	G	G32332960C	BRCA2	NM_000059.3(BRCA2):c.1482_1486del:p.Ala495fs	coding	Pathogenic
13	32332961	G	GC	T32332963C	BRCA2	NM_000059.3(BRCA2):c.1484dup:p.Ser496fs	coding	Pathogenic
13	32332973	CAG	C	A32332974G	BRCA2	NM_000059.3(BRCA2):c.1496_1497del:p.Gln499fs	coding	Pathogenic
13	32332974	AG	A	G32332977T	BRCA2	NM_000059.3(BRCA2):c.1499del:p.Gly500fs	coding	Pathogenic
13	32332979	ATCAAAAAG	A	A32332982T	BRCA2	NM_000059.3(BRCA2):c.1504_1511del:p.Lys502fs	coding	Pathogenic
13	32332981	CAA	C	A32332985G	BRCA2	NM_000059.3(BRCA2):c.1507_1508del:p.Lys503fs	coding	Pathogenic
13	32332981	CA	C	A32332986G	BRCA2	NM_000059.3(BRCA2):c.1508del:p.Lys503fs	coding	Pathogenic
13	32332987	GTC	G	C32332989A	BRCA2	NM_000059.3(BRCA2):c.1511_1512del:p.Ser504fs	coding	Pathogenic
13	32332988	TC	T	C32332989T	BRCA2	NM_000059.3(BRCA2):c.1511del:p.Ser504fs	coding	Pathogenic
13	32332991	AT	A	T32332992A	BRCA2	NM_000059.3(BRCA2):c.1514del:p.Ile505fs	coding	Pathogenic
13	32333002	AAG	A	G32333006A	BRCA2	NM_000059.3(BRCA2):c.1526_1527GA[1]:p.Glu510fs	coding	Pathogenic
13	32333013	C	CTA	A32333016T	BRCA2	NM_000059.3(BRCA2):c.1536_1537dup:p.Lys513fs	coding	Pathogenic
13	32333014	TAAAG	T	A32333016G	BRCA2	NM_000059.3(BRCA2):c.1538_1541del:p.Lys513fs	coding	Pathogenic
13	32333014	TA	T	A32333017G	BRCA2	NM_000059.3(BRCA2):c.1539del:p.Glu514fs	coding	Pathogenic
13	32333017	A	AG	A32333019G	BRCA2	NM_000059.3(BRCA2):c.1540dup:p.Glu514fs	coding	Pathogenic
13	32333019	A	AG	A32333021G	BRCA2	NM_000059.3(BRCA2):c.1542dup:p.Thr515fs	coding	Pathogenic
13	32333022	CT	C	T32333025C	BRCA2	NM_000059.3(BRCA2):c.1547del:p.Phe516fs	coding	Pathogenic
13	32333025	TC	T	C32333026A	BRCA2	NM_000059.3(BRCA2):c.1548del:p.Phe516fs	coding	Pathogenic
13	32333026	CA	C	A32333028T	BRCA2	NM_000059.3(BRCA2):c.1550del:p.Asn517fs	coding	Pathogenic
13	32333029	TG	T	G32333030C	BRCA2	NM_000059.3(BRCA2):c.1552del:p.Ala518fs	coding	Pathogenic
13	32333034	G	GT	C32333040T	BRCA2	NM_000059.4(BRCA2):c.1561dup:p.Ser521fs	coding	Pathogenic
13	32333034	GTT	G	T32333038C	BRCA2	NM_000059.3(BRCA2):c.1560_1561del:p.Ser521fs	coding	Pathogenic
13	32333045	CAT	C	A32333048G	BRCA2	NM_000059.3(BRCA2):c.1568_1569AT[1]:p.Met524fs	coding	Pathogenic
13	32333045	C	CAT	G32333050A	BRCA2	NM_000059.4(BRCA2):c.1568_1569AT[3]:p.Met524fs	coding	Pathogenic
13	32333049	TG	T	G32333050A	BRCA2	NM_000059.3(BRCA2):c.1572del:p.Met524fs	coding	Pathogenic
13	32333050	G	GCC	A32333051C	BRCA2	NM_000059.3(BRCA2):c.1572_1573insCC:p.Thr525fs	coding	Pathogenic
13	32333062	C	CA	T32333063A	BRCA2	NM_000059.3(BRCA2):c.1584_1585insA:p.Phe529fs	coding	Pathogenic
13	32333063	T	TA	T32333064A	BRCA2	NM_000059.4(BRCA2):c.1585_1586insA:p.Phe529fs	coding	Pathogenic
13	32333064	TTAAA	T	T32333065A	BRCA2	NM_000059.3(BRCA2):c.1587_1590del:p.Phe529fs	coding	Pathogenic
13	32333065	TA	T	A32333071G	BRCA2	NM_000059.3(BRCA2):c.1593del:p.Glu532fs	coding	Pathogenic
13	32333065	T	CA	T32333065C	BRCA2	NM_000059.3(BRCA2):c.1587delinsCA:p.Glu532fs	coding	Pathogenic
13	32333065	T	TA	G32333072A	BRCA2	NM_000059.3(BRCA2):c.1593dupA:p.Glu532Argfs	coding	Pathogenic
13	32333070	AAG	A	G32333072A	BRCA2	NM_000059.3(BRCA2):c.1594_1595del:p.Glu532fs	coding	Pathogenic
13	32333072	GAAACT	G	A32333073G	BRCA2	NM_000059.3(BRCA2):c.1595_1599del:p.Glu532fs	coding	Pathogenic
13	32333072	GAA	G	A32333074C	BRCA2	NM_000059.3(BRCA2):c.1596_1597del:p.Glu532fs	coding	Pathogenic
13	32333072	GA	G	A32333075C	BRCA2	NM_000059.3(BRCA2):c.1597del:p.Thr533fs	coding	Pathogenic
13	32333076	CTG	C	T32333077A	BRCA2	NM_000059.3(BRCA2):c.1599_1600del:p.Glu534fs	coding	Pathogenic
13	32333085	C	CT	G32333087T	BRCA2	NM_000059.3(BRCA2):c.1608dup:p.Glu537Ter	coding	Pathogenic
13	32333085	CTG	C	T32333086A	BRCA2	NM_000059.3(BRCA2):c.1608_1609del:p.Glu537fs	coding	Pathogenic
13	32333089	AAG	A	A32333090T	BRCA2	NM_000059.3(BRCA2):c.1612_1613del:p.Ser538fs	coding	Pathogenic
13	32333094	GA	G	A32333095C	BRCA2	NM_000059.3(BRCA2):c.1617del:p.Leu540fs	coding	Pathogenic
13	32333106	ATACTGTTTGCTCACAGAAGGAGGACTC	TTATGTCCAAATTTAATTGATAATGTCCAAATTTAATTGATAATGGAAGTA	A32333106T	BRCA2	NM_000059.4(BRCA2):c.1628_1655delinsTTATGTCCAAATTTAATTGATAATGTCCAAATTTAATTGATAATGGAAGTA:p.His543_Ser552delinsLeuMetSerLysPheAsnTer	coding	Pathogenic
13	32333108	ACT	A	C32333109G	BRCA2	NM_000059.3(BRCA2):c.1631_1632del:p.Thr544fs	coding	Pathogenic
13	32333111	GT	G	T32333114G	BRCA2	NM_000059.3(BRCA2):c.1636del:p.Cys546fs	coding	Pathogenic
13	32333121	AGAAG	A	A32333124G	BRCA2	NM_000059.3(BRCA2):c.1646_1649del:p.Lys549fs	coding	Pathogenic
13	32333124	A	AG	A32333127G	BRCA2	NM_000059.3(BRCA2):c.1648dup:p.Glu550fs	coding	Pathogenic
13	32333131	CT	C	T32333132C	BRCA2	NM_000059.3(BRCA2):c.1654del:p.Ser552fs	coding	Pathogenic
13	32333142	CA	C	A32333145T	BRCA2	NM_000059.3(BRCA2):c.1667del:p.Asn556fs	coding	Pathogenic
13	32333146	TTTAA	T	A32333149G	BRCA2	NM_000059.3(BRCA2):c.1671_1674del:p.Asp559fs	coding	Pathogenic
13	32333146	TTTA	ATT	T32333146A	BRCA2	NM_000059.3(BRCA2):c.1668_1671delinsATT:p.Asn556fs	coding	Pathogenic
13	32333147	TTAATTGATAATGGA	T	T32333148A	BRCA2	NM_000059.3(BRCA2):c.1670_1683del:p.Asn556_Leu557insTer	coding	Pathogenic
13	32333147	TTAATTGA	T	T32333152G	BRCA2	NM_000059.3(BRCA2):c.1674_1680del:p.Ile558fs	coding	Pathogenic
13	32333148	TA	T	A32333150T	BRCA2	NM_000059.3(BRCA2):c.1672del:p.Ile558fs	coding	Pathogenic
13	32333150	ATTGAT	A	T32333151A	BRCA2	NM_000059.3(BRCA2):c.1673_1677del:p.Ile558fs	coding	Pathogenic
13	32333152	TG	T	G32333153A	BRCA2	NM_000059.3(BRCA2):c.1675del:p.Asp559fs	coding	Pathogenic
13	32333165	TG	T	G32333167C	BRCA2	NM_000059.3(BRCA2):c.1689del:p.Trp563fs	coding	Pathogenic
13	32333166	GGCCA	G	G32333171C	BRCA2	NM_000059.3(BRCA2):c.1689_1692GCCA[1]:p.Ala565fs	coding	Pathogenic
13	32333173	CA	C	A32333174C	BRCA2	NM_000059.3(BRCA2):c.1696del:p.Thr566fs	coding	Pathogenic
13	32333178	CCA	C	C32333183G	BRCA2	NM_000059.3(BRCA2):c.1701_1702CA[2]:p.Gln569fs	coding	Pathogenic
13	32333181	C	CG	A32333182G	BRCA2	NM_000059.3(BRCA2):c.1703_1704insG:p.Gln569fs	coding	Pathogenic
13	32333182	A	AG	C32333183G	BRCA2	NM_000059.3(BRCA2):c.1704_1705insG:p.Gln569fs	coding	Pathogenic
13	32333182	AC	A	C32333183A	BRCA2	NM_000059.3(BRCA2):c.1705del:p.Gln569fs	coding	Pathogenic
13	32333183	CAG	C	G32333185A	BRCA2	NM_000059.3(BRCA2):c.1707_1708del:p.Asn570fs	coding	Pathogenic
13	32333187	ATTCTG	A	T32333189A	BRCA2	NM_000059.3(BRCA2):c.1711_1715del:p.Val572fs	coding	Pathogenic
13	32333209	AG	A	G32333211T	BRCA2	NM_000059.3(BRCA2):c.1733del:p.Gly578fs	coding	Pathogenic
13	32333214	TAATATCCACTTTGAAA	T	T32333217G	BRCA2	NM_000059.3(BRCA2):c.1739_1754del:p.Ile580fs	coding	Pathogenic
13	32333223	CT	C	T32333226G	BRCA2	NM_000059.3(BRCA2):c.1748del:p.Thr582_Leu583insTer	coding	Pathogenic
13	32333227	GA	G	A32333232G	BRCA2	NM_000059.3(BRCA2):c.1754del:p.Lys585fs	coding	Pathogenic
13	32333227	G	GA	G32333233A	BRCA2	NM_000059.3(BRCA2):c.1754dup:p.Lys586fs	coding	Pathogenic
13	32333228	AAAAAG	A	G32333233C	BRCA2	NM_000059.3(BRCA2):c.1755_1759del:p.Lys585fs	coding	Pathogenic
13	32333233	GAA	G	A32333236C	BRCA2	NM_000059.3(BRCA2):c.1758_1759del:p.Lys586fs	coding	Pathogenic
13	32333237	AC	A	C32333238A	BRCA2	NM_000059.3(BRCA2):c.1760del:p.Thr587fs	coding	Pathogenic
13	32333238	CAAATA	C	A32333240G	BRCA2	NM_000059.3(BRCA2):c.1762_1766del:p.Asn588fs	coding	Pathogenic
13	32333238	CAAAT	C	A32333241G	BRCA2	NM_000059.3(BRCA2):c.1763_1766del:p.Asn588fs	coding	Pathogenic
13	32333242	TAA	T	A32333243G	BRCA2	NM_000059.3(BRCA2):c.1765_1766del:p.Lys589fs	coding	Pathogenic
13	32333243	AAGTT	A	A32333244T	BRCA2	NM_000059.4(BRCA2):c.1766_1769del:p.Lys589fs	coding	Pathogenic
13	32333244	AGTTT	A	G32333245A	BRCA2	NM_000059.4(BRCA2):c.1767_1770del:p.Ile591fs	coding	Pathogenic
13	32333245	GTTTA	G	T32333251G	BRCA2	NM_000059.3(BRCA2):c.1769_1772TTAT[1]:p.Ile591fs	coding	Pathogenic
13	32333249	AT	A	T32333252A	BRCA2	NM_000059.3(BRCA2):c.1774del:p.Tyr592fs	coding	Pathogenic
13	32333251	TTATG	T	T32333252C	BRCA2	NM_000059.3(BRCA2):c.1774_1777del:p.Tyr592fs	coding	Pathogenic
13	32333259	TACATGATGAA	T	G32333264C	BRCA2	NM_000059.3(BRCA2):c.1786_1795del:p.Asp596fs	coding	Pathogenic
13	32333261	CATGATGAAACATCTTATAA	C	T32333263G	BRCA2	NM_000059.3(BRCA2):c.1785_1803del:p.His595fs	coding	Pathogenic
13	32333264	GATGAAACATCTTA	G	A32333265T	BRCA2	NM_000059.3(BRCA2):c.1787_1799del:p.Asp596fs	coding	Pathogenic
13	32333267	GA	G	A32333270C	BRCA2	NM_000059.3(BRCA2):c.1792del:p.Thr598fs	coding	Pathogenic
13	32333267	G	GA	C32333271A	BRCA2	NM_000059.3(BRCA2):c.1792dup:p.Thr598fs	coding	Pathogenic
13	32333271	CATCTT	C	C32333274A	BRCA2	NM_000059.3(BRCA2):c.1796_1800del:p.Thr598_Ser599insTer	coding	Pathogenic
13	32333271	C	CATCT	T32333276A	BRCA2	NM_000059.4(BRCA2):c.1794_1797dup:p.Tyr600fs	coding	Pathogenic
13	32333274	CTTATA	C	T32333275A	BRCA2	NM_000059.3(BRCA2):c.1797_1801del:p.Tyr600fs	coding	Pathogenic
13	32333275	TTATAA	T	T32333276A	BRCA2	NM_000059.3(BRCA2):c.1798_1802del:p.Tyr600fs	coding	Pathogenic
13	32333275	TTA	T	T32333278A	BRCA2	NM_000059.3(BRCA2):c.1798_1799TA[1]:p.Tyr600_Lys601delinsTer	coding	Pathogenic
13	32333281	AG	A	G32333283A	BRCA2	NM_000059.3(BRCA2):c.1805del:p.Gly602fs	coding	Pathogenic
13	32333283	GA	G	A32333291T	BRCA2	NM_000059.3(BRCA2):c.1813del:p.Ile605fs	coding	Pathogenic
13	32333283	G	GA	T32333292A	BRCA2	NM_000059.3(BRCA2):c.1813dupA:p.Ile605Asnfs	coding	Pathogenic
13	32333289	AA	G	A32333289G	BRCA2	NM_000059.3(BRCA2):c.1811_1812delinsG:p.Lys604fs	coding	Pathogenic
13	32333290	A	AC	A32333291C	BRCA2	NM_000059.3(BRCA2):c.1812_1813insC:p.Ile605fs	coding	Pathogenic
13	32333292	T	TA	C32333294A	BRCA2	NM_000059.3(BRCA2):c.1815dupA:p.Pro606Thrfs	coding	Pathogenic
13	32333295	CGA	TTT	C32333295T	BRCA2	NM_000059.3(BRCA2):c.1817_1819delinsTTT:p.Pro606_Lys607delinsLeuTer	coding	Pathogenic
13	32333296	G	GA	G32333300A	BRCA2	NM_000059.3(BRCA2):c.1821dup:p.Asp608fs	coding	Pathogenic
13	32333308	AT	A	T32333309C	BRCA2	NM_000059.3(BRCA2):c.1831del:p.Ser611fs	coding	Pathogenic
13	32333309	TCAGAACTAATT	ATCAG	T32333309A	BRCA2	NM_000059.3(BRCA2):c.1831_1842delinsATCAG:p.Ser611fs	coding	Pathogenic
13	32333310	CA	C	A32333311G	BRCA2	NM_000059.3(BRCA2):c.1833del:p.Glu612fs	coding	Pathogenic
13	32333315	CTAAT	C	T32333319C	BRCA2	NM_000059.3(BRCA2):c.1841_1844del:p.Ile614fs	coding	Pathogenic
13	32333316	T	TA	T32333319A	BRCA2	NM_000059.3(BRCA2):c.1840dup:p.Ile614fs	coding	Pathogenic
13	32333318	A	AT	A32333321T	BRCA2	NM_000059.3(BRCA2):c.1842dupT:p.Asn615Terfs	coding	Pathogenic
13	32333320	TA	T	A32333322C	BRCA2	NM_000059.3(BRCA2):c.1844del:p.Asn615fs	coding	Pathogenic
13	32333322	ACT	A	C32333323G	BRCA2	NM_000059.3(BRCA2):c.1845_1846del:p.Asn615fs	coding	Pathogenic
13	32333323	CT	C	T32333324G	BRCA2	NM_000059.3(BRCA2):c.1846del:p.Cys616fs	coding	Pathogenic/Likely_pathogenic
13	32333328	C	CA	G32333330A	BRCA2	NM_000059.3(BRCA2):c.1851dup:p.Ala618fs	coding	Pathogenic
13	32333330	GC	G	C32333333A	BRCA2	NM_000059.3(BRCA2):c.1855del:p.Gln619fs	coding	Pathogenic
13	32333330	G	GC	A32333334C	BRCA2	NM_000059.3(BRCA2):c.1855dup:p.Gln619fs	coding	Pathogenic
13	32333331	C	CA	C32333332A	BRCA2	NM_000059.3(BRCA2):c.1853_1854insA:p.Gln619fs	coding	Pathogenic
13	32333332	C	AA	C32333332A	BRCA2	NM_000059.3(BRCA2):c.1854delinsAA:p.Gln619fs	coding	Pathogenic
13	32333332	C	CA	C32333333A	BRCA2	NM_000059.3(BRCA2):c.1854_1855insA:p.Gln619fs	coding	Pathogenic
13	32333342	GC	TA	G32333342T	BRCA2	NM_000059.4(BRCA2):c.1864_1865delinsTA:p.Ala622Ter	coding	Pathogenic
13	32333358	CA	C	A32333359C	BRCA2	NM_000059.3(BRCA2):c.1881del:p.Pro628fs	coding	Pathogenic
13	32333363	CTTACATT	C	T32333365G	BRCA2	NM_000059.3(BRCA2):c.1887_1893del:p.Thr630fs	coding	Pathogenic
13	32333365	TA	T	A32333366C	BRCA2	NM_000059.3(BRCA2):c.1888del:p.Thr630fs	coding	Pathogenic
13	32333365	T	TAA	C32333367A	BRCA2	NM_000059.3(BRCA2):c.1888_1889insAA:p.Thr630fs	coding	Pathogenic
13	32333365	T	TA	C32333367A	BRCA2	NM_000059.3(BRCA2):c.1888dupA:p.Thr630Asnfs	coding	Pathogenic
13	32333365	T	TAC	T32333369C	BRCA2	NM_000059.3(BRCA2):c.1889_1890dup:p.Phe631fs	coding	Pathogenic
13	32333365	T	TAG	C32333367G	BRCA2	NM_000059.4(BRCA2):c.1888_1889insGA:p.Thr630fs	coding	Pathogenic
13	32333366	AC	A	C32333367A	BRCA2	NM_000059.3(BRCA2):c.1889del:p.Thr630fs	coding	Pathogenic
13	32333367	CA	GGG	C32333367G	BRCA2	NM_000059.3(BRCA2):c.1889_1890delinsGGG:p.Thr630fs	coding	Pathogenic
13	32333376	A	ATT	G32333378T	BRCA2	NM_000059.3(BRCA2):c.1899_1900insTT:p.Ala634fs	coding	Pathogenic
13	32333378	GC	G	C32333379T	BRCA2	NM_000059.3(BRCA2):c.1901del:p.Ala634fs	coding	Pathogenic
13	32333378	G	GTT	C32333379T	BRCA2	NM_000059.3(BRCA2):c.1900_1901insTT:p.Ala634fs	coding	Pathogenic
13	32333382	AT	A	T32333384C	BRCA2	NM_000059.3(BRCA2):c.1906del:p.Ser636fs	coding	Pathogenic
13	32333382	ATTCAG	A	T32333383G	BRCA2	NM_000059.3(BRCA2):c.1905_1909del:p.Asp635fs	coding	Pathogenic
13	32333398	C	CT	G32333410T	BRCA2	NM_000059.3(BRCA2):c.1909+22dup	noncoding	Benign/Likely_benign
13	32333398	C	CTT	G32333410T	BRCA2	NM_000059.3(BRCA2):c.1909+21_1909+22dup	noncoding	Benign
13	32333478	ATATCT	A	C32333482A	BRCA2	NM_000059.3(BRCA2):c.1909+95_1909+99del	noncoding	Benign
13	32334687	AG	A	G32334688A	BRCA2	NM_000059.3(BRCA2):c.1909+1301del	noncoding	Benign
13	32335140	TCAAG	T	C32335141A	BRCA2	NM_000059.3(BRCA2):c.1910-1124_1910-1121del	noncoding	Benign
13	32335828	GA	G	A32335829C	BRCA2	NM_000059.3(BRCA2):c.1910-436del	noncoding	Benign
13	32336277	C	CAT	T32336278A	BRCA2	NM_000059.3(BRCA2):c.1922_1923insAT:p.Ser642fs	coding	Pathogenic
13	32336277	C	CTA	T32336279A	BRCA2	NM_000059.3(BRCA2):c.1923_1924insAT:p.Ser642fs	coding	Pathogenic
13	32336279	TC	T	C32336280T	BRCA2	NM_000059.3(BRCA2):c.1925del:p.Ser642fs	coding	Pathogenic
13	32336283	TG	T	G32336284A	BRCA2	NM_000059.3(BRCA2):c.1929del:p.Arg645fs	coding	Pathogenic
13	32336284	GA	G	A32336288G	BRCA2	NM_000059.3(BRCA2):c.1933del:p.Arg645fs	coding	Pathogenic
13	32336295	GTTC	TTTA	G32336295T	BRCA2	NM_000059.3(BRCA2):c.1940_1943delinsTTTA:p.Cys647_Ser648delinsPheTer	coding	Pathogenic
13	32336297	TC	T	C32336298A	BRCA2	NM_000059.3(BRCA2):c.1943del:p.Ser648fs	coding	Pathogenic
13	32336311	TGAAGAACCAA	T	G32336312C	BRCA2	NM_000059.4(BRCA2):c.1957_1966del:p.Glu653fs	coding	Pathogenic
13	32336313	AAGAACC	TG	A32336313T	BRCA2	NM_000059.3(BRCA2):c.1958_1964delinsTG:p.Glu653fs	coding	Pathogenic
13	32336317	AC	A	C32336319A	BRCA2	NM_000059.3(BRCA2):c.1964del:p.Pro655fs	coding	Pathogenic
13	32336333	A	ACTAG	C32336340A	BRCA2	NM_000059.3(BRCA2):c.1981_1984dup:p.Ser662Ter	coding	Pathogenic
13	32336336	AG	A	G32336337C	BRCA2	NM_000059.3(BRCA2):c.1982del:p.Ser661fs	coding	Pathogenic
13	32336340	CT	C	T32336344G	BRCA2	NM_000059.3(BRCA2):c.1989del:p.Phe663fs	coding	Pathogenic
13	32336344	TG	T	G32336347A	BRCA2	NM_000059.3(BRCA2):c.1992del:p.Thr665fs	coding	Pathogenic
13	32336375	GA	G	A32336378C	BRCA2	NM_000059.3(BRCA2):c.2023del:p.Thr675fs	coding	Pathogenic
13	32336379	CA	C	A32336380T	BRCA2	NM_000059.3(BRCA2):c.2025del:p.Cys676fs	coding	Pathogenic
13	32336379	CAT	C	A32336380G	BRCA2	NM_000059.3(BRCA2):c.2025_2026del:p.Cys676fs	coding	Pathogenic
13	32336380	AT	A	T32336381G	BRCA2	NM_000059.3(BRCA2):c.2026del:p.Cys676fs	coding	Pathogenic
13	32336387	AATAAT	A	T32336389C	BRCA2	NM_000059.3(BRCA2):c.2034_2038del:p.Asn679fs	coding	Pathogenic
13	32336389	TA	T	A32336391T	BRCA2	NM_000059.3(BRCA2):c.2036del:p.Asn679fs	coding	Pathogenic
13	32336399	AT	A	T32336400C	BRCA2	NM_000059.3(BRCA2):c.2045del:p.Ile682fs	coding	Pathogenic
13	32336399	ATC	A	T32336404A	BRCA2	NM_000059.3(BRCA2):c.2045_2046TC[2]:p.Gln684fs	coding	Pathogenic
13	32336399	ATCTC	A	T32336402A	BRCA2	NM_000059.3(BRCA2):c.2045_2046TC[1]:p.Ser683fs	coding	Pathogenic
13	32336413	TGATTA	T	G32336414T	BRCA2	NM_000059.3(BRCA2):c.2059_2063del:p.Leu686_Asp687insTer	coding	Pathogenic
13	32336437	TAAGGA	T	G32336440A	BRCA2	NM_000059.3(BRCA2):c.2085_2089del:p.Glu696fs	coding	Pathogenic
13	32336441	GA	G	A32336446C	BRCA2	NM_000059.4(BRCA2):c.2091del:p.Lys697fs	coding	Pathogenic
13	32336441	G	GA	C32336447A	BRCA2	NM_000059.3(BRCA2):c.2091dup:p.Leu698fs	coding	Pathogenic
13	32336446	AC	A	C32336447T	BRCA2	NM_000059.3(BRCA2):c.2092del:p.Leu698fs	coding	Pathogenic
13	32336448	TAC	T	C32336450G	BRCA2	NM_000059.3(BRCA2):c.2095_2096del:p.Gln699fs	coding	Pathogenic
13	32336448	TA	T	A32336449C	BRCA2	NM_000059.3(BRCA2):c.2094del:p.Gln699fs	coding	Pathogenic
13	32336452	GTTAT	G	T32336458A	BRCA2	NM_000059.3(BRCA2):c.2099_2102TATT[1]:p.Phe701fs	coding	Pathogenic
13	32336453	TTATTTATTACCCCAGAAGC	GCA	T32336453G	BRCA2	NM_000059.3(BRCA2):c.2098_2117delinsGCA:p.Leu700fs	coding	Pathogenic
13	32336459	ATT	A	T32336460A	BRCA2	NM_000059.3(BRCA2):c.2105_2106del:p.Ile702fs	coding	Pathogenic
13	32336462	AC	A	C32336466A	BRCA2	NM_000059.3(BRCA2):c.2111del:p.Pro704fs	coding	Pathogenic
13	32336475	AT	A	T32336477C	BRCA2	NM_000059.3(BRCA2):c.2122del:p.Ser708fs	coding	Pathogenic
13	32336476	TTC	T	C32336480G	BRCA2	NM_000059.3(BRCA2):c.2123_2124CT[1]:p.Leu709fs	coding	Pathogenic
13	32336501	CA	C	A32336502G	BRCA2	NM_000059.3(BRCA2):c.2147del:p.Gln716fs	coding	Pathogenic
13	32336501	C	CA	G32336503A	BRCA2	NM_000059.3(BRCA2):c.2147dup:p.Cys717fs	coding	Pathogenic
13	32336502	AGT	A	T32336506A	BRCA2	NM_000059.3(BRCA2):c.2149_2150TG[1]:p.Cys717_Glu718delinsTer	coding	Pathogenic
13	32336504	TG	T	G32336505T	BRCA2	NM_000059.3(BRCA2):c.2150del:p.Cys717fs	coding	Pathogenic
13	32336509	AAATG	A	A32336511T	BRCA2	NM_000059.3(BRCA2):c.2156_2159del:p.Asn719fs	coding	Pathogenic
13	32336515	T	CAGGAA	T32336515C	BRCA2	NM_000059.4(BRCA2):c.2160delinsCAGGAA:p.Pro721fs	coding	Pathogenic
13	32336524	CA	C	A32336530G	BRCA2	NM_000059.4(BRCA2):c.2175del:p.Val726fs	coding	Pathogenic
13	32336524	C	CA	G32336531A	BRCA2	NM_000059.3(BRCA2):c.2175dup:p.Val726fs	coding	Pathogenic
13	32336530	AG	A	G32336531T	BRCA2	NM_000059.3(BRCA2):c.2176del:p.Val726fs	coding	Pathogenic/Likely_pathogenic
13	32336544	AAGAAG	A	A32336547G	BRCA2	NM_000059.3(BRCA2):c.2192_2196del:p.Glu731fs	coding	Pathogenic
13	32336550	AG	A	G32336552T	BRCA2	NM_000059.3(BRCA2):c.2197del:p.Val733fs	coding	Pathogenic
13	32336552	G	GAAAAGAAGAGGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGAGACCATCCTGGCTANNNNNNNNNNNNNNNNNNNNAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	T32336553A	BRCA2	NM_000059.4(BRCA2):c.2197_2198insAAAAGAAGAGGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGAGACCATCCTGGCTANNNNNNNNNNNNNNNNNNNNAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:p.Val733delinsGluLysLysArgAlaGlyArgGlyGlySerArgLeuTer	coding	Pathogenic
13	32336556	T	TAA	G32336557A	BRCA2	NM_000059.3(BRCA2):c.2201_2202insAA:p.Ala735fs	coding	Pathogenic
13	32336557	G	GAA	G32336558A	BRCA2	NM_000059.3(BRCA2):c.2202_2203insAA:p.Ala735fs	coding	Pathogenic
13	32336559	CT	C	T32336560G	BRCA2	NM_000059.3(BRCA2):c.2205del:p.Ala736fs	coding	Pathogenic
13	32336560	TG	T	G32336561C	BRCA2	NM_000059.3(BRCA2):c.2206del:p.Ala736fs	coding	Pathogenic
13	32336561	GCAGCATGT	G	G32336564C	BRCA2	NM_000059.3(BRCA2):c.2209_2216del:p.Ala737fs	coding	Pathogenic
13	32336562	CA	C	A32336563G	BRCA2	NM_000059.3(BRCA2):c.2208del:p.Ala737fs	coding	Pathogenic
13	32336566	A	AT	G32336568T	BRCA2	NM_000059.3(BRCA2):c.2212dup:p.Cys738fs	coding	Pathogenic
13	32336579	CA	C	A32336581C	BRCA2	NM_000059.3(BRCA2):c.2226del:p.Gln742fs	coding	Pathogenic
13	32336586	CA	C	A32336590G	BRCA2	NM_000059.3(BRCA2):c.2235del:p.Val746fs	coding	Pathogenic
13	32336597	TAC	T	C32336599G	BRCA2	NM_000059.3(BRCA2):c.2244_2245del:p.Tyr748_Ser749delinsTer	coding	Pathogenic
13	32336599	C	CATTCAAAAGTGGAATTCAAA	G32336601T	BRCA2	NM_000059.3(BRCA2):c.2245_2246insTTCAAAAGTGGAATTCAAAA:p.Ser749fs	coding	Pathogenic
13	32336599	C	CTTCAAAAGTGGAATTCAAAA	A32336600T	BRCA2	NM_000059.3(BRCA2):c.2244_2245insTTCAAAAGTGGAATTCAAAA:p.Ser749fs	coding	Pathogenic
13	32336605	TACTG	T	G32336609T	BRCA2	NM_000059.3(BRCA2):c.2254_2257del:p.Asp752fs	coding	Pathogenic
13	32336605	T	TA	C32336607A	BRCA2	NM_000059.3(BRCA2):c.2251dup:p.Thr751fs	coding	Pathogenic
13	32336607	CTG	C	T32336608A	BRCA2	NM_000059.3(BRCA2):c.2253_2254del:p.Asp752fs	coding	Pathogenic
13	32336609	G	GA	C32336611A	BRCA2	NM_000059.3(BRCA2):c.2255dup:p.Asp752fs	coding	Pathogenic
13	32336610	AC	A	C32336611T	BRCA2	NM_000059.3(BRCA2):c.2256del:p.Gln754fs	coding	Pathogenic
13	32336611	CT	C	T32336614C	BRCA2	NM_000059.3(BRCA2):c.2259del:p.Gln754fs	coding	Pathogenic
13	32336613	TTCAA	T	A32336616C	BRCA2	NM_000059.3(BRCA2):c.2261_2264del:p.Gln754fs	coding	Pathogenic
13	32336618	T	TC	A32336622C	BRCA2	NM_000059.3(BRCA2):c.2266dup:p.Gln756fs	coding	Pathogenic
13	32336623	GAA	G	A32336626G	BRCA2	NM_000059.3(BRCA2):c.2271_2272del:p.Leu759fs	coding	Pathogenic
13	32336623	GA	G	A32336627G	BRCA2	NM_000059.3(BRCA2):c.2272del:p.Ser758fs	coding	Pathogenic
13	32336627	AG	A	G32336628T	BRCA2	NM_000059.3(BRCA2):c.2273del:p.Ser758fs	coding	Pathogenic
13	32336630	CT	C	T32336634A	BRCA2	NM_000059.3(BRCA2):c.2279del:p.Leu760fs	coding	Pathogenic
13	32336630	CTT	C	T32336633A	BRCA2	NM_000059.3(BRCA2):c.2278_2279del:p.Leu760fs	coding	Pathogenic
13	32336632	TTTATA	T	T32336634G	BRCA2	NM_000059.3(BRCA2):c.2279_2283del:p.Leu759_Leu760insTer	coding	Pathogenic
13	32336633	TTA	T	A32336637G	BRCA2	NM_000059.3(BRCA2):c.2280_2281AT[1]:p.Leu760_Tyr761insTer	coding	Pathogenic
13	32336641	TC	T	C32336642A	BRCA2	NM_000059.3(BRCA2):c.2287del:p.His763fs	coding	Pathogenic
13	32336660	CTTATT	C	T32336664A	BRCA2	NM_000059.4(BRCA2):c.2309_2313del:p.Ile770fs	coding	Pathogenic
13	32336673	CT	C	T32336674A	BRCA2	NM_000059.3(BRCA2):c.2319del:p.Thr774fs	coding	Pathogenic
13	32336678	TC	T	C32336680A	BRCA2	NM_000059.3(BRCA2):c.2325del:p.Lys776fs	coding	Pathogenic
13	32336680	CA	C	A32336682G	BRCA2	NM_000059.4(BRCA2):c.2327del:p.Lys776fs	coding	Pathogenic
13	32336684	G	GA	T32336686A	BRCA2	NM_000059.3(BRCA2):c.2330dup:p.Asp777fs	coding	Pathogenic
13	32336690	CT	C	T32336691G	BRCA2	NM_000059.3(BRCA2):c.2336del:p.Leu779fs	coding	Pathogenic
13	32336718	GC	G	C32336719A	BRCA2	NM_000059.3(BRCA2):c.2364del:p.Glu790fs	coding	Pathogenic
13	32336723	GA	G	A32336725T	BRCA2	NM_000059.3(BRCA2):c.2370del:p.Glu790fs	coding	Pathogenic
13	32336731	C	CA	T32336736A	BRCA2	NM_000059.3(BRCA2):c.2380dup:p.Met794fs	coding	Pathogenic
13	32336749	CA	C	A32336752G	BRCA2	NM_000059.3(BRCA2):c.2397del:p.Gly800fs	coding	Pathogenic
13	32336751	A	AAGGTAACAATTATGAATCTGATGTTG	A32336779G	BRCA2	NM_000059.3(BRCA2):c.2398_2423dup:p.Leu809fs	coding	Pathogenic
13	32336752	A	AG	T32336755G	BRCA2	NM_000059.3(BRCA2):c.2399dup:p.Gly800_Asn801insTer	coding	Pathogenic
13	32336752	AG	A	G32336754T	BRCA2	NM_000059.4(BRCA2):c.2399del:p.Gly800fs	coding	Pathogenic
13	32336754	GTA	G	T32336755A	BRCA2	NM_000059.3(BRCA2):c.2400_2401del:p.Asn801fs	coding	Pathogenic
13	32336755	TAACAATTATGA	T	A32336757T	BRCA2	NM_000059.3(BRCA2):c.2402_2412del:p.Asn801fs	coding	Pathogenic
13	32336756	AACAATTATGAATCTGATGT	A	A32336757T	BRCA2	NM_000059.3(BRCA2):c.2402_2420del:p.Asn801fs	coding	Pathogenic
13	32336760	A	AT	A32336763T	BRCA2	NM_000059.4(BRCA2):c.2407dup:p.Tyr803fs	coding	Pathogenic
13	32336774	G	GT	G32336777T	BRCA2	NM_000059.3(BRCA2):c.2421dup:p.Glu808Ter	coding	Pathogenic
13	32336779	AT	A	T32336781A	BRCA2	NM_000059.4(BRCA2):c.2426del:p.Glu808_Leu809insTer	coding	Pathogenic
13	32336784	CCAAAAATA	C	C32336785T	BRCA2	NM_000059.3(BRCA2):c.2430_2437del:p.Lys811fs	coding	Pathogenic
13	32336785	CA	C	A32336790T	BRCA2	NM_000059.3(BRCA2):c.2435del:p.Asn812fs	coding	Pathogenic
13	32336785	C	CA	T32336791A	BRCA2	NM_000059.3(BRCA2):c.2435dup:p.Asn812fs	coding	Pathogenic
13	32336792	A	AT	C32336795T	BRCA2	NM_000059.3(BRCA2):c.2439dup:p.Pro814fs	coding	Pathogenic
13	32336794	TC	T	C32336797A	BRCA2	NM_000059.3(BRCA2):c.2442del:p.Met815fs	coding	Pathogenic
13	32336799	TG	T	G32336801A	BRCA2	NM_000059.3(BRCA2):c.2446del:p.Glu816fs	coding	Pathogenic
13	32336801	GA	G	A32336805G	BRCA2	NM_000059.3(BRCA2):c.2450del:p.Lys817fs	coding	Pathogenic
13	32336804	A	AAG	A32336808G	BRCA2	NM_000059.3(BRCA2):c.2451_2452dup:p.Asn818fs	coding	Pathogenic
13	32336806	GAATC	G	T32336809G	BRCA2	NM_000059.3(BRCA2):c.2454_2457del:p.Asn818fs	coding	Pathogenic
13	32336823	CT	C	T32336826A	BRCA2	NM_000059.3(BRCA2):c.2471del:p.Ala823_Leu824insTer	coding	Pathogenic
13	32336825	TTAAATG	T	T32336826A	BRCA2	NM_000059.3(BRCA2):c.2471_2476del:p.Leu824_Glu826delinsTer	coding	Pathogenic
13	32336826	TA	T	A32336829T	BRCA2	NM_000059.3(BRCA2):c.2474del:p.Asn825fs	coding	Pathogenic
13	32336831	G	GA	T32336836A	BRCA2	NM_000059.3(BRCA2):c.2480dup:p.Asn827fs	coding	Pathogenic
13	32336839	T	TA	C32336845A	BRCA2	NM_000059.4(BRCA2):c.2489dup:p.Asn830fs	coding	Pathogenic
13	32336844	A	AT	C32336845T	BRCA2	NM_000059.3(BRCA2):c.2489_2490insT:p.Val831fs	coding	Pathogenic
13	32336845	C	CT	G32336846T	BRCA2	NM_000059.3(BRCA2):c.2490_2491insT:p.Val831fs	coding	Pathogenic
13	32336854	GT	G	T32336856G	BRCA2	NM_000059.3(BRCA2):c.2501del:p.Leu834fs	coding	Pathogenic
13	32336863	TGAAAA	T	G32336864A	BRCA2	NM_000059.3(BRCA2):c.2509_2513del:p.Glu837fs	coding	Pathogenic
13	32336864	GA	G	A32336869T	BRCA2	NM_000059.3(BRCA2):c.2514del:p.Lys838fs	coding	Pathogenic
13	32336864	G	GA	T32336870A	BRCA2	NM_000059.3(BRCA2):c.2514dup:p.Tyr839fs	coding	Pathogenic
13	32336870	T	TA	C32336872A	BRCA2	NM_000059.4(BRCA2):c.2516dup:p.Tyr839Ter	coding	Pathogenic
13	32336880	T	TA	G32336882A	BRCA2	NM_000059.3(BRCA2):c.2526dup:p.Ala843fs	coding	Pathogenic
13	32336892	C	CA	G32336895A	BRCA2	NM_000059.3(BRCA2):c.2539dup:p.Arg847fs	coding	Pathogenic
13	32336898	AG	A	G32336900T	BRCA2	NM_000059.3(BRCA2):c.2545del:p.Val849fs	coding	Pathogenic
13	32336907	TC	T	C32336908A	BRCA2	NM_000059.3(BRCA2):c.2553del:p.Phe851fs	coding	Pathogenic
13	32336915	AAC	A	C32336919A	BRCA2	NM_000059.3(BRCA2):c.2562_2563CA[1]:p.Thr855fs	coding	Pathogenic
13	32336924	C	CT	A32336926T	BRCA2	NM_000059.3(BRCA2):c.2570dup:p.Arg858fs	coding	Pathogenic
13	32336936	C	CA	T32336944A	BRCA2	NM_000059.3(BRCA2):c.2588dupA:p.Asn863Lysfs	coding	Pathogenic
13	32336938	AAAAAATC	A	A32336941G	BRCA2	NM_000059.3(BRCA2):c.2586_2592del:p.Asn863fs	coding	Pathogenic
13	32336943	AT	A	T32336944C	BRCA2	NM_000059.3(BRCA2):c.2589del:p.Gln864fs	coding	Pathogenic
13	32336948	GAAGA	G	G32336951C	BRCA2	NM_000059.3(BRCA2):c.2596_2599del:p.Glu866fs	coding	Pathogenic
13	32336948	GA	G	A32336950G	BRCA2	NM_000059.3(BRCA2):c.2595del:p.Glu866fs	coding	Pathogenic
13	32336957	AC	A	C32336958T	BRCA2	NM_000059.3(BRCA2):c.2603del:p.Thr868fs	coding	Pathogenic
13	32336963	A	AT	C32336967T	BRCA2	NM_000059.3(BRCA2):c.2611dup:p.Ser871fs	coding	Pathogenic
13	32336967	C	CA	T32336973A	BRCA2	NM_000059.3(BRCA2):c.2617dup:p.Ile873fs	coding	Pathogenic
13	32336967	C	TTT	C32336967T	BRCA2	NM_000059.3(BRCA2):c.2612delinsTTT:p.Ser871fs	coding	Pathogenic
13	32336971	AAT	A	T32336973A	BRCA2	NM_000059.3(BRCA2):c.2618_2619del:p.Ile873fs	coding	Pathogenic
13	32336972	A	AT	A32336974T	BRCA2	NM_000059.3(BRCA2):c.2618dup:p.Thr874fs	coding	Pathogenic
13	32336976	C	CG	T32336977G	BRCA2	NM_000059.4(BRCA2):c.2621_2622insG:p.Val875fs	coding	Pathogenic
13	32336976	C	CT	G32336978T	BRCA2	NM_000059.3(BRCA2):c.2622dup:p.Val875fs	coding	Pathogenic
13	32336976	CTG	C	G32336978C	BRCA2	NM_000059.3(BRCA2):c.2623_2624del:p.Val875fs	coding	Pathogenic
13	32336988	ACT	A	C32336991G	BRCA2	NM_000059.3(BRCA2):c.2634_2635CT[1]:p.Asp878_Ser879insTer	coding	Pathogenic
13	32336991	CTG	C	T32336992A	BRCA2	NM_000059.3(BRCA2):c.2637_2638del:p.Glu880fs	coding	Pathogenic
13	32336998	AC	A	C32336999T	BRCA2	NM_000059.3(BRCA2):c.2644del:p.Leu882fs	coding	Pathogenic
13	32336999	CT	C	T32337003C	BRCA2	NM_000059.3(BRCA2):c.2648del:p.Phe883fs	coding	Pathogenic
13	32337004	CT	C	T32337005C	BRCA2	NM_000059.3(BRCA2):c.2650del:p.Ser884fs	coding	Pathogenic
13	32337005	TCAGA	T	G32337008A	BRCA2	NM_000059.3(BRCA2):c.2653_2656del:p.Asp885fs	coding	Pathogenic
13	32337008	GAC	G	C32337010A	BRCA2	NM_000059.3(BRCA2):c.2655_2656del:p.Asp885fs	coding	Pathogenic
13	32337010	CA	C	A32337012T	BRCA2	NM_000059.3(BRCA2):c.2657del:p.Asn886fs	coding	Pathogenic
13	32337012	A	ATG	A32337015T	BRCA2	NM_000059.3(BRCA2):c.2658_2659dup:p.Glu887fs	coding	Pathogenic
13	32337012	ATG	A	T32337013A	BRCA2	NM_000059.3(BRCA2):c.2658_2659del:p.Asn886fs	coding	Pathogenic
13	32337021	AT	A	T32337025G	BRCA2	NM_000059.3(BRCA2):c.2670del:p.Phe890fs	coding	Pathogenic
13	32337026	G	GT	C32337028T	BRCA2	NM_000059.4(BRCA2):c.2672dup:p.Phe892fs	coding	Pathogenic/Likely_pathogenic
13	32337030	TC	T	C32337032A	BRCA2	NM_000059.3(BRCA2):c.2677del:p.Gln893fs	coding	Pathogenic
13	32337038	GC	G	C32337039T	BRCA2	NM_000059.3(BRCA2):c.2684del:p.Ala895fs	coding	Pathogenic
13	32337043	TGAAAG	T	A32337047T	BRCA2	NM_000059.3(BRCA2):c.2692_2696del:p.Glu897_Arg898insTer	coding	Pathogenic
13	32337055	TC	T	C32337056T	BRCA2	NM_000059.3(BRCA2):c.2701del:p.Ala902fs	coding	Pathogenic
13	32337056	CT	C	T32337058G	BRCA2	NM_000059.3(BRCA2):c.2703del:p.Ala902fs	coding	Pathogenic
13	32337070	T	TA	C32337072A	BRCA2	NM_000059.3(BRCA2):c.2716dup:p.Thr906fs	coding	Pathogenic
13	32337085	TG	T	G32337086A	BRCA2	NM_000059.3(BRCA2):c.2731del:p.Glu911fs	coding	Pathogenic
13	32337091	AGACTT	A	A32337098T	BRCA2	NM_000059.3(BRCA2):c.2738_2742ACTTG[1]:p.Thr915fs	coding	Pathogenic
13	32337099	CTT	C	T32337100G	BRCA2	NM_000059.3(BRCA2):c.2745_2746del:p.Val917fs	coding	Pathogenic
13	32337102	GT	G	T32337103G	BRCA2	NM_000059.3(BRCA2):c.2748del:p.Cys916fs	coding	Pathogenic
13	32337105	TA	T	A32337108C	BRCA2	NM_000059.3(BRCA2):c.2753del:p.Asn918fs	coding	Pathogenic
13	32337108	AC	A	C32337109G	BRCA2	NM_000059.3(BRCA2):c.2754del:p.Asn918fs	coding	Pathogenic
13	32337112	A	AATGG	C32337113A	BRCA2	NM_000059.3(BRCA2):c.2757_2758insATGG:p.Pro920fs	coding	Pathogenic
13	32337112	AC	A	C32337115A	BRCA2	NM_000059.3(BRCA2):c.2760del:p.Ile921fs	coding	Pathogenic
13	32337113	C	CATGG	C32337114A	BRCA2	NM_000059.3(BRCA2):c.2758_2759insATGG:p.Pro920fs	coding	Pathogenic
13	32337116	A	AT	C32337121T	BRCA2	NM_000059.3(BRCA2):c.2765dup:p.Lys923fs	coding	Pathogenic
13	32337118	TTTCAAGAACTCTAC	T	T32337119C	BRCA2	NM_000059.3(BRCA2):c.2764_2777del:p.Phe922fs	coding	Pathogenic
13	32337126	ACT	A	C32337129A	BRCA2	NM_000059.3(BRCA2):c.2772_2773CT[1]:p.Ser925fs	coding	Pathogenic
13	32337127	C	CT	C32337129T	BRCA2	NM_000059.3(BRCA2):c.2773dup:p.Ser925fs	coding	Pathogenic
13	32337128	TCT	GA	T32337128G	BRCA2	NM_000059.4(BRCA2):c.2773_2775delinsGA:p.Ser925fs	coding	Pathogenic
13	32337129	C	CT	A32337131T	BRCA2	NM_000059.3(BRCA2):c.2775dup:p.Thr926fs	coding	Pathogenic
13	32337129	CTACCA	C	A32337131G	BRCA2	NM_000059.4(BRCA2):c.2776_2780del:p.Thr926fs	coding	Pathogenic
13	32337129	CT	C	T32337130A	BRCA2	NM_000059.3(BRCA2):c.2775del:p.Thr926fs	coding	Pathogenic
13	32337134	ATGGTT	A	G32337136T	BRCA2	NM_000059.3(BRCA2):c.2781_2785del:p.Met927fs	coding	Pathogenic
13	32337137	G	GT	A32337142T	BRCA2	NM_000059.3(BRCA2):c.2786dupT:p.Leu929Phefs	coding	Pathogenic
13	32337137	GT	G	T32337141A	BRCA2	NM_000059.3(BRCA2):c.2786del:p.Leu929fs	coding	Pathogenic
13	32337149	GAC	G	C32337153G	BRCA2	NM_000059.3(BRCA2):c.2796_2797CA[1]:p.Thr933fs	coding	Pathogenic
13	32337152	AC	A	C32337153A	BRCA2	NM_000059.3(BRCA2):c.2798del:p.Thr933fs	coding	Pathogenic
13	32337158	GATAA	G	T32337160C	BRCA2	NM_000059.3(BRCA2):c.2805_2808del:p.Ala938fs	coding	Pathogenic
13	32337160	TAAAC	T	A32337163G	BRCA2	NM_000059.3(BRCA2):c.2808_2811del:p.Ala938Profs	coding	Pathogenic
13	32337160	TA	T	A32337163C	BRCA2	NM_000059.3(BRCA2):c.2808del:p.Lys936fs	coding	Pathogenic
13	32337163	ACAAG	A	G32337167C	BRCA2	NM_000059.3(BRCA2):c.2812_2815del:p.Ala938fs	coding	Pathogenic
13	32337164	CAA	C	A32337165G	BRCA2	NM_000059.3(BRCA2):c.2810_2811del:p.Gln937fs	coding	Pathogenic
13	32337180	CAATT	C	T32337183A	BRCA2	NM_000059.3(BRCA2):c.2828_2831del:p.Ile943fs	coding	Pathogenic
13	32337184	TAA	T	A32337189G	BRCA2	NM_000059.3(BRCA2):c.2834_2835del:p.Lys945fs	coding	Pathogenic
13	32337184	TA	T	A32337190G	BRCA2	NM_000059.3(BRCA2):c.2835del:p.Asp946fs	coding	Pathogenic
13	32337184	T	TA	G32337191A	BRCA2	NM_000059.3(BRCA2):c.2835dup:p.Asp946fs	coding	Pathogenic
13	32337187	A	ATT	A32337188T	BRCA2	NM_000059.3(BRCA2):c.2832_2833insTT:p.Lys945fs	coding	Pathogenic
13	32337188	A	ATT	A32337189T	BRCA2	NM_000059.3(BRCA2):c.2833_2834insTT:p.Lys945fs	coding	Pathogenic
13	32337189	AAG	A	G32337191T	BRCA2	NM_000059.3(BRCA2):c.2836_2837del:p.Asp946fs	coding	Pathogenic
13	32337190	AG	A	G32337191A	BRCA2	NM_000059.3(BRCA2):c.2836del:p.Asp946fs	coding	Pathogenic
13	32337192	AT	A	T32337195G	BRCA2	NM_000059.3(BRCA2):c.2840del:p.Leu947fs	coding	Pathogenic
13	32337195	T	TG	T32337198G	BRCA2	NM_000059.3(BRCA2):c.2842dup:p.Val948fs	coding	Pathogenic
13	32337197	GT	G	T32337200A	BRCA2	NM_000059.3(BRCA2):c.2845del:p.Tyr949fs	coding	Pathogenic
13	32337212	GA	G	A32337213G	BRCA2	NM_000059.3(BRCA2):c.2858del:p.Glu953fs	coding	Pathogenic
13	32337213	AG	A	G32337215A	BRCA2	NM_000059.4(BRCA2):c.2860del:p.Glu954fs	coding	Pathogenic
13	32337220	CA	C	A32337225T	BRCA2	NM_000059.3(BRCA2):c.2870del:p.Asn957fs	coding	Pathogenic
13	32337234	AG	A	G32337235C	BRCA2	NM_000059.3(BRCA2):c.2880del:p.Lys960fs	coding	Pathogenic
13	32337236	CAGCATATAAAAATGACTCTAGGTCA	C	C32337239A	BRCA2	NM_000059.3(BRCA2):c.2884_2908del:p.His962fs	coding	Pathogenic
13	32337237	AG	A	G32337238C	BRCA2	NM_000059.3(BRCA2):c.2883del:p.Gln961fs	coding	Pathogenic
13	32337239	CATATAAAAATGACTCTAGGTCAAGATTTAAAATCGGACATCTCCTTGAATATAGATAAAATACCAGAAAAAAATAATGATTACATGAACAAATGGGCAGGACTCTTAGGTCCAATTTCAAATCACAGTTTTGGAGGTAGCTTCAGAACAGCTTCAAATAAGGAAATCAAGCTCTCTGAACATAACATTAAGAAGAGCAAAATGTTCTTCAAAGATATTGAAGAACAATATCCTACTAGTTTAGCTTGTGTTGAAATTGT	C	T32337241A	BRCA2	NM_000059.4(BRCA2):c.2886_3144del:p.His962fs	coding	Pathogenic/Likely_pathogenic
13	32337240	A	AT	A32337242T	BRCA2	NM_000059.4(BRCA2):c.2886dup:p.Ile963fs	coding	Pathogenic
13	32337250	G	GA	C32337252A	BRCA2	NM_000059.3(BRCA2):c.2896dup:p.Thr966fs	coding	Pathogenic
13	32337251	ACT	A	C32337254A	BRCA2	NM_000059.3(BRCA2):c.2897_2898CT[1]:p.Leu967fs	coding	Pathogenic
13	32337278	ATC	A	T32337281C	BRCA2	NM_000059.3(BRCA2):c.2924_2925TC[1]:p.Ser976fs	coding	Pathogenic
13	32337283	CTTGAATATAGA	C	T32337285A	BRCA2	NM_000059.3(BRCA2):c.2930_2940del:p.Ser976_Leu977insTer	coding	Pathogenic
13	32337295	T	TA	T32337300A	BRCA2	NM_000059.4(BRCA2):c.2944dup:p.Ile982fs	coding	Pathogenic
13	32337299	AT	A	T32337300A	BRCA2	NM_000059.3(BRCA2):c.2945del:p.Ile982fs	coding	Pathogenic
13	32337305	GAAAA	G	A32337309T	BRCA2	NM_000059.3(BRCA2):c.2954_2957del:p.Lys985fs	coding	Pathogenic
13	32337305	GA	G	A32337312T	BRCA2	NM_000059.3(BRCA2):c.2957del:p.Asn986fs	coding	Pathogenic
13	32337305	G	GA	T32337313A	BRCA2	NM_000059.3(BRCA2):c.2957dupA:p.Asn986Lysfs	coding	Pathogenic
13	32337311	A	AG	A32337312G	BRCA2	NM_000059.3(BRCA2):c.2956_2957insG:p.Asn986fs	coding	Pathogenic
13	32337312	A	AG	T32337313G	BRCA2	NM_000059.4(BRCA2):c.2957_2958insG:p.Asn986fs	coding	Pathogenic
13	32337312	AT	A	T32337313A	BRCA2	NM_000059.3(BRCA2):c.2958del:p.Asn986fs	coding	Pathogenic
13	32337313	T	TA	T32337316A	BRCA2	NM_000059.3(BRCA2):c.2960dup:p.Asn987fs	coding	Pathogenic
13	32337315	AT	A	T32337316G	BRCA2	NM_000059.3(BRCA2):c.2961del:p.Asn987fs	coding	Pathogenic
13	32337324	TGAACAAATGGGCA	T	A32337326G	BRCA2	NM_000059.3(BRCA2):c.2971_2983del:p.Asn991fs	coding	Pathogenic
13	32337328	CA	C	A32337331T	BRCA2	NM_000059.3(BRCA2):c.2976del:p.Lys992fs	coding	Pathogenic
13	32337353	A	AT	C32337357T	BRCA2	NM_000059.3(BRCA2):c.3001dup:p.Ser1001fs	coding	Pathogenic
13	32337353	AT	A	T32337356C	BRCA2	NM_000059.3(BRCA2):c.3001del:p.Ser1001fs	coding	Pathogenic
13	32337361	TCA	T	C32337364G	BRCA2	NM_000059.3(BRCA2):c.3007_3008CA[1]:p.His1003fs	coding	Pathogenic
13	32337364	CA	C	A32337365G	BRCA2	NM_000059.3(BRCA2):c.3010del:p.Ser1004fs	coding	Pathogenic
13	32337366	G	GTT	G32337371T	BRCA2	NM_000059.3(BRCA2):c.3014_3015dup:p.Gly1006fs	coding	Pathogenic
13	32337372	GA	G	A32337373G	BRCA2	NM_000059.3(BRCA2):c.3018del:p.Gly1007fs	coding	Pathogenic
13	32337386	AC	A	C32337387A	BRCA2	NM_000059.3(BRCA2):c.3032del:p.Thr1011fs	coding	Pathogenic
13	32337390	CTTCA	C	T32337391A	BRCA2	NM_000059.3(BRCA2):c.3036_3039del:p.Ser1013fs	coding	Pathogenic
13	32337405	TC	T	C32337406A	BRCA2	NM_000059.3(BRCA2):c.3051del:p.Lys1018fs	coding	Pathogenic
13	32337409	GCT	G	C32337414G	BRCA2	NM_000059.4(BRCA2):c.3059_3060del:p.Leu1019_Ser1020insTer	coding	Pathogenic
13	32337414	CTG	C	T32337415A	BRCA2	NM_000059.3(BRCA2):c.3060_3061del:p.Glu1021fs	coding	Pathogenic
13	32337416	GAACAT	G	A32337422T	BRCA2	NM_000059.3(BRCA2):c.3062_3066AACAT[1]:p.His1022_Asn1023insTer	coding	Pathogenic
13	32337420	A	AT	A32337422T	BRCA2	NM_000059.3(BRCA2):c.3066dup:p.Asn1023Ter	coding	Pathogenic
13	32337421	TA	T	A32337423C	BRCA2	NM_000059.3(BRCA2):c.3068del:p.Asn1023fs	coding	Pathogenic
13	32337421	T	TA	C32337424A	BRCA2	NM_000059.3(BRCA2):c.3068dupA:p.Asn1023Lysfs	coding	Pathogenic
13	32337422	AACAT	A	A32337423T	BRCA2	NM_000059.3(BRCA2):c.3068_3071del:p.Asn1023fs	coding	Pathogenic
13	32337423	AC	A	C32337424A	BRCA2	NM_000059.3(BRCA2):c.3069del:p.Asn1023fs	coding	Pathogenic
13	32337429	AGAAGAGCAAAATGTTCTTCAAAGATATT	A	G32337435A	BRCA2	NM_000059.4(BRCA2):c.3080_3107del:p.Ser1027fs	coding	Pathogenic
13	32337430	GA	G	A32337432G	BRCA2	NM_000059.3(BRCA2):c.3077del:p.Lys1026fs	coding	Pathogenic
13	32337430	GA	TT	G32337430T	BRCA2	NM_000059.3(BRCA2):c.3075_3076delinsTT:p.Lys1025_Lys1026delinsAsnTer	coding	Pathogenic
13	32337440	A	AT	G32337442T	BRCA2	NM_000059.4(BRCA2):c.3086dup:p.Met1029fs	coding	Pathogenic
13	32337448	CA	C	A32337451G	BRCA2	NM_000059.3(BRCA2):c.3096del:p.Asp1033fs	coding	Pathogenic
13	32337451	AGATATTGAAGAACA	T	A32337451T	BRCA2	NM_000059.3(BRCA2):c.3096_3110delinsT:p.Lys1032fs	coding	Pathogenic
13	32337452	GAT	G	A32337455T	BRCA2	NM_000059.4(BRCA2):c.3100_3101del:p.Asp1033_Ile1034insTer	coding	Pathogenic/Likely_pathogenic
13	32337454	T	TA	T32337456A	BRCA2	NM_000059.3(BRCA2):c.3100dup:p.Ile1034fs	coding	Pathogenic
13	32337484	TTG	T	G32337488T	BRCA2	NM_000059.4(BRCA2):c.3131_3132GT[1]:p.Cys1044_Val1045insTer	coding	Pathogenic
13	32337498	TA	T	A32337501T	BRCA2	NM_000059.3(BRCA2):c.3146del:p.Asn1049fs	coding	Pathogenic
13	32337503	AC	A	C32337505T	BRCA2	NM_000059.4(BRCA2):c.3150del:p.Leu1051fs	coding	Pathogenic
13	32337505	CTTG	ATTTT	C32337505A	BRCA2	NM_000059.3(BRCA2):c.3150_3153delinsATTTT:p.Leu1051fs	coding	Pathogenic
13	32337510	CATTAGAT	C	T32337512A	BRCA2	NM_000059.4(BRCA2):c.3157_3163del:p.Leu1053fs	coding	Pathogenic
13	32337512	TTAGATAATCAA	AG	T32337512A	BRCA2	NM_000059.3(BRCA2):c.3157_3168delinsAG:p.Leu1053fs	coding	Pathogenic
13	32337512	TTAGA	T	G32337515A	BRCA2	NM_000059.3(BRCA2):c.3160_3163del:p.Asp1054fs	coding	Pathogenic
13	32337517	TAATC	T	T32337520A	BRCA2	NM_000059.3(BRCA2):c.3165_3168del:p.Asn1055fs	coding	Pathogenic
13	32337520	TCA	CC	T32337520C	BRCA2	NM_000059.3(BRCA2):c.3165_3167delinsCC:p.Lys1057fs	coding	Pathogenic
13	32337521	CAAAA	C	A32337522G	BRCA2	NM_000059.3(BRCA2):c.3167_3170del:p.Gln1056fs	coding	Pathogenic
13	32337521	CAAAAG	C	A32337525C	BRCA2	NM_000059.3(BRCA2):c.3170_3174del:p.Lys1057fs	coding	Pathogenic
13	32337521	CA	C	A32337525G	BRCA2	NM_000059.3(BRCA2):c.3170del:p.Lys1057fs	coding	Pathogenic
13	32337524	AAG	A	G32337526A	BRCA2	NM_000059.3(BRCA2):c.3171_3172del:p.Lys1058fs	coding	Pathogenic
13	32337526	G	GA	C32337530A	BRCA2	NM_000059.3(BRCA2):c.3174dup:p.Leu1059fs	coding	Pathogenic/Likely_pathogenic
13	32337529	AC	A	C32337530T	BRCA2	NM_000059.3(BRCA2):c.3175del:p.Lys1058_Leu1059insTer	coding	Pathogenic
13	32337530	CTG	C	T32337531A	BRCA2	NM_000059.3(BRCA2):c.3176_3177del:p.Leu1059fs	coding	Pathogenic
13	32337535	CA	C	A32337537G	BRCA2	NM_000059.3(BRCA2):c.3182del:p.Lys1061fs	coding	Pathogenic
13	32337540	CTCAG	C	G32337544A	BRCA2	NM_000059.3(BRCA2):c.3189_3192del:p.Ser1064fs	coding	Pathogenic
13	32337542	C	CG	A32337543G	BRCA2	NM_000059.3(BRCA2):c.3187_3188insG:p.Gln1063fs	coding	Pathogenic
13	32337546	CAATT	C	T32337550A	BRCA2	NM_000059.3(BRCA2):c.3195_3198del:p.Asn1066fs	coding	Pathogenic
13	32337548	AT	A	T32337550A	BRCA2	NM_000059.3(BRCA2):c.3195del:p.Asn1066fs	coding	Pathogenic
13	32337553	TA	T	A32337554C	BRCA2	NM_000059.3(BRCA2):c.3199del:p.Thr1067fs	coding	Pathogenic
13	32337555	CT	C	T32337556G	BRCA2	NM_000059.3(BRCA2):c.3201del:p.Val1068fs	coding	Pathogenic
13	32337556	TGTATCTGCACATTTACAGAGTAGTGTAGTTGTTTCTGATTGTAA	T	G32337557A	BRCA2	NM_000059.3(BRCA2):c.3202_3245del:p.Val1068fs	coding	Pathogenic
13	32337556	TG	T	G32337557T	BRCA2	NM_000059.3(BRCA2):c.3202del:p.Val1068fs	coding	Pathogenic
13	32337557	G	GTATAATTGCAGTCAATTAA	C32337561A	BRCA2	NM_000059.3(BRCA2):c.3205_3206insAATTGCAGTCAATTAATAT:p.Ser1069Ter	coding	Pathogenic
13	32337557	GTATC	G	A32337559G	BRCA2	NM_000059.3(BRCA2):c.3204_3207del:p.Ser1069fs	coding	Pathogenic
13	32337560	T	TTAATTGCAGTCAATTAATA	C32337561T	BRCA2	NM_000059.3(BRCA2):c.3205_3206insTAATTGCAGTCAATTAATA:p.Ser1069delinsLeuIleAlaValAsnTer	coding	Pathogenic
13	32337567	A	AT	A32337571T	BRCA2	NM_000059.4(BRCA2):c.3215dup:p.Leu1072fs	coding	Pathogenic
13	32337575	AGTAGT	A	G32337581T	BRCA2	NM_000059.3(BRCA2):c.3221_3225GTAGT[1]:p.Val1076fs	coding	Pathogenic
13	32337576	GTAGT	G	T32337577G	BRCA2	NM_000059.3(BRCA2):c.3222_3225del:p.Ser1074fs	coding	Pathogenic
13	32337582	TAG	T	A32337583T	BRCA2	NM_000059.3(BRCA2):c.3228_3229del:p.Val1077fs	coding	Pathogenic
13	32337587	G	GT	C32337591T	BRCA2	NM_000059.3(BRCA2):c.3235dup:p.Ser1079fs	coding	Pathogenic
13	32337587	GT	G	T32337590C	BRCA2	NM_000059.3(BRCA2):c.3235del:p.Ser1079fs	coding	Pathogenic
13	32337594	AT	A	T32337596G	BRCA2	NM_000059.3(BRCA2):c.3241del:p.Cys1081fs	coding	Pathogenic
13	32337598	TA	T	A32337603T	BRCA2	NM_000059.3(BRCA2):c.3248del:p.Asn1083fs	coding	Pathogenic
13	32337598	T	TA	T32337604A	BRCA2	NM_000059.3(BRCA2):c.3248dup:p.Asn1083fs	coding	Pathogenic
13	32337604	TAGTC	T	G32337606T	BRCA2	NM_000059.4(BRCA2):c.3251_3254del:p.Ser1084fs	coding	Pathogenic
13	32337608	CAT	C	T32337612A	BRCA2	NM_000059.3(BRCA2):c.3255_3256TA[1]:p.Ile1086fs	coding	Pathogenic
13	32337612	T	TA	C32337615A	BRCA2	NM_000059.3(BRCA2):c.3259dup:p.Thr1087fs	coding	Pathogenic
13	32337614	A	AC	T32337619C	BRCA2	NM_000059.3(BRCA2):c.3263dup:p.Gln1089fs	coding	Pathogenic
13	32337614	ACC	A	C32337617T	BRCA2	NM_000059.3(BRCA2):c.3262_3263del:p.Pro1088fs	coding	Pathogenic
13	32337618	C	CT	C32337620T	BRCA2	NM_000059.3(BRCA2):c.3264dupT:p.Gln1089Serfs	coding	Pathogenic
13	32337618	C	CTT	C32337620T	BRCA2	NM_000059.3(BRCA2):c.3264_3265insTT:p.Gln1089fs	coding	Pathogenic
13	32337618	CT	C	T32337619C	BRCA2	NM_000059.4(BRCA2):c.3264del:p.Gln1089fs	coding	Pathogenic
13	32337620	CAG	C	G32337622T	BRCA2	NM_000059.3(BRCA2):c.3267_3268del:p.Gln1089fs	coding	Pathogenic
13	32337623	AT	A	T32337624G	BRCA2	NM_000059.3(BRCA2):c.3269del:p.Met1090fs	coding	Pathogenic
13	32337624	TG	T	G32337625T	BRCA2	NM_000059.3(BRCA2):c.3270del:p.Met1090fs	coding	Pathogenic
13	32337625	GTTAT	G	A32337628T	BRCA2	NM_000059.3(BRCA2):c.3273_3276del:p.Leu1091fs	coding	Pathogenic
13	32337628	AT	A	T32337632C	BRCA2	NM_000059.3(BRCA2):c.3277del:p.Ser1093fs	coding	Pathogenic
13	32337637	GC	G	C32337638A	BRCA2	NM_000059.3(BRCA2):c.3283del:p.Gln1095fs	coding	Pathogenic
13	32337642	A	AT	A32337647T	BRCA2	NM_000059.3(BRCA2):c.3291dup:p.Asn1098Ter	coding	Pathogenic
13	32337646	TA	T	A32337648T	BRCA2	NM_000059.3(BRCA2):c.3293del:p.Asn1098fs	coding	Pathogenic
13	32337648	AT	A	T32337650C	BRCA2	NM_000059.3(BRCA2):c.3295del:p.Ser1099fs	coding	Pathogenic
13	32337655	C	CCATAATTTAACACCTAGCCAAAAGGCAGAAATTA	G32337692T	BRCA2	NM_000059.3(BRCA2):c.3303_3336dup:p.Glu1113Ter	coding	Pathogenic
13	32337660	A	AT	A32337664T	BRCA2	NM_000059.4(BRCA2):c.3308dup:p.Leu1103fs	coding	Pathogenic
13	32337660	A	ATT	A32337664T	BRCA2	NM_000059.3(BRCA2):c.3307_3308dup:p.Leu1103fs	coding	Pathogenic
13	32337660	AT	A	T32337663A	BRCA2	NM_000059.3(BRCA2):c.3308del:p.Asn1102_Leu1103insTer	coding	Pathogenic
13	32337674	CA	C	A32337678G	BRCA2	NM_000059.3(BRCA2):c.3323del:p.Lys1108fs	coding	Pathogenic
13	32337680	GC	G	C32337681A	BRCA2	NM_000059.3(BRCA2):c.3326del:p.Ala1109fs	coding	Pathogenic
13	32337683	GA	G	A32337686T	BRCA2	NM_000059.4(BRCA2):c.3331del:p.Ile1111fs	coding	Pathogenic
13	32337689	AC	A	C32337690A	BRCA2	NM_000059.3(BRCA2):c.3335del:p.Thr1112fs	coding	Pathogenic
13	32337690	CA	C	A32337691G	BRCA2	NM_000059.3(BRCA2):c.3336del:p.Glu1113fs	coding	Pathogenic
13	32337690	CAG	C	G32337692A	BRCA2	NM_000059.3(BRCA2):c.3337_3338del:p.Glu1113fs	coding	Pathogenic
13	32337695	CT	C	T32337698C	BRCA2	NM_000059.3(BRCA2):c.3343del:p.Ser1115fs	coding	Pathogenic
13	32337698	TC	T	C32337699T	BRCA2	NM_000059.3(BRCA2):c.3344del:p.Ser1115fs	coding	Pathogenic
13	32337699	C	CTA	C32337702T	BRCA2	NM_000059.3(BRCA2):c.3345_3346dup:p.Thr1116fs	coding	Pathogenic
13	32337700	TAC	T	A32337701T	BRCA2	NM_000059.3(BRCA2):c.3346_3347del:p.Thr1116fs	coding	Pathogenic
13	32337702	C	CTA	T32337708A	BRCA2	NM_000059.3(BRCA2):c.3349_3350AT[3]:p.Leu1118fs	coding	Pathogenic
13	32337703	TA	T	A32337704T	BRCA2	NM_000059.3(BRCA2):c.3349del:p.Ile1117fs	coding	Pathogenic
13	32337705	TA	T	A32337706T	BRCA2	NM_000059.3(BRCA2):c.3351del:p.Ile1117_Leu1118insTer	coding	Pathogenic
13	32337705	TATTAG	T	T32337707A	BRCA2	NM_000059.3(BRCA2):c.3352_3356del:p.Leu1118fs	coding	Pathogenic
13	32337707	TTAG	T	T32337708A	BRCA2	NM_000059.3(BRCA2):c.3353_3355del:p.Leu1118_Glu1119delinsTer	coding	Pathogenic
13	32337708	TA	T	A32337709G	BRCA2	NM_000059.3(BRCA2):c.3354del:p.Glu1119fs	coding	Pathogenic
13	32337712	AG	A	G32337713A	BRCA2	NM_000059.3(BRCA2):c.3358del:p.Glu1120fs	coding	Pathogenic
13	32337718	AG	A	G32337720A	BRCA2	NM_000059.3(BRCA2):c.3365del:p.Gly1122fs	coding	Pathogenic
13	32337719	GGAAGTC	ATTCTTCTAATTAATTGAATCAATTAAATTCAAACTG	G32337719A	BRCA2	NM_000059.3(BRCA2):c.3364_3370delinsATTCTTCTAATTAATTGAATCAATTAAATTCAAACTG:p.Gly1122_Gln1124delinsIleLeuLeuIleAsnTer	coding	Pathogenic
13	32337720	GAA	G	A32337721G	BRCA2	NM_000059.3(BRCA2):c.3366_3367del:p.Gln1124fs	coding	Pathogenic
13	32337733	AT	A	T32337736A	BRCA2	NM_000059.3(BRCA2):c.3381del:p.Phe1127fs	coding	Pathogenic
13	32337740	C	CA	G32337742A	BRCA2	NM_000059.3(BRCA2):c.3386dup:p.Phe1130fs	coding	Pathogenic
13	32337742	GT	G	T32337745A	BRCA2	NM_000059.3(BRCA2):c.3390del:p.Phe1130fs	coding	Pathogenic
13	32337747	GA	G	A32337751C	BRCA2	NM_000059.3(BRCA2):c.3396del:p.Lys1132fs	coding	Pathogenic
13	32337747	G	GA	C32337752A	BRCA2	NM_000059.4(BRCA2):c.3396dup:p.Pro1133fs	coding	Pathogenic
13	32337755	AG	A	G32337756C	BRCA2	NM_000059.3(BRCA2):c.3401del:p.Ser1134fs	coding	Pathogenic/Likely_pathogenic
13	32337761	ATATTGCAGAAGAG	A	T32337764C	BRCA2	NM_000059.3(BRCA2):c.3409_3421del:p.Leu1137fs	coding	Pathogenic
13	32337765	T	TG	C32337767G	BRCA2	NM_000059.3(BRCA2):c.3411dup:p.Gln1138fs	coding	Pathogenic
13	32337770	AAGAGT	G	A32337770G	BRCA2	NM_000059.4(BRCA2):c.3415_3420delinsG:p.Lys1139fs	coding	Pathogenic
13	32337776	AC	A	C32337777A	BRCA2	NM_000059.3(BRCA2):c.3422del:p.Thr1141fs	coding	Pathogenic
13	32337784	AG	A	G32337785T	BRCA2	NM_000059.4(BRCA2):c.3430del:p.Val1144fs	coding	Pathogenic
13	32337803	A	AAG	C32337804A	BRCA2	NM_000059.3(BRCA2):c.3448_3449insAG:p.Thr1150fs	coding	Pathogenic
13	32337804	C	CT	A32337806T	BRCA2	NM_000059.3(BRCA2):c.3450dup:p.Ile1151fs	coding	Pathogenic
13	32337804	CTA	C	A32337806C	BRCA2	NM_000059.3(BRCA2):c.3451_3452del:p.Ile1151fs	coding	Pathogenic
13	32337806	A	AT	C32337808T	BRCA2	NM_000059.3(BRCA2):c.3452dup:p.Thr1154fs	coding	Pathogenic
13	32337806	ATCTT	A	T32337807A	BRCA2	NM_000059.3(BRCA2):c.3452_3455del:p.Ile1151fs	coding	Pathogenic
13	32337807	TC	T	C32337808T	BRCA2	NM_000059.3(BRCA2):c.3453del:p.Ile1151_Leu1152insTer	coding	Pathogenic
13	32337808	C	CT	A32337811T	BRCA2	NM_000059.3(BRCA2):c.3455dup:p.Leu1152fs	coding	Pathogenic
13	32337808	C	CTT	A32337811T	BRCA2	NM_000059.3(BRCA2):c.3454_3455dup:p.Leu1152fs	coding	Pathogenic
13	32337808	CTT	C	T32337809A	BRCA2	NM_000059.3(BRCA2):c.3454_3455del:p.Leu1152fs	coding	Pathogenic
13	32337810	TA	T	A32337813G	BRCA2	NM_000059.3(BRCA2):c.3458del:p.Lys1153fs	coding	Pathogenic
13	32337810	T	TA	G32337814A	BRCA2	NM_000059.4(BRCA2):c.3458dup:p.Thr1154fs	coding	Pathogenic
13	32337815	AC	A	C32337817A	BRCA2	NM_000059.3(BRCA2):c.3462del:p.Thr1155fs	coding	Pathogenic
13	32337819	CTT	C	T32337820C	BRCA2	NM_000059.3(BRCA2):c.3465_3466del:p.Thr1155_Ser1156insTer	coding	Pathogenic
13	32337832	C	CAG	T32337838G	BRCA2	NM_000059.3(BRCA2):c.3479_3480GA[3]:p.Asp1161fs	coding	Pathogenic
13	32337833	AGAG	TGAGGA	A32337833T	BRCA2	NM_000059.3(BRCA2):c.3478_3481delinsTGAGGA:p.Arg1160_Asp1161delinsTer	coding	Pathogenic
13	32337835	AGATGCTGATCT	A	G32337836T	BRCA2	NM_000059.3(BRCA2):c.3481_3491del:p.Asp1161fs	coding	Pathogenic
13	32337841	TG	T	G32337842A	BRCA2	NM_000059.3(BRCA2):c.3487del:p.Asp1163fs	coding	Pathogenic
13	32337843	AT	A	T32337844C	BRCA2	NM_000059.3(BRCA2):c.3489del:p.Leu1164fs	coding	Pathogenic
13	32337845	C	CT	C32337848T	BRCA2	NM_000059.3(BRCA2):c.3492dup:p.His1165fs	coding	Pathogenic
13	32337851	GT	G	T32337852C	BRCA2	NM_000059.3(BRCA2):c.3497del:p.Val1166fs	coding	Pathogenic
13	32337853	CAT	C	T32337855A	BRCA2	NM_000059.3(BRCA2):c.3500_3501del:p.Ile1167fs	coding	Pathogenic
13	32337855	T	TA	T32337858A	BRCA2	NM_000059.3(BRCA2):c.3502dup:p.Met1168fs	coding	Pathogenic
13	32337882	TAGAC	T	A32337885C	BRCA2	NM_000059.3(BRCA2):c.3530_3533del:p.Asp1177fs	coding	Pathogenic
13	32337884	GAC	G	C32337886G	BRCA2	NM_000059.3(BRCA2):c.3531_3532del:p.Asp1177fs	coding	Pathogenic
13	32337885	ACAGC	A	C32337886A	BRCA2	NM_000059.3(BRCA2):c.3531_3534del:p.Asp1177fs	coding	Pathogenic
13	32337889	CAGCA	C	G32337895T	BRCA2	NM_000059.3(BRCA2):c.3536_3539GCAA[1]:p.Lys1180fs	coding	Pathogenic
13	32337898	AT	A	T32337901G	BRCA2	NM_000059.3(BRCA2):c.3546del:p.Phe1182fs	coding	Pathogenic
13	32337898	ATT	A	T32337900G	BRCA2	NM_000059.3(BRCA2):c.3545_3546del:p.Gln1181_Phe1182insTer	coding	Pathogenic
13	32337907	TAC	T	C32337909G	BRCA2	NM_000059.3(BRCA2):c.3554_3555del:p.Thr1185fs	coding	Pathogenic
13	32337908	ACAGTTGAAAT	A	C32337909T	BRCA2	NM_000059.3(BRCA2):c.3554_3563del:p.Thr1185fs	coding	Pathogenic
13	32337909	CAGTTGAAATT	C	G32337911A	BRCA2	NM_000059.3(BRCA2):c.3556_3565del:p.Val1186fs	coding	Pathogenic
13	32337911	G	TTACAA	G32337911T	BRCA2	NM_000059.4(BRCA2):c.3556delinsTTACAA:p.Val1186fs	coding	Pathogenic
13	32337918	TTAAA	T	T32337919C	BRCA2	NM_000059.3(BRCA2):c.3564_3567del:p.Lys1189fs	coding	Pathogenic
13	32337923	CG	C	G32337925A	BRCA2	NM_000059.3(BRCA2):c.3570del:p.Lys1191fs	coding	Pathogenic
13	32337943	GA	G	A32337948T	BRCA2	NM_000059.3(BRCA2):c.3593del:p.Asn1198fs	coding	Pathogenic
13	32337943	G	GA	T32337949A	BRCA2	NM_000059.3(BRCA2):c.3593dup:p.Asn1198fs	coding	Pathogenic
13	32337948	ATGAC	A	A32337951T	BRCA2	NM_000059.3(BRCA2):c.3596_3599del:p.Asp1199fs	coding	Pathogenic
13	32337952	CTG	C	G32337954A	BRCA2	NM_000059.3(BRCA2):c.3599_3600del:p.Asp1199_Cys1200insTer	coding	Pathogenic
13	32337953	TG	T	G32337954T	BRCA2	NM_000059.3(BRCA2):c.3599del:p.Cys1200fs	coding	Pathogenic
13	32337957	AC	A	C32337958A	BRCA2	NM_000059.3(BRCA2):c.3603del:p.Asn1201fs	coding	Pathogenic
13	32337973	T	TTA	T32337977A	BRCA2	NM_000059.3(BRCA2):c.3620_3621dup:p.Leu1208fs	coding	Pathogenic
13	32337981	CAG	C	G32337983T	BRCA2	NM_000059.3(BRCA2):c.3628_3629del:p.Thr1209_Asp1210insTer	coding	Pathogenic
13	32337986	GA	G	A32337990T	BRCA2	NM_000059.3(BRCA2):c.3635del:p.Asn1212fs	coding	Pathogenic
13	32337986	G	GA	T32337991A	BRCA2	NM_000059.3(BRCA2):c.3635dup:p.Asn1212fs	coding	Pathogenic
13	32337988	AAATG	A	T32337991G	BRCA2	NM_000059.3(BRCA2):c.3636_3639del:p.Asn1212fs	coding	Pathogenic
13	32337991	TG	T	G32337992A	BRCA2	NM_000059.3(BRCA2):c.3637del:p.Glu1213fs	coding	Pathogenic
13	32337992	GA	G	A32337994G	BRCA2	NM_000059.3(BRCA2):c.3639del:p.Val1214fs	coding	Pathogenic
13	32337993	AAGTGGGGTTTAGGG	A	A32337994G	BRCA2	NM_000059.3(BRCA2):c.3639_3652del:p.Val1214fs	coding	Pathogenic
13	32337995	G	GT	G32337997T	BRCA2	NM_000059.3(BRCA2):c.3641dup:p.Phe1216fs	coding	Pathogenic
13	32337995	GT	G	T32337996G	BRCA2	NM_000059.3(BRCA2):c.3641del:p.Val1214fs	coding	Pathogenic
13	32338000	G	GT	A32338004T	BRCA2	NM_000059.4(BRCA2):c.3648dup:p.Arg1217Ter	coding	Pathogenic
13	32338000	GT	TAAAAAG	G32338000T	BRCA2	NM_000059.3(BRCA2):c.3645_3646delinsTAAAAAG:p.Phe1216fs	coding	Pathogenic
13	32338000	GTT	TA	G32338000T	BRCA2	NM_000059.3(BRCA2):c.3645_3647delinsTA:p.Phe1216fs	coding	Pathogenic
13	32338003	TA	T	A32338004G	BRCA2	NM_000059.3(BRCA2):c.3649del:p.Arg1217fs	coding	Pathogenic
13	32338029	C	CA	C32338034A	BRCA2	NM_000059.3(BRCA2):c.3678dup:p.Leu1227fs	coding	Pathogenic
13	32338031	AAACTG	A	C32338034T	BRCA2	NM_000059.3(BRCA2):c.3679_3683del:p.Leu1227fs	coding	Pathogenic
13	32338034	CTGAA	C	A32338037T	BRCA2	NM_000059.3(BRCA2):c.3682_3685del:p.Asn1228fs	coding	Pathogenic
13	32338034	CTG	C	T32338035A	BRCA2	NM_000059.3(BRCA2):c.3680_3681del:p.Leu1227fs	coding	Pathogenic
13	32338035	TG	T	G32338036A	BRCA2	NM_000059.3(BRCA2):c.3681del:p.Asn1228fs	coding	Pathogenic
13	32338038	A	GG	A32338038G	BRCA2	NM_000059.3(BRCA2):c.3683delinsGG:p.Asn1228fs	coding	Pathogenic
13	32338038	ATG	A	G32338040T	BRCA2	NM_000059.3(BRCA2):c.3685_3686del:p.Val1229fs	coding	Pathogenic
13	32338039	TG	T	G32338040T	BRCA2	NM_000059.3(BRCA2):c.3685del:p.Val1229fs	coding	Pathogenic
13	32338040	GT	G	T32338043C	BRCA2	NM_000059.3(BRCA2):c.3688del:p.Ser1230fs	coding	Pathogenic
13	32338042	TTC	T	C32338044A	BRCA2	NM_000059.3(BRCA2):c.3689_3690del:p.Ser1230fs	coding	Pathogenic
13	32338043	TC	T	C32338044T	BRCA2	NM_000059.3(BRCA2):c.3689del:p.Ser1230fs	coding	Pathogenic
13	32338049	GA	G	A32338051G	BRCA2	NM_000059.3(BRCA2):c.3696del:p.Ala1233fs	coding	Pathogenic
13	32338058	C	CA	G32338064A	BRCA2	NM_000059.3(BRCA2):c.3708dup:p.Ala1237fs	coding	Pathogenic
13	32338064	GC	G	C32338065T	BRCA2	NM_000059.3(BRCA2):c.3710del:p.Ala1237fs	coding	Pathogenic
13	32338069	GA	G	A32338072C	BRCA2	NM_000059.3(BRCA2):c.3717del:p.Lys1239fs	coding	Pathogenic
13	32338073	CTG	C	G32338075T	BRCA2	NM_000059.3(BRCA2):c.3720_3721del:p.Leu1240_Phe1241insTer	coding	Pathogenic
13	32338073	CTGTT	C	G32338075A	BRCA2	NM_000059.3(BRCA2):c.3720_3723del:p.Phe1241fs	coding	Pathogenic
13	32338075	GT	G	T32338078A	BRCA2	NM_000059.3(BRCA2):c.3723del:p.Phe1241fs	coding	Pathogenic
13	32338078	TAG	AT	T32338078A	BRCA2	NM_000059.3(BRCA2):c.3723_3725delinsAT:p.Phe1241fs	coding	Pathogenic
13	32338078	T	TA	G32338080A	BRCA2	NM_000059.3(BRCA2):c.3724dup:p.Ser1242fs	coding	Pathogenic
13	32338082	G	GA	T32338084A	BRCA2	NM_000059.3(BRCA2):c.3728dup:p.Asp1243fs	coding	Pathogenic
13	32338083	ATATT	A	T32338084G	BRCA2	NM_000059.4(BRCA2):c.3729_3732del:p.Asp1243fs	coding	Pathogenic
13	32338090	GA	G	A32338092T	BRCA2	NM_000059.3(BRCA2):c.3737del:p.Asn1246fs	coding	Pathogenic
13	32338092	ATATT	A	T32338093A	BRCA2	NM_000059.3(BRCA2):c.3738_3741del:p.Asn1246fs	coding	Pathogenic/Likely_pathogenic
13	32338093	TA	T	A32338094T	BRCA2	NM_000059.3(BRCA2):c.3739del:p.Ile1247fs	coding	Pathogenic
13	32338094	AT	A	T32338096A	BRCA2	NM_000059.3(BRCA2):c.3741del:p.Ser1248fs	coding	Pathogenic
13	32338096	TAGTG	T	T32338099G	BRCA2	NM_000059.3(BRCA2):c.3744_3747del:p.Ser1248fs	coding	Pathogenic
13	32338103	G	GA	C32338107A	BRCA2	NM_000059.3(BRCA2):c.3751dup:p.Thr1251fs	coding	Pathogenic
13	32338116	AGGT	TTTATCTTCAAGTAAGTTTATCTTCAAGTAAATATCTTCAAGTAA	A32338116T	BRCA2	NM_000059.3(BRCA2):c.3761_3764delinsTTTATCTTCAAGTAAGTTTATCTTCAAGTAAATATCTTCAAGTAA:p.Glu1254fs	coding	Pathogenic
13	32338125	CA	C	A32338127T	BRCA2	NM_000059.3(BRCA2):c.3772del:p.Pro1257_Ile1258insTer	coding	Pathogenic
13	32338126	AAT	A	T32338128A	BRCA2	NM_000059.3(BRCA2):c.3773_3774del:p.Ile1258fs	coding	Pathogenic
13	32338128	TAA	T	A32338129G	BRCA2	NM_000059.3(BRCA2):c.3774_3775del:p.Ile1258fs	coding	Pathogenic
13	32338131	G	GT	A32338135T	BRCA2	NM_000059.3(BRCA2):c.3779dup:p.Leu1260fs	coding	Pathogenic
13	32338131	GT	G	T32338134A	BRCA2	NM_000059.3(BRCA2):c.3779del:p.Leu1260fs	coding	Pathogenic
13	32338131	GTT	G	T32338133A	BRCA2	NM_000059.3(BRCA2):c.3778_3779del:p.Leu1260fs	coding	Pathogenic
13	32338161	TTG	T	G32338163T	BRCA2	NM_000059.3(BRCA2):c.3808_3809del:p.Val1270fs	coding	Pathogenic
13	32338163	GT	G	T32338166C	BRCA2	NM_000059.3(BRCA2):c.3811del:p.Ser1271fs	coding	Pathogenic
13	32338168	A	AC	A32338169C	BRCA2	NM_000059.3(BRCA2):c.3813_3814insC:p.Met1272fs	coding	Pathogenic
13	32338169	A	AC	T32338170C	BRCA2	NM_000059.3(BRCA2):c.3814_3815insC:p.Met1272fs	coding	Pathogenic
13	32338171	G	GT	A32338175T	BRCA2	NM_000059.3(BRCA2):c.3819dup:p.Lys1274Ter	coding	Pathogenic
13	32338174	TAAGA	T	A32338175T	BRCA2	NM_000059.3(BRCA2):c.3820_3823del:p.Phe1273_Lys1274insTer	coding	Pathogenic
13	32338175	AAGAT	A	T32338179A	BRCA2	NM_000059.3(BRCA2):c.3824_3827del:p.Ile1275fs	coding	Pathogenic
13	32338177	GAT	G	T32338179G	BRCA2	NM_000059.3(BRCA2):c.3824_3825del:p.Ile1275fs	coding	Pathogenic
13	32338181	GAA	G	A32338184T	BRCA2	NM_000059.3(BRCA2):c.3829_3830del:p.Asn1277fs	coding	Pathogenic
13	32338181	GA	G	A32338185T	BRCA2	NM_000059.3(BRCA2):c.3830del:p.Asn1277fs	coding	Pathogenic
13	32338187	CAT	C	T32338189A	BRCA2	NM_000059.3(BRCA2):c.3834_3835del:p.His1278fs	coding	Pathogenic
13	32338189	TA	T	A32338191T	BRCA2	NM_000059.3(BRCA2):c.3836del:p.Asn1279fs	coding	Pathogenic
13	32338189	T	TA	T32338192A	BRCA2	NM_000059.3(BRCA2):c.3836dup:p.Asn1279fs	coding	Pathogenic
13	32338191	AT	A	T32338192G	BRCA2	NM_000059.3(BRCA2):c.3837del:p.Asn1279fs	coding	Pathogenic
13	32338200	CTG	A	C32338200A	BRCA2	NM_000059.4(BRCA2):c.3845_3847delinsA:p.Thr1282fs	coding	Pathogenic
13	32338200	CTG	C	G32338202A	BRCA2	NM_000059.3(BRCA2):c.3847_3848del:p.Val1283fs	coding	Pathogenic
13	32338201	TGTAA	T	A32338204G	BRCA2	NM_000059.3(BRCA2):c.3849_3852del:p.Ser1284fs	coding	Pathogenic
13	32338201	TG	T	G32338202T	BRCA2	NM_000059.3(BRCA2):c.3847del:p.Thr1282_Val1283insTer	coding	Pathogenic
13	32338202	G	GT	A32338204T	BRCA2	NM_000059.3(BRCA2):c.3848dup:p.Ser1284fs	coding	Pathogenic
13	32338204	A	AT	A32338205T	BRCA2	NM_000059.3(BRCA2):c.3849_3850insT:p.Ser1284Ter	coding	Pathogenic
13	32338207	T	TG	A32338209G	BRCA2	NM_000059.4(BRCA2):c.3853dup:p.Glu1285fs	coding	Pathogenic
13	32338208	GAAAA	G	A32338212T	BRCA2	NM_000059.3(BRCA2):c.3857_3860del:p.Lys1286fs	coding	Pathogenic
13	32338208	GAA	G	A32338214T	BRCA2	NM_000059.3(BRCA2):c.3859_3860del:p.Lys1286_Asn1287insTer	coding	Pathogenic
13	32338208	GA	G	A32338215T	BRCA2	NM_000059.3(BRCA2):c.3860del:p.Asn1287fs	coding	Pathogenic
13	32338208	G	GA	T32338216A	BRCA2	NM_000059.3(BRCA2):c.3860dupA:p.Asn1287Lysfs	coding	Pathogenic
13	32338212	AAAAT	A	A32338215T	BRCA2	NM_000059.3(BRCA2):c.3860_3863del:p.Asn1287fs	coding	Pathogenic
13	32338214	AATAAT	A	T32338216A	BRCA2	NM_000059.3(BRCA2):c.3861_3865del:p.Asn1287fs	coding	Pathogenic
13	32338215	ATAAT	A	T32338216A	BRCA2	NM_000059.3(BRCA2):c.3861_3864del:p.Asn1287fs	coding	Pathogenic
13	32338216	TAATA	T	A32338220G	BRCA2	NM_000059.3(BRCA2):c.3865_3868del:p.Lys1289fs	coding	Pathogenic
13	32338216	T	TA	T32338219A	BRCA2	NM_000059.3(BRCA2):c.3863dup:p.Asn1288fs	coding	Pathogenic
13	32338216	T	TTA	A32338217T	BRCA2	NM_000059.4(BRCA2):c.3861_3862insTA:p.Asn1288Ter	coding	Pathogenic
13	32338217	AAT	A	T32338219A	BRCA2	NM_000059.3(BRCA2):c.3864_3865del:p.Asn1288fs	coding	Pathogenic
13	32338219	TAA	T	A32338221T	BRCA2	NM_000059.3(BRCA2):c.3866_3867del:p.Lys1289fs	coding	Pathogenic
13	32338219	T	TA	T32338223A	BRCA2	NM_000059.3(BRCA2):c.3867dup:p.Cys1290fs	coding	Pathogenic
13	32338220	A	AAAT	G32338224A	BRCA2	NM_000059.3(BRCA2):c.3866_3868dup:p.Cys1290Ter	coding	Pathogenic
13	32338220	AAATG	A	A32338221C	BRCA2	NM_000059.3(BRCA2):c.3866_3869del:p.Lys1289fs	coding	Pathogenic
13	32338226	CA	C	A32338228C	BRCA2	NM_000059.3(BRCA2):c.3873del:p.Gln1291fs	coding	Pathogenic
13	32338231	GAT	G	A32338234T	BRCA2	NM_000059.4(BRCA2):c.3877_3878AT[1]:p.Leu1294fs	coding	Pathogenic
13	32338233	TATTAC	T	T32338235A	BRCA2	NM_000059.3(BRCA2):c.3880_3884del:p.Leu1294fs	coding	Pathogenic
13	32338234	AT	A	T32338236A	BRCA2	NM_000059.3(BRCA2):c.3881del:p.Leu1294fs	coding	Pathogenic
13	32338238	CA	C	A32338242T	BRCA2	NM_000059.3(BRCA2):c.3887del:p.Asn1296fs	coding	Pathogenic
13	32338260	CT	C	T32338261G	BRCA2	NM_000059.3(BRCA2):c.3906del:p.Gly1303fs	coding	Pathogenic
13	32338265	AC	A	C32338266T	BRCA2	NM_000059.3(BRCA2):c.3911del:p.Thr1304fs	coding	Pathogenic
13	32338266	CT	C	T32338270G	BRCA2	NM_000059.3(BRCA2):c.3915del:p.Phe1305fs	coding	Pathogenic
13	32338266	CTT	C	T32338269G	BRCA2	NM_000059.3(BRCA2):c.3914_3915del:p.Phe1305fs	coding	Pathogenic/Likely_pathogenic
13	32338273	TG	T	G32338274A	BRCA2	NM_000059.3(BRCA2):c.3919del:p.Glu1307fs	coding	Pathogenic
13	32338274	GAAGAAATTACTGAAAATTACAA	G	A32338275G	BRCA2	NM_000059.3(BRCA2):c.3920_3941del:p.Glu1307fs	coding	Pathogenic
13	32338282	T	TA	C32338284A	BRCA2	NM_000059.4(BRCA2):c.3928dup:p.Thr1310fs	coding	Pathogenic
13	32338283	AC	A	C32338284T	BRCA2	NM_000059.3(BRCA2):c.3929del:p.Thr1310fs	coding	Pathogenic
13	32338285	TGAAAATTACAA	T	A32338288G	BRCA2	NM_000059.3(BRCA2):c.3933_3943del:p.Asn1312fs	coding	Pathogenic
13	32338288	AAATTACAAGAGAAATACTG	A	T32338291A	BRCA2	NM_000059.3(BRCA2):c.3936_3954del:p.Asn1312fs	coding	Pathogenic
13	32338290	AT	A	T32338292A	BRCA2	NM_000059.3(BRCA2):c.3937del:p.Tyr1313fs	coding	Pathogenic/Likely_pathogenic
13	32338293	AC	A	C32338294A	BRCA2	NM_000059.3(BRCA2):c.3939del:p.Asn1312_Tyr1313insTer	coding	Pathogenic
13	32338294	CAA	C	A32338295G	BRCA2	NM_000059.3(BRCA2):c.3940_3941del:p.Lys1314fs	coding	Pathogenic
13	32338309	AAATG	A	T32338312G	BRCA2	NM_000059.3(BRCA2):c.3957_3960del:p.Asn1319fs	coding	Pathogenic
13	32338311	ATG	A	T32338312A	BRCA2	NM_000059.3(BRCA2):c.3957_3958del:p.Asn1319fs	coding	Pathogenic
13	32338321	CAAAT	C	A32338323T	BRCA2	NM_000059.3(BRCA2):c.3968_3971del:p.Lys1323fs	coding	Pathogenic
13	32338323	AAT	A	T32338327C	BRCA2	NM_000059.3(BRCA2):c.3970_3971TA[1]:p.Thr1325fs	coding	Pathogenic
13	32338325	TA	T	A32338326T	BRCA2	NM_000059.3(BRCA2):c.3971del:p.Tyr1324fs	coding	Pathogenic
13	32338326	ATACT	A	T32338327G	BRCA2	NM_000059.3(BRCA2):c.3972_3975del:p.Lys1323_Tyr1324insTer	coding	Pathogenic
13	32338329	C	CTGCT	G32338334T	BRCA2	NM_000059.3(BRCA2):c.3975_3978dup:p.Ala1327fs	coding	Pathogenic
13	32338333	T	TTTGC	G32338334T	BRCA2	NM_000059.3(BRCA2):c.3978_3979insTTGC:p.Ala1327fs	coding	Pathogenic
13	32338354	CTT	C	T32338355A	BRCA2	NM_000059.3(BRCA2):c.4000_4001del:p.Leu1334fs	coding	Pathogenic
13	32338358	G	GA	T32338361A	BRCA2	NM_000059.3(BRCA2):c.4005dup:p.Phe1336fs	coding	Pathogenic
13	32338361	T	TA	T32338362A	BRCA2	NM_000059.3(BRCA2):c.4006_4007insA:p.Phe1336fs	coding	Pathogenic
13	32338361	T	TCATC	T32338362C	BRCA2	NM_000059.3(BRCA2):c.4006_4007insCATC:p.Phe1336fs	coding	Pathogenic
13	32338362	T	TCATC	T32338363C	BRCA2	NM_000059.3(BRCA2):c.4007_4008insCATC:p.Asp1337fs	coding	Pathogenic
13	32338363	T	TCATC	G32338364C	BRCA2	NM_000059.4(BRCA2):c.4008_4009insCATC:p.Asp1337fs	coding	Pathogenic
13	32338366	TG	T	G32338368C	BRCA2	NM_000059.3(BRCA2):c.4013del:p.Gly1338fs	coding	Pathogenic
13	32338366	T	TGG	C32338369G	BRCA2	NM_000059.3(BRCA2):c.4012_4013dup:p.Ser1339fs	coding	Pathogenic
13	32338367	GGC	G	G32338368A	BRCA2	NM_000059.3(BRCA2):c.4013_4014del:p.Gly1338fs	coding	Pathogenic
13	32338369	C	CGG	A32338370G	BRCA2	NM_000059.3(BRCA2):c.4014_4015insGG:p.Ser1339fs	coding	Pathogenic
13	32338374	A	AT	C32338377T	BRCA2	NM_000059.3(BRCA2):c.4021dup:p.Ser1341fs	coding	Pathogenic
13	32338374	AT	A	T32338376C	BRCA2	NM_000059.3(BRCA2):c.4021del:p.Ser1341fs	coding	Pathogenic
13	32338383	AAAATG	A	A32338385T	BRCA2	NM_000059.3(BRCA2):c.4030_4034del:p.Asn1344fs	coding	Pathogenic
13	32338385	AATGAT	C	A32338385C	BRCA2	NM_000059.3(BRCA2):c.4030_4035delinsC:p.Asn1344fs	coding	Pathogenic
13	32338391	AC	A	C32338392T	BRCA2	NM_000059.3(BRCA2):c.4037del:p.Thr1346fs	coding	Pathogenic
13	32338391	ACT	A	C32338392G	BRCA2	NM_000059.3(BRCA2):c.4037_4038del:p.Thr1346fs	coding	Pathogenic
13	32338394	G	GT	G32338398T	BRCA2	NM_000059.3(BRCA2):c.4042dup:p.Cys1348fs	coding	Pathogenic
13	32338394	GTT	G	T32338396G	BRCA2	NM_000059.3(BRCA2):c.4041_4042del:p.Cys1348fs	coding	Pathogenic
13	32338402	TCATA	T	C32338403A	BRCA2	NM_000059.3(BRCA2):c.4048_4051del:p.His1350fs	coding	Pathogenic
13	32338402	T	TC	A32338404C	BRCA2	NM_000059.3(BRCA2):c.4048dup:p.His1350fs	coding	Pathogenic
13	32338411	TGAAAC	T	A32338413G	BRCA2	NM_000059.3(BRCA2):c.4058_4062del:p.Glu1353fs	coding	Pathogenic
13	32338412	G	GA	C32338416A	BRCA2	NM_000059.4(BRCA2):c.4060dup:p.Thr1354fs	coding	Pathogenic
13	32338424	C	CT	A32338426T	BRCA2	NM_000059.3(BRCA2):c.4070dup:p.Phe1358fs	coding	Pathogenic
13	32338430	AC	A	C32338431T	BRCA2	NM_000059.3(BRCA2):c.4076del:p.Thr1359fs	coding	Pathogenic
13	32338439	CA	C	A32338440C	BRCA2	NM_000059.3(BRCA2):c.4085del:p.His1362fs	coding	Pathogenic
13	32338444	CAT	C	A32338447G	BRCA2	NM_000059.4(BRCA2):c.4090_4091AT[1]:p.Ile1364fs	coding	Pathogenic
13	32338446	T	TAA	T32338448A	BRCA2	NM_000059.3(BRCA2):c.4092_4093insAA:p.Cys1365fs	coding	Pathogenic
13	32338446	T	TA	T32338448A	BRCA2	NM_000059.3(BRCA2):c.4092dup:p.Cys1365fs	coding	Pathogenic
13	32338449	G	GTCCA	T32338452C	BRCA2	NM_000059.3(BRCA2):c.4096_4097insCATC:p.Leu1366fs	coding	Pathogenic
13	32338449	GT	G	T32338450C	BRCA2	NM_000059.3(BRCA2):c.4095del:p.Lys1367fs	coding	Pathogenic
13	32338451	CTTAAA	C	A32338455T	BRCA2	NM_000059.3(BRCA2):c.4100_4104del:p.Lys1367fs	coding	Pathogenic
13	32338452	T	TCATC	T32338453C	BRCA2	NM_000059.3(BRCA2):c.4097_4098insCATC:p.Lys1367fs	coding	Pathogenic
13	32338453	TA	T	A32338456T	BRCA2	NM_000059.3(BRCA2):c.4101del:p.Lys1367fs	coding	Pathogenic
13	32338453	T	TA	T32338457A	BRCA2	NM_000059.3(BRCA2):c.4101dup:p.Leu1368fs	coding	Pathogenic
13	32338453	T	TCATC	A32338454C	BRCA2	NM_000059.3(BRCA2):c.4098_4099insCATC:p.Lys1367fs	coding	Pathogenic
13	32338456	AT	A	T32338458A	BRCA2	NM_000059.3(BRCA2):c.4103del:p.Leu1368fs	coding	Pathogenic
13	32338458	TA	T	A32338459T	BRCA2	NM_000059.3(BRCA2):c.4104del:p.Leu1368fs	coding	Pathogenic
13	32338466	C	CA	G32338468A	BRCA2	NM_000059.3(BRCA2):c.4112dup:p.Phe1372fs	coding	Pathogenic
13	32338471	T	TA	T32338473A	BRCA2	NM_000059.3(BRCA2):c.4117dup:p.Met1373fs	coding	Pathogenic
13	32338474	GA	G	A32338476G	BRCA2	NM_000059.3(BRCA2):c.4121del:p.Lys1374fs	coding	Pathogenic
13	32338478	GA	G	A32338479G	BRCA2	NM_000059.3(BRCA2):c.4124del:p.Glu1375fs	coding	Pathogenic
13	32338481	GGAAA	G	G32338482C	BRCA2	NM_000059.3(BRCA2):c.4127_4130del:p.Gly1376fs	coding	Pathogenic
13	32338482	GA	G	A32338485C	BRCA2	NM_000059.3(BRCA2):c.4130del:p.Asn1377fs	coding	Pathogenic
13	32338485	ACACT	A	C32338488G	BRCA2	NM_000059.3(BRCA2):c.4133_4136del:p.Thr1378fs	coding	Pathogenic
13	32338486	C	CTGAGGA	A32338487T	BRCA2	NM_000059.3(BRCA2):c.4131_4132insTGAGGA:p.Thr1378Ter	coding	Pathogenic
13	32338489	TC	T	C32338490A	BRCA2	NM_000059.3(BRCA2):c.4135del:p.Gln1379fs	coding	Pathogenic
13	32338490	CAGATT	C	G32338492A	BRCA2	NM_000059.3(BRCA2):c.4137_4141del:p.Ile1380fs	coding	Pathogenic
13	32338490	C	CA	G32338492A	BRCA2	NM_000059.3(BRCA2):c.4136dup:p.Ile1380fs	coding	Pathogenic
13	32338493	A	ATT	A32338496T	BRCA2	NM_000059.3(BRCA2):c.4139_4140dup:p.Lys1381fs	coding	Pathogenic
13	32338496	AAAG	A	A32338501T	BRCA2	NM_000059.3(BRCA2):c.4146_4148del	coding	Benign
13	32338500	AAGAT	A	A32338501T	BRCA2	NM_000059.3(BRCA2):c.4146_4149del:p.Glu1382fs	coding	Pathogenic
13	32338502	GAT	G	A32338503T	BRCA2	NM_000059.3(BRCA2):c.4148_4149del:p.Asp1383fs	coding	Pathogenic
13	32338503	AT	A	T32338506G	BRCA2	NM_000059.3(BRCA2):c.4151del:p.Leu1384fs	coding	Pathogenic
13	32338515	T	TGGAAG	A32338516G	BRCA2	NM_000059.3(BRCA2):c.4160_4161insGGAAG:p.Thr1388fs	coding	Pathogenic
13	32338516	AACTTT	A	A32338517T	BRCA2	NM_000059.3(BRCA2):c.4162_4166del:p.Thr1388fs	coding	Pathogenic
13	32338518	C	CT	G32338525T	BRCA2	NM_000059.3(BRCA2):c.4169dup:p.Leu1390fs	coding	Pathogenic
13	32338518	CT	A	C32338518A	BRCA2	NM_000059.4(BRCA2):c.4163_4164delinsA:p.Thr1388fs	coding	Pathogenic
13	32338518	CT	C	T32338524G	BRCA2	NM_000059.3(BRCA2):c.4169del:p.Leu1390fs	coding	Pathogenic
13	32338518	CTT	C	T32338523G	BRCA2	NM_000059.3(BRCA2):c.4168_4169del:p.Leu1390fs	coding	Pathogenic
13	32338524	TGG	T	G32338525A	BRCA2	NM_000059.3(BRCA2):c.4170_4171del:p.Glu1391fs	coding	Pathogenic
13	32338524	TG	T	G32338526A	BRCA2	NM_000059.3(BRCA2):c.4171del:p.Glu1391fs	coding	Pathogenic
13	32338529	GT	G	T32338531G	BRCA2	NM_000059.3(BRCA2):c.4176del:p.Ala1393fs	coding	Pathogenic
13	32338531	T	TG	C32338533G	BRCA2	NM_000059.3(BRCA2):c.4177dup:p.Ala1393fs	coding	Pathogenic
13	32338537	AG	A	G32338538C	BRCA2	NM_000059.4(BRCA2):c.4183del:p.Ala1395fs	coding	Pathogenic
13	32338541	CA	C	A32338543G	BRCA2	NM_000059.3(BRCA2):c.4188del:p.Glu1397fs	coding	Pathogenic
13	32338564	TTCAAA	T	C32338566A	BRCA2	NM_000059.3(BRCA2):c.4211_4215del:p.Thr1403_Ser1404insTer	coding	Pathogenic
13	32338565	TC	T	C32338566A	BRCA2	NM_000059.3(BRCA2):c.4211del:p.Thr1403_Ser1404insTer	coding	Pathogenic
13	32338570	TAAAG	T	A32338573C	BRCA2	NM_000059.3(BRCA2):c.4218_4221del:p.Lys1406fs	coding	Pathogenic
13	32338574	GA	G	A32338576C	BRCA2	NM_000059.3(BRCA2):c.4221del:p.Glu1407fs	coding	Pathogenic
13	32338577	CA	C	A32338578G	BRCA2	NM_000059.3(BRCA2):c.4223del:p.Gln1408fs	coding	Pathogenic
13	32338581	T	TA	C32338584A	BRCA2	NM_000059.3(BRCA2):c.4228_4229insA:p.Thr1410Asnfs	coding	Pathogenic
13	32338584	C	CA	T32338585A	BRCA2	NM_000059.3(BRCA2):c.4229_4230insA:p.Ala1411fs	coding	Pathogenic
13	32338599	AG	A	G32338600C	BRCA2	NM_000059.3(BRCA2):c.4245del:p.Glu1415fs	coding	Pathogenic
13	32338607	ATAA	T	A32338607T	BRCA2	NM_000059.3(BRCA2):c.4252_4255delinsT:p.Ile1418_Lys1419delinsTer	coding	Pathogenic
13	32338612	AG	A	G32338613A	BRCA2	NM_000059.3(BRCA2):c.4258del:p.Asp1420fs	coding	Pathogenic
13	32338614	A	AT	G32338619T	BRCA2	NM_000059.3(BRCA2):c.4263dup:p.Glu1422Ter	coding	Pathogenic
13	32338616	TTTGAGAC	T	G32338619C	BRCA2	NM_000059.3(BRCA2):c.4264_4270del:p.Glu1422fs	coding	Pathogenic
13	32338618	TGA	T	G32338621C	BRCA2	NM_000059.3(BRCA2):c.4264_4265GA[1]:p.Glu1422fs	coding	Pathogenic
13	32338625	TC	T	C32338626T	BRCA2	NM_000059.3(BRCA2):c.4271del:p.Ser1424fs	coding	Pathogenic
13	32338627	TG	T	G32338628A	BRCA2	NM_000059.3(BRCA2):c.4273del:p.Asp1425fs	coding	Pathogenic
13	32338630	T	TA	C32338632A	BRCA2	NM_000059.3(BRCA2):c.4276dupA:p.Thr1426Asnfs	coding	Pathogenic
13	32338631	AC	A	C32338632A	BRCA2	NM_000059.3(BRCA2):c.4277del:p.Thr1426fs	coding	Pathogenic
13	32338633	A	AT	C32338640T	BRCA2	NM_000059.4(BRCA2):c.4284dup:p.Gln1429fs	coding	Pathogenic
13	32338633	AT	A	T32338639C	BRCA2	NM_000059.4(BRCA2):c.4284del:p.Gln1429fs	coding	Pathogenic
13	32338640	C	CT	A32338641T	BRCA2	NM_000059.3(BRCA2):c.4285_4286insT:p.Gln1429fs	coding	Pathogenic
13	32338654	GA	G	A32338659T	BRCA2	NM_000059.3(BRCA2):c.4304del:p.Asn1435fs	coding	Pathogenic
13	32338658	AAT	A	A32338661T	BRCA2	NM_000059.3(BRCA2):c.4304_4305AT[1]:p.Asn1435_Ile1436insTer	coding	Pathogenic
13	32338659	AT	A	T32338660A	BRCA2	NM_000059.3(BRCA2):c.4305del:p.Asn1435fs	coding	Pathogenic
13	32338664	A	AGT	C32338669G	BRCA2	NM_000059.3(BRCA2):c.4310_4311GT[3]:p.Ala1439fs	coding	Pathogenic
13	32338668	TC	T	C32338669G	BRCA2	NM_000059.3(BRCA2):c.4314del:p.Ala1439fs	coding	Pathogenic
13	32338671	CCAAAGAGTCAT	C	C32338672T	BRCA2	NM_000059.4(BRCA2):c.4317_4327del:p.Ala1439_Lys1440insTer	coding	Pathogenic
13	32338672	CAA	C	A32338674G	BRCA2	NM_000059.3(BRCA2):c.4319_4320del:p.Lys1440fs	coding	Pathogenic
13	32338674	AAG	A	A32338677T	BRCA2	NM_000059.4(BRCA2):c.4320_4321AG[1]:p.Glu1441fs	coding	Pathogenic
13	32338688	AAAATT	A	A32338689G	BRCA2	NM_000059.3(BRCA2):c.4334_4338del:p.Lys1445fs	coding	Pathogenic
13	32338693	TG	T	G32338694T	BRCA2	NM_000059.3(BRCA2):c.4339del:p.Ile1446_Val1447insTer	coding	Pathogenic
13	32338698	ATTTCT	A	T32338701G	BRCA2	NM_000059.3(BRCA2):c.4346_4350del:p.Asn1448_Phe1449insTer	coding	Pathogenic
13	32338706	GATCAGAA	G	T32338708C	BRCA2	NM_000059.3(BRCA2):c.4353_4359del:p.Pro1454fs	coding	Pathogenic
13	32338714	AC	A	C32338716A	BRCA2	NM_000059.4(BRCA2):c.4361del:p.Pro1454fs	coding	Pathogenic
13	32338729	TA	T	A32338731C	BRCA2	NM_000059.3(BRCA2):c.4376del:p.Asn1459fs	coding	Pathogenic
13	32338732	CTT	C	T32338735C	BRCA2	NM_000059.3(BRCA2):c.4380_4381del:p.Ser1461fs	coding	Pathogenic
13	32338737	CCT	C	C32338738T	BRCA2	NM_000059.3(BRCA2):c.4383_4384del:p.Leu1462fs	coding	Pathogenic
13	32338738	C	CT	A32338741T	BRCA2	NM_000059.3(BRCA2):c.4385dup:p.Leu1462fs	coding	Pathogenic
13	32338746	CTG	TT	C32338746T	BRCA2	NM_000059.3(BRCA2):c.4391_4393delinsTT:p.Ser1464fs	coding	Pathogenic
13	32338749	AATTAC	A	A32338753C	BRCA2	NM_000059.3(BRCA2):c.4398_4402del:p.Leu1466fs	coding	Pathogenic
13	32338752	T	TA	C32338754A	BRCA2	NM_000059.3(BRCA2):c.4398dup:p.His1467fs	coding	Pathogenic
13	32338756	T	TA	T32338757A	BRCA2	NM_000059.3(BRCA2):c.4401_4402insA:p.Ser1468fs	coding	Pathogenic
13	32338757	T	TA	C32338758A	BRCA2	NM_000059.3(BRCA2):c.4402_4403insA:p.Ser1468fs	coding	Pathogenic
13	32338758	C	CT	G32338760T	BRCA2	NM_000059.3(BRCA2):c.4404dup:p.Asp1469Ter	coding	Pathogenic
13	32338758	CTGACA	C	G32338760A	BRCA2	NM_000059.4(BRCA2):c.4405_4409del:p.Asp1469fs	coding	Pathogenic
13	32338762	CATAAG	C	T32338764A	BRCA2	NM_000059.3(BRCA2):c.4409_4413del:p.Ile1470fs	coding	Pathogenic
13	32338762	CAT	C	T32338764A	BRCA2	NM_000059.3(BRCA2):c.4409_4410del:p.Ile1470fs	coding	Pathogenic
13	32338763	ATAA	TT	A32338763T	BRCA2	NM_000059.4(BRCA2):c.4408_4411delinsTT:p.Ile1470fs	coding	Pathogenic
13	32338764	TAAGA	T	A32338770C	BRCA2	NM_000059.3(BRCA2):c.4411_4414AGAA[1]:p.Lys1472fs	coding	Pathogenic
13	32338767	GAA	G	A32338769G	BRCA2	NM_000059.3(BRCA2):c.4414_4415del:p.Lys1472fs	coding	Pathogenic
13	32338771	GAA	G	A32338772C	BRCA2	NM_000059.3(BRCA2):c.4417_4418del:p.Asn1473fs	coding	Pathogenic
13	32338771	GA	G	A32338773C	BRCA2	NM_000059.3(BRCA2):c.4418del:p.Asn1473fs	coding	Pathogenic
13	32338773	AC	A	C32338774A	BRCA2	NM_000059.3(BRCA2):c.4419del:p.Asn1473fs	coding	Pathogenic
13	32338774	CA	C	A32338778T	BRCA2	NM_000059.3(BRCA2):c.4423del:p.Met1475fs	coding	Pathogenic
13	32338778	A	AT	G32338780T	BRCA2	NM_000059.3(BRCA2):c.4424dup:p.Met1475fs	coding	Pathogenic
13	32338783	CA	C	A32338784T	BRCA2	NM_000059.3(BRCA2):c.4429del:p.Ile1477fs	coding	Pathogenic
13	32338787	CTAAGT	C	A32338790T	BRCA2	NM_000059.4(BRCA2):c.4435_4439del:p.Leu1478_Ser1479insTer	coding	Pathogenic
13	32338799	GA	G	A32338802C	BRCA2	NM_000059.3(BRCA2):c.4447del:p.Thr1483fs	coding	Pathogenic
13	32338801	AAC	A	C32338803G	BRCA2	NM_000059.3(BRCA2):c.4448_4449del:p.Thr1483fs	coding	Pathogenic
13	32338803	CA	C	A32338804G	BRCA2	NM_000059.3(BRCA2):c.4449del:p.Asp1484fs	coding	Pathogenic
13	32338808	ATAGT	A	G32338811A	BRCA2	NM_000059.3(BRCA2):c.4456_4459del:p.Val1486fs	coding	Pathogenic
13	32338811	GT	G	T32338813A	BRCA2	NM_000059.3(BRCA2):c.4458del:p.Lys1487fs	coding	Pathogenic
13	32338813	TAA	T	A32338815C	BRCA2	NM_000059.3(BRCA2):c.4460_4461del:p.Lys1487fs	coding	Pathogenic
13	32338813	T	TA	C32338817A	BRCA2	NM_000059.3(BRCA2):c.4461dup:p.His1488fs	coding	Pathogenic
13	32338815	AAC	A	C32338819A	BRCA2	NM_000059.3(BRCA2):c.4462_4463CA[1]:p.His1488fs	coding	Pathogenic
13	32338822	AATACTGA	TGTTTTT	A32338822T	BRCA2	NM_000059.4(BRCA2):c.4467_4474delinsTGTTTTT:p.Lys1489fs	coding	Pathogenic
13	32338824	TACTG	T	C32338826A	BRCA2	NM_000059.3(BRCA2):c.4471_4474del:p.Leu1491fs	coding	Pathogenic
13	32338824	T	TA	C32338826A	BRCA2	NM_000059.3(BRCA2):c.4470dup:p.Leu1491fs	coding	Pathogenic
13	32338826	CTGAA	C	T32338827A	BRCA2	NM_000059.3(BRCA2):c.4472_4475del:p.Leu1491fs	coding	Pathogenic
13	32338827	TGAAA	T	A32338833T	BRCA2	NM_000059.3(BRCA2):c.4474_4477AAAG[1]:p.Glu1493fs	coding	Pathogenic
13	32338828	GA	G	A32338831G	BRCA2	NM_000059.3(BRCA2):c.4476del:p.Glu1493fs	coding	Pathogenic
13	32338828	G	GA	G32338832A	BRCA2	NM_000059.3(BRCA2):c.4476dup:p.Glu1493fs	coding	Pathogenic
13	32338830	AAG	A	G32338832A	BRCA2	NM_000059.3(BRCA2):c.4477_4478del:p.Glu1493fs	coding	Pathogenic
13	32338832	G	GA	G32338836A	BRCA2	NM_000059.3(BRCA2):c.4480dup:p.Ser1494fs	coding	Pathogenic
13	32338835	AGT	A	G32338838C	BRCA2	NM_000059.3(BRCA2):c.4481_4482GT[1]:p.Val1495fs	coding	Pathogenic
13	32338860	A	AT	A32338861T	BRCA2	NM_000059.3(BRCA2):c.4505_4506insT:p.Gln1502fs	coding	Pathogenic
13	32338861	A	AT	C32338862T	BRCA2	NM_000059.4(BRCA2):c.4506_4507insT:p.Leu1503fs	coding	Pathogenic
13	32338866	TGACCTTCCAGG	T	C32338870A	BRCA2	NM_000059.3(BRCA2):c.4515_4525del:p.Phe1506fs	coding	Pathogenic
13	32338867	GA	G	A32338868C	BRCA2	NM_000059.3(BRCA2):c.4513del:p.Thr1505fs	coding	Pathogenic
13	32338872	TC	T	C32338874A	BRCA2	NM_000059.3(BRCA2):c.4519del:p.Gln1507fs	coding	Pathogenic
13	32338875	A	AG	A32338879G	BRCA2	NM_000059.4(BRCA2):c.4523dup:p.Gln1509fs	coding	Pathogenic
13	32338882	AC	A	C32338885G	BRCA2	NM_000059.3(BRCA2):c.4530del:p.Glu1511fs	coding	Pathogenic
13	32338886	GA	G	A32338888C	BRCA2	NM_000059.3(BRCA2):c.4533del:p.Glu1511fs	coding	Pathogenic
13	32338889	CG	C	G32338890T	BRCA2	NM_000059.3(BRCA2):c.4535del:p.Arg1512fs	coding	Pathogenic
13	32338890	G	GTGAT	G32338895T	BRCA2	NM_000059.3(BRCA2):c.4536_4539dup:p.Glu1514Ter	coding	Pathogenic
13	32338891	T	TGATC	G32338895C	BRCA2	NM_000059.3(BRCA2):c.4539_4540insCGAT:p.Glu1514delinsArgTer	coding	Pathogenic
13	32338895	GA	G	A32338899G	BRCA2	NM_000059.3(BRCA2):c.4544del:p.Lys1515fs	coding	Pathogenic
13	32338895	G	GA	G32338900A	BRCA2	NM_000059.3(BRCA2):c.4544dup:p.Ile1516fs	coding	Pathogenic
13	32338895	G	GCGAT	A32338896C	BRCA2	NM_000059.3(BRCA2):c.4540_4541insCGAT:p.Glu1514fs	coding	Pathogenic
13	32338900	G	GA	T32338902A	BRCA2	NM_000059.3(BRCA2):c.4546dupA:p.Ile1516Asnfs	coding	Pathogenic
13	32338902	TCA	T	C32338903A	BRCA2	NM_000059.3(BRCA2):c.4548_4549del:p.Lys1517fs	coding	Pathogenic
13	32338903	CAAAGAACCTACTCTATTGGGTTTTCATACAGCTAGCGGGAAAA	C	A32338906G	BRCA2	NM_000059.3(BRCA2):c.4551_4593del:p.Glu1518fs	coding	Pathogenic
13	32338903	CAAAG	C	A32338906C	BRCA2	NM_000059.3(BRCA2):c.4551_4554del:p.Lys1517fs	coding	Pathogenic
13	32338906	AG	A	G32338907A	BRCA2	NM_000059.3(BRCA2):c.4552del:p.Glu1518fs	coding	Pathogenic
13	32338907	GA	G	A32338909C	BRCA2	NM_000059.3(BRCA2):c.4554del:p.Glu1518fs	coding	Pathogenic
13	32338909	AC	A	C32338911T	BRCA2	NM_000059.3(BRCA2):c.4556del:p.Pro1519fs	coding	Pathogenic
13	32338916	CTA	C	A32338918T	BRCA2	NM_000059.3(BRCA2):c.4563_4564del:p.Leu1522fs	coding	Pathogenic
13	32338924	TTTTC	T	T32338925A	BRCA2	NM_000059.3(BRCA2):c.4570_4573del:p.Phe1524fs	coding	Pathogenic/Likely_pathogenic
13	32338930	T	TA	C32338932A	BRCA2	NM_000059.3(BRCA2):c.4576dup:p.Thr1526fs	coding	Pathogenic
13	32338939	C	CG	A32338943G	BRCA2	NM_000059.3(BRCA2):c.4587dup:p.Lys1530fs	coding	Pathogenic
13	32338942	GAA	G	A32338947G	BRCA2	NM_000059.3(BRCA2):c.4592_4593del:p.Lys1531fs	coding	Pathogenic
13	32338942	GA	G	A32338948G	BRCA2	NM_000059.3(BRCA2):c.4593del:p.Val1532fs	coding	Pathogenic
13	32338942	G	GA	G32338949A	BRCA2	NM_000059.3(BRCA2):c.4593dupA:p.Val1532Serfs	coding	Pathogenic
13	32338946	AAAGTT	A	G32338949A	BRCA2	NM_000059.3(BRCA2):c.4594_4598del:p.Val1532fs	coding	Pathogenic
13	32338947	AAG	A	A32338948T	BRCA2	NM_000059.4(BRCA2):c.4593_4594del:p.Lys1531fs	coding	Pathogenic
13	32338947	AAGTT	A	G32338949A	BRCA2	NM_000059.3(BRCA2):c.4594_4597del:p.Val1532fs	coding	Pathogenic
13	32338951	T	TA	T32338956A	BRCA2	NM_000059.3(BRCA2):c.4600dup:p.Ile1534fs	coding	Pathogenic
13	32338968	CTT	C	T32338970G	BRCA2	NM_000059.3(BRCA2):c.4615_4616del:p.Leu1539fs	coding	Pathogenic
13	32338973	GACAAA	G	A32338974G	BRCA2	NM_000059.3(BRCA2):c.4619_4623del:p.Asp1540fs	coding	Pathogenic
13	32338979	GT	G	T32338980G	BRCA2	NM_000059.3(BRCA2):c.4625del:p.Val1542fs	coding	Pathogenic
13	32338981	GA	G	A32338986C	BRCA2	NM_000059.3(BRCA2):c.4631del:p.Asn1544fs	coding	Pathogenic
13	32338981	G	GA	C32338987A	BRCA2	NM_000059.3(BRCA2):c.4631dupA:p.Asn1544Lysfs	coding	Pathogenic
13	32338986	AC	A	C32338988T	BRCA2	NM_000059.3(BRCA2):c.4633del:p.Leu1545fs	coding	Pathogenic
13	32338988	C	CT	G32338994T	BRCA2	NM_000059.3(BRCA2):c.4638dup:p.Asp1547Ter	coding	Pathogenic
13	32338988	CT	C	T32338993G	BRCA2	NM_000059.3(BRCA2):c.4638del:p.Phe1546fs	coding	Pathogenic
13	32338993	TGA	GG	T32338993G	BRCA2	NM_000059.3(BRCA2):c.4638_4640delinsGG:p.Phe1546fs	coding	Pathogenic
13	32338995	AT	A	T32338996G	BRCA2	NM_000059.4(BRCA2):c.4641del:p.Asp1547fs	coding	Pathogenic
13	32339001	AAG	A	A32339004C	BRCA2	NM_000059.4(BRCA2):c.4647_4648AG[1]:p.Glu1550fs	coding	Pathogenic
13	32339001	AAGAG	A	A32339002C	BRCA2	NM_000059.3(BRCA2):c.4647_4650del:p.Lys1549fs	coding	Pathogenic
13	32339007	AAGGT	A	G32339009C	BRCA2	NM_000059.3(BRCA2):c.4654_4657del:p.Gly1552fs	coding	Pathogenic
13	32339028	GT	G	T32339032A	BRCA2	NM_000059.3(BRCA2):c.4677del:p.Phe1559fs	coding	Pathogenic
13	32339045	G	GC	A32339047C	BRCA2	NM_000059.3(BRCA2):c.4691dup:p.Thr1566fs	coding	Pathogenic
13	32339046	CA	C	A32339049G	BRCA2	NM_000059.3(BRCA2):c.4694del:p.Lys1565fs	coding	Pathogenic
13	32339049	A	AGACC	C32339054G	BRCA2	NM_000059.3(BRCA2):c.4695_4698dup:p.Leu1567fs	coding	Pathogenic
13	32339054	C	CT	A32339056T	BRCA2	NM_000059.3(BRCA2):c.4700dup:p.Tyr1569fs	coding	Pathogenic
13	32339060	TAC	T	C32339062G	BRCA2	NM_000059.3(BRCA2):c.4707_4708del:p.Tyr1569_Arg1570delinsTer	coding	Pathogenic
13	32339062	CAGAGAGGCCTGTAA	C	G32339066C	BRCA2	NM_000059.4(BRCA2):c.4711_4724del:p.Glu1571fs	coding	Pathogenic
13	32339062	CAG	C	A32339067G	BRCA2	NM_000059.4(BRCA2):c.4708_4709AG[2]:p.Glu1571fs	coding	Pathogenic
13	32339064	GA	G	A32339065G	BRCA2	NM_000059.3(BRCA2):c.4710del:p.Glu1571fs	coding	Pathogenic
13	32339074	TA	T	A32339077G	BRCA2	NM_000059.4(BRCA2):c.4722del:p.Asp1575fs	coding	Pathogenic
13	32339074	T	TA	G32339078A	BRCA2	NM_000059.3(BRCA2):c.4722dup:p.Asp1575fs	coding	Pathogenic
13	32339075	AAAGAC	A	A32339076C	BRCA2	NM_000059.4(BRCA2):c.4721_4725del:p.Lys1574fs	coding	Pathogenic
13	32339077	AG	A	G32339078A	BRCA2	NM_000059.3(BRCA2):c.4723del:p.Asp1575fs	coding	Pathogenic
13	32339084	GA	G	A32339086T	BRCA2	NM_000059.3(BRCA2):c.4731del:p.Glu1577fs	coding	Pathogenic
13	32339084	G	GA	T32339087A	BRCA2	NM_000059.3(BRCA2):c.4731dup:p.Leu1578fs	coding	Pathogenic
13	32339086	ATTAGC	G	A32339086G	BRCA2	NM_000059.4(BRCA2):c.4731_4736delinsG:p.Leu1578fs	coding	Pathogenic
13	32339092	A	ATG	A32339097T	BRCA2	NM_000059.3(BRCA2):c.4738_4739TG[3]:p.Glu1581fs	coding	Pathogenic
13	32339093	T	TG	T32339095G	BRCA2	NM_000059.3(BRCA2):c.4739dup:p.Cys1580fs	coding	Pathogenic
13	32339096	G	AA	G32339096A	BRCA2	NM_000059.3(BRCA2):c.4741delinsAA:p.Glu1581fs	coding	Pathogenic
13	32339097	A	ATG	G32339098T	BRCA2	NM_000059.3(BRCA2):c.4742_4743insTG:p.Glu1581fs	coding	Pathogenic
13	32339102	AT	A	T32339104G	BRCA2	NM_000059.3(BRCA2):c.4749del:p.Ile1583fs	coding	Pathogenic
13	32339117	GC	G	C32339121A	BRCA2	NM_000059.3(BRCA2):c.4766del:p.Pro1589fs	coding	Pathogenic
13	32339121	CAA	C	A32339123G	BRCA2	NM_000059.4(BRCA2):c.4768_4769del:p.Lys1590fs	coding	Pathogenic
13	32339121	CA	C	A32339124G	BRCA2	NM_000059.3(BRCA2):c.4769del:p.Lys1590fs	coding	Pathogenic
13	32339124	AGT	A	G32339127A	BRCA2	NM_000059.4(BRCA2):c.4770_4771GT[1]:p.Lys1590_Cys1591insTer	coding	Pathogenic
13	32339132	GA	G	A32339135T	BRCA2	NM_000059.3(BRCA2):c.4780del:p.Met1594fs	coding	Pathogenic
13	32339140	GA	G	A32339142T	BRCA2	NM_000059.3(BRCA2):c.4787del:p.Asn1596fs	coding	Pathogenic
13	32339147	CTCAA	C	C32339149A	BRCA2	NM_000059.3(BRCA2):c.4794_4797del:p.Asn1599fs	coding	Pathogenic
13	32339151	AT	A	T32339152A	BRCA2	NM_000059.3(BRCA2):c.4797del:p.Asn1599fs	coding	Pathogenic
13	32339152	TA	T	A32339154T	BRCA2	NM_000059.3(BRCA2):c.4799del:p.Asn1600fs	coding	Pathogenic
13	32339157	A	AT	A32339159T	BRCA2	NM_000059.4(BRCA2):c.4803dup:p.Lys1602Ter	coding	Pathogenic
13	32339158	TA	T	A32339163C	BRCA2	NM_000059.3(BRCA2):c.4808del:p.Asn1603fs	coding	Pathogenic
13	32339158	T	TA	C32339164A	BRCA2	NM_000059.3(BRCA2):c.4808dupA:p.Asn1603Lysfs	coding	Pathogenic
13	32339163	A	AC	T32339166C	BRCA2	NM_000059.3(BRCA2):c.4810dup:p.Leu1604fs	coding	Pathogenic
13	32339164	C	CA	C32339165A	BRCA2	NM_000059.3(BRCA2):c.4809_4810insA:p.Leu1604fs	coding	Pathogenic
13	32339169	TTTCTA	T	C32339172G	BRCA2	NM_000059.4(BRCA2):c.4817_4821del:p.Val1605_Ser1606insTer	coding	Pathogenic
13	32339175	TTG	T	T32339176A	BRCA2	NM_000059.3(BRCA2):c.4821_4822del:p.Glu1608fs	coding	Pathogenic
13	32339176	TGA	C	T32339176C	BRCA2	NM_000059.4(BRCA2):c.4821_4823delinsC:p.Glu1608fs	coding	Pathogenic
13	32339176	TGA	T	G32339179C	BRCA2	NM_000059.3(BRCA2):c.4822_4823GA[1]:p.Glu1608fs	coding	Pathogenic
13	32339181	CTG	C	T32339184G	BRCA2	NM_000059.4(BRCA2):c.4827_4828TG[1]:p.Val1610fs	coding	Pathogenic
13	32339182	T	TG	T32339184G	BRCA2	NM_000059.3(BRCA2):c.4828dup:p.Val1610fs	coding	Pathogenic
13	32339197	GCT	G	C32339200T	BRCA2	NM_000059.3(BRCA2):c.4843_4844CT[1]:p.Leu1616fs	coding	Pathogenic
13	32339201	TTAAG	T	A32339203G	BRCA2	NM_000059.3(BRCA2):c.4848_4851del:p.Ser1617fs	coding	Pathogenic
13	32339202	TAA	T	A32339203G	BRCA2	NM_000059.3(BRCA2):c.4848_4849del:p.Leu1616_Ser1617insTer	coding	Pathogenic
13	32339208	A	GCTCT	A32339208G	BRCA2	NM_000059.3(BRCA2):c.4853delinsGCTCT:p.Asp1618fs	coding	Pathogenic
13	32339212	TTTATGTAGACAAACTGAAAA	T	T32339214C	BRCA2	NM_000059.3(BRCA2):c.4859_4878del:p.Leu1620fs	coding	Pathogenic
13	32339228	GAA	G	A32339231T	BRCA2	NM_000059.4(BRCA2):c.4876_4877del:p.Asn1626fs	coding	Pathogenic
13	32339228	G	GA	T32339233A	BRCA2	NM_000059.3(BRCA2):c.4877dup:p.Asn1626fs	coding	Pathogenic
13	32339236	CAA	C	A32339239C	BRCA2	NM_000059.3(BRCA2):c.4884_4885del:p.Lys1628fs	coding	Pathogenic
13	32339244	CA	C	A32339249G	BRCA2	NM_000059.3(BRCA2):c.4894del:p.Ser1632fs	coding	Pathogenic
13	32339247	AAAGTATCTTTTTGAAAGTTAAAGTACATGAAAATGTAGAAAAAG	A	G32339250A	BRCA2	NM_000059.3(BRCA2):c.4895_4938del:p.Ser1632fs	coding	Pathogenic
13	32339248	AAG	A	A32339249T	BRCA2	NM_000059.3(BRCA2):c.4894_4895del:p.Ser1632fs	coding	Pathogenic
13	32339252	ATC	A	C32339254T	BRCA2	NM_000059.3(BRCA2):c.4899_4900del:p.Leu1635fs	coding	Pathogenic
13	32339254	C	CT	G32339260T	BRCA2	NM_000059.3(BRCA2):c.4904dup:p.Leu1635fs	coding	Pathogenic
13	32339254	CTT	C	T32339258G	BRCA2	NM_000059.4(BRCA2):c.4903_4904del:p.Leu1635fs	coding	Pathogenic
13	32339263	AG	A	G32339264T	BRCA2	NM_000059.3(BRCA2):c.4909del:p.Val1637fs	coding	Pathogenic
13	32339266	T	TA	G32339270A	BRCA2	NM_000059.3(BRCA2):c.4914dup:p.Val1639fs	coding	Pathogenic
13	32339271	TA	T	A32339272C	BRCA2	NM_000059.3(BRCA2):c.4917del:p.His1640fs	coding	Pathogenic
13	32339275	TGAAA	T	G32339276A	BRCA2	NM_000059.3(BRCA2):c.4921_4924del:p.Glu1641fs	coding	Pathogenic
13	32339276	GAAAATGTAGA	G	T32339281G	BRCA2	NM_000059.3(BRCA2):c.4926_4935del:p.Asn1642fs	coding	Pathogenic
13	32339280	ATG	A	G32339282A	BRCA2	NM_000059.4(BRCA2):c.4927_4928del:p.Val1643fs	coding	Pathogenic
13	32339283	TAGAAAAAG	T	G32339285A	BRCA2	NM_000059.3(BRCA2):c.4930_4937del:p.Glu1644fs	coding	Pathogenic
13	32339285	GA	G	A32339290G	BRCA2	NM_000059.3(BRCA2):c.4935del:p.Glu1646fs	coding	Pathogenic
13	32339287	AAAAG	A	G32339291C	BRCA2	NM_000059.3(BRCA2):c.4936_4939del:p.Glu1646fs	coding	Pathogenic
13	32339289	AAG	A	G32339291A	BRCA2	NM_000059.3(BRCA2):c.4936_4937del:p.Glu1646fs	coding	Pathogenic
13	32339290	AG	A	G32339291A	BRCA2	NM_000059.3(BRCA2):c.4936del:p.Glu1646fs	coding	Pathogenic
13	32339290	AG	T	A32339290T	BRCA2	NM_000059.4(BRCA2):c.4935_4936delinsT:p.Lys1645fs	coding	Pathogenic
13	32339291	G	GA	C32339295A	BRCA2	NM_000059.3(BRCA2):c.4939dup:p.Thr1647fs	coding	Pathogenic
13	32339293	AAC	A	C32339295G	BRCA2	NM_000059.3(BRCA2):c.4940_4941del:p.Thr1647fs	coding	Pathogenic
13	32339294	AC	A	C32339295A	BRCA2	NM_000059.3(BRCA2):c.4940del:p.Thr1647fs	coding	Pathogenic
13	32339298	CAA	C	A32339302G	BRCA2	NM_000059.3(BRCA2):c.4947_4948del:p.Pro1651fs	coding	Pathogenic
13	32339303	AG	A	G32339304T	BRCA2	NM_000059.3(BRCA2):c.4949del:p.Ser1650fs	coding	Pathogenic
13	32339305	TC	T	C32339307T	BRCA2	NM_000059.3(BRCA2):c.4952del:p.Pro1651fs	coding	Pathogenic
13	32339313	C	CT	G32339316T	BRCA2	NM_000059.3(BRCA2):c.4960dup:p.Cys1654fs	coding	Pathogenic
13	32339316	GT	G	T32339318A	BRCA2	NM_000059.4(BRCA2):c.4963del:p.Tyr1655fs	coding	Pathogenic
13	32339318	T	TA	C32339320A	BRCA2	NM_000059.3(BRCA2):c.4964dup:p.Tyr1655Ter	coding	Pathogenic
13	32339319	AC	A	C32339320A	BRCA2	NM_000059.3(BRCA2):c.4965del:p.Cys1654_Tyr1655insTer	coding	Pathogenic
13	32339320	C	GA	C32339320G	BRCA2	NM_000059.3(BRCA2):c.4965delinsGA:p.Tyr1655Ter	coding	Pathogenic
13	32339328	AG	A	G32339329T	BRCA2	NM_000059.3(BRCA2):c.4974del:p.Gln1658fs	coding	Pathogenic
13	32339330	T	TG	C32339331G	BRCA2	NM_000059.3(BRCA2):c.4975_4976insG:p.Ser1659fs	coding	Pathogenic
13	32339331	C	CG	C32339332G	BRCA2	NM_000059.3(BRCA2):c.4976_4977insG:p.Tyr1661fs	coding	Pathogenic
13	32339334	C	CTT	A32339337T	BRCA2	NM_000059.3(BRCA2):c.4980_4981dup:p.Tyr1661fs	coding	Pathogenic
13	32339334	CT	C	T32339336A	BRCA2	NM_000059.3(BRCA2):c.4981del:p.Tyr1661fs	coding	Pathogenic
13	32339335	T	TG	T32339336G	BRCA2	NM_000059.3(BRCA2):c.4980_4981insG:p.Tyr1661fs	coding	Pathogenic
13	32339336	T	TG	A32339337G	BRCA2	NM_000059.3(BRCA2):c.4981_4982insG:p.Tyr1661Ter	coding	Pathogenic
13	32339338	TTCAG	T	G32339342T	BRCA2	NM_000059.3(BRCA2):c.4987_4990del:p.Val1663fs	coding	Pathogenic
13	32339344	CAT	C	A32339345T	BRCA2	NM_000059.3(BRCA2):c.4990_4991del:p.Val1663_Ile1664insTer	coding	Pathogenic
13	32339352	A	AT	C32339355T	BRCA2	NM_000059.3(BRCA2):c.4999dup:p.Ser1667fs	coding	Pathogenic
13	32339359	CT	C	T32339361A	BRCA2	NM_000059.4(BRCA2):c.5006del:p.Ala1668_Leu1669insTer	coding	Pathogenic
13	32339364	C	CT	A32339370T	BRCA2	NM_000059.3(BRCA2):c.5014dup:p.Tyr1672fs	coding	Pathogenic
13	32339371	C	CA	C32339373A	BRCA2	NM_000059.4(BRCA2):c.5017dup:p.Thr1673fs	coding	Pathogenic
13	32339385	GAA	G	A32339389C	BRCA2	NM_000059.3(BRCA2):c.5034_5035del:p.Lys1678fs	coding	Pathogenic
13	32339385	GA	G	A32339390C	BRCA2	NM_000059.3(BRCA2):c.5035del:p.Thr1679fs	coding	Pathogenic
13	32339385	G	GA	C32339391A	BRCA2	NM_000059.3(BRCA2):c.5035dup:p.Thr1679fs	coding	Pathogenic
13	32339392	TTC	T	C32339394G	BRCA2	NM_000059.3(BRCA2):c.5039_5040del:p.Ser1680fs	coding	Pathogenic
13	32339394	CTG	C	T32339397A	BRCA2	NM_000059.3(BRCA2):c.5040_5041TG[1]:p.Val1681fs	coding	Pathogenic
13	32339399	AG	A	G32339400T	BRCA2	NM_000059.3(BRCA2):c.5045del:p.Ser1682fs	coding	Pathogenic
13	32339402	CAGACTTCATTACTTGA	C	A32339405C	BRCA2	NM_000059.3(BRCA2):c.5050_5065del:p.Thr1684fs	coding	Pathogenic
13	32339402	CAG	C	G32339404C	BRCA2	NM_000059.3(BRCA2):c.5049_5050del:p.Gln1683fs	coding	Pathogenic
13	32339420	GC	AAA	G32339420A	BRCA2	NM_000059.4(BRCA2):c.5065_5066delinsAAA:p.Ala1689fs	coding	Pathogenic
13	32339421	CAAAA	C	A32339425T	BRCA2	NM_000059.3(BRCA2):c.5070_5073del:p.Lys1690fs	coding	Pathogenic
13	32339421	CA	C	A32339428T	BRCA2	NM_000059.3(BRCA2):c.5073del:p.Lys1691fs	coding	Pathogenic
13	32339421	C	CA	T32339429A	BRCA2	NM_000059.3(BRCA2):c.5073dupA:p.Trp1692Metfs	coding	Pathogenic
13	32339429	TG	T	G32339431C	BRCA2	NM_000059.3(BRCA2):c.5076del:p.Trp1692fs	coding	Pathogenic
13	32339429	T	TA	G32339430A	BRCA2	NM_000059.4(BRCA2):c.5074_5075insA:p.Trp1692Ter	coding	Pathogenic
13	32339438	G	GA	G32339441A	BRCA2	NM_000059.3(BRCA2):c.5085dup:p.Gly1696fs	coding	Pathogenic
13	32339441	G	GA	G32339442A	BRCA2	NM_000059.3(BRCA2):c.5086_5087insA:p.Gly1696fs	coding	Pathogenic
13	32339460	CAGAA	C	A32339465T	BRCA2	NM_000059.3(BRCA2):c.5106_5109AGAA[1]:p.Glu1703_Arg1704insTer	coding	Pathogenic
13	32339462	GA	G	A32339465G	BRCA2	NM_000059.3(BRCA2):c.5110del:p.Arg1704fs	coding	Pathogenic
13	32339466	GAATA	G	A32339471C	BRCA2	NM_000059.3(BRCA2):c.5112_5115AATA[1]:p.Asn1706fs	coding	Pathogenic
13	32339469	TAAATA	T	A32339470C	BRCA2	NM_000059.3(BRCA2):c.5115_5119del:p.Asn1706fs	coding	Pathogenic
13	32339470	AAATA	G	A32339470G	BRCA2	NM_000059.4(BRCA2):c.5115_5119delinsG:p.Ile1705fs	coding	Pathogenic
13	32339473	TACTG	T	A32339474C	BRCA2	NM_000059.3(BRCA2):c.5119_5122del:p.Thr1707fs	coding	Pathogenic
13	32339473	T	TA	C32339475A	BRCA2	NM_000059.3(BRCA2):c.5119dup:p.Thr1707fs	coding	Pathogenic
13	32339474	AC	A	C32339475T	BRCA2	NM_000059.3(BRCA2):c.5120del:p.Thr1707fs	coding	Pathogenic
13	32339478	CAGATT	C	G32339480T	BRCA2	NM_000059.3(BRCA2):c.5125_5129del:p.Asp1709fs	coding	Pathogenic
13	32339482	TTATG	T	T32339485G	BRCA2	NM_000059.3(BRCA2):c.5130_5133del:p.Asp1709_Tyr1710insTer	coding	Pathogenic
13	32339484	AT	A	T32339485G	BRCA2	NM_000059.3(BRCA2):c.5130del:p.Asp1709_Tyr1710insTer	coding	Pathogenic
13	32339485	TGTAG	T	T32339487A	BRCA2	NM_000059.3(BRCA2):c.5132_5135del:p.Val1711fs	coding	Pathogenic
13	32339485	TG	T	G32339486T	BRCA2	NM_000059.3(BRCA2):c.5131del:p.Tyr1710_Val1711insTer	coding	Pathogenic
13	32339490	GA	G	A32339493T	BRCA2	NM_000059.3(BRCA2):c.5138del:p.Asn1713fs	coding	Pathogenic
13	32339493	ATTAT	A	A32339496G	BRCA2	NM_000059.3(BRCA2):c.5141_5144del:p.Tyr1714fs	coding	Pathogenic
13	32339498	TTGTA	T	T32339501A	BRCA2	NM_000059.3(BRCA2):c.5146_5149del:p.Tyr1716fs	coding	Pathogenic
13	32339503	TG	T	G32339504A	BRCA2	NM_000059.3(BRCA2):c.5149del:p.Glu1717fs	coding	Pathogenic
13	32339508	ATAATT	A	T32339509C	BRCA2	NM_000059.3(BRCA2):c.5154_5158del:p.Asn1719fs	coding	Pathogenic
13	32339509	TAATTC	T	T32339512A	BRCA2	NM_000059.3(BRCA2):c.5157_5161del:p.Asn1719fs	coding	Pathogenic
13	32339510	AATTC	A	T32339512A	BRCA2	NM_000059.3(BRCA2):c.5157_5160del:p.Asn1719fs	coding	Pathogenic
13	32339511	A	AT	C32339514T	BRCA2	NM_000059.3(BRCA2):c.5158dupT:p.Ser1720Phefs	coding	Pathogenic
13	32339513	TCAAA	T	A32339516G	BRCA2	NM_000059.3(BRCA2):c.5161_5164del:p.Asn1721fs	coding	Pathogenic
13	32339514	CA	C	A32339517C	BRCA2	NM_000059.3(BRCA2):c.5162del:p.Asn1721fs	coding	Pathogenic
13	32339515	AAACAGTAC	TACAA	A32339515T	BRCA2	NM_000059.3(BRCA2):c.5160_5168delinsTACAA:p.Asn1721fs	coding	Pathogenic
13	32339516	A	AACAGT	T32339524A	BRCA2	NM_000059.3(BRCA2):c.5164_5168dup:p.Ile1724fs	coding	Pathogenic
13	32339518	CAG	C	A32339519T	BRCA2	NM_000059.3(BRCA2):c.5164_5165del:p.Ser1722fs	coding	Pathogenic
13	32339520	G	GT	A32339522T	BRCA2	NM_000059.3(BRCA2):c.5166dup:p.Thr1723fs	coding	Pathogenic
13	32339523	C	CTA	G32339528T	BRCA2	NM_000059.3(BRCA2):c.5169_5170TA[3]:p.Ala1725Ter	coding	Pathogenic
13	32339524	T	TA	T32339526A	BRCA2	NM_000059.3(BRCA2):c.5170dup:p.Ile1724fs	coding	Pathogenic
13	32339525	AT	A	T32339526A	BRCA2	NM_000059.3(BRCA2):c.5171del:p.Ile1724fs	coding	Pathogenic
13	32339531	GA	G	A32339535T	BRCA2	NM_000059.3(BRCA2):c.5180del:p.Asn1727fs	coding	Pathogenic
13	32339531	G	GA	T32339536A	BRCA2	NM_000059.3(BRCA2):c.5180dup:p.Asn1727fs	coding	Pathogenic
13	32339537	GAC	G	C32339539A	BRCA2	NM_000059.3(BRCA2):c.5184_5185del:p.Asp1728fs	coding	Pathogenic
13	32339539	CA	C	A32339544T	BRCA2	NM_000059.3(BRCA2):c.5189del:p.Asn1730fs	coding	Pathogenic
13	32339545	TC	T	C32339546A	BRCA2	NM_000059.3(BRCA2):c.5191del:p.His1731fs	coding	Pathogenic
13	32339546	CAT	C	A32339547C	BRCA2	NM_000059.3(BRCA2):c.5192_5193del:p.His1731fs	coding	Pathogenic
13	32339547	ATC	A	T32339552C	BRCA2	NM_000059.4(BRCA2):c.5197_5198del:p.Ser1733fs	coding	Pathogenic
13	32339549	CT	C	T32339550C	BRCA2	NM_000059.3(BRCA2):c.5195del:p.Leu1732fs	coding	Pathogenic
13	32339551	C	CT	C32339553T	BRCA2	NM_000059.3(BRCA2):c.5197dup:p.Ser1733fs	coding	Pathogenic
13	32339552	T	TCC	G32339555C	BRCA2	NM_000059.3(BRCA2):c.5198_5199dup:p.Glu1734fs	coding	Pathogenic
13	32339554	C	CG	A32339556G	BRCA2	NM_000059.3(BRCA2):c.5200dup:p.Glu1734fs	coding	Pathogenic/Likely_pathogenic
13	32339555	GA	G	A32339560C	BRCA2	NM_000059.3(BRCA2):c.5205del:p.Lys1735fs	coding	Pathogenic
13	32339555	G	GA	C32339561A	BRCA2	NM_000059.3(BRCA2):c.5205dup:p.Gln1736fs	coding	Pathogenic
13	32339556	AAAAA	GAAAAG	A32339556G	BRCA2	NM_000059.3(BRCA2):c.5201_5205delinsGAAAAG:p.Glu1734fs	coding	Pathogenic
13	32339557	AAAAC	A	A32339560G	BRCA2	NM_000059.3(BRCA2):c.5205_5208del:p.Gln1736fs	coding	Pathogenic
13	32339561	CAA	C	A32339562G	BRCA2	NM_000059.3(BRCA2):c.5207_5208del:p.Gln1736fs	coding	Pathogenic
13	32339561	CA	C	A32339563G	BRCA2	NM_000059.3(BRCA2):c.5208del:p.Asp1737fs	coding	Pathogenic
13	32339561	C	CAAGATACTTATTTAAGTAACAGTAGCATGTCTAACAGCTATTCCTACCATTCTGATGAGGTATAT	T32339629G	BRCA2	NM_000059.3(BRCA2):c.5209_5273dup:p.Asn1758delinsLysIleLeuIleTer	coding	Pathogenic
13	32339565	ATACT	A	C32339568T	BRCA2	NM_000059.3(BRCA2):c.5213_5216del:p.Thr1738fs	coding	Pathogenic
13	32339566	T	TA	C32339568A	BRCA2	NM_000059.3(BRCA2):c.5212dup:p.Thr1738fs	coding	Pathogenic
13	32339567	AC	A	C32339568T	BRCA2	NM_000059.3(BRCA2):c.5213del:p.Thr1738fs	coding	Pathogenic
13	32339568	CT	C	T32339570A	BRCA2	NM_000059.3(BRCA2):c.5215del:p.Tyr1739fs	coding	Pathogenic
13	32339568	CTTAT	C	T32339572A	BRCA2	NM_000059.3(BRCA2):c.5217_5220del:p.Thr1738_Tyr1739insTer	coding	Pathogenic
13	32339569	TTATTTAAG	T	T32339572A	BRCA2	NM_000059.3(BRCA2):c.5217_5224del:p.Tyr1739_Asn1742delinsTer	coding	Pathogenic
13	32339570	TATTTAAGTAACAGTAGC	T	T32339573G	BRCA2	NM_000059.3(BRCA2):c.5218_5234del:p.Leu1740fs	coding	Pathogenic
13	32339570	TATTTA	T	T32339572G	BRCA2	NM_000059.3(BRCA2):c.5217_5221del:p.Tyr1739_Ser1741delinsTer	coding	Pathogenic
13	32339570	T	TAAA	T32339572A	BRCA2	NM_000059.4(BRCA2):c.5216_5217insAAA:p.Tyr1739Ter	coding	Pathogenic
13	32339570	T	TA	T32339572A	BRCA2	NM_000059.4(BRCA2):c.5216dup:p.Tyr1739Ter	coding	Pathogenic
13	32339571	A	AT	A32339575T	BRCA2	NM_000059.3(BRCA2):c.5219dup:p.Leu1740fs	coding	Pathogenic
13	32339571	AT	A	T32339574A	BRCA2	NM_000059.3(BRCA2):c.5219del:p.Tyr1739_Leu1740insTer	coding	Pathogenic
13	32339571	ATTTAAGT	A	T32339572A	BRCA2	NM_000059.3(BRCA2):c.5217_5223del:p.Thr1738_Tyr1739insTer	coding	Pathogenic
13	32339572	TT	A	T32339572A	BRCA2	NM_000059.3(BRCA2):c.5217_5218delinsA:p.Tyr1739_Leu1740delinsTer	coding	Pathogenic
13	32339572	TTTAAGTA	T	T32339573A	BRCA2	NM_000059.3(BRCA2):c.5218_5224del:p.Leu1740fs	coding	Pathogenic
13	32339573	TTAAG	T	G32339577C	BRCA2	NM_000059.3(BRCA2):c.5222_5225del:p.Ser1741fs	coding	Pathogenic
13	32339573	T	TTA	A32339576T	BRCA2	NM_000059.3(BRCA2):c.5219_5220dup:p.Ser1741Ter	coding	Pathogenic
13	32339574	T	TTA	A32339575T	BRCA2	NM_000059.4(BRCA2):c.5219_5220insTA:p.Leu1740fs	coding	Pathogenic
13	32339576	AGTAA	C	A32339576C	BRCA2	NM_000059.3(BRCA2):c.5221_5225delinsC:p.Ser1741fs	coding	Pathogenic
13	32339580	AC	A	C32339581A	BRCA2	NM_000059.3(BRCA2):c.5226del:p.Asn1742fs	coding	Pathogenic
13	32339583	GTAGCA	G	A32339585G	BRCA2	NM_000059.4(BRCA2):c.5230_5234del:p.Ser1744fs	coding	Pathogenic
13	32339590	G	GTC	A32339594C	BRCA2	NM_000059.3(BRCA2):c.5237_5238dup:p.Asn1747fs	coding	Pathogenic
13	32339590	GT	G	T32339591C	BRCA2	NM_000059.4(BRCA2):c.5236del:p.Ser1746fs	coding	Pathogenic
13	32339592	C	CT	A32339594T	BRCA2	NM_000059.3(BRCA2):c.5238dupT:p.Asn1747Terfs	coding	Pathogenic
13	32339594	A	AAT	C32339596T	BRCA2	NM_000059.3(BRCA2):c.5240_5241insTA:p.Ser1748fs	coding	Pathogenic
13	32339594	A	AT	A32339595T	BRCA2	NM_000059.4(BRCA2):c.5239_5240insT:p.Asn1747fs	coding	Pathogenic
13	32339595	AC	A	C32339596A	BRCA2	NM_000059.3(BRCA2):c.5241del:p.Asn1747fs	coding	Pathogenic
13	32339596	C	CTA	A32339597T	BRCA2	NM_000059.3(BRCA2):c.5241_5242insTA:p.Ser1748Ter	coding	Pathogenic
13	32339603	TC	T	C32339605T	BRCA2	NM_000059.3(BRCA2):c.5250del:p.Tyr1751fs	coding	Pathogenic
13	32339607	AC	A	C32339609A	BRCA2	NM_000059.3(BRCA2):c.5254del:p.His1752fs	coding	Pathogenic
13	32339620	GGTAT	G	G32339621A	BRCA2	NM_000059.3(BRCA2):c.5266_5269del:p.Val1756fs	coding	Pathogenic
13	32339621	GTATATAATGATTCAGGA	G	A32339625C	BRCA2	NM_000059.3(BRCA2):c.5270_5286del:p.Tyr1757fs	coding	Pathogenic
13	32339624	TATAA	T	A32339625T	BRCA2	NM_000059.3(BRCA2):c.5270_5273del:p.Tyr1757fs	coding	Pathogenic
13	32339631	A	AT	C32339634T	BRCA2	NM_000059.3(BRCA2):c.5278dup:p.Ser1760fs	coding	Pathogenic
13	32339640	ATC	A	T32339645A	BRCA2	NM_000059.3(BRCA2):c.5286_5287TC[2]:p.Ser1764fs	coding	Pathogenic
13	32339646	C	CA	T32339653A	BRCA2	NM_000059.3(BRCA2):c.5297dup:p.Asn1766fs	coding	Pathogenic
13	32339649	AAAAT	A	T32339653C	BRCA2	NM_000059.3(BRCA2):c.5298_5301del:p.Lys1767fs	coding	Pathogenic
13	32339652	AT	A	T32339653A	BRCA2	NM_000059.3(BRCA2):c.5298del:p.Asn1766fs	coding	Pathogenic
13	32339657	CT	C	T32339659G	BRCA2	NM_000059.3(BRCA2):c.5304del:p.Asp1769fs	coding	Pathogenic
13	32339657	CTT	C	T32339658G	BRCA2	NM_000059.3(BRCA2):c.5303_5304del:p.Leu1768fs	coding	Pathogenic
13	32339658	TTGATTCTG	A	T32339658A	BRCA2	NM_000059.3(BRCA2):c.5303_5311delinsA:p.Leu1768fs	coding	Pathogenic
13	32339661	AT	A	T32339663C	BRCA2	NM_000059.3(BRCA2):c.5308del:p.Ser1770fs	coding	Pathogenic
13	32339680	A	AT	G32339683T	BRCA2	NM_000059.3(BRCA2):c.5327dup:p.Leu1776fs	coding	Pathogenic
13	32339683	G	GT	A32339684T	BRCA2	NM_000059.4(BRCA2):c.5328_5329insT:p.Lys1777Ter	coding	Pathogenic
13	32339684	AAGAAT	G	A32339684G	BRCA2	NM_000059.3(BRCA2):c.5329_5334delinsG:p.Lys1777fs	coding	Pathogenic
13	32339685	AGAATGTT	A	T32339689G	BRCA2	NM_000059.3(BRCA2):c.5334_5340del:p.Asn1778fs	coding	Pathogenic
13	32339692	TG	T	G32339693A	BRCA2	NM_000059.3(BRCA2):c.5338del:p.Glu1780fs	coding	Pathogenic
13	32339692	T	TG	A32339694G	BRCA2	NM_000059.3(BRCA2):c.5338dup:p.Glu1780fs	coding	Pathogenic
13	32339696	G	GA	T32339698A	BRCA2	NM_000059.3(BRCA2):c.5342dup:p.Asp1781fs	coding	Pathogenic
13	32339698	TCA	T	C32339699A	BRCA2	NM_000059.3(BRCA2):c.5344_5345del:p.Gln1782fs	coding	Pathogenic
13	32339698	TC	T	C32339699A	BRCA2	NM_000059.3(BRCA2):c.5344del:p.Gln1782fs	coding	Pathogenic
13	32339698	T	TA	C32339699A	BRCA2	NM_000059.3(BRCA2):c.5343_5344insA:p.Gln1782fs	coding	Pathogenic
13	32339699	CAA	C	A32339705C	BRCA2	NM_000059.3(BRCA2):c.5350_5351del:p.Asn1784fs	coding	Pathogenic
13	32339699	CA	C	A32339706C	BRCA2	NM_000059.3(BRCA2):c.5351del:p.Asn1784fs	coding	Pathogenic
13	32339699	C	CAA	C32339707A	BRCA2	NM_000059.3(BRCA2):c.5350_5351dup:p.Asn1784fs	coding	Pathogenic
13	32339699	C	CA	C32339707A	BRCA2	NM_000059.3(BRCA2):c.5351dupA:p.Asn1784Lysfs	coding	Pathogenic
13	32339703	AAAAC	A	A32339705C	BRCA2	NM_000059.4(BRCA2):c.5350_5353del:p.Asn1784fs	coding	Pathogenic
13	32339705	AAC	A	A32339708T	BRCA2	NM_000059.3(BRCA2):c.5351_5352AC[1]:p.Asn1784_Thr1785insTer	coding	Pathogenic
13	32339705	AA	T	A32339705T	BRCA2	NM_000059.3(BRCA2):c.5350_5351delinsT:p.Asn1784fs	coding	Pathogenic
13	32339706	A	AC	A32339708C	BRCA2	NM_000059.3(BRCA2):c.5352dup:p.Thr1785fs	coding	Pathogenic
13	32339706	AC	A	C32339707A	BRCA2	NM_000059.3(BRCA2):c.5352del:p.Asn1784fs	coding	Pathogenic
13	32339707	CA	C	A32339708C	BRCA2	NM_000059.3(BRCA2):c.5353del:p.Thr1785fs	coding	Pathogenic
13	32339707	C	CA	C32339709A	BRCA2	NM_000059.3(BRCA2):c.5353dup:p.Thr1785fs	coding	Pathogenic
13	32339709	C	CT	A32339711T	BRCA2	NM_000059.3(BRCA2):c.5355dup:p.Ser1786Ter	coding	Pathogenic
13	32339709	CTA	C	T32339710G	BRCA2	NM_000059.3(BRCA2):c.5355_5356del:p.Ser1786fs	coding	Pathogenic
13	32339711	AG	A	G32339712T	BRCA2	NM_000059.3(BRCA2):c.5357del:p.Ser1786fs	coding	Pathogenic
13	32339712	G	GT	C32339718T	BRCA2	NM_000059.3(BRCA2):c.5362dup:p.Ser1788fs	coding	Pathogenic
13	32339717	TC	A	T32339717A	BRCA2	NM_000059.3(BRCA2):c.5362_5363delinsA:p.Ser1788fs	coding	Pathogenic/Likely_pathogenic
13	32339717	T	TC	A32339720C	BRCA2	NM_000059.3(BRCA2):c.5364dup:p.Lys1789fs	coding	Pathogenic
13	32339725	AAT	A	A32339728C	BRCA2	NM_000059.3(BRCA2):c.5371_5372AT[1]:p.Ser1792fs	coding	Pathogenic
13	32339731	CA	C	A32339733T	BRCA2	NM_000059.3(BRCA2):c.5378del:p.Asn1793fs	coding	Pathogenic
13	32339733	A	ATT	G32339735T	BRCA2	NM_000059.3(BRCA2):c.5379_5380insTT:p.Val1794fs	coding	Pathogenic
13	32339733	AT	A	T32339734G	BRCA2	NM_000059.4(BRCA2):c.5379del:p.Asn1793fs	coding	Pathogenic
13	32339734	TG	T	G32339735T	BRCA2	NM_000059.3(BRCA2):c.5380del:p.Asn1793_Val1794insTer	coding	Pathogenic
13	32339736	T	TA	G32339741A	BRCA2	NM_000059.3(BRCA2):c.5385dup:p.Asp1796fs	coding	Pathogenic
13	32339739	AAG	A	G32339741T	BRCA2	NM_000059.3(BRCA2):c.5386_5387del:p.Asp1796fs	coding	Pathogenic
13	32339740	AG	A	G32339741A	BRCA2	NM_000059.3(BRCA2):c.5386del:p.Asp1796fs	coding	Pathogenic
13	32339742	A	AT	G32339744T	BRCA2	NM_000059.3(BRCA2):c.5388dup:p.Ala1797fs	coding	Pathogenic
13	32339743	TGC	T	G32339744A	BRCA2	NM_000059.3(BRCA2):c.5389_5390del:p.Ala1797fs	coding	Pathogenic
13	32339744	GC	G	C32339745A	BRCA2	NM_000059.3(BRCA2):c.5390del:p.Ala1797fs	coding	Pathogenic
13	32339756	CCA	C	C32339759A	BRCA2	NM_000059.4(BRCA2):c.5402_5403CA[1]:p.Gln1802fs	coding	Pathogenic
13	32339763	CTG	C	G32339765A	BRCA2	NM_000059.3(BRCA2):c.5410_5411del:p.Val1804fs	coding	Pathogenic
13	32339769	A	AT	G32339771T	BRCA2	NM_000059.3(BRCA2):c.5415dup:p.Glu1806Ter	coding	Pathogenic
13	32339771	G	GT	A32339772T	BRCA2	NM_000059.4(BRCA2):c.5416_5417insT:p.Glu1806fs	coding	Pathogenic
13	32339774	GAT	G	A32339777T	BRCA2	NM_000059.3(BRCA2):c.5420_5421AT[1]:p.Ile1808fs	coding	Pathogenic
13	32339777	AT	A	T32339780G	BRCA2	NM_000059.4(BRCA2):c.5425del:p.Cys1809fs	coding	Pathogenic
13	32339786	GAGGA	G	G32339788C	BRCA2	NM_000059.3(BRCA2):c.5433_5436del:p.Glu1811fs	coding	Pathogenic
13	32339789	GA	G	A32339791C	BRCA2	NM_000059.3(BRCA2):c.5436del:p.Glu1812fs	coding	Pathogenic
13	32339792	CT	C	T32339794G	BRCA2	NM_000059.3(BRCA2):c.5439del:p.Leu1813_Val1814insTer	coding	Pathogenic
13	32339795	G	GTGAC	A32339801G	BRCA2	NM_000059.3(BRCA2):c.5442_5445dup:p.Ser1816delinsAspTer	coding	Pathogenic
13	32339808	CA	C	A32339809C	BRCA2	NM_000059.3(BRCA2):c.5454del:p.Cys1820fs	coding	Pathogenic
13	32339813	T	TGC	A32339816G	BRCA2	NM_000059.3(BRCA2):c.5459_5460dup:p.Lys1821fs	coding	Pathogenic
13	32339815	CA	C	A32339820T	BRCA2	NM_000059.3(BRCA2):c.5465del:p.Asn1822fs	coding	Pathogenic
13	32339815	C	CA	T32339821A	BRCA2	NM_000059.3(BRCA2):c.5465dup:p.Asn1822fs	coding	Pathogenic
13	32339820	A	AT	A32339822T	BRCA2	NM_000059.3(BRCA2):c.5466dupT:p.Lys1823Terfs	coding	Pathogenic
13	32339821	TAA	T	A32339825T	BRCA2	NM_000059.3(BRCA2):c.5470_5471del:p.Asn1824fs	coding	Pathogenic
13	32339821	TA	T	A32339826T	BRCA2	NM_000059.3(BRCA2):c.5471del:p.Asn1824fs	coding	Pathogenic
13	32339821	T	TA	T32339827A	BRCA2	NM_000059.3(BRCA2):c.5471dup:p.Asn1824fs	coding	Pathogenic
13	32339826	A	AT	G32339828T	BRCA2	NM_000059.3(BRCA2):c.5472dup:p.Ala1825fs	coding	Pathogenic
13	32339827	T	TA	G32339828A	BRCA2	NM_000059.4(BRCA2):c.5472_5473insA:p.Ala1825fs	coding	Pathogenic
13	32339833	CATTAA	C	A32339837G	BRCA2	NM_000059.3(BRCA2):c.5482_5486del:p.Lys1828fs	coding	Pathogenic
13	32339834	ATTA	TTT	A32339834T	BRCA2	NM_000059.4(BRCA2):c.5479_5482delinsTTT:p.Ile1827fs	coding	Pathogenic
13	32339839	AT	A	T32339841G	BRCA2	NM_000059.3(BRCA2):c.5486del:p.Leu1829fs	coding	Pathogenic
13	32339846	A	AT	A32339848T	BRCA2	NM_000059.3(BRCA2):c.5492dup:p.Ser1832fs	coding	Pathogenic
13	32339850	C	CT	A32339852T	BRCA2	NM_000059.3(BRCA2):c.5496dup:p.Asn1833Ter	coding	Pathogenic
13	32339851	TA	T	A32339853T	BRCA2	NM_000059.3(BRCA2):c.5498del:p.Asn1833fs	coding	Pathogenic
13	32339878	AC	A	C32339880T	BRCA2	NM_000059.3(BRCA2):c.5525del:p.Pro1842fs	coding	Pathogenic
13	32339880	CT	C	T32339881G	BRCA2	NM_000059.3(BRCA2):c.5526del:p.Ala1843fs	coding	Pathogenic
13	32339896	CA	C	A32339897G	BRCA2	NM_000059.3(BRCA2):c.5542del:p.Ser1848fs	coding	Pathogenic
13	32339901	GTA	G	T32339902A	BRCA2	NM_000059.3(BRCA2):c.5547_5548del:p.Lys1850fs	coding	Pathogenic
13	32339902	TAA	T	A32339905T	BRCA2	NM_000059.3(BRCA2):c.5550_5551del:p.Lys1850fs	coding	Pathogenic
13	32339902	TA	T	A32339906T	BRCA2	NM_000059.3(BRCA2):c.5551del:p.Ile1851fs	coding	Pathogenic
13	32339905	AATCGTTTGTGTTTCAC	TTGGCT	A32339905T	BRCA2	NM_000059.3(BRCA2):c.5550_5566delinsTTGGCT:p.Lys1850fs	coding	Pathogenic
13	32339908	CGTTTGTG	C	G32339909T	BRCA2	NM_000059.3(BRCA2):c.5554_5560del:p.Val1852fs	coding	Pathogenic
13	32339909	G	GT	G32339913T	BRCA2	NM_000059.3(BRCA2):c.5557dup:p.Cys1853fs	coding	Pathogenic
13	32339909	GT	G	T32339912G	BRCA2	NM_000059.3(BRCA2):c.5557del:p.Cys1853fs	coding	Pathogenic
13	32339911	TTG	T	G32339915T	BRCA2	NM_000059.3(BRCA2):c.5558_5559GT[1]:p.Val1854fs	coding	Pathogenic
13	32339923	TGAAAC	T	G32339924A	BRCA2	NM_000059.4(BRCA2):c.5569_5573del:p.Glu1857fs	coding	Pathogenic
13	32339928	CAATT	C	T32339931A	BRCA2	NM_000059.4(BRCA2):c.5576_5579del:p.Ile1859fs	coding	Pathogenic
13	32339930	AT	A	T32339932A	BRCA2	NM_000059.3(BRCA2):c.5577del:p.Lys1861_Val1862insTer	coding	Pathogenic
13	32339931	TTAAA	T	T32339932A	BRCA2	NM_000059.3(BRCA2):c.5577_5580del:p.Lys1860_Lys1861insTer	coding	Pathogenic
13	32339932	TAAAA	T	A32339935G	BRCA2	NM_000059.3(BRCA2):c.5580_5583del:p.Lys1860_Lys1861insTer	coding	Pathogenic
13	32339932	TA	T	A32339938G	BRCA2	NM_000059.3(BRCA2):c.5583del:p.Lys1861_Val1862insTer	coding	Pathogenic
13	32339932	T	TA	G32339939A	BRCA2	NM_000059.3(BRCA2):c.5583dup:p.Val1862fs	coding	Pathogenic
13	32339934	AAAAAG	A	A32339935T	BRCA2	NM_000059.3(BRCA2):c.5580_5584del:p.Lys1860fs	coding	Pathogenic
13	32339937	AAGTG	A	G32339939A	BRCA2	NM_000059.3(BRCA2):c.5584_5587del:p.Val1862fs	coding	Pathogenic
13	32339939	GTGAA	G	T32339940A	BRCA2	NM_000059.3(BRCA2):c.5585_5588del:p.Val1862fs	coding	Pathogenic
13	32339943	AAGAC	A	G32339945T	BRCA2	NM_000059.3(BRCA2):c.5590_5593del:p.Asp1864fs	coding	Pathogenic
13	32339943	AAG	A	G32339945C	BRCA2	NM_000059.3(BRCA2):c.5590_5591del:p.Asp1864fs	coding	Pathogenic
13	32339945	GAC	G	C32339947T	BRCA2	NM_000059.3(BRCA2):c.5592_5593del:p.Phe1866fs	coding	Pathogenic
13	32339947	CA	C	A32339948T	BRCA2	NM_000059.3(BRCA2):c.5593del:p.Ile1865fs	coding	Pathogenic
13	32339947	CAT	C	A32339950T	BRCA2	NM_000059.3(BRCA2):c.5593_5594AT[1]:p.Phe1866fs	coding	Pathogenic
13	32339950	AT	C	A32339950C	BRCA2	NM_000059.3(BRCA2):c.5595_5596delinsC:p.Phe1866fs	coding	Pathogenic
13	32339953	TACAG	T	A32339958T	BRCA2	NM_000059.3(BRCA2):c.5599_5602ACAG[1]:p.Asp1868fs	coding	Pathogenic
13	32339957	GAC	G	C32339959G	BRCA2	NM_000059.3(BRCA2):c.5604_5605del:p.Asp1868fs	coding	Pathogenic
13	32339961	G	GC	T32339962C	BRCA2	NM_000059.3(BRCA2):c.5606_5607insC:p.Ser1871fs	coding	Pathogenic
13	32339961	G	GT	C32339965T	BRCA2	NM_000059.3(BRCA2):c.5609dup:p.Ser1871fs	coding	Pathogenic
13	32339962	T	TC	T32339963C	BRCA2	NM_000059.4(BRCA2):c.5607_5608insC:p.Phe1870fs	coding	Pathogenic
13	32339964	TC	AG	T32339964A	BRCA2	NM_000059.3(BRCA2):c.5609_5610delinsAG:p.Phe1870Ter	coding	Pathogenic
13	32339965	CAGTAA	C	A32339971T	BRCA2	NM_000059.3(BRCA2):c.5611_5615AGTAA[1]:p.Lys1872fs	coding	Pathogenic
13	32339968	TA	T	A32339971G	BRCA2	NM_000059.3(BRCA2):c.5616del:p.Lys1872_Val1873insTer	coding	Pathogenic
13	32339971	AGTAAT	A	G32339972T	BRCA2	NM_000059.3(BRCA2):c.5617_5621del:p.Lys1872_Val1873insTer	coding	Pathogenic
13	32339972	GTAAT	G	T32339976G	BRCA2	NM_000059.3(BRCA2):c.5621_5624del:p.Ile1874fs	coding	Pathogenic
13	32339972	GTAATT	G	T32339973A	BRCA2	NM_000059.3(BRCA2):c.5618_5622del:p.Val1873fs	coding	Pathogenic
13	32339976	TTAAGGAA	T	T32339977A	BRCA2	NM_000059.3(BRCA2):c.5622_5628del:p.Lys1875fs	coding	Pathogenic
13	32339977	TA	T	A32339979G	BRCA2	NM_000059.3(BRCA2):c.5624del:p.Lys1875fs	coding	Pathogenic
13	32339981	GA	G	A32339985C	BRCA2	NM_000059.3(BRCA2):c.5630del:p.Asn1877fs	coding	Pathogenic
13	32339985	AC	A	C32339986A	BRCA2	NM_000059.3(BRCA2):c.5631del:p.Asn1877fs	coding	Pathogenic
13	32339992	GAATA	G	A32339996C	BRCA2	NM_000059.3(BRCA2):c.5641_5644del:p.Lys1881fs	coding	Pathogenic
13	32339996	AAATC	A	T32339999A	BRCA2	NM_000059.3(BRCA2):c.5644_5647del:p.Ser1882fs	coding	Pathogenic
13	32340000	C	CA	T32340006A	BRCA2	NM_000059.3(BRCA2):c.5650dup:p.Ile1884fs	coding	Pathogenic
13	32340001	AAAAATTTGCC	A	A32340005C	BRCA2	NM_000059.3(BRCA2):c.5650_5659del:p.Ile1884fs	coding	Pathogenic
13	32340005	A	AT	G32340009T	BRCA2	NM_000059.3(BRCA2):c.5653dup:p.Cys1885fs	coding	Pathogenic
13	32340005	AT	A	T32340008G	BRCA2	NM_000059.3(BRCA2):c.5653del:p.Cys1885fs	coding	Pathogenic
13	32340006	T	TA	T32340007A	BRCA2	NM_000059.4(BRCA2):c.5651_5652insA:p.Cys1885fs	coding	Pathogenic
13	32340009	G	GCC	A32340012C	BRCA2	NM_000059.3(BRCA2):c.5655_5656dup:p.Gln1886fs	coding	Pathogenic
13	32340011	CA	C	A32340014C	BRCA2	NM_000059.4(BRCA2):c.5659del:p.Thr1887fs	coding	Pathogenic
13	32340016	GA	G	A32340020T	BRCA2	NM_000059.3(BRCA2):c.5665del:p.Ile1889fs	coding	Pathogenic
13	32340020	AT	A	T32340022A	BRCA2	NM_000059.4(BRCA2):c.5667del:p.Met1890fs	coding	Pathogenic
13	32340022	TATGGC	T	T32340024G	BRCA2	NM_000059.3(BRCA2):c.5669_5673del:p.Met1890fs	coding	Pathogenic
13	32340028	AG	A	G32340030T	BRCA2	NM_000059.4(BRCA2):c.5675del:p.Gly1892fs	coding	Pathogenic
13	32340031	T	TA	T32340032A	BRCA2	NM_000059.3(BRCA2):c.5676_5677insA:p.Cys1893fs	coding	Pathogenic
13	32340032	T	TA	G32340033A	BRCA2	NM_000059.3(BRCA2):c.5677_5678insA:p.Cys1893Ter	coding	Pathogenic
13	32340035	T	TA	C32340037A	BRCA2	NM_000059.3(BRCA2):c.5681dupA:p.Tyr1894Terfs	coding	Pathogenic
13	32340045	TG	T	G32340047A	BRCA2	NM_000059.3(BRCA2):c.5692del:p.Asp1898fs	coding	Pathogenic
13	32340051	A	AT	C32340054T	BRCA2	NM_000059.4(BRCA2):c.5698dup:p.Ser1900fs	coding	Pathogenic
13	32340051	ATTCAGAGGATATTC	A	G32340056T	BRCA2	NM_000059.3(BRCA2):c.5701_5714del:p.Ser1900_Glu1901insTer	coding	Pathogenic
13	32340054	CAG	C	A32340057G	BRCA2	NM_000059.3(BRCA2):c.5700_5701AG[1]:p.Glu1901fs	coding	Pathogenic
13	32340069	A	AT	A32340071T	BRCA2	NM_000059.3(BRCA2):c.5715dup:p.Asn1906Ter	coding	Pathogenic
13	32340071	AAC	A	A32340072T	BRCA2	NM_000059.3(BRCA2):c.5717_5718del:p.Asn1906fs	coding	Pathogenic
13	32340072	AC	A	C32340073T	BRCA2	NM_000059.3(BRCA2):c.5718del:p.Ser1907fs	coding	Pathogenic
13	32340072	ACT	A	C32340077A	BRCA2	NM_000059.3(BRCA2):c.5718_5719CT[2]:p.Leu1908fs	coding	Pathogenic
13	32340072	ACTCT	A	C32340075A	BRCA2	NM_000059.3(BRCA2):c.5718_5719CT[1]:p.Asn1906_Ser1907insTer	coding	Pathogenic
13	32340077	CTA	C	T32340078G	BRCA2	NM_000059.3(BRCA2):c.5723_5724del:p.Leu1908fs	coding	Pathogenic
13	32340077	CTAGAT	C	T32340078A	BRCA2	NM_000059.3(BRCA2):c.5723_5727del:p.Leu1908fs	coding	Pathogenic
13	32340078	TA	T	A32340079G	BRCA2	NM_000059.3(BRCA2):c.5724del:p.Asp1909fs	coding	Pathogenic
13	32340082	T	TG	A32340083G	BRCA2	NM_000059.3(BRCA2):c.5727_5728insG:p.Asn1910fs	coding	Pathogenic
13	32340099	CG	TGCATT	C32340099T	BRCA2	NM_000059.4(BRCA2):c.5744_5745delinsTGCATT:p.Thr1915fs	coding	Pathogenic
13	32340107	CAT	C	T32340109A	BRCA2	NM_000059.3(BRCA2):c.5754_5755del:p.His1918fs	coding	Pathogenic
13	32340113	G	GT	G32340119T	BRCA2	NM_000059.3(BRCA2):c.5763dupT:p.Ala1922Cysfs	coding	Pathogenic
13	32340113	GT	G	T32340118G	BRCA2	NM_000059.3(BRCA2):c.5763del:p.Phe1921fs	coding	Pathogenic
13	32340114	TTTTTGCTGACA	T	T32340117C	BRCA2	NM_000059.3(BRCA2):c.5762_5772del:p.Phe1921fs	coding	Pathogenic
13	32340123	ACATT	A	T32340126G	BRCA2	NM_000059.3(BRCA2):c.5771_5774del:p.Ile1924fs	coding	Pathogenic
13	32340127	TCA	T	C32340128G	BRCA2	NM_000059.4(BRCA2):c.5773_5774del:p.Gln1925fs	coding	Pathogenic
13	32340128	CAGAG	C	A32340129T	BRCA2	NM_000059.3(BRCA2):c.5774_5777del:p.Gln1925fs	coding	Pathogenic
13	32340131	AGT	A	T32340133A	BRCA2	NM_000059.3(BRCA2):c.5778_5779del:p.Ser1926fs	coding	Pathogenic
13	32340132	GT	G	T32340133G	BRCA2	NM_000059.3(BRCA2):c.5778del:p.Ser1926fs	coding	Pathogenic
13	32340140	AT	A	T32340144A	BRCA2	NM_000059.3(BRCA2):c.5789del:p.Leu1930fs	coding	Pathogenic
13	32340146	CAACAT	C	A32340150C	BRCA2	NM_000059.3(BRCA2):c.5795_5799del:p.His1932fs	coding	Pathogenic
13	32340149	CATAACC	T	C32340149T	BRCA2	NM_000059.3(BRCA2):c.5794_5800delinsT:p.His1932_Gln1934delinsTer	coding	Pathogenic
13	32340149	CAT	C	T32340151A	BRCA2	NM_000059.4(BRCA2):c.5796_5797del:p.His1932fs	coding	Pathogenic
13	32340151	TAACC	T	C32340154A	BRCA2	NM_000059.3(BRCA2):c.5799_5802del:p.Asn1933fs	coding	Pathogenic
13	32340153	ACC	A	C32340154A	BRCA2	NM_000059.3(BRCA2):c.5799_5800del:p.Asn1933fs	coding	Pathogenic
13	32340161	AT	A	T32340162G	BRCA2	NM_000059.3(BRCA2):c.5807del:p.Met1936fs	coding	Pathogenic
13	32340161	ATGTC	A	T32340164G	BRCA2	NM_000059.3(BRCA2):c.5809_5812del:p.Ser1937fs	coding	Pathogenic
13	32340162	TGTCTGGATT	GTC	T32340162G	BRCA2	NM_000059.3(BRCA2):c.5807_5816delinsGTC:p.Met1936fs	coding	Pathogenic
13	32340165	CTG	C	T32340166G	BRCA2	NM_000059.3(BRCA2):c.5811_5812del:p.Gly1938fs	coding	Pathogenic
13	32340173	GAGAAAGTTTCTAAA	G	G32340175T	BRCA2	NM_000059.4(BRCA2):c.5820_5833del:p.Glu1940fs	coding	Pathogenic
13	32340175	GA	G	A32340178G	BRCA2	NM_000059.3(BRCA2):c.5823del:p.Val1942fs	coding	Pathogenic
13	32340179	GTT	G	T32340181C	BRCA2	NM_000059.3(BRCA2):c.5826_5827del:p.Val1942_Ser1943insTer	coding	Pathogenic
13	32340182	TC	T	C32340183T	BRCA2	NM_000059.3(BRCA2):c.5828del:p.Ser1943fs	coding	Pathogenic
13	32340183	CTA	C	T32340184A	BRCA2	NM_000059.3(BRCA2):c.5829_5830del:p.Lys1944fs	coding	Pathogenic
13	32340185	AAAATATC	A	A32340187C	BRCA2	NM_000059.4(BRCA2):c.5832_5838del:p.Lys1944fs	coding	Pathogenic
13	32340188	A	AG	T32340189G	BRCA2	NM_000059.3(BRCA2):c.5833_5834insG:p.Ile1945fs	coding	Pathogenic
13	32340188	A	ATATCACCT	G32340198A	BRCA2	NM_000059.3(BRCA2):c.5835_5842dup:p.Cys1948fs	coding	Pathogenic
13	32340189	T	TA	T32340191A	BRCA2	NM_000059.3(BRCA2):c.5835dup:p.Ser1946fs	coding	Pathogenic
13	32340189	T	TATCACCTTG	T32340199A	BRCA2	NM_000059.3(BRCA2):c.5835_5843dup:p.Cys1948Ter	coding	Pathogenic
13	32340191	T	TA	C32340192A	BRCA2	NM_000059.3(BRCA2):c.5836_5837insA:p.Ser1946fs	coding	Pathogenic
13	32340195	CT	C	T32340197G	BRCA2	NM_000059.3(BRCA2):c.5842del:p.Cys1948fs	coding	Pathogenic
13	32340200	GA	G	A32340201T	BRCA2	NM_000059.3(BRCA2):c.5846del:p.Asp1949fs	coding	Pathogenic
13	32340202	TGTTA	T	A32340206T	BRCA2	NM_000059.3(BRCA2):c.5851_5854del:p.Ser1951fs	coding	Pathogenic
13	32340202	T	TGTTA	T32340210A	BRCA2	NM_000059.3(BRCA2):c.5851_5854dup:p.Leu1952Ter	coding	Pathogenic
13	32340208	T	TTTAG	G32340211A	BRCA2	NM_000059.3(BRCA2):c.5855_5856insAGTT:p.Glu1953fs	coding	Pathogenic
13	32340210	TG	T	G32340212A	BRCA2	NM_000059.3(BRCA2):c.5857del:p.Glu1953fs	coding	Pathogenic
13	32340216	CT	C	T32340218C	BRCA2	NM_000059.3(BRCA2):c.5863del:p.Ser1955fs	coding	Pathogenic
13	32340216	CTT	C	T32340217C	BRCA2	NM_000059.3(BRCA2):c.5862_5863del:p.Ser1955fs	coding	Pathogenic
13	32340230	AA	TTT	A32340230T	BRCA2	NM_000059.3(BRCA2):c.5875_5876delinsTTT:p.Lys1959fs	coding	Pathogenic
13	32340233	TG	T	G32340234T	BRCA2	NM_000059.3(BRCA2):c.5879del:p.Cys1960fs	coding	Pathogenic
13	32340244	GA	G	A32340246G	BRCA2	NM_000059.3(BRCA2):c.5891del:p.Lys1964fs	coding	Pathogenic
13	32340252	AT	A	T32340253A	BRCA2	NM_000059.3(BRCA2):c.5898del:p.His1966fs	coding	Pathogenic
13	32340254	AAGTC	A	A32340259T	BRCA2	NM_000059.3(BRCA2):c.5900_5903AGTC[1]:p.Val1969fs	coding	Pathogenic
13	32340258	C	CA	G32340260A	BRCA2	NM_000059.3(BRCA2):c.5904dup:p.Val1969fs	coding	Pathogenic
13	32340265	AT	A	T32340266C	BRCA2	NM_000059.3(BRCA2):c.5911del:p.Ser1971fs	coding	Pathogenic
13	32340266	TC	T	C32340267T	BRCA2	NM_000059.3(BRCA2):c.5912del:p.Ser1971fs	coding	Pathogenic
13	32340270	CA	C	A32340273T	BRCA2	NM_000059.3(BRCA2):c.5918del:p.Asn1973fs	coding	Pathogenic
13	32340273	AT	A	T32340274A	BRCA2	NM_000059.3(BRCA2):c.5919del:p.Asn1973fs	coding	Pathogenic
13	32340279	GT	G	T32340280G	BRCA2	NM_000059.3(BRCA2):c.5925del:p.Cys1975fs	coding	Pathogenic/Likely_pathogenic
13	32340280	TG	T	G32340283A	BRCA2	NM_000059.4(BRCA2):c.5928del:p.Ile1977fs	coding	Pathogenic
13	32340284	A	AT	A32340290T	BRCA2	NM_000059.3(BRCA2):c.5934dup:p.Ser1979Ter	coding	Pathogenic
13	32340290	A	AT	G32340291T	BRCA2	NM_000059.3(BRCA2):c.5935_5936insT:p.Ser1979fs	coding	Pathogenic
13	32340297	CA	C	A32340299G	BRCA2	NM_000059.3(BRCA2):c.5944del:p.Ser1982fs	coding	Pathogenic
13	32340297	C	CA	G32340300A	BRCA2	NM_000059.4(BRCA2):c.5944dup:p.Ser1982fs	coding	Pathogenic
13	32340299	A	AG	T32340301G	BRCA2	NM_000059.3(BRCA2):c.5945dup:p.Ser1982fs	coding	Pathogenic
13	32340300	GTGGAA	G	T32340301A	BRCA2	NM_000059.3(BRCA2):c.5946_5950del:p.Ser1982fs	coding	Pathogenic
13	32340300	GTGGA	G	T32340301A	BRCA2	NM_000059.3(BRCA2):c.5946_5949del:p.Ser1982fs	coding	Pathogenic
13	32340300	GT	G	T32340301G	BRCA2	NM_000059.4(BRCA2):c.5946del:p.Ser1982fs	coding	Pathogenic
13	32340301	TG	T	G32340303A	BRCA2	NM_000059.3(BRCA2):c.5948del:p.Gly1983fs	coding	Pathogenic
13	32340303	G	GA	T32340308A	BRCA2	NM_000059.3(BRCA2):c.5952dup:p.Ser1985fs	coding	Pathogenic
13	32340307	ATC	A	C32340309G	BRCA2	NM_000059.3(BRCA2):c.5954_5955del:p.Ser1985fs	coding	Pathogenic
13	32340315	A	AG	T32340318G	BRCA2	NM_000059.3(BRCA2):c.5962dup:p.Val1988fs	coding	Pathogenic
13	32340315	AG	A	G32340317T	BRCA2	NM_000059.3(BRCA2):c.5962del:p.Val1988fs	coding	Pathogenic
13	32340317	GTA	G	A32340319C	BRCA2	NM_000059.3(BRCA2):c.5964_5965del:p.Ser1989fs	coding	Pathogenic
13	32340320	T	TC	A32340322C	BRCA2	NM_000059.3(BRCA2):c.5966dup:p.Asp1990fs	coding	Pathogenic
13	32340321	CAG	C	G32340323T	BRCA2	NM_000059.3(BRCA2):c.5968_5969del:p.Asp1990fs	coding	Pathogenic
13	32340321	C	CA	G32340323A	BRCA2	NM_000059.3(BRCA2):c.5967dup:p.Asp1990fs	coding	Pathogenic
13	32340323	GA	G	A32340324T	BRCA2	NM_000059.3(BRCA2):c.5969del:p.Asp1990fs	coding	Pathogenic
13	32340335	CA	C	A32340339C	BRCA2	NM_000059.4(BRCA2):c.5984del:p.Asn1995fs	coding	Pathogenic
13	32340335	C	CA	C32340340A	BRCA2	NM_000059.3(BRCA2):c.5984dup:p.Asn1995fs	coding	Pathogenic
13	32340340	C	CA	G32340341A	BRCA2	NM_000059.3(BRCA2):c.5985_5986insA:p.Ala1996fs	coding	Pathogenic
13	32340341	GCAAGA	G	A32340346T	BRCA2	NM_000059.3(BRCA2):c.5991_5995del:p.Arg1997fs	coding	Pathogenic
13	32340347	CAA	C	A32340348G	BRCA2	NM_000059.3(BRCA2):c.5993_5994del:p.Gln1998fs	coding	Pathogenic
13	32340347	CA	C	A32340349G	BRCA2	NM_000059.3(BRCA2):c.5994del:p.Val1999fs	coding	Pathogenic
13	32340350	G	GT	G32340352T	BRCA2	NM_000059.3(BRCA2):c.5996dup:p.Phe2000fs	coding	Pathogenic
13	32340352	GT	G	T32340356C	BRCA2	NM_000059.3(BRCA2):c.6001del:p.Ser2001fs	coding	Pathogenic
13	32340353	T	CG	T32340353C	BRCA2	NM_000059.3(BRCA2):c.5998delinsCG:p.Phe2000fs	coding	Pathogenic
13	32340359	GA	G	A32340362T	BRCA2	NM_000059.4(BRCA2):c.6007del:p.Glu2002_Ile2003insTer	coding	Pathogenic
13	32340361	AATAGAAG	A	A32340366T	BRCA2	NM_000059.3(BRCA2):c.6011_6017del:p.Glu2004fs	coding	Pathogenic
13	32340362	AT	A	T32340363A	BRCA2	NM_000059.3(BRCA2):c.6008del:p.Ile2003fs	coding	Pathogenic
13	32340363	TAGAAG	T	G32340365T	BRCA2	NM_000059.3(BRCA2):c.6010_6014del:p.Ile2003_Glu2004insTer	coding	Pathogenic
13	32340365	GAAGAT	G	A32340367G	BRCA2	NM_000059.3(BRCA2):c.6012_6016del:p.Asp2005fs	coding	Pathogenic
13	32340366	AAGAT	A	A32340369T	BRCA2	NM_000059.3(BRCA2):c.6014_6017del:p.Asp2005fs	coding	Pathogenic
13	32340370	TAGTA	T	A32340371C	BRCA2	NM_000059.3(BRCA2):c.6016_6019del:p.Ser2006fs	coding	Pathogenic
13	32340372	G	GTA	C32340375T	BRCA2	NM_000059.3(BRCA2):c.6018_6019dup:p.Thr2007fs	coding	Pathogenic
13	32340378	A	AG	C32340380G	BRCA2	NM_000059.3(BRCA2):c.6024dupG:p.Gln2009Alafs	coding	Pathogenic
13	32340385	C	CT	C32340390T	BRCA2	NM_000059.3(BRCA2):c.6034dup:p.Ser2012fs	coding	Pathogenic
13	32340385	CT	C	T32340389C	BRCA2	NM_000059.3(BRCA2):c.6034del:p.Ser2012fs	coding	Pathogenic
13	32340385	CTT	C	T32340388C	BRCA2	NM_000059.3(BRCA2):c.6033_6034del:p.Ser2012fs	coding	Pathogenic
13	32340386	T	TTG	T32340388G	BRCA2	NM_000059.3(BRCA2):c.6032_6033insGT:p.Phe2011fs	coding	Pathogenic
13	32340387	T	TTG	T32340389G	BRCA2	NM_000059.3(BRCA2):c.6033_6034insGT:p.Ser2012fs	coding	Pathogenic
13	32340389	TC	T	C32340391A	BRCA2	NM_000059.3(BRCA2):c.6036del:p.Val2014fs	coding	Pathogenic
13	32340391	CA	C	A32340394G	BRCA2	NM_000059.4(BRCA2):c.6039del:p.Val2014fs	coding	Pathogenic
13	32340400	GT	G	T32340403A	BRCA2	NM_000059.3(BRCA2):c.6048del:p.Phe2016fs	coding	Pathogenic
13	32340406	AAG	A	A32340407T	BRCA2	NM_000059.3(BRCA2):c.6052_6053del:p.Lys2017_Ser2018insTer	coding	Pathogenic
13	32340413	GAACA	G	A32340414T	BRCA2	NM_000059.3(BRCA2):c.6059_6062del:p.Glu2020fs	coding	Pathogenic
13	32340414	AACAT	A	A32340415T	BRCA2	NM_000059.3(BRCA2):c.6060_6063del:p.Glu2020fs	coding	Pathogenic
13	32340418	TTCAGACCAGC	T	G32340422C	BRCA2	NM_000059.3(BRCA2):c.6067_6076del:p.Asp2023fs	coding	Pathogenic
13	32340419	TCAGAC	T	A32340423C	BRCA2	NM_000059.3(BRCA2):c.6068_6072del:p.Asp2023fs	coding	Pathogenic
13	32340425	CA	C	A32340426G	BRCA2	NM_000059.3(BRCA2):c.6071del:p.Gln2024fs	coding	Pathogenic
13	32340427	GCT	G	T32340429A	BRCA2	NM_000059.3(BRCA2):c.6074_6075del:p.Leu2025fs	coding	Pathogenic
13	32340432	CAA	C	A32340433G	BRCA2	NM_000059.3(BRCA2):c.6078_6079del:p.Glu2028fs	coding	Pathogenic
13	32340432	CAAGAG	C	G32340437A	BRCA2	NM_000059.3(BRCA2):c.6082_6086del:p.Glu2028fs	coding	Pathogenic
13	32340432	C	CA	G32340435A	BRCA2	NM_000059.3(BRCA2):c.6079dupA:p.Arg2027Lysfs	coding	Pathogenic
13	32340433	AAG	A	G32340437A	BRCA2	NM_000059.3(BRCA2):c.6080_6081GA[1]:p.Glu2028fs	coding	Pathogenic
13	32340435	G	GA	G32340437A	BRCA2	NM_000059.3(BRCA2):c.6081dup:p.Glu2028fs	coding	Pathogenic
13	32340437	GAAGAA	G	G32340440T	BRCA2	NM_000059.3(BRCA2):c.6085_6089del:p.Glu2029fs	coding	Pathogenic
13	32340438	AAGAAAATA	T	A32340438T	BRCA2	NM_000059.4(BRCA2):c.6083_6091delinsT:p.Glu2028fs	coding	Pathogenic
13	32340439	AG	A	G32340440A	BRCA2	NM_000059.3(BRCA2):c.6085del:p.Glu2029fs	coding	Pathogenic
13	32340445	T	TA	C32340447A	BRCA2	NM_000059.3(BRCA2):c.6091dup:p.Thr2031fs	coding	Pathogenic
13	32340446	AC	A	C32340447T	BRCA2	NM_000059.3(BRCA2):c.6092del:p.Thr2031fs	coding	Pathogenic
13	32340450	C	CT	A32340452T	BRCA2	NM_000059.3(BRCA2):c.6096dup:p.Ile2033fs	coding	Pathogenic
13	32340452	A	AT	A32340454T	BRCA2	NM_000059.3(BRCA2):c.6098dup:p.Arg2034fs	coding	Pathogenic
13	32340453	TA	T	A32340454C	BRCA2	NM_000059.3(BRCA2):c.6099del:p.Arg2034fs	coding	Pathogenic
13	32340457	TA	T	A32340458C	BRCA2	NM_000059.3(BRCA2):c.6103del:p.Thr2035fs	coding	Pathogenic
13	32340461	CCAGAA	C	G32340464T	BRCA2	NM_000059.3(BRCA2):c.6109_6113del:p.Glu2037fs	coding	Pathogenic
13	32340479	CA	C	A32340484G	BRCA2	NM_000059.3(BRCA2):c.6129del:p.Gly2044fs	coding	Pathogenic
13	32340479	C	CA	G32340485A	BRCA2	NM_000059.3(BRCA2):c.6129dup:p.Gly2044fs	coding	Pathogenic
13	32340487	CT	C	T32340491C	BRCA2	NM_000059.3(BRCA2):c.6136del:p.Ser2046fs	coding	Pathogenic
13	32340491	TCA	T	C32340492T	BRCA2	NM_000059.3(BRCA2):c.6137_6138del:p.Ser2046fs	coding	Pathogenic
13	32340499	TG	T	G32340500T	BRCA2	NM_000059.3(BRCA2):c.6145del:p.Val2049fs	coding	Pathogenic
13	32340499	T	TA	G32340500A	BRCA2	NM_000059.3(BRCA2):c.6144_6145insA:p.Val2049fs	coding	Pathogenic
13	32340500	G	GA	T32340501A	BRCA2	NM_000059.4(BRCA2):c.6145_6146insA:p.Val2049fs	coding	Pathogenic
13	32340504	TAA	T	A32340506T	BRCA2	NM_000059.4(BRCA2):c.6151_6152del:p.Asn2051fs	coding	Pathogenic
13	32340504	TA	T	A32340507T	BRCA2	NM_000059.3(BRCA2):c.6152del:p.Asn2051fs	coding	Pathogenic
13	32340507	A	AT	C32340510T	BRCA2	NM_000059.4(BRCA2):c.6154dup:p.Ser2052fs	coding	Pathogenic
13	32340507	AT	A	T32340509C	BRCA2	NM_000059.3(BRCA2):c.6154del:p.Ser2052fs	coding	Pathogenic
13	32340509	T	TC	A32340511C	BRCA2	NM_000059.3(BRCA2):c.6155dup:p.Ser2053fs	coding	Pathogenic/Likely_pathogenic
13	32340516	C	CT	C32340520T	BRCA2	NM_000059.3(BRCA2):c.6164dup:p.Ser2056fs	coding	Pathogenic
13	32340516	CT	C	T32340519C	BRCA2	NM_000059.3(BRCA2):c.6164del:p.Phe2055fs	coding	Pathogenic
13	32340526	AT	A	T32340529A	BRCA2	NM_000059.3(BRCA2):c.6174del:p.Phe2058fs	coding	Pathogenic
13	32340532	TA	T	A32340533C	BRCA2	NM_000059.3(BRCA2):c.6178del:p.Thr2060fs	coding	Pathogenic
13	32340534	CAGCAAGTGGAA	C	G32340542T	BRCA2	NM_000059.3(BRCA2):c.6187_6197del:p.Gly2063fs	coding	Pathogenic
13	32340548	CA	C	A32340550G	BRCA2	NM_000059.3(BRCA2):c.6195del:p.Val2066fs	coding	Pathogenic
13	32340551	GT	G	T32340554C	BRCA2	NM_000059.3(BRCA2):c.6199del:p.Ser2067fs	coding	Pathogenic
13	32340551	GTT	G	T32340553C	BRCA2	NM_000059.3(BRCA2):c.6198_6199del:p.Ser2067fs	coding	Pathogenic
13	32340554	TC	T	C32340556A	BRCA2	NM_000059.3(BRCA2):c.6201del:p.Ile2068fs	coding	Pathogenic
13	32340556	C	CA	T32340558A	BRCA2	NM_000059.3(BRCA2):c.6202dup:p.Ile2068fs	coding	Pathogenic
13	32340557	AT	A	T32340561A	BRCA2	NM_000059.3(BRCA2):c.6206del:p.Ile2068_Leu2069insTer	coding	Pathogenic
13	32340558	T	TA	T32340559A	BRCA2	NM_000059.4(BRCA2):c.6203_6204insA:p.Leu2069fs	coding	Pathogenic
13	32340561	TAGAA	T	A32340564T	BRCA2	NM_000059.3(BRCA2):c.6209_6212del:p.Glu2070fs	coding	Pathogenic
13	32340563	GA	G	A32340566G	BRCA2	NM_000059.3(BRCA2):c.6211del:p.Ser2071fs	coding	Pathogenic
13	32340569	TC	T	C32340571T	BRCA2	NM_000059.3(BRCA2):c.6216del:p.Leu2073fs	coding	Pathogenic
13	32340573	T	TA	C32340575A	BRCA2	NM_000059.3(BRCA2):c.6219dup:p.His2074fs	coding	Pathogenic
13	32340574	AC	A	C32340575A	BRCA2	NM_000059.3(BRCA2):c.6220del:p.His2074fs	coding	Pathogenic
13	32340575	CAC	AA	C32340575A	BRCA2	NM_000059.3(BRCA2):c.6220_6222delinsAA:p.His2074fs	coding	Pathogenic
13	32340577	C	CA	G32340581A	BRCA2	NM_000059.3(BRCA2):c.6225dup:p.Val2076fs	coding	Pathogenic
13	32340579	AAGTT	A	G32340581A	BRCA2	NM_000059.3(BRCA2):c.6226_6229del:p.Val2076fs	coding	Pathogenic
13	32340585	A	AG	A32340589G	BRCA2	NM_000059.3(BRCA2):c.6233dup:p.Val2079fs	coding	Pathogenic
13	32340589	AG	A	G32340590T	BRCA2	NM_000059.3(BRCA2):c.6235del:p.Val2079fs	coding	Pathogenic
13	32340592	GT	G	T32340594A	BRCA2	NM_000059.3(BRCA2):c.6239del:p.Val2079_Leu2080insTer	coding	Pathogenic
13	32340594	T	TA	G32340596A	BRCA2	NM_000059.3(BRCA2):c.6240dup:p.Glu2081fs	coding	Pathogenic
13	32340597	AG	A	G32340599A	BRCA2	NM_000059.4(BRCA2):c.6244del:p.Glu2082fs	coding	Pathogenic/Likely_pathogenic
13	32340599	GA	G	A32340601T	BRCA2	NM_000059.3(BRCA2):c.6246del:p.Glu2082fs	coding	Pathogenic
13	32340609	TAATC	T	A32340611G	BRCA2	NM_000059.3(BRCA2):c.6256_6259del:p.Ile2086fs	coding	Pathogenic
13	32340612	TCAGA	T	C32340613A	BRCA2	NM_000059.3(BRCA2):c.6258_6261del:p.Arg2087fs	coding	Pathogenic
13	32340614	AGAAC	A	G32340615T	BRCA2	NM_000059.3(BRCA2):c.6260_6263del:p.Arg2087fs	coding	Pathogenic
13	32340615	GA	G	A32340617C	BRCA2	NM_000059.3(BRCA2):c.6262del:p.Thr2088fs	coding	Pathogenic
13	32340616	A	AGT	A32340617G	BRCA2	NM_000059.3(BRCA2):c.6261_6262insGT:p.Thr2088fs	coding	Pathogenic
13	32340617	AC	A	C32340618T	BRCA2	NM_000059.3(BRCA2):c.6263del:p.Thr2088fs	coding	Pathogenic
13	32340621	A	AGCAT	A32340626G	BRCA2	NM_000059.3(BRCA2):c.6267_6270dup:p.Ser2091delinsAlaTer	coding	Pathogenic
13	32340621	AGC	A	G32340622A	BRCA2	NM_000059.3(BRCA2):c.6267_6268del:p.Glu2089_His2090insTer	coding	Pathogenic
13	32340621	AGCATAGTC	A	G32340622T	BRCA2	NM_000059.3(BRCA2):c.6267_6274del:p.Glu2089fs	coding	Pathogenic
13	32340622	GCA	C	G32340622C	BRCA2	NM_000059.3(BRCA2):c.6267_6269delinsC:p.Glu2089fs	coding	Pathogenic
13	32340622	GCA	G	C32340623T	BRCA2	NM_000059.3(BRCA2):c.6268_6269del:p.Glu2089_His2090insTer	coding	Pathogenic
13	32340623	CA	C	A32340624T	BRCA2	NM_000059.4(BRCA2):c.6269del:p.His2090fs	coding	Pathogenic
13	32340623	CAT	C	T32340625G	BRCA2	NM_000059.3(BRCA2):c.6270_6271del:p.His2090fs	coding	Pathogenic
13	32340627	G	GA	T32340628A	BRCA2	NM_000059.3(BRCA2):c.6272_6273insA:p.Ser2091fs	coding	Pathogenic
13	32340628	T	TA	C32340629A	BRCA2	NM_000059.3(BRCA2):c.6273_6274insA:p.Leu2092fs	coding	Pathogenic
13	32340629	CT	C	T32340631C	BRCA2	NM_000059.3(BRCA2):c.6276del:p.His2093fs	coding	Pathogenic
13	32340629	CTTCACTA	C	T32340635C	BRCA2	NM_000059.3(BRCA2):c.6280_6286del:p.Tyr2094fs	coding	Pathogenic
13	32340629	CTT	C	T32340630C	BRCA2	NM_000059.3(BRCA2):c.6275_6276del:p.Leu2092fs	coding	Pathogenic
13	32340631	T	TC	A32340633C	BRCA2	NM_000059.3(BRCA2):c.6277dup:p.His2093fs	coding	Pathogenic
13	32340633	ACTATTCAC	A	T32340637C	BRCA2	NM_000059.3(BRCA2):c.6282_6289del:p.Ser2095fs	coding	Pathogenic
13	32340647	TCTAGACAAA	AGG	T32340647A	BRCA2	NM_000059.3(BRCA2):c.6292_6301delinsAGG:p.Ser2098fs	coding	Pathogenic
13	32340652	ACAAAAT	TCC	A32340652T	BRCA2	NM_000059.4(BRCA2):c.6297_6303delinsTCC:p.Arg2099fs	coding	Pathogenic
13	32340653	CA	C	A32340657T	BRCA2	NM_000059.3(BRCA2):c.6302del:p.Asn2101fs	coding	Pathogenic
13	32340653	C	CA	T32340658A	BRCA2	NM_000059.3(BRCA2):c.6302dup:p.Asn2101fs	coding	Pathogenic
13	32340657	ATG	A	G32340659A	BRCA2	NM_000059.3(BRCA2):c.6304_6305del:p.Val2102fs	coding	Pathogenic
13	32340659	G	GT	A32340661T	BRCA2	NM_000059.3(BRCA2):c.6305dup:p.Ser2103fs	coding	Pathogenic
13	32340663	CA	C	A32340668T	BRCA2	NM_000059.3(BRCA2):c.6313del:p.Ile2105fs	coding	Pathogenic
13	32340673	TC	T	C32340675T	BRCA2	NM_000059.3(BRCA2):c.6320del:p.Pro2107fs	coding	Pathogenic
13	32340677	CGT	C	G32340680T	BRCA2	NM_000059.3(BRCA2):c.6323_6324GT[1]:p.Arg2108_Val2109insTer	coding	Pathogenic
13	32340680	G	GT	G32340683T	BRCA2	NM_000059.3(BRCA2):c.6327dup:p.Asp2110Ter	coding	Pathogenic
13	32340685	TAAGAG	T	G32340688A	BRCA2	NM_000059.3(BRCA2):c.6333_6337del:p.Arg2112fs	coding	Pathogenic
13	32340685	TAA	T	A32340686G	BRCA2	NM_000059.3(BRCA2):c.6331_6332del:p.Lys2111fs	coding	Pathogenic
13	32340685	T	TA	G32340688A	BRCA2	NM_000059.3(BRCA2):c.6332dup:p.Arg2112fs	coding	Pathogenic
13	32340686	AAG	A	G32340690A	BRCA2	NM_000059.4(BRCA2):c.6335_6336del:p.Arg2112fs	coding	Pathogenic
13	32340691	AAACC	TTT	A32340691T	BRCA2	NM_000059.3(BRCA2):c.6336_6340delinsTTT:p.Arg2112fs	coding	Pathogenic
13	32340693	ACC	A	C32340695A	BRCA2	NM_000059.3(BRCA2):c.6340_6341del:p.Pro2114fs	coding	Pathogenic
13	32340703	C	CT	G32340705T	BRCA2	NM_000059.3(BRCA2):c.6349dup:p.Cys2117fs	coding	Pathogenic
13	32340703	CTG	C	G32340707A	BRCA2	NM_000059.3(BRCA2):c.6350_6351GT[1]:p.Val2118fs	coding	Pathogenic
13	32340705	GTGTAAACTCAGAAA	G	T32340708G	BRCA2	NM_000059.3(BRCA2):c.6353_6366del:p.Val2118fs	coding	Pathogenic
13	32340708	T	TA	C32340712A	BRCA2	NM_000059.3(BRCA2):c.6356dup:p.Asn2119fs	coding	Pathogenic
13	32340710	AAC	T	A32340710T	BRCA2	NM_000059.3(BRCA2):c.6355_6357delinsT:p.Asn2119fs	coding	Pathogenic
13	32340714	CAG	C	G32340716A	BRCA2	NM_000059.3(BRCA2):c.6361_6362del:p.Glu2121fs	coding	Pathogenic
13	32340721	G	GGAAA	A32340726G	BRCA2	NM_000059.3(BRCA2):c.6367_6370dup:p.Lys2124fs	coding	Pathogenic
13	32340722	GA	G	A32340728C	BRCA2	NM_000059.3(BRCA2):c.6373del:p.Thr2125fs	coding	Pathogenic
13	32340722	G	GAA	C32340729A	BRCA2	NM_000059.3(BRCA2):c.6372_6373dup:p.Thr2125fs	coding	Pathogenic
13	32340722	G	GA	C32340729A	BRCA2	NM_000059.3(BRCA2):c.6373dup:p.Thr2125fs	coding	Pathogenic
13	32340728	AC	G	A32340728G	BRCA2	NM_000059.3(BRCA2):c.6373_6374delinsG:p.Thr2125fs	coding	Pathogenic
13	32340729	C	CA	C32340730A	BRCA2	NM_000059.4(BRCA2):c.6374_6375insA:p.Cys2126fs	coding	Pathogenic
13	32340733	CA	C	A32340734G	BRCA2	NM_000059.3(BRCA2):c.6379del:p.Ser2127fs	coding	Pathogenic
13	32340742	A	AT	A32340746T	BRCA2	NM_000059.3(BRCA2):c.6390dup:p.Lys2131Ter	coding	Pathogenic
13	32340742	ATTTAAATT	TTTA	A32340742T	BRCA2	NM_000059.4(BRCA2):c.6387_6395delinsTTTA:p.Glu2129fs	coding	Pathogenic
13	32340743	TTTAAA	T	A32340747T	BRCA2	NM_000059.3(BRCA2):c.6392_6396del:p.Lys2131fs	coding	Pathogenic
13	32340745	TA	T	A32340748T	BRCA2	NM_000059.3(BRCA2):c.6393del:p.Lys2131fs	coding	Pathogenic
13	32340746	AAATT	A	A32340748T	BRCA2	NM_000059.3(BRCA2):c.6393_6396del:p.Lys2131fs	coding	Pathogenic
13	32340746	A	AT	A32340747T	BRCA2	NM_000059.4(BRCA2):c.6391_6392insT:p.Lys2131fs	coding	Pathogenic
13	32340750	T	TA	T32340752A	BRCA2	NM_000059.3(BRCA2):c.6396dup:p.Ser2133fs	coding	Pathogenic
13	32340751	A	AT	C32340753T	BRCA2	NM_000059.3(BRCA2):c.6397dup:p.Ser2133fs	coding	Pathogenic
13	32340753	CAAAT	C	A32340756C	BRCA2	NM_000059.3(BRCA2):c.6401_6404del:p.Asn2134fs	coding	Pathogenic
13	32340756	ATAACT	A	C32340760A	BRCA2	NM_000059.4(BRCA2):c.6405_6409del:p.Asn2135fs	coding	Pathogenic
13	32340758	AACTT	A	C32340760A	BRCA2	NM_000059.3(BRCA2):c.6405_6408del:p.Asn2135fs	coding	Pathogenic
13	32340760	CTTAAA	C	T32340762G	BRCA2	NM_000059.3(BRCA2):c.6407_6411del:p.Leu2136fs	coding	Pathogenic
13	32340760	CTTAAATG	C	A32340763G	BRCA2	NM_000059.3(BRCA2):c.6408_6414del:p.Asn2137fs	coding	Pathogenic
13	32340760	CTT	C	T32340761A	BRCA2	NM_000059.3(BRCA2):c.6406_6407del:p.Leu2136fs	coding	Pathogenic
13	32340761	T	TTAAA	G32340767A	BRCA2	NM_000059.3(BRCA2):c.6408_6411dup:p.Val2138fs	coding	Pathogenic
13	32340762	TA	T	A32340765T	BRCA2	NM_000059.3(BRCA2):c.6410del:p.Asn2137fs	coding	Pathogenic
13	32340762	T	TA	T32340766A	BRCA2	NM_000059.3(BRCA2):c.6410dup:p.Asn2137fs	coding	Pathogenic
13	32340770	GAAGGTGGTTCT	TGTTTAGTTAG	G32340770T	BRCA2	NM_000059.4(BRCA2):c.6415_6426delinsTGTTTAGTTAG:p.Glu2139fs	coding	Pathogenic
13	32340772	AG	A	G32340774T	BRCA2	NM_000059.3(BRCA2):c.6419del:p.Gly2140fs	coding	Pathogenic
13	32340774	G	GA	T32340775A	BRCA2	NM_000059.3(BRCA2):c.6419_6420insA:p.Gly2141fs	coding	Pathogenic
13	32340775	T	TA	G32340776A	BRCA2	NM_000059.3(BRCA2):c.6420_6421insA:p.Gly2141fs	coding	Pathogenic
13	32340775	T	TG	T32340778G	BRCA2	NM_000059.3(BRCA2):c.6422dup:p.Ser2142fs	coding	Pathogenic
13	32340782	TC	T	C32340783A	BRCA2	NM_000059.3(BRCA2):c.6428del:p.Ser2142_Ser2143insTer	coding	Pathogenic
13	32340785	GA	G	A32340789T	BRCA2	NM_000059.3(BRCA2):c.6434del:p.Asn2145fs	coding	Pathogenic
13	32340788	AATAATCAC	A	A32340789T	BRCA2	NM_000059.3(BRCA2):c.6434_6441del:p.Asn2145fs	coding	Pathogenic
13	32340790	TAATC	T	A32340792C	BRCA2	NM_000059.3(BRCA2):c.6437_6440del:p.Asn2146fs	coding	Pathogenic
13	32340795	ACT	A	C32340798A	BRCA2	NM_000059.3(BRCA2):c.6441_6442CT[1]:p.Ser2148fs	coding	Pathogenic
13	32340798	C	CT	A32340800T	BRCA2	NM_000059.3(BRCA2):c.6444dupT:p.Ile2149Tyrfs	coding	Pathogenic
13	32340798	CTA	C	A32340800T	BRCA2	NM_000059.3(BRCA2):c.6445_6446del:p.Ser2148_Ile2149insTer	coding	Pathogenic
13	32340798	CTATT	C	T32340799A	BRCA2	NM_000059.3(BRCA2):c.6444_6447del:p.Ile2149fs	coding	Pathogenic
13	32340798	CT	C	T32340799A	BRCA2	NM_000059.3(BRCA2):c.6444del:p.Ile2149fs	coding	Pathogenic
13	32340799	TA	T	A32340800T	BRCA2	NM_000059.3(BRCA2):c.6445del:p.Ile2149fs	coding	Pathogenic
13	32340799	TATTAAAGTTTCTCC	T	T32340802A	BRCA2	NM_000059.3(BRCA2):c.6447_6460del:p.Lys2150fs	coding	Pathogenic
13	32340799	TATTAA	T	T32340801G	BRCA2	NM_000059.3(BRCA2):c.6446_6450del:p.Ile2149fs	coding	Pathogenic
13	32340800	AT	A	T32340802A	BRCA2	NM_000059.3(BRCA2):c.6447del:p.Val2151fs	coding	Pathogenic
13	32340800	ATT	A	T32340801A	BRCA2	NM_000059.3(BRCA2):c.6446_6447del:p.Ile2149fs	coding	Pathogenic
13	32340801	TTA	T	T32340802A	BRCA2	NM_000059.3(BRCA2):c.6447_6448del:p.Lys2150fs	coding	Pathogenic
13	32340801	T	TTA	A32340804T	BRCA2	NM_000059.3(BRCA2):c.6447_6448dup:p.Lys2150fs	coding	Pathogenic
13	32340802	TAA	T	A32340804G	BRCA2	NM_000059.3(BRCA2):c.6449_6450del:p.Lys2150fs	coding	Pathogenic
13	32340802	TA	T	A32340805G	BRCA2	NM_000059.3(BRCA2):c.6450del:p.Val2151fs	coding	Pathogenic
13	32340802	T	TAA	G32340806A	BRCA2	NM_000059.4(BRCA2):c.6449_6450dup:p.Val2151fs	coding	Pathogenic
13	32340802	T	TA	G32340806A	BRCA2	NM_000059.3(BRCA2):c.6450dup:p.Val2151fs	coding	Pathogenic
13	32340803	A	AAT	A32340805T	BRCA2	NM_000059.3(BRCA2):c.6449_6450insTA:p.Lys2150fs	coding	Pathogenic
13	32340811	TC	T	C32340813A	BRCA2	NM_000059.3(BRCA2):c.6458del:p.Pro2153fs	coding	Pathogenic
13	32340816	A	ATC	A32340825T	BRCA2	NM_000059.3(BRCA2):c.6462_6463TC[5]:p.Gln2157fs	coding	Pathogenic
13	32340816	ATC	A	T32340823A	BRCA2	NM_000059.3(BRCA2):c.6462_6463TC[3]:p.Gln2157fs	coding	Pathogenic
13	32340816	ATCTC	A	T32340821A	BRCA2	NM_000059.3(BRCA2):c.6462_6463TC[2]:p.Ser2156fs	coding	Pathogenic
13	32340826	A	AT	C32340830T	BRCA2	NM_000059.3(BRCA2):c.6474dup:p.Gln2159fs	coding	Pathogenic
13	32340833	CA	C	A32340835G	BRCA2	NM_000059.3(BRCA2):c.6480del:p.Asp2161fs	coding	Pathogenic
13	32340834	AAGAC	A	G32340836A	BRCA2	NM_000059.3(BRCA2):c.6481_6484del:p.Asp2161fs	coding	Pathogenic
13	32340836	GACAA	G	A32340841C	BRCA2	NM_000059.3(BRCA2):c.6482_6485ACAA[1]:p.Lys2162fs	coding	Pathogenic
13	32340838	CAA	C	A32340840C	BRCA2	NM_000059.3(BRCA2):c.6485_6486del:p.Lys2162fs	coding	Pathogenic
13	32340844	AC	A	C32340845A	BRCA2	NM_000059.3(BRCA2):c.6490del:p.Gln2164fs	coding	Pathogenic
13	32340845	CA	C	A32340846G	BRCA2	NM_000059.3(BRCA2):c.6491del:p.Gln2164fs	coding	Pathogenic
13	32340845	CAG	GACT	C32340845G	BRCA2	NM_000059.3(BRCA2):c.6490_6492delinsGACT:p.Gln2164fs	coding	Pathogenic
13	32340845	CAGTT	C	A32340846G	BRCA2	NM_000059.3(BRCA2):c.6491_6494del:p.Gln2164fs	coding	Pathogenic
13	32340845	CAGTTG	C	A32340846G	BRCA2	NM_000059.3(BRCA2):c.6491_6495del:p.Gln2164fs	coding	Pathogenic
13	32340847	GT	G	T32340849G	BRCA2	NM_000059.3(BRCA2):c.6494del:p.Leu2165fs	coding	Pathogenic
13	32340862	CAA	C	A32340864G	BRCA2	NM_000059.3(BRCA2):c.6509_6510del:p.Lys2170fs	coding	Pathogenic
13	32340862	C	CA	G32340866A	BRCA2	NM_000059.3(BRCA2):c.6510dup:p.Val2171fs	coding	Pathogenic
13	32340865	AGT	A	G32340868C	BRCA2	NM_000059.4(BRCA2):c.6513_6514del:p.Ser2172fs	coding	Pathogenic
13	32340868	GTC	G	T32340869A	BRCA2	NM_000059.3(BRCA2):c.6514_6515del:p.Ser2172fs	coding	Pathogenic
13	32340880	GA	G	A32340882C	BRCA2	NM_000059.3(BRCA2):c.6527del:p.Asn2176fs	coding	Pathogenic
13	32340882	A	ACATTCATG	T32340891C	BRCA2	NM_000059.3(BRCA2):c.6528_6535dup:p.Val2179fs	coding	Pathogenic
13	32340882	ACATT	A	T32340886G	BRCA2	NM_000059.3(BRCA2):c.6531_6534del:p.Ile2177fs	coding	Pathogenic
13	32340884	A	AT	C32340887T	BRCA2	NM_000059.3(BRCA2):c.6531dup:p.His2178fs	coding	Pathogenic
13	32340886	T	TC	A32340888C	BRCA2	NM_000059.3(BRCA2):c.6532dup:p.His2178fs	coding	Pathogenic
13	32340887	C	CT	A32340888T	BRCA2	NM_000059.3(BRCA2):c.6532_6533insT:p.His2178fs	coding	Pathogenic
13	32340889	T	TA	G32340890A	BRCA2	NM_000059.3(BRCA2):c.6534_6535insA:p.Val2179fs	coding	Pathogenic
13	32340889	T	TG	T32340891G	BRCA2	NM_000059.3(BRCA2):c.6535dup:p.Val2179fs	coding	Pathogenic
13	32340890	G	GA	T32340891A	BRCA2	NM_000059.4(BRCA2):c.6535_6536insA:p.Val2179fs	coding	Pathogenic
13	32340891	T	TA	T32340892A	BRCA2	NM_000059.3(BRCA2):c.6536_6537insA:p.Leu2180fs	coding	Pathogenic
13	32340901	AG	A	G32340902A	BRCA2	NM_000059.4(BRCA2):c.6547del:p.Glu2183fs	coding	Pathogenic
13	32340906	AG	A	G32340908C	BRCA2	NM_000059.3(BRCA2):c.6553del:p.Ala2185fs	coding	Pathogenic
13	32340908	G	GC	T32340910C	BRCA2	NM_000059.4(BRCA2):c.6554dup:p.Ser2186fs	coding	Pathogenic
13	32340916	TA	T	A32340921C	BRCA2	NM_000059.3(BRCA2):c.6566del:p.Asn2189fs	coding	Pathogenic
13	32340916	T	TA	C32340922A	BRCA2	NM_000059.3(BRCA2):c.6566dup:p.Asn2189fs	coding	Pathogenic
13	32340917	AAAAACGT	A	C32340922A	BRCA2	NM_000059.3(BRCA2):c.6567_6573del:p.Asn2189fs	coding	Pathogenic
13	32340924	TA	T	A32340929T	BRCA2	NM_000059.3(BRCA2):c.6574del:p.Met2192fs	coding	Pathogenic
13	32340926	AAAATGGAAATTGGT	A	T32340930A	BRCA2	NM_000059.3(BRCA2):c.6575_6588del:p.Met2192fs	coding	Pathogenic
13	32340929	ATGGAAAT	A	A32340933T	BRCA2	NM_000059.3(BRCA2):c.6578_6584del:p.Glu2193fs	coding	Pathogenic
13	32340932	G	GA	T32340936A	BRCA2	NM_000059.3(BRCA2):c.6580dup:p.Ile2194fs	coding	Pathogenic
13	32340939	G	GT	A32340941T	BRCA2	NM_000059.3(BRCA2):c.6585dup:p.Lys2196Ter	coding	Pathogenic
13	32340940	TAA	T	A32340943C	BRCA2	NM_000059.3(BRCA2):c.6588_6589del:p.Lys2196fs	coding	Pathogenic
13	32340940	TA	T	A32340944C	BRCA2	NM_000059.3(BRCA2):c.6589del:p.Thr2197fs	coding	Pathogenic
13	32340940	T	TA	C32340945A	BRCA2	NM_000059.3(BRCA2):c.6589dup:p.Thr2197fs	coding	Pathogenic
13	32340945	CT	C	T32340946G	BRCA2	NM_000059.3(BRCA2):c.6591del:p.Glu2198fs	coding	Pathogenic
13	32340945	CTG	C	T32340946A	BRCA2	NM_000059.3(BRCA2):c.6591_6592del:p.Glu2198fs	coding	Pathogenic
13	32340950	AC	A	C32340951T	BRCA2	NM_000059.3(BRCA2):c.6596del:p.Thr2199fs	coding	Pathogenic
13	32340951	CT	A	C32340951A	BRCA2	NM_000059.3(BRCA2):c.6596_6597delinsA:p.Thr2199fs	coding	Pathogenic
13	32340951	CT	C	T32340956C	BRCA2	NM_000059.3(BRCA2):c.6601del:p.Ser2201fs	coding	Pathogenic
13	32340951	CTT	C	T32340955C	BRCA2	NM_000059.3(BRCA2):c.6600_6601del:p.Phe2200_Ser2201insTer	coding	Pathogenic
13	32340956	TC	T	C32340957T	BRCA2	NM_000059.3(BRCA2):c.6602del:p.Ser2201fs	coding	Pathogenic
13	32340957	CTG	C	T32340958A	BRCA2	NM_000059.3(BRCA2):c.6603_6604del:p.Asp2202fs	coding	Pathogenic
13	32340964	T	TC	T32340967C	BRCA2	NM_000059.3(BRCA2):c.6611dup:p.Val2205fs	coding	Pathogenic
13	32340975	CA	C	A32340978T	BRCA2	NM_000059.3(BRCA2):c.6623del:p.Asn2208fs	coding	Pathogenic
13	32340977	A	AAT	G32340983T	BRCA2	NM_000059.3(BRCA2):c.6624_6625TA[3]:p.Glu2210Ter	coding	Pathogenic
13	32340977	AAT	A	T32340981G	BRCA2	NM_000059.3(BRCA2):c.6624_6625TA[1]:p.Ile2209fs	coding	Pathogenic
13	32340979	T	TA	T32340981A	BRCA2	NM_000059.3(BRCA2):c.6625dup:p.Ile2209fs	coding	Pathogenic
13	32340980	ATAGAAGTT	A	A32340982G	BRCA2	NM_000059.3(BRCA2):c.6627_6634del:p.Ile2209fs	coding	Pathogenic
13	32340983	GAA	G	A32340984G	BRCA2	NM_000059.3(BRCA2):c.6629_6630del:p.Glu2210fs	coding	Pathogenic
13	32340985	AGTTT	A	T32340989C	BRCA2	NM_000059.3(BRCA2):c.6634_6637del:p.Cys2212fs	coding	Pathogenic
13	32340988	TTG	T	G32340990T	BRCA2	NM_000059.3(BRCA2):c.6635_6636del:p.Cys2212fs	coding	Pathogenic
13	32340992	TC	T	C32340993T	BRCA2	NM_000059.3(BRCA2):c.6638del:p.Ser2213fs	coding	Pathogenic
13	32340995	A	AC	T32340997C	BRCA2	NM_000059.3(BRCA2):c.6641dupC:p.Tyr2215Leufs	coding	Pathogenic
13	32340996	CT	C	T32340998A	BRCA2	NM_000059.3(BRCA2):c.6643del:p.Tyr2215fs	coding	Pathogenic
13	32340997	T	TC	T32340998C	BRCA2	NM_000059.4(BRCA2):c.6642_6643insC:p.Tyr2215fs	coding	Pathogenic
13	32340998	TACTCC	T	C32341000A	BRCA2	NM_000059.3(BRCA2):c.6645_6649del:p.Tyr2215_Lys2217delinsTer	coding	Pathogenic
13	32340998	TACTC	T	A32340999C	BRCA2	NM_000059.3(BRCA2):c.6644_6647del:p.Tyr2215fs	coding	Pathogenic
13	32340998	T	TA	C32341000A	BRCA2	NM_000059.3(BRCA2):c.6644dupA:p.Tyr2215Terfs	coding	Pathogenic
13	32340999	ACTCC	A	C32341000A	BRCA2	NM_000059.3(BRCA2):c.6645_6648del:p.Thr2214_Tyr2215insTer	coding	Pathogenic
13	32341004	AAAGAT	A	A32341005T	BRCA2	NM_000059.3(BRCA2):c.6650_6654del:p.Lys2217fs	coding	Pathogenic
13	32341006	A	AG	A32341008G	BRCA2	NM_000059.3(BRCA2):c.6652dup:p.Asp2218fs	coding	Pathogenic
13	32341006	AG	A	G32341007A	BRCA2	NM_000059.3(BRCA2):c.6652del:p.Asp2218fs	coding	Pathogenic
13	32341011	CAGAAA	C	G32341013C	BRCA2	NM_000059.3(BRCA2):c.6658_6662del:p.Glu2220fs	coding	Pathogenic
13	32341011	CAGAA	C	G32341013A	BRCA2	NM_000059.3(BRCA2):c.6658_6661del:p.Glu2220fs	coding	Pathogenic
13	32341013	GA	G	A32341017C	BRCA2	NM_000059.3(BRCA2):c.6662del:p.Asn2221fs	coding	Pathogenic
13	32341017	A	AAAAG	C32341018A	BRCA2	NM_000059.3(BRCA2):c.6662_6663insAAAG:p.Asn2221fs	coding	Pathogenic
13	32341018	C	CAAAG	T32341019A	BRCA2	NM_000059.3(BRCA2):c.6663_6664insAAAG:p.Tyr2222fs	coding	Pathogenic
13	32341018	C	CT	A32341020T	BRCA2	NM_000059.4(BRCA2):c.6664dup:p.Tyr2222fs	coding	Pathogenic
13	32341025	GA	G	A32341028C	BRCA2	NM_000059.3(BRCA2):c.6673del:p.Thr2225fs	coding	Pathogenic
13	32341029	CAG	C	G32341031A	BRCA2	NM_000059.3(BRCA2):c.6676_6677del:p.Glu2226fs	coding	Pathogenic
13	32341031	GA	G	A32341033G	BRCA2	NM_000059.3(BRCA2):c.6678del:p.Ala2227fs	coding	Pathogenic
13	32341035	C	CA	G32341037A	BRCA2	NM_000059.3(BRCA2):c.6681dup:p.Val2228fs	coding	Pathogenic
13	32341036	A	AG	T32341038G	BRCA2	NM_000059.3(BRCA2):c.6682dupG:p.Val2228Glyfs	coding	Pathogenic
13	32341038	TA	T	A32341039G	BRCA2	NM_000059.3(BRCA2):c.6684del:p.Glu2229fs	coding	Pathogenic
13	32341040	GA	G	A32341043T	BRCA2	NM_000059.3(BRCA2):c.6688del:p.Ile2230fs	coding	Pathogenic
13	32341043	A	AT	G32341046T	BRCA2	NM_000059.3(BRCA2):c.6690dup:p.Ala2231fs	coding	Pathogenic
13	32341043	AT	A	T32341045G	BRCA2	NM_000059.4(BRCA2):c.6690del:p.Ile2230fs	coding	Pathogenic
13	32341046	GC	G	C32341047T	BRCA2	NM_000059.3(BRCA2):c.6692del:p.Ala2231fs	coding	Pathogenic
13	32341048	TA	T	A32341051G	BRCA2	NM_000059.3(BRCA2):c.6696del:p.Ala2233fs	coding	Pathogenic
13	32341052	GC	G	C32341053T	BRCA2	NM_000059.3(BRCA2):c.6698del:p.Ala2233fs	coding	Pathogenic
13	32341053	C	CTTTT	A32341058T	BRCA2	NM_000059.3(BRCA2):c.6699_6702dup:p.Met2235fs	coding	Pathogenic
13	32341053	CT	C	T32341057A	BRCA2	NM_000059.3(BRCA2):c.6702del:p.Phe2234fs	coding	Pathogenic
13	32341056	TTA	T	A32341058G	BRCA2	NM_000059.3(BRCA2):c.6703_6704del:p.Met2235fs	coding	Pathogenic
13	32341069	T	TG	A32341071G	BRCA2	NM_000059.3(BRCA2):c.6715dup:p.Glu2239fs	coding	Pathogenic
13	32341070	GA	G	A32341072C	BRCA2	NM_000059.3(BRCA2):c.6717del:p.Glu2239fs	coding	Pathogenic
13	32341075	G	GAC	G32341079C	BRCA2	NM_000059.3(BRCA2):c.6722_6723dup:p.Asp2242fs	coding	Pathogenic
13	32341077	CAG	C	G32341079T	BRCA2	NM_000059.3(BRCA2):c.6724_6725del:p.Asp2242fs	coding	Pathogenic
13	32341077	C	CA	G32341079A	BRCA2	NM_000059.3(BRCA2):c.6723dup:p.Asp2242fs	coding	Pathogenic
13	32341079	G	GA	T32341081A	BRCA2	NM_000059.3(BRCA2):c.6725dup:p.Asp2242fs	coding	Pathogenic
13	32341080	AT	A	T32341082C	BRCA2	NM_000059.3(BRCA2):c.6727del:p.Ser2243fs	coding	Pathogenic
13	32341081	T	TTA	C32341083A	BRCA2	NM_000059.3(BRCA2):c.6727_6728insAT:p.Ser2243fs	coding	Pathogenic
13	32341084	TA	T	A32341087C	BRCA2	NM_000059.3(BRCA2):c.6732del:p.Lys2244fs	coding	Pathogenic
13	32341095	GTCATGCCACACAT	G	A32341098T	BRCA2	NM_000059.3(BRCA2):c.6743_6755del:p.His2248fs	coding	Pathogenic
13	32341105	AC	A	C32341106A	BRCA2	NM_000059.3(BRCA2):c.6751del:p.His2251fs	coding	Pathogenic
13	32341107	A	AT	C32341110T	BRCA2	NM_000059.3(BRCA2):c.6754dup:p.Ser2252fs	coding	Pathogenic
13	32341107	ATT	A	T32341108C	BRCA2	NM_000059.3(BRCA2):c.6753_6754del:p.Leu2253fs	coding	Pathogenic
13	32341108	TTC	T	C32341112T	BRCA2	NM_000059.3(BRCA2):c.6755_6756CT[1]:p.Leu2253fs	coding	Pathogenic
13	32341111	T	TC	T32341113C	BRCA2	NM_000059.3(BRCA2):c.6757dup:p.Leu2253fs	coding	Pathogenic
13	32341112	CT	C	T32341117A	BRCA2	NM_000059.3(BRCA2):c.6762del:p.Phe2254fs	coding	Pathogenic
13	32341112	CTT	C	T32341116A	BRCA2	NM_000059.3(BRCA2):c.6761_6762del:p.Phe2254fs	coding	Pathogenic
13	32341117	T	TA	C32341119A	BRCA2	NM_000059.3(BRCA2):c.6763dup:p.Thr2255fs	coding	Pathogenic
13	32341131	ATG	A	T32341132A	BRCA2	NM_000059.4(BRCA2):c.6777_6778del:p.Asn2259fs	coding	Pathogenic
13	32341132	T	TA	G32341133A	BRCA2	NM_000059.3(BRCA2):c.6777_6778insA:p.Glu2260fs	coding	Pathogenic
13	32341160	AT	A	T32341162G	BRCA2	NM_000059.4(BRCA2):c.6807del:p.Ile2269fs	coding	Pathogenic
13	32341162	TG	T	G32341164A	BRCA2	NM_000059.3(BRCA2):c.6809del:p.Gly2270fs	coding	Pathogenic
13	32341164	GA	G	A32341169G	BRCA2	NM_000059.3(BRCA2):c.6814del:p.Arg2272fs	coding	Pathogenic
13	32341168	AAGAAG	A	A32341171G	BRCA2	NM_000059.3(BRCA2):c.6816_6820del:p.Gly2274fs	coding	Pathogenic
13	32341168	AAG	A	G32341170A	BRCA2	NM_000059.3(BRCA2):c.6815_6816del:p.Arg2272fs	coding	Pathogenic
13	32341170	GAA	G	A32341171G	BRCA2	NM_000059.3(BRCA2):c.6816_6817del:p.Gly2274fs	coding	Pathogenic
13	32341175	G	GGA	C32341181A	BRCA2	NM_000059.3(BRCA2):c.6822_6823AG[3]:p.Pro2276fs	coding	Pathogenic
13	32341178	G	GAGCC	C32341183A	BRCA2	NM_000059.3(BRCA2):c.6824_6827dup:p.Leu2277fs	coding	Pathogenic/Likely_pathogenic
13	32341179	AG	A	G32341180C	BRCA2	NM_000059.3(BRCA2):c.6825del:p.Glu2275fs	coding	Pathogenic
13	32341183	CCTTAT	C	T32341188G	BRCA2	NM_000059.3(BRCA2):c.6833_6837del:p.Ile2278fs	coding	Pathogenic
13	32341186	T	TAA	T32341188A	BRCA2	NM_000059.3(BRCA2):c.6832_6833insAA:p.Ile2278fs	coding	Pathogenic
13	32341191	TA	CTTTGTGGTAAGTTT	T32341191C	BRCA2	NM_000059.3(BRCA2):c.6836_6837delinsCTTTGTGGTAAGTTT:p.Leu2279delinsSerLeuTrpTer	coding	Pathogenic
13	32341194	TG	T	G32341197T	BRCA2	NM_000059.3(BRCA2):c.6841+1del	coding	Pathogenic
13	32341194	T	TA	G32341195A	BRCA2	NM_000059.3(BRCA2):c.6839_6840insA:p.Glu2282fs	coding	Pathogenic
13	32341273	CAATT	C	T32341276G	BRCA2	NM_000059.3(BRCA2):c.6841+80_6841+83del	noncoding	Benign
13	32342270	CAA	C	A32342287G	BRCA2	NM_000059.3(BRCA2):c.6841+1091_6841+1092del	noncoding	Benign
13	32343709	GA	G	A32343719C	BRCA2	NM_000059.3(BRCA2):c.6842-839del	noncoding	Benign
13	32343709	G	GA	C32343720A	BRCA2	NM_000059.3(BRCA2):c.6842-839dup	noncoding	Benign
13	32344166	GA	G	A32344183G	BRCA2	NM_000059.3(BRCA2):c.6842-375del	noncoding	Benign
13	32344366	CA	C	A32344367G	BRCA2	NM_000059.3(BRCA2):c.6842-191del	noncoding	Benign
13	32344562	AC	A	C32344565T	BRCA2	NM_000059.3(BRCA2):c.6849del:p.Ser2284fs	coding	Pathogenic/Likely_pathogenic
13	32344592	AT	A	T32344595G	BRCA2	NM_000059.3(BRCA2):c.6879del:p.Phe2293fs	coding	Pathogenic/Likely_pathogenic
13	32344598	CAGGAT	C	G32344600A	BRCA2	NM_000059.3(BRCA2):c.6884_6888del:p.Arg2295fs	coding	Pathogenic/Likely_pathogenic
13	32344608	G	GA	T32344613A	BRCA2	NM_000059.3(BRCA2):c.6896dup:p.Asn2299fs	coding	Pathogenic
13	32344614	C	CAAGAAAAA	T32344623A	BRCA2	NM_000059.3(BRCA2):c.6899_6906dup:p.Ser2303fs	coding	Pathogenic
13	32344636	CA	C	A32344641G	BRCA2	NM_000059.4(BRCA2):c.6925del:p.Ser2309fs	coding	Pathogenic
13	32346184	G	GT	C32346194T	BRCA2	NM_000059.3(BRCA2):c.6938-634dup	noncoding	Benign
13	32346795	CTAATATG	C	G32346802A	BRCA2	NM_000059.3(BRCA2):c.6938-25_6938-19del	noncoding	Benign/Likely_benign
13	32346829	A	AC	A32346831C	BRCA2	NM_000059.4(BRCA2):c.6941dup:p.Ile2315fs	coding	Pathogenic
13	32346829	AC	A	C32346830A	BRCA2	NM_000059.3(BRCA2):c.6941del:p.Thr2314fs	coding	Pathogenic
13	32346830	CAATA	C	T32346833A	BRCA2	NM_000059.3(BRCA2):c.6944_6947del:p.Ile2315fs	coding	Pathogenic
13	32346834	AAAAG	A	A32346836T	BRCA2	NM_000059.3(BRCA2):c.6947_6950del:p.Lys2316fs	coding	Pathogenic
13	32346836	A	ATT	A32346837T	BRCA2	NM_000059.3(BRCA2):c.6947_6948insTT:p.Lys2316fs	coding	Pathogenic
13	32346837	A	ATT	G32346838T	BRCA2	NM_000059.3(BRCA2):c.6948_6949insTT:p.Asp2317fs	coding	Pathogenic
13	32346846	AT	A	T32346848G	BRCA2	NM_000059.3(BRCA2):c.6959del:p.Leu2320fs	coding	Pathogenic
13	32346848	TG	T	G32346849T	BRCA2	NM_000059.3(BRCA2):c.6960del:p.Leu2320fs	coding	Pathogenic
13	32346859	CAT	C	A32346860G	BRCA2	NM_000059.3(BRCA2):c.6971_6972del:p.His2324fs	coding	Pathogenic
13	32346862	GT	G	T32346865C	BRCA2	NM_000059.3(BRCA2):c.6976del:p.Ser2326fs	coding	Pathogenic
13	32346862	GTT	G	T32346864C	BRCA2	NM_000059.3(BRCA2):c.6975_6976del:p.Ser2326fs	coding	Pathogenic
13	32346865	TCTTTAGAGCCGATTACCTGTGTACC	T	A32346870C	BRCA2	NM_000059.3(BRCA2):c.6981_7005del:p.Leu2327fs	coding	Pathogenic
13	32346866	CT	C	T32346869A	BRCA2	NM_000059.3(BRCA2):c.6980del:p.Ser2326_Leu2327insTer	coding	Pathogenic
13	32346869	TAG	T	A32346872C	BRCA2	NM_000059.4(BRCA2):c.6981_6982AG[1]:p.Glu2328fs	coding	Pathogenic
13	32346874	CCGATT	C	C32346875A	BRCA2	NM_000059.3(BRCA2):c.6986_6990del:p.Pro2329fs	coding	Pathogenic
13	32346876	GAT	TGTG	G32346876T	BRCA2	NM_000059.3(BRCA2):c.6987_6989delinsTGTG:p.Ile2330fs	coding	Pathogenic
13	32346877	A	AT	A32346880T	BRCA2	NM_000059.3(BRCA2):c.6990dup:p.Thr2331fs	coding	Pathogenic
13	32346877	ATTACC	A	T32346879G	BRCA2	NM_000059.3(BRCA2):c.6990_6994del:p.Ile2330fs	coding	Pathogenic
13	32346879	TACCTGTGTACCCTTTCGGTAAG	T	C32346882A	BRCA2	NM_000059.3(BRCA2):c.6993_7007+7del	coding	Pathogenic
13	32346882	C	CTG	A32346888G	BRCA2	NM_000059.4(BRCA2):c.6995_6996GT[3]:p.Pro2334fs	coding	Pathogenic
13	32346882	CTG	C	G32346886A	BRCA2	NM_000059.4(BRCA2):c.6995_6996GT[1]:p.Val2333fs	coding	Pathogenic
13	32346884	GT	G	T32346885G	BRCA2	NM_000059.3(BRCA2):c.6996del:p.Cys2332fs	coding	Pathogenic
13	32346886	G	GT	A32346888T	BRCA2	NM_000059.3(BRCA2):c.6998dup:p.Pro2334fs	coding	Pathogenic
13	32346888	A	AT	C32346889T	BRCA2	NM_000059.3(BRCA2):c.6999_7000insT:p.Pro2334fs	coding	Pathogenic
13	32346888	AC	A	C32346891T	BRCA2	NM_000059.3(BRCA2):c.7002del:p.Arg2336fs	coding	Pathogenic
13	32346891	CT	C	T32346894C	BRCA2	NM_000059.4(BRCA2):c.7005del:p.Arg2336fs	coding	Pathogenic
13	32346891	CTTTCG	C	T32346892G	BRCA2	NM_000059.3(BRCA2):c.7003_7007del:p.Phe2335fs	coding	Pathogenic
13	32346891	CTTTCGG	C	T32346893A	BRCA2	NM_000059.3(BRCA2):c.7004_7007+2del	coding	Pathogenic
13	32346894	TC	T	C32346895G	BRCA2	NM_000059.3(BRCA2):c.7006del:p.Arg2336fs	coding	Pathogenic
13	32346894	T	TC	G32346896C	BRCA2	NM_000059.3(BRCA2):c.7006dup:p.Arg2336fs	coding	Pathogenic
13	32347011	T	TTTTATAAAA	A32347031T	BRCA2	NM_000059.3(BRCA2):c.7007+116TTTATAAAA[3]	noncoding	Benign
13	32347734	A	AT	C32347744T	BRCA2	NM_000059.3(BRCA2):c.7007+847dup	noncoding	Benign
13	32348048	G	GA	T32348055A	BRCA2	NM_000059.3(BRCA2):c.7007+1158dup	noncoding	Benign
13	32348066	TAAG	T	G32348069C	BRCA2	NM_000059.3(BRCA2):c.7007+1173_7007+1175del	noncoding	Benign
13	32352925	A	AAT	G32352929T	BRCA2	NM_000059.3(BRCA2):c.7008-1934_7008-1933dup	noncoding	Benign
13	32353467	CTA	C	T32353468A	BRCA2	NM_000059.3(BRCA2):c.7008-1393_7008-1392del	noncoding	Benign
13	32353473	G	GTA	C32353474T	BRCA2	NM_000059.3(BRCA2):c.7008-1388_7008-1387insTA	noncoding	Benign
13	32353474	C	CA	C32353475A	BRCA2	NM_000059.3(BRCA2):c.7008-1387_7008-1386insA	noncoding	Benign
13	32354836	CTT	C	T32354837A	BRCA2	NM_000059.3(BRCA2):c.7008-24_7008-23del	noncoding	Benign/Likely_benign
13	32354869	AG	A	G32354871A	BRCA2	NM_000059.4(BRCA2):c.7018del:p.Glu2340fs	coding	Pathogenic
13	32354876	T	TTG	C32354877T	BRCA2	NM_000059.3(BRCA2):c.7023_7024insTG:p.Gln2342fs	coding	Pathogenic
13	32354877	CAA	C	A32354878G	BRCA2	NM_000059.3(BRCA2):c.7025_7026del:p.Gln2342fs	coding	Pathogenic
13	32354877	CAAGAGATACAGAATCCAAAT	TG	C32354877T	BRCA2	NM_000059.3(BRCA2):c.7024_7044delinsTG:p.Gln2342fs	coding	Pathogenic
13	32354877	CA	C	A32354879G	BRCA2	NM_000059.3(BRCA2):c.7026del:p.Glu2343fs	coding	Pathogenic
13	32354884	T	TA	C32354886A	BRCA2	NM_000059.3(BRCA2):c.7032dup:p.Gln2345fs	coding	Pathogenic
13	32354888	GA	G	A32354890T	BRCA2	NM_000059.3(BRCA2):c.7037del:p.Asn2346fs	coding	Pathogenic
13	32354896	AT	A	T32354900A	BRCA2	NM_000059.3(BRCA2):c.7047del:p.Phe2349fs	coding	Pathogenic
13	32354909	TG	T	G32354911T	BRCA2	NM_000059.4(BRCA2):c.7058del:p.Gly2353fs	coding	Pathogenic
13	32354918	A	AT	C32354922T	BRCA2	NM_000059.3(BRCA2):c.7068dup:p.Leu2357fs	coding	Pathogenic
13	32354918	ATT	A	T32354920C	BRCA2	NM_000059.3(BRCA2):c.7067_7068del:p.Phe2356fs	coding	Pathogenic
13	32354920	TTC	T	C32354922G	BRCA2	NM_000059.3(BRCA2):c.7069_7070del:p.Leu2357fs	coding	Pathogenic
13	32354933	T	TCATTTGTATGAACATCTGA	T32354954A	BRCA2	NM_000059.3(BRCA2):c.7082_7100dup:p.Leu2368_Glu2369insPheValTer	coding	Pathogenic
13	32354934	CATTTGTATGA	C	T32354936C	BRCA2	NM_000059.3(BRCA2):c.7083_7092del:p.Leu2362fs	coding	Pathogenic
13	32354943	GA	G	A32354945C	BRCA2	NM_000059.3(BRCA2):c.7092del:p.Glu2364fs	coding	Pathogenic
13	32354949	C	CT	G32354951T	BRCA2	NM_000059.3(BRCA2):c.7097dup:p.Thr2367fs	coding	Pathogenic
13	32354958	GAA	G	A32354962T	BRCA2	NM_000059.3(BRCA2):c.7109_7110del:p.Lys2370fs	coding	Pathogenic
13	32354958	GA	G	A32354963T	BRCA2	NM_000059.3(BRCA2):c.7110del:p.Lys2370fs	coding	Pathogenic
13	32354958	G	GA	T32354964A	BRCA2	NM_000059.3(BRCA2):c.7110dup:p.Ser2371fs	coding	Pathogenic
13	32354968	CAAGCA	GC	C32354968G	BRCA2	NM_000059.3(BRCA2):c.7115_7120delinsGC:p.Ser2372fs	coding	Pathogenic
13	32354993	TC	T	C32354995A	BRCA2	NM_000059.3(BRCA2):c.7142del:p.Pro2381fs	coding	Pathogenic
13	32354996	A	AT	A32355001T	BRCA2	NM_000059.3(BRCA2):c.7147dup:p.Tyr2383fs	coding	Pathogenic
13	32355003	CAA	C	A32355004G	BRCA2	NM_000059.3(BRCA2):c.7151_7152del:p.Gln2384fs	coding	Pathogenic
13	32355003	CA	C	A32355005G	BRCA2	NM_000059.3(BRCA2):c.7152del:p.Val2385fs	coding	Pathogenic
13	32355006	G	GT	C32355010T	BRCA2	NM_000059.3(BRCA2):c.7156dupT:p.Ser2386Phefs	coding	Pathogenic
13	32355016	CAAGAA	C	A32355018T	BRCA2	NM_000059.3(BRCA2):c.7165_7169del:p.Thr2388_Arg2389insTer	coding	Pathogenic
13	32355018	AG	A	G32355019A	BRCA2	NM_000059.3(BRCA2):c.7166del:p.Arg2389fs	coding	Pathogenic
13	32355024	G	GA	T32355031A	BRCA2	NM_000059.3(BRCA2):c.7177dup:p.Met2393fs	coding	Pathogenic
13	32355035	AC	A	C32355036A	BRCA2	NM_000059.3(BRCA2):c.7183del:p.His2395fs	coding	Pathogenic
13	32355036	CACTT	C	A32355037G	BRCA2	NM_000059.3(BRCA2):c.7184_7187del:p.His2395fs	coding	Pathogenic
13	32355038	C	CT	G32355041T	BRCA2	NM_000059.3(BRCA2):c.7187dup:p.Leu2396fs	coding	Pathogenic
13	32355038	CTT	C	T32355039G	BRCA2	NM_000059.3(BRCA2):c.7186_7187del:p.Leu2396fs	coding	Pathogenic/Likely_pathogenic
13	32355038	CTTGAT	AG	C32355038A	BRCA2	NM_000059.3(BRCA2):c.7185_7190delinsAG:p.His2395fs	coding	Pathogenic
13	32355042	A	AT	A32355045T	BRCA2	NM_000059.4(BRCA2):c.7191dup:p.Thr2398fs	coding	Pathogenic
13	32355042	AT	A	T32355044A	BRCA2	NM_000059.3(BRCA2):c.7191del:p.Thr2398fs	coding	Pathogenic
13	32355055	GACCA	G	C32355061A	BRCA2	NM_000059.4(BRCA2):c.7204_7207CCAA[1]:p.Thr2403fs	coding	Pathogenic
13	32355058	C	CA	C32355061A	BRCA2	NM_000059.4(BRCA2):c.7207dup:p.Thr2403fs	coding	Pathogenic
13	32355062	CAAA	GG	C32355062G	BRCA2	NM_000059.3(BRCA2):c.7209_7212delinsGG:p.Lys2404fs	coding	Pathogenic
13	32355062	CAA	C	A32355064G	BRCA2	NM_000059.3(BRCA2):c.7211_7212del:p.Lys2404fs	coding	Pathogenic
13	32355062	CA	C	A32355065G	BRCA2	NM_000059.3(BRCA2):c.7212del:p.Val2405fs	coding	Pathogenic
13	32355063	AAAGTCT	TG	A32355063T	BRCA2	NM_000059.3(BRCA2):c.7210_7216delinsTG:p.Lys2404fs	coding	Pathogenic
13	32355063	AAAGTCT	TGTAG	A32355063T	BRCA2	NM_000059.3(BRCA2):c.7210_7216delinsTGTAG:p.Lys2404fs	coding	Pathogenic
13	32355066	GTCTT	G	C32355068G	BRCA2	NM_000059.3(BRCA2):c.7215_7218del:p.Val2407fs	coding	Pathogenic
13	32355068	C	CT	G32355072T	BRCA2	NM_000059.3(BRCA2):c.7218dup:p.Val2407fs	coding	Pathogenic
13	32355068	CTT	C	T32355070G	BRCA2	NM_000059.3(BRCA2):c.7217_7218del:p.Phe2406fs	coding	Pathogenic
13	32355072	G	GTTCC	A32355077T	BRCA2	NM_000059.3(BRCA2):c.7220_7223dup:p.Pro2409fs	coding	Pathogenic
13	32355072	GTT	A	G32355072A	BRCA2	NM_000059.4(BRCA2):c.7219_7221delinsA:p.Val2407fs	coding	Pathogenic
13	32355073	TT	AA	T32355073A	BRCA2	NM_000059.4(BRCA2):c.7220_7221inv:p.Val2407Glu	coding	Pathogenic
13	32355076	CA	C	A32355077C	BRCA2	NM_000059.3(BRCA2):c.7224del:p.Pro2409fs	coding	Pathogenic
13	32355076	CACCT	C	A32355077T	BRCA2	NM_000059.3(BRCA2):c.7224_7227del:p.Pro2409fs	coding	Pathogenic
13	32355077	AC	A	C32355079T	BRCA2	NM_000059.3(BRCA2):c.7226del:p.Pro2409fs	coding	Pathogenic
13	32355079	CT	C	T32355083A	BRCA2	NM_000059.3(BRCA2):c.7230del:p.Phe2410fs	coding	Pathogenic
13	32355083	TA	T	A32355087C	BRCA2	NM_000059.3(BRCA2):c.7234del:p.Thr2412fs	coding	Pathogenic
13	32355086	A	AG	A32355087G	BRCA2	NM_000059.3(BRCA2):c.7233_7234insG:p.Thr2412fs	coding	Pathogenic
13	32355087	A	AG	C32355088G	BRCA2	NM_000059.3(BRCA2):c.7234_7235insG:p.Thr2412fs	coding	Pathogenic
13	32355088	C	CG	T32355089G	BRCA2	NM_000059.3(BRCA2):c.7235_7236insG:p.Thr2412_Lys2413insTer	coding	Pathogenic
13	32355088	CTAAA	C	A32355090C	BRCA2	NM_000059.3(BRCA2):c.7237_7240del:p.Lys2413fs	coding	Pathogenic
13	32355095	A	TAG	A32355095T	BRCA2	NM_000059.4(BRCA2):c.7242delinsTAG:p.His2415fs	coding	Pathogenic
13	32355097	AT	A	T32355101C	BRCA2	NM_000059.3(BRCA2):c.7248del:p.His2417fs	coding	Pathogenic
13	32355101	TCA	T	C32355104G	BRCA2	NM_000059.3(BRCA2):c.7249_7250CA[1]:p.His2417fs	coding	Pathogenic
13	32355104	CA	C	A32355105G	BRCA2	NM_000059.3(BRCA2):c.7252del:p.Arg2418fs	coding	Pathogenic
13	32355104	CAG	C	A32355107T	BRCA2	NM_000059.3(BRCA2):c.7252_7253AG[1]:p.Arg2418fs	coding	Pathogenic
13	32355115	AGT	A	G32355120T	BRCA2	NM_000059.4(BRCA2):c.7263_7264GT[2]:p.Cys2422_Val2423insTer	coding	Pathogenic
13	32355129	ATTAAC	A	A32355132G	BRCA2	NM_000059.3(BRCA2):c.7279_7283del:p.Asn2427fs	coding	Pathogenic
13	32355129	ATTAACTT	A	T32355130G	BRCA2	NM_000059.3(BRCA2):c.7277_7283del:p.Ile2426fs	coding	Pathogenic
13	32355134	CT	C	T32355136G	BRCA2	NM_000059.3(BRCA2):c.7283del:p.Leu2428fs	coding	Pathogenic
13	32355136	TG	T	G32355138A	BRCA2	NM_000059.3(BRCA2):c.7285del:p.Glu2429fs	coding	Pathogenic
13	32355150	CA	C	A32355154G	BRCA2	NM_000059.3(BRCA2):c.7301del:p.Lys2434fs	coding	Pathogenic
13	32355160	AC	A	C32355161A	BRCA2	NM_000059.3(BRCA2):c.7308del:p.Asn2436fs	coding	Pathogenic
13	32355161	CA	C	A32355162T	BRCA2	NM_000059.3(BRCA2):c.7309del:p.Ile2437fs	coding	Pathogenic
13	32355173	TG	T	G32355175C	BRCA2	NM_000059.3(BRCA2):c.7322del:p.Gly2441fs	coding	Pathogenic
13	32355183	GA	G	A32355184T	BRCA2	NM_000059.3(BRCA2):c.7331del:p.Asp2444fs	coding	Pathogenic
13	32355188	T	TA	T32355194A	BRCA2	NM_000059.4(BRCA2):c.7340dup:p.Asn2447fs	coding	Pathogenic
13	32355192	AAT	A	T32355194A	BRCA2	NM_000059.3(BRCA2):c.7341_7342del:p.Asn2447fs	coding	Pathogenic
13	32355194	TAA	T	A32355195G	BRCA2	NM_000059.3(BRCA2):c.7342_7343del:p.Lys2448fs	coding	Pathogenic
13	32355201	AATGAC	A	T32355203A	BRCA2	NM_000059.3(BRCA2):c.7350_7354del:p.Asn2450fs	coding	Pathogenic
13	32355206	CA	C	A32355208T	BRCA2	NM_000059.3(BRCA2):c.7355del:p.Asn2452fs	coding	Pathogenic
13	32355212	GA	G	A32355213T	BRCA2	NM_000059.3(BRCA2):c.7360del:p.Ile2454fs	coding	Pathogenic
13	32355215	TC	T	C32355216A	BRCA2	NM_000059.3(BRCA2):c.7363del:p.His2455fs	coding	Pathogenic
13	32355220	AGTTT	A	G32355221A	BRCA2	NM_000059.3(BRCA2):c.7368_7371del:p.Phe2457fs	coding	Pathogenic
13	32355227	CA	C	A32355232C	BRCA2	NM_000059.3(BRCA2):c.7379del:p.Asn2460fs	coding	Pathogenic
13	32355227	C	CA	C32355233A	BRCA2	NM_000059.3(BRCA2):c.7379dup:p.Asn2460fs	coding	Pathogenic
13	32355229	AAAAC	A	A32355232C	BRCA2	NM_000059.3(BRCA2):c.7379_7382del:p.Asn2460fs	coding	Pathogenic
13	32355231	A	AG	A32355232G	BRCA2	NM_000059.3(BRCA2):c.7378_7379insG:p.Asn2460fs	coding	Pathogenic
13	32355232	A	AG	C32355233G	BRCA2	NM_000059.3(BRCA2):c.7379_7380insG:p.Asn2460fs	coding	Pathogenic
13	32355233	CA	C	A32355235C	BRCA2	NM_000059.3(BRCA2):c.7382del:p.Asn2461fs	coding	Pathogenic
13	32355233	C	CG	A32355234G	BRCA2	NM_000059.3(BRCA2):c.7380_7381insG:p.Asn2461fs	coding	Pathogenic
13	32355238	CCAAT	C	T32355242G	BRCA2	NM_000059.3(BRCA2):c.7389_7392del:p.Asn2463fs	coding	Pathogenic
13	32355239	CA	C	A32355241T	BRCA2	NM_000059.3(BRCA2):c.7388del:p.Asn2463fs	coding	Pathogenic
13	32355245	AG	A	G32355246C	BRCA2	NM_000059.4(BRCA2):c.7393del:p.Ala2465fs	coding	Pathogenic
13	32355248	AG	A	G32355249T	BRCA2	NM_000059.4(BRCA2):c.7396del:p.Ala2465_Val2466insTer	coding	Pathogenic
13	32355259	C	CT	C32355263T	BRCA2	NM_000059.3(BRCA2):c.7409dup:p.Thr2471fs	coding	Pathogenic
13	32355259	CTT	C	T32355261C	BRCA2	NM_000059.3(BRCA2):c.7408_7409del:p.Phe2470fs	coding	Pathogenic
13	32355263	CACAAAGTGTG	C	C32355265A	BRCA2	NM_000059.3(BRCA2):c.7412_7421del:p.Thr2471fs	coding	Pathogenic
13	32355265	CAA	C	A32355267G	BRCA2	NM_000059.3(BRCA2):c.7414_7415del:p.Lys2472fs	coding	Pathogenic
13	32355265	CA	C	A32355268G	BRCA2	NM_000059.3(BRCA2):c.7415del:p.Lys2472fs	coding	Pathogenic
13	32355268	AGT	A	T32355272A	BRCA2	NM_000059.3(BRCA2):c.7417_7418TG[1]:p.Cys2473_Glu2474delinsTer	coding	Pathogenic
13	32355276	GA	G	A32355278G	BRCA2	NM_000059.3(BRCA2):c.7425del:p.Glu2476fs	coding	Pathogenic
13	32355283	C	CT	A32355287T	BRCA2	NM_000059.3(BRCA2):c.7433dup:p.Leu2478fs	coding	Pathogenic
13	32355286	T	TA	G32355288A	BRCA2	NM_000059.3(BRCA2):c.7434dup:p.Asp2479fs	coding	Pathogenic
13	32356433	AT	A	T32356435A	BRCA2	NM_000059.3(BRCA2):c.7443del:p.Thr2482fs	coding	Pathogenic
13	32356437	CA	C	A32356439G	BRCA2	NM_000059.3(BRCA2):c.7447del:p.Ser2483fs	coding	Pathogenic
13	32356446	AGAATGCCAGAGATATACAGGATATGC	A	G32356451T	BRCA2	NM_000059.3(BRCA2):c.7459_7484del:p.Asn2486_Ala2487insTer	coding	Pathogenic
13	32356455	G	GAT	G32356457T	BRCA2	NM_000059.3(BRCA2):c.7464_7465insTA:p.Asp2489Ter	coding	Pathogenic
13	32356455	G	GTA	A32356456T	BRCA2	NM_000059.3(BRCA2):c.7463_7464insTA:p.Arg2488fs	coding	Pathogenic
13	32356458	A	AT	A32356460T	BRCA2	NM_000059.3(BRCA2):c.7467dup:p.Ile2490fs	coding	Pathogenic
13	32356460	A	AT	A32356462T	BRCA2	NM_000059.3(BRCA2):c.7469dup:p.Gln2491fs	coding	Pathogenic
13	32356460	AT	A	T32356461A	BRCA2	NM_000059.3(BRCA2):c.7469del:p.Ile2490fs	coding	Pathogenic
13	32356462	AC	A	C32356463A	BRCA2	NM_000059.3(BRCA2):c.7471del:p.Gln2491fs	coding	Pathogenic
13	32356465	GGA	G	G32356466T	BRCA2	NM_000059.3(BRCA2):c.7474_7475del:p.Asp2492fs	coding	Pathogenic
13	32356475	A	AT	A32356478T	BRCA2	NM_000059.3(BRCA2):c.7485dup:p.Lys2496Ter	coding	Pathogenic
13	32356475	AT	A	T32356477A	BRCA2	NM_000059.3(BRCA2):c.7485del:p.Lys2496fs	coding	Pathogenic
13	32356476	T	TA	T32356477A	BRCA2	NM_000059.3(BRCA2):c.7484_7485insA:p.Ile2495_Lys2496insTer	coding	Pathogenic
13	32356477	T	TA	G32356480A	BRCA2	NM_000059.3(BRCA2):c.7487dup:p.Lys2497fs	coding	Pathogenic
13	32356478	A	AT	A32356479T	BRCA2	NM_000059.3(BRCA2):c.7486_7487insT:p.Lys2496fs	coding	Pathogenic
13	32356490	AG	A	G32356492C	BRCA2	NM_000059.3(BRCA2):c.7500del:p.Arg2500fs	coding	Pathogenic
13	32356494	AACGC	A	A32356495G	BRCA2	NM_000059.3(BRCA2):c.7503_7506del:p.Arg2502fs	coding	Pathogenic
13	32356495	ACGCGTCTT	A	C32356496T	BRCA2	NM_000059.3(BRCA2):c.7504_7511del:p.Arg2502fs	coding	Pathogenic
13	32356499	G	GTCTT	C32356506T	BRCA2	NM_000059.3(BRCA2):c.7510_7513dup:p.Pro2505fs	coding	Pathogenic
13	32356500	TCTTTCCACAGCCA	G	T32356500G	BRCA2	NM_000059.3(BRCA2):c.7508_7521delinsG:p.Val2503fs	coding	Pathogenic
13	32356508	C	CA	G32356510A	BRCA2	NM_000059.3(BRCA2):c.7517dup:p.Pro2507fs	coding	Pathogenic
13	32356509	AG	A	G32356510C	BRCA2	NM_000059.3(BRCA2):c.7518del:p.Gln2506fs	coding	Pathogenic
13	32356516	C	CA	G32356518A	BRCA2	NM_000059.3(BRCA2):c.7525dup:p.Ser2509fs	coding	Pathogenic
13	32356516	C	CT	A32356517T	BRCA2	NM_000059.3(BRCA2):c.7524_7525insT:p.Ser2509Ter	coding	Pathogenic
13	32356520	CTG	C	G32356522A	BRCA2	NM_000059.3(BRCA2):c.7530_7531del:p.Tyr2511fs	coding	Pathogenic
13	32356529	GCAAAAACATC	G	A32356532C	BRCA2	NM_000059.4(BRCA2):c.7540_7549del:p.Lys2514fs	coding	Pathogenic
13	32356529	GC	G	C32356530A	BRCA2	NM_000059.3(BRCA2):c.7538del:p.Ala2513fs	coding	Pathogenic
13	32356530	CA	C	A32356535C	BRCA2	NM_000059.3(BRCA2):c.7543del:p.Thr2515fs	coding	Pathogenic
13	32356530	C	CA	C32356536A	BRCA2	NM_000059.3(BRCA2):c.7543dup:p.Thr2515fs	coding	Pathogenic
13	32356535	AC	A	C32356536A	BRCA2	NM_000059.3(BRCA2):c.7544del:p.Thr2515fs	coding	Pathogenic
13	32356539	CCA	C	A32356541T	BRCA2	NM_000059.3(BRCA2):c.7549_7550del:p.Thr2517fs	coding	Pathogenic
13	32356546	G	GC	T32356549C	BRCA2	NM_000059.3(BRCA2):c.7556dup:p.Arg2520fs	coding	Pathogenic
13	32356549	TC	T	C32356550G	BRCA2	NM_000059.3(BRCA2):c.7558del:p.Arg2520fs	coding	Pathogenic
13	32356551	GA	G	A32356553T	BRCA2	NM_000059.3(BRCA2):c.7561del:p.Ile2521fs	coding	Pathogenic
13	32356553	ATC	A	C32356559G	BRCA2	NM_000059.3(BRCA2):c.7563_7564CT[2]:p.Leu2523fs	coding	Pathogenic
13	32356553	ATCTC	A	C32356557G	BRCA2	NM_000059.3(BRCA2):c.7563_7564CT[1]:p.Ile2521_Ser2522insTer	coding	Pathogenic
13	32356561	G	GA	G32356565A	BRCA2	NM_000059.3(BRCA2):c.7572dup:p.Ala2525fs	coding	Pathogenic
13	32356566	CA	C	A32356567G	BRCA2	NM_000059.3(BRCA2):c.7575del:p.Ala2526fs	coding	Pathogenic
13	32356569	CAG	C	A32356570T	BRCA2	NM_000059.4(BRCA2):c.7578_7579del:p.Val2527fs	coding	Pathogenic
13	32356570	A	AGTAG	A32356576T	BRCA2	NM_000059.3(BRCA2):c.7580_7583dup:p.Gly2529fs	coding	Pathogenic
13	32356570	AG	A	G32356571T	BRCA2	NM_000059.3(BRCA2):c.7579del:p.Ala2526_Val2527insTer	coding	Pathogenic
13	32356571	G	GT	A32356573T	BRCA2	NM_000059.3(BRCA2):c.7580dup:p.Gly2528fs	coding	Pathogenic
13	32356576	AG	A	G32356578C	BRCA2	NM_000059.4(BRCA2):c.7586del:p.Gly2529fs	coding	Pathogenic
13	32356578	GC	G	C32356580A	BRCA2	NM_000059.3(BRCA2):c.7588del:p.Gln2530fs	coding	Pathogenic
13	32356583	GT	G	T32356585C	BRCA2	NM_000059.3(BRCA2):c.7593del:p.Ser2533fs	coding	Pathogenic
13	32356586	CCCTCTGCGTGTTCT	C	C32356588A	BRCA2	NM_000059.3(BRCA2):c.7596_7609del:p.Pro2532_Ser2533insTer	coding	Pathogenic
13	32356586	C	CTT	C32356587T	BRCA2	NM_000059.3(BRCA2):c.7594_7595insTT:p.Pro2532fs	coding	Pathogenic
13	32356587	C	CTT	C32356588T	BRCA2	NM_000059.3(BRCA2):c.7595_7596insTT:p.Ala2534fs	coding	Pathogenic
13	32356588	CTCTGCGTGTTCTCATAAACAGGTATGTGTTTGTCTACAATACTGATGGCTTTTATGACAGAGTGTAATTTTATTTCATTAACTAGTATCTACAAATGGCTTTGTTTAAAGAATGAACACATTAGTGCAGGAATGGATGAATGAAATCATCATATTTTCTAATTAGCCTGCAGTGGCAGCCTCTGGCCCCTTGCTAGGCCTGCCTCATCCTGCTAAAGTGATCTGTGCTTCCAAATTACTACTTCTTTTCCCCCTTCAAATCTTTCTTATTTTGTCATTGTAAA	C	C32356590G	BRCA2	NM_000059.3(BRCA2):c.7598_7617+263del	coding	Pathogenic
13	32356593	CG	C	G32356594T	BRCA2	NM_000059.3(BRCA2):c.7602del:p.Cys2535fs	coding	Pathogenic
13	32356603	T	TAA	C32356607A	BRCA2	NM_000059.3(BRCA2):c.7613_7614dup:p.Gln2539fs	coding	Pathogenic
13	32356608	AG	A	G32356610T	BRCA2	NM_000059.3(BRCA2):c.7617+1del	coding	Pathogenic
13	32357747	T	TA	C32357749A	BRCA2	NM_000059.3(BRCA2):c.7624dup:p.Thr2542fs	coding	Pathogenic
13	32357750	G	GT	A32357752T	BRCA2	NM_000059.3(BRCA2):c.7627dup:p.Tyr2543fs	coding	Pathogenic
13	32357750	GTATGGCGTTTC	T	G32357750T	BRCA2	NM_000059.3(BRCA2):c.7626_7637delinsT:p.Thr2542_Tyr2543insTer	coding	Pathogenic
13	32357753	TG	T	G32357755C	BRCA2	NM_000059.3(BRCA2):c.7631del:p.Gly2544fs	coding	Pathogenic
13	32357757	GTTTCTAAACA	G	T32357760G	BRCA2	NM_000059.3(BRCA2):c.7636_7645del:p.Ser2546fs	coding	Pathogenic
13	32357760	TCTAAACATTG	T	T32357762A	BRCA2	NM_000059.3(BRCA2):c.7638_7647del:p.Ser2546_Lys2547insTer	coding	Pathogenic
13	32357766	CAT	C	A32357767T	BRCA2	NM_000059.3(BRCA2):c.7643_7644del:p.His2548fs	coding	Pathogenic
13	32357773	T	TA	T32357779A	BRCA2	NM_000059.3(BRCA2):c.7654dup:p.Ile2552fs	coding	Pathogenic
13	32357776	AAATT	A	T32357779C	BRCA2	NM_000059.3(BRCA2):c.7655_7658del:p.Ile2552fs	coding	Pathogenic
13	32357780	TA	T	A32357782C	BRCA2	NM_000059.4(BRCA2):c.7658del:p.Asn2553fs	coding	Pathogenic
13	32357786	CA	C	A32357791T	BRCA2	NM_000059.4(BRCA2):c.7667del:p.Asn2556fs	coding	Pathogenic
13	32357786	C	CAA	T32357792A	BRCA2	NM_000059.3(BRCA2):c.7666_7667dup:p.Asn2556fs	coding	Pathogenic
13	32357786	C	CA	T32357792A	BRCA2	NM_000059.3(BRCA2):c.7667dup:p.Asn2556fs	coding	Pathogenic
13	32357792	T	TA	G32357793A	BRCA2	NM_000059.3(BRCA2):c.7668_7669insA:p.Ala2557fs	coding	Pathogenic
13	32357794	CA	C	A32357795G	BRCA2	NM_000059.3(BRCA2):c.7671del:p.Glu2558fs	coding	Pathogenic
13	32357794	CAG	C	A32357797T	BRCA2	NM_000059.4(BRCA2):c.7671_7672AG[1]:p.Glu2558fs	coding	Pathogenic
13	32357794	C	CAG	T32357799A	BRCA2	NM_000059.3(BRCA2):c.7671_7672AG[3]:p.Phe2560fs	coding	Pathogenic
13	32357796	GA	G	A32357797G	BRCA2	NM_000059.3(BRCA2):c.7673del:p.Glu2558fs	coding	Pathogenic
13	32357798	G	GAAAC	T32357799A	BRCA2	NM_000059.3(BRCA2):c.7674_7675insAAAC:p.Ser2559fs	coding	Pathogenic
13	32357798	GTC	G	C32357800T	BRCA2	NM_000059.3(BRCA2):c.7676_7677del:p.Ser2559fs	coding	Pathogenic
13	32357800	C	CT	C32357805T	BRCA2	NM_000059.3(BRCA2):c.7680dupT:p.Gln2561Serfs	coding	Pathogenic
13	32357800	CT	C	T32357804C	BRCA2	NM_000059.3(BRCA2):c.7680del:p.Gln2561fs	coding	Pathogenic
13	32357800	CTT	C	T32357803C	BRCA2	NM_000059.3(BRCA2):c.7679_7680del:p.Phe2560fs	coding	Pathogenic
13	32357805	C	CT	A32357806T	BRCA2	NM_000059.3(BRCA2):c.7681_7682insT:p.Gln2561fs	coding	Pathogenic
13	32357806	AGT	A	G32357807T	BRCA2	NM_000059.3(BRCA2):c.7683_7684del:p.Gln2561fs	coding	Pathogenic
13	32357812	AC	A	C32357813A	BRCA2	NM_000059.3(BRCA2):c.7689del:p.His2563fs	coding	Pathogenic
13	32357820	G	GA	T32357822A	BRCA2	NM_000059.3(BRCA2):c.7697dup:p.Asp2566fs	coding	Pathogenic
13	32357828	TG	T	G32357830T	BRCA2	NM_000059.3(BRCA2):c.7706del:p.Gly2569fs	coding	Pathogenic
13	32357830	GT	G	T32357831A	BRCA2	NM_000059.3(BRCA2):c.7707del:p.Lys2570fs	coding	Pathogenic
13	32357842	T	TA	T32357844A	BRCA2	NM_000059.3(BRCA2):c.7719dup:p.Trp2574fs	coding	Pathogenic
13	32357851	GA	G	A32357855G	BRCA2	NM_000059.4(BRCA2):c.7731del:p.Gly2578fs	coding	Pathogenic
13	32357858	AATACA	CTGATGGTG	A32357858C	BRCA2	NM_000059.3(BRCA2):c.7734_7739delinsCTGATGGTG:p.Ile2579_Gln2580delinsTer	coding	Pathogenic
13	32357862	C	CA	G32357864A	BRCA2	NM_000059.4(BRCA2):c.7739dup:p.Leu2581fs	coding	Pathogenic
13	32357865	TTGGCTGA	T	C32357869T	BRCA2	NM_000059.3(BRCA2):c.7745_7751del:p.Ala2582fs	coding	Pathogenic
13	32357866	TG	T	G32357868C	BRCA2	NM_000059.3(BRCA2):c.7744del:p.Ala2582fs	coding	Pathogenic
13	32357873	TG	T	G32357875T	BRCA2	NM_000059.3(BRCA2):c.7751del:p.Gly2584fs	coding	Pathogenic
13	32357881	G	GGC	T32357884G	BRCA2	NM_000059.3(BRCA2):c.7758_7759dup:p.Leu2587fs	coding	Pathogenic
13	32357884	TC	T	C32357885A	BRCA2	NM_000059.3(BRCA2):c.7761del:p.Ile2588fs	coding	Pathogenic
13	32357884	T	TCATAC	C32357891A	BRCA2	NM_000059.3(BRCA2):c.7762_7766dup:p.Ser2590fs	coding	Pathogenic
13	32357885	CA	C	A32357886T	BRCA2	NM_000059.3(BRCA2):c.7762del:p.Ile2588fs	coding	Pathogenic
13	32357886	ATA	TT	A32357886T	BRCA2	NM_000059.4(BRCA2):c.7762_7764delinsTT:p.Ile2588fs	coding	Pathogenic
13	32357902	G	GA	G32357906A	BRCA2	NM_000059.3(BRCA2):c.7781dup:p.Ala2595fs	coding	Pathogenic
13	32357911	GA	G	A32357915G	BRCA2	NM_000059.3(BRCA2):c.7791del:p.Glu2598fs	coding	Pathogenic
13	32357911	G	GA	G32357916A	BRCA2	NM_000059.3(BRCA2):c.7791dup:p.Glu2598fs	coding	Pathogenic
13	32362520	C	CAG	G32362523A	BRCA2	NM_000059.3(BRCA2):c.7806-2_7806-1dup	noncoding	Pathogenic
13	32362522	G	GGA	G32362524A	BRCA2	NM_000059.3(BRCA2):c.7806_7807insAG:p.Ala2603fs	coding	Pathogenic
13	32362527	CTG	C	T32362532A	BRCA2	NM_000059.3(BRCA2):c.7811_7812TG[2]:p.Cys2605_Asp2606delinsTer	coding	Pathogenic
13	32362532	T	TG	A32362534G	BRCA2	NM_000059.3(BRCA2):c.7816dup:p.Asp2606fs	coding	Pathogenic
13	32362532	T	TGACA	C32362537G	BRCA2	NM_000059.3(BRCA2):c.7816_7819dup:p.Thr2607fs	coding	Pathogenic
13	32362535	CA	C	A32362536C	BRCA2	NM_000059.3(BRCA2):c.7819del:p.Thr2607fs	coding	Pathogenic
13	32362538	T	TC	A32362541C	BRCA2	NM_000059.3(BRCA2):c.7823dup:p.Gly2609fs	coding	Pathogenic
13	32362545	G	GT	G32362547T	BRCA2	NM_000059.3(BRCA2):c.7829dup:p.Asp2611fs	coding	Pathogenic
13	32362550	TCCAAAGCTTA	G	T32362550G	BRCA2	NM_000059.3(BRCA2):c.7833_7843delinsG:p.Asp2611fs	coding	Pathogenic
13	32362550	TCCAAAGCTTATTTC	GTTTA	T32362550G	BRCA2	NM_000059.4(BRCA2):c.7833_7847delinsGTTTA:p.Asp2611fs	coding	Pathogenic
13	32362558	TTA	T	A32362560T	BRCA2	NM_000059.3(BRCA2):c.7843_7844del:p.Ile2615fs	coding	Pathogenic
13	32362560	AT	A	T32362563C	BRCA2	NM_000059.3(BRCA2):c.7846del:p.Ser2616fs	coding	Pathogenic
13	32362563	TC	T	C32362564T	BRCA2	NM_000059.3(BRCA2):c.7847del:p.Ser2616fs	coding	Pathogenic
13	32362569	A	AT	G32362573T	BRCA2	NM_000059.3(BRCA2):c.7855dup:p.Trp2619fs	coding	Pathogenic
13	32362569	AT	A	T32362572G	BRCA2	NM_000059.4(BRCA2):c.7855del:p.Trp2619fs	coding	Pathogenic
13	32362572	TG	T	G32362575T	BRCA2	NM_000059.3(BRCA2):c.7858del:p.Val2620fs	coding	Pathogenic
13	32362575	GT	G	T32362578A	BRCA2	NM_000059.3(BRCA2):c.7861del:p.Tyr2621fs	coding	Pathogenic
13	32362580	T	TA	T32362583A	BRCA2	NM_000059.3(BRCA2):c.7865dup:p.Asn2622fs	coding	Pathogenic
13	32362586	CTA	C	T32362589G	BRCA2	NM_000059.3(BRCA2):c.7870_7871TA[1]:p.Tyr2624_Arg2625delinsTer	coding	Pathogenic
13	32362591	G	GA	T32362593A	BRCA2	NM_000059.4(BRCA2):c.7875dup:p.Trp2626fs	coding	Pathogenic
13	32362593	TG	T	G32362595A	BRCA2	NM_000059.3(BRCA2):c.7878del:p.Arg2625_Trp2626insTer	coding	Pathogenic
13	32362594	G	GGATC	A32362599G	BRCA2	NM_000059.3(BRCA2):c.7878_7881dup:p.Ile2628fs	coding	Pathogenic
13	32362600	T	TA	T32362602A	BRCA2	NM_000059.3(BRCA2):c.7884dup:p.Trp2629fs	coding	Pathogenic
13	32362604	G	GAA	C32362608A	BRCA2	NM_000059.3(BRCA2):c.7889_7890dup:p.Leu2631fs	coding	Pathogenic
13	32362616	TA	T	A32362617T	BRCA2	NM_000059.3(BRCA2):c.7900del:p.Met2634fs	coding	Pathogenic
13	32362619	GG	TT	G32362619T	BRCA2	NM_000059.4(BRCA2):c.7902_7903delinsTT:p.Met2634_Glu2635delinsIleTer	coding	Pathogenic
13	32362626	GCCTTT	G	T32362630A	BRCA2	NM_000059.3(BRCA2):c.7913_7917del:p.Ala2637_Phe2638insTer	coding	Pathogenic
13	32362627	C	CGAAA	C32362628G	BRCA2	NM_000059.3(BRCA2):c.7910_7911insGAAA:p.Phe2638fs	coding	Pathogenic
13	32362628	C	CGAAA	T32362629G	BRCA2	NM_000059.3(BRCA2):c.7911_7912insGAAA:p.Phe2638fs	coding	Pathogenic
13	32362628	CT	C	T32362631C	BRCA2	NM_000059.3(BRCA2):c.7914del:p.Pro2639fs	coding	Pathogenic
13	32362635	AAGGAATTTGC	A	A32362636T	BRCA2	NM_000059.3(BRCA2):c.7919_7928del:p.Lys2640fs	coding	Pathogenic
13	32362638	GAATTT	AG	G32362638A	BRCA2	NM_000059.3(BRCA2):c.7921_7926delinsAG:p.Glu2641fs	coding	Pathogenic
13	32362640	AT	A	T32362643G	BRCA2	NM_000059.3(BRCA2):c.7926del:p.Phe2642fs	coding	Pathogenic
13	32362650	AG	A	G32362651A	BRCA2	NM_000059.4(BRCA2):c.7934del:p.Arg2645fs	coding	Pathogenic
13	32362654	G	GC	T32362657C	BRCA2	NM_000059.3(BRCA2):c.7939dup:p.Leu2647fs	coding	Pathogenic
13	32362657	T	TC	A32362658C	BRCA2	NM_000059.3(BRCA2):c.7940_7941insC:p.Ser2648fs	coding	Pathogenic
13	32362660	GC	G	C32362663A	BRCA2	NM_000059.3(BRCA2):c.7946del:p.Pro2649fs	coding	Pathogenic
13	32362663	C	CA	G32362665A	BRCA2	NM_000059.3(BRCA2):c.7947dup:p.Glu2650fs	coding	Pathogenic
13	32362665	GA	G	A32362668G	BRCA2	NM_000059.3(BRCA2):c.7951del:p.Arg2651fs	coding	Pathogenic
13	32362668	AG	A	G32362671T	BRCA2	NM_000059.3(BRCA2):c.7954del:p.Val2652fs	coding	Pathogenic
13	32362674	C	CTT	C32362677T	BRCA2	NM_000059.3(BRCA2):c.7958_7959dup:p.Leu2654fs	coding	Pathogenic/Likely_pathogenic
13	32362674	CT	C	T32362676C	BRCA2	NM_000059.4(BRCA2):c.7959del:p.Leu2654fs	coding	Pathogenic
13	32362679	TC	T	C32362680A	BRCA2	NM_000059.3(BRCA2):c.7963del:p.Gln2655fs	coding	Pathogenic
13	32362680	CA	C	A32362682C	BRCA2	NM_000059.3(BRCA2):c.7965del:p.Gln2655fs	coding	Pathogenic
13	32362695	CAA	C	A32362696G	BRCA2	NM_000059.3(BRCA2):c.7976+3_7976+4del	noncoding	Pathogenic
13	32363176	TAG	AA	T32363176A	BRCA2	NM_000059.3(BRCA2):c.7977-3_7977-1delinsAA	noncoding	Pathogenic/Likely_pathogenic
13	32363176	TA	T	A32363177G	BRCA2	NM_000059.3(BRCA2):c.7977-2del	noncoding	Pathogenic
13	32363177	AGATAT	A	T32363182C	BRCA2	NM_000059.3(BRCA2):c.7980_7984delTGATA	noncoding	Pathogenic
13	32363178	GATATGATACGGAA	G	A32363181T	BRCA2	NM_000059.3(BRCA2):c.7979_7991del:p.Tyr2660fs	coding	Pathogenic
13	32363185	T	TA	C32363187A	BRCA2	NM_000059.3(BRCA2):c.7984dup:p.Thr2662fs	coding	Pathogenic
13	32363186	A	AC	G32363188C	BRCA2	NM_000059.3(BRCA2):c.7985dup:p.Glu2663fs	coding	Pathogenic
13	32363187	CG	C	G32363189A	BRCA2	NM_000059.3(BRCA2):c.7987del:p.Glu2663fs	coding	Pathogenic
13	32363189	GA	G	A32363192T	BRCA2	NM_000059.3(BRCA2):c.7990del:p.Ile2664fs	coding	Pathogenic
13	32363199	GA	G	A32363201G	BRCA2	NM_000059.3(BRCA2):c.7999del:p.Ser2667fs	coding	Pathogenic
13	32363203	C	CAGAAGAT	C32363211A	BRCA2	NM_000059.3(BRCA2):c.8002_8008dup:p.Ser2670Ter	coding	Pathogenic
13	32363204	AG	TA	A32363204T	BRCA2	NM_000059.3(BRCA2):c.8002_8003delinsTA:p.Arg2668Ter	coding	Pathogenic
13	32363207	AGATCGGCTATAAAAAAGATAATG	A	T32363210A	BRCA2	NM_000059.3(BRCA2):c.8008_8030del:p.Ser2670fs	coding	Pathogenic
13	32363210	TC	T	C32363211G	BRCA2	NM_000059.3(BRCA2):c.8009del:p.Ser2670fs	coding	Pathogenic
13	32363211	CGGCTATAAAAAAGATAATGGAAA	C	C32363214G	BRCA2	NM_000059.3(BRCA2):c.8012_8034del:p.Ala2671fs	coding	Pathogenic
13	32363217	TAA	T	A32363222G	BRCA2	NM_000059.3(BRCA2):c.8020_8021del:p.Lys2674fs	coding	Pathogenic
13	32363217	TA	T	A32363223G	BRCA2	NM_000059.3(BRCA2):c.8021del:p.Lys2674fs	coding	Pathogenic
13	32363217	T	TA	G32363224A	BRCA2	NM_000059.3(BRCA2):c.8021dup:p.Ile2675fs	coding	Pathogenic
13	32363222	AAG	A	G32363224T	BRCA2	NM_000059.3(BRCA2):c.8022_8023del:p.Lys2674fs	coding	Pathogenic
13	32363229	TG	T	G32363231A	BRCA2	NM_000059.3(BRCA2):c.8029del:p.Glu2677fs	coding	Pathogenic
13	32363230	GGA	G	G32363231A	BRCA2	NM_000059.3(BRCA2):c.8029_8030del:p.Glu2677fs	coding	Pathogenic
13	32363231	GA	G	A32363234G	BRCA2	NM_000059.3(BRCA2):c.8032del:p.Arg2678fs	coding	Pathogenic
13	32363233	A	AAG	G32363236A	BRCA2	NM_000059.3(BRCA2):c.8032_8033dup:p.Asp2679fs	coding	Pathogenic
13	32363240	GAC	G	C32363244G	BRCA2	NM_000059.3(BRCA2):c.8040_8041CA[1]:p.Thr2681fs	coding	Pathogenic
13	32363248	T	TGCAAAAAC	A32363257G	BRCA2	NM_000059.3(BRCA2):c.8047_8054dup:p.Leu2686fs	coding	Pathogenic
13	32363250	CA	C	A32363255C	BRCA2	NM_000059.3(BRCA2):c.8053del:p.Thr2685fs	coding	Pathogenic
13	32363250	C	CAA	C32363256A	BRCA2	NM_000059.3(BRCA2):c.8052_8053dup:p.Thr2685fs	coding	Pathogenic
13	32363250	C	CA	C32363256A	BRCA2	NM_000059.3(BRCA2):c.8053dup:p.Thr2685fs	coding	Pathogenic
13	32363250	C	CT	A32363251T	BRCA2	NM_000059.3(BRCA2):c.8048_8049insT:p.Thr2685fs	coding	Pathogenic
13	32363251	A	AT	A32363252T	BRCA2	NM_000059.3(BRCA2):c.8049_8050insT:p.Lys2684Ter	coding	Pathogenic
13	32363254	AAC	A	A32363257T	BRCA2	NM_000059.4(BRCA2):c.8053_8054AC[1]:p.Leu2686fs	coding	Pathogenic
13	32363257	AC	A	C32363258T	BRCA2	NM_000059.3(BRCA2):c.8056del:p.Val2687fs	coding	Pathogenic
13	32363258	CT	C	T32363260G	BRCA2	NM_000059.3(BRCA2):c.8058del:p.Val2687fs	coding	Pathogenic
13	32363262	TTC	T	C32363266G	BRCA2	NM_000059.3(BRCA2):c.8062_8063CT[1]:p.Val2690fs	coding	Pathogenic
13	32363266	CTG	C	G32363270T	BRCA2	NM_000059.3(BRCA2):c.8066_8067GT[1]:p.Val2690fs	coding	Pathogenic
13	32363268	G	GTT	G32363270T	BRCA2	NM_000059.3(BRCA2):c.8067_8068insTT:p.Val2690fs	coding	Pathogenic
13	32363268	GT	G	T32363269G	BRCA2	NM_000059.3(BRCA2):c.8067del:p.Cys2689fs	coding	Pathogenic
13	32363270	G	GTT	C32363274T	BRCA2	NM_000059.3(BRCA2):c.8070_8071dup:p.Ser2691fs	coding	Pathogenic
13	32363272	TTC	T	C32363274G	BRCA2	NM_000059.3(BRCA2):c.8072_8073del:p.Val2690_Ser2691insTer	coding	Pathogenic
13	32363287	AT	A	T32363289G	BRCA2	NM_000059.3(BRCA2):c.8087del:p.Ser2695_Leu2696insTer	coding	Pathogenic
13	32363288	TTGAGCGCAAATATATC	T	G32363292A	BRCA2	NM_000059.3(BRCA2):c.8090_8105del:p.Ser2697fs	coding	Pathogenic
13	32363311	TTCTAGCAA	T	C32363313A	BRCA2	NM_000059.3(BRCA2):c.8111_8118del:p.Thr2703_Ser2704insTer	coding	Pathogenic
13	32363313	C	AGCAATAAAACTAGTAGTGCAGCTGAAACT	C32363313A	BRCA2	NM_000059.4(BRCA2):c.8111delinsAGCAATAAAACTAGTAGTGCAGCTGAAACT:p.Ser2704Ter	coding	Pathogenic
13	32363314	T	TA	G32363316A	BRCA2	NM_000059.3(BRCA2):c.8113dup:p.Ser2705fs	coding	Pathogenic
13	32363331	GT	G	T32363332G	BRCA2	NM_000059.3(BRCA2):c.8130del:p.Ser2710fs	coding	Pathogenic
13	32363342	CA	C	A32363347G	BRCA2	NM_000059.3(BRCA2):c.8145del:p.Val2716fs	coding	Pathogenic
13	32363348	GT	G	T32363349G	BRCA2	NM_000059.3(BRCA2):c.8147del:p.Val2716fs	coding	Pathogenic
13	32363360	G	GAACTTACAGATGGGTGGTATGCTGTTAAGGCCCAGTT	G32363399A	BRCA2	NM_000059.3(BRCA2):c.8160_8196dup:p.Asp2733delinsThrTyrArgTrpValValCysCysTer	coding	Pathogenic
13	32363365	TA	T	A32363366C	BRCA2	NM_000059.3(BRCA2):c.8164del:p.Thr2722fs	coding	Pathogenic
13	32363370	A	ATGGG	T32363378G	BRCA2	NM_000059.3(BRCA2):c.8172_8175dup:p.Tyr2726fs	coding	Pathogenic
13	32363376	GGTATGCTGTTA	TT	G32363376T	BRCA2	NM_000059.4(BRCA2):c.8174_8185delinsTT:p.Trp2725fs	coding	Pathogenic
13	32363390	GC	G	C32363393A	BRCA2	NM_000059.3(BRCA2):c.8191del:p.Gln2731fs	coding	Pathogenic
13	32363395	GTTAGATCC	G	T32363397C	BRCA2	NM_000059.3(BRCA2):c.8195_8202del:p.Leu2732fs	coding	Pathogenic
13	32363400	ATCCTCCCCTC	A	C32363402T	BRCA2	NM_000059.4(BRCA2):c.8200_8209del:p.Asp2733_Pro2734insTer	coding	Pathogenic
13	32363401	TC	T	C32363403T	BRCA2	NM_000059.4(BRCA2):c.8201del:p.Pro2734fs	coding	Pathogenic
13	32363404	TCC	T	C32363407T	BRCA2	NM_000059.3(BRCA2):c.8205_8206del:p.Leu2737fs	coding	Pathogenic
13	32363404	TC	T	C32363408T	BRCA2	NM_000059.3(BRCA2):c.8206del:p.Leu2736fs	coding	Pathogenic
13	32363404	T	TC	T32363409C	BRCA2	NM_000059.3(BRCA2):c.8206dup:p.Leu2736fs	coding	Pathogenic
13	32363407	CCT	C	C32363410T	BRCA2	NM_000059.4(BRCA2):c.8208_8209del:p.Leu2737fs	coding	Pathogenic
13	32363408	CT	C	T32363409C	BRCA2	NM_000059.3(BRCA2):c.8207del:p.Leu2736fs	coding	Pathogenic
13	32363409	T	TAG	C32363410A	BRCA2	NM_000059.3(BRCA2):c.8207_8208insAG:p.Leu2737fs	coding	Pathogenic
13	32363410	C	CAG	T32363411A	BRCA2	NM_000059.4(BRCA2):c.8208_8209insAG:p.Leu2737fs	coding	Pathogenic
13	32363411	T	TAG	T32363412A	BRCA2	NM_000059.4(BRCA2):c.8209_8210insAG:p.Leu2737Ter	coding	Pathogenic
13	32363413	AGCTG	A	G32363414T	BRCA2	NM_000059.4(BRCA2):c.8212_8215del:p.Ala2738fs	coding	Pathogenic
13	32363419	C	CT	A32363422T	BRCA2	NM_000059.3(BRCA2):c.8219dup:p.Leu2740fs	coding	Pathogenic
13	32363424	AG	A	G32363425A	BRCA2	NM_000059.3(BRCA2):c.8223del:p.Asn2742fs	coding	Pathogenic
13	32363429	G	GA	G32363430A	BRCA2	NM_000059.3(BRCA2):c.8227_8228insA:p.Gly2743fs	coding	Pathogenic
13	32363432	A	AGACT	A32363440T	BRCA2	NM_000059.4(BRCA2):c.8234_8237dup:p.Val2747fs	coding	Pathogenic
13	32363432	AGACT	A	T32363436A	BRCA2	NM_000059.3(BRCA2):c.8234_8237del:p.Leu2745fs	coding	Pathogenic
13	32363435	C	CT	G32363437T	BRCA2	NM_000059.3(BRCA2):c.8234dupT:p.Thr2746Aspfs	coding	Pathogenic
13	32363437	GAC	G	C32363439G	BRCA2	NM_000059.3(BRCA2):c.8237_8238del:p.Thr2746fs	coding	Pathogenic
13	32363439	CAGTT	C	A32363440G	BRCA2	NM_000059.3(BRCA2):c.8238_8241del:p.Gly2748fs	coding	Pathogenic
13	32363447	CAG	C	G32363449A	BRCA2	NM_000059.3(BRCA2):c.8247_8248del:p.Lys2750fs	coding	Pathogenic
13	32363449	GA	G	A32363451G	BRCA2	NM_000059.3(BRCA2):c.8249del:p.Lys2750fs	coding	Pathogenic
13	32363453	A	AT	A32363456T	BRCA2	NM_000059.3(BRCA2):c.8253dup:p.Ile2752fs	coding	Pathogenic
13	32363469	CA	C	A32363470G	BRCA2	NM_000059.4(BRCA2):c.8268del:p.Glu2757fs	coding	Pathogenic
13	32363471	GA	G	A32363473C	BRCA2	NM_000059.3(BRCA2):c.8271del:p.Glu2757fs	coding	Pathogenic
13	32363474	CT	TA	C32363474T	BRCA2	NM_000059.3(BRCA2):c.8272_8273delinsTA:p.Leu2758Ter	coding	Pathogenic
13	32363475	TGGTG	T	T32363478C	BRCA2	NM_000059.3(BRCA2):c.8276_8279del:p.Val2759fs	coding	Pathogenic
13	32363481	G	GCT	C32363487T	BRCA2	NM_000059.3(BRCA2):c.8281_8282TC[3]:p.Pro2762fs	coding	Pathogenic
13	32363485	TC	T	C32363487T	BRCA2	NM_000059.3(BRCA2):c.8285del:p.Pro2762fs	coding	Pathogenic
13	32363491	T	TG	C32363493G	BRCA2	NM_000059.3(BRCA2):c.8290dup:p.Ala2764fs	coding	Pathogenic
13	32363497	TAC	T	A32363500C	BRCA2	NM_000059.4(BRCA2):c.8298_8299del:p.Pro2767fs	coding	Pathogenic
13	32363497	T	TAC	C32363502A	BRCA2	NM_000059.3(BRCA2):c.8296_8297AC[3]:p.Pro2767fs	coding	Pathogenic
13	32363498	AC	A	C32363499A	BRCA2	NM_000059.3(BRCA2):c.8297del:p.Thr2766fs	coding	Pathogenic
13	32363502	CT	C	T32363503C	BRCA2	NM_000059.3(BRCA2):c.8301del:p.Glu2769fs	coding	Pathogenic
13	32363509	AG	A	G32363510C	BRCA2	NM_000059.3(BRCA2):c.8308del:p.Ala2770fs	coding	Pathogenic
13	32363510	GC	G	C32363514A	BRCA2	NM_000059.3(BRCA2):c.8312del:p.Pro2771fs	coding	Pathogenic
13	32363516	GAATCTCTTATGTTA	G	T32363519G	BRCA2	NM_000059.3(BRCA2):c.8317_8330del:p.Ser2773fs	coding	Pathogenic
13	32363517	A	AAT	C32363520A	BRCA2	NM_000059.3(BRCA2):c.8316_8317dup:p.Ser2773fs	coding	Pathogenic
13	32363522	C	CT	A32363525T	BRCA2	NM_000059.3(BRCA2):c.8322dupT:p.Met2775Tyrfs	coding	Pathogenic
13	32363523	T	TTA	G32363527A	BRCA2	NM_000059.4(BRCA2):c.8323_8324dup:p.Met2775fs	coding	Pathogenic
13	32363524	T	TA	T32363526A	BRCA2	NM_000059.3(BRCA2):c.8323dup:p.Met2775fs	coding	Pathogenic
13	32363526	T	TA	G32363527A	BRCA2	NM_000059.3(BRCA2):c.8324_8325insA:p.Met2775fs	coding	Pathogenic
13	32363528	TTAAAG	T	T32363529G	BRCA2	NM_000059.3(BRCA2):c.8327_8331del:p.Leu2776fs	coding	Pathogenic
13	32363529	TA	T	A32363532G	BRCA2	NM_000059.3(BRCA2):c.8330del:p.Lys2777fs	coding	Pathogenic
13	32363531	AAG	A	A32363532G	BRCA2	NM_000059.3(BRCA2):c.8331_8332del:p.Lys2777fs	coding	Pathogenic
13	32364237	G	GT	A32364247T	BRCA2	NM_000059.3(BRCA2):c.8331+713dup	noncoding	Benign
13	32364618	C	CT	G32364620T	BRCA2	NM_000059.3(BRCA2):c.8331+1086dup	noncoding	Benign
13	32369205	TAA	T	A32369207G	BRCA2	NM_000059.3(BRCA2):c.8332-1195_8332-1194del	noncoding	Benign
13	32369218	AT	A	T32369229A	BRCA2	NM_000059.3(BRCA2):c.8332-1173del	noncoding	Benign
13	32370408	GCTAA	G	T32370410A	BRCA2	NM_000059.3(BRCA2):c.8340_8343del:p.Asn2781fs	coding	Pathogenic
13	32370412	AC	A	C32370413A	BRCA2	NM_000059.3(BRCA2):c.8343del:p.Asn2781fs	coding	Pathogenic
13	32370416	TA	T	A32370417C	BRCA2	NM_000059.3(BRCA2):c.8347del:p.Thr2783fs	coding	Pathogenic
13	32370417	A	AC	T32370419C	BRCA2	NM_000059.3(BRCA2):c.8348dup:p.Arg2784fs	coding	Pathogenic
13	32370417	AC	A	C32370418T	BRCA2	NM_000059.3(BRCA2):c.8348del:p.Thr2783fs	coding	Pathogenic
13	32370419	TC	T	C32370420G	BRCA2	NM_000059.3(BRCA2):c.8350del:p.Arg2784fs	coding	Pathogenic
13	32370425	TG	T	G32370426C	BRCA2	NM_000059.3(BRCA2):c.8356del:p.Ala2786fs	coding	Pathogenic
13	32370431	CTG	C	T32370432G	BRCA2	NM_000059.3(BRCA2):c.8362_8363del:p.Trp2788fs	coding	Pathogenic
13	32370443	AC	A	C32370444T	BRCA2	NM_000059.3(BRCA2):c.8374del:p.Gly2793fs	coding	Pathogenic
13	32370444	CTTGGATTCTT	AAG	C32370444A	BRCA2	NM_000059.3(BRCA2):c.8374_8384delinsAAG:p.Leu2792fs	coding	Pathogenic
13	32370444	CTTGGATTCTT	A	C32370444A	BRCA2	NM_000059.3(BRCA2):c.8374_8384delinsA:p.Leu2792fs	coding	Pathogenic
13	32370444	CTTGGATTCTT	AGG	C32370444A	BRCA2	NM_000059.3(BRCA2):c.8374_8384delinsAGG:p.Leu2792fs	coding	Pathogenic
13	32370448	G	AA	G32370448A	BRCA2	NM_000059.3(BRCA2):c.8378delinsAA:p.Gly2793fs	coding	Pathogenic
13	32370452	CT	C	T32370455C	BRCA2	NM_000059.3(BRCA2):c.8385del:p.Pro2796fs	coding	Pathogenic
13	32370453	TTTCCTGACCCTA	T	T32370454G	BRCA2	NM_000059.3(BRCA2):c.8384_8395del:p.Phe2795_Arg2799delinsTer	coding	Pathogenic
13	32370458	TGACCCTA	T	C32370463T	BRCA2	NM_000059.3(BRCA2):c.8393_8399del:p.Pro2798fs	coding	Pathogenic
13	32370460	A	AC	T32370464C	BRCA2	NM_000059.3(BRCA2):c.8393dup:p.Pro2798_Arg2799insTer	coding	Pathogenic
13	32370462	C	CCTAG	A32370467C	BRCA2	NM_000059.3(BRCA2):c.8393_8396dup:p.Arg2799delinsSerTer	coding	Pathogenic
13	32370464	TAG	AA	T32370464A	BRCA2	NM_000059.4(BRCA2):c.8394_8396delinsAA:p.Arg2799fs	coding	Pathogenic
13	32370464	TA	T	A32370465G	BRCA2	NM_000059.3(BRCA2):c.8395del:p.Arg2799fs	coding	Pathogenic
13	32370465	A	AG	A32370467G	BRCA2	NM_000059.3(BRCA2):c.8396dup:p.Pro2800fs	coding	Pathogenic
13	32370469	CT	C	T32370473C	BRCA2	NM_000059.3(BRCA2):c.8403del:p.Pro2802fs	coding	Pathogenic
13	32370470	TTT	AAAA	T32370470A	BRCA2	NM_000059.3(BRCA2):c.8400_8402delinsAAAA:p.Phe2801fs	coding	Pathogenic
13	32370471	TTT	AAAA	T32370471A	BRCA2	NM_000059.3(BRCA2):c.8401_8403delinsAAAA:p.Phe2801fs	coding	Pathogenic
13	32370483	TTA	T	A32370485C	BRCA2	NM_000059.3(BRCA2):c.8415_8416del:p.Leu2805fs	coding	Pathogenic
13	32370484	TAT	C	T32370484C	BRCA2	NM_000059.3(BRCA2):c.8414_8416delinsC:p.Leu2805fs	coding	Pathogenic
13	32370484	T	TA	T32370486A	BRCA2	NM_000059.3(BRCA2):c.8415dup:p.Ser2806fs	coding	Pathogenic
13	32370485	AT	A	T32370486C	BRCA2	NM_000059.3(BRCA2):c.8416del:p.Ser2806fs	coding	Pathogenic
13	32370485	ATCATCGCTTT	A	T32370489G	BRCA2	NM_000059.3(BRCA2):c.8419_8428del:p.Ser2807fs	coding	Pathogenic
13	32370492	C	CT	C32370497T	BRCA2	NM_000059.3(BRCA2):c.8426dup:p.Ser2810fs	coding	Pathogenic
13	32370492	CT	C	T32370496C	BRCA2	NM_000059.3(BRCA2):c.8426del:p.Phe2809fs	coding	Pathogenic
13	32370500	TGATGGAG	T	T32370503A	BRCA2	NM_000059.4(BRCA2):c.8433_8439del:p.Asp2811fs	coding	Pathogenic
13	32370503	T	TC	G32370504C	BRCA2	NM_000059.3(BRCA2):c.8433_8434insC:p.Gly2812fs	coding	Pathogenic
13	32370504	G	GC	G32370505C	BRCA2	NM_000059.3(BRCA2):c.8434_8435insC:p.Gly2812fs	coding	Pathogenic
13	32370505	G	GA	G32370507A	BRCA2	NM_000059.3(BRCA2):c.8436dupA:p.Gly2813Argfs	coding	Pathogenic
13	32370506	AG	A	G32370508A	BRCA2	NM_000059.3(BRCA2):c.8438del:p.Gly2813fs	coding	Pathogenic
13	32370531	A	AT	A32370534T	BRCA2	NM_000059.3(BRCA2):c.8463dup:p.Ile2822fs	coding	Pathogenic
13	32370531	AT	A	T32370533A	BRCA2	NM_000059.3(BRCA2):c.8463del:p.Ile2822fs	coding	Pathogenic
13	32370534	A	AT	C32370537T	BRCA2	NM_000059.3(BRCA2):c.8466dup:p.Gln2823fs	coding	Pathogenic
13	32370539	AAG	A	A32370542C	BRCA2	NM_000059.4(BRCA2):c.8470_8471AG[1]:p.Arg2824fs	coding	Pathogenic
13	32370541	GAGCATACCCTATAC	G	C32370544G	BRCA2	NM_000059.4(BRCA2):c.8474_8487del:p.Ala2825fs	coding	Pathogenic
13	32370543	GC	G	C32370544A	BRCA2	NM_000059.3(BRCA2):c.8474del:p.Ala2825fs	coding	Pathogenic
13	32370548	CCCTATACAGGTATGATG	C	C32370549T	BRCA2	NM_000059.3(BRCA2):c.8479_8487+8del	coding	Pathogenic
13	32370954	AGT	A	T32370956G	BRCA2	NM_000059.3(BRCA2):c.8488_8489delTG	noncoding	Pathogenic
13	32370968	AC	A	C32370969A	BRCA2	NM_000059.3(BRCA2):c.8501del:p.Thr2834fs	coding	Pathogenic
13	32370972	CA	C	A32370973T	BRCA2	NM_000059.3(BRCA2):c.8505del:p.Ser2836fs	coding	Pathogenic
13	32370980	TTA	T	T32370983C	BRCA2	NM_000059.3(BRCA2):c.8513_8514TA[1]:p.Tyr2839fs	coding	Pathogenic
13	32370985	CA	C	A32370986T	BRCA2	NM_000059.3(BRCA2):c.8518del:p.Ile2840fs	coding	Pathogenic
13	32370994	CA	C	A32370996T	BRCA2	NM_000059.3(BRCA2):c.8528del:p.Asn2843fs	coding	Pathogenic
13	32370998	GAA	G	A32371000G	BRCA2	NM_000059.3(BRCA2):c.8532_8533del:p.Glu2846fs	coding	Pathogenic
13	32370998	G	GA	G32371002A	BRCA2	NM_000059.3(BRCA2):c.8533dup:p.Arg2845fs	coding	Pathogenic
13	32371000	AAG	A	A32371005G	BRCA2	NM_000059.3(BRCA2):c.8533_8534AG[2]:p.Glu2846fs	coding	Pathogenic
13	32371000	AAGAG	A	A32371003G	BRCA2	NM_000059.3(BRCA2):c.8533_8534AG[1]:p.Glu2846fs	coding	Pathogenic
13	32371010	GA	G	A32371014G	BRCA2	NM_000059.3(BRCA2):c.8546del:p.Lys2849fs	coding	Pathogenic
13	32371012	AAAGG	A	G32371016C	BRCA2	NM_000059.3(BRCA2):c.8548_8551del:p.Glu2850fs	coding	Pathogenic
13	32371014	AG	A	G32371016A	BRCA2	NM_000059.3(BRCA2):c.8548del:p.Glu2850fs	coding	Pathogenic
13	32371023	CA	C	A32371027T	BRCA2	NM_000059.4(BRCA2):c.8559del:p.Lys2853fs	coding	Pathogenic
13	32371027	AT	A	T32371028A	BRCA2	NM_000059.3(BRCA2):c.8560del:p.Tyr2854fs	coding	Pathogenic
13	32371028	T	TA	T32371030A	BRCA2	NM_000059.3(BRCA2):c.8561dup:p.Tyr2854Ter	coding	Pathogenic
13	32371028	T	TATGTGGAG	G32371037A	BRCA2	NM_000059.4(BRCA2):c.8561_8568dup:p.Ala2857fs	coding	Pathogenic
13	32371029	AT	A	T32371030G	BRCA2	NM_000059.3(BRCA2):c.8562del:p.Lys2853_Tyr2854insTer	coding	Pathogenic
13	32371032	TG	T	G32371034A	BRCA2	NM_000059.3(BRCA2):c.8566del:p.Glu2856fs	coding	Pathogenic
13	32371034	GA	C	G32371034C	BRCA2	NM_000059.4(BRCA2):c.8566_8567delinsC:p.Glu2856fs	coding	Pathogenic
13	32371037	GC	G	C32371040A	BRCA2	NM_000059.3(BRCA2):c.8572del:p.Gln2858fs	coding	Pathogenic
13	32371042	AC	A	C32371043A	BRCA2	NM_000059.3(BRCA2):c.8575del:p.Gln2859fs	coding	Pathogenic
13	32371043	CAA	C	A32371046G	BRCA2	NM_000059.3(BRCA2):c.8578_8579del:p.Lys2860fs	coding	Pathogenic
13	32371043	CA	C	A32371047G	BRCA2	NM_000059.3(BRCA2):c.8579del:p.Lys2860fs	coding	Pathogenic
13	32371046	AAG	A	G32371050C	BRCA2	NM_000059.3(BRCA2):c.8580_8581GA[1]:p.Arg2861fs	coding	Pathogenic
13	32371052	C	CT	A32371054T	BRCA2	NM_000059.3(BRCA2):c.8585dupT:p.Glu2863Argfs	coding	Pathogenic
13	32371052	CTA	C	T32371053G	BRCA2	NM_000059.3(BRCA2):c.8585_8586del:p.Leu2862fs	coding	Pathogenic
13	32371055	G	GA	G32371058A	BRCA2	NM_000059.3(BRCA2):c.8589dup:p.Ala2864fs	coding	Pathogenic
13	32371058	GC	G	C32371060T	BRCA2	NM_000059.3(BRCA2):c.8592del:p.Leu2865fs	coding	Pathogenic
13	32371060	C	CT	A32371063T	BRCA2	NM_000059.3(BRCA2):c.8594dupT:p.Leu2865Phefs	coding	Pathogenic
13	32371068	C	CT	A32371070T	BRCA2	NM_000059.3(BRCA2):c.8601dup:p.Lys2868Ter	coding	Pathogenic
13	32371073	AT	A	T32371075C	BRCA2	NM_000059.3(BRCA2):c.8607del:p.Gln2870fs	coding	Pathogenic
13	32371096	TG	T	G32371097A	BRCA2	NM_000059.4(BRCA2):c.8629del:p.Glu2877fs	coding	Pathogenic
13	32371231	T	TC	T32371233C	BRCA2	NM_000059.3(BRCA2):c.8632+132dup	noncoding	Benign
13	32376642	TGAATTAATAATCCTTTTGTTTTCTTA	T	T32376646A	BRCA2	NM_000059.3(BRCA2):c.8633-24_8634del	noncoding	Pathogenic
13	32376667	TAGAAAACACAACAAAACCATATTTACCATCACGTGCACTAACAAGACAGCAAGTTCGTGCTTTGCAAGATGGTGCAGAGCTTTATGAAGCAGTGAAGAATGCAGCAGACCCAGCTTACCTTG	T	A32376670G	BRCA2	NM_000059.3(BRCA2):c.8633_8754del122	noncoding	Pathogenic
13	32376669	G	GA	C32376674A	BRCA2	NM_000059.3(BRCA2):c.8636dup:p.Asn2879fs	coding	Pathogenic
13	32376672	AAC	A	C32376676A	BRCA2	NM_000059.3(BRCA2):c.8637_8638CA[1]:p.Thr2880fs	coding	Pathogenic
13	32376678	A	ATT	C32376679T	BRCA2	NM_000059.3(BRCA2):c.8641_8642insTT:p.Thr2881fs	coding	Pathogenic
13	32376679	CAA	C	A32376682C	BRCA2	NM_000059.3(BRCA2):c.8645_8646del:p.Lys2882fs	coding	Pathogenic
13	32376679	CA	C	A32376683C	BRCA2	NM_000059.3(BRCA2):c.8646del:p.Lys2882fs	coding	Pathogenic
13	32376681	AAACC	A	A32376683T	BRCA2	NM_000059.3(BRCA2):c.8646_8649del:p.Lys2882fs	coding	Pathogenic
13	32376683	AC	A	C32376685A	BRCA2	NM_000059.3(BRCA2):c.8648del:p.Pro2883fs	coding	Pathogenic
13	32376686	AT	A	T32376687A	BRCA2	NM_000059.4(BRCA2):c.8650del:p.Tyr2884fs	coding	Pathogenic
13	32376691	T	TA	C32376693A	BRCA2	NM_000059.3(BRCA2):c.8655dup:p.Pro2886fs	coding	Pathogenic
13	32376699	CG	C	G32376700T	BRCA2	NM_000059.3(BRCA2):c.8663del:p.Arg2888fs	coding	Pathogenic
13	32376705	C	CT	A32376707T	BRCA2	NM_000059.3(BRCA2):c.8669dup:p.Thr2891fs	coding	Pathogenic
13	32376709	CAA	C	A32376710G	BRCA2	NM_000059.3(BRCA2):c.8673_8674del:p.Arg2892fs	coding	Pathogenic
13	32376712	GA	G	A32376713C	BRCA2	NM_000059.3(BRCA2):c.8676del:p.Arg2892fs	coding	Pathogenic
13	32376716	GC	G	C32376717A	BRCA2	NM_000059.3(BRCA2):c.8680del:p.Gln2894fs	coding	Pathogenic
13	32376737	TG	T	G32376739T	BRCA2	NM_000059.3(BRCA2):c.8702del:p.Gly2901fs	coding	Pathogenic
13	32376742	C	CAG	C32376747A	BRCA2	NM_000059.3(BRCA2):c.8706_8707AG[3]:p.Leu2904fs	coding	Pathogenic
13	32376747	C	CAG	T32376748A	BRCA2	NM_000059.3(BRCA2):c.8710_8711insAG:p.Leu2904fs	coding	Pathogenic
13	32376749	TTATG	T	T32376750A	BRCA2	NM_000059.3(BRCA2):c.8713_8716del:p.Tyr2905fs	coding	Pathogenic
13	32376753	GAA	G	A32376754G	BRCA2	NM_000059.3(BRCA2):c.8717_8718del:p.Glu2906fs	coding	Pathogenic
13	32376760	TG	T	G32376761A	BRCA2	NM_000059.3(BRCA2):c.8724del:p.Lys2909fs	coding	Pathogenic/Likely_pathogenic
13	32376762	AAGAATGCAGC	A	A32376766C	BRCA2	NM_000059.3(BRCA2):c.8729_8738del:p.Asn2910fs	coding	Pathogenic
13	32376766	AT	A	T32376767G	BRCA2	NM_000059.3(BRCA2):c.8730del:p.Asn2910fs	coding	Pathogenic
13	32376780	G	GCTTA	C32376786T	BRCA2	NM_000059.3(BRCA2):c.8745_8748dup:p.Glu2918fs	coding	Pathogenic
13	32376781	C	CCTTA	T32376782C	BRCA2	NM_000059.3(BRCA2):c.8744_8745insCTTA:p.Tyr2916fs	coding	Pathogenic
13	32376784	A	AC	T32376787C	BRCA2	NM_000059.4(BRCA2):c.8749dup:p.Leu2917fs	coding	Pathogenic
13	32377590	CA	C	A32377607G	BRCA2	NM_000059.3(BRCA2):c.8754+816del	noncoding	Benign
13	32378939	ACCTACAACACAGAAACAATGATATTACCTACCCCATGGACTGTTGTGAAGATTAAATGAATTAGTACATTTACTACACATAGATCTATTTCTCAAAATAATGAGCATTCAGATATTAGCCATCTGTAATGTAGTTGGTGATGATTATGATTATTAGAGTACATTTATAATTGGAGGATCATTTTTGCCGTAGGGAAATAGAATTATTAATAGTTTGAGGCACCTGAGAATATTATGTGAGAAACTGATTACATTAACCACACCCTTAAGATGAGCTCTAATTTTGTTGTATTTGTCCTGTTTAAAGCCATCTAGTTACAATAGATGGAACTTTTTTGTTCTGATTGCTTTTTATTCCAATATCTTAAATGGTCACAGGGTTATTTCAGTGAAGAGCAGTTAAGAGCCTTGAATAATCACAGGCAAATGTTGAATGATAAGAAACAAGCTCAGATCCAGTTGGAAATTAGGAAGGCCATGGAATCTGCTGAACAAAAGGAACAAGGTTTATCAAGGGATGTCACAACCGTGTGGAAGTTGCGTATTGTAAGCTATTCAAAAAAAGAAAAAGATTCAGGTAAGTATGTAAATGCTTTGTTTTTATCAGTTTTATTAACTTAAAAAATGACCTTACTAACAAAATGATTATAAATCCAGATAAAGTATAAAGTTAGTTTATATCAGAGAAGCAAAATCCACTACTAATGCCCACAAAGAGATAATATAAAAGAGGATCTGTATTTATTTTGAAACAAACATTTAAATGATAATCACTTCTTCCATTGCATCTTTCTCATCTTTCTCCAAACAGTTATACTGAGTATTTGGCGTCCATCATCAGATTTATATTCTCTGTTAACAGAAGGAAAGAGATACAGAATTTATCATCTTGCAACTTCAAAATCTAAAAGTAAATCTGAAAGAGCTAACATACAGTTAGCAGCGACAAAAAAAACTCAGTATCAACAACTACCGGTACAAACCTTTCATTGTAATTTTTCAGTTTTGATAAGTGCTTGTTAGTTTATGGAATCTCCATATGTTGAATTTTTGTTTTGTTTTCTGTAGGTTTCAGATGAAATTTTATTTCAGATTTACCAGCCACGGGAGCCCCTTCACTTCAGCAAATTTTTAGATCCAGACTTTCAGCCATCTTGTTCTGAGGTGGACCTAATAGGATTTGTCGTTTCTGTTGTGAAAAAAACAGGTAATGCACAATATAGTTAATTTTTTTTATTGATTCTTTTAAAAAACATTGTCTTTTAAAATCTCTTATGATTAGTTGGAGCTACCAGTTGGCAAATTTGCTAGCTAACTAGTGATCTGAAAGTAAGCCTCTTTGAACCTCTGATTTTTCATGAAAAGCAATTCTCTCAATTCTATATTATTTCAAGGGTAACAAGTTACATCCTAGTCTGTGTACTTAATTTTATAGAAATTGTCCTTAATTTTATTTTCTGCAATTTATGTTTTCTTACTATTTCTGGTGTATGTGTTTATCCCATTGTGATGTTATATTGGTGTCCTCAATTTATTTCCTTAGCCATACACTCTACTTTTCATTGTACAGGGCTATTTATTATCTCAGAGTCAAGCTTTTTTTTTTTTTTTTTTTTCCCCGAGATGGAGTCTCACTCTGTTGCCCAGGCTGGAGTGCAGTGGCGCTATCTCAGCCCACTGCAAGTTCTGCCTCCCAGGTTCACACCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACATATACCCGCCACCGAGCCTGGCCAATTTTTTGTATTTTTAGTAGAGTCGGGGTTTCACCGTGTTAACCAGGATAGTCTAAATCTCCTGACCTCGTGATCTACCAGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAG	A	T32378942A	BRCA2	NM_000059.3(BRCA2):c.8755-375_9256+681del	noncoding	Pathogenic
13	32379315	A	AGGGTTATTTCAGTGAAGAGCAGT	T32379339G	BRCA2	NM_000059.4(BRCA2):c.8755-1_8776dup	noncoding	Pathogenic
13	32379315	AG	A	G32379318T	BRCA2	NM_000059.3(BRCA2):c.8756delG	noncoding	Pathogenic
13	32379316	G	GGGTTATTTCAGTGAAGAGC	A32379336G	BRCA2	NM_000059.4(BRCA2):c.8755_8773dup:p.Gln2925delinsArgLeuPheGlnTer	coding	Pathogenic
13	32379321	ATT	A	T32379323C	BRCA2	NM_000059.3(BRCA2):c.8761_8762del:p.Phe2921fs	coding	Pathogenic
13	32379322	TTTCAGTG	T	T32379323A	BRCA2	NM_000059.4(BRCA2):c.8761_8767del:p.Phe2921fs	coding	Pathogenic
13	32379324	TCAGTGAAGAG	T	G32379329T	BRCA2	NM_000059.3(BRCA2):c.8767_8776del:p.Ser2922_Glu2923insTer	coding	Pathogenic
13	32379349	GA	G	A32379351T	BRCA2	NM_000059.3(BRCA2):c.8789del:p.Asn2930fs	coding	Pathogenic
13	32379358	CAGGCA	C	G32379360A	BRCA2	NM_000059.3(BRCA2):c.8798_8802del:p.Arg2933fs	coding	Pathogenic
13	32379361	GC	G	C32379362A	BRCA2	NM_000059.3(BRCA2):c.8800del:p.Gln2934fs	coding	Pathogenic
13	32379365	A	ATG	T32379369G	BRCA2	NM_000059.3(BRCA2):c.8805_8806dup:p.Leu2936fs	coding	Pathogenic
13	32379376	TAAGAAAC	T	A32379380C	BRCA2	NM_000059.3(BRCA2):c.8818_8824del:p.Lys2940fs	coding	Pathogenic
13	32379376	TAAGA	T	G32379379C	BRCA2	NM_000059.3(BRCA2):c.8817_8820del:p.Lys2939fs	coding	Pathogenic
13	32379379	GAAAC	G	A32379382G	BRCA2	NM_000059.3(BRCA2):c.8820_8823del:p.Gln2941fs	coding	Pathogenic
13	32379388	T	TG	C32379389G	BRCA2	NM_000059.3(BRCA2):c.8826_8827insG:p.Gln2943fs	coding	Pathogenic
13	32379389	C	CG	A32379390G	BRCA2	NM_000059.3(BRCA2):c.8827_8828insG:p.Gln2943fs	coding	Pathogenic
13	32379391	GA	G	A32379392T	BRCA2	NM_000059.3(BRCA2):c.8830del:p.Ile2944fs	coding	Pathogenic
13	32379401	GA	G	A32379404T	BRCA2	NM_000059.3(BRCA2):c.8842del:p.Ile2948fs	coding	Pathogenic
13	32379406	TAGGA	T	A32379410C	BRCA2	NM_000059.3(BRCA2):c.8848_8851del:p.Lys2950fs	coding	Pathogenic
13	32379410	A	CT	A32379410C	BRCA2	NM_000059.4(BRCA2):c.8848delinsCT:p.Lys2950fs	coding	Pathogenic
13	32379411	A	AGG	C32379414G	BRCA2	NM_000059.3(BRCA2):c.8850_8851dup:p.Ala2951fs	coding	Pathogenic
13	32379431	CA	C	A32379435G	BRCA2	NM_000059.4(BRCA2):c.8873del:p.Lys2958fs	coding	Pathogenic
13	32379431	C	CA	G32379436A	BRCA2	NM_000059.4(BRCA2):c.8873dup:p.Glu2959fs	coding	Pathogenic
13	32379445	TTTATCAAGGGATGTCACAACCGTGTGGAAGTTGCGTATTGTAAGCTATTCAAAAAAAGAAAAAGA	T	A32379448C	BRCA2	NM_000059.3(BRCA2):c.8886_8950del:p.Leu2962fs	coding	Pathogenic
13	32379448	AT	A	T32379449C	BRCA2	NM_000059.3(BRCA2):c.8887del:p.Ser2963fs	coding	Pathogenic
13	32379450	C	CA	G32379453A	BRCA2	NM_000059.3(BRCA2):c.8890dup:p.Arg2964fs	coding	Pathogenic
13	32379459	TCA	T	C32379462A	BRCA2	NM_000059.3(BRCA2):c.8898_8899CA[1]:p.Thr2967fs	coding	Pathogenic
13	32379461	AC	A	C32379462A	BRCA2	NM_000059.3(BRCA2):c.8900del:p.Thr2967fs	coding	Pathogenic
13	32379464	AC	A	C32379466G	BRCA2	NM_000059.3(BRCA2):c.8904del:p.Val2969fs	coding	Pathogenic
13	32379464	ACCGTGTGGAAG	TCCC	A32379464T	BRCA2	NM_000059.3(BRCA2):c.8902_8913delinsTCCC:p.Thr2968fs	coding	Pathogenic
13	32379472	GA	G	A32379474G	BRCA2	NM_000059.3(BRCA2):c.8912del:p.Lys2971fs	coding	Pathogenic
13	32379472	G	GA	G32379475A	BRCA2	NM_000059.3(BRCA2):c.8912dup:p.Leu2972fs	coding	Pathogenic
13	32379475	G	GTTGC	G32379480T	BRCA2	NM_000059.3(BRCA2):c.8914_8917dup:p.Arg2973fs	coding	Pathogenic
13	32379475	GT	G	T32379477G	BRCA2	NM_000059.3(BRCA2):c.8915del:p.Leu2972fs	coding	Pathogenic
13	32379480	G	GT	A32379482T	BRCA2	NM_000059.3(BRCA2):c.8919dup:p.Ile2974fs	coding	Pathogenic
13	32379485	GT	G	T32379486A	BRCA2	NM_000059.3(BRCA2):c.8924del:p.Val2975fs	coding	Pathogenic
13	32379491	TA	T	A32379492T	BRCA2	NM_000059.3(BRCA2):c.8930del:p.Tyr2977fs	coding	Pathogenic
13	32379495	CA	C	A32379502G	BRCA2	NM_000059.3(BRCA2):c.8940del:p.Glu2981fs	coding	Pathogenic
13	32379495	C	CA	G32379503A	BRCA2	NM_000059.3(BRCA2):c.8940dup:p.Glu2981fs	coding	Pathogenic
13	32379499	AAAAG	A	G32379503A	BRCA2	NM_000059.3(BRCA2):c.8941_8944del:p.Glu2981fs	coding	Pathogenic
13	32379501	AAG	A	G32379503A	BRCA2	NM_000059.3(BRCA2):c.8941_8942del:p.Glu2981fs	coding	Pathogenic
13	32379502	AG	A	G32379503A	BRCA2	NM_000059.3(BRCA2):c.8941del:p.Glu2981fs	coding	Pathogenic
13	32379503	GAA	G	A32379507G	BRCA2	NM_000059.3(BRCA2):c.8945_8946del:p.Lys2982fs	coding	Pathogenic
13	32379503	GA	G	A32379508G	BRCA2	NM_000059.3(BRCA2):c.8946del:p.Asp2983fs	coding	Pathogenic
13	32379503	G	GA	G32379509A	BRCA2	NM_000059.3(BRCA2):c.8946dup:p.Asp2983fs	coding	Pathogenic
13	32379506	AAAGATTCAGGT	A	A32379510T	BRCA2	NM_000059.3(BRCA2):c.8948_8953+5del	coding	Pathogenic/Likely_pathogenic
13	32379508	A	AG	A32379510G	BRCA2	NM_000059.3(BRCA2):c.8947dup:p.Asp2983fs	coding	Pathogenic
13	32379510	AT	A	T32379512C	BRCA2	NM_000059.3(BRCA2):c.8950del:p.Ser2984fs	coding	Pathogenic
13	32379514	AG	A	G32379516T	BRCA2	NM_000059.3(BRCA2):c.8953+1del	coding	Pathogenic
13	32379740	CTCCAAACAGTTATACTGAGTATTTGGCGTCCATCATCAGATTTATATTCTCTGTTAACAGAAGGAAAGAGATACAGAATTTATCATCTTGCAACTTCAAAATCTAAAAGTAAATCTGAAAGAGCTAACATACAGTTAGCAGCGACAAAAAAAACTCAGTATCAACAACTACCGGTACAAACCTTTCATTGTAATTTTTCAGTTTTGATAAGTGCTTGTTAGTTTATGGAATCTCCATATGTTGAATTTTTGTTTTGTTTTCTGTAGGTTTCAGATGAAATTTTA	C	C32379742T	BRCA2	NM_000059.4(BRCA2):c.8954-8_9136del	noncoding	Pathogenic
13	32379745	AACAGTTAT	A	A32379748T	BRCA2	NM_000059.3(BRCA2):c.8954-2_8959del	noncoding	Pathogenic
13	32379749	G	AA	G32379749A	BRCA2	NM_000059.3(BRCA2):c.8954-1delinsAA	coding	Pathogenic
13	32379749	GTT	AA	G32379749A	BRCA2	NM_000059.3(BRCA2):c.8954-1_8955delinsAA	coding	Pathogenic
13	32379750	TTA	T	T32379753C	BRCA2	NC_000013.11:g.32379751_32379752TA[1]	coding	Pathogenic
13	32379751	T	TA	T32379753A	BRCA2	NM_000059.3(BRCA2):c.8956dup:p.Ile2986fs	coding	Pathogenic
13	32379753	TACTG	T	C32379755G	BRCA2	NM_000059.3(BRCA2):c.8959_8962del:p.Leu2987fs	coding	Pathogenic
13	32379753	T	TA	C32379755A	BRCA2	NM_000059.3(BRCA2):c.8958dup:p.Leu2987fs	coding	Pathogenic
13	32379755	CTGAG	C	G32379757A	BRCA2	NM_000059.3(BRCA2):c.8961_8964del:p.Ser2988fs	coding	Pathogenic
13	32379760	TA	T	A32379761T	BRCA2	NM_000059.3(BRCA2):c.8965del:p.Ile2989fs	coding	Pathogenic
13	32379761	ATTTGGCG	A	T32379763C	BRCA2	NM_000059.3(BRCA2):c.8967_8973del:p.Trp2990fs	coding	Pathogenic
13	32379767	CGTCCATCATCAGATTTATATTCTCTGTTAACAGAAGGAAAGAGATACAGAATTTATCATCTTGCAACTTCAAAATCTAAAAGTAAATCTGAAAGAGCTAACATACAGTTAGCAGCGACAAAAAAAA	C	G32379768C	BRCA2	NM_000059.3(BRCA2):c.8972_9097del:p.Arg2991_Thr3033delinsPro	coding	Pathogenic
13	32379768	GTCCATCATCAGATTTATATTCTCTGTTAACAGAAGGAAAGAGATACAGAATTTATCATCTTGCAACTTCAAAATCTAAAAGTAAATCTGAAAGAGCTAACATACAGTTAGCAGCGACAAAAAAAAC	G	C32379771A	BRCA2	NM_000059.3(BRCA2):c.8975_9100del:p.Pro2992_Thr3033del	coding	Pathogenic/Likely_pathogenic
13	32379771	CATCATCAGATTTAT	C	C32379774T	BRCA2	NM_000059.3(BRCA2):c.8978_8991del:p.Ser2993fs	coding	Pathogenic
13	32379775	ATCAG	A	T32379776A	BRCA2	NM_000059.3(BRCA2):c.8980_8983del:p.Ser2994fs	coding	Pathogenic
13	32379777	C	CA	G32379779A	BRCA2	NM_000059.4(BRCA2):c.8982dup:p.Asp2995fs	coding	Pathogenic
13	32379777	C	CAGAT	T32379782A	BRCA2	NM_000059.3(BRCA2):c.8982_8985dup:p.Leu2996fs	coding	Pathogenic
13	32379781	T	TTAGA	T32379783A	BRCA2	NM_000059.3(BRCA2):c.8986_8987insAGAT:p.Leu2996Ter	coding	Pathogenic
13	32379784	ATA	TT	A32379784T	BRCA2	NM_000059.3(BRCA2):c.8988_8990delinsTT:p.Leu2996fs	coding	Pathogenic
13	32379785	TATTCTCTGTTAACAGAAGGAAAGAGATACAGA	T	C32379789T	BRCA2	NM_000059.3(BRCA2):c.8993_9024del:p.Ser2998fs	coding	Pathogenic
13	32379786	ATTCTCTGTTAACAGAAGGAAAGAGATACAGAATT	A	T32379788A	BRCA2	NM_000059.3(BRCA2):c.8992_9025del:p.Ser2998fs	coding	Pathogenic
13	32379791	C	CT	G32379793T	BRCA2	NM_000059.3(BRCA2):c.8996dup:p.Leu3000fs	coding	Pathogenic
13	32379804	GA	G	A32379807G	BRCA2	NM_000059.3(BRCA2):c.9011del:p.Lys3004fs	coding	Pathogenic
13	32379806	AAG	A	G32379810T	BRCA2	NM_000059.3(BRCA2):c.9012_9013GA[1]:p.Arg3005fs	coding	Pathogenic
13	32379808	G	GAGAT	C32379814G	BRCA2	NM_000059.3(BRCA2):c.9014_9017dup:p.Tyr3006Ter	coding	Pathogenic
13	32379810	GAT	G	T32379812C	BRCA2	NM_000059.3(BRCA2):c.9016_9017del:p.Tyr3006fs	coding	Pathogenic
13	32379811	A	ATATC	C32379814T	BRCA2	NM_000059.3(BRCA2):c.9017_9018insTCTA:p.Arg3007fs	coding	Pathogenic
13	32379812	TACAGA	T	C32379814T	BRCA2	NM_000059.3(BRCA2):c.9018_9022del:p.Arg3007fs	coding	Pathogenic
13	32379812	T	TA	C32379814A	BRCA2	NM_000059.3(BRCA2):c.9017dup:p.Tyr3006Ter	coding	Pathogenic
13	32379814	C	CATCT	G32379816T	BRCA2	NM_000059.3(BRCA2):c.9019_9020insTCTA:p.Arg3007delinsIleTer	coding	Pathogenic
13	32379814	C	CTCTA	A32379815T	BRCA2	NM_000059.3(BRCA2):c.9018_9019insTCTA:p.Arg3007fs	coding	Pathogenic
13	32379816	GAATTTATCATCTTGCAACTTCAA	G	T32379820C	BRCA2	NM_000059.3(BRCA2):c.9024_9046del:p.Ile3008_Tyr3009insTer	coding	Pathogenic
13	32379818	A	AT	A32379822T	BRCA2	NM_000059.3(BRCA2):c.9025dup:p.Tyr3009fs	coding	Pathogenic
13	32379818	AT	A	T32379821A	BRCA2	NM_000059.3(BRCA2):c.9025del:p.Tyr3009fs	coding	Pathogenic
13	32379820	TTATCA	T	A32379822C	BRCA2	NM_000059.3(BRCA2):c.9026_9030del:p.Tyr3009fs	coding	Pathogenic
13	32379822	AT	A	T32379823C	BRCA2	NM_000059.3(BRCA2):c.9027del:p.His3010fs	coding	Pathogenic
13	32379829	T	TG	C32379831G	BRCA2	NM_000059.3(BRCA2):c.9034dup:p.Ala3012fs	coding	Pathogenic
13	32379844	TA	T	A32379848G	BRCA2	NM_000059.3(BRCA2):c.9052del:p.Ser3018fs	coding	Pathogenic
13	32379845	AAAAGT	A	G32379849T	BRCA2	NM_000059.3(BRCA2):c.9053_9057del:p.Ser3018fs	coding	Pathogenic
13	32379849	GTA	G	T32379850A	BRCA2	NM_000059.3(BRCA2):c.9054_9055del:p.Ser3018fs	coding	Pathogenic
13	32379850	TA	T	A32379853T	BRCA2	NM_000059.3(BRCA2):c.9057del:p.Lys3019fs	coding	Pathogenic
13	32379855	C	CT	G32379857T	BRCA2	NM_000059.3(BRCA2):c.9060dup:p.Glu3021Ter	coding	Pathogenic
13	32379855	C	CTT	G32379857T	BRCA2	NM_000059.3(BRCA2):c.9060_9061insTT:p.Glu3021fs	coding	Pathogenic
13	32379855	CT	C	T32379856G	BRCA2	NM_000059.3(BRCA2):c.9060del:p.Glu3021fs	coding	Pathogenic
13	32379857	G	GAA	G32379861A	BRCA2	NM_000059.3(BRCA2):c.9063_9064dup:p.Arg3022fs	coding	Pathogenic
13	32379858	AAAGAGCTAACATACAG	A	A32379859T	BRCA2	NM_000059.3(BRCA2):c.9063_9078del:p.Glu3021fs	coding	Pathogenic
13	32379861	G	GAA	G32379863A	BRCA2	NM_000059.3(BRCA2):c.9066_9067insAA:p.Ala3023fs	coding	Pathogenic
13	32379863	GCTAACATA	G	T32379865A	BRCA2	NM_000059.3(BRCA2):c.9069_9076del:p.Asn3024fs	coding	Pathogenic
13	32379868	CAT	C	T32379870C	BRCA2	NM_000059.3(BRCA2):c.9074_9075del:p.Ile3025fs	coding	Pathogenic
13	32379870	T	TA	C32379872A	BRCA2	NM_000059.4(BRCA2):c.9075dup:p.Gln3026fs	coding	Pathogenic
13	32379884	AC	A	C32379885A	BRCA2	NM_000059.3(BRCA2):c.9089del:p.Thr3030fs	coding	Pathogenic
13	32379885	CAAAA	C	A32379890C	BRCA2	NM_000059.3(BRCA2):c.9094_9097del:p.Lys3032fs	coding	Pathogenic
13	32379885	CAA	C	A32379892C	BRCA2	NM_000059.4(BRCA2):c.9096_9097del:p.Lys3032fs	coding	Pathogenic/Likely_pathogenic
13	32379885	CA	C	A32379893C	BRCA2	NM_000059.4(BRCA2):c.9097del:p.Thr3033fs	coding	Pathogenic
13	32379885	C	CA	C32379894A	BRCA2	NM_000059.3(BRCA2):c.9097dupA:p.Thr3033Asnfs	coding	Pathogenic
13	32379889	AA	G	A32379889G	BRCA2	NM_000059.3(BRCA2):c.9093_9094delinsG:p.Thr3033fs	coding	Pathogenic
13	32379892	A	AT	A32379893T	BRCA2	NM_000059.3(BRCA2):c.9096_9097insT:p.Thr3033fs	coding	Pathogenic
13	32379893	A	AC	T32379895C	BRCA2	NM_000059.3(BRCA2):c.9098dup:p.Gln3034fs	coding	Pathogenic
13	32379893	A	AT	C32379894T	BRCA2	NM_000059.3(BRCA2):c.9097_9098insT:p.Thr3033fs	coding	Pathogenic
13	32379893	ACT	A	T32379895A	BRCA2	NM_000059.3(BRCA2):c.9099_9100del:p.Gln3034fs	coding	Pathogenic
13	32379894	C	CA	T32379895A	BRCA2	NM_000059.4(BRCA2):c.9098_9099insA:p.Gln3034fs	coding	Pathogenic
13	32379895	T	TC	A32379897C	BRCA2	NM_000059.3(BRCA2):c.9100dup:p.Gln3034fs	coding	Pathogenic
13	32379898	G	GT	A32379900T	BRCA2	NM_000059.3(BRCA2):c.9103dup:p.Tyr3035fs	coding	Pathogenic
13	32379902	C	TACT	C32379902T	BRCA2	NM_000059.3(BRCA2):c.9106delinsTACT:p.Gln3036delinsTyrTer	coding	Pathogenic
13	32379908	C	CT	A32379910T	BRCA2	NM_000059.4(BRCA2):c.9113dup:p.Pro3039fs	coding	Pathogenic
13	32379914	GT	TC	G32379914T	BRCA2	NM_000059.3(BRCA2):c.9117+1_9117+2delinsTC	noncoding	Pathogenic
13	32379995	TGTTTTCTGTAG	T	T32380000C	BRCA2	NM_000059.3(BRCA2):c.9118-7_9121del	noncoding	Pathogenic
13	32380019	AT	A	T32380023A	BRCA2	NM_000059.3(BRCA2):c.9134del:p.Leu3045fs	coding	Pathogenic
13	32380039	GC	G	C32380041A	BRCA2	NM_000059.3(BRCA2):c.9152del:p.Pro3051fs	coding	Pathogenic
13	32380043	CG	C	G32380046A	BRCA2	NM_000059.3(BRCA2):c.9157del:p.Glu3053fs	coding	Pathogenic
13	32380063	CA	C	A32380066T	BRCA2	NM_000059.3(BRCA2):c.9177del:p.Lys3059fs	coding	Pathogenic
13	32380063	C	CA	T32380067A	BRCA2	NM_000059.4(BRCA2):c.9177dup:p.Phe3060fs	coding	Pathogenic
13	32380071	T	TA	G32380073A	BRCA2	NM_000059.3(BRCA2):c.9183dup:p.Asp3062fs	coding	Pathogenic
13	32380081	CT	C	T32380084C	BRCA2	NM_000059.4(BRCA2):c.9195del:p.Gln3066fs	coding	Pathogenic
13	32380081	CTT	C	T32380083C	BRCA2	NM_000059.3(BRCA2):c.9194_9195del:p.Phe3065fs	coding	Pathogenic
13	32380082	T	TA	T32380083A	BRCA2	NM_000059.3(BRCA2):c.9193_9194insA:p.Phe3065fs	coding	Pathogenic
13	32380083	T	TA	T32380084A	BRCA2	NM_000059.3(BRCA2):c.9194_9195insA:p.Phe3065fs	coding	Pathogenic
13	32380084	TC	AT	T32380084A	BRCA2	NM_000059.3(BRCA2):c.9195_9196delinsAT:p.Phe3065_Gln3066delinsLeuTer	coding	Pathogenic
13	32380097	T	TC	T32380099C	BRCA2	NM_000059.3(BRCA2):c.9209dup:p.Ser3070_Glu3071insTer	coding	Pathogenic
13	32380100	G	GA	G32380102A	BRCA2	NM_000059.3(BRCA2):c.9212dup:p.Val3072fs	coding	Pathogenic
13	32380104	TGGACCTAATA	T	C32380108T	BRCA2	NM_000059.3(BRCA2):c.9219_9228del:p.Ile3075fs	coding	Pathogenic
13	32380106	G	GATTT	C32380108T	BRCA2	NM_000059.3(BRCA2):c.9218_9219insTTTA:p.Ile3075fs	coding	Pathogenic
13	32380107	A	AATTT	C32380108A	BRCA2	NM_000059.3(BRCA2):c.9218_9219insATTT:p.Asp3073fs	coding	Pathogenic
13	32380113	T	TA	G32380115A	BRCA2	NM_000059.3(BRCA2):c.9225dup:p.Gly3076fs	coding	Pathogenic
13	32380114	AG	A	G32380116A	BRCA2	NM_000059.3(BRCA2):c.9227del:p.Gly3076fs	coding	Pathogenic
13	32380121	GT	G	T32380122C	BRCA2	NM_000059.3(BRCA2):c.9233del:p.Val3078fs	coding	Pathogenic
13	32380123	CG	C	G32380124T	BRCA2	NM_000059.3(BRCA2):c.9235del:p.Val3079fs	coding	Pathogenic
13	32380134	T	TG	A32380136G	BRCA2	NM_000059.3(BRCA2):c.9246dup:p.Lys3083fs	coding	Pathogenic
13	32380135	GA	G	A32380142C	BRCA2	NM_000059.3(BRCA2):c.9253del:p.Thr3085fs	coding	Pathogenic
13	32380135	G	GA	C32380143A	BRCA2	NM_000059.3(BRCA2):c.9253dupA:p.Thr3085Asnfs	coding	Pathogenic
13	32380141	AACA	TT	A32380141T	BRCA2	NM_000059.3(BRCA2):c.9252_9255delinsTT:p.Lys3084fs	coding	Pathogenic
13	32380142	A	AC	A32380144C	BRCA2	NM_000059.3(BRCA2):c.9254dup:p.Gly3086fs	coding	Pathogenic
13	32380145	GGT	ACAG	G32380145A	BRCA2	NM_000059.3(BRCA2):c.9256_9256+2delinsACAG	coding	Pathogenic
13	32380145	GG	TA	G32380145T	BRCA2	NM_000059.3(BRCA2):c.9256_9256+1delinsTA	coding	Pathogenic/Likely_pathogenic
13	32386567	AAAAACCATTTGTATGAAGCAGAAAAAAAATG	A	A32386568T	BRCA2	NM_000059.3(BRCA2):c.9256+6423_9256+6453del	noncoding	Benign
13	32393237	TC	T	C32393238A	BRCA2	NM_000059.3(BRCA2):c.9257-1451del	noncoding	Benign
13	32394671	C	CT	C32394680T	BRCA2	NM_000059.3(BRCA2):c.9257-10dup	noncoding	Benign/Likely_benign
13	32394682	ATTCTAGGACTTGCCCCTTTCGTCTATT	A	T32394684G	BRCA2	NM_000059.3(BRCA2):c.9257-5_9278del	noncoding	Pathogenic
13	32394685	C	CTAGGACT	G32394694A	BRCA2	NM_000059.3(BRCA2):c.9257-2_9261dup	noncoding	Pathogenic
13	32394685	CTAGGA	C	T32394686C	BRCA2	NM_000059.3(BRCA2):c.9257-3_9258del	noncoding	Pathogenic
13	32394687	AG	A	G32394689A	BRCA2	NM_000059.3(BRCA2):c.9257delG	noncoding	Pathogenic
13	32394693	TG	T	G32394694C	BRCA2	NM_000059.3(BRCA2):c.9262del:p.Ala3088fs	coding	Pathogenic
13	32394693	T	TG	C32394695G	BRCA2	NM_000059.3(BRCA2):c.9262dup:p.Ala3088fs	coding	Pathogenic
13	32394698	C	CT	C32394702T	BRCA2	NM_000059.3(BRCA2):c.9269dupT:p.Val3091Argfs	coding	Pathogenic
13	32394701	TC	T	C32394702G	BRCA2	NM_000059.3(BRCA2):c.9270del:p.Phe3090fs	coding	Pathogenic
13	32394702	C	CTATTT	G32394703T	BRCA2	NM_000059.3(BRCA2):c.9270_9271insTATTT:p.Val3091fs	coding	Pathogenic
13	32394705	CTA	C	A32394707T	BRCA2	NM_000059.3(BRCA2):c.9275_9276del:p.Tyr3092fs	coding	Pathogenic
13	32394705	CTATT	C	A32394707G	BRCA2	NM_000059.3(BRCA2):c.9275_9278del:p.Tyr3092fs	coding	Pathogenic
13	32394705	CT	C	T32394706A	BRCA2	NM_000059.3(BRCA2):c.9274del:p.Tyr3092fs	coding	Pathogenic
13	32394707	AT	A	T32394710G	BRCA2	NM_000059.3(BRCA2):c.9278del:p.Leu3093fs	coding	Pathogenic
13	32394708	TTTGTCAGACGA	T	T32394709A	BRCA2	NM_000059.3(BRCA2):c.9277_9287del:p.Leu3093fs	coding	Pathogenic
13	32394717	C	CG	A32394719G	BRCA2	NM_000059.3(BRCA2):c.9286dup:p.Glu3096fs	coding	Pathogenic
13	32394721	TGTTA	T	G32394722C	BRCA2	NM_000059.3(BRCA2):c.9290_9293del:p.Cys3097fs	coding	Pathogenic
13	32394722	GTTACAAT	G	A32394727T	BRCA2	NM_000059.3(BRCA2):c.9295_9301del:p.Asn3099fs	coding	Pathogenic
13	32394722	GTTACAATTTACTGGCA	G	T32394723A	BRCA2	NM_000059.3(BRCA2):c.9291_9306del:p.Glu3096_Cys3097insTer	coding	Pathogenic
13	32394737	C	CAATAAAGTTTTGGATAGACCTT	G32394763A	BRCA2	NM_000059.3(BRCA2):c.9309_9330dup:p.Glu3111delinsLysValLeuAspArgProTer	coding	Pathogenic
13	32394740	TAA	T	A32394742G	BRCA2	NM_000059.3(BRCA2):c.9310_9311del:p.Lys3104fs	coding	Pathogenic
13	32394740	T	TA	G32394744A	BRCA2	NM_000059.3(BRCA2):c.9311dup:p.Phe3105fs	coding	Pathogenic
13	32394742	A	ATTAT	A32394743T	BRCA2	NM_000059.3(BRCA2):c.9310_9311insTTAT:p.Lys3104fs	coding	Pathogenic
13	32394743	A	ATTAT	G32394744T	BRCA2	NM_000059.3(BRCA2):c.9311_9312insTTAT:p.Lys3104fs	coding	Pathogenic
13	32394754	G	GAATT	C32394756A	BRCA2	NM_000059.3(BRCA2):c.9323_9324insATTA:p.Asp3108fs	coding	Pathogenic
13	32394755	AC	A	C32394757T	BRCA2	NM_000059.3(BRCA2):c.9325del:p.Asn3110fs	coding	Pathogenic
13	32394759	T	TA	T32394762A	BRCA2	NM_000059.3(BRCA2):c.9329dup:p.Asn3110fs	coding	Pathogenic
13	32394761	A	AT	G32394763T	BRCA2	NM_000059.3(BRCA2):c.9330dup:p.Glu3111Ter	coding	Pathogenic
13	32394763	GAGGA	CCT	G32394763C	BRCA2	NM_000059.3(BRCA2):c.9331_9335delinsCCT:p.Glu3111fs	coding	Pathogenic
13	32394781	CA	C	A32394782T	BRCA2	NM_000059.3(BRCA2):c.9350del:p.His3117fs	coding	Pathogenic
13	32394781	CAT	C	A32394784G	BRCA2	NM_000059.3(BRCA2):c.9350_9351AT[1]:p.Met3118fs	coding	Pathogenic
13	32394781	C	CAT	G32394786A	BRCA2	NM_000059.3(BRCA2):c.9350_9351AT[3]:p.Met3118fs	coding	Pathogenic
13	32394782	A	AT	A32394784T	BRCA2	NM_000059.3(BRCA2):c.9351dup:p.Met3118fs	coding	Pathogenic
13	32394784	A	AAT	T32394785A	BRCA2	NM_000059.3(BRCA2):c.9352_9353insAT:p.Met3118fs	coding	Pathogenic
13	32394784	ATG	A	G32394786T	BRCA2	NM_000059.3(BRCA2):c.9354_9355del:p.Met3118fs	coding	Pathogenic
13	32394786	GTTAA	G	A32394789G	BRCA2	NM_000059.3(BRCA2):c.9357_9360del:p.Ile3120fs	coding	Pathogenic
13	32394788	TA	G	T32394788G	BRCA2	NM_000059.3(BRCA2):c.9356_9357delinsG:p.Met3118_Leu3119insTer	coding	Pathogenic
13	32394790	AT	A	T32394792G	BRCA2	NM_000059.3(BRCA2):c.9360del:p.Ile3120fs	coding	Pathogenic
13	32394797	CAA	C	A32394798G	BRCA2	NM_000059.3(BRCA2):c.9366_9367del:p.Ser3123fs	coding	Pathogenic
13	32394806	TC	T	C32394808A	BRCA2	NM_000059.3(BRCA2):c.9376del:p.Gln3126fs	coding	Pathogenic
13	32394811	TGGCGACCA	T	G32394813A	BRCA2	NM_000059.3(BRCA2):c.9381_9388del:p.Trp3127_Glu3130delinsTer	coding	Pathogenic
13	32394814	C	CG	A32394816G	BRCA2	NM_000059.3(BRCA2):c.9383dup:p.Pro3129fs	coding	Pathogenic
13	32394816	A	AG	C32394817G	BRCA2	NM_000059.3(BRCA2):c.9384_9385insG:p.Pro3129fs	coding	Pathogenic
13	32394818	C	CCTGATTTGGACCACT	A32394819C	BRCA2	NM_000059.3(BRCA2):c.9386_9387insCTGATTTGGACCACT:p.Glu3130_Ser3131insTer	coding	Pathogenic
13	32394823	TC	T	C32394825A	BRCA2	NM_000059.3(BRCA2):c.9393del:p.Lys3132fs	coding	Pathogenic
13	32394831	AG	A	G32394833C	BRCA2	NM_000059.3(BRCA2):c.9401del:p.Gly3134fs	coding	Pathogenic
13	32394833	GC	G	C32394835T	BRCA2	NM_000059.3(BRCA2):c.9403del:p.Leu3135fs	coding	Pathogenic
13	32394837	TCTTA	T	A32394841T	BRCA2	NM_000059.3(BRCA2):c.9409_9412del:p.Thr3137fs	coding	Pathogenic
13	32394838	CT	C	T32394840A	BRCA2	NM_000059.3(BRCA2):c.9408del:p.Thr3137fs	coding	Pathogenic
13	32394842	C	CT	A32394846T	BRCA2	NM_000059.3(BRCA2):c.9413dup:p.Leu3138fs	coding	Pathogenic
13	32394846	ATTTGCTGGAGATT	A	G32394850C	BRCA2	NM_000059.3(BRCA2):c.9418_9430del:p.Ala3140fs	coding	Pathogenic
13	32394854	GA	G	A32394855G	BRCA2	NM_000059.3(BRCA2):c.9423del:p.Asp3142fs	coding	Pathogenic
13	32394854	G	GA	G32394856A	BRCA2	NM_000059.3(BRCA2):c.9423dup:p.Asp3142fs	coding	Pathogenic
13	32394857	AT	A	T32394862C	BRCA2	NM_000059.3(BRCA2):c.9430del:p.Ser3144fs	coding	Pathogenic
13	32394857	ATT	A	T32394861C	BRCA2	NM_000059.3(BRCA2):c.9429_9430del:p.Ser3144fs	coding	Pathogenic
13	32394862	TC	T	C32394863T	BRCA2	NM_000059.3(BRCA2):c.9431del:p.Ser3144fs	coding	Pathogenic
13	32394863	CTG	C	G32394867T	BRCA2	NM_000059.3(BRCA2):c.9433_9434GT[1]:p.Ser3147fs	coding	Pathogenic
13	32394867	G	GT	C32394872T	BRCA2	NM_000059.4(BRCA2):c.9439dup:p.Ser3147fs	coding	Pathogenic
13	32394871	T	TC	T32394873C	BRCA2	NM_000059.3(BRCA2):c.9440dup:p.Ala3148fs	coding	Pathogenic
13	32394875	CT	C	T32394876A	BRCA2	NM_000059.3(BRCA2):c.9444del:p.Ser3149fs	coding	Pathogenic
13	32394881	CA	C	A32394885G	BRCA2	NM_000059.3(BRCA2):c.9453del:p.Glu3152fs	coding	Pathogenic
13	32394884	A	AAG	G32394889A	BRCA2	NM_000059.3(BRCA2):c.9453_9454AG[3]:p.Gly3153fs	coding	Pathogenic
13	32394884	AAG	A	A32394887G	BRCA2	NM_000059.3(BRCA2):c.9453_9454AG[1]:p.Glu3152fs	coding	Pathogenic
13	32394887	AG	A	G32394890C	BRCA2	NM_000059.3(BRCA2):c.9458del:p.Gly3153fs	coding	Pathogenic
13	32394895	TTTCA	GAATGATC	T32394895G	BRCA2	NM_000059.3(BRCA2):c.9463_9467delinsGAATGATC:p.Phe3155_Gln3156delinsGluTer	coding	Pathogenic
13	32394897	TC	T	C32394898A	BRCA2	NM_000059.3(BRCA2):c.9466del:p.Gln3156fs	coding	Pathogenic
13	32394901	GA	G	A32394902G	BRCA2	NM_000059.3(BRCA2):c.9470del:p.Glu3157fs	coding	Pathogenic
13	32394905	CA	C	A32394906T	BRCA2	NM_000059.3(BRCA2):c.9474del:p.Phe3159fs	coding	Pathogenic
13	32394928	G	GT	G32394931T	BRCA2	NM_000059.3(BRCA2):c.9498dup:p.Glu3167Ter	coding	Pathogenic
13	32394928	GT	G	T32394930G	BRCA2	NM_000059.3(BRCA2):c.9498del:p.Glu3167fs	coding	Pathogenic
13	32394929	TTGAGG	T	G32394931A	BRCA2	NM_000059.3(BRCA2):c.9499_9501+2del	coding	Pathogenic
13	32396901	AT	A	T32396903G	BRCA2	NM_000059.3(BRCA2):c.9507del:p.Ile3169fs	coding	Pathogenic
13	32396907	ATACT	A	A32396909T	BRCA2	NM_000059.3(BRCA2):c.9513_9516del:p.Leu3172fs	coding	Pathogenic
13	32396911	T	TTTCTAAGTCAAATGTTTTCAAAACAATTGACATTGTTTTC	G32396914C	BRCA2	NM_000059.3(BRCA2):c.9517_9518insCTAAGTCAAATGTTTTCAAAACAATTGACATTGTTTTCTT:p.Cys3173fs	coding	Pathogenic
13	32396912	T	TTTCTAAGTCAAATGTTTTCAAAACAATTGACATTGTTTTC	G32396914T	BRCA2	NM_000059.3(BRCA2):c.9517_9518insTCTAAGTCAAATGTTTTCAAAACAATTGACATTGTTTTCT:p.Cys3173delinsPheTer	coding	Pathogenic
13	32396918	TG	AT	T32396918A	BRCA2	NM_000059.3(BRCA2):c.9522_9523delinsAT:p.Asn3174_Glu3175delinsLysTer	coding	Pathogenic
13	32396929	AC	A	C32396930A	BRCA2	NM_000059.4(BRCA2):c.9534del:p.Asn3178fs	coding	Pathogenic
13	32396932	A	AG	C32396934G	BRCA2	NM_000059.3(BRCA2):c.9537dup:p.Leu3180fs	coding	Pathogenic
13	32396932	AGCTTATGC	A	G32396933A	BRCA2	NM_000059.3(BRCA2):c.9537_9544del:p.Leu3180fs	coding	Pathogenic
13	32396936	TATGCATATACTGCA	T	A32396937T	BRCA2	NM_000059.3(BRCA2):c.9541_9554del:p.Met3181fs	coding	Pathogenic
13	32396944	T	TACTGCATGCAAATG	T32396960C	BRCA2	NM_000059.3(BRCA2):c.9550_9563dup:p.Pro3189fs	coding	Pathogenic
13	32396952	GCAAATGATCCC	AAGTGGTCCACCCCAACTA	G32396952A	BRCA2	NM_000059.3(BRCA2):c.9556_9567delinsAAGTGGTCCACCCCAACTA:p.Ala3186fs	coding	Pathogenic
13	32396973	ACC	A	C32396976A	BRCA2	NM_000059.3(BRCA2):c.9580_9581del:p.Pro3194fs	coding	Pathogenic
13	32396980	CTA	AT	C32396980A	BRCA2	NM_000059.4(BRCA2):c.9584_9586delinsAT:p.Thr3195fs	coding	Pathogenic
13	32396981	TA	T	A32396984G	BRCA2	NM_000059.3(BRCA2):c.9588del:p.Asp3197fs	coding	Pathogenic
13	32396987	CTG	C	G32396989A	BRCA2	NM_000059.3(BRCA2):c.9593_9594del:p.Cys3198fs	coding	Pathogenic
13	32396990	T	TAC	T32396993A	BRCA2	NM_000059.4(BRCA2):c.9595_9596dup:p.Ser3200fs	coding	Pathogenic
13	32397003	TAC	T	A32397006T	BRCA2	NM_000059.3(BRCA2):c.9608_9609AC[1]:p.Thr3204fs	coding	Pathogenic
13	32397028	C	CA	G32397030A	BRCA2	NM_000059.3(BRCA2):c.9633dup:p.Gly3212fs	coding	Pathogenic
13	32397148	AT	A	T32397150A	BRCA2	NM_000059.3(BRCA2):c.9648+106del	noncoding	Benign
13	32397940	TCTTC	T	C32397948T	BRCA2	NM_000059.3(BRCA2):c.9649-214_9649-211del	noncoding	Benign
13	32398161	GATGTCTTCTCCTAATTGTGAGATATATTATCAAAGTCCTTTATCACTTTGTATGGCCAAAAGGAAGTCTGTTTCCACACCTGTCTCAGCCCAGATGACTTCAAAGTCTTGTAAAGGGGAGAAAGAGATTGATGACCAAAAGAACTGCAAAAAGAGAAGAGCCTTGGATTTCTTGAGTAGACTGCCTTTACCTCCACCTGTTAGTCCCATTTGTACATTTGTTTCTCCGGCTGCACAGAAGGCATTTCAGCCACCAAGGAGTTGTGGCACCAAATACGAAACACCCATAAAGAAAAAAGAACTGAATTCTCCTCAGATGACTCCATTTAAAAAATTCAATGAAATTTCTCTTTTGGAAAGTAATTCAATAGCTGACGAAGAACTTGCATTGATAAATACCCAAGCTCTTTTGTCTGGTTCAACAGGAGAAAAACAATTTATATCTGTCAGTGAATCCACTAGGACTGCTCCCACCAGTTCAGAAGATTATCTCAGACTGAAACGACGTTGTACTACATCTCTGATCAAAGAACAGGAGAGTTCCCAGGCCAGTACGGAAGAATGTGAGAAAAATAAGCAGGACACAATTACAACTAAAAAATATATCTAA	G	A32398162G	BRCA2	NM_000059.3(BRCA2):c.9649_10257del:p.Met3217_Ter3419del	coding	Pathogenic
13	32398178	GT	G	T32398179G	BRCA2	NM_000059.3(BRCA2):c.9666del:p.Cys3222fs	coding	Pathogenic
13	32398184	TA	T	A32398185T	BRCA2	NM_000059.3(BRCA2):c.9672del:p.Tyr3225fs	coding	Pathogenic/Likely_pathogenic
13	32398184	T	TA	T32398186A	BRCA2	NM_000059.3(BRCA2):c.9672dup:p.Tyr3225fs	coding	Pathogenic
13	32398186	T	TA	T32398188A	BRCA2	NM_000059.3(BRCA2):c.9674dup:p.Tyr3225Ter	coding	Pathogenic
13	32398187	AT	A	T32398189A	BRCA2	NM_000059.3(BRCA2):c.9676del:p.Tyr3226fs	coding	Pathogenic
13	32398192	CA	C	A32398195G	BRCA2	NM_000059.3(BRCA2):c.9682del:p.Ser3228fs	coding	Pathogenic
13	32398199	CT	C	T32398202A	BRCA2	NM_000059.3(BRCA2):c.9689del:p.Leu3230fs	coding	Pathogenic
13	32398205	CA	C	A32398206C	BRCA2	NM_000059.3(BRCA2):c.9693del:p.Leu3232fs	coding	Pathogenic
13	32398209	TTGTA	T	T32398212G	BRCA2	NM_000059.3(BRCA2):c.9699_9702del:p.Cys3233fs	coding	Pathogenic
13	32398217	C	CG	C32398218G	BRCA2	NM_000059.3(BRCA2):c.9704_9705insG:p.Lys3236fs	coding	Pathogenic
13	32398229	C	CAT	T32398230A	BRCA2	NM_000059.3(BRCA2):c.9716_9717insAT:p.Val3240fs	coding	Pathogenic
13	32398229	C	CTA	G32398231A	BRCA2	NM_000059.3(BRCA2):c.9717_9718insAT:p.Val3240fs	coding	Pathogenic
13	32398239	AC	A	C32398241T	BRCA2	NM_000059.3(BRCA2):c.9728del:p.Pro3243fs	coding	Pathogenic
13	32398259	C	CT	C32398262T	BRCA2	NM_000059.3(BRCA2):c.9748dup:p.Ser3250fs	coding	Pathogenic
13	32398265	AG	A	G32398266T	BRCA2	NM_000059.3(BRCA2):c.9753del:p.Lys3251fs	coding	Pathogenic
13	32398279	GAGAA	G	A32398283G	BRCA2	NM_000059.3(BRCA2):c.9770_9773del:p.Lys3257fs	coding	Pathogenic
13	32398281	GAA	G	A32398283G	BRCA2	NM_000059.3(BRCA2):c.9770_9771del:p.Lys3257fs	coding	Pathogenic/Likely_pathogenic
13	32398283	AAGAG	A	G32398285T	BRCA2	NM_000059.3(BRCA2):c.9772_9775del:p.Glu3258fs	coding	Pathogenic
13	32398288	AT	A	T32398290G	BRCA2	NM_000059.3(BRCA2):c.9777del:p.Ile3259fs	coding	Pathogenic
13	32398291	GAT	G	A32398292G	BRCA2	NM_000059.4(BRCA2):c.9779_9780del:p.Asp3260fs	coding	Pathogenic
13	32398300	AAG	A	G32398302A	BRCA2	NM_000059.3(BRCA2):c.9789_9790del:p.Asn3264fs	coding	Pathogenic
13	32398320	AG	A	G32398321C	BRCA2	NM_000059.3(BRCA2):c.9808del:p.Ala3270fs	coding	Pathogenic
13	32398321	G	GC	T32398324C	BRCA2	NM_000059.3(BRCA2):c.9810dup:p.Asp3272fs	coding	Pathogenic
13	32398336	AG	A	G32398337T	BRCA2	NM_000059.3(BRCA2):c.9824del:p.Ser3275fs	coding	Pathogenic
13	32398358	C	CT	G32398360T	BRCA2	NM_000059.3(BRCA2):c.9846dup:p.Val3283fs	coding	Pathogenic
13	32398358	CT	C	T32398359G	BRCA2	NM_000059.4(BRCA2):c.9846del:p.Val3283fs	coding	Pathogenic
13	32398365	TC	T	C32398368A	BRCA2	NM_000059.4(BRCA2):c.9855del:p.Ile3286fs	coding	Pathogenic
13	32398380	TG	T	G32398381T	BRCA2	NM_000059.3(BRCA2):c.9868del:p.Val3290fs	coding	Pathogenic
13	32398381	GT	G	T32398384C	BRCA2	NM_000059.3(BRCA2):c.9871del:p.Ser3291fs	coding	Pathogenic
13	32398398	GA	G	A32398400G	BRCA2	NM_000059.3(BRCA2):c.9887del:p.Lys3296fs	coding	Pathogenic
13	32398403	C	CATTT	C32398408A	BRCA2	NM_000059.3(BRCA2):c.9891_9894dup:p.Gln3299fs	coding	Pathogenic
13	32398607	T	TGAATTATATC	C32398608G	BRCA2	NM_000059.3(BRCA2):c.10094_10095insGAATTATATC:p.Ser3366fs	coding	Benign/Likely_benign
13	32399142	GA	G	A32399152G	BRCA2	NM_000059.3(BRCA2):c.*382del	noncoding	Benign
13	32399599	AT	A	T32399609C	BRCA2	NM_000059.3(BRCA2):c.*839del	noncoding	Benign
13	32443085	A	AT	G32443092T	N4BP2L2	NM_001278432.1(N4BP2L2):c.1406dup:p.Asn469fs	coding	Pathogenic
13	33063776	C	CA	G33063791A	KL	NM_004795.4(KL):c.2702-59dup	noncoding	Benign
13	35173516	CAG	C	A35173517G	NBEA	NM_001385012.1(NBEA):c.4477_4478del:p.Arg1493fs	coding	Pathogenic
13	35475279	CG	C	G35475283A	MAB21L1	NM_005584.5(MAB21L1):c.859del:p.Arg287fs	coding	Pathogenic
13	35475297	TC	T	C35475298G	MAB21L1	NM_005584.5(MAB21L1):c.841del:p.Glu281fs	coding	Pathogenic
13	35475403	A	AG	C35475405G	MAB21L1	NM_005584.5(MAB21L1):c.735dup:p.Cys246fs	coding	Pathogenic
13	36314259	G	GT	A36314261T	SPART	NM_015087.5(SPART):c.1450dup:p.Thr484fs	coding	Pathogenic
13	36329415	GT	G	T36329418C	SPART	NM_015087.5(SPART):c.1110del:p.Lys370fs	coding	Pathogenic
13	36335134	CA	C	A36335142T	SPART	NM_015087.5(SPART):c.696del:p.Phe232fs	coding	Pathogenic
13	36335465	CAT	C	A36335466G	SPART	NM_015087.5(SPART):c.364_365del:p.Met122fs	coding	Pathogenic
13	36827780	GT	G	T36827786A	RFXAP	NM_000538.3(RFXAP):c.*33del	noncoding	Benign
13	36845100	ATGTG	A	G36845112A	SMAD9	NM_005905.6(SMAD9):c.*3562_*3563CA[5]	noncoding	Benign
13	37002475	CAT	C	A37002478T	EXOSC8	NM_181503.3(EXOSC8):c.55-10_55-9del	noncoding	Benign
13	38349764	TTCA	T	T38349765G	UFM1	NM_001286704.1(UFM1):c.-273_-271delTCA	noncoding	Pathogenic
13	38687356	CG	C	G38687359A	FREM2	NM_207361.6(FREM2):c.15del:p.Thr6fs	coding	Pathogenic
13	38687742	CT	C	T38687743G	FREM2	NM_207361.6(FREM2):c.399del:p.Gly134fs	coding	Pathogenic
13	38687788	GGACCGCGTCC	G	A38687790G	FREM2	NM_207361.6(FREM2):c.446_455del:p.Asp149fs	coding	Pathogenic
13	38688091	G	GGA	C38688096G	FREM2	NM_207361.6(FREM2):c.750_751dup:p.Thr251fs	coding	Pathogenic
13	38688609	CA	C	A38688610G	FREM2	NM_207361.6(FREM2):c.1266del:p.Asp423fs	coding	Pathogenic
13	38690377	G	GGGCTCT	T38690385G	FREM2	NM_207361.6(FREM2):c.3035_3040dup:p.Gly1012_Ser1013dup	coding	Benign/Likely_benign
13	38690445	TGA	T	A38690447T	FREM2	NM_207361.6(FREM2):c.3103_3104del:p.Leu1036fs	coding	Pathogenic
13	38691233	AT	A	T38691234C	FREM2	NM_207361.6(FREM2):c.3890del:p.Ile1297fs	coding	Pathogenic
13	38692505	C	CA	G38692507A	FREM2	NM_207361.6(FREM2):c.5162dup:p.Phe1722fs	coding	Pathogenic
13	38784742	A	AT	G38784744T	FREM2	NM_207361.6(FREM2):c.5954dup:p.Met1985fs	coding	Pathogenic/Likely_pathogenic
13	38848477	GGG	AATTACAGAA	G38848477A	FREM2	NM_207361.6(FREM2):c.6186_6188delinsAATTACAGAA:p.Gly2063fs	coding	Pathogenic
13	38861415	C	CT	C38861427T	FREM2	NM_207361.6(FREM2):c.7520-5dup	noncoding	Benign
13	38861415	C	CTT	C38861427T	FREM2	NM_207361.6(FREM2):c.7520-6_7520-5dup	noncoding	Benign
13	39655705	A	AG	C39655711G	COG6	NM_020751.3(COG6):c.-17dup	noncoding	Benign/Likely_benign
13	39679963	A	AT	A39679973T	COG6	NM_020751.3(COG6):c.624-3dup	noncoding	Benign/Likely_benign
13	39682201	GT	G	T39682202G	COG6	NM_020751.3(COG6):c.726del:p.Cys242fs	coding	Pathogenic
13	39699572	T	TA	T39699574A	COG6	NM_020751.3(COG6):c.1239dup:p.Phe414fs	coding	Pathogenic
13	39724499	TTTA	T	T39724500A	COG6	NM_020751.3(COG6):c.1693-8_1693-6del	noncoding	Benign
13	39724500	TTA	T	T39724501A	COG6	NM_020751.3(COG6):c.1693-7_1693-6del	noncoding	Benign/Likely_benign
13	39724501	TA	T	A39724504T	COG6	NM_020751.3(COG6):c.1693-4del	noncoding	Benign/Likely_benign
13	39752147	CA	C	A39752156C	COG6	NM_020751.3(COG6):c.*1063del	coding	Benign
13	40799058	AG	A	G40799060T	SLC25A15	NM_014252.4(SLC25A15):c.59del:p.Gly20fs	coding	Pathogenic
13	40799112	G	GCAGA	G40799118A	SLC25A15	NM_014252.4(SLC25A15):c.113_116dup:p.Phe40fs	coding	Pathogenic
13	40799209	GC	TT	G40799209T	SLC25A15	NM_014252.4(SLC25A15):c.208_209delinsTT:p.Ala70Leu	coding	Pathogenic/Likely_pathogenic
13	40805209	AC	A	C40805211A	SLC25A15	NM_014252.4(SLC25A15):c.408del:p.Met137fs	coding	Pathogenic
13	40805248	AG	A	G40805249C	SLC25A15	NM_014252.4(SLC25A15):c.446del:p.Ser149fs	coding	Pathogenic
13	40807393	TTTC	T	T40807403G	SLC25A15	NM_014252.4(SLC25A15):c.553_555TTC[3]:p.Phe188del	coding	Pathogenic
13	42606791	ACG	A	C42606792T	TNFSF11	NM_003701.4(TNFSF11):c.828_829del:p.Val277fs	coding	Pathogenic
13	42964145	G	GA	T42964155A	EPSTI1	NM_033255.5(EPSTI1):c.332-15dup	noncoding	Benign
13	43881111	CTG	C	G43881113A	LACC1	NM_153218.4(LACC1):c.128_129del:p.Cys43fs	coding	Pathogenic
13	43883855	AC	A	C43883856A	LACC1	NM_153218.4(LACC1):c.827del:p.Thr276fs	coding	Pathogenic
13	43888836	CATT	C	A43888837G	LACC1	NM_153218.4(LACC1):c.988_990del:p.Ile330del	coding	Pathogenic
13	47954472	CT	C	T47954473G	SUCLA2	NM_003850.2(SUCLA2):c.887del:p.Gln296fs	coding	Pathogenic
13	48261208	C	CTTTAATTTGT	C48261220T	ITM2B	NM_021999.5(ITM2B):c.787_796dup:p.Ser266fs	coding	Pathogenic
13	48303914	T	TGCCGCCCAAAACCCCCCGAAAAACGGCCGCCACC	G48303955C	RB1	NM_000321.2(RB1):c.9_42dup:p.Ala15fs	coding	Pathogenic
13	48303925	A	AC	G48303932C	RB1	NM_000321.2(RB1):c.19dup:p.Arg7fs	coding	Pathogenic
13	48303931	CGA	GG	C48303931G	RB1	NM_000321.2(RB1):c.19_21delinsGG:p.Arg7fs	coding	Pathogenic
13	48303944	CCACCGCCGCCGCTGCCGCCGCGGAACCCCCGG	C	T48303957C	RB1	NM_000321.2(RB1):c.45_76del:p.Ala17fs	coding	Pathogenic
13	48303946	AC	A	C48303948G	RB1	NM_000321.2(RB1):c.36del:p.Ala13fs	coding	Pathogenic
13	48303947	CCGCCGCCGCTGCCGCCGCGGAACCCCCGG	C	G48303949A	RB1	NM_000321.2(RB1):c.37_65del:p.Ala13fs	coding	Pathogenic
13	48303948	CGCCGCCGCT	C	T48303957G	RB1	NM_000321.2(RB1):c.45_53del:p.Ala16_Ala18del	coding	Benign
13	48303952	G	GCCGCTGCCGCCGCGGAACCCCCGGCA	C48303983T	RB1	NM_000321.2(RB1):c.45_70dup:p.Pro24fs	coding	Pathogenic
13	48303953	C	CCGCTGCCGCCGCGGAACCCCCGG	A48303978G	RB1	NM_000321.2(RB1):c.43_65dup:p.Pro23fs	coding	Pathogenic
13	48303957	TGCCGCCGCGGAACCCCCGGCACCGCC	T	G48303966C	RB1	NM_000321.2(RB1):c.54_79del:p.Glu19fs	coding	Pathogenic
13	48303957	T	TGCCGCCGCGGAACCCCCGGCACC	C48303989G	RB1	NM_000321.2(RB1):c.54_76dup:p.Pro26fs	coding	Pathogenic
13	48303958	G	GCCGCCGCGGAACCCCCGGCA	C48303986G	RB1	NM_000321.2(RB1):c.54_73dup:p.Pro25fs	coding	Pathogenic
13	48303969	ACCCCCGGCACCGC	A	C48303971G	RB1	NM_000321.3(RB1):c.59_71del:p.Pro20fs	coding	Pathogenic
13	48303990	GC	G	C48303995T	RB1	NM_000321.2(RB1):c.83del:p.Pro28fs	coding	Pathogenic
13	48304003	G	GA	G48304005A	RB1	NM_000321.2(RB1):c.92dup:p.Asp32fs	coding	Pathogenic
13	48304007	A	AC	A48304011C	RB1	NM_000321.3(RB1):c.98dup:p.Glu34fs	coding	Pathogenic
13	48304016	AG	A	G48304018A	RB1	NM_000321.2(RB1):c.106del:p.Asp36fs	coding	Pathogenic
13	48304025	GCC	CT	G48304025C	RB1	NM_000321.2(RB1):c.113_115delinsCT:p.Gly38fs	coding	Pathogenic
13	48304028	CG	C	G48304030A	RB1	NM_000321.3(RB1):c.118del:p.Glu40fs	coding	Pathogenic
13	48307352	CAG	C	A48307361C	RB1	NM_000321.3(RB1):c.211_212AG[4]:p.Arg73fs	coding	Pathogenic
13	48307358	GA	G	A48307359G	RB1	NM_000321.2(RB1):c.217del:p.Arg73fs	coding	Pathogenic
13	48307368	T	TTA	A48307371T	RB1	NM_000321.2(RB1):c.227_228dup:p.Thr77Ter	coding	Pathogenic
13	48342592	TTCC	T	T48342593C	RB1	NM_000321.2(RB1):c.265-6_265-4del	noncoding	Benign
13	48342603	GTTATA	G	A48342606C	RB1	NM_000321.2(RB1):c.272_276del:p.Tyr91fs	coding	Pathogenic
13	48342611	C	CA	G48342616A	RB1	NM_000321.2(RB1):c.281dup:p.Lys95fs	coding	Pathogenic
13	48342626	C	CTG	G48342631T	RB1	NM_000321.3(RB1):c.295_296dup:p.Trp99fs	coding	Pathogenic
13	48342631	G	GA	G48342632A	RB1	NM_000321.2(RB1):c.297_298insA:p.Gly100fs	coding	Pathogenic
13	48342637	CTG	C	G48342639A	RB1	NM_000321.2(RB1):c.305_306del:p.Cys102fs	coding	Pathogenic
13	48342641	ATCTT	A	C48342643A	RB1	NM_000321.3(RB1):c.309_312del:p.Phe104fs	coding	Pathogenic
13	48342703	CAT	C	T48342705G	RB1	NM_000321.2(RB1):c.371_372del:p.Ile124fs	coding	Pathogenic
13	48342707	GA	G	A48342710T	RB1	NM_000321.2(RB1):c.376del:p.Ile126fs	coding	Pathogenic
13	48345092	CT	C	T48345095A	RB1	NM_000321.2(RB1):c.396del:p.Phe132fs	coding	Pathogenic
13	48345132	GA	G	A48345133T	RB1	NM_000321.2(RB1):c.434del:p.Asp145fs	coding	Pathogenic
13	48345136	ATGCT	A	T48345137A	RB1	NM_000321.2(RB1):c.438_441del:p.Asn146fs	coding	Pathogenic
13	48345141	AT	A	T48345142G	RB1	NM_000321.2(RB1):c.443del:p.Met148fs	coding	Pathogenic
13	48345161	G	GT	A48345163T	RB1	NM_000321.2(RB1):c.463dup:p.Tyr155fs	coding	Pathogenic
13	48345163	A	ATGAT	G48345168T	RB1	NM_000321.2(RB1):c.465_468dup:p.Val157Ter	coding	Pathogenic
13	48347832	GA	G	A48347834C	RB1	NM_000321.2(RB1):c.510del:p.Glu170fs	coding	Pathogenic
13	48347847	ACACAACC	A	C48347850G	RB1	NM_000321.3(RB1):c.526_532del:p.Gln176fs	coding	Pathogenic
13	48347862	TC	T	C48347863G	RB1	NM_000321.2(RB1):c.539del:p.Ser179_Ser180insTer	coding	Pathogenic
13	48348964	CT	C	T48348965G	RB1	NM_000321.2(RB1):c.549del:p.Glu184fs	coding	Pathogenic
13	48349012	T	TATTAG	C48349018A	RB1	NM_000321.2(RB1):c.597_601dup:p.Ala201delinsAspTer	coding	Pathogenic
13	48349019	TA	T	A48349022G	RB1	NM_000321.2(RB1):c.606del:p.Glu204fs	coding	Pathogenic
13	48349024	G	GT	A48349026T	RB1	NM_000321.2(RB1):c.607+2dup	noncoding	Pathogenic/Likely_pathogenic
13	48360057	TC	T	C48360058A	RB1	NM_000321.2(RB1):c.649del:p.Gln217fs	coding	Pathogenic
13	48360088	AT	A	T48360090A	RB1	NM_000321.2(RB1):c.681del:p.Lys228fs	coding	Pathogenic
13	48360110	TG	T	G48360111C	RB1	NM_000321.2(RB1):c.702del:p.Leu234fs	coding	Pathogenic
13	48362821	C	CT	G48362823T	RB1	NM_000321.2(RB1):c.726dup:p.Val243fs	coding	Pathogenic
13	48362827	TA	ATC	T48362827A	RB1	NM_000321.2(RB1):c.731_732delinsATC:p.Ile244fs	coding	Pathogenic
13	48362828	AC	A	C48362831A	RB1	NM_000321.2(RB1):c.735del:p.Ile246fs	coding	Pathogenic
13	48362864	TCAGAA	T	A48362868G	RB1	NM_000321.2(RB1):c.772_776del:p.Asn258fs	coding	Pathogenic
13	48362887	CA	C	A48362891C	RB1	NM_000321.2(RB1):c.795del:p.Lys265fs	coding	Pathogenic
13	48362895	CT	C	T48362896A	RB1	NM_000321.2(RB1):c.800del:p.Leu267fs	coding	Pathogenic
13	48362940	GA	G	A48362942T	RB1	NM_000321.2(RB1):c.846del:p.Glu282fs	coding	Pathogenic
13	48362943	TGTAATATA	T	T48362945A	RB1	NM_000321.2(RB1):c.849_856del:p.Cys283_Asp286delinsTer	coding	Pathogenic
13	48362958	GT	G	T48362959A	RB1	NM_000321.2(RB1):c.861+2del	noncoding	Pathogenic
13	48364896	GA	G	A48364901T	RB1	NM_000321.2(RB1):c.869del:p.Asn290fs	coding	Pathogenic
13	48364911	C	CA	T48364917A	RB1	NM_000321.2(RB1):c.884dup:p.Asn295fs	coding	Pathogenic
13	48364920	TA	T	A48364921T	RB1	NM_000321.2(RB1):c.889del:p.Ile297fs	coding	Pathogenic
13	48367501	ATCTT	A	T48367505A	RB1	NM_000321.2(RB1):c.951_954del:p.Ser318fs	coding	Pathogenic
13	48367532	T	TAAAAATAAAGATCTAGATGCAAGATTATTTTTGGATCATGATAAAACTCTTCAGA	C48367588A	RB1	NM_000321.2(RB1):c.979_1033dup:p.Thr345delinsLysLysTer	coding	Pathogenic
13	48367574	TA	T	A48367578C	RB1	NM_000321.2(RB1):c.1024del:p.Thr342fs	coding	Pathogenic
13	48367580	TC	T	C48367581T	RB1	NM_000321.2(RB1):c.1027del:p.Leu343fs	coding	Pathogenic
13	48368526	GT	G	T48368530G	RB1	NM_000321.3(RB1):c.1053del:p.Phe351fs	coding	Pathogenic
13	48368530	TG	T	G48368531A	RB1	NM_000321.3(RB1):c.1054del:p.Glu352fs	coding	Pathogenic
13	48368533	AAC	A	C48368537G	RB1	NM_000321.3(RB1):c.1058_1059CA[1]:p.Gln354fs	coding	Pathogenic
13	48368537	CAG	C	G48368541A	RB1	NM_000321.2(RB1):c.1062_1063GA[1]:p.Arg355fs	coding	Pathogenic
13	48368549	CGA	GG	C48368549G	RB1	NM_000321.2(RB1):c.1072_1074delinsGG:p.Arg358fs	coding	Pathogenic
13	48373422	T	TC	A48373425C	RB1	NM_000321.2(RB1):c.1147dup:p.Gln383fs	coding	Pathogenic
13	48373467	CA	C	A48373468G	RB1	NM_000321.2(RB1):c.1191del:p.Glu398fs	coding	Pathogenic
13	48376929	GA	G	A48376931T	RB1	NM_000321.2(RB1):c.1229del:p.Asn410fs	coding	Pathogenic
13	48376939	GAA	G	A48376941G	RB1	NM_000321.2(RB1):c.1239_1240del:p.Ser414fs	coding	Pathogenic
13	48376950	GAA	G	A48376953G	RB1	NM_000321.2(RB1):c.1251_1252del:p.Arg418fs	coding	Pathogenic
13	48376958	TG	T	G48376959A	RB1	NM_000321.3(RB1):c.1257del:p.Lys420fs	coding	Pathogenic
13	48376976	T	TCTTTA	A48376982C	RB1	NM_000321.3(RB1):c.1275_1279dup:p.Lys427fs	coding	Pathogenic
13	48376977	C	CT	A48376981T	RB1	NM_000321.2(RB1):c.1278dup:p.Lys427Ter	coding	Pathogenic
13	48377020	G	GA	T48377024A	RB1	NM_000321.2(RB1):c.1321dup:p.Ile441fs	coding	Pathogenic
13	48377032	C	CAG	G48377035A	RB1	NM_000321.2(RB1):c.1331_1332dup:p.Arg445fs	coding	Pathogenic
13	48379605	T	TG	A48379608G	RB1	NM_000321.3(RB1):c.1346dup:p.Val450fs	coding	Pathogenic
13	48380023	CT	C	T48380036A	RB1	NM_000321.2(RB1):c.1390-17del	noncoding	Benign
13	48380053	GA	G	A48380055G	RB1	NM_000321.3(RB1):c.1392del:p.Glu465fs	coding	Pathogenic
13	48380063	G	GATTATCCATTC	A48380076T	RB1	NM_000321.2(RB1):c.1402_1412dup:p.Gln471Hisfs	coding	Pathogenic
13	48380078	AT	A	T48380082A	RB1	NM_000321.2(RB1):c.1419del:p.Phe473fs	coding	Pathogenic/Likely_pathogenic
13	48380083	AG	A	G48380085T	RB1	NM_000321.2(RB1):c.1421+1del	coding	Pathogenic
13	48380146	CT	C	T48380157C	RB1	NM_000321.3(RB1):c.1422-8del	noncoding	Benign
13	48380178	GACA	G	A48380182T	RB1	NM_000321.2(RB1):c.1436_1438ACA[1]:p.Asn480del	coding	Pathogenic
13	48380184	ATT	A	T48380188C	RB1	NM_000321.2(RB1):c.1445_1446del:p.Phe482fs	coding	Pathogenic
13	48380189	TC	T	C48380190A	RB1	NM_000321.2(RB1):c.1447del:p.His483fs	coding	Pathogenic
13	48380190	CAT	C	A48380193G	RB1	NM_000321.3(RB1):c.1448_1449AT[1]:p.Met484fs	coding	Pathogenic
13	48380195	GTCTT	G	C48380197A	RB1	NM_000321.3(RB1):c.1454_1457del:p.Ser485fs	coding	Pathogenic
13	48380197	CTT	C	T48380199A	RB1	NM_000321.2(RB1):c.1456_1457del:p.Leu486fs	coding	Pathogenic
13	48380200	TA	T	A48380201T	RB1	NM_000321.2(RB1):c.1458del:p.Leu486fs	coding	Pathogenic
13	48381227	CT	C	T48381237C	RB1	NM_000321.2(RB1):c.1499-10del	noncoding	Benign
13	48381246	GGAAGTACATCTCA	G	G48381250T	RB1	NM_000321.2(RB1):c.1502_1514del:p.Ser501fs	coding	Pathogenic
13	48381258	CAG	C	G48381260A	RB1	NM_000321.2(RB1):c.1512_1513del:p.Asn505fs	coding	Pathogenic
13	48381313	A	ATT	A48381317T	RB1	NM_000321.3(RB1):c.1567_1568dup:p.Leu523fs	coding	Pathogenic
13	48381321	GC	G	C48381323T	RB1	NM_000321.2(RB1):c.1575del:p.Phe526fs	coding	Pathogenic
13	48381328	A	AT	A48381334T	RB1	NM_000321.2(RB1):c.1585dup:p.Tyr529fs	coding	Pathogenic
13	48381330	T	TTTCAC	T48381333C	RB1	NM_000321.3(RB1):c.1584_1585insCACTT:p.Tyr529fs	coding	Pathogenic
13	48381376	CAA	C	A48381377G	RB1	NM_000321.2(RB1):c.1629_1630del:p.Glu545fs	coding	Pathogenic
13	48381380	AGAAATGAT	A	G48381381A	RB1	NM_000321.2(RB1):c.1633_1640del:p.Glu545fs	coding	Pathogenic
13	48381420	A	ATG	G48381423T	RB1	NM_000321.2(RB1):c.1673_1674dup:p.Glu559fs	coding	Pathogenic
13	48381433	C	CA	T48381435A	RB1	NM_000321.2(RB1):c.1686dup:p.Trp563fs	coding	Pathogenic
13	48412049	CTT	C	T48412051G	LPAR6	NM_001162497.2(LPAR6):c.373_374del:p.Lys125fs	coding	Pathogenic
13	48453000	CT	C	T48453003A	RB1	NM_000321.2(RB1):c.1706del:p.Leu569fs	coding	Pathogenic
13	48453052	CCTTGAATCTG	C	A48453057T	RB1	NM_000321.2(RB1):c.1760_1769del:p.Glu587fs	coding	Pathogenic
13	48453066	GT	G	T48453067C	RB1	NM_000321.3(RB1):c.1770del:p.Pro591fs	coding	Pathogenic
13	48453107	GA	G	A48453108T	RB1	NM_000321.2(RB1):c.1811del:p.Asp604fs	coding	Pathogenic
13	48456294	CT	C	T48456296C	RB1	NM_000321.2(RB1):c.1907del:p.Phe636fs	coding	Pathogenic
13	48456337	TTTTATAAAA	T	T48456338A	RB1	NM_000321.2(RB1):c.1949_1957del:p.Phe650_Lys653delinsTer	coding	Pathogenic
13	48456337	TTTTA	T	T48456339A	RB1	NM_000321.2(RB1):c.1950_1953del:p.Phe650fs	coding	Pathogenic
13	48456342	T	TA	G48456349A	RB1	NM_000321.2(RB1):c.1959dup:p.Val654fs	coding	Pathogenic
13	48456349	G	GC	G48456350C	RB1	NM_000321.2(RB1):c.1960_1960+1insC	coding	Pathogenic
13	48459703	ATCTCCGGCTAAATACACTT	A	C48459705G	RB1	NM_000321.2(RB1):c.1978_1996del:p.Leu660fs	coding	Pathogenic
13	48459733	TTCTG	T	T48459738A	RB1	NM_000321.2(RB1):c.2007_2010TCTG[1]:p.Glu672fs	coding	Pathogenic
13	48459781	AG	A	G48459782C	RB1	NM_000321.2(RB1):c.2055del:p.Gln685fs	coding	Pathogenic
13	48459794	GAATGAGTATGAA	CAC	G48459794C	RB1	NM_000321.2(RB1):c.2067_2079delinsCAC:p.Gln689fs	coding	Pathogenic
13	48463749	TATGGC	T	G48463752A	RB1	NM_000321.2(RB1):c.2128_2132del:p.Gly710fs	coding	Pathogenic
13	48463754	C	CA	T48463756A	RB1	NM_000321.2(RB1):c.2131dup:p.Ile711fs	coding	Pathogenic
13	48463784	ATTCAAAA	C	A48463784C	RB1	NM_000321.2(RB1):c.2160_2167delinsC:p.Lys720fs	coding	Pathogenic
13	48463794	A	AT	G48463797T	RB1	NM_000321.2(RB1):c.2172dup:p.Val725fs	coding	Pathogenic
13	48463817	TCCTC	T	C48463818A	RB1	NM_000321.2(RB1):c.2194_2197del:p.Pro732fs	coding	Pathogenic
13	48464958	C	CT	A48464983T	RB1	NM_000321.2(RB1):c.2212-16dup	noncoding	Benign
13	48464958	C	CTT	A48464983T	RB1	NM_000321.2(RB1):c.2212-17_2212-16dup	noncoding	Benign
13	48464958	C	CTTT	A48464983T	RB1	NM_000321.2(RB1):c.2212-18_2212-16dup	noncoding	Benign
13	48464958	C	CTTTTTTTTTTTTTT	A48464983T	RB1	NM_000321.2(RB1):c.2212-29_2212-16dup	noncoding	Benign
13	48464958	C	CTTTTTTTTTTTTTTTTTTTTTT	A48464983T	RB1	NM_000321.2(RB1):c.2212-37_2212-16dup	noncoding	Benign
13	48464958	CTT	C	T48464981A	RB1	NM_000321.2(RB1):c.2212-17_2212-16del	noncoding	Benign
13	48464958	CTTT	C	T48464980A	RB1	NM_000321.2(RB1):c.2212-18_2212-16del	noncoding	Benign
13	48464984	C	CTTTTTTTT	G48464986T	RB1	NM_000321.2(RB1):c.2212-13_2212-12insTTTTTTTT	noncoding	Benign
13	48465012	T	TTTGA	C48465018T	RB1	NM_000321.2(RB1):c.2228_2231dup:p.Lys745fs	coding	Pathogenic
13	48465022	GA	G	A48465024G	RB1	NM_000321.3(RB1):c.2238del:p.Glu747fs	coding	Pathogenic
13	48465029	AG	A	G48465030T	RB1	NM_000321.2(RB1):c.2244del:p.Glu748fs	coding	Pathogenic
13	48465030	GTA	G	A48465032G	RB1	NM_000321.3(RB1):c.2246_2247del:p.Glu748_Tyr749insTer	coding	Pathogenic
13	48465033	T	TAA	G48465034A	RB1	NM_000321.2(RB1):c.2247_2248insAA:p.Asp750fs	coding	Pathogenic
13	48465083	CAAAT	C	A48465085T	RB1	NM_000321.2(RB1):c.2299_2302del:p.Asn767fs	coding	Pathogenic
13	48465241	A	AGCCCTTACAAGTTTCCTAGTTC	A48465264G	RB1	NM_000321.3(RB1):c.2363_2384dup:p.Arg798_Ile799insGlnValSerTerProLeu	coding	Pathogenic
13	48465264	AC	A	C48465267T	RB1	NM_000321.3(RB1):c.2388del:p.Leu797fs	coding	Pathogenic
13	48465283	GGGAACATCTA	G	G48465284T	RB1	NM_000321.2(RB1):c.2405_2414del:p.Gly802fs	coding	Pathogenic
13	48465285	GA	G	A48465287C	RB1	NM_000321.3(RB1):c.2408del:p.Asn803fs	coding	Pathogenic
13	48465289	ATCTATATT	A	T48465292A	RB1	NM_000321.2(RB1):c.2413_2420del:p.Tyr805fs	coding	Pathogenic
13	48465312	TC	T	C48465314A	RB1	NM_000321.3(RB1):c.2435del:p.Pro812fs	coding	Pathogenic
13	48465329	AAGG	TTT	A48465329T	RB1	NM_000321.2(RB1):c.2450_2453delinsTTT:p.Glu817fs	coding	Pathogenic
13	48465330	AG	A	G48465332T	RB1	NM_000321.2(RB1):c.2453del:p.Gly818fs	coding	Pathogenic
13	48465342	AC	A	C48465344A	RB1	NM_000321.2(RB1):c.2465del:p.Pro822fs	coding	Pathogenic
13	48465347	C	CA	T48465353A	RB1	NM_000321.2(RB1):c.2473dup:p.Met825fs	coding	Pathogenic
13	48465366	AAGGTGTGTG	A	A48465367T	RB1	NM_000321.2(RB1):c.2488_2489+7del	coding	Pathogenic
13	48473357	CAG	C	G48473359A	RB1	NM_000321.2(RB1):c.2490-1_2490del	noncoding	Pathogenic
13	48473387	CG	C	G48473391T	RB1	NM_000321.2(RB1):c.2520+1del	coding	Pathogenic
13	48473390	GGTGA	G	G48473393A	RB1	NM_000321.2(RB1):c.2520+3_2520+6del	coding	Pathogenic
13	48476703	TTC	T	C48476705G	RB1	NM_000321.2(RB1):c.2525_2526del:p.Thr841_Ser842insTer	coding	Pathogenic
13	48476704	T	TC	T48476706C	RB1	NM_000321.2(RB1):c.2525dup:p.Ser842_Glu843insTer	coding	Pathogenic
13	50927461	TG	T	G50927463T	RNASEH2B	NM_001142279.2(RNASEH2B):c.121del:p.Val41fs	coding	Pathogenic
13	50927477	AG	A	G50927479T	RNASEH2B	NM_024570.4(RNASEH2B):c.136+1del	coding	Pathogenic
13	50943373	A	AT	A50943376T	RNASEH2B	NM_024570.4(RNASEH2B):c.491dup:p.Leu164fs	coding	Pathogenic
13	50956450	TA	T	A50956460T	RNASEH2B	NM_024570.4(RNASEH2B):c.925del:p.Ile309fs	coding	Benign
13	50956450	T	TA	T50956461A	RNASEH2B	NM_001142279.2(RNASEH2B):c.741+6955dup	coding	Benign/Likely_benign
13	51934958	TG	T	G51934961A	ATP7B	NM_000053.4(ATP7B):c.4195del:p.Gln1399fs	coding	Pathogenic
13	51935623	GAC	G	C51935627G	ATP7B	NM_000053.4(ATP7B):c.4090_4091GT[1]:p.Ser1365fs	coding	Pathogenic
13	51937290	AT	A	T51937291C	ATP7B	NM_000053.4(ATP7B):c.4006del:p.Ile1336fs	coding	Pathogenic
13	51937303	TATAA	T	A51937306C	ATP7B	NM_000053.4(ATP7B):c.3990_3993del:p.Tyr1331fs	coding	Pathogenic/Likely_pathogenic
13	51937322	CA	C	A51937323G	ATP7B	NM_000053.4(ATP7B):c.3974del:p.Leu1325fs	coding	Pathogenic
13	51937483	AG	A	G51937485A	ATP7B	NM_000053.4(ATP7B):c.3895del:p.Ile1300fs	coding	Pathogenic
13	51937535	C	CA	C51937537A	ATP7B	NM_000053.4(ATP7B):c.3843dup:p.Val1282fs	coding	Pathogenic
13	51937678	AC	A	C51937680T	ATP7B	NC_000013.11:g.51937680del	coding	Pathogenic
13	51939085	TC	T	C51939090G	ATP7B	NM_000053.4(ATP7B):c.3664del:p.Asp1222fs	coding	Pathogenic
13	51939161	C	CG	T51939163G	ATP7B	NM_000053.4(ATP7B):c.3588dup:p.Ala1197fs	coding	Pathogenic
13	51941187	GT	G	T51941190C	ATP7B	NM_000053.4(ATP7B):c.3449del:p.Asn1150fs	coding	Pathogenic/Likely_pathogenic
13	51942395	CG	C	G51942398A	ATP7B	NM_000053.4(ATP7B):c.3402del:p.Ala1135fs	coding	Pathogenic
13	51943925	T	TGGC	A51943926G	ATP7B	NM_000053.4(ATP7B):c.3243+183_3243+184insGCC	noncoding	Benign
13	51943933	AACT	A	A51943934G	ATP7B	NM_000053.4(ATP7B):c.3243+173_3243+175del	noncoding	Benign
13	51944204	TG	T	G51944206C	ATP7B	NM_000053.4(ATP7B):c.3147del:p.Thr1050fs	coding	Pathogenic
13	51944244	G	GA	C51944246A	ATP7B	NM_000053.4(ATP7B):c.3107dup:p.Arg1038fs	coding	Pathogenic
13	51944250	A	AT	G51944252T	ATP7B	NM_000053.4(ATP7B):c.3101dup:p.His1034fs	coding	Pathogenic
13	51944267	TCT	C	T51944267C	ATP7B	NM_000053.4(ATP7B):c.3083_3085delinsG:p.Lys1028fs	coding	Pathogenic
13	51944270	TGTCAAACATCACAGTCTTTATCTGCCAAAAACAACCACAACTCACTGACCACAATACAGATGGAGGGGCTTCCATAGTCACACTCCTGAGGCAGAACTTCACCCAACCTGCCTCAGACAGGAAACAAGACACCTGCACAGCTTCCTAACGTGATCCTCTGTCGTTCAATCTCAGGGTTCAACAACTCCCACTGCAAAGAAACTGTTTCCCTATGTGTCCAGTCAAACCAGCCACACTGAGGCTTGACCTTGACCAGGCAAAGCCAGAAACCCTCAGTCGGCTGTACAGGAGATGGCACAGCACTGTCCCCCAGACAGTGACACCATCCACATACTCCCCCACATCAGGTCAGGAGTCAGGACCCTGAGGGACACCTGCCTCCCTGTCCACTGCCATCCGCCGAGCCCAACCTCAGCTTCCTTTTGCCTGCCTAAGTGCAAAAGCTACTGGGAATAGAGTCCTCACACTCTGAGTTCAAGAAAGGAAAGGACTATTCTATGGCCATAATGACAAACAAACCCCCAGAGCCAGTTTTAAGTTGGTCACACTTAGTCAATGGCAGTCTGCAGA	T	A51944274C	ATP7B	NM_000053.4(ATP7B):c.3061-549_3081del	coding	Pathogenic
13	51946307	T	TG	C51946309G	ATP7B	NM_000053.4(ATP7B):c.3036dup:p.Lys1013fs	coding	Pathogenic/Likely_pathogenic
13	51946346	C	CG	T51946349G	ATP7B	NM_000053.4(ATP7B):c.2997dup:p.Gly1000fs	coding	Pathogenic
13	51946391	AG	A	G51946395C	ATP7B	NM_000053.4(ATP7B):c.2952del:p.Cys985fs	coding	Pathogenic
13	51946479	CT	C	T51946480G	ATP7B	NM_000053.4(ATP7B):c.2866-2del	noncoding	Pathogenic
13	51949694	TAAAACCG	T	A51949696T	ATP7B	NM_000053.4(ATP7B):c.2826_2832del:p.Gly943fs	coding	Pathogenic/Likely_pathogenic
13	51949716	CA	C	A51949717C	ATP7B	NM_000053.4(ATP7B):c.2810del:p.Val937fs	coding	Pathogenic/Likely_pathogenic
13	51949745	TA	T	A51949748T	ATP7B	NM_000053.4(ATP7B):c.2781del:p.Phe927fs	coding	Pathogenic
13	51950314	CT	C	T51950317C	ATP7B	NM_000053.4(ATP7B):c.2532del:p.Val845fs	coding	Pathogenic
13	51950336	T	TC	A51950342C	ATP7B	NM_000053.4(ATP7B):c.2510dup:p.Phe839fs	coding	Pathogenic
13	51950368	GC	A	G51950368A	ATP7B	NM_000053.4(ATP7B):c.2478_2479delinsT:p.Gln826fs	coding	Pathogenic
13	51957536	AC	A	C51957538A	ATP7B	NM_000053.4(ATP7B):c.2426del:p.Gly809fs	coding	Pathogenic
13	51958361	TG	T	G51958367C	ATP7B	NM_000053.4(ATP7B):c.2304del:p.Met769fs	coding	Pathogenic
13	51958361	T	TG	C51958368G	ATP7B	NM_000053.4(ATP7B):c.2304dup:p.Met769fs	coding	Pathogenic
13	51958431	CAG	C	G51958435A	ATP7B	NM_000053.4(ATP7B):c.2231_2232CT[1]:p.Leu745fs	coding	Pathogenic/Likely_pathogenic
13	51958438	TA	T	A51958441C	ATP7B	NM_000053.4(ATP7B):c.2227del:p.Tyr743fs	coding	Pathogenic/Likely_pathogenic
13	51958500	C	CA	G51958502A	ATP7B	NM_000053.4(ATP7B):c.2165dup:p.Arg723fs	coding	Pathogenic
13	51958508	TG	T	G51958509T	ATP7B	NM_000053.4(ATP7B):c.2157del:p.Ala718_Tyr719insTer	coding	Pathogenic
13	51958520	CG	C	G51958521T	ATP7B	NM_000053.4(ATP7B):c.2145del:p.Phe714_Tyr715insTer	coding	Pathogenic
13	51960253	CAGCATAT	C	C51960256A	ATP7B	NM_000053.4(ATP7B):c.2009_2015del:p.Ile669_Tyr670insTer	coding	Pathogenic
13	51960256	C	CATAT	G51960262T	ATP7B	NM_000053.4(ATP7B):c.2009_2010AT[4]:p.Met671fs	coding	Pathogenic
13	51964927	A	AG	C51964931G	ATP7B	NM_000053.4(ATP7B):c.1813dup:p.Leu605fs	coding	Pathogenic
13	51964958	CA	C	A51964959T	ATP7B	NM_000053.4(ATP7B):c.1782del:p.Thr593_Tyr594insTer	coding	Pathogenic/Likely_pathogenic
13	51964994	CTA	C	A51964996G	ATP7B	NM_000053.4(ATP7B):c.1745_1746del:p.Ile582fs	coding	Pathogenic/Likely_pathogenic
13	51965021	TCATCCCTGTGATCTGCAACACAGGATGGCAAGAATCC	T	T51965024C	ATP7B	NM_000053.4(ATP7B):c.1708-25_1719del	coding	Pathogenic
13	51965024	TC	T	C51965027T	ATP7B	NM_000053.4(ATP7B):c.1716del:p.Gly572_Met573insTer	coding	Pathogenic/Likely_pathogenic
13	51968431	C	CCA	G51968436C	ATP7B	NM_000053.4(ATP7B):c.1707+9TG[3]	noncoding	Benign
13	51968541	A	ATGACC	C51968548G	ATP7B	NM_000053.4(ATP7B):c.1605_1609dup:p.Ile537fs	coding	Pathogenic
13	51974060	ACC	A	C51974063T	ATP7B	NM_000053.4(ATP7B):c.1158_1159del:p.Val387fs	coding	Pathogenic
13	51974068	CAGTTGGG	C	T51974071A	ATP7B	NM_000053.4(ATP7B):c.1145_1151del:p.Ser382fs	coding	Pathogenic/Likely_pathogenic
13	51974146	GC	G	C51974147A	ATP7B	NM_000053.4(ATP7B):c.1073del:p.Cys358fs	coding	Pathogenic
13	51974263	TG	T	G51974265A	ATP7B	NM_000053.4(ATP7B):c.956del:p.Pro319fs	coding	Pathogenic
13	51974288	AGAGCCACTGGGCTG	A	A51974290T	ATP7B	NM_000053.4(ATP7B):c.918_931del:p.Ser307fs	coding	Pathogenic
13	51974374	GA	G	A51974375G	ATP7B	NM_000053.4(ATP7B):c.845del:p.Leu282fs	coding	Pathogenic
13	51974411	GACTTACA	G	C51974413T	ATP7B	NM_000053.4(ATP7B):c.802_808del:p.Cys268fs	coding	Pathogenic
13	51974415	T	TA	C51974417A	ATP7B	NM_000053.4(ATP7B):c.804dup:p.Lys269Ter	coding	Pathogenic
13	51974441	T	TG	A51974444G	ATP7B	NM_000053.4(ATP7B):c.778dup:p.Gln260fs	coding	Pathogenic/Likely_pathogenic
13	51974694	C	CT	G51974698T	ATP7B	NM_000053.4(ATP7B):c.525dup:p.Val176fs	coding	Pathogenic
13	51974694	CTT	C	T51974696G	ATP7B	NM_000053.4(ATP7B):c.524_525del:p.Lys175fs	coding	Pathogenic/Likely_pathogenic
13	51974830	T	TGC	C51974833G	ATP7B	NM_000053.4(ATP7B):c.388_389dup:p.Ala131fs	coding	Pathogenic/Likely_pathogenic
13	51974836	TC	T	C51974838T	ATP7B	NM_000053.4(ATP7B):c.383del:p.Gly128fs	coding	Pathogenic
13	51974863	C	CA	T51974865A	ATP7B	NM_000053.4(ATP7B):c.356dup:p.Met119fs	coding	Pathogenic
13	51975005	CAT	C	A51975006G	ATP7B	NM_000053.4(ATP7B):c.213_214del:p.Val73fs	coding	Pathogenic
13	51975108	C	CA	C51975113A	ATP7B	NM_000053.4(ATP7B):c.111dup:p.Ala38fs	coding	Pathogenic
13	52011455	TC	T	C52011456G	ATP7B	NM_001243182.1(ATP7B):c.-119del	noncoding	Benign
13	52011456	C	CCGGCG	G52011457C	ATP7B	NM_001243182.1(ATP7B):c.-120_-119insCGCCG	noncoding	Benign
13	52011758	TCCGCGGTCTCGGCCA	T	G52011761T	ATP7B	NM_000053.3(ATP7B):c.-436_-422del15	noncoding	Pathogenic/Likely_pathogenic
13	52011761	GCGGTCTCGGCCACCT	G	G52011764C	ATP7B	NM_000053.3(ATP7B):c.-441_-427del15	noncoding	Pathogenic
13	52024351	CTCTGTAGTGAAGAATCAAAA	C	C52024353A	ALG11	NM_001004127.3(ALG11):c.623_642del:p.Ser208fs	coding	Pathogenic
13	52024851	TAAAC	T	A52024853T	ALG11	NM_001004127.3(ALG11):c.1123_1126del:p.Asn375fs	coding	Pathogenic
13	59774253	TA	T	A59774264T	DIAPH3	NM_001042517.2(DIAPH3):c.3260-6del	noncoding	Benign
13	59810926	A	ATTAC	A59810927T	DIAPH3	NM_001042517.2(DIAPH3):c.3028-4_3028-3insGTAA	noncoding	Benign
13	59969958	CA	C	A59969962T	DIAPH3	NM_001042517.2(DIAPH3):c.2059del:p.Cys687fs	coding	Pathogenic
13	60163862	TCCGC	T	C60163864A	DIAPH3	NM_001042517.2(DIAPH3):c.-100_-97del	noncoding	Benign
13	69975810	CCA	C	C69975833A	KLHL1	NM_020866.3(KLHL1):c.498-32TG[11]	noncoding	Benign
13	72835296	T	TCAGATTGAAAACCAACCAAGAAATTGATCAGCTTCG	A72835327G	PIBF1	NM_006346.4(PIBF1):c.1181_1182insGCTTCGCAGATTGAAAACCAACCAAGAAATTGATCA:p.Arg385_Arg396dup	coding	Pathogenic
13	75287038	G	GA	T75287045A	TBC1D4	NM_014832.5(TBC1D4):c.3664-19dup	noncoding	Benign
13	76992207	G	GTGGATCCGGGC	T76992211A	CLN5	NM_006493.4(CLN5):c.112_113insATCCGGGCTGG:p.Val38fs	coding	Pathogenic
13	76992208	TG	T	G76992210T	CLN5	NM_006493.4(CLN5):c.112del:p.Val38fs	coding	Pathogenic
13	76995074	TC	T	C76995076G	CLN5	NM_006493.4(CLN5):c.187del:p.Arg63fs	coding	Pathogenic
13	76995997	AT	A	T76996000C	CLN5	NM_006493.4(CLN5):c.438del:p.His148fs	coding	Pathogenic/Likely_pathogenic
13	76996071	T	TTGATG	A76996077T	CLN5	NM_006493.4(CLN5):c.510_514dup:p.Asp172fs	coding	Pathogenic
13	76996083	A	AC	T76996085C	CLN5	NM_006493.4(CLN5):c.522dup:p.Trp175fs	coding	Pathogenic/Likely_pathogenic
13	76996085	TG	T	G76996087A	CLN5	NM_006493.4(CLN5):c.525del:p.His174_Trp175insTer	coding	Pathogenic/Likely_pathogenic
13	77000415	AGCTTTGTTCACTAGGTGACTTTGTTTTGTTTTTTTAAACTAGGAAACATGTTCAACCAAATGGCAAAGTGGGTGAAACAGGACAATGAAACAGGAATTTATTATGAGACATGGAATGTAAAAGCCAGCCCAGAAAAGGGGGCAGAGACATGGTTTGATTCCTACGACTGTTCCAAATTTGTGTTAAGGACCTTTAACAAGTTGGCTGAATTTGGAGCAGAGTTCAAGAACATAGAAACCAACTATACAAGAATATTTCTTTACAGTGGAGAACCTACTTATCTGGGAAATGAAACATCTGTTTTTGGGCCAACAGGAAACAAGACTCTTGGTTTAGCCATAAAAAGATTTTATTACCCCTTCAAACCACATTTGCCAACTAAAGAATTTCTGTTGAGTCTCTTGCAAATTTTTGATGCAGTGATTGTGCACAAACAGTTCTATTTGTTTTATAATTTTGAATATTGGTTTTTACCTATGAAATTCCCTTTTATTAAAATAACATATGAAGAAATCCCTTTACCTATCAGAAACAAAACACTCTCTGGTTTATAAAACACCTTAATTCTACTGCTCTTTTTTCTCCAATCACCAGCATCTG	A	G77000416T	CLN5	NM_006493.4(CLN5):c.566-42_*46del	noncoding	Pathogenic
13	77000457	GGAAACATGTTCAACCAAATGGCAAAGTGGGTGAAACAGGACAATGAAACAGGAATTTATTATGAGACATGGAATGTAAAAGCCAGCCCAGAAAAGGGGGCAGAGACATGGTTTGATTCCTACGACTGTTCCAAATTTGTGTTAAGGACCTTTAACAAGTTGGCTGAATTTGGAGCAGAGTTCAAGAACATAGAAACCAACTATACAAGAATATTTCTTTACAGTGGAGAACCTACTTATCTGGGAAATGAAACATCTGTTTTTGGGCCAACAGGAAACAAGACTCTTGGTTTAGCCATAAAAAGATTTTATTACCCCTTCAAACCACATTTGCCAACTAAAGAATTTCTGTTGAGTCTCTTGCAAATTTTTGATGCAGTGATTGTGCACAAACAGTTCTATTTGTTTTATAATTTTGAATATTGGTTTTTACCTATGAAATTCCCTTTTATTAAAATAACATATGAAGAAATCCCTTTACCTATCAGAAACAAAACACTCTCTGGTTTATAAAACACCTTAATTCTACTGCTCTTTTTTCTCCAATCACCAGCATCTGTTTTTCAGGGGGTGATTTTACTTTTGTGAATTCCTTAGCCTTTCTTCCTTGGTGCATAAAGTTAAAATGCACATCAGCAGAATTGCTGCATATTAACATCTCAGGACTCTTCTCTTGTAAAGAAGCTGAAATTCGTACTATATTGGCCAAAGTGAGCGAGTTAGGTGATCTTGGTTTCAATTTCCGAGCCTTTGTTAATATGGAGAATTATGGTTCATATCAGTTATGTAGGACCTTTGGACCCAGGGTCCTACAGATAGATATGGTGTGCCCAGATTTTAAAAATACCTTCAAAAATAAAAAATACATTCAGTGACATTTTCATGGTGGGAGCTCTTCTTTCTGATATGGCAGTTACACTTTTTCACTTAAGTGCTTTAGTTTAGACTAACTTTACAACTTCTATAACTTTTGGAACCAAGTTTAGTATAGTCTGATTACATTCCATTCACCTAACTTTAGACATTCGTTTAGACACCATAACTGGAGTGATTGTGCTTCTAGATGTGGCAAATCCAGTGTTAACACATATTTCTGGCTGAGATTTTGGAACTAGCTAGTAACTGGCTTGTGTTCTTTAAGCATACTAACATCACTAAATCTTAGGATTTAGGATTGCTGTAAAGATGTAAGTTGTGTATGTTTGGCAGGTCACATTGAATGGCAGTGATAATGATTAATCAAAGAACAAATGTCATCCTTGATCTTGCCTAATGTAGTTTATGTGCCAAACTTTCCAGGGTTTTGTAGTCACCTAGATTTTAAGCTGATAGCATAGTGCTTCAGCGGTTCTTCTAACCGGGGTATGCAGGAACATGGCTGCAGACACGTTTGGGTAAACAGGCACCTTCTGACTTCTTCATTGTTTCCTGTAGTTCTCCCTCTTCCCACAAAGCTGTCAGCGCAGTGGAAGAGGTTGCACTTCTCCGAGAGAGGACAGGTTTCTGTTAAGATCACCAAGTAGCTGTGCTTTAATTAGAGCCAGACAAGCTTTCAAGGTCCTTTAAGTATTTGATGATCAACTGAACACGTTTCTATTCAAGGAGAAAACACCATTCAGTAAGAAGATGGAGTAGATATCAGATAAAACAATTCACGTTTAATATGTAAATGTACCAATTATGTGATTCAGTTTCAACTTTCAAGTACTTCCTGAGAGGTTAGTACATTATTATTGAGCTCTCACAGAAAGCTTAATCATAGATATAATTAACCTGATCCAAATGAGTAAAGTGGACCTTAGAAAGGCTAAGTGATCTTTCTCTGGCTATCCAGCTAGTAGTAATGAAGTCAGGTCTTGAACCCCGGTTCTGCTGACTGAATTGGATGCACTATAGTACAGGCTTTTAGCACCGAAGTGTGGTCCTCAGACCAGTGCCTGCCAACCAGATGTTACTGGTCTGTGAGGAAATAAGTACAGATACTGACAGGAAGCTTTTATAAACAATTTATTGGAGTGTTTTTGTTTCTGTTGGGTCTAATTAAAAAAATTGGAGCTTGTA	G	G77000458T	CLN5	NM_006493.4(CLN5):c.566_*1548del:p.Gly189fs	coding	Pathogenic
13	77000666	AAT	A	A77000669T	CLN5	NM_006493.4(CLN5):c.775_776AT[1]:p.Phe260fs	coding	Pathogenic/Likely_pathogenic
13	77000694	TATCTGGGAAATGAAAC	T	G77000700T	CLN5	NM_006493.4(CLN5):c.808_823del:p.Gly270fs	coding	Pathogenic
13	77000735	C	CAA	G77000738A	CLN5	NM_006493.4(CLN5):c.844_845dup:p.Thr283fs	coding	Pathogenic
13	77000812	GTC	G	C77000816T	CLN5	NM_006493.4(CLN5):c.922_923CT[1]:p.Leu309fs	coding	Pathogenic
13	77000823	AT	A	T77000828G	CLN5	NM_006493.4(CLN5):c.936del:p.Phe312fs	coding	Pathogenic/Likely_pathogenic
13	77000844	CACAA	C	A77000848G	CLN5	NM_006493.4(CLN5):c.956_959del:p.Lys319fs	coding	Pathogenic
13	77000855	CTATT	C	A77000857G	CLN5	NM_006493.4(CLN5):c.965_968del:p.Tyr322fs	coding	Pathogenic
13	77000917	CAT	C	A77000920G	CLN5	NM_006493.4(CLN5):c.1026_1027AT[1]:p.Thr342_Tyr343insTer	coding	Pathogenic
13	77000954	ACT	A	C77000959G	CLN5	NM_006493.4(CLN5):c.1063_1064CT[2]:p.Ser356fs	coding	Pathogenic
13	77007547	TA	T	A77007556T	FBXL3	NM_012158.3(FBXL3):c.884del:p.Leu295fs	coding	Pathogenic
13	77176630	TA	T	A77176642T	MYCBP2	NM_015057.5(MYCBP2):c.5341-3del	noncoding	Benign
13	77217964	TA	T	A77217977G	MYCBP2	NM_015057.5(MYCBP2):c.2940-8del	noncoding	Benign
13	77698132	T	TGG	C77698135G	SLAIN1	NM_001242868.2(SLAIN1):c.220_221dup:p.Leu75fs	coding	Benign
13	77698141	G	GC	T77698144C	SLAIN1	NM_001242868.2(SLAIN1):c.230dup:p.Leu78fs	coding	Benign
13	77903569	AC	A	C77903570A	EDNRB	NM_001122659.3(EDNRB):c.521del:p.Cys174fs	coding	Pathogenic
13	83880243	AG	A	G83880245T	SLITRK1	NM_052910.2(SLITRK1):c.1264del:p.Leu422fs	coding	Pathogenic
13	94027794	GC	G	C94027795T	GPC6	NM_005708.5(GPC6):c.778del:p.Leu260fs	coding	Pathogenic
13	94403541	G	GT	C94403552T	GPC6	NM_005708.5(GPC6):c.*334dup	noncoding	Benign
13	94590894	TTC	T	C94590898G	TGDS	NM_014305.4(TGDS):c.268_269GA[1]:p.Lys91fs	coding	Pathogenic
13	96987625	GA	G	A96987626G	OXGR1	NM_080818.4(OXGR1):c.134del:p.Leu45fs	coding	Benign
13	99970413	TGGCGGCGGCGGCGGCGGCGGC	T	G99970429A	ZIC5	NM_033132.4(ZIC5):c.1227_1229GCC[5]:p.Pro418_Pro424del	coding	Benign
13	99970413	TGGCGGCGGCGGCGGCGGC	T	G99970432A	ZIC5	NM_033132.4(ZIC5):c.1227_1229GCC[6]:p.Pro419_Pro424del	coding	Benign
13	99970413	TGGC	T	G99970447A	ZIC5	NM_033132.4(ZIC5):c.1227_1229GCC[11]:p.Pro424del	coding	Benign
13	99970413	T	TGGC	A99970450G	ZIC5	NM_033132.4(ZIC5):c.1227_1229GCC[13]:p.Pro424dup	coding	Benign
13	99982294	TCACGTC	CA	T99982294C	ZIC2	NM_007129.5(ZIC2):c.230_236delinsCA:p.Phe77fs	coding	Pathogenic
13	99982383	TC	T	C99982385T	ZIC2	NM_007129.5(ZIC2):c.321del:p.Tyr108fs	coding	Pathogenic
13	99982455	CCGGGCGG	C	G99982461A	ZIC2	NM_007129.5(ZIC2):c.397_403del:p.Gly133fs	coding	Pathogenic
13	99982557	C	CA	G99982559A	ZIC2	NM_007129.5(ZIC2):c.494dup:p.His166fs	coding	Pathogenic
13	99982753	C	CCCA	C99982783A	ZIC2	NM_007129.5(ZIC2):c.692_694ACC[10]:p.His239dup	coding	Benign/Likely_benign
13	99982754	C	CCCA	A99982756C	ZIC2	NM_007129.5(ZIC2):c.691_692insCAC:p.His231_His232insPro	coding	Benign
13	99982788	GCCTT	G	C99982789T	ZIC2	NM_007129.5(ZIC2):c.725_728del:p.Ala242fs	coding	Pathogenic
13	99982999	AG	A	G99983000C	ZIC2	NM_007129.5(ZIC2):c.936del:p.Lys312fs	coding	Pathogenic
13	99983103	TCCGAGAA	T	G99983106T	ZIC2	NM_007129.5(ZIC2):c.1042_1048del:p.Glu348fs	coding	Pathogenic
13	99984951	AAGCCGTTCCAGTGTGAGTTTGAGGGCTGCGACCGGCGCTTCGCCAAC	A	C99984955A	ZIC2	NM_007129.5(ZIC2):c.1085_1131del:p.Pro362fs	coding	Pathogenic
13	99984960	CAG	C	A99984961T	ZIC2	NM_007129.5(ZIC2):c.1091_1092del:p.Gln364fs	coding	Pathogenic
13	99984961	AGT	A	T99984965A	ZIC2	NM_007129.5(ZIC2):c.1093_1094TG[1]:p.Cys365_Glu366delinsTer	coding	Pathogenic
13	99984965	TGA	T	A99984967T	ZIC2	NM_007129.5(ZIC2):c.1097_1098del:p.Glu366fs	coding	Pathogenic
13	99984966	G	GA	G99984968A	ZIC2	NM_007129.5(ZIC2):c.1097dup:p.Phe367fs	coding	Pathogenic
13	99985081	AC	A	C99985085A	ZIC2	NM_007129.5(ZIC2):c.1215del:p.Ser406fs	coding	Pathogenic
13	99985396	CG	C	G99985400C	ZIC2	NM_007129.5(ZIC2):c.1317del:p.Leu440fs	coding	Pathogenic
13	99985400	G	GC	T99985402C	ZIC2	NM_007129.5(ZIC2):c.1318dup:p.Leu440fs	coding	Pathogenic
13	99985448	A	AGCGGCGGCGGCAGCGGCGGCGGCGGCTGCG	C99985490A	ZIC2	NM_007129.5(ZIC2):c.1377_1406dup:p.Ala461_Ala470dup	coding	Pathogenic
13	100089139	G	GGGACAGCACCGCTGGTCGCTGCC	G100089167A	PCCA	NM_000282.4(PCCA):c.24_46dup:p.Arg16fs	coding	Pathogenic
13	100102908	G	ATT	G100102908A	PCCA	NM_000282.4(PCCA):c.131delinsATT:p.Cys44fs	coding	Pathogenic
13	100102910	TTA	T	T100102911A	PCCA	NM_000282.4(PCCA):c.134_135del:p.Leu45fs	coding	Pathogenic
13	100102919	TC	T	C100102922G	PCCA	NM_000282.4(PCCA):c.145del:p.Arg49fs	coding	Pathogenic
13	100102955	GA	G	A100102960G	PCCA	NM_000282.3(PCCA):c.183delA	coding	Pathogenic
13	100111820	ATG	A	G100111824T	PCCA	NM_000282.4(PCCA):c.184-17_184-16del	noncoding	Benign
13	100111929	ATTAT	A	T100111935A	PCCA	NM_000282.4(PCCA):c.231+47_231+50del	noncoding	Benign
13	100154982	CA	C	A100154983T	PCCA	NM_000282.4(PCCA):c.305del:p.His102fs	coding	Pathogenic
13	100155008	CTG	C	G100155012T	PCCA	NM_000282.4(PCCA):c.332_333GT[1]:p.Val112fs	coding	Pathogenic
13	100157314	GA	G	A100157318C	PCCA	NM_000282.4(PCCA):c.446del:p.Asn149fs	coding	Pathogenic
13	100257611	C	CA	G100257614A	PCCA	NM_000282.4(PCCA):c.656dup:p.Ala220fs	coding	Pathogenic
13	100262732	TG	T	G100262734T	PCCA	NM_000282.4(PCCA):c.722del:p.Gly241fs	coding	Pathogenic/Likely_pathogenic
13	100262786	ACTAAT	A	C100262787A	PCCA	NM_000282.4(PCCA):c.775_779del:p.Leu259fs	coding	Pathogenic/Likely_pathogenic
13	100268711	AT	A	T100268712G	PCCA	NM_000282.4(PCCA):c.843del:p.Asn281fs	coding	Pathogenic/Likely_pathogenic
13	100268730	AAG	A	A100268735T	PCCA	NM_000282.4(PCCA):c.862_863AG[2]:p.Glu289fs	coding	Pathogenic
13	100273197	A	AT	G100273205T	PCCA	NM_000282.4(PCCA):c.923dup:p.Leu308fs	coding	Pathogenic
13	100273303	C	CT	A100273305T	PCCA	NM_000282.4(PCCA):c.1023dup:p.Lys342Ter	coding	Pathogenic
13	100301581	TTGAA	T	A100301584T	PCCA	NM_000282.4(PCCA):c.1190_1193del:p.Glu397fs	coding	Pathogenic
13	100307234	A	AT	A100307238T	PCCA	NM_000282.4(PCCA):c.1330dup:p.Tyr444fs	coding	Pathogenic
13	100307261	GTTAGT	G	G100307265A	PCCA	NM_000282.4(PCCA):c.1353+5_1353+9del	noncoding	Pathogenic
13	100340177	GAGAAG	TATTGCCAATAACC	G100340177T	PCCA	NM_000282.4(PCCA):c.1561_1566delinsTATTGCCAATAACC:p.Glu521_Lys522delinsTyrCysGlnTer	coding	Pathogenic
13	100449305	GGTAA	G	A100449309T	PCCA	NM_000282.4(PCCA):c.1899+4_1899+7del	coding	Pathogenic/Likely_pathogenic
13	100515445	AC	A	C100515447A	PCCA	NM_000282.4(PCCA):c.1920del:p.Arg641fs	coding	Pathogenic
13	100515517	T	TC	G100515522C	PCCA	NM_000282.4(PCCA):c.1994dup:p.Met666fs	coding	Pathogenic
13	101061969	GCT	G	C101061972G	NALCN	NM_052867.4(NALCN):c.4750_4751AG[1]:p.Arg1584fs	coding	Pathogenic
13	101074692	C	CAG	C101074714G	NALCN	NM_052867.4(NALCN):c.3955-50CT[11]	noncoding	Benign
13	101103172	C	CA	T101103180A	NALCN	NM_052867.4(NALCN):c.3056dup:p.Leu1019fs	coding	Pathogenic
13	101104288	GACTT	G	T101104291A	NALCN	NM_052867.4(NALCN):c.2889+3_2889+6del	noncoding	Pathogenic
13	101104425	AT	A	T101104426C	NALCN	NM_052867.4(NALCN):c.2758del:p.Ile920fs	coding	Pathogenic
13	101104900	TG	T	G101104901A	NALCN	NM_052867.4(NALCN):c.2629del:p.Gln877fs	coding	Pathogenic
13	101107718	C	CT	C101107726T	NALCN	NM_052867.4(NALCN):c.2435dup:p.Glu813fs	coding	Pathogenic
13	101229529	TA	T	A101229530C	NALCN	NM_052867.4(NALCN):c.1489del:p.Tyr497fs	coding	Pathogenic
13	101283998	C	CA	G101284000A	NALCN	NM_052867.4(NALCN):c.1068dup:p.Gly357fs	coding	Pathogenic
13	101376806	TC	T	C101376808A	NALCN	NM_052867.4(NALCN):c.537del:p.Ile178_Trp179insTer	coding	Pathogenic
13	101721440	C	CTTTA	T101721448A	FGF14	NM_175929.2(FGF14):c.*1387_*1390dup	noncoding	Benign
13	101721858	C	CT	C101721872T	FGF14	NM_175929.2(FGF14):c.*972dup	noncoding	Benign
13	101722975	TG	T	G101722978A	FGF14	NM_175929.2(FGF14):c.623-9del	noncoding	Benign
13	101726731	CT	C	T101726732G	FGF14	NM_004115.3(FGF14):c.487del:p.Arg163fs	coding	Pathogenic
13	102646333	T	TA	G102646334A	TPP2	NM_001330588.2(TPP2):c.2433_2434insA:p.Val812fs	coding	Pathogenic
13	102649119	GC	G	C102649121A	TPP2	NM_001330588.2(TPP2):c.2843del:p.Pro948fs	coding	Pathogenic
13	102853836	AAAGAC	A	A102853840C	ERCC5	NM_000123.3(ERCC5):c.348_352del:p.Arg116fs	coding	Pathogenic
13	102861670	G	GGA	T102861676A	ERCC5	NM_000123.4(ERCC5):c.838_839AG[3]:p.Val281fs	coding	Pathogenic
13	102862067	GTC	G	C102862071T	ERCC5	NM_000123.4(ERCC5):c.922_923del:p.Leu308fs	coding	Pathogenic
13	102862262	GAGGA	G	G102862264C	ERCC5	NM_000123.3(ERCC5):c.1115_1118del:p.Arg372fs	coding	Pathogenic
13	102862504	ACT	A	C102862507G	ERCC5	NM_000123.4(ERCC5):c.1358_1359del:p.Ser453fs	coding	Pathogenic
13	102862639	GA	G	A102862643G	ERCC5	NM_000123.3(ERCC5):c.1494del:p.Asp499fs	coding	Pathogenic
13	102866720	CTTCCGGAACCATCACTGATGACAGTGATATCTGGCTG	C	C102866723T	ERCC5;BIVM-ERCC5	NM_000123.4(ERCC5):c.2411_2447del:p.Ser804fs	coding	Pathogenic
13	102872261	GA	G	A102872270T	ERCC5	NM_000123.3(ERCC5):c.2751del:p.Lys917fs	coding	Pathogenic
13	102872283	C	CA	C102872286A	ERCC5	NM_000123.3(ERCC5):c.2766dup:p.Leu923fs	coding	Pathogenic
13	103051435	G	GA	G103051445A	SLC10A2	NM_000452.2(SLC10A2):c.586-4dup	noncoding	Benign/Likely_benign
13	103052619	CTT	AAG	C103052619A	SLC10A2	NM_000452.3(SLC10A2):c.584_585+1inv	coding	Pathogenic
13	108208529	AG	A	G108208530C	LIG4	NM_002312.3(LIG4):c.*3del	noncoding	Benign
13	108208963	G	GT	A108208965T	LIG4	NM_206937.2(LIG4):c.2305dup:p.Thr769fs	coding	Pathogenic
13	108209364	CT	C	T108209366C	LIG4	NM_206937.2(LIG4):c.1904del:p.Lys635fs	coding	Pathogenic
13	108209513	CTCTTA	C	A108209518T	LIG4	NM_206937.2(LIG4):c.1751_1755del:p.Ile584fs	coding	Pathogenic
13	108209625	GTA	G	T108209628C	LIG4	NM_206937.2(LIG4):c.1640_1641TA[1]:p.Tyr548fs	coding	Pathogenic
13	108209755	CGA	C	A108209763T	LIG4	NM_206937.2(LIG4):c.1506_1507TC[3]:p.Arg505fs	coding	Pathogenic
13	108209845	G	GGAACATTAAATATTTAGTTGAATCTT	A108209846G	LIG4	NM_206937.2(LIG4):c.1423_1424insAAGATTCAACTAAATATTTAATGTTC:p.Ser475Ter	coding	Pathogenic
13	108209968	GGTT	G	G108209972T	LIG4	NM_206937.2(LIG4):c.1295_1297AAC[1]:p.Gln433del	coding	Pathogenic
13	108209993	CTCTTT	C	C108209995A	LIG4	NM_206937.2(LIG4):c.1271_1275del:p.Lys424fs	coding	Pathogenic
13	108210468	ACT	A	C108210471G	LIG4	NM_206937.2(LIG4):c.797_798AG[1]:p.Ser267fs	coding	Pathogenic
13	108210655	GA	G	A108210659G	LIG4	NM_206937.2(LIG4):c.613del:p.Ser205fs	coding	Pathogenic
13	110174532	G	GA	C110174540A	COL4A1	NM_001845.6(COL4A1):c.3326-13dup	noncoding	Benign/Likely_benign
13	110183002	CG	C	G110183008C	COL4A1	NM_001845.6(COL4A1):c.2085del:p.Gly696fs	coding	Pathogenic
13	110187292	CC	AA	C110187292A	COL4A1	NM_001845.6(COL4A1):c.1573_1574delinsTT:p.Gly525Leu	coding	Pathogenic
13	110192240	CA	C	A110192241G	COL4A1	NM_001845.6(COL4A1):c.1509del:p.Gly504fs	coding	Pathogenic
13	110195050	C	CT	G110195052T	COL4A1	NM_001845.6(COL4A1):c.1353dup:p.Gly452fs	coding	Pathogenic
13	110205388	C	CG	T110205392G	COL4A1	NM_001845.6(COL4A1):c.921dup:p.Gly308fs	coding	Pathogenic
13	110209387	T	TGTG	T110209388G	COL4A1	NM_001845.6(COL4A1):c.651+4_651+5insCAC	noncoding	Benign/Likely_benign
13	110211627	CAAAAT	C	A110211638G	COL4A1	NM_001845.6(COL4A1):c.468+5ATTTT[2]	noncoding	Benign
13	110512281	TAA	T	A110512292G	COL4A2	NM_001846.4(COL4A2):c.*101_*102del	noncoding	Benign
13	110615644	CG	C	G110615645A	NAXD	NM_018210.4(NAXD):c.-30del	coding	Pathogenic
13	110622219	TAGAA	T	A110622223G	NAXD	NM_001242883.1(NAXD):c.57-5216_57-5213del	coding	Pathogenic
13	110638486	C	CTT	G110638487T	NAXD	NM_001242882.1(NAXD):c.948_949insTT:p.Ala317fs	coding	Pathogenic
13	110644440	A	AT	G110644442T	CARS2	NM_024537.4(CARS2):c.1360dup:p.Ile454fs	coding	Pathogenic
13	110683054	GCTC	G	C110683055T	CARS2	NM_024537.4(CARS2):c.649_651del:p.Glu217del	coding	Pathogenic
13	110683135	CTG	C	G110683137T	CARS2	NM_024537.4(CARS2):c.572-3_572-2del	noncoding	Benign
13	110715768	T	TC	G110715772C	ING1	NM_198219.3(ING1):c.136+1486dup	coding	Benign
13	113065091	T	TG	T113065098G	MCF2L	NM_001112732.3(MCF2L):c.756+12dup	noncoding	Benign
13	113117593	CTGGG	C	G113117599A	F7	NM_000131.4(F7):c.805+3_805+6del	coding	Pathogenic/Likely_pathogenic
13	113118455	GGCGGGTGGCGCAGGTCA	G	G113118456T	F7	NM_019616.4(F7):c.783_799del:p.Arg262fs	coding	Pathogenic
13	113118994	GC	G	C113118998A	F7	NM_019616.4(F7):c.1325del:p.Pro442fs	coding	Pathogenic/Likely_pathogenic
13	113147443	TC	T	C113147445T	F10	NM_000504.4(F10):c.814del:p.Ile271_Leu272insTer	coding	Pathogenic
13	114018809	TAGTC	T	T114018812A	RASA3	NM_007368.4(RASA3):c.892_895del:p.Asp298fs	coding	Pathogenic
13	114324381	CCT	C	C114324384G	CHAMP1	NM_032436.4(CHAMP1):c.540_541CT[1]:p.Ser181fs	coding	Pathogenic
13	114324473	GC	G	C114324477T	CHAMP1	NM_032436.4(CHAMP1):c.635del:p.Pro212fs	coding	Pathogenic
13	114324502	T	TA	C114324504A	CHAMP1	NM_032436.4(CHAMP1):c.661dup:p.Thr221fs	coding	Pathogenic/Likely_pathogenic
13	114324572	T	GC	T114324572G	CHAMP1	NM_032436.4(CHAMP1):c.730delinsGC:p.Ser244fs	coding	Pathogenic
13	114324884	TG	T	G114324886A	CHAMP1	NM_032436.4(CHAMP1):c.1044del:p.Pro347_Trp348insTer	coding	Pathogenic
13	114325056	CTCCTGAAC	A	C114325056A	CHAMP1	NM_032436.4(CHAMP1):c.1214_1222delinsA:p.Ser405_His408delinsTer	coding	Pathogenic
13	114325395	TTC	T	C114325401A	CHAMP1	NM_032436.4(CHAMP1):c.1559_1560del:p.Ser520fs	coding	Pathogenic
13	114325689	C	CA	G114325693A	CHAMP1	NM_032436.4(CHAMP1):c.1850dup:p.Lys618fs	coding	Pathogenic
13	114325706	GAC	G	C114325708A	CHAMP1	NM_032436.4(CHAMP1):c.1866_1867del:p.Asp622fs	coding	Pathogenic
13	114325853	ATGGAC	A	T114325854A	CHAMP1	NM_032436.4(CHAMP1):c.2012_2016del:p.Met671fs	coding	Pathogenic
13	114325920	TC	T	C114325921T	CHAMP1	NM_032436.4(CHAMP1):c.2079del:p.Ser694fs	coding	Pathogenic
14	21302507	CT	C	T21302508A	RPGRIP1	NM_020366.3(RPGRIP1):c.511del:p.Tyr171fs	coding	Pathogenic
14	21302514	GC	G	C21302518T	RPGRIP1	NC_000014.9:g.21302518del	coding	Pathogenic
14	21303418	C	CA	T21303420A	RPGRIP1	NM_020366.3(RPGRIP1):c.676dup:p.Ile226fs	coding	Pathogenic
14	21307703	CAGAATAATTTAGCGCCTTTCTCTGCAGAGCTTCCATTAAAGAGAAGGTAGAGCTGATTCGACTTAAGA	C	A21307706C	RPGRIP1	NM_020366.3(RPGRIP1):c.801-25_843del	noncoding	Pathogenic
14	21307823	CAG	C	G21307825A	RPGRIP1	NM_020366.3(RPGRIP1):c.895_896del:p.Glu299fs	coding	Pathogenic
14	21310558	AAAT	A	A21310568T	RPGRIP1	NM_020366.3(RPGRIP1):c.907-25AAT[3]	noncoding	Benign
14	21312457	GA	G	A21312462G	RPGRIP1	NM_020366.3(RPGRIP1):c.1107del:p.Glu370fs	coding	Pathogenic
14	21312467	GA	G	A21312471T	RPGRIP1	NM_020366.3(RPGRIP1):c.1116del:p.Lys372fs	coding	Pathogenic
14	21312487	T	TA	T21312489A	RPGRIP1	NM_020366.4(RPGRIP1):c.1133dup:p.Tyr378Ter	coding	Pathogenic
14	21325251	CG	C	G21325255T	RPGRIP1	NM_020366.4(RPGRIP1):c.2239del:p.Val747fs	coding	Pathogenic
14	21325927	C	CCATA	T21325932C	RPGRIP1	NM_020366.3(RPGRIP1):c.2465_2468dup:p.Ala824fs	coding	Pathogenic/Likely_pathogenic
14	21327626	A	AT	A21327631T	RPGRIP1	NM_020366.3(RPGRIP1):c.2718dup:p.Asn907Ter	coding	Pathogenic/Likely_pathogenic
14	21327671	A	AT	A21327672T	RPGRIP1	NM_020366.3(RPGRIP1):c.2759_2760insT:p.Gln920fs	coding	Pathogenic
14	21327690	GT	G	T21327693C	RPGRIP1	NM_001377523.1(RPGRIP1):c.759del:p.Tyr255fs	coding	Pathogenic
14	21327784	GA	G	A21327788G	RPGRIP1	NM_020366.3(RPGRIP1):c.2876del:p.Lys959fs	coding	Pathogenic/Likely_pathogenic
14	21327800	CT	C	T21327802C	RPGRIP1	NM_020366.3(RPGRIP1):c.2890del:p.Ser964fs	coding	Pathogenic/Likely_pathogenic
14	21328499	GA	G	A21328502G	RPGRIP1	NM_020366.3(RPGRIP1):c.2974del:p.Arg992fs	coding	Pathogenic
14	21334601	GCAGA	G	G21334604A	RPGRIP1	NM_020366.4(RPGRIP1):c.3239-1_3241del	noncoding	Pathogenic
14	21343122	GT	G	T21343123A	RPGRIP1	NM_020366.4(RPGRIP1):c.3427del:p.Tyr1143fs	coding	Pathogenic
14	21343163	C	CCT	A21343164C	RPGRIP1	NM_020366.3(RPGRIP1):c.3467_3468insCT:p.Thr1156_Glu1157insTer	coding	Pathogenic
14	21343181	T	TA	G21343184A	RPGRIP1	NM_001377523.1(RPGRIP1):c.1465dup:p.Arg489fs	coding	Pathogenic
14	21345139	CAAGGCCG	C	C21345145G	RPGRIP1	NM_020366.3(RPGRIP1):c.3565_3571del:p.Arg1189fs	coding	Pathogenic
14	21348166	TTTTAG	T	G21348171A	RPGRIP1	NM_020366.3(RPGRIP1):c.3618-1_3621del	noncoding	Pathogenic/Likely_pathogenic
14	21348183	C	CG	A21348184G	RPGRIP1	NM_020366.4(RPGRIP1):c.3629_3630insG:p.Val1211fs	coding	Pathogenic
14	21348210	AAAAG	A	A21348217T	RPGRIP1	NC_000014.9:g.21348213_21348216AGAA[1]	coding	Pathogenic
14	21391513	T	TCTCCA	G21391519C	CHD8	NM_001170629.2(CHD8):c.7010_7014dup:p.Met2339fs	coding	Pathogenic
14	21391841	G	GC	T21391843C	CHD8	NM_001170629.2(CHD8):c.6876dup:p.Leu2293fs	coding	Pathogenic
14	21394187	C	CG	T21394194G	CHD8	NM_001170629.2(CHD8):c.5607dup:p.Asp1870fs	coding	Pathogenic
14	21395035	T	TA	C21395037A	CHD8	NM_001170629.2(CHD8):c.5266dup:p.Tyr1756fs	coding	Pathogenic
14	21400009	CTGCT	C	C21400012G	CHD8	NM_001170629.2(CHD8):c.4785_4788del:p.Ala1596fs	coding	Pathogenic
14	21400514	C	CT	A21400515T	CHD8	NM_001170629.2(CHD8):c.4468_4469insA:p.Cys1490Ter	coding	Pathogenic
14	21401071	TCTATGAAGA	T	C21401072G	CHD8	NM_001170629.2(CHD8):c.4174-9_4174-1del	coding	Pathogenic
14	21401460	GT	G	T21401462G	CHD8	NM_001170629.2(CHD8):c.4115del:p.Asn1372fs	coding	Pathogenic
14	21403092	TC	T	C21403094A	CHD8	NM_001170629.2(CHD8):c.3638del:p.Gly1213fs	coding	Pathogenic
14	21403107	AC	A	C21403108A	CHD8	NM_001170629.2(CHD8):c.3623del:p.Cys1208fs	coding	Pathogenic
14	21403648	A	AT	C21403655T	CHD8	NM_001170629.2(CHD8):c.3322dup:p.Ile1108fs	coding	Pathogenic
14	21406927	TAACAC	T	A21406931G	CHD8	NM_001170629.2(CHD8):c.2831_2835del:p.Cys944fs	coding	Pathogenic
14	21406951	GA	G	A21406953G	CHD8	NM_001170629.2(CHD8):c.2811del:p.Arg938fs	coding	Pathogenic
14	21408459	GG	A	G21408459A	CHD8	NM_001170629.2(CHD8):c.2582_2583delinsT:p.Pro861fs	coding	Pathogenic
14	21408476	CA	C	A21408477T	CHD8	NM_001170629.2(CHD8):c.2565del:p.Asn855fs	coding	Pathogenic
14	21409869	GT	G	T21409870G	CHD8	NM_001170629.2(CHD8):c.2345del:p.His782fs	coding	Pathogenic
14	21409969	AC	A	C21409971A	CHD8	NM_001170629.2(CHD8):c.2245del:p.Leu748_Val749insTer	coding	Pathogenic
14	21427903	CA	C	A21427904G	CHD8	NM_001170629.2(CHD8):c.1566del:p.Gly523fs	coding	Pathogenic
14	21431177	GCTGA	G	C21431182G	CHD8	NM_020920.4(CHD8):c.6+630_6+633del	coding	Pathogenic
14	21431296	TG	T	G21431297T	CHD8	NM_020920.4(CHD8):c.6+514del	coding	Pathogenic
14	21431307	A	AT	G21431309T	CHD8	NM_001170629.2(CHD8):c.336dup:p.Ser113fs	coding	Pathogenic
14	21431510	GAGTCCAGAGAGCTTGGC	G	G21431517A	CHD8	NM_001170629.2(CHD8):c.117_133del:p.Pro40fs	coding	Pathogenic
14	22768050	T	TGCAGAGCA	A22768060C	OXA1L	NM_005015.5(OXA1L):c.320_327dup:p.Ser110fs	coding	Pathogenic
14	22771504	T	TAGC	A22771518G	SLC7A7	NM_005015.5(OXA1L):c.1256_1258GCA[5]:p.Ser422dup	coding	Benign
14	22773966	GT	G	T22773968C	SLC7A7	NM_001126106.2(SLC7A7):c.1395del:p.Glu465fs	coding	Pathogenic
14	22773974	AC	A	C22773975T	SLC7A7	NM_001126106.2(SLC7A7):c.1387del:p.Val463fs	coding	Pathogenic
14	22773977	C	CTGAT	G22773982T	SLC7A7	NM_003982.4(SLC7A7):c.1381_1384dup:p.Arg462fs	coding	Pathogenic/Likely_pathogenic
14	22773977	CTG	C	T22773978A	SLC7A7	NM_003982.4(SLC7A7):c.1383_1384del:p.Ile461fs	coding	Pathogenic
14	22774354	C	CGTAA	T22774355G	SLC7A7	NM_003982.4(SLC7A7):c.1244_1245insTTAC:p.Lys415fs	coding	Pathogenic
14	22774410	TAGAA	T	A22774413C	SLC7A7	NM_001126105.2(SLC7A7):c.1185_1188del:p.Ser396fs	coding	Pathogenic
14	22775245	GGTGTACCATTC	G	G22775246C	SLC7A7	NM_001126105.2(SLC7A7):c.1095+188_1095+198del	noncoding	Benign
14	22775441	TA	T	A22775442C	SLC7A7	NM_001126105.2(SLC7A7):c.1095+2del	noncoding	Pathogenic
14	22775530	CAAAG	C	G22775534A	SLC7A7	NM_001126105.2(SLC7A7):c.1005_1008del:p.Phe335Leufs	coding	Pathogenic/Likely_pathogenic
14	22775936	TCT	AATGG	T22775936A	SLC7A7	NM_001126106.2(SLC7A7):c.895-2_895delinsCCATT	coding	Pathogenic
14	22780034	TA	T	A22780036T	SLC7A7	NM_003982.4(SLC7A7):c.516del:p.Asn173fs	coding	Pathogenic
14	22812908	G	GCAGCAGC	G22812922C	SLC7A7	NM_003982.4(SLC7A7):c.484_490dup:p.Ala164fs	coding	Pathogenic
14	23042460	GC	G	C23042462T	PSMB11	NM_001099780.2(PSMB11):c.237del:p.Ser80fs	coding	Benign
14	23321471	T	TGGCGGC	A23321493G	PABPN1	NM_001199864.2(BCL2L2-PABPN1):c.433-709GGC[9]	coding	Pathogenic
14	23321471	T	TGGCGGCGGC	A23321493G	PABPN1	NM_004643.3(PABPN1):c.3GGC[10]:p.Ala9_Ala11dup	coding	Pathogenic/Likely_pathogenic
14	23321471	T	TGGCGGCGGCGGC	A23321493G	PABPN1	NM_004643.3(PABPN1):c.3GGC[11]:p.Ala11_Gly12insAlaAlaAlaAla	coding	Pathogenic
14	23321481	G	GGCGGCGGCGGCA	A23321496G	PABPN1	NM_001199864.2(BCL2L2-PABPN1):c.433-697_433-686dup	coding	Pathogenic
14	23321484	G	GGCGGCGGCAGCAGCA	G23321504C	PABPN1;BCL2L2-PABPN1	NM_001199864.2(BCL2L2-PABPN1):c.433-692_433-678dup	coding	Pathogenic
14	23321490	G	GGCGGCGGCA	A23321493G	PABPN1;BCL2L2-PABPN1	NM_001199864.2(BCL2L2-PABPN1):c.433-689_433-688insGGCGGCAGC	coding	Pathogenic
14	23383336	T	TG	A23383340G	MYH6	NM_002471.4(MYH6):c.5566-19dup	noncoding	Benign
14	23389057	T	TG	A23389062G	MYH6	NM_002471.3(MYH6):c.3979-6dup	noncoding	Benign
14	23389061	GA	G	A23389062G	MYH6	NM_002471.3(MYH6):c.3979-7del	noncoding	Benign/Likely_benign
14	23389061	G	GA	G23389063A	MYH6	NM_002471.4(MYH6):c.3979-7dup	noncoding	Benign
14	23389062	AGG	A	G23389071C	MYH6	NM_002471.3(MYH6):c.3979-9_3979-8del	noncoding	Benign
14	23392601	CA	TG	C23392601T	MYH6	NM_002471.3(MYH6):c.3302_3303inv:p.Val1101Ala	coding	Benign/Likely_benign
14	23392969	T	TG	T23392973G	MYH6	NM_002471.3(MYH6):c.3193dup:p.Gln1065fs	coding	Pathogenic
14	23394283	TGAAGGCCC	T	G23394287T	MYH6	NM_002471.3(MYH6):c.2462_2469del:p.Arg821fs	coding	Pathogenic
14	23415173	TGCA	T	C23415175G	MYH7	NM_000257.4(MYH7):c.5378_5380del:p.Leu1793del	coding	Pathogenic
14	23415475	A	ATCT	G23415488T	MYH7	NM_000257.4(MYH7):c.5177_5179AGA[5]:p.Lys1729dup	coding	Pathogenic
14	23415475	ATCT	A	T23415485G	MYH7	NM_000257.4(MYH7):c.5177_5179AGA[3]:p.Lys1729del	coding	Pathogenic
14	23416104	ATCT	A	T23416113A	MYH7	NM_000257.4(MYH7):c.4844_4846AGA[2]:p.Lys1617del	coding	Pathogenic
14	23416987	TCTC	T	C23416991T	MYH7	NM_000257.3(MYH7):c.4522_4524delGAG:p.Glu1508del	coding	Pathogenic
14	23420236	T	TG	T23420239G	MYH7	NM_000257.4(MYH7):c.3337-4dup	noncoding	Benign
14	23425338	CT	C	T23425339G	MYH7	NM_000257.4(MYH7):c.2366del:p.Gln789fs	coding	Pathogenic
14	23426792	CA	C	A23426793T	MYH7	NM_000257.4(MYH7):c.2028del:p.Asn676fs	coding	Pathogenic
14	23428711	TG	T	G23428712T	MYH7	NM_000257.4(MYH7):c.1408-42del	noncoding	Benign/Likely_benign
14	24081505	G	GCCCGCAGC	T24081507C	NRL	NM_001354768.3(NRL):c.444_445insGCTGCGGG:p.Leu149fs	coding	Pathogenic
14	24082625	A	AG	C24082627G	NRL	NM_006177.5(NRL):c.223dup:p.Leu75fs	coding	Pathogenic
14	24082744	A	AG	C24082751G	NRL	NM_006177.5(NRL):c.104dup:p.Thr36fs	coding	Pathogenic
14	24103500	T	TC	A24103508C	PCK2	NM_004563.4(PCK2):c.1469-3dup	noncoding	Benign
14	24240301	A	AG	T24240307G	TINF2	NM_001099274.3(TINF2):c.1090dup:p.Leu364fs	coding	Pathogenic
14	24240587	TG	T	G24240590T	TINF2	NM_001099274.3(TINF2):c.892del:p.Gln298fs	coding	Pathogenic
14	24240614	GG	CT	G24240614C	TINF2	NM_001099274.3(TINF2):c.865_866delinsAG:p.Pro289Ser	coding	Pathogenic
14	24240630	T	TG	C24240635G	TINF2	NM_001099274.3(TINF2):c.849dup:p.Thr284fs	coding	Pathogenic
14	24240640	CT	C	T24240642A	TINF2	NM_001099274.3(TINF2):c.839del:p.Lys280fs	coding	Pathogenic
14	24240653	CT	C	T24240654A	TINF2	NM_001099274.3(TINF2):c.826del:p.Arg276fs	coding	Pathogenic
14	24254969	TACAGGCC	T	A24254970C	TGM1	NM_000359.3(TGM1):c.1923_1927+2del	noncoding	Pathogenic
14	24255487	GC	G	C24255489G	TGM1	NM_000359.3(TGM1):c.1521del:p.Gln508fs	coding	Pathogenic
14	24256042	T	TG	A24256045G	TGM1	NM_000359.3(TGM1):c.1437dup:p.Ile480fs	coding	Pathogenic
14	24256070	GA	G	A24256072G	TGM1	NM_000359.3(TGM1):c.1409del:p.Phe470fs	coding	Pathogenic
14	24258355	C	CT	C24258358T	TGM1	NM_000359.3(TGM1):c.1331dup:p.Arg445fs	coding	Pathogenic
14	24258378	CATGGA	C	T24258380G	TGM1	NM_000359.3(TGM1):c.1304_1308del:p.Phe435fs	coding	Pathogenic
14	24258605	ATG	A	G24258609C	TGM1	NM_000359.3(TGM1):c.1224_1225CA[1]:p.Thr409fs	coding	Pathogenic
14	24258605	ATGTGT	A	T24258606C	TGM1	NM_000359.3(TGM1):c.1223_1227del:p.Asp408fs	coding	Pathogenic/Likely_pathogenic
14	24259795	AG	A	G24259796C	TGM1	NM_000359.3(TGM1):c.892del:p.Leu298fs	coding	Pathogenic
14	24259799	CCCCGTGG	C	C24259800T	TGM1	NM_000359.3(TGM1):c.882_888del:p.Asp294fs	coding	Pathogenic
14	24260013	AC	A	C24260014A	TGM1	NM_000359.3(TGM1):c.802del:p.Val268fs	coding	Pathogenic/Likely_pathogenic
14	24260640	G	GC	T24260647C	TGM1	NM_000359.3(TGM1):c.566dup:p.Ser190fs	coding	Pathogenic
14	24261795	G	GTACTCATACT	C24261806T	TGM1	NM_000359.3(TGM1):c.398_407dup:p.Tyr136Ter	coding	Pathogenic
14	24311220	ACT	A	C24311223G	LTB4R2	NM_019839.5(LTB4R2):c.557_558CT[1]:p.Leu187fs	coding	Benign
14	28767362	TC	T	C28767364A	FOXG1	NM_005249.5(FOXG1):c.85del:p.Gln29fs	coding	Pathogenic
14	28767410	A	AC	A28767416C	FOXG1	NM_005249.5(FOXG1):c.136dup:p.Gln46fs	coding	Pathogenic
14	28767410	A	ACC	A28767416C	FOXG1	NM_005249.5(FOXG1):c.135_136dup:p.Gln46fs	coding	Pathogenic
14	28767417	GCAC	G	C28767438T	FOXG1	NM_005249.5(FOXG1):c.141_143CCA[6]:p.His57del	coding	Benign/Likely_benign
14	28767446	ACCACCCGCCG	A	A28767449G	FOXG1	NM_005249.5(FOXG1):c.170_179del:p.His57fs	coding	Pathogenic
14	28767449	A	ACCCGCCGCCG	C28767466G	FOXG1	NM_005249.5(FOXG1):c.177_186dup:p.Pro63fs	coding	Pathogenic
14	28767450	CCCGCCGCCGCCCGCCCCGCAACCGCCGCCGCCGCCGCAGCAGCAGCAGCCGCCGCCGCCGCCGCCCCCGGCACCGCAGCCCCCCCAGACGCGGGGCGCCCCGG	C	C28767457A	FOXG1	NM_005249.5(FOXG1):c.178_280del:p.Pro60fs	coding	Pathogenic
14	28767500	CGCCGCCG	AGCCGCCCCC	C28767500A	FOXG1	NM_005249.5(FOXG1):c.221_228delinsAGCCGCCCCC:p.Pro74fs	coding	Pathogenic
14	28767504	GC	ACCG	G28767504A	FOXG1	NM_005249.5(FOXG1):c.225_226delinsACCG:p.Pro77fs	coding	Pathogenic
14	28767513	G	GC	G28767519C	FOXG1	NM_005249.5(FOXG1):c.239dup:p.Ala81fs	coding	Pathogenic
14	28767528	GC	G	C28767535A	FOXG1	NM_005249.5(FOXG1):c.256del:p.Gln86fs	coding	Pathogenic
14	28767528	G	GC	A28767536C	FOXG1	NM_005249.5(FOXG1):c.256dup:p.Gln86fs	coding	Pathogenic
14	28767538	ACGCGGGGCGCCCCGGC	A	G28767542C	FOXG1	NM_005249.5(FOXG1):c.263_278del:p.Arg88fs	coding	Pathogenic
14	28767572	GC	G	C28767577A	FOXG1	NM_005249.5(FOXG1):c.298del:p.Gln100fs	coding	Pathogenic
14	28767659	A	AG	C28767663G	FOXG1	NM_005249.5(FOXG1):c.383dup:p.Glu129fs	coding	Pathogenic
14	28767675	CG	C	G28767678C	FOXG1	NM_005249.5(FOXG1):c.399del:p.Pro134fs	coding	Pathogenic
14	28767677	GGCCGGGGGAGCTGGCGCCCGTCGGGCCGGACGAGAAGGAGAAGGGCGCCGGC	G	A28767686G	FOXG1	NM_005249.5(FOXG1):c.407_458del:p.Glu136fs	coding	Pathogenic
14	28767680	CG	C	G28767685A	FOXG1	NM_005249.5(FOXG1):c.406del:p.Glu136fs	coding	Pathogenic
14	28767732	C	CG	A28767740G	FOXG1	NM_005249.5(FOXG1):c.460dup:p.Glu154fs	coding	Pathogenic
14	28767732	CG	C	G28767739A	FOXG1	NM_005249.5(FOXG1):c.460del:p.Glu154fs	coding	Pathogenic
14	28767778	GA	G	A28767779G	FOXG1	NM_005249.5(FOXG1):c.500del:p.Glu167fs	coding	Pathogenic
14	28767779	A	AG	C28767786G	FOXG1	NM_005249.5(FOXG1):c.506dup:p.Lys170fs	coding	Pathogenic
14	28767779	AG	A	G28767785C	FOXG1	NM_005249.5(FOXG1):c.506del:p.Gly169fs	coding	Pathogenic
14	28767784	GG	C	G28767784C	FOXG1	NM_005249.5(FOXG1):c.505_506delinsC:p.Gly169fs	coding	Pathogenic
14	28767784	GG	T	G28767784T	FOXG1	NM_005249.5(FOXG1):c.505_506delinsT:p.Gly169fs	coding	Pathogenic
14	28767803	A	AGAAC	G28767809A	FOXG1	NM_005249.5(FOXG1):c.526_529dup:p.Gly177fs	coding	Pathogenic
14	28767830	TC	T	C28767831A	FOXG1	NM_005249.5(FOXG1):c.552del:p.Phe184fs	coding	Pathogenic
14	28767830	T	TC	A28767832C	FOXG1	NM_005249.5(FOXG1):c.552dup:p.Ser185fs	coding	Pathogenic
14	28767864	GC	TT	G28767864T	FOXG1	NM_005249.5(FOXG1):c.585_586delinsTT:p.Gln196Ter	coding	Pathogenic
14	28767924	CCCTTACTA	C	T28767927G	FOXG1	NM_005249.5(FOXG1):c.648_655del:p.Tyr217fs	coding	Pathogenic
14	28767979	TC	T	C28767982T	FOXG1	NM_005249.5(FOXG1):c.703del:p.Leu235fs	coding	Pathogenic
14	28768010	GCCACTACGAC	G	C28768011G	FOXG1	NM_005249.5(FOXG1):c.732_741del:p.His245fs	coding	Pathogenic
14	28768035	C	CAACT	C28768041A	FOXG1	NM_005249.5(FOXG1):c.758_761dup:p.Tyr254Ter	coding	Pathogenic
14	28768055	CG	C	G28768056T	FOXG1	NM_005249.5(FOXG1):c.777del:p.Ser260fs	coding	Pathogenic
14	28768065	CGACGT	C	A28768067T	FOXG1	NM_005249.5(FOXG1):c.788_792del:p.Asp263fs	coding	Pathogenic
14	28768132	GC	G	C28768134T	FOXG1	NM_005249.5(FOXG1):c.855del:p.Phe286fs	coding	Pathogenic
14	28768198	T	TA	C28768200A	FOXG1	NM_005249.5(FOXG1):c.920dup:p.Tyr307Ter	coding	Pathogenic
14	28768222	TC	T	C28768225T	FOXG1	NM_005249.5(FOXG1):c.946del:p.Leu316fs	coding	Pathogenic
14	28768232	AC	A	C28768237G	FOXG1	NM_005249.5(FOXG1):c.958del:p.Arg320fs	coding	Pathogenic
14	28768247	GC	G	C28768248A	FOXG1	NM_005249.5(FOXG1):c.969del:p.Ser323fs	coding	Pathogenic
14	28768258	T	TACAACGGC	C28768269A	FOXG1	NM_005249.5(FOXG1):c.982_989dup:p.Ser332fs	coding	Pathogenic
14	28768289	A	AC	A28768294C	FOXG1	NM_005249.5(FOXG1):c.1014dup:p.Met339fs	coding	Pathogenic
14	28768335	C	CA	C28768338A	FOXG1	NM_005249.5(FOXG1):c.1058dup:p.Asn353fs	coding	Pathogenic
14	28768340	AC	A	C28768341T	FOXG1	NM_005249.5(FOXG1):c.1062del:p.Ser355fs	coding	Pathogenic
14	28768359	C	CG	C28768362G	FOXG1	NM_005249.5(FOXG1):c.1082dup:p.Leu362fs	coding	Pathogenic
14	28768412	AC	A	C28768414T	FOXG1	NM_005249.5(FOXG1):c.1135del:p.Leu379fs	coding	Pathogenic
14	28768439	CG	GTC	C28768439G	FOXG1	NM_005249.5(FOXG1):c.1160_1161delinsGTC:p.Ser387fs	coding	Pathogenic
14	28768446	C	CT	G28768448T	FOXG1	NM_005249.5(FOXG1):c.1168dup:p.Cys390fs	coding	Pathogenic
14	28768677	ACTGT	A	T28768681G	FOXG1	NM_005249.5(FOXG1):c.1402_1405del:p.Ser468fs	coding	Pathogenic
14	28768689	ACTGT	A	T28768693A	FOXG1	NM_005249.5(FOXG1):c.1414_1417del:p.Ser472fs	coding	Pathogenic
14	29927416	G	GCCCGGA	T29927426G	PRKD1	NM_002742.3(PRKD1):c.91_96dup:p.Ser31_Gly32dup	coding	Benign
14	30885817	T	TTC	T30885821C	COCH	NM_004086.3(COCH):c.984_985dup:p.Phe329fs	coding	Pathogenic
14	31066332	CAAGT	C	A31066337C	AP4S1	NM_001128126.3(AP4S1):c.138+3_138+6del	coding	Pathogenic
14	31072732	CAAGT	C	A31072733G	AP4S1	NM_001128126.3(AP4S1):c.226-172_226-169del	noncoding	Benign
14	31150224	AAATGTGTAG	A	G31150228T	HECTD1	NM_015382.4(HECTD1):c.1933-12_1933-4del	noncoding	Benign
14	31562160	A	AG	C31562161G	NUBPL	NM_025152.3(NUBPL):c.201_202insG:p.Gln68fs	coding	Pathogenic
14	31673330	AAG	A	A31673335G	NUBPL	NM_025152.3(NUBPL):c.383-24AG[2]	noncoding	Benign
14	31826682	G	GGTGCTGCCTT	A31826689C	NUBPL	NM_025152.3(NUBPL):c.667_668insCCTTGTGCTG:p.Glu223delinsAlaLeuCysTer	coding	Pathogenic
14	31846550	G	GT	G31846552T	NUBPL	NM_025152.3(NUBPL):c.774dup:p.Ala259fs	coding	Pathogenic
14	34711471	AT	A	T34711473A	CFL2	NM_138638.5(CFL2):c.*1393del	noncoding	Benign
14	34711567	AAAG	A	A34711568G	CFL2	NM_138638.5(CFL2):c.*1295_*1297del	noncoding	Benign
14	34713109	GC	G	C34713110T	CFL2	NM_138638.5(CFL2):c.338del:p.Ser113fs	coding	Pathogenic
14	34713142	GAA	G	A34713153T	CFL2	NM_138638.5(CFL2):c.312-8_312-7del	noncoding	Benign
14	34713142	GA	G	A34713154T	CFL2	NM_138638.5(CFL2):c.312-7del	noncoding	Benign
14	35007368	AAAC	A	A35007376T	SRP54	NM_003136.4(SRP54):c.343_345ACA[2]:p.Thr117del	coding	Pathogenic/Likely_pathogenic
14	35401929	TTTC	T	C35401935T	NFKBIA	NM_020529.2(NFKBIA):c.*81_*83delGAA	noncoding	Benign
14	35627436	TA	T	A35627439T	RALGAPA1	NM_014990.3(RALGAPA1):c.4992del:p.Phe1664fs	coding	Pathogenic
14	36516985	A	AC	A36516990C	NKX2-1	NM_001079668.3(NKX2-1):c.*292dup	noncoding	Benign
14	36517279	C	CA	C36517281A	NKX2-1	NM_001079668.3(NKX2-1):c.1204dup:p.Ter402LeuextTer?	coding	Pathogenic
14	36517433	GC	G	C36517434T	NKX2-1	NM_001079668.3(NKX2-1):c.1050del:p.Gln350fs	coding	Pathogenic
14	36517553	TGGCGGCGCCC	T	G36517558C	NKX2-1	NM_001079668.3(NKX2-1):c.921_930del:p.Gly308fs	coding	Pathogenic
14	36517575	AC	A	C36517578G	NKX2-1	NM_001079668.3(NKX2-1):c.908del:p.Gly303fs	coding	Pathogenic
14	36517658	GCGGGCACC	G	G36517662T	NKX2-1	NM_001079668.3(NKX2-1):c.818_825del:p.Gly273fs	coding	Pathogenic
14	36517810	G	GCC	A36517813C	NKX2-1	NM_001079668.3(NKX2-1):c.672_673dup:p.Ala225fs	coding	Pathogenic
14	36517837	AG	A	G36517839T	NKX2-1	NM_001079668.3(NKX2-1):c.646del:p.Leu216fs	coding	Pathogenic
14	36517971	GC	G	C36517974A	NKX2-1	NM_001079668.3(NKX2-1):c.512del:p.Gly171fs	coding	Pathogenic
14	36517992	GC	G	C36517994G	NKX2-1;SFTA3	NM_001079668.3(NKX2-1):c.491del:p.Gly164fs	coding	Pathogenic
14	36519103	G	GC	A36519110C	NKX2-1	NM_001079668.3(NKX2-1):c.344dup:p.Tyr116fs	coding	Pathogenic
14	36519141	CCGCCGTCATGTGGTAGGCGGCGGTGACGG	C	C36519148G	NKX2-1	NM_001079668.3(NKX2-1):c.278_306del:p.Ala93fs	coding	Pathogenic
14	36519179	TGCC	GTG	T36519179G	NKX2-1	NM_001079668.3(NKX2-1):c.266_269delinsCAC:p.Gly89fs	coding	Pathogenic
14	36519180	G	GC	A36519185C	NKX2-1	NM_001079668.3(NKX2-1):c.267dup:p.His90fs	coding	Pathogenic
14	36519265	GCCCTCCATGCCCA	G	C36519267T	NKX2-1	NM_001079668.3(NKX2-1):c.170_182del:p.Val57fs	coding	Pathogenic
14	36663002	T	TCCGA	T36663010A	PAX9	NM_006194.3(PAX9):c.114_117dup:p.Cys40fs	coding	Pathogenic
14	36663212	T	TGGCGGAC	T36663224G	PAX9	NM_006194.3(PAX9):c.325_331dup:p.Val111fs	coding	Pathogenic
14	36663354	G	GCC	T36663358C	PAX9	NM_006194.3(PAX9):c.464_465dup:p.Tyr156fs	coding	Pathogenic
14	36663433	G	GC	A36663436C	PAX9	NM_001372076.1(PAX9):c.543dup:p.Ile182fs	coding	Pathogenic
14	36676218	T	TC	G36676219C	PAX9	NM_006194.3(PAX9):c.792_793insC:p.Val265fs	coding	Pathogenic
14	39151847	G	GA	T39151856A	TRAPPC6B	NM_001079537.2(TRAPPC6B):c.352-16dup	noncoding	Benign
14	39314800	GTA	G	A39314810G	MIA2	NM_203354.3(MIA2):c.1320+2TA[4]	noncoding	Benign
14	44504951	A	AGGGGCCTCCTCAGCTGGTGGAGGCTGAACTTCAGAG	C44504986A	FSCB	NM_032135.4(FSCB):c.2036_2037insCTCTGAAGTTCAGCCTCCACCAGCTGAGGAGGCCCC:p.Ala680_Glu681insSerGluValGlnProProProAlaGluGluAlaPro	coding	Benign
14	45140655	TACAAATC	T	A45140658T	FANCM	NM_020937.4(FANCM):c.708_714del:p.Asn237fs	coding	Pathogenic
14	45140657	CA	C	A45140660T	FANCM	NM_020937.4(FANCM):c.710del:p.Asn237fs	coding	Pathogenic
14	45159080	TTA	T	T45159093G	FANCM	NM_020937.4(FANCM):c.1397-15TA[6]	noncoding	Benign
14	45159189	C	CA	C45159191A	FANCM	NM_020937.4(FANCM):c.1491dup:p.Gln498fs	coding	Pathogenic/Likely_pathogenic
14	45164451	AAT	A	A45164454G	FANCM	NM_020937.4(FANCM):c.1675_1676AT[1]:p.Ile559fs	coding	Pathogenic
14	45166981	G	GTA	A45166990T	FANCM	NM_020937.4(FANCM):c.1827_1828dup:p.Lys610fs	coding	Pathogenic
14	45167105	ACCAGAGAAGCCTT	A	C45167107T	FANCM	NM_020937.4(FANCM):c.1946_1958del:p.Pro649fs	coding	Pathogenic
14	45175336	TAAAA	T	A45175340G	FANCM	NM_020937.4(FANCM):c.2586_2589del:p.Lys863fs	coding	Pathogenic/Likely_pathogenic
14	45175381	A	AT	C45175384T	FANCM	NM_020937.4(FANCM):c.2629dup:p.Ser877fs	coding	Pathogenic
14	45176194	TGA	T	A45176196T	FANCM	NM_020937.4(FANCM):c.3442_3443del:p.Leu1149fs	coding	Pathogenic
14	45176732	TCA	T	C45176733G	FANCM	NM_020937.4(FANCM):c.3979_3980del:p.Gln1327fs	coding	Pathogenic
14	45176757	A	AG	A45176758G	FANCM	NM_020937.4(FANCM):c.4003_4004insG:p.Lys1335fs	coding	Pathogenic
14	45183862	GA	G	A45183864G	FANCM	NM_020937.4(FANCM):c.4477del:p.Arg1493fs	coding	Pathogenic
14	45185207	TCTTA	T	C45185212G	FANCM	NM_020937.4(FANCM):c.4516-5_4516-2del	noncoding	Benign
14	45185335	TTTT	CAACTTTCCTCATTACTTGACTCAACATTACTTGACTCAACTCAACTC	T45185335C	FANCM	NM_020937.4(FANCM):c.4634_4637delinsCAACTTTCCTCATTACTTGACTCAACATTACTTGACTCAACTCAACTC:p.Phe1545_Leu1546delinsSerThrPheLeuIleThrTer	coding	Pathogenic
14	45188872	AATCAAGTGAAGAAGAAGTTTGTGTTGATTTTAACTTAATAACTGATGATTGCTTTGCAAATAGTAAAAAGTATAAAACTCGACGTGCAGTAATGCTAAAAGAAATGATGGAACAAAATTGTGCACATTCAAAAAAGAAATTATCCAGAATTATTTTACCAGATGATTCAAGTGAGGAGGAGAACAATGTAAATGATAAAAGAGAATCTAATATTGCGGTTAACCCAAGCACTGTTAAGAAGAACAAACAACAGGACCATTGTTTAAATTCAGTGCCTTCTGGATCTTCTGCGCAGTCCAAGGTGCGTTCTACTCCAAGAGTTAATCCATTAGCAAAGCAGAGCAAACAGACATCGCTGAATTTAAAGGATACAATTTCCGAAGTCTCAGACTTCAAACCTCAGAATCATAATGAAGTCCAGTCTACCACACCACCCTTCACTACTGTTGATTCACAGAAAGACTGTAGAAAATTTCCAGTTCCACAGAAGGTATGGATCAAAGAAAGGAAAAATATCTTTAGATGGTTACCAGAAGTTTTTCTTTTTCTTTCTTGTGTGTGTGTTTTGTATTAAATAACTAGGTCAAAGAAAAATTAACAAAAAAATTTTGCAGAAAATGTCTTCAAACAAGAAAACAATACACAAAATTATATGGGCAATTCACAGGGTGCTTAGGTTTTAATTTTTTAAATATGTTAATGTTTTGTTAACACTATGTAAGGAAACTTGATAATTTTATTAAAAGGTTGTGGGAAAATAGGGCTTTCTGCAAGGCAAAATTAACTGAAATTATGTGTTCAGAGTTAGTTCCCTGGCCAGATGCGGTGGCTCATGCCTGTAATCCCAGCACTCTGGGAGGCCGAGGCAGGTGGATCACTTGAGGTCAGGAGTTCAAGACTAGCCTGGCCAACATGATGAAATCCCGTCTCTACTAAAAACACAAAATCAGCCAGGTGTGGTTGCGTATCCCTGTAGTCCCACCTACTTGGGAGGTTGAGGTAGGAGAATCGCTTAAATCCGGGAGGCAGAGGTTGCAGTCAGCCGAGATCATGCCATTGCACCCCAGCCTGGGTGACAGAGCAAGACTCCAT	A	A45188873C	FANCM	NM_020937.4(FANCM):c.4851_5340+602del	coding	Pathogenic
14	45189068	TAAAAG	T	A45189070G	FANCM	NM_020937.4(FANCM):c.5048_5052del:p.Lys1683fs	coding	Pathogenic
14	45196323	TAG	T	G45196325A	FANCM	NM_020937.4(FANCM):c.5494_5495del:p.Glu1832fs	coding	Pathogenic
14	45196360	GC	G	C45196361A	FANCM	NM_020937.4(FANCM):c.5530del:p.Gln1844fs	coding	Pathogenic
14	45198673	AAG	A	A45198676C	FANCM	NM_020937.4(FANCM):c.5749_5750del:p.Ser1917fs	coding	Pathogenic
14	49622020	A	AT	G49622022T	MGAT2	NM_002408.4(MGAT2):c.753dup:p.Ala252fs	coding	Pathogenic
14	49633716	A	AC	A49633721C	DNAAF2	NM_018139.2(DNAAF2):c.1433dup:p.Ser479fs	coding	Pathogenic
14	49633935	A	AGCCACGCAGGTATCGT	G49633953C	DNAAF2	NM_018139.2(DNAAF2):c.1199_1214dupACGATACCTGCGTGGC:p.Gly406Argfs	coding	Pathogenic
14	49633946	T	TA	T49633948A	DNAAF2	NM_018139.2(DNAAF2):c.1203dup:p.Thr402fs	coding	Pathogenic
14	49633990	T	TCCCC	T49633996C	DNAAF2	NM_018139.2(DNAAF2):c.1156_1159dup:p.Glu387fs	coding	Pathogenic
14	49634314	A	ACGGGGCT	G49634329C	DNAAF2	NM_018139.2(DNAAF2):c.822_828AGCCCCG[3]:p.Val279fs	coding	Pathogenic
14	49634395	TCGGTGGGGGCGGGCTGCAAGGCCGCTTC	T	T49634399A	DNAAF2	NM_018139.3(DNAAF2):c.727_754del:p.Glu243fs	coding	Pathogenic
14	49634447	CGGGGGCT	C	G49634449C	DNAAF2	NM_018139.2(DNAAF2):c.696_702del:p.Ala233fs	coding	Pathogenic
14	49634917	A	AGCACATG	C49634927A	DNAAF2	NM_018139.2(DNAAF2):c.226_232dup:p.Leu78fs	coding	Pathogenic
14	49635118	TC	T	C49635120A	DNAAF2	NM_018139.2(DNAAF2):c.31del:p.Glu11fs	coding	Pathogenic
14	49789165	T	TCTACA	G49789171C	NEMF	NM_004713.6(NEMF):c.2871_2875dup:p.Asp959delinsValTer	coding	Pathogenic
14	49789272	CT	C	T49789274C	NEMF	NM_004713.6(NEMF):c.2768del:p.Lys923fs	coding	Pathogenic
14	49795791	CT	C	T49795795G	NEMF	NM_004713.6(NEMF):c.2618del:p.Lys873fs	coding	Pathogenic
14	49828805	T	TG	T49828806G	NEMF	NM_004713.6(NEMF):c.1234_1235insC:p.Asn412fs	coding	Pathogenic
14	50118794	T	TGGA	C50118806A	SOS2	NM_006939.4(SOS2):c.3540_3542TCC[4]:p.Pro1183dup	coding	Benign
14	50118856	CA	C	A50118866G	SOS2	NM_006939.4(SOS2):c.3490-4del	noncoding	Benign
14	50118856	C	CAA	G50118867A	SOS2	NM_006939.4(SOS2):c.3490-13_3490-12dup	noncoding	Benign
14	50118856	C	CA	G50118867A	SOS2	NM_006939.4(SOS2):c.3490-13dup	noncoding	Benign
14	50138789	TA	T	A50138802G	SOS2	NM_006939.4(SOS2):c.2786-6del	noncoding	Benign
14	50138789	T	TA	G50138803A	SOS2	NM_006939.4(SOS2):c.2786-18dup	noncoding	Benign
14	50156705	T	TA	T50156712A	SOS2	NM_006939.4(SOS2):c.2057+288dup	noncoding	Benign
14	50156978	TAA	T	A50156983T	SOS2	NM_006939.4(SOS2):c.2057+19_2057+20del	noncoding	Benign/Likely_benign
14	50160204	ACAG	A	G50160207T	SOS2	NM_006939.4(SOS2):c.1197-121_1197-119del	noncoding	Benign
14	50174188	TTATA	T	A50174196T	SOS2	NM_006939.4(SOS2):c.1068+256TA[3]	noncoding	Benign
14	50174336	TTAAA	T	A50174339C	SOS2	NM_006939.4(SOS2):c.1068+114_1068+117del	noncoding	Benign
14	50182288	T	TCAAGCAGTCC	T50182289C	SOS2	NM_006939.4(SOS2):c.858+174_858+175insGGACTGCTTG	noncoding	Benign
14	50188428	CTATT	C	T50188432G	SOS2	NM_006939.4(SOS2):c.714+65_714+68del	noncoding	Benign
14	50265150	GGACCAGCACTAAGGGCCATGATGTAGCAATGCCCAATAAATGCACTGCAAAGGGAATTCAACAACATGTTGGGAAAGAAAGCAAACAAAAATTCAGTGCATATGCAGACTGACTCTGAAATGGTACTTACTAATCACCAAGTCAGACCCACCTCTCAAGTTCACATAGGTCAGGACTGTATTTACACTCCTTATCCCTTTTCCTTACCTAAGTATATCACTGATAGTAATTTCAGGGATGAATTTTTGAAGATACTTCACTGTTGCACCAAGAAAACATGCTTTATACATTTCAGTAACTCCATAGGAAAAATTCTGGGATGCCAGTTTAATCAAGCCACTGAAAACAGAGA	G	G50265151A	L2HGDH	NM_024884.3(L2HGDH):c.1065-13_1196+207del	noncoding	Pathogenic
14	50265438	CA	C	A50265439T	L2HGDH	NM_024884.3(L2HGDH):c.1115del:p.Met372fs	coding	Pathogenic
14	50267801	CT	C	T50267802G	L2HGDH	NM_024884.3(L2HGDH):c.1015del:p.Arg339fs	coding	Pathogenic
14	50294124	TG	T	G50294126C	L2HGDH	NM_024884.3(L2HGDH):c.530del:p.Pro177fs	coding	Pathogenic
14	50294189	CT	C	T50294192C	L2HGDH	NM_024884.3(L2HGDH):c.465del:p.Gly156fs	coding	Pathogenic
14	50294250	C	CA	G50294262A	L2HGDH	NM_024884.3(L2HGDH):c.409-15dup	noncoding	Benign
14	50623384	C	CAT	G50623385A	ATL1	NM_001127713.1(ATL1):c.1119+136_1119+137insAT	noncoding	Benign
14	50628216	CAAT	C	A50628217G	ATL1	NM_001127713.1(ATL1):c.1306_1308del:p.Asn436del	coding	Pathogenic
14	50628428	T	TA	T50628431A	ATL1	NM_001127713.1(ATL1):c.1519dupA_(Ile507Asnfs	coding	Pathogenic
14	50629892	G	GTTCTT	A50629893T	ATL1	NM_001127713.1(ATL1):c.1551+1430_1551+1431insTTCTT	noncoding	Benign
14	50735623	T	TA	C50735632A	NIN	NM_016350.4(NIN):c.3637-14dup	noncoding	Benign
14	50758547	CT	C	T50758548C	NIN	NM_020921.3(NIN):c.2482del:p.Arg828fs	coding	Pathogenic
14	50806820	T	TA	T50806829A	NIN	NM_016350.4(NIN):c.184-10dup	noncoding	Benign
14	50905380	CA	C	A50905382T	PYGL	NM_002863.5(PYGL):c.*11del	noncoding	Benign
14	50911872	CT	C	T50911875G	PYGL	NM_002863.5(PYGL):c.1828-2del	noncoding	Benign
14	50911986	CA	C	A50911988T	PYGL	NM_002863.5(PYGL):c.1818del:p.Ile606fs	coding	Pathogenic
14	50912275	A	AG	A50912278G	PYGL	NM_002863.5(PYGL):c.1648dup:p.Leu550fs	coding	Pathogenic
14	50917046	C	CAAGG	T50917051A	PYGL	NM_002863.5(PYGL):c.911_914dup:p.Leu305fs	coding	Pathogenic
14	50931691	CTT	TTA	C50931691T	PYGL	NM_002863.5(PYGL):c.508_510delinsTAA:p.Lys170Ter	coding	Pathogenic
14	50937773	AGGTTGATCAT	A	T50937777G	PYGL	NM_002863.5(PYGL):c.298_307del:p.Met100fs	coding	Pathogenic
14	50944359	G	GCTGATCTGCCGCCGCTTCTC	G50944383A	PYGL	NM_002863.5(PYGL):c.25_44dup:p.Ser15fs	coding	Pathogenic
14	53055920	T	TA	T53055932A	DDHD1	NM_001160148.2(DDHD1):c.1993-19dup	noncoding	Benign
14	53062954	T	TA	T53062956A	DDHD1	NM_001160148.2(DDHD1):c.1754dup:p.Thr586fs	coding	Pathogenic/Likely_pathogenic
14	53073854	AAAC	A	C53073857A	DDHD1	NM_001160148.2(DDHD1):c.1290-10_1290-8del	noncoding	Benign
14	53093412	C	CA	T53093414A	DDHD1	NM_001160148.2(DDHD1):c.1044dup:p.Val349fs	coding	Pathogenic
14	53103723	AT	A	T53103727C	DDHD1	NM_001160148.2(DDHD1):c.971del:p.Asn324fs	coding	Pathogenic
14	53152762	T	CGCCGCC	T53152762C	DDHD1	NM_001160148.2(DDHD1):c.337delinsGGCGGCG:p.Ser113delinsGlyGlyGly	coding	Benign
14	53152762	T	TGCCGCCGCCGCC	T53152777C	DDHD1	NM_001160148.2(DDHD1):c.325_327GGC[8]:p.Gly109_Gly112dup	coding	Benign
14	53152762	T	TGCCGCCGCC	T53152777C	DDHD1	NM_001160148.2(DDHD1):c.325_327GGC[7]:p.Gly110_Gly112dup	coding	Benign/Likely_benign
14	53152762	T	TGCCGCC	T53152777C	DDHD1	NM_001160148.2(DDHD1):c.325_327GGC[6]:p.Gly111_Gly112dup	coding	Benign
14	54842960	G	GAT	C54842961A	GCH1	NM_000161.3(GCH1):c.*1056_*1057insAT	noncoding	Benign
14	54843122	AAAG	A	G54843134A	GCH1	NM_000161.3(GCH1):c.*883_*885CTT[3]	coding	Benign
14	54844137	CAT	C	A54844138G	GCH1	NM_000161.3(GCH1):c.631_632del:p.Met211fs	coding	Pathogenic
14	54859678	TAC	CTCACA	T54859678C	GCH1	NM_000161.3(GCH1):c.509+1_509+3delinsTGTGAG	noncoding	Pathogenic
14	54859716	AG	A	G54859718A	GCH1	NM_000161.3(GCH1):c.473del:p.Pro158fs	coding	Pathogenic
14	54902385	C	CT	G54902388T	GCH1	NM_000161.3(GCH1):c.278dup:p.Thr94fs	coding	Pathogenic
14	54902415	G	GC	A54902419C	GCH1	NM_000161.3(GCH1):c.248dup:p.Glu84fs	coding	Pathogenic
14	54902440	TAGGC	T	A54902441G	GCH1	NM_000161.3(GCH1):c.220_223del:p.Ala74fs	coding	Pathogenic
14	54902467	AGCTCGTTATCC	T	A54902467T	GCH1	NM_000161.3(GCH1):c.186_197delinsA:p.Asp63fs	coding	Pathogenic
14	54902533	G	GCCTC	G54902538C	GCH1	NM_000161.3(GCH1):c.127_130dup:p.Ala44fs	coding	Pathogenic
14	54902537	C	CG	C54902541G	GCH1	NM_000161.3(GCH1):c.126dup:p.Glu43fs	coding	Pathogenic
14	54902587	TC	T	C54902590G	GCH1	NM_000161.3(GCH1):c.76del:p.Asp26fs	coding	Pathogenic
14	54902637	C	CAGA	G54902638A	GCH1	NM_000161.3(GCH1):c.26_27insTCT:p.Ala10_Glu11insLeu	coding	Pathogenic
14	56609188	C	CT	A56609191T	TMEM260	NM_017799.4(TMEM260):c.721dup:p.Tyr241fs	coding	Pathogenic
14	56633141	GTATC	G	C56633145A	TMEM260	NM_017799.4(TMEM260):c.1698_1701del:p.Tyr567fs	coding	Pathogenic
14	56801817	GT	G	T56801820G	OTX2	NM_021728.4(OTX2):c.811del:p.Thr271fs	coding	Pathogenic
14	56801844	GTGGT	G	G56801847A	OTX2	NM_021728.4(OTX2):c.781_784del:p.Thr261fs	coding	Pathogenic
14	56801879	TC	T	C56801882T	OTX2	NM_021728.4(OTX2):c.749del:p.Gly250fs	coding	Pathogenic
14	56801955	GC	G	C56801959T	OTX2	NM_021728.4(OTX2):c.673del:p.Ala225fs	coding	Pathogenic
14	56802032	GC	G	C56802034A	OTX2	NM_021728.4(OTX2):c.596del:p.Gly199fs	coding	Pathogenic
14	56802140	A	AGC	T56802143G	OTX2	NM_021728.4(OTX2):c.487_488dup:p.Ser164fs	coding	Pathogenic
14	56802199	T	TAG	G56802204A	OTX2	NM_021728.4(OTX2):c.426_427CT[3]:p.Ser144fs	coding	Pathogenic
14	56802202	A	AG	A56802209G	OTX2	NM_172337.2(OTX2):c.402dup:p.Ser135Leufs	coding	Pathogenic
14	56802312	TG	T	G56802313C	OTX2	NM_021728.4(OTX2):c.316del:p.Gln106fs	coding	Pathogenic
14	56804200	CTCGGGCAAGTTGATTT	C	G56804203A	OTX2	NM_021728.4(OTX2):c.245_260del:p.Lys82fs	coding	Pathogenic
14	56805375	AG	A	G56805379T	OTX2	NM_021728.4(OTX2):c.81del:p.Ser28fs	coding	Pathogenic
14	58270970	TAAG	T	A58270972G	PSMA3	NM_002788.4(PSMA3):c.697_699del:p.Arg233del	coding	Pathogenic
14	58428294	G	GA	G58428303A	KIAA0586	NM_001329943.3(KIAA0586):c.38dup:p.Ile14fs	coding	Pathogenic
14	58432438	AG	A	G58432439A	KIAA0586	NM_001329943.3(KIAA0586):c.392del:p.Arg131fs	coding	Pathogenic/Likely_pathogenic
14	58444071	CAA	C	A58444072G	KIAA0586	NM_001329943.3(KIAA0586):c.704_705del:p.Gln235fs	coding	Pathogenic
14	58444155	C	CA	C58444158A	KIAA0586	NM_001329943.3(KIAA0586):c.789dup:p.Gln264fs	coding	Pathogenic/Likely_pathogenic
14	58448437	AC	A	C58448440T	KIAA0586	NM_001329943.3(KIAA0586):c.908del:p.Pro303fs	coding	Pathogenic
14	58456719	AGCT	GA	A58456719G	KIAA0586	NM_001329943.3(KIAA0586):c.1271_1274delinsGA:p.Glu424fs	coding	Pathogenic
14	58457965	TTTATC	T	T58457967A	KIAA0586	NM_001329943.3(KIAA0586):c.1571_1575del:p.Leu524fs	coding	Pathogenic
14	58470673	CTGTCT	C	T58470674A	KIAA0586	NM_001329943.3(KIAA0586):c.2504_2508del:p.Leu835fs	coding	Pathogenic
14	58482492	A	AT	A58482505T	KIAA0586	NM_001329943.3(KIAA0586):c.2945-9dup	noncoding	Benign
14	58487027	GC	AG	G58487027A	KIAA0586	NM_001329943.3(KIAA0586):c.3165_3166delinsAG:p.Pro1056Ala	coding	Benign
14	58498823	GA	G	A58498824C	KIAA0586	NM_001329943.3(KIAA0586):c.4032del:p.Arg1344fs	coding	Pathogenic/Likely_pathogenic
14	60509167	GCCGGCGTGCCTGAGCCGAGCCGAGCCCGAACCCCAAGCCGCGGAGCCAGCACCTCCTCCAGTCGGGGTCGTCCGCTCCCGGCCGTTGAGCCACCGCCGCCACCCGGTAGTGTGTCCCGCTGCCCCAATCCGCCTCATCAACAAGCGCCTGGCACACTCAGCCAGGCCCGCGGGCATCTGCTGCGTGTCCCGCTCCGGGCTCAGTGCCCTCGCCGCCGCCGGCACTGCCTCGATGTTCCAGCTGCCCATCTTGAATTTCAGCCCCCAGCAAGTGGCCGGGGTATGTGAGACCCTGGAAGAGAGCGGCGATGTGGAGCGCCTGGGTCGCTTCCTCTGGTCGCTGCCCGTGGCCCCTGCGGCCTGCGAGGCCCTCAACAAGAATGAGTCGGTGCTACGCGCACGAGCCATCGTGGCCTTTCACGGTGGCAACTACCGCGAGCTCTATCATATCCTGGAAAACCACAAGTTCACCAAGGAGTCGCACGCCAAGCTGCAGGCGCTGTGGCTTGAAGCACACTACCAGGAGGCTGAGAAGCTGCGTGGAAGACCCCTGGGACCTGTGGACAAGTACCGAGTAAGGAAGAAGTTCCCGCTGCCGCGCACCATTTGGGACGGCGAACAGAAGACACACTGCTTCAAGGAGCGCACGCGGCACCTGCTACGCGAGTGGTACCTGCAGGATCCATACCCTAACCCCAGCAAAAAACGTGAGCTCGCCCAGGCAACCGGACTGACCCCTACGCAGGTGGGCAACTGGTTCAAAAACCGCCGACAAAGGGACCGAGCGGCTGCAGCCAAGAACAGGTCGGTACCTAGAGGCCTCCGCGCTTTGAGCGCACCGGGGAGGAGGCGGGTGGAGGCACCTCTGGCGCCCTTACCCAGTCCCTGGCGACTCCAATTCAGCAGGAGTTGGGAGCGCGGTCTGTCTTGGGTTAAGAGCCCTGCGTTCTGGGCTCCTGGCCGGGAGTTCCCTTGCCGGCTCTGCTTCCCCACCCGCTGGCTCCCCACGCCTGCGGGCAGCTGCAGCAGCTGGTC	G	C60509172T	SIX6	NM_007374.3(SIX6):c.-227_572+235del	noncoding	Pathogenic
14	60645516	TA	T	A60645528C	SIX1	NM_005982.4(SIX1):c.*766del	noncoding	Benign
14	60646017	GT	G	T60646034C	SIX1	NM_005982.4(SIX1):c.*265del	noncoding	Benign
14	60648790	TCTC	T	C60648793T	SIX1	NM_005982.4(SIX1):c.397_399del:p.Glu133del	coding	Pathogenic
14	60979889	TA	T	A60979907T	TRMT5	NM_020810.3(TRMT5):c.12-4del	noncoding	Benign
14	60979889	T	TA	T60979908A	TRMT5	NM_020810.3(TRMT5):c.12-21dup	noncoding	Benign
14	61734128	T	TC	T61734135C	HIF1A	NM_001530.4(HIF1A):c.881-4dup	noncoding	Benign
14	63006481	GA	G	A63006489C	KCNH5	NM_139318.5(KCNH5):c.198-10del	noncoding	Benign
14	63006481	G	GA	C63006490A	KCNH5	NM_139318.5(KCNH5):c.198-17dup	noncoding	Benign
14	63976540	C	CT	C63976560T	SYNE2	NM_182914.3(SYNE2):c.1129-4dup	noncoding	Benign
14	63993818	A	ATT	A63993833T	SYNE2	NM_182914.3(SYNE2):c.2647-4_2647-3dup	noncoding	Benign
14	64031210	CA	TG	C64031210T	SYNE2	NM_015180.5(SYNE2):c.7074_7075inv:p.Ser2359Gly	coding	Benign
14	64142069	ATCT	A	T64142075A	SYNE2	NM_182914.3(SYNE2):c.15290_15292TTC[1]:p.Leu5098del	coding	Benign/Likely_benign
14	64431867	CT	C	T64431874C	MTHFD1	NM_005956.4(MTHFD1):c.1494+13del	noncoding	Benign
14	64767704	TG	T	G64767706C	SPTB	NM_001355436.2(SPTB):c.6177del:p.Ser2060fs	coding	Pathogenic
14	64767745	T	TTC	C64767750T	SPTB	NM_001355436.2(SPTB):c.6133_6134GA[3]:p.Lys2046fs	coding	Pathogenic
14	64770878	CCCTCACCTGGG	C	A64770883T	SPTB	NM_001355436.2(SPTB):c.5794_5798+6del	noncoding	Pathogenic
14	64773397	T	TGGGC	T64773398G	SPTB	NM_001355436.2(SPTB):c.5000_5001insGCCC:p.Val1668fs	coding	Pathogenic
14	64782497	CT	C	T64782501G	SPTB	NM_001355436.2(SPTB):c.4058del:p.Lys1353fs	coding	Pathogenic
14	64793750	CG	C	G64793751T	SPTB	NM_001355436.2(SPTB):c.1912del:p.Arg638fs	coding	Pathogenic
14	64796559	GGGCCACGA	G	C64796563G	SPTB	NM_001355436.2(SPTB):c.1331_1338del:p.Leu444fs	coding	Pathogenic
14	65077909	TCA	T	A65077911C	MAX	NM_002382.5(MAX):c.295+2_295+3del	noncoding	Pathogenic
14	65077964	G	GGT	G65077974T	MAX	NM_002382.5(MAX):c.236_237AC[5]:p.Gln82fs	coding	Pathogenic
14	65077974	G	GT	C65077980T	MAX	NM_002382.5(MAX):c.233dup:p.Asn78fs	coding	Pathogenic/Likely_pathogenic
14	65077979	TC	T	C65077981T	MAX	NM_002382.5(MAX):c.228del:p.Asn78fs	coding	Pathogenic
14	65077986	CATATACTGGAT	C	A65077991T	MAX	NM_002382.5(MAX):c.211_221del:p.Ile71fs	coding	Pathogenic
14	65093758	CT	C	T65093761G	MAX	NM_002382.5(MAX):c.120del:p.Asp41fs	coding	Pathogenic
14	65093780	T	TC	G65093782C	MAX	NM_002382.5(MAX):c.98dup:p.Arg35fs	coding	Pathogenic
14	65101586	GA	G	A65101597T	MAX	NM_002382.5(MAX):c.37-15del	noncoding	Benign
14	67722698	CTCCA	C	C67722705A	RDH12	NM_152443.3(RDH12):c.59_62CATC[1]:p.Ile22fs	coding	Pathogenic/Likely_pathogenic
14	67725120	G	GC	A67725122C	RDH12	NM_152443.3(RDH12):c.210dup:p.Arg71fs	coding	Pathogenic/Likely_pathogenic
14	67726136	CCTG	GGT	C67726136G	RDH12	NM_152443.3(RDH12):c.429_432delinsGGT:p.His143fs	coding	Pathogenic
14	67727017	TA	T	A67727020G	RDH12	NM_152443.3(RDH12):c.488del:p.Lys163fs	coding	Pathogenic
14	67729211	GCAGT	G	C67729212G	RDH12	NM_152443.3(RDH12):c.680_683del:p.Ala227fs	coding	Pathogenic
14	67729245	T	TC	G67729248C	RDH12	NM_152443.3(RDH12):c.715dup:p.Arg239fs	coding	Pathogenic
14	67729286	TC	T	C67729291T	RDH12	NM_152443.3(RDH12):c.759del:p.Phe254fs	coding	Pathogenic
14	67729286	T	TC	T67729292C	RDH12	NM_152443.3(RDH12):c.759dup:p.Phe254fs	coding	Pathogenic
14	67729307	CG	C	G67729310A	RDH12	NM_152443.3(RDH12):c.778del:p.Glu260fs	coding	Pathogenic
14	67729311	A	AG	C67729317G	RDH12	NM_152443.3(RDH12):c.784dup:p.Ala262fs	coding	Pathogenic
14	67729336	CGCCCT	C	C67729338G	RDH12	NM_152443.3(RDH12):c.806_810del:p.Ala269fs	coding	Pathogenic
14	67733765	G	GT	G67733767T	RDH12	NM_152443.3(RDH12):c.869dup:p.Ser291fs	coding	Pathogenic
14	67753782	A	AATC	G67753788C	ZFYVE26	NM_015346.4(ZFYVE26):c.7129-19_7129-17dup	noncoding	Benign
14	67762275	C	CA	G67762277A	ZFYVE26	NM_015346.4(ZFYVE26):c.6296dup:p.Asn2100fs	coding	Pathogenic
14	67766344	AGGCCCTTGGA	GATT	A67766344G	ZFYVE26	NM_015346.4(ZFYVE26):c.5884_5894delinsAATC:p.Ser1962fs	coding	Pathogenic
14	67767799	C	CA	C67767803A	ZFYVE26	NM_015346.4(ZFYVE26):c.5694dup:p.Val1899fs	coding	Pathogenic
14	67769730	AC	A	C67769731T	ZFYVE26	NM_015346.4(ZFYVE26):c.5485-1del	coding	Pathogenic/Likely_pathogenic
14	67772172	TC	T	C67772174T	ZFYVE26	NM_015346.4(ZFYVE26):c.5358del:p.Ser1787fs	coding	Pathogenic
14	67775054	C	CTAGG	G67775059T	ZFYVE26	NM_015346.4(ZFYVE26):c.5278_5281dup:p.Arg1761delinsThrTer	coding	Pathogenic
14	67776044	CA	C	A67776045G	ZFYVE26	NM_015346.4(ZFYVE26):c.5036del:p.Leu1679fs	coding	Pathogenic
14	67777667	AGT	A	T67777671C	ZFYVE26	NM_015346.4(ZFYVE26):c.4862_4863AC[1]:p.His1621_Thr1622insTer	coding	Pathogenic
14	67781446	GC	G	C67781448A	ZFYVE26	NM_015346.4(ZFYVE26):c.4455del:p.Trp1485fs	coding	Pathogenic
14	67783037	G	GGCCCTTC	C67783038G	ZFYVE26	NM_015346.4(ZFYVE26):c.4114_4115insGAAGGGC:p.Ala1372fs	coding	Pathogenic
14	67783052	TCAAA	T	A67783055G	ZFYVE26	NM_015346.4(ZFYVE26):c.4096_4099del:p.Phe1366fs	coding	Pathogenic
14	67784365	G	GAT	G67784368A	ZFYVE26	NM_015346.4(ZFYVE26):c.3593_3594dup:p.Leu1199fs	coding	Pathogenic
14	67785115	AAGAAGGTGCCCAAGTAGTCC	A	G67785117T	ZFYVE26	NM_015346.4(ZFYVE26):c.3447_3466del:p.Met1149fs	coding	Pathogenic
14	67785208	TG	T	G67785211C	ZFYVE26	NM_015346.4(ZFYVE26):c.3373del:p.His1125fs	coding	Pathogenic
14	67790626	T	TCCGAATGGTGCTGCTAC	C67790647A	ZFYVE26	NM_015346.4(ZFYVE26):c.2684_2700dup:p.Arg901fs	coding	Pathogenic
14	67793710	CA	C	A67793712T	ZFYVE26	NM_015346.4(ZFYVE26):c.2450del:p.Leu817fs	coding	Pathogenic
14	67797664	CA	C	A67797665G	ZFYVE26	NM_015346.4(ZFYVE26):c.2332+7del	noncoding	Benign/Likely_benign
14	67798187	AG	A	G67798188A	ZFYVE26	NM_015346.4(ZFYVE26):c.2074del:p.Leu692fs	coding	Pathogenic
14	67798328	A	AT	G67798331T	ZFYVE26	NM_015346.4(ZFYVE26):c.1933dup:p.Met645fs	coding	Pathogenic
14	67798469	TC	T	C67798471T	ZFYVE26	NM_015346.4(ZFYVE26):c.1792del:p.Asp598fs	coding	Pathogenic
14	67804191	GGA	G	A67804195T	ZFYVE26	NM_015346.4(ZFYVE26):c.1343_1344del:p.Leu448fs	coding	Pathogenic
14	67815813	C	CT	A67815815T	ZFYVE26	NM_015346.4(ZFYVE26):c.150dup:p.Glu51fs	coding	Pathogenic
14	69779174	AT	A	T69779175A	SLC10A1	NM_003049.4(SLC10A1):c.746+7del	noncoding	Benign
14	73192817	TC	T	C73192820T	PSEN1	NM_000021.4(PSEN1):c.725del:p.Pro242fs	coding	Pathogenic
14	73219185	GC	TG	G73219185T	PSEN1	NM_000021.4(PSEN1):c.1300_1301delinsTG:p.Ala434Cys	coding	Pathogenic
14	73537825	GGCGCGAGCCGGTGC	G	A73537831G	ACOT1	NM_001037161.2(ACOT1):c.410_423del:p.Glu137fs	coding	Pathogenic
14	73671555	ATTATCTT	A	T73671557A	DNAL1	NM_031427.4(DNAL1):c.224_230del:p.Ile74_Leu75insTer	coding	Pathogenic/Likely_pathogenic
14	73687374	TA	T	A73687378G	DNAL1	NM_031427.4(DNAL1):c.384del:p.Asp129fs	coding	Pathogenic
14	73700358	GA	G	A73700369T	DNAL1	NM_031427.4(DNAL1):c.*4427del	noncoding	Benign
14	73701944	TA	T	A73701958G	DNAL1	NM_031427.4(DNAL1):c.*6016del	noncoding	Benign
14	73884091	CTT	C	T73884095C	PTGR2	NM_152444.4(PTGR2):c.980-6_980-5del	noncoding	Benign
14	73961349	CG	C	G73961350T	COQ6	NM_182476.3(COQ6):c.1069del:p.Val357fs	coding	Pathogenic
14	73962974	AG	A	G73962975A	COQ6	NM_182476.3(COQ6):c.1383del:p.Ile462fs	coding	Pathogenic
14	73977387	G	GA	G73977403A	ENTPD5	NM_001249.4(ENTPD5):c.442-28dup	noncoding	Benign
14	74067571	T	TA	T74067581A	ALDH6A1	NM_005589.4(ALDH6A1):c.853-11dup	noncoding	Benign/Likely_benign
14	74072620	AAC	A	C74072622A	ALDH6A1	NM_005589.4(ALDH6A1):c.112-11_112-10del	noncoding	Benign
14	74239626	C	CG	C74239633G	VSX2	NM_182894.3(VSX2):c.71dup:p.Ala25fs	coding	Pathogenic
14	74239767	GC	G	C74239771G	VSX2	NM_182894.3(VSX2):c.210del:p.Ala71fs	coding	Pathogenic
14	74239827	CG	C	G74239828C	VSX2	NM_182894.3(VSX2):c.267del:p.Gln90fs	coding	Pathogenic
14	74260844	A	AGAG	C74260858A	VSX2	NM_182894.3(VSX2):c.1013_1015AGG[5]:p.Glu341dup	coding	Benign
14	74286706	C	CAG	A74286708G	ABCD4	NM_005050.4(ABCD4):c.1746_1747insCT:p.Glu583fs	coding	Pathogenic
14	74295205	GGACC	G	G74295206A	ABCD4	NM_005050.4(ABCD4):c.669-11_669-8del	noncoding	Benign
14	74484297	T	TCTG	T74484300G	NPC2	NM_006432.4(NPC2):c.363+117_363+118insAGC	noncoding	Benign
14	74484564	C	CCTTG	G74484571T	NPC2	NM_006432.5(NPC2):c.210_213dup:p.Ala72fs	coding	Pathogenic
14	74493195	C	CA	G74493197A	NPC2	NM_006432.5(NPC2):c.79dup:p.Cys27fs	coding	Pathogenic
14	74493247	GC	G	C74493248A	NPC2	NM_006432.4(NPC2):c.27del:p.Leu10fs	coding	Pathogenic
14	74500903	T	TG	C74500911G	LTBP2	NM_000428.3(LTBP2):c.5446dup:p.His1816fs	coding	Pathogenic
14	74500973	AG	A	G74500974T	LTBP2	NM_000428.3(LTBP2):c.5376del:p.Cys1793fs	coding	Pathogenic
14	74535993	C	CG	A74535998G	LTBP2	NM_000428.3(LTBP2):c.1796dup:p.Val600fs	coding	Pathogenic
14	74551332	AG	A	G74551335A	LTBP2	NM_000428.3(LTBP2):c.1417del:p.Leu473fs	coding	Pathogenic
14	74552329	GGGGCACCAGCATTC	G	G74552331T	LTBP2	NM_000428.3(LTBP2):c.1243_1256del:p.Glu415fs	coding	Pathogenic
14	74555511	GA	G	A74555512T	LTBP2	NM_000428.3(LTBP2):c.1012del:p.Ser338fs	coding	Pathogenic
14	74611532	GC	G	C74611535G	LTBP2	NM_000428.3(LTBP2):c.412del:p.Ala138fs	coding	Pathogenic
14	75003030	AG	A	G75003032A	EIF2B2	NM_014239.4(EIF2B2):c.42del:p.Ile15fs	coding	Pathogenic
14	75005875	ATGGCT	TG	A75005875T	EIF2B2	NM_014239.4(EIF2B2):c.607_612delinsTG:p.Met203fs	coding	Pathogenic
14	75017201	T	TCTATGGGAAGAAAGAATAACTTCAATTAGCAATATGA	A75017239C	MLH3	NM_001040108.1(MLH3):c.4243-37_4243-1dup	coding	Benign
14	75048770	GC	G	C75048772G	MLH3	NM_014381.3(MLH3):c.885del:p.His296fs	coding	Pathogenic
14	75106597	AG	A	G75106599A	NEK9	NM_033116.6(NEK9):c.1432del:p.Leu478fs	coding	Pathogenic
14	75118938	G	GA	G75118948A	NEK9	NM_033116.6(NEK9):c.525-12dup	noncoding	Benign
14	75135008	T	TA	C75135018A	TMED10	NM_006827.6(TMED10):c.539-11dup	noncoding	Benign
14	75578850	GTC	G	C75578854G	FLVCR2	NM_017791.3(FLVCR2):c.-121_-120CT[1]	noncoding	Benign
14	75690220	CT	C	T75690221G	TTLL5	NM_015072.5(TTLL5):c.401del:p.Leu134fs	coding	Pathogenic
14	75707683	ATC	A	C75707687A	TTLL5	NM_015072.5(TTLL5):c.720_721del:p.Leu240_Tyr241insTer	coding	Pathogenic
14	75720635	TA	T	A75720637T	TTLL5	NM_015072.5(TTLL5):c.976del:p.Ile326fs	coding	Pathogenic
14	75764623	C	CT	G75764625T	TTLL5	NM_015072.5(TTLL5):c.1560dup:p.Asp521Ter	coding	Pathogenic
14	75764647	TAGAG	T	A75764650T	TTLL5	NM_015072.5(TTLL5):c.1584_1585AG[1]:p.Glu529fs	coding	Pathogenic
14	75766160	TC	T	C75766163A	TTLL5	NM_015072.5(TTLL5):c.1810del:p.Gln604fs	coding	Pathogenic
14	75771849	C	CAGAT	G75771854A	TTLL5	NM_015072.5(TTLL5):c.2132_2135dup:p.Met712fs	coding	Pathogenic
14	75775607	G	GA	C75775609A	TTLL5	NM_015072.5(TTLL5):c.2261dup:p.Asp754fs	coding	Pathogenic
14	75783325	C	CA	T75783327A	TTLL5	NM_015072.5(TTLL5):c.2782dup:p.Met928fs	coding	Pathogenic
14	75820008	TAACA	T	A75820012C	TTLL5	NM_015072.5(TTLL5):c.3177_3180del:p.Thr1059_Asn1060insTer	coding	Pathogenic
14	75863732	CA	C	A75863733G	TTLL5	NM_015072.5(TTLL5):c.3393del:p.Val1133fs	coding	Pathogenic
14	75963357	ACC	A	C75963362T	TGFB3	NM_003239.4(TGFB3):c.883_884del:p.Gly295fs	coding	Pathogenic
14	75965637	AT	A	T75965639G	TGFB3	NM_003239.4(TGFB3):c.704del:p.Asn235fs	coding	Pathogenic
14	75980572	A	AT	A75980576T	TGFB3	NM_003239.4(TGFB3):c.321dup:p.Phe108fs	coding	Pathogenic
14	75980722	CA	C	A75980723G	TGFB3	NM_003239.5(TGFB3):c.171del:p.Glu58fs	coding	Pathogenic
14	75988986	T	TA	G75988996A	IFT43	NM_052873.3(IFT43):c.147+18dup	noncoding	Benign
14	76082606	CT	C	T76082609C	IFT43	NM_052873.3(IFT43):c.384-8del	noncoding	Benign
14	77025657	G	GAC	G77025658A	IRF2BPL	NM_024496.4(IRF2BPL):c.2135_2136insGT:p.Leu713fs	coding	Pathogenic
14	77026830	TG	T	G77026831C	IRF2BPL	NM_024496.4(IRF2BPL):c.962del:p.Ala321fs	coding	Pathogenic
14	77027184	TGTTGGTTTGG	T	T77027186G	IRF2BPL	NM_024496.4(IRF2BPL):c.599_608del:p.Pro200fs	coding	Pathogenic
14	77027472	TTGCTGTTGCTGTTGCGCGGCGGCGGCGGCGGCCGCCGC	T	T77027478C	IRF2BPL	NM_024496.4(IRF2BPL):c.283_320del:p.Ala95fs	coding	Pathogenic
14	77027500	GCGGCCGCCGCTGCTGCCGCCGCCGCCGCCGCTTCCTTAGCCGACA	CCGGG	G77027500C	IRF2BPL	NM_024496.4(IRF2BPL):c.248_293delinsCCCGG:p.Leu83fs	coding	Pathogenic
14	77280458	G	GT	C77280461T	POMT2	NM_013382.5(POMT2):c.1658dup:p.Asn553fs	coding	Pathogenic
14	77283874	CTAGG	TCA	C77283874T	POMT2	NM_013382.5(POMT2):c.1577-5_1577-1delinsTGA	noncoding	Pathogenic
14	77286782	T	TG	C77286788G	POMT2	NM_013382.5(POMT2):c.1293dup:p.Met432fs	coding	Pathogenic
14	77286814	CG	C	G77286817A	POMT2	NM_013382.5(POMT2):c.1261del:p.Arg421fs	coding	Pathogenic
14	77291372	G	GGT	G77291376T	POMT2	NM_013382.5(POMT2):c.1123_1124dup:p.Tyr376fs	coding	Pathogenic
14	77296228	GCCATCCG	C	G77296228C	POMT2	NM_013382.5(POMT2):c.1045_1052delinsG:p.Arg349fs	coding	Pathogenic
14	77298687	AC	A	C77298688G	POMT2	NM_013382.5(POMT2):c.1006+1del	noncoding	Pathogenic
14	77301114	CA	C	A77301115G	POMT2	NM_013382.7(POMT2):c.791del:p.Leu264fs	coding	Pathogenic
14	77301227	AC	A	C77301229A	POMT2	NM_013382.5(POMT2):c.678del:p.Trp226fs	coding	Pathogenic
14	77301232	CA	C	A77301233G	POMT2	NM_013382.5(POMT2):c.673del:p.Trp225fs	coding	Pathogenic
14	77301233	AG	A	G77301238C	POMT2	NM_013382.5(POMT2):c.672del:p.Trp225fs	coding	Pathogenic
14	77441074	CTTCTG	C	G77441079A	VIPAS39	NM_022067.4(VIPAS39):c.749_753del:p.Thr250fs	coding	Pathogenic
14	77454082	AT	A	T77454083C	VIPAS39	NM_022067.4(VIPAS39):c.20del:p.Asp7fs	coding	Pathogenic
14	77507610	G	GCA	T77507611C	SPTLC2	NM_004863.3(SPTLC2):c.*4673_*4674insTG	noncoding	Benign
14	77508194	AT	A	T77508199G	SPTLC2	NM_004863.3(SPTLC2):c.*4089del	noncoding	Benign
14	77509371	TCTC	T	C77509374A	SPTLC2	NM_004863.3(SPTLC2):c.*2910_*2912del	noncoding	Benign
14	77509564	CAG	C	A77509567T	SPTLC2	NM_004863.3(SPTLC2):c.*2718_*2719delCT	noncoding	Benign
14	77570556	AG	A	G77570557A	SPTLC2	NM_004863.3(SPTLC2):c.632-49del	noncoding	Benign
14	77576636	GC	G	C77576637A	SPTLC2	NM_004863.3(SPTLC2):c.631+130del	noncoding	Benign
14	77616457	GGCGGCT	G	G77616472A	SPTLC2	NM_004863.3(SPTLC2):c.117_122del	coding	Benign/Likely_benign
14	81108343	T	TTCTC	T81108357C	TSHR	NM_000369.5(TSHR):c.615-31TC[8]	noncoding	Benign
14	81143925	GC	AT	G81143925A	TSHR	NM_000369.5(TSHR):c.1867_1868delinsAT:p.Ala623Ile	coding	Pathogenic
14	87933543	TATC	T	A87933544T	GALC	NM_000153.4(GALC):c.*1186_*1188del	noncoding	Benign
14	87939915	AACGTG	A	C87939917G	GALC	NM_000153.4(GALC):c.1896_1900del:p.Thr633fs	coding	Pathogenic/Likely_pathogenic
14	87941414	G	GT	A87941416T	GALC	NM_000153.4(GALC):c.1814dup:p.Tyr605Ter	coding	Pathogenic/Likely_pathogenic
14	87947725	CACCA	C	C87947728A	GALC	NM_000153.4(GALC):c.1488_1489+2del	noncoding	Pathogenic
14	87947744	CT	C	T87947746A	GALC	NM_000153.4(GALC):c.1472del:p.Lys491fs	coding	Pathogenic
14	87947817	G	GT	G87947819T	GALC	NM_000153.4(GALC):c.1399dup:p.Thr467fs	coding	Pathogenic
14	87949846	CAT	C	T87949848G	GALC	NM_000153.4(GALC):c.1335_1336del:p.Trp446fs	coding	Pathogenic
14	87963460	CCAACTGTCTT	C	A87963463G	GALC	NM_000153.4(GALC):c.1075_1084del:p.Lys359fs	coding	Pathogenic
14	87965565	TC	T	C87965566A	GALC	NM_000153.4(GALC):c.972del:p.Leu324_Met325insTer	coding	Pathogenic/Likely_pathogenic
14	87965582	TA	T	A87965584G	GALC	NM_000153.4(GALC):c.955del:p.Tyr319fs	coding	Pathogenic/Likely_pathogenic
14	87965594	TC	T	C87965595A	GALC	NM_000153.4(GALC):c.943del:p.Glu315fs	coding	Pathogenic
14	87976435	T	TG	C87976437G	GALC	NM_000153.4(GALC):c.674dup:p.Ser226fs	coding	Pathogenic
14	87986497	G	GT	A87986499T	GALC	NM_000153.4(GALC):c.433dup:p.Thr145fs	coding	Pathogenic/Likely_pathogenic
14	87986500	AT	A	T87986501A	GALC	NM_000153.4(GALC):c.430del:p.Ile144fs	coding	Pathogenic
14	87988474	A	ATC	G87988478C	GALC	NM_000153.3(GALC):c.243_244dup:p.Ile82Argfs	coding	Pathogenic/Likely_pathogenic
14	87988508	G	GA	G87988511A	GALC	NM_000153.4(GALC):c.210dup:p.Leu71fs	coding	Pathogenic
14	87988525	TA	T	A87988535G	GALC	NM_000153.4(GALC):c.196-3del	noncoding	Benign
14	87993009	GC	G	C87993012A	GALC	NM_000153.4(GALC):c.155del:p.Gly52fs	coding	Pathogenic/Likely_pathogenic
14	88385823	ATGGCAGCCGGAGAGGTAAAGGGCAGC	A	G88385826T	SPATA7	NM_018418.5(SPATA7):c.8_19+14del	coding	Pathogenic
14	88385935	TG	T	G88385939C	SPATA7	NM_018418.5(SPATA7):c.19+102del	noncoding	Benign
14	88391378	AAGTC	A	T88391381A	SPATA7	NM_018418.4(SPATA7):c.20_23del:p.Val7Glufs	noncoding	Benign
14	88393408	CCTCTT	C	T88393413C	SPATA7	NM_018418.5(SPATA7):c.115_119del:p.Ser39fs	coding	Pathogenic
14	88426555	CTT	C	T88426558C	SPATA7	NM_018418.5(SPATA7):c.699_700del:p.Phe233_Ser234insTer	coding	Pathogenic
14	88427685	AAC	A	C88427687T	SPATA7	NM_018418.5(SPATA7):c.903_904del:p.Ile302fs	coding	Pathogenic
14	88429394	T	TA	C88429396A	SPATA7	NM_018418.5(SPATA7):c.960dup:p.Pro321fs	coding	Pathogenic
14	88433152	ATC	A	C88433154G	SPATA7	NM_018418.5(SPATA7):c.1102_1103del:p.Leu368fs	coding	Pathogenic/Likely_pathogenic
14	88433176	CAG	C	G88433178T	SPATA7	NM_018418.5(SPATA7):c.1126_1127del:p.Thr375_Asp376insTer	coding	Pathogenic
14	88437580	AAT	A	T88437582A	SPATA7	NM_018418.5(SPATA7):c.1200_1201del:p.Asn400fs	coding	Pathogenic
14	88437994	GT	G	T88437995A	SPATA7	NM_018418.5(SPATA7):c.1373del:p.Val458fs	coding	Pathogenic
14	88438015	CA	C	A88438017C	SPATA7	NM_018418.5(SPATA7):c.1395del:p.Gln465fs	coding	Pathogenic
14	88610947	ATTCAAATTCGTTTTTCTCATGTCAG	A	G88610957T	ZC3H14	NM_024824.5(ZC3H14):c.2204+17_2204+41del	noncoding	Benign
14	88620934	T	TA	G88620952A	EML5	NM_024824.5(ZC3H14):c.*9200dup	noncoding	Benign
14	88843813	TTGAGTA	T	G88843815A	TTC8	NM_144596.4(TTC8):c.589_594del:p.Glu197_Tyr198del	coding	Pathogenic
14	88870199	GTGC	G	T88870200A	TTC8	NM_144596.3(TTC8):c.1049+2_1049+4del	noncoding	Pathogenic
14	89955920	G	GGCC	A89955928C	TDP1	NM_018319.3(TDP1):c.-276_-274dupCCG	noncoding	Benign
14	90043748	CA	C	A90043751T	TDP1	NM_018319.4(TDP1):c.*608del	noncoding	Benign
14	91234215	CAGTTGAAGCTGGTGAGCAGGAGGGAGAAGTGGTAGGCGTTGAAAACGCCCTTGGCGAAGTCGCAGCTGGCCTCCCAGACGCTGCGCACCAGCAGCAACACGTGGTAGGGCAGGAAGCAGGCCAGGAAGATGACCACGGTGCTGAGCACCAGCCGCTGGATCTGGTCCTTGCGGCTCTTCTGGGTGCCGTGGCTCCGGCGCACGGCGCGCAGGATGCCCTGGTAGGACGCCAGCAGCAGGCAGATGGGGAAGAGGAAGCCCACCAGGAAGCGGTAGTAGTTGATGGCGCGCTGCCATGCCTGGATGGGGTAGTGCTCAAAGCACACGCGGTGCTGGTTCTCGTCCTCGATGACCTCCTCGTGCATCAGGAAGTAGATGCTGGTCAGCAGCTCCTTGGCCCAGATGACCACGCTGACGCCGACGGCCGCCTTCAGGGTCCGGAACTGGTGGA	C	T91234218C	GPR68	NM_001177676.2(GPR68):c.386_835del:p.Phe129_Asn278del	coding	Pathogenic
14	91234382	CTT	C	T91234383G	GPR68	NM_001177676.2(GPR68):c.667_668del:p.Lys223fs	coding	Pathogenic
14	91272869	CCT	C	C91272870G	CCDC88C	NM_001080414.4(CCDC88C):c.5841_5842del:p.Glu1949fs	coding	Pathogenic
14	91273445	CTG	C	T91273446A	CCDC88C	NM_001080414.4(CCDC88C):c.5265_5266del:p.Phe1755fs	coding	Pathogenic
14	91408673	T	TA	T91408676A	CCDC88C	NM_001080414.4(CCDC88C):c.255dup:p.Lys86Ter	coding	Pathogenic
14	91870368	ACT	A	C91870369G	FBLN5	NM_006329.3(FBLN5):c.1201_1202del:p.Ser401fs	coding	Pathogenic
14	91999313	CCTCT	C	C91999316A	TRIP11	NM_004239.4(TRIP11):c.4813_4814AG[1]:p.Glu1606fs	coding	Pathogenic
14	92004498	GA	G	A92004500T	TRIP11	NM_004239.4(TRIP11):c.3477del:p.Gln1160fs	coding	Pathogenic
14	92004622	TTC	T	C92004624G	TRIP11	NM_004239.4(TRIP11):c.3352_3353del:p.Glu1118fs	coding	Pathogenic
14	92004981	CTT	C	T92004984G	TRIP11	NM_004239.4(TRIP11):c.2993_2994del:p.Lys998fs	coding	Pathogenic
14	92005668	TTTGA	T	T92005673G	TRIP11	NM_004239.4(TRIP11):c.2300_2303TCAA[1]:p.Asn768fs	coding	Pathogenic
14	92005846	AAT	A	T92005848G	TRIP11	NM_004239.4(TRIP11):c.2128_2129del:p.Ile710fs	coding	Pathogenic
14	92006353	CT	C	T92006360C	TRIP11	NM_004239.4(TRIP11):c.1622del:p.Lys541fs	coding	Pathogenic
14	92014411	ATC	A	C92014415G	TRIP11	NM_004239.4(TRIP11):c.986_987GA[1]:p.Asp330fs	coding	Pathogenic
14	92017720	CAG	C	A92017723T	TRIP11	NM_004239.4(TRIP11):c.615_616CT[1]:p.Asn205_Ser206insTer	coding	Pathogenic
14	92039604	C	CA	G92039606A	TRIP11	NM_004239.4(TRIP11):c.81dup:p.Gly28fs	coding	Pathogenic
14	92071010	C	CCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG	T92071035C	ATXN3	NM_004993.6(ATXN3):c.892_894CAG[18]:p.Gln296_Gln305dup	coding	Benign
14	92071010	C	CCTGCTGCTGCTG	T92071035C	ATXN3	NM_004993.6(ATXN3):c.892CAG[12]:p.Gln302_Gln305dup	coding	Benign
14	92071010	C	CCTGCTG	T92071035C	ATXN3	NM_004993.6(ATXN3):c.892_894CAG[10]:p.Gln304_Gln305dup	coding	Benign
14	92071035	T	TTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGC	T92071043G	ATXN3	NM_004993.5(ATXN3):c.886_888CAG(12_44):p.Gln305_Gly306insGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGln	coding	Benign
14	92071035	T	TTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGC	T92071043G	ATXN3	NM_004993.5(ATXN3):c.886_888CAG(60_86):p.Gln305_Gly306insGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGln	coding	Pathogenic
14	93246298	TA	T	A93246313G	BTBD7	NM_001002860.4(BTBD7):c.2122-13del	noncoding	Benign
14	94115784	T	TGGCCATGGC	T94115797C	IFI27	NM_001288959.2(IFI27):c.-1_8dup:p.Met1_Ala3dup	coding	Benign
14	94378547	C	CG	A94378555G	SERPINA1	NM_000295.5(SERPINA1):c.1158dup:p.Glu387fs	coding	Pathogenic/Likely_pathogenic
14	94378547	CG	C	G94378554A	SERPINA1	NM_000295.5(SERPINA1):c.1158del:p.Glu387fs	coding	Pathogenic
14	94378575	T	TA	C94378581A	SERPINA1	NM_000295.5(SERPINA1):c.1130dup:p.Leu377fs	coding	Pathogenic
14	94378591	GCAGCTTC	TGTTTTT	G94378591T	SERPINA1	NM_000295.5(SERPINA1):c.1108_1115delinsAAAAACA:p.Glu370fs	coding	Pathogenic
14	94378632	ATG	A	T94378633C	SERPINA1	NM_000295.5(SERPINA1):c.1072_1073del:p.Val357_His358insTer	coding	Pathogenic
14	94378639	GCCTGGAGGGGAGAGAAGCAGAGACACGTTGTAAGGCTGATCCCAGGCCTCGAGCAAGGCTCACGTGGACACCTCCCAGGAAGCGCTCACTCCCCCTGGACGGCCCTGGCCCTGCACATCCTCTCCCTCCCTGTCACATAGGCCTTGCTCCTCCTCAAGGCTTTGGCTGATGGGGCTGGCTCCCCTCTGTCCATCTTCCTGACAAGCGCCTCTCCCCCTGCTCAGGTGCACCCACAACTCAGAACAGGGAAGAGCATCGTCACTCCACGTCTGCCTCCAGGGCTCTCTCCTTTCTAGTACACGGCTTGAAGCTCCTTGAGGACACGGACCCTGGCAGTGACCTTCACAGTGCCCAGACCCCAAGATAATGCAGCCATTCATGGAACTGCAGTTGTTCATTGGTCGCCTTTAGTTTTCCAAAATAAGTGTCATCTTTAGCTGAAATCATTCATTAATTCAGACACCAAATCTCACAGATCGAAGGAGTCAGAAATTCCTTTGAAACAACTTAGCCCAAACCTTTCTGTGTCAGTATGGATAAATCAAGGCCCAATGTCTAGAAGGTCTTGGGCAAAGTTGAAATTCAGGGTCAGTGACACAACCTCAAGGGAGGCCCCGAAAGTGCCAGCTGCACAGCAGTCCCCTGCCTGGCTTTGCTGTTTGACCACGTCCCGTGTCAGTGAATCACGGGCATCTTCAGGAGCTCAGCCTGGGTCTTCATTTGTTTCCCTCGGCCCCTTCCTCAGCCTCAGGACAGAGCTGCAGCCCCCACACATTCTTCCCTACAGATACCAGGGTGCAACAAGGTCGTCAGGGTGATCTCA	G	G94378643T	SERPINA1	NM_000295.5(SERPINA1):c.1064_1066=:p.Lys355_Ala356=	coding	Pathogenic
14	94380921	A	AT	C94380926T	SERPINA1	NM_000295.5(SERPINA1):c.866dup:p.Asn289fs	coding	Pathogenic
14	94381140	GC	G	C94381142T	SERPINA1	NM_001127701.1(SERPINA1):c.647-1delG	coding	Pathogenic
14	94382652	AA	T	A94382652T	SERPINA1	NM_000295.5(SERPINA1):c.585_586delinsA:p.Asp195fs	coding	Pathogenic
14	94382946	CGTGA	C	A94382950T	SERPINA1	NM_000295.5(SERPINA1):c.288_291del:p.His97fs	coding	Pathogenic
14	94383008	GAGA	G	A94383015T	SERPINA1	NM_000295.5(SERPINA1):c.221_223TCT[2]:p.Phe76del	coding	Pathogenic
14	94383236	AT	A	T94383238G	SERPINA1	NM_000295.5(SERPINA1):c.1del:p.Met1fs	coding	Pathogenic
14	94769803	GGCCGGGAGGCCCGCGCC	G	A94769810G	GSC	NM_173849.2(GSC):c.196_212del:p.Gly66fs	coding	Pathogenic
14	94769867	G	GCGC	T94769877C	GSC	NC_000014.9:g.94769868_94769870CGC[4]	coding	Benign
14	95088118	A	AT	C95088124T	DICER1	NM_030621.4(DICER1):c.*2379dup	noncoding	Benign
14	95088778	GCA	G	C95088781G	DICER1	NM_030621.4(DICER1):c.*1716_*1717TG[1]	noncoding	Benign
14	95089049	C	CA	T95089063A	DICER1	NM_030621.4(DICER1):c.*1448dup	noncoding	Benign
14	95091222	GGGAT	G	G95091223A	DICER1	NM_001195573.1(DICER1):c.5365-117_5365-114del	coding	Pathogenic
14	95091292	TC	GA	T95091292G	DICER1	NM_177438.3(DICER1):c.5437_5438inv:p.Glu1813Ser	coding	Pathogenic
14	95091297	A	AATATCCCCC	G95091309A	DICER1	NM_001195573.1(DICER1):c.5365-197_5365-189dup	coding	Pathogenic
14	95091302	CC	AA	C95091302A	DICER1	NM_177438.3(DICER1):c.5427_5428delinsTT:p.Asp1810Tyr	coding	Pathogenic
14	95091332	CTT	C	T95091333C	DICER1	NM_177438.3(DICER1):c.5396_5397del:p.Glu1799fs	coding	Pathogenic
14	95091335	CT	C	T95091338C	DICER1	NM_001195573.1(DICER1):c.5365-227del	coding	Pathogenic
14	95092853	ACTTGGAAGTCTACGAGCTGGTCCCGCCTTCTCGCCTCACAGCCTGCCACGCTCCAGCTCAGGCTGTTCATCTTGGACAAGAGCACAGAGGCGCGTTAAAGTAAGAGCAGGGCCTACTGACTCCTCCAGTGCACATCTGGGCAGCTGGCAGGGCGTGAACTCGGCTCTGCGGCTAGACTTCAAACCTACTCTTAATTTTTGTCATAGAAAGTCACTACTCCCCAACAAAGGTTTGGTGCAATTAAAAAGGGGAAGGTACAAATTAAAGCAATGACAACTAAAACAGCTACTAGTATTAAGGTTGTATTTCCTGACTCCTTATAAGAAAATCTACAAAAATAAGAAAATCAAAGGAAATGAAATGGGAAGAGGAGGAAATGAGAGTCTCTCTGGGGGACACAGGTATGCAGATGAATGTTAAGAGACTGGAAAGATCTAAGCAATATCCTTTCCTACAAAAATTCGAAATAGCTCACAAACACATTAGAATTAGCTCTGTCACCAGACAGCCTTTGGCTGAACTTACAATAGAAGCCTCCCAAATTCCAATGGTCAAAAATTTAGAAGTTTGTTTTTTAAATTAGATTTTCCCACTTCAAGTAGAAGCAGAATGTATATTTATGATGCTTCCCTGAGATATTAGCAAATATTTCTGATCCATTTAAAAAAGGAAGGATAAGCTACACTGGGCTTTTACTAAAGCTAAACCTGCCTTGGGGTCCGGCAGTGGAGGCCACTTCTTTGGCATGCCTCAATGCTGGAAGCCCTCATGAAGGCGTGGGAAGGGTACCTAACTGAAAGGCCTGGTTCCTTCTCTTCACCTGAATGACCACACAGCCCACAGTGGGGGCAGACAAGTTCAAGAGGCCTACCTGCAAACTGCAGTTCACTCGTGCTCCCACAGAACACAGCACACTGGGTCCCACACCCCTGACCTCCTGCTGTCCCTTTAGACCACTATGCCGTCAGAACTCTGAAACTACAGAGACTCCTAGTTAGACCACTTTTTTCAACATCGTTTTGAACAGCACTAACCTCAGAATCCATTCCTTGCATTTCATTCTTCTCAAGCTGAAACTGCACAAAGTCATCAATGACATGGAAGAGCTCAGGAGAGACAGCTTTGAAGTACTTGTGGTAGTCGTACTTTACAGCCAGCGATGCAAAGATGGTGTTGTTGACCAGGGCAGACCGCAGGTCTGTCAGGACCCCCGGGGAGTGCTGCCGCGGGTCTTCATAAAGGTGCTTGGTTATGAGGTAGTCCAAAATCGCATCTCCCAGGAATTCTAAGCGCTGGTAACAATCTGAGGGGATCCGAAGTGGAACCGTAAGCTTGTGCAGAAGCATTTACACTATCCCCACATAGCAACTGATCCCCAAATCCGAAGAAGATTTGTATTTACAATCATTTTCATACATATATTCTTCAAAAAGGATATCTGACATATCATACTAAAAAGCCTCTGGAAACTAAATTTTAATGACAAATTAAGTACATTTCTTATATAAACTGGGGTCATAAAATCTTCAAGTGGTCAAAAGACTAACGCTTGTTAAGAAGGAAAAACAAAACCTCACAGGTGCTATCATGATCACTGAATGCTTTTCTCTGGCACTGTGCTGTCTGGGCAGGTGCTGGGGCCTTCCTCTCGAGTCTCCCTCACACATCATCACTTAAGTGAAACCAGGGCCGCACACACCTCTCCATGTGGCTACACTGTGCTGCCATCGCTAAAGTCTCATTCACACTCTGGAATCTGTGCATAAGTGATACCATTCCTCACTATTCCTGGGCTATTTTTGTTACACAGGATGACAGGAAAAGAAGACCCTCTTCTTAACTTGAGCTATTATAGAAATGAATTTACCACAAACCAAGAGATTGAGAAAGAAGAGTTGTGAAAGGGAGCAAAGGCAGGTAAACTGGTTGTCAAAATGTGAAAATGATCAATGTTAAATCAACACCTCTATTTTCTCACAGTGATTAAAATAATATATCCAGCTGAGGAAACTGAGGCAGGGACCGATGGTGACTTGTCCCAGAATAAGCAAGGAATTAAGAAGCAGGGACTGCTAGGCGAGAACCCAGGTCTCGGAACTTCCAGCAGAATGTAGTCGAAAGCCACGTATCATTTTTCCTCCATAACGAAAATTAGGCTTTAGTTTCATCAGTCTTTCCAGTCCAGAGTCAGATAGTTTTTCACTTTTTGGTTTTTACATTTTGCTGATCACCTTAACCTACGCTGCTTTTATTATATAAACTACAAACTTTATACTTTGCTTTGGTGTTCTGAATTCAGGCACTTATTTTTCTGATACAGAAATTGAAATGTAAACTTCAGCTGTGTTTCACAGCCTGAAGCTGATTTGGGTGTGAGGGGCTTGTTCTCCCTTCTAATCTAATGGGTTGACAGTCTATTAAAAGAGGGGCAAATACAGAGCACAGTGAGAAGTAGAAGATGACAGCAGAGTCACAGCAAGGGCCACGCAACCTTCTTGTGAAATCATTGCTTTTAATCTTTTAATCTATCCATCTTTAAAAAGACCCTAAAGGAGGGGTCTTTTTGTCCAGGAAGAACAATAAAAGGCTGTGGAAATACATCCAGAATATACAACTAAATCAAAAACCAAAAGCAGCACTGAATGGGCAAGAGAAAGATATTTGCGGAGGATAAAATGGGGAAAACACATCAAAATACTAAGGTTAAAATTTCTCTAATTAGGCAGATATAAAATGACACTGATGAGGGTATATGATAGCCATACTCCCAACAACCAAAGTTATAAAGCAATACGTGCTCCCCAAATAACAAGGAAAAGAATTCTTTCTATTCCTTTTGTTCCCCGCCCCATCCCTTGAATATTAAGCATGAACACTGTACATGCATAGATCACTTTTACAAGGCCAACACGATGAGATCAACACAAAGTCTCATTTTCCCAGAAATGAAGTCTGGTCGTGGGCTCCTTACCAGTGATAGTATTGTAGTGGTAGGAGGCATGTGTAAAAGCCTGGAGAAGGTAAGCCTTATTCTTGAATCTGTAGTTGATTTTCTTTTCAAAATTTTCAAACCCCGATATAAGGTGATTCAGTGTTTTATCTGCATCTGGATGATCAAACATACATCTTGGTGGAATCTTCAAACAACCATATTCCGAGTCTTTCAATACAGAAGAGCGTGAACTGGCCACAGAAGCAGCAGCACAGCTCACTGAAAGGTTCTTTTGTTGGCTGTTGAAATTCTCCCGAGTAGGGCACAGGGCCTTTTCCCGATCAGTCCTTTTAATTACCGGGAGCACCTTCAGCCCCAGTGAACAGAGGAAAAGCTGAGCAGCCCTCTCCCCACAGCTGGTTAAATAGCAGCCCAGCAGGGCTTCCACACAGTCCGCTATGCTTTTGTCAGCAATACACTGCTCAGTGTGCAAGTCGTAAGAAATGGACTGCTTTCCCGTGTCAACACCACAGTTTTCTTCTGATGGATTCCAGAACCCCACCACAAAGTCATCTTCTTCAACAGCTTTGCTAGGATCCAGATAGCACATTGCATCCCAAGAGCTGTAGTCAAAATCCTCAAAATCTGATGAAAATGGCATACTACCTAAGGAGGATTTTTTGGGCATTTTCCATTCATATGCAGAATCAGTGGTTGAAAAAGGAGAAAGAGAGATTTTCTTTACAAAAGCTCCTGACCCCATTAACATATTATCTATAAATCTGATATGTTCCTGATCATACTCCAGGAAATCATCTTCATAGTCAGCCTCTTCCTTCGGAGCCCTCCACATCAGGCTCTCCTCCTCCTCATCCTCCTCCTCGTAATCCTCATCCAGTTTGCCATTCGCCAGCATGCAGTCTTTTGTCTGAAACGAGGGGGAATGGGGAAGGAGGGGAAACATAGCTG	A	T95092856G	DICER1	NM_177438.3(DICER1):c.4207-41_5364+1034del	noncoding	Pathogenic
14	95093531	AGCTACACTGGGCTTTTACTAAAGCTAAACCTGCCTTGGGGTCCGGCAGTGGAGGCCACTTCTTTGGCATGCCTCAATGCTGGAAGCCCTCATGAAGGCGTGGGAAGGGTACCTAACTGAAAGGCCTGGTTCCTTCTCTTCACCTGAATGACCACACAGCCCACAGTGGGGGCAGACAAGTTCAAGAGGCCTACCTGCAAACTGCAGTTCACTCGTGCTCCCACAGAACACAGCACACTGGGTCCCACACCCCTGACCTCCTGCTGTCCCTTTAGACCACTATGCCGTCAGAACTCTGAAACTACAGAGACTCCTAGTTAGACCACTTTTTTCAACATCGTTTTGAACAGCACTAACCTCAGAATCCATTCCTTGCATTTCATTCTTCTCAAGCTGAAACTGCACAAAGTCATCAATGACATGGAAGAGCTCAGGAGAGACAGCTTTGAAGTACTTGTGGTAGTCGTACTTTACAGCCAGCGATGCAAAGATGGTGTTGTTGACCAGGGCAGACCGCAGGTCTGTCAGGACCCCCGGGGAGTGCTGCCGCGGGTCTTCATAAAGGTGCTTGGTTATGAGGTAGTCCAAAATCGCATCTCCCAGGAATTCTAAGCGCTGGTAACAATCTGAGGGGATCCGAAGTGGAACCGTAAGCTTGTGCAGAAGCATTTACACTATCCCCACATAGCAACTGATCCCCAAATCCGAAGAAGATTTGTATTTACAATCATTTTCATACATATATTCTTCAAAAAGGATATCTGACATATCATACTAAAAAGCCTCTGGAAACTAAATTTTAATGACAAATTAAGTACATTTCTTATATAAACTGGGGTCATAAAATCTTCAAGTGGTCAAAAGACTAACGCTTGTTAAGAAGGAAAAACAAAACCTCACAGGTGCTATCATGATCACTGAATGCTTTTCTCTGGCACTGTGCTGTCTGGGCAGGTGCTGGGGCCTTCCTCTCGAGTCTCCCTCACACATCATCACTTAAGTGAAACCAGGGCCGCACACACCTCTCCATGTGGCTACACTGTGCTGCCATCGCTAAAGTCTCATTCACACTCTGGAATCTGTGCATAAGTGATACCATTCCTCACTATTCCTGGGCTATTTTT	A	C95093533T	DICER1	NM_177438.2(DICER1):c.5096-498_5364+356del	noncoding	Pathogenic
14	95093808	CACTATGCCGTCAGAACTCTGAAACTACAGAGACTCCTAGTTAGACCACTTTTTTCAACATCGTTTTGAACAGCACTAACCTCAGAATCCATTCCTTGCATTTCATTCTTCTCAAGCTGAAACTGCACAAAGTCATCAATGACATGGAAGAGCTCAGGAGAGACAGCTTTGAAGTACTTGTGGT	C	C95093810G	DICER1	NM_030621.4(DICER1):c.5261_5364+79del	noncoding	Pathogenic
14	95093918	CT	C	T95093919C	DICER1	NM_177438.3(DICER1):c.5333del:p.Glu1778fs	coding	Pathogenic
14	95093935	CAA	C	A95093937G	DICER1	NM_177438.2(DICER1):c.5315_5316del:p.Phe1772fs	coding	Pathogenic
14	95093952	TG	T	G95093954A	DICER1	NM_030621.4(DICER1):c.5299del:p.His1767fs	coding	Pathogenic
14	95093996	GTACTT	G	T95094000A	DICER1	NM_030621.4(DICER1):c.5251_5255del:p.Lys1751fs	coding	Pathogenic
14	95094004	C	CA	G95094006A	DICER1	NM_177438.3(DICER1):c.5247dup:p.Val1750fs	coding	Pathogenic
14	95094016	CAA	C	A95094018G	DICER1	NM_177438.3(DICER1):c.5234_5235del:p.Phe1745fs	coding	Pathogenic
14	95094016	CA	C	A95094019G	DICER1	NM_030621.4(DICER1):c.5235del:p.Phe1745fs	coding	Pathogenic
14	95094057	A	AG	A95094060G	DICER1	NM_030621.4(DICER1):c.5194dup:p.Leu1732fs	coding	Pathogenic
14	95094123	GCATCTCC	G	T95094126G	DICER1	NM_177438.3(DICER1):c.5122_5128del:p.Gly1708fs	coding	Pathogenic
14	95094126	TC	CA	T95094126C	DICER1	NM_177438.3(DICER1):c.5125_5126delinsTG:p.Asp1709Cys	coding	Pathogenic
14	95095857	G	GT	A95095859T	DICER1	NM_177438.3(DICER1):c.5062dup:p.Thr1688fs	coding	Pathogenic
14	95095895	GTA	CT	G95095895C	DICER1	NM_177438.3(DICER1):c.5023_5025delinsAG:p.Tyr1675fs	coding	Pathogenic
14	95095898	GTTGA	G	G95095901T	DICER1	NM_177438.3(DICER1):c.5018_5021del:p.Ile1673fs	coding	Pathogenic
14	95095902	A	AT	C95095907T	DICER1	NM_177438.3(DICER1):c.5017dup:p.Ile1673fs	coding	Pathogenic
14	95095935	AG	A	G95095937T	DICER1	NM_177438.2(DICER1):c.4984del:p.Ile1663fs	coding	Pathogenic
14	95095958	A	ATC	G95095962C	DICER1	NM_030621.4(DICER1):c.4960_4961dup:p.Asp1654fs	coding	Pathogenic
14	95095993	TCAAA	T	A95095997C	DICER1	NM_030621.4(DICER1):c.4923_4926del:p.Gly1640_Cys1641insTer	coding	Pathogenic
14	95096157	AG	A	G95096158C	DICER1	NM_030621.4(DICER1):c.4762del:p.Gly1587_Leu1588insTer	coding	Pathogenic
14	95096235	C	CG	A95096236G	DICER1	NM_177438.3(DICER1):c.4684_4685insC:p.Cys1562fs	coding	Pathogenic
14	95096247	CTT	C	T95096250G	DICER1	NM_177438.3(DICER1):c.4671_4672del:p.Ser1558fs	coding	Pathogenic
14	95096262	C	CA	C95096264A	DICER1	NM_030621.4(DICER1):c.4657dup:p.Cys1553fs	coding	Pathogenic
14	95096268	T	TAGCA	C95096269A	DICER1	NM_177438.3(DICER1):c.4651_4652insTGCT:p.Glu1551fs	coding	Pathogenic
14	95096282	G	GT	A95096284T	DICER1	NM_030621.4(DICER1):c.4637dup:p.Tyr1546Ter	coding	Pathogenic
14	95096282	GTA	TC	G95096282T	DICER1	NM_177438.3(DICER1):c.4636_4638delinsGA:p.Tyr1546fs	coding	Pathogenic
14	95096286	G	GA	T95096290A	DICER1	NM_177438.2(DICER1):c.4633dup:p.Ser1545fs	coding	Pathogenic/Likely_pathogenic
14	95096293	AC	A	C95096294T	DICER1	NM_030621.4(DICER1):c.4626del:p.Gln1542fs	coding	Pathogenic
14	95096313	CCA	C	C95096316G	DICER1	NM_177438.3(DICER1):c.4605_4606del:p.Cys1535fs	coding	Pathogenic
14	95096349	A	ACAAAG	T95096355C	DICER1	NM_177438.3(DICER1):c.4566_4570dup:p.Val1524fs	coding	Pathogenic
14	95096364	TC	T	C95096365A	DICER1	NM_030621.4(DICER1):c.4555del:p.Glu1519fs	coding	Pathogenic
14	95096408	GC	G	C95096409T	DICER1	NM_030621.4(DICER1):c.4511del:p.Ser1504fs	coding	Pathogenic
14	95096461	A	AT	G95096468T	DICER1	NM_030621.4(DICER1):c.4458dup:p.Ser1487fs	coding	Pathogenic/Likely_pathogenic
14	95096461	AT	A	T95096467G	DICER1	NM_177438.3(DICER1):c.4458del:p.Lys1486fs	coding	Pathogenic
14	95096477	C	CCAT	T95096481C	DICER1	NM_177438.3(DICER1):c.4440_4442dup:p.Trp1481Ter	coding	Pathogenic
14	95096493	T	TA	C95096494A	DICER1	NM_177438.2(DICER1):c.4426_4427insT:p.Asp1476fs	coding	Pathogenic
14	95096509	GAGAA	G	A95096513G	DICER1	NM_177438.2(DICER1):c.4407_4410del:p.Ser1470fs	coding	Pathogenic
14	95096511	GAA	G	A95096513G	DICER1	NM_030621.4(DICER1):c.4407_4408del:p.Pro1471fs	coding	Pathogenic
14	95096513	AAG	A	G95096519T	DICER1	NM_177438.3(DICER1):c.4401_4402CT[2]:p.Leu1469fs	coding	Pathogenic/Likely_pathogenic
14	95096513	AAGAG	A	G95096517T	DICER1	NM_177438.3(DICER1):c.4401_4402CT[1]:p.Ser1468fs	coding	Pathogenic
14	95096570	GAT	G	A95096573G	DICER1	NM_177438.3(DICER1):c.4346_4347AT[1]:p.Ile1450fs	coding	Pathogenic
14	95096607	TAGTC	T	T95096610C	DICER1	NM_030621.4(DICER1):c.4309_4312del:p.Asp1437fs	coding	Pathogenic
14	95096634	CA	C	A95096635C	DICER1	NM_030621.4(DICER1):c.4285del:p.Trp1429fs	coding	Pathogenic
14	95096655	T	TC	A95096657C	DICER1	NM_030621.4(DICER1):c.4264dup:p.Glu1422fs	coding	Pathogenic
14	95096657	ATCC	A	C95096666G	DICER1	NM_177438.3(DICER1):c.4254_4256GGA[2]:p.Glu1420del	coding	Benign/Likely_benign
14	95096707	CT	C	T95096711G	DICER1	NM_030621.4(DICER1):c.4212del:p.Asp1405fs	coding	Pathogenic
14	95099731	TACACACACAC	T	C95099763A	DICER1	NM_177438.3(DICER1):c.4206+9GT[15]	noncoding	Benign
14	95099752	ACACACACACACACACACAC	A	C95099753A	DICER1	NM_177438.2(DICER1):c.4206+9_4206+27del	noncoding	Benign
14	95099754	ACACACACACACACACAC	A	C95099755A	DICER1	NM_030621.4(DICER1):c.4206+9_4206+25del	noncoding	Benign
14	95099756	ACACACACACACACAC	A	C95099757A	DICER1	NM_177438.2(DICER1):c.4206+9_4206+23del	noncoding	Benign
14	95099758	ACACACACACACAC	A	C95099759A	DICER1	NM_177438.2(DICER1):c.4206+9_4206+21del	noncoding	Benign
14	95099760	ACACACACACAC	A	C95099761A	DICER1	NM_177438.2(DICER1):c.4206+9_4206+19del	noncoding	Benign
14	95099762	ACACACACAC	A	C95099763A	DICER1	NM_177438.2(DICER1):c.4206+9_4206+17del	noncoding	Benign
14	95099764	ACACACAC	A	C95099765A	DICER1	NM_177438.2(DICER1):c.4206+9_4206+15del	noncoding	Benign
14	95099768	AC	A	C95099769A	DICER1	NM_177438.2(DICER1):c.4206+11del	noncoding	Benign
14	95099768	ACAC	A	C95099769A	DICER1	NM_030621.4(DICER1):c.4206+9_4206+11del	noncoding	Benign/Likely_benign
14	95099771	C	CAA	C95099775A	DICER1	NM_030621.4(DICER1):c.4206+6_4206+7dup	noncoding	Benign
14	95099771	C	CACAA	A95099773C	DICER1	NM_177438.2(DICER1):c.4206+8_4206+9insTTTG	noncoding	Benign
14	95099771	C	CACACAA	A95099773C	DICER1	NM_177438.2(DICER1):c.4206+8_4206+9insTTTGTG	noncoding	Benign
14	95099771	C	CACACACAA	A95099773C	DICER1	NM_177438.2(DICER1):c.4206+8_4206+9insTTTGTGTG	noncoding	Benign
14	95099771	C	CACACACACAA	A95099773C	DICER1	NM_177438.2(DICER1):c.4206+8_4206+9insTTTGTGTGTG	noncoding	Benign
14	95099771	C	CACACACACACAA	A95099773C	DICER1	NM_177438.2(DICER1):c.4206+8_4206+9insTTTGTGTGTGTG	noncoding	Benign
14	95099771	C	CACACACACACACACAA	A95099773C	DICER1	NM_177438.2(DICER1):c.4206+8_4206+9insTTTGTGTGTGTGTGTG	noncoding	Benign
14	95099855	AG	A	G95099860A	DICER1	NM_030621.4(DICER1):c.4130del:p.Pro1377fs	coding	Pathogenic
14	95099900	C	CT	C95099907T	DICER1	NM_030621.4(DICER1):c.4085dup:p.Lys1363fs	coding	Pathogenic
14	95099900	CT	C	T95099906C	DICER1	NM_177438.3(DICER1):c.4085del:p.Lys1362fs	coding	Pathogenic
14	95099914	G	GA	T95099916A	DICER1	NM_030621.4(DICER1):c.4071dup:p.Arg1358fs	coding	Pathogenic
14	95101215	GCTGCAAGGGGCTTCCACCTGCTTAGGATCCAAAACGCATCAGGGCTGAAAGGGCCTGAACAGCAGGCTGAGGGAGTGATCATTCTTTCTGCAGAAATAAGGAGTAGAAGGTTTCTGAGCAGACAAATGGACGAGTTTTGTAATAGAAAGTCACCTCTGTCTTGTCTAACAGAGTATCCTATCCTATTGCCTATGCCACACTTGTCCAAGCCTCTGATACTTTCTTCCTGCAACCACCTCTTGGAAATCTCATCCATTCTCAGAGCTTCCGTATGGCGACTACTCTACAAAACCGTATCTGAATCCTACAGCCTCAATTATCTGAACATTTCCACTTCATATTCCATGAGGTCTAAAATCTCAACTCTAACATGGACTTCCCACATTTCTCCCTACCTCCCTGCTACTGCCACTGCCCCCAAGTTGCCAGTTTACGTGGTTGTTATGACTGCGCCTCCAGTCCACCTCAAGATCATCCTGGGAGGCCTTGGACACACTCCTGACTCTCCCAGATGAACAGTTAGGTGACCTGACAGGAGCCCATTCGACTCTCTAAGTGTGAGTCCCCTCATCTGCAAAACAGGGATGTGTTGTCTCTTTCCCAGAGGCTTAGAGAAGAGTGAATGAGTGAGCACTTGGGAAATGCTTGGTGTGCTGCCTGGTGTGATGGTTCTATCCGGAGCAGTTAGTGTGATGGGGAAGGGGAAGGTCTCCAAAGCCAGGCTGTCTGGATTCGACCCAAGCTCTGCCACTTACTTGCCAAGTGACCTTGGGCAAGCTAACTTCTCCAGCCTATTCTCACCTATAAAATGGGGAAAATAAAAGTTTCTACCTCTCAGAATTATAAAAATTAAATTAGGTTTATATGCATATATGTGTATATATGTGGGTGTGTGTACGTGTGTGTGCGTATACGGTTATCTTTTAGAGTAGTGCAGAGTAAGCACTTTTAAATTGTTAGCTAAAATTATTTCTTCTGAAATTCTCACTCACCTCAGCCCCTTCCTCTCTACCAGAACTCTAGTTCTATCCCATTCTCTGCTTCTGCTGTTGGTTTGGATATGCTTTTCAACTCACACTACATTCTGCTACCAGATTAATCATTTTAAACTACCACTTTATTAACATTAATAGTTCCTTGCTCTAAATTCCTTCAACAGTGCCTACAACATTCAAAACACGTGCAAACTCCTTAGCCCAGCATTCAAGGCCTTCCACGATACAGCTTCACCCCAGCTGCCTTTTCAAGCCTTTTCTCAGGTATTTCCACACTTCTGACTGCTGCCACGGCTGCTTCCCTGACGCTGACATGCTCTGCCATCTGTTCACTTTGCTTATGCACTGTCAACTTGCCTCCTCCATTAATGCCATCCTTGATTCAACAGTGATGCTCCTTCCTTCTGAGTGCTGCAAGTGATCAGCAGCTTTCTAAGGTATTTGTCCAGGAGGCTCATGTTGCCTTGTGAGACTTTTTTCCATTTTTCCCCCATAACTTGAATATCTTACCTTCATTCCTTTTCTTAAGTCTTAGTCCATGCTGAGTTTAAGAGCCCGCCCTTTCTCTGAGCTATCGAGCGTTAATTACTCAGAACTCTGGTGTCACCCTCTTCACACTGGAGAGCAGCCAAGCTCTGTGAAGCTTGTTACTCTTCTCCGCTCCACTCTCCAAAACTTTGGAGATGAGCTCCTCCACAAGACTTGTGTCTTACTCATGTCTGTATGCCTTGTAAGCCAAGACGTACCCTCTCAAATAAATGTTTAACTCAACAAAGCAGAAGCTCCTTGACTGACTACAATGCACATTTCTTCATATCCCCCTCAGGATCAAGGGGTGTACACACTTGCATAGCTTCCTTTGAACTGACTTTCAATCAAAAAGTAAGGCACGTGGAGATCAGCTAAGCCCCAAAACCTGAGTGTGGGATTGGTGTAAAGCAATACTCATCAACTGCCAGGTAGTTCTGCCACAGGCTTTCGCTGGCCCTGGTAGAACAAGGGAGCAGCTGTGCTTGGCCGGTGTAGCAATTTCTGAGCATGATACGTTCTCATCCTCTGAGATTATCCAACACTGCAAACCACTTTCAGGCACACTGAATAATTAACTGCTCAAAATAAAAAAATCATCTCTTACCTTTTTGCTTCTCATATATGAAAGGCGGCCCTCATGCGCATCAGGGTAAGTGCAAAATAGATATGTGGTGATGGCATGCTTTAAAAAGGAGTCGCCAAGCATTTCAAGCCGCTCCAGGTTAAATCCATCACTAGCGTTTGACAGAGTCAAAGCCTGAAGAATAAGTCCAGGATTGGGGCCAAGAGTCCTTGAGGAGTACCCAATAGAAGGGCTCTGCTCAGAATCCATCCTGCCCTTGAGCACTTGAATAGTGTCTGTCGTACCAGGCATTACGGCCATCACAGGACTTCCATCTGAGGTAGATTTGTTAGCATTTCCATCAAGGTATTTATTACTCAGGAGAGTACATTCATCGCTGGGCTGGGGCTGGTTCTCGTAACTGTATAAATTCTGAATGGAATATGAGGTAGTTGGTTGCACGGGTATTTCCTGCTTGTAGTAATTTAGCTGATTTCCTTGGCAAAAGTCTCTGTTAGCTAAATCATAACTGCCATTGGCGAGATTTTGATTGTAAGAAAGACCATTAATTGCTGTAAGATCTGCTGAAACTTCAACGTGGAGCTTACCAGGGGACTCGCTGAGCAACGTTCTGCAGTTCACAGACATTTGGTCATGATTTTCTAGAGAGGAGGTTCTATTAGCACCTTGATGTGCAGCATTTTCAGGGACAATTGTGCTGTGCTTACAGTAATTATCATTTTCAGCTGAAGAGGAGTTAGAAATTGAGATGAAAGATTTGCTGTCAATAGATTTTTTCCACCCGAAGTCTAAGTTAGGGTATCTGCAA	C	G95101215C	DICER1	NM_177438.3(DICER1):c.3270-6_4051-1280delinsG	noncoding	Pathogenic
14	95103344	AC	A	C95103346T	DICER1	NM_177438.3(DICER1):c.4050+1del	noncoding	Pathogenic
14	95103346	CT	C	T95103351G	DICER1	NM_177438.3(DICER1):c.4049del:p.Lys1350fs	coding	Pathogenic/Likely_pathogenic
14	95103351	TG	T	G95103352C	DICER1	NM_030621.4(DICER1):c.4044del:p.Ser1348fs	coding	Pathogenic
14	95103356	CTCATA	C	C95103358A	DICER1	NM_177438.3(DICER1):c.4035_4039del:p.Tyr1345_Arg1347delinsTer	coding	Pathogenic
14	95103388	AG	A	G95103391T	DICER1	NM_177438.3(DICER1):c.4007del:p.Pro1336fs	coding	Pathogenic
14	95103391	G	GT	A95103393T	DICER1	NM_030621.4(DICER1):c.4004dup:p.Tyr1335Ter	coding	Pathogenic
14	95103405	GAT	G	A95103408G	DICER1	NM_030621.4(DICER1):c.3987_3988AT[1]:p.Tyr1330fs	coding	Pathogenic
14	95103425	TT	G	T95103425G	DICER1	NM_177438.3(DICER1):c.3970_3971delinsC:p.Lys1324fs	coding	Pathogenic
14	95103438	C	CG	C95103440G	DICER1	NM_030621.4(DICER1):c.3957dup:p.Asp1320fs	coding	Pathogenic/Likely_pathogenic
14	95103485	GAC	G	C95103487G	DICER1	NM_030621.4(DICER1):c.3909_3910del:p.Ser1304fs	coding	Pathogenic
14	95103487	CAG	C	A95103490T	DICER1	NM_030621.4(DICER1):c.3905_3906CT[1]:p.Leu1303fs	coding	Pathogenic
14	95103504	GAATA	G	A95103506G	DICER1	NM_177438.3(DICER1):c.3888_3891del:p.Ile1297fs	coding	Pathogenic
14	95103517	ATTGG	A	T95103518G	DICER1	NM_030621.4(DICER1):c.3875_3878del:p.Pro1292fs	coding	Pathogenic
14	95103602	GT	G	T95103603C	DICER1	NM_177438.3(DICER1):c.3793del:p.Thr1265fs	coding	Pathogenic
14	95103618	C	CG	C95103621G	DICER1	NM_030621.4(DICER1):c.3777dup:p.Val1260fs	coding	Pathogenic
14	95103646	AG	A	G95103647A	DICER1	NM_177438.3(DICER1):c.3749del:p.Ser1250fs	coding	Pathogenic
14	95103648	AT	A	T95103651G	DICER1	NM_177438.3(DICER1):c.3747del:p.Lys1249fs	coding	Pathogenic
14	95103676	AT	A	T95103678A	DICER1	NM_177438.3(DICER1):c.3719del:p.Asn1240fs	coding	Pathogenic
14	95103730	TA	T	A95103733T	DICER1	NM_177438.3(DICER1):c.3665del:p.Leu1222fs	coding	Pathogenic
14	95103780	TGTAGT	A	T95103780A	DICER1	NM_030621.4(DICER1):c.3611_3616delinsT:p.Tyr1204fs	coding	Pathogenic
14	95103806	CA	C	A95103810G	DICER1	NM_030621.4(DICER1):c.3589del:p.Cys1197fs	coding	Pathogenic
14	95103811	GTC	G	C95103815G	DICER1	NM_177438.3(DICER1):c.3581_3582GA[1]:p.Asp1195fs	coding	Pathogenic
14	95103815	CTG	C	G95103817T	DICER1	NM_030621.4(DICER1):c.3579_3580del:p.Asn1193fs	coding	Pathogenic
14	95103856	G	GT	A95103858T	DICER1	NM_177438.3(DICER1):c.3539dup:p.Tyr1180Ter	coding	Pathogenic
14	95103856	GTA	G	T95103857A	DICER1	NM_030621.4(DICER1):c.3538_3539del:p.Tyr1180fs	coding	Pathogenic
14	95103857	TAAGA	T	A95103862C	DICER1	NM_030621.4(DICER1):c.3531_3534TCTT[1]:p.Ser1179fs	coding	Pathogenic
14	95103861	A	ATT	A95103862T	DICER1	NM_177438.2(DICER1):c.3534_3535insAA:p.Ser1179fs	coding	Pathogenic
14	95103871	AATTGCTGTAA	T	A95103871T	DICER1	NM_030621.4(DICER1):c.3515_3525delinsA:p.Leu1172fs	coding	Pathogenic
14	95103871	AATTGCTGTA	T	A95103871T	DICER1	NM_030621.4(DICER1):c.3516_3525delinsA:p.Thr1173_Ile1175del	coding	Pathogenic
14	95103890	GA	G	A95103893C	DICER1	NM_177438.3(DICER1):c.3505del:p.Ser1169fs	coding	Pathogenic
14	95103890	G	GA	C95103894A	DICER1	NM_177438.3(DICER1):c.3505dup:p.Ser1169fs	coding	Pathogenic
14	95103913	AG	A	G95103917A	DICER1	NM_177438.3(DICER1):c.3482del:p.Pro1161fs	coding	Pathogenic
14	95103942	TCA	T	C95103945G	DICER1	NM_030621.4(DICER1):c.3450_3451TG[1]:p.Val1151fs	coding	Pathogenic
14	95103990	C	CT	G95103993T	DICER1	NM_177438.3(DICER1):c.3405dup:p.Gly1136fs	coding	Pathogenic
14	95103993	GA	G	A95103994T	DICER1	NM_030621.4(DICER1):c.3402del:p.Gln1135fs	coding	Pathogenic
14	95104050	C	CT	G95104052T	DICER1	NM_030621.4(DICER1):c.3345dup:p.Ala1116fs	coding	Pathogenic
14	95104080	AT	A	T95104083G	DICER1	NM_177438.3(DICER1):c.3315del:p.Lys1105fs	coding	Pathogenic
14	95104082	T	TTG	C95104085T	DICER1	NM_177438.3(DICER1):c.3312_3313dup:p.Lys1105fs	coding	Pathogenic
14	95104084	GCTGTC	G	C95104085A	DICER1	NM_177438.3(DICER1):c.3307_3311del:p.Asp1103fs	coding	Pathogenic
14	95104085	CTGTCAAT	A	C95104085A	DICER1	NM_177438.3(DICER1):c.3304_3311delinsT:p.Ile1102fs	coding	Pathogenic
14	95104095	A	AT	C95104102T	DICER1	NM_177438.3(DICER1):c.3300dup:p.Ser1101fs	coding	Pathogenic
14	95104095	AT	A	T95104101C	DICER1	NM_030621.4(DICER1):c.3300del:p.Lys1100fs	coding	Pathogenic
14	95104107	C	CGAAA	G95104111A	DICER1	NM_177438.3(DICER1):c.3288_3289insTTTC:p.Gly1097fs	coding	Pathogenic
14	95104114	TAA	T	A95104115G	DICER1	NM_177438.3(DICER1):c.3280_3281del:p.Leu1094fs	coding	Pathogenic
14	95104114	TA	T	A95104116G	DICER1	NM_177438.3(DICER1):c.3281del:p.Asn1093_Leu1094insTer	coding	Pathogenic
14	95104115	AAGTT	A	T95104118G	DICER1	NM_030621.4(DICER1):c.3277_3280del:p.Pro1092_Asn1093insTer	coding	Pathogenic
14	95105102	C	CATGCTGG	G95105103A	DICER1	NM_177438.3(DICER1):c.3237_3238insCCAGCAT:p.Val1080fs	coding	Pathogenic
14	95105162	G	GAT	A95105166T	DICER1	NM_177438.3(DICER1):c.3176_3177dup:p.Arg1060fs	coding	Pathogenic
14	95105164	T	TA	G95105168A	DICER1	NM_030621.4(DICER1):c.3175dup:p.Tyr1059fs	coding	Pathogenic
14	95105203	GAT	CATGAGTTCA	G95105203C	DICER1	NM_030621.4(DICER1):c.3135_3137delinsTGAACTCATG:p.Ser1046fs	coding	Pathogenic
14	95105690	C	CAG	C95105694G	DICER1	NM_177438.3(DICER1):c.3079_3080dup:p.Gln1028fs	coding	Pathogenic
14	95105716	TCTCAGCACTG	T	C95105719T	DICER1	NM_177438.3(DICER1):c.3045_3054del:p.Ser1015fs	coding	Pathogenic
14	95105724	CT	C	T95105725G	DICER1	NM_177438.3(DICER1):c.3046del:p.Ser1016fs	coding	Pathogenic
14	95105725	TGCTTAAAGGAAGC	T	A95105730T	DICER1	NM_177438.3(DICER1):c.3033_3045del:p.Leu1012fs	coding	Pathogenic
14	95105782	GTCTGTAAGAATTCCAAAACAA	G	C95105784T	DICER1	NM_177438.2(DICER1):c.2988-20_2988del	coding	Pathogenic
14	95105784	CT	AG	C95105784A	DICER1	NM_177438.3(DICER1):c.2988-2_2988-1inv	noncoding	Pathogenic
14	95106059	A	ACATC	G95106066T	DICER1	NM_177438.3(DICER1):c.2965_2968dup:p.Val990fs	coding	Pathogenic
14	95106073	C	AA	C95106073A	DICER1	NM_030621.4(DICER1):c.2955delinsTT:p.Gln985fs	coding	Pathogenic
14	95106074	TG	T	G95106076T	DICER1	NM_030621.4(DICER1):c.2953del:p.Gln985fs	coding	Pathogenic
14	95106123	CAA	C	A95106126G	DICER1	NM_177438.3(DICER1):c.2903_2904del:p.Phe968fs	coding	Pathogenic
14	95106138	CAG	C	A95106139G	DICER1	NM_030621.4(DICER1):c.2888_2889del:p.Pro963fs	coding	Pathogenic
14	95106159	GTG	TT	G95106159T	DICER1	NM_030621.4(DICER1):c.2867_2869delinsAA:p.Pro956fs	coding	Pathogenic
14	95106160	TG	T	G95106164T	DICER1	NM_177438.3(DICER1):c.2867del:p.Pro956fs	coding	Pathogenic
14	95106164	G	GT	A95106166T	DICER1	NM_177438.3(DICER1):c.2863dup:p.Thr955fs	coding	Pathogenic
14	95106164	GT	G	T95106165A	DICER1	NM_030621.4(DICER1):c.2863del:p.Thr955fs	coding	Pathogenic
14	95106202	AG	A	G95106204C	DICER1	NM_177438.3(DICER1):c.2825del:p.Pro942fs	coding	Pathogenic
14	95106209	TCA	CC	T95106209C	DICER1	NM_177438.3(DICER1):c.2817_2819delinsGG:p.Phe939fs	coding	Pathogenic
14	95106210	C	CA	T95106215A	DICER1	NM_177438.3(DICER1):c.2817dup:p.Asp940Ter	coding	Pathogenic
14	95107726	A	AT	A95107730T	DICER1	NM_177438.3(DICER1):c.2685dup:p.Phe896fs	coding	Pathogenic
14	95108021	TGA	T	G95108022A	DICER1	NM_030621.4(DICER1):c.2507_2508del:p.Phe836fs	coding	Pathogenic
14	95108064	AGAGCGT	A	A95108066T	DICER1	NM_177438.3(DICER1):c.2460_2465del:p.Arg821_Ser822del	coding	Pathogenic
14	95108079	AG	A	G95108081A	DICER1	NM_177438.3(DICER1):c.2450del:p.Pro817fs	coding	Pathogenic
14	95108081	G	GA	G95108085A	DICER1	NM_177438.3(DICER1):c.2448dup:p.Pro817fs	coding	Pathogenic
14	95108360	TC	T	C95108361T	DICER1	NM_030621.4(DICER1):c.2399del:p.Arg800fs	coding	Pathogenic
14	95108367	G	GT	A95108369T	DICER1	NM_030621.4(DICER1):c.2392dup:p.Thr798fs	coding	Pathogenic
14	95108386	G	GCTTC	G95108392T	DICER1	NM_030621.4(DICER1):c.2370_2373dup:p.Leu792fs	coding	Pathogenic
14	95108389	T	TC	G95108392C	DICER1	NM_177438.3(DICER1):c.2370dup:p.Lys791fs	coding	Pathogenic
14	95108463	T	TG	A95108465G	DICER1	NM_177438.3(DICER1):c.2296dup:p.Gln766fs	coding	Pathogenic
14	95108488	TCAAA	T	A95108491C	DICER1	NM_177438.3(DICER1):c.2268_2271del:p.Glu755_Cys756insTer	coding	Pathogenic
14	95111324	G	GGGTA	C95111330G	DICER1	NM_177438.2(DICER1):c.2245_2248dup:p.Pro750fs	coding	Pathogenic
14	95111326	G	GTAGT	C95111330T	DICER1	NM_177438.3(DICER1):c.2246_2247insACTA:p.Tyr749Ter	coding	Pathogenic
14	95111329	GC	TT	G95111329T	DICER1	NM_030621.4(DICER1):c.2243_2244delinsAA:p.Cys748Ter	coding	Pathogenic
14	95111329	G	GTAGT	C95111330T	DICER1	NM_177438.2(DICER1):c.2243_2244insACTA:p.Cys748Ter	coding	Pathogenic
14	95111342	TTCGTGGAA	T	T95111343C	DICER1	NM_177438.3(DICER1):c.2223_2230del:p.Ser742fs	coding	Pathogenic
14	95111372	G	GTC	T95111378C	DICER1	NM_030621.4(DICER1):c.2197_2198GA[3]:p.Thr734fs	coding	Pathogenic
14	95111385	C	CATGCAAA	T95111393A	DICER1	NM_030621.4(DICER1):c.2181_2187dup:p.Asp730delinsPheAlaTer	coding	Pathogenic
14	95111413	AAC	A	C95111415G	DICER1	NM_030621.4(DICER1):c.2158_2159del:p.Thr719_Val720insTer	coding	Pathogenic
14	95113221	G	GT	A95113223T	DICER1	NM_030621.4(DICER1):c.1910dup:p.Tyr637Ter	coding	Pathogenic
14	95113221	G	GTC	A95113223C	DICER1	NM_177438.3(DICER1):c.1910_1911insGA:p.Tyr637Ter	coding	Pathogenic
14	95115665	AC	A	C95115667T	DICER1	NM_030621.4(DICER1):c.1907+1del	noncoding	Pathogenic
14	95115690	GTTGA	G	A95115694T	DICER1	NM_030621.4(DICER1):c.1880_1883del:p.Ile627fs	coding	Pathogenic
14	95115734	AT	A	T95115735G	DICER1	NM_030621.4(DICER1):c.1839del:p.Tyr614fs	coding	Pathogenic
14	95115746	C	CCT	G95115747C	DICER1	NM_177438.2(DICER1):c.1827_1828insAG:p.Val610fs	coding	Pathogenic
14	95115768	A	ATCAAT	G95115774T	DICER1	NM_177438.3(DICER1):c.1801_1805dup:p.Asp602fs	coding	Pathogenic
14	95115786	AG	A	G95115787T	DICER1	NM_030621.4(DICER1):c.1787del:p.Thr596fs	coding	Pathogenic
14	95115787	G	GT	A95115789T	DICER1	NM_177438.3(DICER1):c.1786dup:p.Thr596fs	coding	Pathogenic
14	95115806	AC	A	C95115807T	DICER1	NM_030621.4(DICER1):c.1767del:p.Lys589fs	coding	Pathogenic
14	95116451	AC	A	C95116453T	DICER1	NM_030621.4(DICER1):c.1752+1del	noncoding	Pathogenic
14	95116452	CCTTTT	C	T95116454A	DICER1	NM_030621.4(DICER1):c.1749_1753del:p.Glu583fs	coding	Pathogenic
14	95116457	TC	T	C95116458A	DICER1	NM_030621.4(DICER1):c.1747del:p.Glu583fs	coding	Pathogenic
14	95116472	G	GT	A95116477T	DICER1	NM_030621.4(DICER1):c.1732dup:p.Thr578fs	coding	Pathogenic
14	95116478	AG	A	G95116480T	DICER1	NM_030621.4(DICER1):c.1726del:p.Thr578fs	coding	Pathogenic
14	95116488	CA	C	A95116492C	DICER1	NM_030621.4(DICER1):c.1716del:p.Phe572fs	coding	Pathogenic
14	95116494	TTTTTA	T	A95116499G	DICER1	NM_030621.4(DICER1):c.1706_1710del:p.Ile569fs	coding	Pathogenic
14	95116508	GTA	G	A95116510C	DICER1	NM_177438.2(DICER1):c.1695_1696del:p.Thr566fs	coding	Pathogenic
14	95116510	AT	A	T95116511C	DICER1	NM_030621.4(DICER1):c.1694del:p.Asp565fs	coding	Pathogenic
14	95116518	AC	A	C95116519A	DICER1	NM_177438.3(DICER1):c.1686del:p.Met562fs	coding	Pathogenic
14	95116519	CAT	C	A95116520T	DICER1	NM_030621.4(DICER1):c.1684_1685del:p.Met562fs	coding	Pathogenic
14	95116536	TG	T	G95116539T	DICER1	NM_177438.3(DICER1):c.1668del:p.Ile557fs	coding	Pathogenic
14	95116618	TG	T	G95116620T	DICER1	NM_177438.3(DICER1):c.1586del:p.Pro529fs	coding	Pathogenic
14	95116671	CAT	C	A95116672G	DICER1	NM_177438.3(DICER1):c.1532_1533del:p.His511fs	coding	Pathogenic
14	95116698	GA	G	A95116708T	DICER1	NM_177438.2(DICER1):c.1510-4del	noncoding	Benign/Likely_benign
14	95116698	G	GAA	T95116709A	DICER1	NM_177438.3(DICER1):c.1510-13_1510-12dup	noncoding	Benign
14	95116698	G	GA	T95116709A	DICER1	NM_030621.4(DICER1):c.1510-13dup	noncoding	Benign/Likely_benign
14	95117668	T	TG	A95117670G	DICER1	NM_030621.4(DICER1):c.1462dup:p.Gln488fs	coding	Pathogenic
14	95117713	TA	T	A95117715G	DICER1	NM_030621.4(DICER1):c.1417del:p.Tyr473fs	coding	Pathogenic
14	95117729	CTT	C	T95117730G	DICER1	NM_030621.4(DICER1):c.1400_1401del:p.Gln467fs	coding	Pathogenic
14	95117744	CCTTT	C	C95117745A	DICER1	NM_177438.3(DICER1):c.1383_1386del:p.Ile461fs	coding	Pathogenic
14	95124208	AC	A	C95124209T	DICER1	NM_177438.3(DICER1):c.1363del:p.Val455fs	coding	Pathogenic
14	95124246	C	CA	T95124251A	DICER1	NM_030621.4(DICER1):c.1325dup:p.Leu442fs	coding	Pathogenic
14	95124265	G	GA	G95124268A	DICER1	NM_030621.4(DICER1):c.1306dup:p.Ser436fs	coding	Pathogenic
14	95124286	TTC	T	C95124290T	DICER1	NM_177438.3(DICER1):c.1284_1285del:p.Lys429fs	coding	Pathogenic
14	95124288	CTCTT	C	C95124290T	DICER1	NM_030621.4(DICER1):c.1280_1283del:p.Lys427fs	coding	Pathogenic
14	95124337	CA	C	A95124338T	DICER1	NM_030621.4(DICER1):c.1234del:p.Trp412fs	coding	Pathogenic
14	95124369	A	AT	A95124371T	DICER1	NM_030621.4(DICER1):c.1202dup:p.Tyr401Ter	coding	Pathogenic
14	95124374	A	ACT	A95124378T	DICER1	NM_030621.4(DICER1):c.1196_1197dup:p.Trp400fs	coding	Pathogenic
14	95124381	GCT	G	C95124382T	DICER1	NM_177438.3(DICER1):c.1189_1190del:p.Ser397fs	coding	Pathogenic
14	95124385	TCA	G	T95124385G	DICER1	NM_030621.4(DICER1):c.1185_1187delinsC:p.Glu396fs	coding	Pathogenic
14	95124397	C	CGCTCATATGG	T95124408G	DICER1	NM_177438.3(DICER1):c.1165_1174dup:p.Arg392delinsProIleTer	coding	Pathogenic
14	95124418	CG	C	G95124419T	DICER1	NM_177438.3(DICER1):c.1153del:p.Arg385fs	coding	Pathogenic
14	95124419	GTAAGATTTCGAGCAGTTTGATTACTT	G	A95124422G	DICER1	NM_177438.3(DICER1):c.1127_1152del:p.Lys376fs	coding	Pathogenic
14	95124434	GT	G	T95124437G	DICER1	NM_030621.4(DICER1):c.1137del:p.Lys379fs	coding	Pathogenic
14	95124439	ATTACT	A	C95124443G	DICER1	NM_177438.3(DICER1):c.1128_1132del:p.Lys376fs	coding	Pathogenic
14	95124542	A	AT	C95124546T	DICER1	NM_177438.2(DICER1):c.1029dup:p.Phe344fs	coding	Pathogenic/Likely_pathogenic
14	95124547	CT	C	T95124548G	DICER1	NM_030621.4(DICER1):c.1024del:p.Arg342fs	coding	Pathogenic
14	95124610	ACTTTATCTGCACAC	A	T95124612A	DICER1	NM_030621.4(DICER1):c.948_961del:p.Trp316fs	coding	Pathogenic
14	95124634	A	AG	A95124636G	DICER1	NM_030621.4(DICER1):c.937dup:p.Leu313fs	coding	Pathogenic
14	95124652	C	CGACAGTCT	T95124663C	DICER1	NM_177438.3(DICER1):c.912_919dup:p.Arg307fs	coding	Pathogenic
14	95124672	C	CA	G95124681A	DICER1	NM_030621.4(DICER1):c.904-12dup	noncoding	Benign
14	95126601	ATCTC	A	C95126603T	DICER1	NM_030621.4(DICER1):c.878_881del:p.Arg293fs	coding	Pathogenic
14	95126603	CTCTT	C	C95126609T	DICER1	NM_177438.3(DICER1):c.876_879del:p.Arg293fs	coding	Pathogenic
14	95126605	CT	C	T95126608C	DICER1	NM_030621.4(DICER1):c.877del:p.Arg293fs	coding	Pathogenic
14	95126605	CTTTCT	C	C95126609G	DICER1	NM_030621.4(DICER1):c.873_877del:p.Glu292fs	coding	Pathogenic
14	95126725	A	AT	C95126727T	DICER1	NM_030621.4(DICER1):c.757dup:p.Ile253fs	coding	Pathogenic
14	95126737	TG	T	G95126738A	DICER1	NM_177438.3(DICER1):c.745del:p.Gln249fs	coding	Pathogenic
14	95126742	AGTATACC	T	A95126742T	DICER1	NM_030621.4(DICER1):c.735-1_741delinsA	coding	Pathogenic
14	95130074	TA	T	A95130075G	DICER1	NM_177438.3(DICER1):c.556del:p.Tyr186fs	coding	Pathogenic
14	95130095	AG	A	G95130096A	DICER1	NM_030621.4(DICER1):c.535del:p.Ala180fs	coding	Pathogenic
14	95130171	C	CA	T95130173A	DICER1	NM_030621.4(DICER1):c.459dup:p.Val154fs	coding	Pathogenic
14	95130172	A	ATAGC	A95130177T	DICER1	NM_177438.3(DICER1):c.455_458dup:p.Tyr153Ter	coding	Pathogenic
14	95131608	G	GACAGCTGACAC	T95131620A	DICER1	NM_177438.3(DICER1):c.328_338dup:p.Arg114fs	coding	Pathogenic
14	95132538	C	CTT	C95132544T	DICER1	NM_030621.4(DICER1):c.282_283dup:p.Arg95fs	coding	Pathogenic
14	95132555	GAA	G	A95132556G	DICER1	NM_177438.3(DICER1):c.265_266del:p.Phe89fs	coding	Pathogenic
14	95132564	CCT	C	C95132565G	DICER1	NM_177438.3(DICER1):c.256_257del:p.Arg86fs	coding	Pathogenic
14	95132565	CT	C	T95132566G	DICER1	NM_030621.4(DICER1):c.256del:p.Arg86fs	coding	Pathogenic
14	95132621	GC	G	C95132623A	DICER1	NM_177438.3(DICER1):c.200del:p.Gly67fs	coding	Pathogenic
14	95133374	C	CA	G95133378A	DICER1	NM_177438.3(DICER1):c.84dup:p.Gly29fs	coding	Pathogenic
14	95204467	C	CAA	C95204477A	CLMN	NM_024734.4(CLMN):c.886-13_886-12dup	noncoding	Benign
14	95535168	C	CCGGGCGTG	G95535183T	GLRX5	NM_016417.3(GLRX5):c.86_93dup:p.Ala32fs	coding	Pathogenic
14	95535235	TGAA	T	A95535240G	GLRX5	NM_016417.3(GLRX5):c.148_150AAG[1]:p.Lys51del	coding	Pathogenic
14	96833476	CT	C	T96833477C	VRK1	NM_003384.3(VRK1):c.6del:p.Arg3fs	coding	Pathogenic
14	96833479	GT	G	T96833480G	VRK1	NM_003384.3(VRK1):c.9del:p.Arg3_Val4insTer	coding	Pathogenic
14	96847330	CAAAA	C	A96847332T	VRK1	NM_003384.3(VRK1):c.362_365del:p.Lys121fs	coding	Pathogenic
14	96856575	AAAAC	A	A96856580C	VRK1	NM_003384.3(VRK1):c.879_882AAAC[1]:p.Lys295fs	coding	Pathogenic
14	96875793	TA	T	A96875794T	VRK1	NM_003384.3(VRK1):c.1069-236del	noncoding	Benign
14	96876090	AAC	A	C96876096G	VRK1	NC_000014.9:g.96876092_96876093CA[2]	coding	Pathogenic
14	99174164	GC	G	C99174166T	BCL11B	NM_138576.4(BCL11B):c.2671del:p.Ala891fs	coding	Pathogenic
14	99174379	G	GGTGTGGCT	C99174388G	BCL11B	NM_138576.4(BCL11B):c.2449_2456dup:p.Gly820fs	coding	Pathogenic
14	99174487	GC	G	C99174490G	BCL11B	NM_138576.4(BCL11B):c.2348del:p.Gly783fs	coding	Pathogenic
14	99174787	GC	G	C99174788T	BCL11B	NM_138576.4(BCL11B):c.2048del:p.Ser683fs	coding	Pathogenic
14	99174870	CCCCGCGCCCGTTGACCGCGCCG	C	T99174881C	BCL11B	NM_138576.4(BCL11B):c.1944_1965del:p.Gly649fs	coding	Pathogenic/Likely_pathogenic
14	99174929	T	TCGTCGC	C99174937G	BCL11B	NM_138576.4(BCL11B):c.1901_1906dup:p.Gly634_Asp635dup	coding	Benign
14	99174951	CCGCCGCA	C	C99174955T	BCL11B	NM_138576.4(BCL11B):c.1878_1884del:p.Gly630fs	coding	Pathogenic
14	99175064	TTC	T	T99175067G	BCL11B	NM_138576.4(BCL11B):c.1770_1771del:p.Lys591fs	coding	Pathogenic
14	99175089	CGCCG	C	G99175090C	BCL11B	NM_138576.4(BCL11B):c.1743_1746del:p.Gly582fs	coding	Pathogenic
14	99175335	C	CG	C99175339G	BCL11B	NM_138576.4(BCL11B):c.1500dup:p.Gly501fs	coding	Pathogenic
14	99175350	TGGCGGCCGAGAGCCCGTCGTCGGAGC	T	G99175354C	BCL11B	NM_138576.4(BCL11B):c.1460_1485del:p.Arg487fs	coding	Pathogenic
14	99175639	G	GGGGCT	A99175652G	BCL11B	NM_138576.4(BCL11B):c.1187_1191AGCCC[3]:p.Lys400fs	coding	Pathogenic
14	99257655	AC	A	C99257656A	BCL11B	NM_138576.4(BCL11B):c.242del:p.Cys81fs	coding	Pathogenic
14	99257816	C	CG	C99257819G	BCL11B	NM_138576.4(BCL11B):c.81dup:p.Ala28fs	coding	Pathogenic
14	99500873	TAAG	T	G99500879A	CCNK	NM_001099402.2(CCNK):c.517+8_517+10del	noncoding	Benign
14	100239627	AG	A	G100239629A	YY1	NM_003403.5(YY1):c.385del:p.Asp129fs	coding	Pathogenic
14	100239703	GGCGGCGGCCGGCAAGA	G	C100239712G	YY1	NM_003403.5(YY1):c.468_483del:p.Gly157fs	coding	Pathogenic
14	100274711	AAAATT	A	T100274715G	YY1	NM_003403.5(YY1):c.860_864del:p.Ile287fs	coding	Pathogenic
14	101983001	C	CT	C101983005T	DYNC1H1	NM_001376.5(DYNC1H1):c.962-15dup	noncoding	Benign
14	102005252	G	GA	C102005254A	DYNC1H1	NM_001376.5(DYNC1H1):c.5433+17dup	noncoding	Benign
14	102017822	T	TAA	G102017825A	DYNC1H1	NM_001376.5(DYNC1H1):c.8177+319_8177+320dup	noncoding	Benign
14	102029929	AAAG	A	A102029936G	DYNC1H1	NM_001376.5(DYNC1H1):c.9754_9756AAG[2]:p.Lys3254del	coding	Pathogenic
14	102038925	AC	A	C102038926G	DYNC1H1	NM_001376.5(DYNC1H1):c.11207-75del	noncoding	Benign
14	102049987	G	GGTGGAGCCTCTGGGCGCCCTGTGACTGGGGTTTGTGTAGCTGTTGT	T102050036G	DYNC1H1	NM_001376.5(DYNC1H1):c.13685-81_13685-36dup	noncoding	Benign
14	102407357	CTG	C	T102407360G	TECPR2	NM_014844.5(TECPR2):c.240_241TG[1]:p.Val81fs	coding	Pathogenic
14	102425110	TA	T	A102425114G	TECPR2	NM_014844.5(TECPR2):c.774del:p.Asp259fs	coding	Pathogenic/Likely_pathogenic
14	102428323	TGAAAG	T	A102428326G	TECPR2	NM_014844.5(TECPR2):c.1028_1032del:p.Lys343fs	coding	Pathogenic/Likely_pathogenic
14	102432029	CT	C	T102432030G	TECPR2	NM_014844.5(TECPR2):c.1319del:p.Leu440fs	coding	Pathogenic
14	102434384	TC	T	C102434385T	TECPR2	NM_014844.5(TECPR2):c.1568del:p.Ser523fs	coding	Pathogenic
14	102434939	CAGAA	C	G102434945T	TECPR2	NM_014844.5(TECPR2):c.2128_2131del:p.Glu710fs	coding	Pathogenic
14	102438121	C	CTGTT	C102438126T	TECPR2	NM_014844.5(TECPR2):c.2495_2498dup:p.Cys834fs	coding	Pathogenic
14	102438214	CCCCGCTCCCTGCT	C	C102438235G	TECPR2	NM_014844.5(TECPR2):c.2578+30_2578+42del	noncoding	Benign
14	102452402	CT	C	T102452403G	TECPR2	NM_014844.5(TECPR2):c.3416del:p.Leu1139fs	coding	Pathogenic/Likely_pathogenic
14	102498022	C	CGCCCAAGCTCCCAGCTCCATCTGT	C102498052A	TECPR2	NM_014844.5(TECPR2):c.4082-75_4082-52dup	noncoding	Benign
14	102870453	GCCCTCGCCCGGC	G	C102870456G	TRAF3	NM_145725.3(TRAF3):c.245+10_245+21del	noncoding	Benign
14	102922699	TG	T	G102922702C	AMN	NM_030943.3(AMN):c.14del:p.Gly5fs	coding	Pathogenic/Likely_pathogenic
14	102922722	CA	C	A102922723G	AMN	NM_030943.4(AMN):c.35del:p.Gln12fs	coding	Pathogenic
14	102928779	A	ACT	G102928784C	AMN	NM_030943.3(AMN):c.318_319CT[3]:p.Asp108fs	coding	Pathogenic
14	102929684	G	GC	A102929686C	AMN	NM_030943.4(AMN):c.791dup:p.Phe265fs	coding	Pathogenic
14	102930199	GG	CTC	G102930199C	AMN	NM_030943.4(AMN):c.1041_1042delinsCTC:p.Glu348fs	coding	Pathogenic
14	103574110	AAAG	A	G103574116T	COA8	NM_001302652.2(COA8):c.328_330GAA[1]:p.Glu111del	coding	Pathogenic
14	103966781	ATAGT	A	T103966786G	TDRD9	NM_153046.3(TDRD9):c.716_719TAGT[1]:p.Ser241fs	coding	Pathogenic
14	104703194	ACCCTGGACG	A	G104703203C	INF2	NM_022489.4(INF2):c.490_498del:p.Ala164_Asp166del	coding	Pathogenic
14	104707525	ACCCCACCCCCAC	A	C104707541T	INF2	NM_022489.4(INF2):c.1262_1267CACCCC[2]:p.Pro425_Pro428del	coding	Benign
14	104707547	CACCCCT	C	A104707548G	INF2	NM_022489.4(INF2):c.1281_1286del:p.Pro428_Leu429del	coding	Benign/Likely_benign
14	104711014	CA	C	A104711015G	INF2	NM_022489.4(INF2):c.2310+8del	noncoding	Benign
14	104741184	GC	G	C104741191A	ADSS1	NM_152328.4(ADSS1):c.741del:p.Lys248fs	coding	Pathogenic
14	104741972	CA	C	A104741973T	ADSS1	NM_152328.5(ADSS1):c.919del:p.Ile307fs	coding	Pathogenic
14	104780213	TC	CT	T104780213C	AKT1	NM_005163.2(AKT1):c.49_50delinsAG:p.Glu17Arg	coding	Pathogenic
14	105168369	C	CCAG	C105168386A	JAG2	NM_002226.5(JAG2):c.37_39CTG[6]:p.Leu17dup	coding	Benign
14	105221797	GCAC	G	C105221803A	BRF1	NM_001519.4(BRF1):c.1160_1162GTG[1]:p.Gly388del	coding	Benign
15	22824672	CTG	C	G22824674A	NIPA1	NM_144599.5(NIPA1):c.*435_*436del	noncoding	Benign
15	22826077	G	GA	T22826086A	NIPA1	NM_144599.5(NIPA1):c.*1846dup	noncoding	Benign
15	22826297	C	CTT	A22826298T	NIPA1	NM_144599.5(NIPA1):c.*2058_*2059insTT	noncoding	Benign
15	22939403	AG	A	G22939404C	CYFIP1	NM_014608.6(CYFIP1):c.666+7del	noncoding	Benign
15	22939404	G	GCCTT	A22939409C	CYFIP1	NM_014608.6(CYFIP1):c.666+3_666+6dup	noncoding	Benign
15	23566257	G	GC	G23566265C	MKRN3	NM_005664.4(MKRN3):c.482dup:p.Ala162fs	coding	Pathogenic
15	23566417	AC	A	C23566419G	MKRN3	NM_005664.4(MKRN3):c.637del:p.Arg213fs	coding	Pathogenic
15	23566953	T	TA	C23566955A	MKRN3	NM_005664.4(MKRN3):c.1172dup:p.Tyr391Ter	coding	Pathogenic
15	23644496	TG	T	G23644498T	MAGEL2	NM_019066.5(MAGEL2):c.3246del:p.Asn1084fs	coding	Pathogenic
15	23644560	GAT	G	A23644563C	MAGEL2	NM_019066.5(MAGEL2):c.3179_3180AT[1]:p.Ile1061fs	coding	Pathogenic
15	23644620	GA	G	A23644621C	MAGEL2	NM_019066.5(MAGEL2):c.3122del:p.Val1041fs	coding	Pathogenic
15	23644759	TCA	T	C23644760G	MAGEL2	NM_019066.5(MAGEL2):c.2982_2983del:p.Glu995fs	coding	Pathogenic
15	23644784	TC	T	C23644787T	MAGEL2	NM_019066.5(MAGEL2):c.2958del:p.Ser987fs	coding	Pathogenic
15	23644859	TGGGCCCTTCCCAGCCACTCAGGATCCTGGAGGTGCTA	T	T23644867C	MAGEL2	NM_019066.5(MAGEL2):c.2847_2883del:p.Ser950fs	coding	Pathogenic
15	23645543	CT	C	T23645546A	MAGEL2	NM_019066.5(MAGEL2):c.2199del:p.Glu734fs	coding	Pathogenic
15	23645624	GA	G	A23645628T	MAGEL2	NM_019066.5(MAGEL2):c.2118del:p.Leu708fs	coding	Pathogenic
15	23645672	C	CA	G23645674A	MAGEL2	NM_019066.5(MAGEL2):c.2070dup:p.Ala691fs	coding	Pathogenic
15	23645746	TG	T	G23645753T	MAGEL2	NM_019066.5(MAGEL2):c.1996del:p.Gln666fs	coding	Pathogenic
15	23645746	T	TG	T23645754G	MAGEL2	NM_019066.5(MAGEL2):c.1996dup:p.Gln666fs	coding	Pathogenic
15	23645798	AG	A	G23645801C	MAGEL2	NM_019066.5(MAGEL2):c.1944del:p.Gln650fs	coding	Pathogenic
15	23645815	A	AC	A23645818C	MAGEL2	NM_019066.5(MAGEL2):c.1927dup:p.Val643fs	coding	Pathogenic
15	23645940	TG	T	G23645942A	MAGEL2	NM_019066.5(MAGEL2):c.1802del:p.Pro601fs	coding	Pathogenic
15	23646090	TA	T	A23646091C	MAGEL2	NM_019066.5(MAGEL2):c.1652del:p.Val551fs	coding	Pathogenic
15	23646141	CG	C	G23646145C	MAGEL2	NM_019066.5(MAGEL2):c.1601del:p.Pro534fs	coding	Pathogenic
15	23647554	A	AG	C23647557G	MAGEL2	NM_019066.5(MAGEL2):c.188dup:p.Ala64fs	coding	Pathogenic
15	25339130	TTTTGTTTTAC	T	T25339131A	UBE3A	NM_130839.5(UBE3A):c.2616_*6del:p.Ter873GlnextTer?	noncoding	Pathogenic
15	25339141	AGCATGCCAAATCCTTTGGCATACGTGATGGCCTTCAACAATCTCTCTTTAAGTTTTTCTTTGCTTGAG	A	G25339142T	UBE3A	NM_130839.5(UBE3A):c.2547_2614del:p.Ser850fs	coding	Pathogenic
15	25339148	C	CA	T25339152A	UBE3A	NM_130839.5(UBE3A):c.2607dup:p.Gly870fs	coding	Pathogenic
15	25339174	T	TTCAACAATCTCTCTTTAAGTTTTTCTTTGCTTGAGTATTCCGGAAGTAAAAGCACATTA	A25339234T	UBE3A	NM_130839.5(UBE3A):c.2523_2581dup:p.Lys861delinsIleMetCysPheTyrPheArgAsnThrGlnAlaLysLysAsnLeuLysArgAspCysTer	coding	Pathogenic
15	25339181	ATCTC	A	C25339185T	UBE3A	NM_130839.5(UBE3A):c.2569_2570GA[1]:p.Glu857fs	coding	Pathogenic
15	25339185	C	CTCTT	A25339191C	UBE3A	NM_130839.5(UBE3A):c.2567_2570dup:p.Leu859fs	coding	Pathogenic
15	25339185	CTCTT	C	C25339187A	UBE3A	NM_130839.5(UBE3A):c.2567_2570del:p.Lys856fs	coding	Pathogenic
15	25339186	TCTTTAAGTTTTTCTTTG	T	T25339190G	UBE3A	NM_130839.5(UBE3A):c.2553_2569del:p.Ser851fs	coding	Pathogenic
15	25339187	C	CTT	A25339191T	UBE3A	NM_130839.5(UBE3A):c.2567_2568dup:p.Glu857fs	coding	Pathogenic
15	25339187	CTT	C	T25339189A	UBE3A	NM_130839.5(UBE3A):c.2567_2568del:p.Lys856fs	coding	Pathogenic/Likely_pathogenic
15	25339188	T	TTTAAG	T25339196A	UBE3A	NM_130839.5(UBE3A):c.2563_2567dup:p.Lys856fs	coding	Pathogenic
15	25339188	T	TTTAAGTTTTTCTTTGCTTGAG	A25339211T	UBE3A	NM_130839.5(UBE3A):c.2547_2567dup:p.Lys856_Glu857insAsnSerSerLysGluLysLeu	coding	Pathogenic
15	25339189	TTAAG	T	A25339191T	UBE3A	NM_130839.5(UBE3A):c.2563_2566del:p.Leu855fs	coding	Pathogenic
15	25339189	T	TTAAG	T25339195A	UBE3A	NM_130839.5(UBE3A):c.2563_2566dup:p.Lys856delinsThrTer	coding	Pathogenic
15	25339189	T	TTAAGTTTTTCTTTGCTTGAGTATTCCGGAAGTAAAAGCACATTA	A25339234T	UBE3A	NM_130839.5(UBE3A):c.2523_2566dup:p.Lys856fs	coding	Pathogenic
15	25339193	G	GT	C25339199T	UBE3A	NM_130839.5(UBE3A):c.2562dup:p.Leu855fs	coding	Pathogenic
15	25339195	T	TTTTC	G25339203C	UBE3A	NM_130839.5(UBE3A):c.2557_2560dup:p.Lys854fs	coding	Pathogenic
15	25339204	CTTGAGTATTCCGGAAGT	C	T25339205A	UBE3A	NM_130839.5(UBE3A):c.2535_2551del:p.Leu846fs	coding	Pathogenic
15	25339211	A	ATTCCGGAAGT	A25339222T	UBE3A;SNHG14	NM_130839.5(UBE3A):c.2535_2544dup:p.Tyr849fs	coding	Pathogenic
15	25339217	GA	G	A25339219G	UBE3A	NM_130839.5(UBE3A):c.2538del:p.Pro847fs	coding	Pathogenic
15	25340112	ATAATCATCTT	A	C25340117T	UBE3A	NM_130839.5(UBE3A):c.2461_2470del:p.Leu820_Lys821insTer	coding	Pathogenic
15	25340113	T	TA	T25340116A	UBE3A	NM_130839.5(UBE3A):c.2469dup:p.Ile824fs	coding	Pathogenic
15	25340114	AATC	A	A25340118T	UBE3A	NM_130839.5(UBE3A):c.2463_2465GAT[1]:p.Met822del	coding	Pathogenic
15	25340148	GCT	G	C25340151G	UBE3A	NM_130839.5(UBE3A):c.2431_2432AG[1]:p.Arg811fs	coding	Pathogenic
15	25340149	CTCTG	C	C25340155G	UBE3A	NM_130839.5(UBE3A):c.2426_2429CAGA[1]:p.Asp810fs	coding	Pathogenic
15	25340155	CTG	C	T25340158C	UBE3A	NM_130839.5(UBE3A):c.2424_2425CA[1]:p.Thr809fs	coding	Pathogenic
15	25340174	CAAG	C	A25340179G	UBE3A	NM_130839.5(UBE3A):c.2403_2405CTT[1]:p.Phe802del	coding	Pathogenic
15	25340177	GAA	G	A25340178G	UBE3A	NM_130839.5(UBE3A):c.2404_2405del:p.Phe802fs	coding	Pathogenic
15	25340182	G	GTCTT	T25340188C	UBE3A	NM_130839.5(UBE3A):c.2397_2400dup:p.Leu801fs	coding	Pathogenic
15	25340201	AAATG	A	T25340208C	UBE3A	NM_130839.5(UBE3A):c.2374_2377CATT[1]:p.Ser793fs	coding	Pathogenic
15	25354357	T	TC	A25354359C	UBE3A	NM_130839.5(UBE3A):c.2349dup:p.Ile784fs	coding	Pathogenic
15	25354361	AAC	A	C25354363G	UBE3A	NM_130839.5(UBE3A):c.2344_2345del:p.Val782fs	coding	Pathogenic
15	25354395	G	GTAGTT	C25354402A	UBE3A	NM_130839.5(UBE3A):c.2307_2311dup:p.Thr771fs	coding	Pathogenic
15	25354401	TC	T	C25354402T	UBE3A	NM_130839.5(UBE3A):c.2305del:p.Glu769fs	coding	Pathogenic
15	25354561	TG	T	G25354563T	UBE3A	NM_130839.5(UBE3A):c.2246del:p.Pro749fs	coding	Pathogenic
15	25354569	A	AT	A25354571T	UBE3A	NM_130839.5(UBE3A):c.2238dup:p.Phe747fs	coding	Pathogenic
15	25354573	G	GTACTT	A25354581C	UBE3A	NM_130839.5(UBE3A):c.2230_2234dup:p.Tyr745Ter	coding	Pathogenic
15	25354645	T	TAATA	T25354646A	UBE3A	NM_130839.5(UBE3A):c.2162_2163insTATT:p.Lys721fs	coding	Pathogenic
15	25355983	TG	T	G25355985A	UBE3A	NM_130839.5(UBE3A):c.2032del:p.Gln678fs	coding	Pathogenic
15	25355992	ATCATCATG	A	A25355998T	UBE3A	NM_130839.5(UBE3A):c.2016_2023del:p.Met673fs	coding	Pathogenic
15	25355998	A	AT	G25356000T	UBE3A	NM_130839.5(UBE3A):c.2017dup:p.Met673fs	coding	Pathogenic
15	25356042	ACT	A	C25356045G	UBE3A	NM_130839.5(UBE3A):c.1970_1971AG[1]:p.Ser658fs	coding	Pathogenic
15	25356695	TGA	T	A25356699T	UBE3A	NM_130839.5(UBE3A):c.1951_1952TC[1]:p.His652fs	coding	Pathogenic
15	25356765	GTACATCCAGTA	G	T25356770G	UBE3A	NM_130839.5(UBE3A):c.1874_1884del:p.Ile625fs	coding	Pathogenic
15	25356777	TAC	T	C25356779G	UBE3A	NM_130839.5(UBE3A):c.1871_1872del:p.Cys624fs	coding	Pathogenic
15	25356812	CCAAT	C	A25356815G	UBE3A	NM_130839.5(UBE3A):c.1834_1837del:p.Ile612fs	coding	Pathogenic
15	25356826	CTG	C	T25356827A	UBE3A	NM_130839.5(UBE3A):c.1822_1823del:p.Gln608fs	coding	Pathogenic
15	25356842	AAAG	A	A25356847T	UBE3A	NM_130839.5(UBE3A):c.1802_1804CTT[1]:p.Ser602del	coding	Pathogenic
15	25356859	CCAAAA	C	A25356863T	UBE3A	NM_130839.5(UBE3A):c.1786_1790del:p.Phe596fs	coding	Pathogenic
15	25356860	C	CA	C25356865A	UBE3A	NM_130839.5(UBE3A):c.1789dup:p.Trp597fs	coding	Pathogenic
15	25356867	AT	A	T25356871G	UBE3A	NM_130839.5(UBE3A):c.1782del:p.Lys594fs	coding	Pathogenic
15	25360425	ATTC	A	C25360428T	UBE3A	NM_130839.5(UBE3A):c.1708_1710del:p.Glu570del	coding	Pathogenic
15	25360433	G	GAAAC	C25360439A	UBE3A	NM_130839.5(UBE3A):c.1699_1702dup:p.Ser568fs	coding	Pathogenic
15	25360467	C	CA	T25360471A	UBE3A	NM_130839.5(UBE3A):c.1668dup:p.Glu557Ter	coding	Pathogenic
15	25360504	A	AT	C25360509T	UBE3A	NM_130839.5(UBE3A):c.1631dup:p.Asn544fs	coding	Pathogenic
15	25360829	C	CAGTT	G25360832T	UBE3A	NM_000462.5(UBE3A):c.1618-303_1618-302insCTAA	noncoding	Benign
15	25370566	CC	TTGTCTAGCA	C25370566T	UBE3A	NM_130839.5(UBE3A):c.1607_1608delinsTGCTAGACAA:p.Arg536fs	coding	Pathogenic
15	25370573	AG	A	G25370574T	UBE3A	NM_130839.5(UBE3A):c.1600del:p.Val535fs	coding	Pathogenic
15	25370576	G	GC	A25370578C	UBE3A	NM_130839.5(UBE3A):c.1597dup:p.Ala533fs	coding	Pathogenic
15	25370607	TGA	T	A25370609T	UBE3A	NM_130839.5(UBE3A):c.1565_1566del:p.Leu522fs	coding	Pathogenic
15	25370632	C	CT	G25370634T	UBE3A	NM_130839.5(UBE3A):c.1541dup:p.Gln515fs	coding	Pathogenic
15	25370645	AAGCTGTAG	A	C25370648A	UBE3A	NM_130839.5(UBE3A):c.1521_1528del:p.Tyr508fs	coding	Pathogenic
15	25370697	CATAAT	C	A25370703C	UBE3A	NM_130839.5(UBE3A):c.1467_1471ATTAT[1]:p.Leu490_Tyr491insTer	coding	Pathogenic
15	25370726	GC	G	C25370727A	UBE3A	NM_130839.5(UBE3A):c.1447del:p.Ala483fs	coding	Pathogenic
15	25370734	TATAAAGGGACATGTC	T	G25370740A	UBE3A	NM_130839.5(UBE3A):c.1425_1439del:p.Met475_Phe479del	coding	Pathogenic
15	25370751	TAA	T	A25370754G	UBE3A	NM_130839.5(UBE3A):c.1421_1422del:p.Phe474fs	coding	Pathogenic
15	25370758	G	GA	T25370761A	UBE3A	NM_130839.5(UBE3A):c.1415dup:p.Ser473fs	coding	Pathogenic
15	25370765	TTC	T	C25370769G	UBE3A	NM_130839.5(UBE3A):c.1405_1406GA[1]:p.Asn470fs	coding	Pathogenic
15	25370771	GTTTCTACTTTGAAAAAAGTATAATCTTTATCCATTTCTAGAACCTCATTCAGTGGTTCATTAATAAACTCTTCAAAAGGGATAAGTGGT	G	T25370776G	UBE3A	NM_130839.5(UBE3A):c.1314_1402del:p.Lys438fs	coding	Pathogenic
15	25370851	GA	G	A25370852T	UBE3A	NM_130839.5(UBE3A):c.1322del:p.Ile441fs	coding	Pathogenic
15	25370920	T	TTTCTTGTTTC	T25370936G	UBE3A	NM_130839.5(UBE3A):c.1244_1253dup:p.Gly419fs	coding	Pathogenic
15	25370926	GTTTCTTC	G	T25370935C	UBE3A	NM_130839.5(UBE3A):c.1234_1240GAAGAAA[1]:p.Arg414fs	coding	Pathogenic
15	25371000	CTTCA	C	C25371003G	UBE3A	NM_130839.5(UBE3A):c.1170_1173del:p.Asn390fs	coding	Pathogenic
15	25371037	A	AT	G25371041T	UBE3A	NM_130839.5(UBE3A):c.1136dup:p.Asn379fs	coding	Pathogenic
15	25371046	G	GT	A25371048T	UBE3A	NM_130839.5(UBE3A):c.1127dup:p.Tyr376Ter	coding	Pathogenic
15	25371135	TATAAGTA	T	A25371142T	UBE3A	NM_130839.5(UBE3A):c.1032_1038del:p.Thr345fs	coding	Pathogenic
15	25371186	CATTGT	C	G25371190T	UBE3A	NM_130839.5(UBE3A):c.983_987del:p.Tyr328fs	coding	Pathogenic
15	25371346	TC	T	C25371347G	UBE3A	NM_130839.5(UBE3A):c.827del:p.Arg276fs	coding	Pathogenic
15	25371533	C	CT	A25371535T	UBE3A	NM_130839.5(UBE3A):c.640dup:p.Ser214fs	coding	Pathogenic
15	25371566	TC	T	C25371567T	UBE3A	NM_130839.5(UBE3A):c.607del:p.Asp203fs	coding	Pathogenic
15	25371602	TCCTTTTC	T	C25371603A	UBE3A	NM_130839.5(UBE3A):c.565_571del:p.Glu189fs	coding	Pathogenic
15	25371627	C	CAG	T25371629G	UBE3A	NM_130839.5(UBE3A):c.546_547insCT:p.Glu183fs	coding	Pathogenic
15	25371656	TC	T	C25371658T	UBE3A	NM_130839.5(UBE3A):c.517del:p.Glu173fs	coding	Pathogenic
15	25371710	G	GA	C25371717A	UBE3A	NM_130839.5(UBE3A):c.463dup:p.Ser155fs	coding	Pathogenic
15	25371733	GA	G	A25371734T	UBE3A	NM_130839.5(UBE3A):c.440del:p.Ile147fs	coding	Pathogenic
15	25371750	CCT	C	C25371755T	UBE3A	NM_130839.5(UBE3A):c.418_419AG[2]:p.Glu141fs	coding	Pathogenic
15	25371780	CA	C	A25371781T	UBE3A	NM_130839.5(UBE3A):c.393del:p.Val130_Tyr131insTer	coding	Pathogenic
15	25371792	CTTCTG	C	C25371795A	UBE3A	NM_130839.5(UBE3A):c.377_381del:p.Thr126fs	coding	Pathogenic
15	25371798	TTAAG	T	A25371804C	UBE3A	NM_130839.5(UBE3A):c.368_371CTTA[1]:p.Thr123_Tyr124insTer	coding	Pathogenic
15	25375485	CCTTT	C	T25375489G	UBE3A	NM_130839.5(UBE3A):c.337_340del:p.Lys113fs	coding	Pathogenic
15	25375490	C	CT	G25375493T	UBE3A	NM_130839.5(UBE3A):c.335dup:p.Lys113fs	coding	Pathogenic
15	25375501	TTA	T	A25375503C	UBE3A	NM_130839.5(UBE3A):c.323_324del:p.Ile108fs	coding	Pathogenic
15	25375563	C	CCTTT	G25375571T	UBE3A	NM_130839.5(UBE3A):c.259_262dup:p.Gly88fs	coding	Pathogenic
15	25375666	AG	A	G25375668A	UBE3A	NM_130839.5(UBE3A):c.159del:p.Cys54fs	coding	Pathogenic
15	25375671	G	GCA	A25375676C	UBE3A	NM_130839.5(UBE3A):c.151_152TG[3]:p.Ala52fs	coding	Pathogenic
15	25405459	A	ATT	C25405460T	UBE3A	NM_130838.3(UBE3A):c.2+1_2+2insAA	noncoding	Pathogenic
15	26560957	TC	T	C26560958A	GABRB3	NM_000814.6(GABRB3):c.1054del:p.Asp352fs	coding	Pathogenic
15	26621118	G	GA	T26621119A	GABRB3	NM_000814.6(GABRB3):c.461+195_461+196insT	noncoding	Benign
15	26621369	CT	C	T26621370G	GABRB3	NM_000814.6(GABRB3):c.405del:p.Thr135_Val136insTer	coding	Pathogenic
15	26772679	AC	A	C26772684G	GABRB3	NM_000814.6(GABRB3):c.172+1del	noncoding	Pathogenic
15	27871216	CCAGGA	C	G27871219A	OCA2	NM_000275.3(OCA2):c.2177_2181del:p.Val726fs	coding	Pathogenic
15	27926150	CA	C	A27926156C	OCA2	NM_000275.3(OCA2):c.2055del:p.Phe685fs	coding	Pathogenic
15	27926245	GC	G	C27926246A	OCA2	NM_000275.3(OCA2):c.1960del:p.Ala654fs	coding	Pathogenic
15	27989659	CTGGG	C	G27989661C	OCA2	NM_000275.3(OCA2):c.1120_1123del:p.Pro374fs	coding	Pathogenic
15	28016126	TG	T	G28016127C	OCA2	NM_000275.3(OCA2):c.867del:p.Ser289fs	coding	Pathogenic
15	28016172	CCAG	GACC	C28016172G	OCA2	NM_000275.3(OCA2):c.819_822delinsGGTC:p.Asn273_Trp274delinsLysVal	coding	Pathogenic/Likely_pathogenic
15	28016173	CA	TG	C28016173T	OCA2	NM_000275.3(OCA2):c.820_821inv:p.Trp274Gln	coding	Pathogenic
15	28018396	CCTGCTGTGGCCGCCGCCACCTGGAGCCCAAAGCGTCAGCCTGGGTCAGCTCCACCACGATGTGCTCTTCCCTCCCAGGACGACTCGGCCCACTGGCCACTAGGGCCCCTGCCAGGTCCACCTGCAGCAGCGTGGAGTCCACGTGGCTGCTAAGGTTCACGG	C	G28018399C	OCA2	NM_000275.2(OCA2):c.647_807del:p.Ser216Cysfs	coding	Pathogenic
15	28022510	CCAGCGGTGATAAGGCCAA	C	G28022515T	OCA2	NM_000275.3(OCA2):c.619_636del:p.Leu207_Leu212del	coding	Pathogenic/Likely_pathogenic
15	28027945	C	CA	G28027947A	OCA2	NM_000275.3(OCA2):c.440dup:p.Ser148fs	coding	Pathogenic
15	28081703	GC	G	C28081706G	OCA2	NM_000275.3(OCA2):c.171del:p.Gln58fs	coding	Pathogenic
15	28081743	TC	T	C28081745A	OCA2	NM_000275.3(OCA2):c.131del:p.Gly44fs	coding	Pathogenic
15	28081746	ACCGGCTCC	A	G28081750A	OCA2	NM_000275.3(OCA2):c.121_128del:p.Gly41fs	coding	Pathogenic
15	28211094	AG	A	G28211096A	HERC2	NM_004667.5(HERC2):c.6976del:p.Ile2325_Leu2326insTer	coding	Pathogenic
15	28260815	TGTCCAGTCCTGGCAA	T	G28260816T	HERC2	NM_004667.5(HERC2):c.2263_2277del:p.Leu755_Asp759del	coding	Pathogenic
15	28272968	TC	T	C28272970T	HERC2	NM_004667.5(HERC2):c.836del:p.Gly279fs	coding	Benign
15	29126370	AT	GC	A29126370G	FAM189A1	NM_015307.1:c.1124_1125delATinsGC	coding	Benign
15	30904917	CTA	C	A30904919G	FAN1	NM_014967.5(FAN1):c.256_257del:p.Met86fs	coding	Pathogenic
15	30918250	GT	G	T30918251G	FAN1	NM_014967.5(FAN1):c.1899del:p.Cys633fs	coding	Pathogenic
15	30920633	CAG	C	G30920637C	FAN1	NM_014967.5(FAN1):c.2034_2035GA[1]:p.Arg679fs	coding	Pathogenic
15	30929225	CA	C	A30929226G	FAN1	NM_014967.5(FAN1):c.2616del:p.Asp873fs	coding	Pathogenic
15	30929383	CTT	C	T30929384C	FAN1	NM_014967.5(FAN1):c.2774_2775del:p.Leu925fs	coding	Pathogenic
15	31001903	G	GCTTA	A31001909T	TRPM1	NM_001252024.2(TRPM1):c.4793_4796dup:p.Ser1600fs	coding	Pathogenic
15	31026196	TC	T	C31026199G	TRPM1	NM_001252024.2(TRPM1):c.3571del:p.Glu1191fs	coding	Pathogenic
15	31028410	C	CA	G31028412A	TRPM1	NM_001252024.2(TRPM1):c.3214dup:p.Trp1072fs	coding	Pathogenic
15	31030986	CT	C	T31030987A	TRPM1	NM_001252024.2(TRPM1):c.3123del:p.Ile1041fs	coding	Pathogenic
15	31040274	GAGTTTCAT	G	T31040277C	TRPM1	NM_001252024.2(TRPM1):c.2152_2159del:p.Met718fs	coding	Pathogenic
15	31062572	CACTT	C	T31062575G	TRPM1	NM_001252024.2(TRPM1):c.1089+3_1089+6del	noncoding	Pathogenic
15	32798901	CCTT	C	T32798904C	FMN1	NM_001277313.2(FMN1):c.4030_4032del:p.Lys1344del	coding	Benign
15	33154497	GCCAGTC	G	C33154498A	FMN1	NM_001277313.2(FMN1):c.412_417del:p.Asp138_Trp139del	coding	Benign
15	33473408	TCTC	T	C33473411G	RYR3	NM_001036.5(RYR3):c.52-8_52-6del	noncoding	Benign
15	33772100	CA	TG	C33772100T	RYR3	NM_001036.5(RYR3):c.8997_8998inv:p.Ile3000Val	coding	Benign
15	34240659	AC	A	C34240661T	SLC12A6	NM_001365088.1(SLC12A6):c.2436+1del	noncoding	Pathogenic
15	34243983	T	TA	G34243985A	SLC12A6	NM_001365088.1(SLC12A6):c.2032dup:p.Tyr678fs	coding	Pathogenic
15	34250637	AG	C	A34250637C	SLC12A6	NM_001365088.1(SLC12A6):c.1584_1585delinsG:p.Phe529fs	coding	Pathogenic
15	34250905	CAGAGGGAA	C	G34250909A	SLC12A6	NM_001365088.1(SLC12A6):c.1478_1485del:p.Phe493fs	coding	Pathogenic
15	34251097	G	GA	G34251108A	SLC12A6	NM_001365088.1(SLC12A6):c.1334-50dup	noncoding	Benign
15	34257808	T	TA	T34257815A	SLC12A6	NM_001365088.1(SLC12A6):c.544-26dup	noncoding	Benign
15	34258005	C	CAAAG	G34258010A	SLC12A6	NM_001365088.1(SLC12A6):c.544-221_544-218dup	noncoding	Benign
15	34336430	T	TG	A34336432G	SLC12A6	NM_001365088.1(SLC12A6):c.250dup:p.His84fs	coding	Pathogenic
15	34342028	TCGGTGTCGAGAGT	GGTG	T34342028G	NOP10	NM_018648.3(NOP10):c.122_135delinsCACC:p.Tyr41fs	coding	Pathogenic
15	34791307	TCACACACACACACACACA	T	C34791336T	ACTC1	NM_005159.5(ACTC1):c.809-58TG[14]	noncoding	Benign
15	34791307	TCACACACACACACACA	T	C34791338T	ACTC1	NM_005159.5(ACTC1):c.809-58TG[15]	noncoding	Benign
15	34791307	TCACACA	T	C34791348T	ACTC1	NM_005159.5(ACTC1):c.809-58TG[20]	noncoding	Benign
15	34792393	GAC	G	A34792402T	ACTC1	NM_005159.5(ACTC1):c.616+5GT[4]	noncoding	Benign
15	34793421	TAGA	T	A34793424G	ACTC1	NM_005159.5(ACTC1):c.275_277del:p.Phe92del	coding	Pathogenic
15	34793467	TGATACCATGCTCGATGG	T	C34793473T	ACTC1	NM_005159.5(ACTC1):c.215_231del:p.Pro72fs	coding	Pathogenic
15	34794662	GC	G	C34794663T	ACTC1	NM_005159.5(ACTC1):c.129+17del	noncoding	Benign
15	36896663	ATTC	A	T36896671G	MEIS2	NM_170675.5(MEIS2):c.992_994GAA[2]:p.Arg333del	coding	Pathogenic/Likely_pathogenic
15	36950363	GCTAA	G	A36950366G	MEIS2	NM_170675.5(MEIS2):c.934_937del:p.Leu312fs	coding	Pathogenic/Likely_pathogenic
15	37036888	G	GT	G37036895T	MEIS2	NM_170675.5(MEIS2):c.825dup:p.Arg276fs	coding	Pathogenic
15	38253190	GCGAGGAGACGGCGA	G	G38253192T	SPRED1	NM_152594.3(SPRED1):c.7_20del:p.Glu3fs	coding	Pathogenic
15	38299511	C	CT	A38299518T	SPRED1	NM_152594.3(SPRED1):c.177dup:p.Ile60fs	coding	Pathogenic
15	38322261	T	TA	G38322268A	SPRED1	NM_152594.3(SPRED1):c.234dup:p.Asp79fs	coding	Pathogenic
15	38322331	GGTCTTAC	G	C38322334T	SPRED1	NM_152594.3(SPRED1):c.301_307del:p.Leu101fs	coding	Pathogenic
15	38322336	T	TA	C38322338A	SPRED1	NM_152594.3(SPRED1):c.304dup:p.Thr102fs	coding	Pathogenic
15	38322338	C	CGT	T38322341G	SPRED1	NM_152594.3(SPRED1):c.306_307dup:p.Phe103fs	coding	Pathogenic
15	38322357	T	TGCTA	G38322363C	SPRED1	NM_152594.3(SPRED1):c.326_329dup:p.Arg110delinsSerTer	coding	Pathogenic/Likely_pathogenic
15	38322372	TAG	T	A38322375G	SPRED1	NM_152594.3(SPRED1):c.340_341AG[1]:p.Gly115fs	coding	Pathogenic
15	38322387	A	AG	C38322389G	SPRED1	NM_152594.3(SPRED1):c.355dup:p.Ala119fs	coding	Pathogenic
15	38322682	TAAGAGCTTGAAGG	T	C38322688G	SPRED1	NM_152594.3(SPRED1):c.376+279_376+291del	noncoding	Benign
15	38324766	G	GC	G38324771C	SPRED1	NM_152594.3(SPRED1):c.384dup:p.Glu129fs	coding	Pathogenic
15	38324775	C	CA	T38324782A	SPRED1	NM_152594.3(SPRED1):c.395dup:p.Asn132fs	coding	Pathogenic
15	38339805	C	CA	G38339807A	SPRED1	NM_152594.3(SPRED1):c.493dup:p.Ser165fs	coding	Pathogenic
15	38351124	CAT	C	A38351125G	SPRED1	NM_152594.3(SPRED1):c.796_797del:p.Met266fs	coding	Pathogenic
15	38351228	C	CT	A38351230T	SPRED1	NM_152594.3(SPRED1):c.900dup:p.Lys301Ter	coding	Pathogenic
15	38351228	CTAAGT	C	A38351235C	SPRED1	NM_152594.3(SPRED1):c.901_905AAGTT[1]:p.Leu302fs	coding	Pathogenic/Likely_pathogenic
15	38351230	AAGTT	A	G38351232A	SPRED1	NM_152594.3(SPRED1):c.903_906del:p.Leu302fs	coding	Pathogenic/Likely_pathogenic
15	38351249	ACT	A	C38351252G	SPRED1	NM_152594.3(SPRED1):c.921_922CT[1]:p.Ser308fs	coding	Pathogenic
15	38351373	TAG	C	T38351373C	SPRED1	NM_152594.3(SPRED1):c.1044_1046delinsC:p.Arg349fs	coding	Pathogenic
15	38351373	TAG	T	A38351374G	SPRED1	NM_152594.3(SPRED1):c.1045_1046del:p.Arg349fs	coding	Pathogenic
15	38351378	GA	G	A38351382T	SPRED1	NM_152594.3(SPRED1):c.1053del:p.Lys351fs	coding	Pathogenic
15	38351423	AAGTT	A	A38351428G	SPRED1	NM_152594.3(SPRED1):c.1095_1098AGTT[1]:p.Ser367fs	coding	Pathogenic
15	38351477	CAGAG	C	A38351478G	SPRED1	NM_152594.3(SPRED1):c.1149_1152del:p.Gly385fs	coding	Pathogenic
15	38351477	CAG	C	A38351480G	SPRED1	NM_152594.3(SPRED1):c.1149_1150AG[1]:p.Glu384fs	coding	Pathogenic
15	38351479	GA	G	A38351480G	SPRED1	NM_152594.3(SPRED1):c.1151del:p.Glu384fs	coding	Pathogenic
15	38494730	C	CCT	T38494731C	RASGRP1	NM_005739.4(RASGRP1):c.1910_1911insAG:p.Ala638fs	coding	Pathogenic
15	39939914	G	GA	T39939919A	EIF2AK4	NM_001013703.4(EIF2AK4):c.257+301dup	noncoding	Benign
15	39943400	T	TA	T39943407A	EIF2AK4	NM_001013703.4(EIF2AK4):c.281dup:p.Asn94fs	coding	Pathogenic
15	39943476	CTG	C	T39943479G	EIF2AK4	NM_001013703.4(EIF2AK4):c.352_353TG[1]:p.Cys118fs	coding	Pathogenic
15	39953947	TAAAAG	T	A39953950G	EIF2AK4	NM_001013703.4(EIF2AK4):c.560_564del:p.Lys187fs	coding	Pathogenic
15	39953956	A	AG	A39953958G	EIF2AK4	NM_001013703.4(EIF2AK4):c.567dup:p.Lys190fs	coding	Pathogenic
15	39967475	T	TG	T39967480G	EIF2AK4	NM_001013703.4(EIF2AK4):c.1153dup:p.Val385fs	coding	Pathogenic
15	39967716	GT	G	T39967718C	EIF2AK4	NM_001013703.4(EIF2AK4):c.1392del:p.Arg465fs	coding	Pathogenic/Likely_pathogenic
15	39976730	G	GCACT	T39976735C	EIF2AK4	NM_001013703.4(EIF2AK4):c.2136_2139dup:p.Ser714fs	coding	Pathogenic
15	39976797	G	GGACGAC	G39976809C	EIF2AK4	NM_001013703.4(EIF2AK4):c.2205_2207CGA[5]:p.Asp736_Asp737dup	coding	Benign
15	39976803	C	CCGACGA	G39976804C	EIF2AK4	NM_001013703.4(EIF2AK4):c.2208_2209insCGACGA:p.Asp737_Glu738insArgArg	coding	Benign
15	40006999	TTTTG	T	G40007003A	EIF2AK4	NM_001013703.4(EIF2AK4):c.3358-13_3358-10del	noncoding	Benign
15	40020929	G	GT	A40020931T	EIF2AK4	NM_001013703.4(EIF2AK4):c.4205dup:p.Ser1403fs	coding	Pathogenic
15	40026000	GCAGA	G	C40026005G	EIF2AK4	NM_001013703.4(EIF2AK4):c.4414_4417CAGA[1]:p.Thr1473fs	coding	Pathogenic
15	40032238	GTAAGTGGCTTTC	TTCT	G40032238T	EIF2AK4	NM_001013703.4(EIF2AK4):c.4728+1_4728+13delinsTTCT	noncoding	Pathogenic
15	40035006	ATCTTT	A	C40035018G	EIF2AK4	NM_001013703.4(EIF2AK4):c.4893-20TCTTT[2]	noncoding	Benign
15	40165037	G	GT	C40165041T	BUB1B	NM_001211.5(BUB1B):c.36-13dup	noncoding	Benign
15	40174016	C	CAAAAAAAA	G40174025A	BUB1B	NM_001211.6(BUB1B):c.385-2460_385-2453dup	noncoding	Benign
15	40176669	CA	C	A40176670C	BUB1B	NM_001211.6(BUB1B):c.578del:p.His193fs	coding	Pathogenic
15	40183838	AAGAC	A	A40183841C	BUB1B	NM_001211.6(BUB1B):c.709_712del:p.Thr237fs	coding	Pathogenic
15	40213359	AC	A	C40213362A	BUB1B	NM_001211.6(BUB1B):c.2566del:p.His856fs	coding	Pathogenic
15	40292073	AC	A	C40292075T	PLCB2	NM_004573.3(PLCB2):c.2516del:p.Gly839fs	coding	Benign
15	40405883	CGCCGCTT	C	C40405888G	IVD	NM_002225.5(IVD):c.61_67del:p.Leu21fs	coding	Pathogenic
15	40405928	CCG	C	C40405929T	IVD	NM_002225.5(IVD):c.102_103del:p.Val35fs	coding	Pathogenic/Likely_pathogenic
15	40410721	GT	G	T40410722G	IVD	NM_002225.5(IVD):c.381del:p.Ala128fs	coding	Pathogenic
15	40410737	CTG	C	T40410738C	IVD	NM_002225.5(IVD):c.397_398del:p.Cys133fs	coding	Pathogenic/Likely_pathogenic
15	40411257	CA	GG	C40411257G	IVD	NM_002225.5(IVD):c.457-3_457-2delinsGG	noncoding	Pathogenic/Likely_pathogenic
15	40411300	AG	A	G40411301C	IVD	NM_002225.5(IVD):c.498del:p.Glu166fs	coding	Pathogenic
15	40411600	GC	G	C40411603T	IVD	NM_002225.5(IVD):c.599del:p.Pro200fs	coding	Pathogenic/Likely_pathogenic
15	40411652	GC	G	C40411654A	IVD	NM_002225.5(IVD):c.650del:p.Pro217fs	coding	Pathogenic
15	40414968	C	CG	C40414975G	IVD	NM_002225.5(IVD):c.870dup:p.Pro291fs	coding	Pathogenic
15	40414968	CG	C	G40414974C	IVD	NM_002225.5(IVD):c.870del:p.Pro291fs	coding	Pathogenic
15	40416292	CTG	C	T40416295C	IVD	NM_002225.5(IVD):c.1069_1070TG[1]:p.Ala358fs	coding	Pathogenic
15	40418167	CT	C	T40418170C	IVD	NM_002225.5(IVD):c.1179del:p.Leu394fs	coding	Pathogenic/Likely_pathogenic
15	40418196	TA	T	A40418197G	IVD	NM_002225.5(IVD):c.1206del:p.Ile402fs	coding	Pathogenic
15	40420149	AG	A	G40420156C	IVD	NM_002225.5(IVD):c.*1893del	noncoding	Benign
15	40421291	CA	C	A40421299C	IVD	NM_002225.5(IVD):c.*3036del	noncoding	Benign
15	40471665	A	AC	T40471667C	CHST14	NM_130468.3(CHST14):c.453dup:p.Cys152fs	coding	Pathogenic
15	40471740	TGGA	GACAG	T40471740G	CHST14	NM_130468.3(CHST14):c.527_530delinsGACAG:p.Val176fs	coding	Pathogenic/Likely_pathogenic
15	40471779	TG	T	G40471780T	CHST14	NM_130468.3(CHST14):c.567del:p.Phe190fs	coding	Pathogenic
15	40472009	T	TA	C40472011A	CHST14	NM_130468.4(CHST14):c.797dup:p.Tyr266Ter	coding	Pathogenic
15	40472192	T	TGGTACCGGCCAGCCAGCCCC	A40472214G	CHST14	NM_130468.3(CHST14):c.981_1000dup:p.Glu334fs	coding	Pathogenic
15	40625447	C	CT	A40625449T	KNL1	NM_144508.5(KNL1):c.5184dup:p.Ile1729fs	coding	Pathogenic
15	40629380	AGTTTCTTGGCAAAAT	A	C40629385G	KNL1	NM_144508.5(KNL1):c.5682+14_5682+28del	noncoding	Benign
15	40729927	C	CA	C40729934A	RAD51	NM_002875.5(RAD51):c.855dup:p.Pro286fs	coding	Pathogenic
15	40936837	TGGCCCCAG	T	A40936844T	DLL4	NM_019074.4(DLL4):c.1857_1864del:p.Pro621fs	coding	Pathogenic
15	41231433	CAAG	C	A41231437G	CHP1	NM_007236.5(CHP1):c.52_54AAG[1]:p.Lys19del	coding	Pathogenic
15	41396527	GT	G	T41396528A	NDUFAF1	NM_016013.4(NDUFAF1):c.532del:p.Thr178fs	coding	Pathogenic
15	42359860	TC	T	C42359864A	CAPN3	NM_000070.3(CAPN3):c.59del:p.Pro20fs	coding	Pathogenic/Likely_pathogenic
15	42359903	AG	A	G42359905C	CAPN3	NM_000070.3(CAPN3):c.100del:p.Ala34fs	coding	Pathogenic
15	42360025	C	CT	A42360029T	CAPN3	NM_000070.3(CAPN3):c.223dup:p.Tyr75fs	coding	Pathogenic
15	42360041	AG	A	G42360042T	CAPN3	NM_000070.3(CAPN3):c.237del:p.Glu79fs	coding	Pathogenic
15	42360059	CCTCT	C	C42360064T	CAPN3	NM_000070.3(CAPN3):c.255_256CT[2]:p.Leu87fs	coding	Pathogenic
15	42360062	C	CT	C42360064T	CAPN3	NM_000070.3(CAPN3):c.258dup:p.Leu87fs	coding	Pathogenic
15	42384494	G	GAATCCCCGATTTA	T42384508A	CAPN3	NM_000070.3(CAPN3):c.322_334dup:p.Ile112fs	coding	Pathogenic
15	42384497	T	TCC	G42384502C	CAPN3	NM_000070.3(CAPN3):c.327_328dup:p.Arg110fs	coding	Pathogenic
15	42386187	GC	G	C42386189A	CAPN3	NM_000070.3(CAPN3):c.402del:p.Ile135fs	coding	Pathogenic/Likely_pathogenic
15	42386230	TC	T	C42386231A	CAPN3	NM_000070.3(CAPN3):c.444del:p.Ile149fs	coding	Pathogenic
15	42386267	AG	A	G42386270A	CAPN3	NM_000070.3(CAPN3):c.483del:p.Ile162fs	coding	Pathogenic
15	42387762	T	TA	T42387764A	CAPN3	NM_000070.3(CAPN3):c.509dup:p.Tyr170Ter	coding	Pathogenic
15	42387802	CA	C	A42387804C	CAPN3	NM_000070.3(CAPN3):c.550del:p.Thr184fs	coding	Pathogenic
15	42387815	TC	T	C42387816A	CAPN3	NM_000070.3(CAPN3):c.562del:p.Gln188fs	coding	Pathogenic
15	42387833	GT	G	T42387834C	CAPN3	NM_000070.3(CAPN3):c.580del:p.Ser194fs	coding	Pathogenic/Likely_pathogenic
15	42387850	AGTTCTGGAGTGCTCT	A	T42387852C	CAPN3	NM_000070.3(CAPN3):c.598_612del:p.Phe200_Leu204del	coding	Pathogenic
15	42388933	A	AT	G42388935T	CAPN3	NM_000070.3(CAPN3):c.639dup:p.Gly214fs	coding	Pathogenic
15	42388934	TGGTTCCTACGAAGCTCTGAAA	T	T42388938G	CAPN3	NM_000070.2(CAPN3):c.643_663del(p.Ser215_Gly221del	coding	Pathogenic
15	42389006	G	GT	G42389013T	CAPN3	NM_000070.3(CAPN3):c.717dup:p.Glu240Ter	coding	Pathogenic
15	42389006	GT	G	T42389012G	CAPN3	NM_000070.3(CAPN3):c.717del:p.Phe239fs	coding	Pathogenic/Likely_pathogenic
15	42389014	A	AG	A42389016G	CAPN3	NM_000070.3(CAPN3):c.720dup:p.Ile241fs	coding	Pathogenic
15	42389022	GATG	AT	G42389022A	CAPN3	NM_000070.3(CAPN3):c.727_730delinsAT:p.Asp243fs	coding	Pathogenic
15	42389033	TGACATGTACAA	T	C42389036T	CAPN3	NM_000070.3(CAPN3):c.741_751del:p.Met248fs	coding	Pathogenic/Likely_pathogenic
15	42389036	CAT	C	A42389037G	CAPN3	NM_000070.3(CAPN3):c.742_743del:p.Met248fs	coding	Pathogenic/Likely_pathogenic
15	42389050	TGAA	T	G42389054A	CAPN3	NM_000070.3(CAPN3):c.756_758GAA[1]:p.Lys254del	coding	Pathogenic
15	42389090	CA	C	A42389091T	CAPN3	NM_000070.3(CAPN3):c.796del:p.Ile266fs	coding	Pathogenic
15	42389955	TG	T	G42389957C	CAPN3	NM_000070.3(CAPN3):c.806del:p.Gly269fs	coding	Pathogenic
15	42389999	T	TG	A42390005G	CAPN3	NM_000070.3(CAPN3):c.853dup:p.Glu285fs	coding	Pathogenic
15	42390004	G	GAGTTGATTGC	C42390016G	CAPN3	NM_000070.3(CAPN3):c.855_864dup:p.Arg289fs	coding	Pathogenic
15	42390034	GATA	CTT	G42390034C	CAPN3	NM_000070.3(CAPN3):c.883_886delinsCTT:p.Asp295fs	coding	Pathogenic
15	42392634	TACAG	T	G42392638A	CAPN3	NM_000070.3(CAPN3):c.946-1_948del	noncoding	Pathogenic/Likely_pathogenic
15	42394267	AG	A	G42394269T	CAPN3	NM_000070.3(CAPN3):c.1043del:p.Gly348fs	coding	Pathogenic
15	42399589	G	GT	G42399591T	CAPN3	NM_000070.3(CAPN3):c.1292dup:p.Ser432fs	coding	Pathogenic
15	42399593	CTG	C	T42399596A	CAPN3	NM_000070.3(CAPN3):c.1296_1297TG[1]:p.Val433fs	coding	Pathogenic/Likely_pathogenic
15	42399616	CG	C	G42399620T	CAPN3	NM_000070.3(CAPN3):c.1322del:p.Gly441fs	coding	Pathogenic
15	42401656	AC	A	C42401659T	CAPN3	NM_000070.3(CAPN3):c.1373del:p.Pro458fs	coding	Pathogenic
15	42401740	TG	T	G42401741C	CAPN3	NM_000070.3(CAPN3):c.1455del:p.Met485fs	coding	Pathogenic
15	42402088	AC	A	C42402089A	CAPN3	NM_000070.3(CAPN3):c.1525-35del	noncoding	Benign
15	42402831	TC	T	C42402833T	CAPN3	NM_000070.3(CAPN3):c.1576del:p.Leu526fs	coding	Pathogenic
15	42402978	TC	T	C42402979T	CAPN3	NM_000070.3(CAPN3):c.1722del:p.Ser575fs	coding	Pathogenic/Likely_pathogenic
15	42402999	CTG	C	T42403000A	CAPN3	NM_000070.3(CAPN3):c.1743_1744del:p.Glu582fs	coding	Pathogenic/Likely_pathogenic
15	42403764	TG	T	G42403766A	CAPN3	NM_000070.3(CAPN3):c.1771del:p.Asp591fs	coding	Pathogenic
15	42404040	C	CAGAG	G42404041A	CAPN3	NM_000070.3(CAPN3):c.1782+263_1782+264insAGAG	noncoding	Benign
15	42405931	G	GA	C42405939A	CAPN3	NM_000070.3(CAPN3):c.1795dup:p.Thr599fs	coding	Pathogenic
15	42408246	CA	C	A42408248G	CAPN3	NM_000070.3(CAPN3):c.1838del:p.Lys613fs	coding	Pathogenic
15	42408272	CAG	C	A42408275G	CAPN3	NM_000070.3(CAPN3):c.1865_1866del:p.Glu622fs	coding	Pathogenic
15	42408272	C	CA	G42408274A	CAPN3	NM_000070.3(CAPN3):c.1863dup:p.Glu622fs	coding	Pathogenic
15	42409320	TG	T	G42409321A	CAPN3	NM_000070.3(CAPN3):c.1933del:p.Asp645fs	coding	Pathogenic
15	42409368	GA	G	A42409369T	CAPN3	NM_000070.3(CAPN3):c.1981del:p.Gln660_Ile661insTer	coding	Pathogenic
15	42409791	T	TG	A42409794G	CAPN3	NM_000070.3(CAPN3):c.1999dup:p.Glu667fs	coding	Pathogenic
15	42409826	AAC	A	C42409830G	CAPN3	NM_000070.3(CAPN3):c.2034_2035CA[1]:p.Thr679fs	coding	Pathogenic
15	42409844	CG	C	G42409845T	CAPN3	NM_000070.3(CAPN3):c.2050+1del	coding	Pathogenic/Likely_pathogenic
15	42409944	GAC	G	A42409949G	CAPN3	NM_000070.3(CAPN3):c.2065_2066AC[2]:p.His690fs	coding	Pathogenic
15	42410429	CAGAT	C	A42410430G	CAPN3	NM_000070.3(CAPN3):c.2118_2121del:p.Asp707fs	coding	Pathogenic
15	42410490	CT	C	T42410491G	CAPN3	NM_000070.3(CAPN3):c.2179del:p.Trp727fs	coding	Pathogenic
15	42410606	GAC	G	C42410610G	CAPN3	NM_000070.3(CAPN3):c.2205_2206CA[1]:p.Thr736fs	coding	Pathogenic/Likely_pathogenic
15	42410632	CA	C	A42410633G	CAPN3	NM_000070.3(CAPN3):c.2230del:p.Ser744fs	coding	Pathogenic
15	42410651	G	GCAGT	A42410658G	CAPN3	NM_000070.3(CAPN3):c.2251_2254dup:p.Asn752fs	coding	Pathogenic
15	42410897	C	CA	C42410900A	CAPN3	NM_000070.3(CAPN3):c.2279dup:p.Asn760fs	coding	Pathogenic/Likely_pathogenic
15	42410909	TG	T	G42410910A	CAPN3	NM_000070.3(CAPN3):c.2290del:p.Asp764fs	coding	Pathogenic/Likely_pathogenic
15	42410931	GCAGA	G	G42410934A	CAPN3	NM_000070.3(CAPN3):c.2314_2317del:p.Asp772fs	coding	Pathogenic
15	42410934	G	GACAA	C42410942A	CAPN3	NM_000070.3(CAPN3):c.2318_2321dup:p.His774fs	coding	Pathogenic
15	42410981	T	TTC	A42410982T	CAPN3	NM_000070.3(CAPN3):c.2361_2362insTC:p.Arg788fs	coding	Pathogenic
15	42410982	A	ATC	G42410983T	CAPN3	NM_000070.3(CAPN3):c.2362_2363insTC:p.Arg788fs	coding	Pathogenic
15	42410982	AG	TCATCT	A42410982T	CAPN3	NM_000070.3(CAPN3):c.2362_2363delinsTCATCT:p.Arg788fs	coding	Pathogenic
15	42410983	G	TCT	G42410983T	CAPN3	NM_000070.3(CAPN3):c.2363delinsTCT:p.Arg788fs	coding	Pathogenic
15	42411011	GA	G	A42411012G	CAPN3	NM_000070.3(CAPN3):c.2380+12del	noncoding	Benign/Likely_benign
15	42726368	G	GA	G42726370A	CDAN1	NM_138477.4(CDAN1):c.3145dup:p.Ser1049fs	coding	Pathogenic
15	42727692	C	CAA	C42727693A	CDAN1	NM_138477.4(CDAN1):c.3024_3025insTT:p.Glu1009fs	coding	Pathogenic
15	42735116	AAAC	A	A42735117C	CDAN1	NM_138477.4(CDAN1):c.1117_1119del:p.Val373del	coding	Pathogenic
15	42777110	G	GT	A42777112T	TTBK2	NM_173500.4(TTBK2):c.1329dup:p.Arg444fs	coding	Pathogenic
15	42777132	ATC	A	C42777136G	TTBK2	NM_173500.4(TTBK2):c.1304_1305GA[1]:p.Asp436fs	coding	Pathogenic
15	42777151	ATC	A	C42777155G	TTBK2	NM_173500.4(TTBK2):c.1285_1286GA[1]:p.Glu429fs	coding	Pathogenic
15	43068043	G	GA	C43068052A	UBR1	NM_174916.3(UBR1):c.660-15dup	noncoding	Benign
15	43208747	GC	G	C43208748G	EPB42	NM_000119.3(EPB42):c.950del:p.Arg317fs	coding	Pathogenic
15	43216288	AC	A	C43216290T	EPB42	NM_000119.2(EPB42):c.265delG:p.Val89Trpfs	coding	Pathogenic
15	43234829	ACTGC	TGAAGGA	A43234829T	TGM5	NM_201631.4(TGM5):c.1811_1815delinsTCCTTCA:p.Ser604fs	coding	Pathogenic
15	43240848	TCA	T	A43240850C	TGM5	NM_201631.4(TGM5):c.1001+2_1001+3del	noncoding	Pathogenic
15	43253549	AG	A	G43253550A	TGM5	NM_201631.4(TGM5):c.640del:p.Leu214fs	coding	Pathogenic
15	43260232	TG	T	G43260236C	TGM5	NM_201631.4(TGM5):c.255del:p.Ser86fs	coding	Pathogenic/Likely_pathogenic
15	43376591	CT	C	T43376593A	TUBGCP4	NM_014444.5(TUBGCP4):c.298del:p.Tyr100fs	coding	Pathogenic
15	43385793	C	AA	C43385793A	TUBGCP4	NM_014444.5(TUBGCP4):c.726delinsAA:p.Leu243fs	coding	Pathogenic
15	43600915	GTCCAC	G	T43600916A	STRC	NM_153700.2(STRC):c.4796_4800del:p.Cys1599fs	coding	Pathogenic
15	43604119	GA	G	A43604121G	STRC	NM_153700.2(STRC):c.4251del:p.Leu1417_Leu1418insTer	coding	Pathogenic/Likely_pathogenic
15	43610325	CA	C	A43610326G	STRC	NM_153700.2(STRC):c.3484del:p.Trp1162fs	coding	Pathogenic
15	43610999	G	GT	G43611002T	STRC	NM_153700.2(STRC):c.3307-17dup	noncoding	Benign
15	43611297	A	AG	A43611299G	STRC	NM_153700.2(STRC):c.3156dup:p.Cys1053fs	coding	Pathogenic
15	43614435	CCAAA	C	A43614438C	STRC	NM_153700.2(STRC):c.2171_2174del:p.Val724fs	coding	Pathogenic
15	44563294	G	GTTGT	T44563297G	SPG11	NM_025137.4(SPG11):c.7158_7159insACAA:p.Gln2387fs	coding	Pathogenic
15	44564539	ATACT	A	A44564545T	SPG11	NM_025137.4(SPG11):c.7151+4_7151+7del	noncoding	Pathogenic
15	44564583	AACCTTTGCTGCTTAAATTCTTCCAAGTA	TACTTGGAAGAATTTAAGCAGCAAAGGTT	A44564583T	SPG11	NM_025137.4(SPG11):c.7087_7115inv:p.Tyr2363_Leu2372delinsAsnLeuCysCysLeuAsnSerSerLysTer	coding	Pathogenic
15	44564596	T	TA	T44564600A	SPG11	NM_025137.4(SPG11):c.7101dup:p.Lys2368Ter	coding	Pathogenic
15	44564609	G	GTAAT	A44564617T	SPG11	NM_025137.4(SPG11):c.7085_7088dup:p.Tyr2363Ter	coding	Pathogenic
15	44564624	T	TTTAAGAATCAC	G44564638A	SPG11	NM_025137.4(SPG11):c.7063_7073dup:p.Gly2359_Asp2360insTer	coding	Pathogenic
15	44564668	C	CA	T44564673A	SPG11	NM_025137.4(SPG11):c.7029dup:p.Val2344fs	coding	Pathogenic
15	44565880	TAC	T	C44565882G	SPG11	NM_025137.4(SPG11):c.6971_6972del:p.Cys2324fs	coding	Pathogenic
15	44565953	CAG	C	A44565956T	SPG11	NM_025137.4(SPG11):c.6896_6897CT[1]:p.Leu2300fs	coding	Pathogenic
15	44566226	ACT	A	C44566231G	SPG11	NM_025137.4(SPG11):c.6828_6829AG[2]:p.Ser2278fs	coding	Pathogenic
15	44566269	A	AG	T44566271G	SPG11	NM_025137.4(SPG11):c.6790dup:p.Leu2264fs	coding	Pathogenic
15	44566319	AAAG	A	A44566324T	SPG11	NM_025137.4(SPG11):c.6755-17_6755-15del	noncoding	Benign/Likely_benign
15	44567435	GACTC	G	C44567437A	SPG11	NM_025137.4(SPG11):c.6739_6742del:p.Glu2247fs	coding	Pathogenic
15	44567437	CTCAA	C	C44567443T	SPG11	NM_025137.4(SPG11):c.6733_6736TTGA[1]:p.Ile2246fs	coding	Pathogenic/Likely_pathogenic
15	44567439	CA	C	A44567441T	SPG11	NM_025137.4(SPG11):c.6738del:p.Ile2246fs	coding	Pathogenic
15	44567545	A	AC	G44567547C	SPG11	NM_025137.4(SPG11):c.6632dup:p.Pro2212fs	coding	Pathogenic
15	44570550	GC	G	C44570552A	SPG11	NM_025137.4(SPG11):c.6451del:p.Ala2151fs	coding	Pathogenic
15	44572794	CTG	C	G44572796T	SPG11	NM_025137.4(SPG11):c.6230_6231del:p.Thr2077fs	coding	Pathogenic
15	44574915	TACAG	T	C44574921G	SPG11	NM_025137.4(SPG11):c.5985_5988CTGT[1]:p.Leu1997fs	coding	Pathogenic
15	44574915	T	TA	C44574917A	SPG11	NM_025137.4(SPG11):c.5992dup:p.Tyr1998fs	coding	Pathogenic
15	44574921	C	CA	G44574923A	SPG11	NM_025137.4(SPG11):c.5986dup:p.Cys1996fs	coding	Pathogenic
15	44574973	C	CTTCCAGGTTA	G44574984T	SPG11	NM_025137.4(SPG11):c.5925_5934dup:p.Val1979Ter	coding	Pathogenic
15	44583809	CTTACT	C	T44583810G	SPG11	NM_025137.4(SPG11):c.5866_5866+4del	noncoding	Pathogenic
15	44583835	GA	G	A44583837T	SPG11	NM_025137.4(SPG11):c.5844del:p.Pro1949_Leu1950insTer	coding	Pathogenic
15	44583837	A	AT	G44583839T	SPG11	NM_025137.4(SPG11):c.5842dup:p.Ile1948fs	coding	Pathogenic
15	44583881	AG	A	G44583882C	SPG11	NM_025137.4(SPG11):c.5798del:p.Ala1933fs	coding	Pathogenic
15	44583898	G	GCAGATCCTCC	A44583909C	SPG11	NM_025137.4(SPG11):c.5772_5781dup:p.His1928fs	coding	Pathogenic
15	44583910	TA	T	A44583911C	SPG11	NM_025137.4(SPG11):c.5769del:p.Ser1923fs	coding	Pathogenic
15	44583910	T	TA	C44583912A	SPG11	NM_025137.4(SPG11):c.5769dup:p.Met1924fs	coding	Pathogenic
15	44583921	CCT	C	C44583922G	SPG11	NM_025137.4(SPG11):c.5757_5758del:p.Glu1921fs	coding	Pathogenic
15	44583976	GA	G	A44583980T	SPG11	NM_025137.4(SPG11):c.5703del:p.His1902fs	coding	Pathogenic
15	44584146	TTG	T	T44584147G	SPG11	NM_025137.4(SPG11):c.5532_5533del:p.Lys1845fs	coding	Pathogenic
15	44584202	GATCTGTCGAGAAA	G	T44584208G	SPG11	NM_025137.4(SPG11):c.5465_5477del:p.Phe1822fs	coding	Pathogenic
15	44584222	GCT	G	C44584225G	SPG11	NM_025137.3(SPG11):c.5456_5457del:p.Glu1819Alafs	coding	Pathogenic
15	44584268	GCA	G	C44584271G	SPG11	NM_025137.4(SPG11):c.5408_5409TG[1]:p.Cys1804fs	coding	Pathogenic
15	44584278	ATCT	CTCCTCCA	A44584278C	SPG11	NM_025137.4(SPG11):c.5399_5402delinsTGGAGGAG:p.Gln1800fs	coding	Pathogenic
15	44584424	GA	G	A44584429G	SPG11	NM_025137.4(SPG11):c.5255del:p.Phe1752fs	coding	Pathogenic
15	44584504	CT	C	T44584506G	SPG11	NM_025137.4(SPG11):c.5175del:p.Ala1726fs	coding	Pathogenic/Likely_pathogenic
15	44584531	G	GT	A44584536T	SPG11	NM_025137.4(SPG11):c.5148dup:p.His1717fs	coding	Pathogenic
15	44589297	T	TC	A44589302C	SPG11	NM_025137.4(SPG11):c.4860dup:p.Lys1621fs	coding	Pathogenic
15	44589344	AG	A	G44589346A	SPG11	NM_025137.4(SPG11):c.4813del:p.Leu1605fs	coding	Pathogenic
15	44589346	G	GA	C44589350A	SPG11	NM_025137.4(SPG11):c.4811dup:p.Leu1605fs	coding	Pathogenic
15	44589380	AT	A	T44589381G	SPG11	NM_025137.4(SPG11):c.4777del:p.Ile1593fs	coding	Pathogenic
15	44592373	TTC	T	C44592375T	SPG11	NM_025137.4(SPG11):c.4699_4700del:p.Glu1567fs	coding	Pathogenic
15	44595430	AAC	A	C44595434G	SPG11	NM_025137.4(SPG11):c.4460_4461GT[1]:p.Val1488fs	coding	Pathogenic
15	44596208	CTT	C	T44596209G	SPG11	NM_025137.4(SPG11):c.4307_4308del:p.Gln1436fs	coding	Pathogenic
15	44596280	C	TA	C44596280T	SPG11	NM_025137.4(SPG11):c.4237delinsTA:p.Val1413fs	coding	Pathogenic
15	44596299	AG	A	G44596300C	SPG11	NM_025137.4(SPG11):c.4217del:p.Ala1406fs	coding	Pathogenic
15	44596869	AT	A	T44596870G	SPG11	NM_025137.4(SPG11):c.4075del:p.Ile1359fs	coding	Pathogenic
15	44596901	C	CT	G44596903T	SPG11	NM_025137.4(SPG11):c.4043dup:p.Phe1349fs	coding	Pathogenic
15	44598654	T	TA	C44598656A	SPG11	NM_025137.4(SPG11):c.3868dup:p.Tyr1290fs	coding	Pathogenic
15	44598781	G	GT	A44598783T	SPG11	NM_025137.4(SPG11):c.3741dup:p.Pro1248fs	coding	Pathogenic
15	44598802	CTA	C	T44598805A	SPG11	NM_025137.4(SPG11):c.3717_3718TA[1]:p.Ile1240fs	coding	Pathogenic
15	44598811	A	AG	C44598814G	SPG11	NM_025137.4(SPG11):c.3711dup:p.Tyr1238fs	coding	Pathogenic
15	44600488	T	TA	T44600489A	SPG11	NM_025137.4(SPG11):c.3664_3665insT:p.Lys1222fs	coding	Pathogenic
15	44600549	AAT	A	T44600551A	SPG11	NM_025137.4(SPG11):c.3602_3603del:p.Tyr1201fs	coding	Pathogenic
15	44606079	AGG	A	G44606081T	SPG11	NM_025137.4(SPG11):c.3464_3465del:p.Pro1155fs	coding	Pathogenic
15	44608486	A	AG	A44608489G	SPG11	NM_025137.4(SPG11):c.3410dup:p.Pro1137_Ser1138insTer	coding	Pathogenic
15	44608572	TCAAA	T	A44608575G	SPG11	NM_025137.4(SPG11):c.3321_3324del:p.Asn1106_Cys1107insTer	coding	Pathogenic
15	44608575	AAC	A	C44608577G	SPG11	NM_025137.4(SPG11):c.3320_3321del:p.Cys1107fs	coding	Pathogenic
15	44608585	A	AT	C44608590T	SPG11	NM_025137.4(SPG11):c.3311dup:p.Asn1104fs	coding	Pathogenic
15	44610917	C	CAGGG	C44610919G	SPG11	NM_025137.4(SPG11):c.3213_3214insCCCT:p.Val1072fs	coding	Pathogenic
15	44610938	TC	T	C44610939A	SPG11	NM_025137.4(SPG11):c.3192del:p.Ile1065fs	coding	Pathogenic
15	44613497	CTCTT	C	C44613499T	SPG11	NM_025137.4(SPG11):c.3074_3077del:p.Lys1025fs	coding	Pathogenic
15	44613499	C	CT	C44613508T	SPG11	NM_025137.4(SPG11):c.3075dup:p.Glu1026fs	coding	Pathogenic
15	44615487	GTA	ATC	G44615487A	SPG11	NM_025137.4(SPG11):c.2912_2914delinsGAT:p.Ile971_Gln972delinsArgTer	coding	Pathogenic
15	44615551	C	CA	C44615559A	SPG11	NM_025137.4(SPG11):c.2849dup:p.Leu950fs	coding	Pathogenic
15	44615558	A	AC	A44615563C	SPG11	NM_025137.4(SPG11):c.2842dup:p.Val948fs	coding	Pathogenic
15	44620307	TG	T	G44620310T	SPG11	NM_025137.4(SPG11):c.2716del:p.Gln906fs	coding	Pathogenic
15	44620410	G	GA	C44620419A	SPG11	NM_025137.4(SPG11):c.2621-15dup	noncoding	Benign/Likely_benign
15	44621766	A	AC	T44621768C	SPG11	NM_025137.4(SPG11):c.2612dup:p.Ser871fs	coding	Pathogenic
15	44621906	T	TA	G44621907A	SPG11	NM_025137.4(SPG11):c.2472_2473insT:p.Lys825Ter	coding	Pathogenic
15	44621953	AT	A	T44621966A	SPG11	NM_025137.4(SPG11):c.2445-20del	noncoding	Benign
15	44622304	TTC	T	C44622308T	SPG11	NM_025137.4(SPG11):c.2356_2357GA[1]:p.Arg788fs	coding	Pathogenic
15	44622332	CT	C	T44622336A	SPG11	NM_025137.4(SPG11):c.2331del:p.Glu778fs	coding	Pathogenic
15	44622778	AT	A	T44622780G	SPG11	NM_025137.4(SPG11):c.2265del:p.Gln755fs	coding	Pathogenic
15	44622793	CA	C	A44622796C	SPG11	NM_025137.4(SPG11):c.2250del:p.Phe750fs	coding	Pathogenic
15	44626411	T	TA	G44626414A	SPG11	NM_025137.4(SPG11):c.2163dup:p.Ile722fs	coding	Pathogenic
15	44628696	G	GCT	C44628702T	SPG11	NM_025137.4(SPG11):c.2036_2037AG[3]:p.Ser680fs	coding	Pathogenic
15	44628709	T	TTGGGGACATTTTCA	T44628726G	SPG11	NM_025137.4(SPG11):c.2013_2026dup:p.Lys676fs	coding	Pathogenic
15	44629277	GAC	G	C44629279G	SPG11	NM_025137.4(SPG11):c.1845_1846del:p.Ser616fs	coding	Pathogenic
15	44629286	A	AT	G44629287T	SPG11	NM_025137.4(SPG11):c.1837_1838insA:p.Leu613fs	coding	Pathogenic
15	44629304	GAA	G	A44629307G	SPG11	NM_025137.4(SPG11):c.1818_1819del:p.Ser607fs	coding	Pathogenic
15	44633529	AGTGATCAAACTGAT	TGGGAGTA	A44633529T	SPG11	NM_025137.4(SPG11):c.1697_1711delinsTACTCCCA:p.Asp566fs	coding	Pathogenic
15	44633571	TA	T	A44633576G	SPG11	NM_025137.4(SPG11):c.1668del:p.Phe556fs	coding	Pathogenic
15	44648917	AAG	A	A44648920T	SPG11	NM_025137.4(SPG11):c.1547_1548CT[1]:p.Cys518fs	coding	Pathogenic
15	44648985	CAAACA	C	C44648989T	SPG11	NM_025137.4(SPG11):c.1478_1482del:p.Leu493fs	coding	Pathogenic
15	44648995	CAG	C	A44649002T	SPG11	NM_025137.4(SPG11):c.1465_1466CT[3]:p.Leu491fs	coding	Pathogenic
15	44651598	A	AT	G44651600T	SPG11	NM_025137.4(SPG11):c.1348dup:p.Ile450fs	coding	Pathogenic
15	44651599	TG	CA	T44651599C	SPG11	NM_025137.4(SPG11):c.1347_1348inv:p.Ile450Val	coding	Benign
15	44651743	CT	C	T44651746C	SPG11	NM_025137.4(SPG11):c.1203del:p.Asp402fs	coding	Pathogenic
15	44657107	TTTAAG	T	T44657113A	SPG11	NM_025137.4(SPG11):c.847_851CTTAA[1]:p.Asn284fs	coding	Pathogenic
15	44657143	A	ACAAT	C44657150A	SPG11	NM_025137.4(SPG11):c.817_820dup:p.Val274fs	coding	Pathogenic
15	44657182	GAAGTA	G	G44657185T	SPG11	NM_025137.4(SPG11):c.777_781del:p.Ser261fs	coding	Pathogenic
15	44657229	CAT	C	A44657230G	SPG11	NM_025137.4(SPG11):c.733_734del:p.Met245fs	coding	Pathogenic
15	44657258	CAT	C	A44657259G	SPG11	NM_025137.4(SPG11):c.704_705del:p.His235fs	coding	Pathogenic
15	44659091	AA	C	A44659091C	SPG11	NM_025137.4(SPG11):c.654_655delinsG:p.Ser218fs	coding	Pathogenic
15	44659103	CA	C	A44659108G	SPG11	NM_025137.4(SPG11):c.642del:p.Phe214fs	coding	Pathogenic
15	44659212	AAATAT	A	A44659218G	SPG11	NM_025137.4(SPG11):c.524_528ATATT[1]:p.Ile177fs	coding	Pathogenic
15	44659284	CAA	C	A44659286G	SPG11	NM_025137.4(SPG11):c.460_461del:p.Leu154fs	coding	Pathogenic
15	44660445	GTCAATGAGCTTTTGCAATGCC	G	A44660448C	SPG11	NM_025137.4(SPG11):c.408_428del:p.Glu136_Ile142del	coding	Pathogenic
15	44660475	AC	A	C44660476A	SPG11	NM_025137.4(SPG11):c.398del:p.Cys133fs	coding	Pathogenic
15	44660514	CA	C	A44660517T	SPG11	NM_025137.4(SPG11):c.359del:p.Asn119_Leu120insTer	coding	Pathogenic
15	44660558	CG	C	G44660559A	SPG11	NM_025137.4(SPG11):c.315del:p.Ala106fs	coding	Pathogenic
15	44660588	TGCTGTTACGA	T	C44660590A	SPG11	NM_025137.4(SPG11):c.276_285del:p.Arg93fs	coding	Pathogenic
15	44660621	GA	G	A44660628G	SPG11	NM_025137.4(SPG11):c.258-6del	noncoding	Benign/Likely_benign
15	44663444	C	CAA	G44663448A	SPG11	NM_025137.4(SPG11):c.202_203dup:p.Leu68fs	coding	Pathogenic
15	44674231	CTGGAACAGGAGGG	C	T44674232A	PATL2	NM_001145112.1(PATL2):c.223-14_223-2del	noncoding	Pathogenic
15	45069018	CG	C	G45069023C	SORD	NM_003104.6(SORD):c.757del:p.Ala253fs	coding	Pathogenic
15	45101218	T	TC	G45101221C	DUOX2	NM_001363711.2(DUOX2):c.2907dup:p.Thr970fs	coding	Pathogenic
15	45101227	TGAAC	T	A45101230G	DUOX2	NM_001363711.2(DUOX2):c.2895_2898del:p.Phe966fs	coding	Pathogenic/Likely_pathogenic
15	45109917	C	CCTGAGAGCTTGGGAGCTTT	G45109937C	DUOX2	NM_001363711.2(DUOX2):c.1085_1103dup:p.Val369fs	coding	Pathogenic
15	45111496	T	TC	G45111503C	DUOX2	NM_001363711.2(DUOX2):c.602dup:p.Gln202fs	coding	Pathogenic/Likely_pathogenic
15	45114612	C	CTG	G45114617T	DUOXA2	NM_207581.4(DUOXA2):c.8_9TG[3]:p.Trp4fs	coding	Pathogenic
15	45116587	T	TA	C45116589A	DUOXA2	NM_207581.4(DUOXA2):c.413dup:p.Tyr138Ter	coding	Pathogenic
15	45117838	CTT	C	T45117839A	DUOXA2	NM_207581.4(DUOXA2):c.893_894del:p.Leu298fs	coding	Benign
15	45153493	AAT	A	A45153494G	DUOX1	NM_175940.3(DUOX1):c.3524+15_3524+16del	noncoding	Benign
15	45361374	C	CTG	A45361376G	GATM	NM_001482.3(GATM):c.*734_*735insCA	noncoding	Benign
15	45363947	A	AT	A45363949T	GATM	NM_001482.3(GATM):c.1111dup:p.Met371fs	coding	Pathogenic
15	45364870	C	CA	C45364879A	GATM	NM_001482.3(GATM):c.979-18dup	noncoding	Benign
15	45366064	AG	A	G45366067T	GATM	NM_001482.3(GATM):c.959del:p.Pro320fs	coding	Pathogenic
15	45421122	CTG	C	G45421124A	SPATA5L1	NM_024063.3(SPATA5L1):c.2176_2177del:p.Val726fs	coding	Pathogenic
15	45609329	A	AAAAC	C45609352A	BLOC1S6	NM_012388.3(BLOC1S6):c.*2818_*2821ACAA[6]	noncoding	Benign
15	48134886	CT	C	T48134887C	SLC24A5	NM_205850.3(SLC24A5):c.493del:p.Ser165fs	coding	Pathogenic
15	48136732	CT	C	T48136733G	SLC24A5	NM_205850.3(SLC24A5):c.641del:p.Leu214fs	coding	Pathogenic
15	48142202	C	CT	A48142210T	SLC24A5	NM_205850.3(SLC24A5):c.1361dup:p.Leu454fs	coding	Pathogenic
15	48234925	GC	G	C48234926T	SLC12A1	NM_000338.3(SLC12A1):c.1137del:p.Phe380fs	coding	Pathogenic
15	48234945	AT	A	T48234952C	SLC12A1	NM_000338.3(SLC12A1):c.1163del:p.Phe388fs	coding	Pathogenic/Likely_pathogenic
15	48249575	C	CG	A48249578G	SLC12A1	NM_000338.3(SLC12A1):c.1687dup:p.Glu563fs	coding	Pathogenic
15	48251656	CT	C	T48251661G	SLC12A1	NM_000338.3(SLC12A1):c.1833del:p.Phe611fs	coding	Pathogenic
15	48259183	C	CT	A48259192T	SLC12A1	NM_000338.3(SLC12A1):c.2043-9dup	noncoding	Benign
15	48259250	TG	T	G48259252A	SLC12A1	NM_000338.3(SLC12A1):c.2095del:p.Asp699fs	coding	Pathogenic
15	48267643	CT	C	T48267648A	SLC12A1	NM_000338.3(SLC12A1):c.2242del:p.Tyr748fs	coding	Pathogenic
15	48285112	TAG	T	G48285118T	SLC12A1	NM_001184832.2(SLC12A1):c.2494_2495GA[2]:p.Arg833fs	coding	Pathogenic
15	48288429	T	TC	T48288431C	SLC12A1	NM_000338.3(SLC12A1):c.2787dup:p.Thr931fs	coding	Pathogenic
15	48411061	AT	A	T48411064G	FBN1	NM_000138.4(FBN1):c.8544del:p.Lys2848fs	coding	Pathogenic
15	48411061	ATT	A	T48411063G	FBN1	NM_000138.4(FBN1):c.8543_8544del:p.Lys2848fs	coding	Pathogenic
15	48411076	GGTTAA	G	A48411080C	FBN1	NM_000138.5(FBN1):c.8525_8529del:p.Leu2842fs	coding	Pathogenic
15	48411082	GTTCT	G	C48411089T	FBN1	NM_000138.4(FBN1):c.8516_8519AGAA[1]:p.Lys2840fs	coding	Pathogenic
15	48411128	G	GCTAT	G48411129C	FBN1	NM_000138.5(FBN1):c.8477_8478insATAG:p.Tyr2827_Ser2828insTer	coding	Pathogenic
15	48411189	A	AT	A48411194T	FBN1	NM_000138.4(FBN1):c.8416dup:p.Ile2806fs	coding	Pathogenic
15	48411200	G	GC	A48411203C	FBN1	NM_000138.4(FBN1):c.8405dup:p.Phe2803fs	coding	Pathogenic
15	48411267	A	AG	T48411269G	FBN1	NM_000138.5(FBN1):c.8338dup:p.Leu2780fs	coding	Pathogenic
15	48411314	AAAGATGGCTGTCTTCTC	A	G48411317C	FBN1	NM_000138.4(FBN1):c.8275_8291del:p.Glu2759fs	coding	Pathogenic
15	48411340	AA	TCCT	A48411340T	FBN1	NM_000138.5(FBN1):c.8265_8266delinsAGGA:p.Ser2755fs	coding	Pathogenic
15	48411346	CA	C	A48411348G	FBN1	NM_000138.5(FBN1):c.8259del:p.Ala2754fs	coding	Pathogenic
15	48411349	GA	G	A48411350C	FBN1	NM_000138.4(FBN1):c.8256del:p.Ala2754fs	coding	Pathogenic
15	48412588	G	GT	C48412592T	FBN1	NM_000138.4(FBN1):c.8206dup:p.Thr2736fs	coding	Pathogenic
15	48412612	CTGCCCCGT	C	G48412614T	FBN1	NM_000138.4(FBN1):c.8175_8182del:p.Arg2726fs	coding	Pathogenic
15	48412619	GTTTGGGGTAGCCATTGATCT	G	T48412621A	FBN1	NM_000138.4(FBN1):c.8156_8175del:p.Lys2719fs	coding	Pathogenic
15	48412638	CTT	C	T48412639A	FBN1	NM_000138.4(FBN1):c.8155_8156del:p.Lys2719fs	coding	Pathogenic
15	48412640	T	TA	C48412642A	FBN1	NM_000138.4(FBN1):c.8154dup:p.Lys2719Ter	coding	Pathogenic
15	48412692	GAC	G	C48412694G	FBN1	NM_000138.4(FBN1):c.8101_8102del:p.Val2701fs	coding	Pathogenic
15	48412730	CA	C	A48412731G	FBN1	NM_000138.4(FBN1):c.8064del:p.Gly2689fs	coding	Pathogenic
15	48412734	AAC	A	C48412738G	FBN1	NM_000138.5(FBN1):c.8057_8058GT[1]:p.Val2687fs	coding	Pathogenic
15	48415535	CC	A	C48415535A	FBN1	NM_000138.4(FBN1):c.8051_8051+1delinsT	coding	Pathogenic
15	48415554	T	TA	C48415557A	FBN1	NM_000138.5(FBN1):c.8032dup:p.Tyr2678fs	coding	Pathogenic
15	48415612	A	AG	C48415618G	FBN1	NM_000138.4(FBN1):c.7974dup:p.Cys2659fs	coding	Pathogenic
15	48415612	AG	A	G48415617C	FBN1	NM_000138.5(FBN1):c.7974del:p.Cys2659fs	coding	Pathogenic
15	48415627	AG	A	G48415628C	FBN1	NM_000138.5(FBN1):c.7959del:p.Ser2654fs	coding	Pathogenic
15	48415705	T	TC	A48415710C	FBN1	NM_000138.4(FBN1):c.7881dup:p.Ser2628fs	coding	Pathogenic
15	48420692	C	CA	C48420694A	FBN1	NM_000138.4(FBN1):c.7813dup:p.Cys2605fs	coding	Pathogenic
15	48420720	AG	A	G48420721C	FBN1	NM_000138.4(FBN1):c.7785del:p.Tyr2596fs	coding	Pathogenic
15	48420725	TG	T	G48420730C	FBN1	NM_000138.4(FBN1):c.7780del:p.Gln2594fs	coding	Pathogenic
15	48420725	T	TG	C48420731G	FBN1	NM_000138.4(FBN1):c.7780dup:p.Gln2594fs	coding	Pathogenic
15	48420745	GC	G	C48420750A	FBN1	NM_000138.5(FBN1):c.7760del:p.Gly2587fs	coding	Pathogenic
15	48420776	C	CA	G48420778A	FBN1	NM_000138.4(FBN1):c.7729dup:p.Cys2577fs	coding	Pathogenic
15	48421600	GGC	G	G48421601A	FBN1	NM_000138.4(FBN1):c.7655_7656del:p.Cys2552fs	coding	Pathogenic
15	48421601	GC	TT	G48421601T	FBN1	NM_000138.4(FBN1):c.7655_7656delinsAA:p.Cys2552Ter	coding	Pathogenic
15	48421606	C	CT	A48421607T	FBN1	NM_000138.4(FBN1):c.7650_7651insA:p.Glu2551fs	coding	Pathogenic
15	48421635	CA	C	A48421638T	FBN1	NM_000138.5(FBN1):c.7621del:p.Cys2541fs	coding	Pathogenic
15	48421657	GA	G	A48421658T	FBN1	NM_000138.4(FBN1):c.7599del:p.Leu2534fs	coding	Pathogenic
15	48421952	CAATGCAG	TCCAAC	C48421952T	FBN1	NM_000138.5(FBN1):c.7563_7570delinsGTTGGA:p.Cys2522fs	coding	Pathogenic
15	48421962	CG	C	G48421963T	FBN1	NM_000138.4(FBN1):c.7559del:p.Thr2520fs	coding	Pathogenic
15	48422014	GT	G	T48422015G	FBN1	NM_000138.4(FBN1):c.7507del:p.Thr2503fs	coding	Pathogenic
15	48422041	TGTTGCTTG	T	T48422047A	FBN1	NM_000138.5(FBN1):c.7473_7480del:p.Lys2492fs	coding	Pathogenic
15	48425367	AC	A	C48425369T	FBN1	NM_000138.5(FBN1):c.7453+1del	noncoding	Pathogenic
15	48425400	GT	G	T48425401A	FBN1	NM_000138.4(FBN1):c.7421del:p.Tyr2474fs	coding	Pathogenic
15	48425409	CG	C	G48425412C	FBN1	NM_000138.4(FBN1):c.7412del:p.Pro2471fs	coding	Pathogenic
15	48425450	T	TA	T48425455A	FBN1	NM_000138.4(FBN1):c.7371dup:p.Ile2458fs	coding	Pathogenic
15	48425478	G	GCACTCGTTCAGATC	T48425493C	FBN1	NM_000138.5(FBN1):c.7331-1_7343dup	coding	Pathogenic
15	48425745	AG	A	G48425747A	FBN1	NM_000138.4(FBN1):c.7323del:p.Cys2442fs	coding	Pathogenic
15	48425781	TA	T	A48425782C	FBN1	NM_000138.5(FBN1):c.7287del:p.Ile2428_Cys2429insTer	coding	Pathogenic
15	48425817	A	AT	C48425820T	FBN1	NM_000138.4(FBN1):c.7251dup:p.Cys2418fs	coding	Pathogenic
15	48425836	A	ATCGTG	A48425842T	FBN1	NM_000138.4(FBN1):c.7228_7232dup:p.Val2412fs	coding	Pathogenic
15	48425843	ATAACC	A	A48425845T	FBN1	NM_000138.4(FBN1):c.7221_7225del:p.Lys2407fs	coding	Pathogenic
15	48427592	G	GC	A48427595C	FBN1	NM_000138.5(FBN1):c.7178dup:p.Arg2394fs	coding	Pathogenic
15	48427602	CAG	C	A48427605T	FBN1	NM_000138.4(FBN1):c.7165_7166CT[1]:p.Cys2390fs	coding	Pathogenic
15	48427650	TG	T	G48427654A	FBN1	NM_000138.4(FBN1):c.7120del:p.His2374fs	coding	Pathogenic
15	48427651	G	GGTCC	G48427653T	FBN1	NM_000138.4(FBN1):c.7119_7120insGGAC:p.His2374fs	coding	Pathogenic
15	48427677	CAG	C	A48427678C	FBN1	NM_000138.4(FBN1):c.7092_7093del:p.Cys2364fs	coding	Pathogenic
15	48427690	A	AT	G48427694T	FBN1	NM_000138.5(FBN1):c.7080dup:p.Ser2361fs	coding	Pathogenic
15	48427712	GC	G	C48427713T	FBN1	NM_000138.4(FBN1):c.7058del:p.Ser2353fs	coding	Pathogenic
15	48427716	GAGCCGATCTGACACATGTTTTGT	G	C48427720A	FBN1	NM_000138.5(FBN1):c.7032_7054del:p.Asn2346fs	coding	Pathogenic
15	48427730	CAT	C	A48427731G	FBN1	NM_000138.5(FBN1):c.7039_7040del:p.Met2347fs	coding	Pathogenic
15	48427733	G	GT	G48427738T	FBN1	NM_000138.4(FBN1):c.7037dup:p.Asn2346fs	coding	Pathogenic
15	48427739	T	TAGCACCTCTGTGAAGC	T48427758C	FBN1	NM_000138.4(FBN1):c.7016_7031dup:p.Gln2345fs	coding	Pathogenic
15	48427805	TC	T	C48427806A	FBN1	NM_000138.4(FBN1):c.6998-33del	noncoding	Benign
15	48428376	TA	T	A48428379C	FBN1	NM_000138.4(FBN1):c.6966del:p.Phe2322fs	coding	Pathogenic
15	48428379	AC	A	C48428382A	FBN1	NM_000138.4(FBN1):c.6963del:p.Phe2322fs	coding	Pathogenic
15	48428388	T	TA	C48428390A	FBN1	NM_000138.5(FBN1):c.6954dup:p.Asn2319Ter	coding	Pathogenic
15	48428399	G	GTGTA	G48428404T	FBN1	NM_000138.4(FBN1):c.6940_6943dup:p.Thr2315fs	coding	Pathogenic
15	48428456	TG	T	G48428457A	FBN1	NM_000138.4(FBN1):c.6886del:p.Gln2296fs	coding	Pathogenic
15	48430670	CCTACACAGCCTTCTCCATCAGGTCTCCGCTGATACCCGGGTCCACAGATGCACATATATGTGCCAATGAGGTTCTTGCATTCCATTTGTTTTTCAGTACAGTCATGTTTTCCCTCTTCACACTCATCCTCAT	C	A48430673G	FBN1	NM_000138.4(FBN1):c.6740_6871del	coding	Pathogenic
15	48430704	AC	A	C48430707G	FBN1	NM_000138.5(FBN1):c.6837del:p.Tyr2280fs	coding	Pathogenic
15	48430707	CG	C	G48430710T	FBN1	NM_000138.5(FBN1):c.6834del:p.Tyr2280fs	coding	Pathogenic
15	48430737	TG	T	G48430738A	FBN1	NM_000138.4(FBN1):c.6804del:p.Ile2269fs	coding	Pathogenic
15	48430741	GT	G	T48430743C	FBN1	NM_000138.4(FBN1):c.6800del:p.Asn2267fs	coding	Pathogenic
15	48430758	G	GA	T48430759A	FBN1	NM_000138.5(FBN1):c.6783_6784insT:p.Gln2262fs	coding	Pathogenic
15	48430780	TC	T	C48430783T	FBN1	NM_000138.4(FBN1):c.6761del:p.Gly2254fs	coding	Pathogenic
15	48430790	CA	C	A48430791C	FBN1	NM_000138.5(FBN1):c.6751del:p.Cys2251fs	coding	Pathogenic
15	48432879	A	ACGGT	T48432885G	FBN1	NM_000138.4(FBN1):c.6722_6725dup:p.Arg2243fs	coding	Pathogenic
15	48432885	TTC	T	C48432889G	FBN1	NM_000138.5(FBN1):c.6716_6717GA[1]:p.Glu2240fs	coding	Pathogenic
15	48432903	C	CA	C48432905A	FBN1	NM_000138.4(FBN1):c.6701dup:p.Tyr2236fs	coding	Pathogenic
15	48432905	CG	C	G48432908A	FBN1	NM_000138.5(FBN1):c.6699del:p.Val2234fs	coding	Pathogenic
15	48432911	AT	A	T48432914G	FBN1	NM_000138.4(FBN1):c.6693del:p.Lys2231fs	coding	Pathogenic
15	48432922	T	TA	T48432924A	FBN1	NM_000138.4(FBN1):c.6682dup:p.Tyr2228fs	coding	Pathogenic
15	48432933	AGT	A	G48432936T	FBN1	NM_000138.4(FBN1):c.6668_6669AC[1]:p.Thr2224fs	coding	Pathogenic
15	48432954	ACAGAG	A	C48432960G	FBN1	NM_000138.4(FBN1):c.6641_6645CTCTG[1]:p.Leu2216fs	coding	Pathogenic
15	48432959	GC	G	C48432960A	FBN1	NM_000138.4(FBN1):c.6645del:p.Leu2216fs	coding	Pathogenic
15	48432977	ATTCAT	A	C48432980A	FBN1	NM_000138.4(FBN1):c.6623_6627del:p.Asn2208fs	coding	Pathogenic
15	48434593	CCTTCACATGTCATCATTGGACCGGGCTCAAATCCCTCCTCGCAGGTGCATTCAAAACCTCCAATCACATTCTTGCAGGTTCCATTTCCACAAGGATTGCCAACAGAACATTCATCAGTAT	C	T48434596G	FBN1	NM_000138.4(FBN1):c.6497_6616del	coding	Pathogenic
15	48434596	T	TC	A48434598C	FBN1	NM_000138.5(FBN1):c.6613dup:p.Glu2205fs	coding	Pathogenic
15	48434599	CAT	C	A48434600G	FBN1	NM_000138.4(FBN1):c.6609_6610del:p.Thr2203_Cys2204insTer	coding	Pathogenic
15	48434657	T	TCA	T48434662C	FBN1	NM_000138.4(FBN1):c.6549_6550TG[3]:p.Ile2185Ter	coding	Pathogenic
15	48434668	CA	C	A48434669G	FBN1	NM_000138.4(FBN1):c.6541del:p.Cys2181fs	coding	Pathogenic
15	48436959	AC	A	C48436961T	FBN1	NM_000138.4(FBN1):c.6496+1del	noncoding	Pathogenic
15	48437002	TCGCAG	T	C48437005A	FBN1	NM_000138.4(FBN1):c.6450_6454del:p.Cys2151fs	coding	Pathogenic
15	48437049	G	GAC	T48437053C	FBN1	NM_000138.4(FBN1):c.6406_6407dup:p.Cys2137fs	coding	Pathogenic
15	48437054	C	CG	T48437058G	FBN1	NM_000138.4(FBN1):c.6402dup:p.Asp2135fs	coding	Pathogenic
15	48437373	TC	T	C48437374T	FBN1	NM_000138.4(FBN1):c.6327del:p.Ile2110fs	coding	Pathogenic
15	48437380	G	GA	G48437383A	FBN1	NM_000138.5(FBN1):c.6320dup:p.Arg2108fs	coding	Pathogenic
15	48437814	TC	T	C48437817T	FBN1	NM_000138.5(FBN1):c.6266del:p.Gly2089fs	coding	Pathogenic
15	48437917	TCTG	T	T48437919A	FBN1	NM_000138.5(FBN1):c.6164-3_6164-1del	coding	Pathogenic
15	48441720	CCTTGGCACCTTCTTCCACTGGAGGACAAGGAAAACCCTTCTGGACACAGACATTTGAAGCTGCCTTCAGTGTTACTGCATGTGCCCAGGGCACAAATTTCTGGCTCTTCGACACACTCATCAATAT	C	T48441723A	FBN1	NM_000138.4(FBN1):c.6038_6163del	coding	Pathogenic
15	48441733	TTCCAC	T	C48441735G	FBN1	NM_000138.4(FBN1):c.6146_6150del:p.Ser2049fs	coding	Pathogenic
15	48441734	TC	T	C48441736A	FBN1	NM_000138.5(FBN1):c.6149del:p.Gly2050fs	coding	Pathogenic
15	48441744	GA	G	A48441745C	FBN1	NM_000138.5(FBN1):c.6139del:p.Ser2047fs	coding	Pathogenic
15	48441753	AACCCTTCTGG	A	C48441756A	FBN1	NM_000138.5(FBN1):c.6121_6130del:p.Pro2041fs	coding	Pathogenic
15	48441754	AC	A	C48441757T	FBN1	NM_000138.4(FBN1):c.6129del:p.Ser2045fs	coding	Pathogenic
15	48441793	T	TA	C48441795A	FBN1	NM_000138.5(FBN1):c.6090dup:p.Asn2031Ter	coding	Pathogenic
15	48441816	AT	A	T48441819C	FBN1	NM_000138.5(FBN1):c.6067del:p.Ile2023fs	coding	Pathogenic
15	48441827	TTCGACACAC	T	G48441830A	FBN1	NM_000138.4(FBN1):c.6048_6056del:p.Cys2017_Glu2019del	coding	Pathogenic
15	48441830	GAC	G	A48441835T	FBN1	NM_000138.5(FBN1):c.6052_6053del:p.Val2018fs	coding	Pathogenic
15	48444554	AT	A	T48444558G	FBN1	NM_000138.4(FBN1):c.6023del:p.Asn2008fs	coding	Pathogenic
15	48444572	AG	A	G48444574T	FBN1	NM_000138.4(FBN1):c.6005del:p.Pro2002fs	coding	Pathogenic
15	48444599	AT	A	T48444600C	FBN1	NM_000138.5(FBN1):c.5978del:p.Asp1993fs	coding	Pathogenic
15	48444616	T	TA	C48444618A	FBN1	NM_000138.4(FBN1):c.5961dup:p.Thr1988fs	coding	Pathogenic
15	48444620	T	TG	T48444623G	FBN1	NM_000138.4(FBN1):c.5957dup:p.Gly1987fs	coding	Pathogenic
15	48444929	T	TAA	G48444931A	FBN1	NM_000138.4(FBN1):c.5918-270_5918-269insTT	noncoding	Benign
15	48445380	AC	A	C48445381A	FBN1	NM_000138.5(FBN1):c.5912del:p.Cys1971fs	coding	Pathogenic
15	48445387	CT	C	T48445388C	FBN1	NM_000138.5(FBN1):c.5905del:p.Arg1969fs	coding	Pathogenic
15	48445394	CT	C	T48445395G	FBN1	NM_000138.4(FBN1):c.5898del:p.Asp1967fs	coding	Pathogenic
15	48445399	GC	G	C48445401A	FBN1	NM_000138.4(FBN1):c.5893del:p.Ala1965fs	coding	Pathogenic
15	48445429	TG	T	G48445431A	FBN1	NM_000138.4(FBN1):c.5863del:p.Gln1955fs	coding	Pathogenic
15	48445429	T	TGGAA	A48445434G	FBN1	NM_000138.5(FBN1):c.5860_5863dup:p.Gln1955fs	coding	Pathogenic
15	48445431	GA	G	A48445434G	FBN1	NM_000138.4(FBN1):c.5861del:p.Phe1954fs	coding	Pathogenic
15	48445442	C	CTGTAT	A48445449G	FBN1	NM_000138.5(FBN1):c.5846_5850dup:p.Val1951fs	coding	Pathogenic
15	48445461	A	ATT	C48445465T	FBN1	NM_000138.5(FBN1):c.5830_5831dup:p.Asn1944fs	coding	Pathogenic
15	48445468	CAA	C	A48445470G	FBN1	NM_000138.4(FBN1):c.5823_5824del:p.Cys1942fs	coding	Pathogenic
15	48445475	TC	T	C48445478A	FBN1	NM_000138.4(FBN1):c.5817del:p.Asn1940fs	coding	Pathogenic
15	48445499	CAACATCTGCAGAA	C	C48445502A	FBN1	NM_000138.4(FBN1):c.5789-8_5793del	coding	Pathogenic
15	48446737	AC	A	C48446739A	FBN1	NM_000138.4(FBN1):c.5756del:p.Gly1919fs	coding	Pathogenic
15	48446758	GA	G	A48446760G	FBN1	NM_000138.4(FBN1):c.5735del:p.Phe1912fs	coding	Pathogenic
15	48446773	GT	G	T48446775C	FBN1	NM_000138.4(FBN1):c.5720del:p.Asn1907fs	coding	Pathogenic
15	48446798	GC	G	C48446799A	FBN1	NM_000138.5(FBN1):c.5695del:p.Ala1899fs	coding	Pathogenic
15	48446802	CTCTT	C	T48446805A	FBN1	NM_000138.4(FBN1):c.5688_5691del:p.Arg1897fs	coding	Pathogenic
15	48446804	CTT	C	T48446806C	FBN1	NM_000138.4(FBN1):c.5688_5689del:p.Asp1898fs	coding	Pathogenic
15	48446807	TC	T	C48446808A	FBN1	NM_000138.4(FBN1):c.5686del:p.Glu1896fs	coding	Pathogenic
15	48446809	AC	A	C48446810A	FBN1	NM_000138.4(FBN1):c.5684del:p.Cys1895fs	coding	Pathogenic
15	48446817	TTA	T	A48446819G	FBN1	NM_000138.5(FBN1):c.5675_5676del:p.Ile1892fs	coding	Pathogenic
15	48446820	TGTCT	AGTCA	T48446820A	FBN1	NM_000138.4(FBN1):c.5672-2_5674delinsTGACT	coding	Pathogenic
15	48448739	G	GA	T48448747A	FBN1	NM_000138.4(FBN1):c.5671+22dup	noncoding	Benign
15	48448802	ACC	A	C48448803A	FBN1	NM_000138.4(FBN1):c.5635_5636del:p.Gly1879fs	coding	Pathogenic
15	48448825	AG	A	G48448826C	FBN1	NM_000138.4(FBN1):c.5613del:p.Tyr1873fs	coding	Pathogenic
15	48448825	AGC	A	G48448826T	FBN1	NM_000138.4(FBN1):c.5612_5613del:p.Ser1871fs	coding	Pathogenic
15	48448844	G	GCA	T48448848A	FBN1	NM_000138.4(FBN1):c.5593_5594dup:p.Ile1866fs	coding	Pathogenic
15	48448867	TG	T	G48448871A	FBN1	NM_000138.5(FBN1):c.5571del:p.Asn1858fs	coding	Pathogenic
15	48452570	TG	T	G48452571T	FBN1	NM_000138.4(FBN1):c.5536del:p.Gln1846fs	coding	Pathogenic
15	48452586	AG	A	G48452587C	FBN1	NM_000138.4(FBN1):c.5520del:p.Phe1841fs	coding	Pathogenic
15	48452623	T	TGCAGTGTTGATGCA	T48452638G	FBN1	NM_000138.4(FBN1):c.5470_5483dup:p.Gly1829fs	coding	Pathogenic
15	48456642	CA	C	A48456645C	FBN1	NM_000138.4(FBN1):c.5416del:p.Cys1806fs	coding	Pathogenic
15	48456671	TC	T	C48456674A	FBN1	NM_000138.5(FBN1):c.5387del:p.Gly1796fs	coding	Pathogenic
15	48456695	GCT	AGTC	G48456695A	FBN1	NM_000138.4(FBN1):c.5362_5364delinsGACT:p.Ser1788fs	coding	Pathogenic
15	48456747	C	CG	C48456750G	FBN1	NM_000138.5(FBN1):c.5311dup:p.Arg1771fs	coding	Pathogenic
15	48460245	CCAACGGGTAAACCGGTATAAATGTCGATGACAAAGCCTGGCCTTTGACTTCCACAGAGTGTAGCAAACTCAT	C	A48460247T	FBN1	NM_000138.4(FBN1):c.5225_5296del	coding	Pathogenic
15	48460292	ACTTCCACAGAGTGTAGCAAACTCAT	A	T48460295G	FBN1	NM_000138.4(FBN1):c.5225_5249del	coding	Pathogenic
15	48460294	T	TTCCA	C48460299T	FBN1	NM_000138.5(FBN1):c.5244_5247dup:p.Ser1750fs	coding	Pathogenic
15	48460296	CCA	C	C48460299G	FBN1	NM_000138.4(FBN1):c.5242_5243TG[1]:p.Cys1748fs	coding	Pathogenic
15	48460305	G	GTA	G48460308T	FBN1	NM_000138.4(FBN1):c.5235_5236dup:p.Thr1746fs	coding	Pathogenic
15	48463080	A	ACCTGTAC	T48463088C	FBN1	NM_000138.4(FBN1):c.5219_5224+1dup	noncoding	Pathogenic
15	48463088	TTGGGA	T	T48463094C	FBN1	NM_000138.4(FBN1):c.5208_5212TCCCA[1]:p.Ile1738fs	coding	Pathogenic
15	48463101	C	CTGT	C48463106G	FBN1	NM_000138.4(FBN1):c.5202_5204dup:p.Gln1735dup	coding	Pathogenic
15	48463102	T	TG	T48463104G	FBN1	NM_000138.4(FBN1):c.5203dup:p.Gln1735fs	coding	Pathogenic
15	48463115	TG	T	G48463116T	FBN1	NM_000138.5(FBN1):c.5190del:p.Asn1730fs	coding	Pathogenic
15	48463116	GT	G	T48463118C	FBN1	NM_000138.5(FBN1):c.5189del:p.Asn1730fs	coding	Pathogenic
15	48463168	T	TTGAA	A48463174G	FBN1	NM_000138.5(FBN1):c.5134_5137dup:p.Asn1713fs	coding	Pathogenic
15	48463208	AGTAGTTTCTGTAGCACAAACTTCT	A	G48463209T	FBN1	NM_000138.4(FBN1):c.5074_5097del:p.Arg1692_Tyr1699del	coding	Pathogenic
15	48463211	AG	A	G48463212T	FBN1	NM_000138.4(FBN1):c.5094del:p.Tyr1699fs	coding	Pathogenic
15	48463212	GT	G	T48463215C	FBN1	NM_000138.4(FBN1):c.5093del:p.Asn1698fs	coding	Pathogenic
15	48463232	TTCTCATA	T	C48463236A	FBN1	NM_000138.4(FBN1):c.5067_5073delTATGAGA	coding	Pathogenic
15	48463253	T	TA	G48463262A	FBN1	NM_000138.4(FBN1):c.5066-21dup	noncoding	Benign
15	48463901	AT	A	T48463902G	FBN1	NM_000138.4(FBN1):c.5062del:p.Met1688fs	coding	Pathogenic
15	48463906	AT	A	T48463908A	FBN1	NM_000138.4(FBN1):c.5057del:p.Asn1686fs	coding	Pathogenic
15	48463988	CCA	C	C48463991G	FBN1	NM_000138.4(FBN1):c.4972_4973TG[1]:p.Cys1658fs	coding	Pathogenic
15	48463998	CA	C	A48463999G	FBN1	NM_000138.4(FBN1):c.4965del:p.Gly1656fs	coding	Pathogenic
15	48464007	CA	C	A48464008C	FBN1	NM_000138.4(FBN1):c.4956del:p.Cys1652fs	coding	Pathogenic
15	48465582	GTA	G	A48465584C	FBN1	NM_000138.4(FBN1):c.4926_4927del:p.Arg1644fs	coding	Pathogenic
15	48465621	TG	T	G48465623A	FBN1	NM_000138.4(FBN1):c.4888del:p.Gln1630fs	coding	Pathogenic
15	48465628	TC	T	C48465631A	FBN1	NM_000138.5(FBN1):c.4881del:p.Ser1628fs	coding	Pathogenic
15	48465644	A	ACAT	T48465648C	FBN1	NM_000138.5(FBN1):c.4863_4865dup:p.Cys1622Ter	coding	Pathogenic
15	48465671	T	TAGCTCCTGGC	C48465683G	FBN1	NM_000138.4(FBN1):c.4829_4838dup:p.Leu1616fs	coding	Pathogenic
15	48465689	A	TG	A48465689T	FBN1	NM_000138.4(FBN1):c.4821delinsCA:p.Asp1608fs	coding	Pathogenic
15	48465792	TC	T	C48465794A	FBN1	NM_000138.4(FBN1):c.4813del:p.Glu1605fs	coding	Pathogenic
15	48465824	AC	A	C48465826T	FBN1	NM_000138.5(FBN1):c.4781del:p.Gly1594fs	coding	Pathogenic
15	48465834	CCA	C	C48465835G	FBN1	NM_000138.4(FBN1):c.4770_4771del:p.Gly1591fs	coding	Pathogenic
15	48465846	AT	A	T48465850G	FBN1	NM_000138.4(FBN1):c.4759del:p.Ile1587fs	coding	Pathogenic
15	48467939	TG	T	G48467940T	FBN1	NM_000138.5(FBN1):c.4745del:p.Thr1582fs	coding	Pathogenic
15	48467963	AC	A	C48467964A	FBN1	NM_000138.4(FBN1):c.4721del:p.Cys1574fs	coding	Pathogenic
15	48467980	C	CT	A48467984T	FBN1	NM_000138.4(FBN1):c.4704dup:p.Ala1569fs	coding	Pathogenic
15	48468016	CACCA	C	C48468019T	FBN1	NM_000138.4(FBN1):c.4665_4668del:p.Gly1556fs	coding	Pathogenic
15	48468045	G	GT	A48468047T	FBN1	NM_000138.5(FBN1):c.4639dup:p.Thr1547fs	coding	Pathogenic
15	48468059	TC	GAATGGAGATTAT	T48468059G	FBN1	NM_000138.5(FBN1):c.4625_4626delinsATAATCTCCATTC:p.Gly1542fs	coding	Pathogenic
15	48468096	CG	C	G48468099T	FBN1	NM_000138.5(FBN1):c.4588del:p.Arg1530fs	coding	Pathogenic
15	48468431	TG	T	G48468434T	FBN1	NM_000138.4(FBN1):c.4562del:p.Pro1521fs	coding	Pathogenic/Likely_pathogenic
15	48468438	AG	A	G48468439T	FBN1	NM_000138.4(FBN1):c.4555del:p.Glu1518_Leu1519insTer	coding	Pathogenic
15	48468459	TCACA	T	C48468460G	FBN1	NM_000138.4(FBN1):c.4531_4534del:p.Cys1511fs	coding	Pathogenic
15	48468482	GTTGACACAGTT	G	T48468483C	FBN1	NM_000138.4(FBN1):c.4501_4511del:p.Asn1501fs	coding	Pathogenic
15	48470663	T	TC	G48470665C	FBN1	NM_000138.4(FBN1):c.4429dup:p.Glu1477fs	coding	Pathogenic
15	48470667	AG	A	G48470668C	FBN1	NM_000138.4(FBN1):c.4425del:p.Tyr1476fs	coding	Pathogenic
15	48470677	ACACT	A	T48470681A	FBN1	NM_000138.4(FBN1):c.4412_4415del:p.Glu1471fs	coding	Pathogenic
15	48470682	C	CA	C48470684A	FBN1	NM_000138.5(FBN1):c.4410dup:p.Glu1471Ter	coding	Pathogenic
15	48470687	CG	C	G48470689A	FBN1	NM_000138.4(FBN1):c.4405del:p.Arg1469fs	coding	Pathogenic
15	48470722	GAC	G	C48470726G	FBN1	NM_000138.4(FBN1):c.4367_4368GT[1]:p.Val1457fs	coding	Pathogenic
15	48470747	T	TAGTG	C48470748A	FBN1	NM_000138.5(FBN1):c.4345_4346insCACT:p.Glu1449fs	coding	Pathogenic
15	48472567	GT	G	T48472568C	FBN1	NM_000138.5(FBN1):c.4319del:p.Asp1440fs	coding	Pathogenic
15	48472584	AG	A	G48472585C	FBN1	NM_000138.5(FBN1):c.4302del:p.Phe1435fs	coding	Pathogenic
15	48472627	GCACTGGC	G	C48472630T	FBN1	NM_000138.4(FBN1):c.4253_4259del:p.Gly1418fs	coding	Pathogenic
15	48472659	CAG	C	A48472662C	FBN1	NM_000138.5(FBN1):c.4226_4227del:p.Cys1408_Ser1409insTer	coding	Pathogenic/Likely_pathogenic
15	48472664	C	CA	C48472666A	FBN1	NM_000138.4(FBN1):c.4222dup:p.Cys1408fs	coding	Pathogenic
15	48474265	GAAGCCATCACCTGTGTATCCTTC	G	A48474266C	FBN1	NM_000138.4(FBN1):c.4177_4199del:p.Glu1393fs	coding	Pathogenic
15	48474276	CT	C	T48474277G	FBN1	NM_000138.4(FBN1):c.4188del:p.Gly1397fs	coding	Pathogenic
15	48474287	TC	T	C48474289T	FBN1	NM_000138.5(FBN1):c.4177del:p.Glu1393fs	coding	Pathogenic
15	48474293	CACAG	C	A48474298C	FBN1	NM_000138.4(FBN1):c.4164_4167CTGT[1]:p.Leu1390fs	coding	Pathogenic
15	48474310	TC	T	C48474313A	FBN1	NM_000138.5(FBN1):c.4154del:p.Gly1385fs	coding	Pathogenic
15	48474319	A	AT	C48474322T	FBN1	NM_000138.4(FBN1):c.4145dup:p.Asn1382fs	coding	Pathogenic
15	48474323	TTGCAGTC	T	G48474328T	FBN1	NM_000138.4(FBN1):c.4135_4141del:p.Asp1379fs	coding	Pathogenic
15	48474585	CT	C	T48474586G	FBN1	NM_000138.5(FBN1):c.4029del:p.Gly1344fs	coding	Pathogenic
15	48474603	CA	C	A48474604G	FBN1	NM_000138.5(FBN1):c.4011del:p.Val1338fs	coding	Pathogenic
15	48474611	T	TTGCCAGAGTTGTG	C48474617G	FBN1	NM_000138.4(FBN1):c.4003_4004insCACAACTCTGGCA:p.Lys1335fs	coding	Pathogenic
15	48474641	T	TC	A48474643C	FBN1	NM_000138.4(FBN1):c.3973dup:p.Glu1325fs	coding	Pathogenic
15	48481656	T	TG	T48481658G	FBN1	NM_000138.4(FBN1):c.3962dup:p.Asp1322fs	coding	Pathogenic
15	48481666	G	GT	C48481672T	FBN1	NM_000138.4(FBN1):c.3952dup:p.Thr1318fs	coding	Pathogenic
15	48481671	TC	T	C48481673T	FBN1	NM_000138.4(FBN1):c.3947del:p.Gly1316fs	coding	Pathogenic
15	48481673	C	CT	G48481680T	FBN1	NM_000138.5(FBN1):c.3945dup:p.Gly1316fs	coding	Pathogenic
15	48481715	AGCCT	A	G48481716T	FBN1	NM_000138.5(FBN1):c.3900_3903del:p.Lys1300fs	coding	Pathogenic
15	48481723	G	GT	G48481725T	FBN1	NM_000138.4(FBN1):c.3895dup:p.Thr1299fs	coding	Pathogenic
15	48481725	GT	G	T48481729C	FBN1	NM_000138.4(FBN1):c.3893del:p.Asn1298fs	coding	Pathogenic
15	48481744	AG	A	G48481746C	FBN1	NM_000138.5(FBN1):c.3874del:p.Cys1291_Leu1292insTer	coding	Pathogenic
15	48481762	AG	A	G48481764T	FBN1	NM_000138.4(FBN1):c.3856del:p.Asp1285_Leu1286insTer	coding	Pathogenic
15	48481769	AC	A	C48481770T	FBN1	NM_000138.4(FBN1):c.3849del:p.Glu1283fs	coding	Pathogenic
15	48481772	CATTGACAT	C	A48481773C	FBN1	NM_000138.4(FBN1):c.3839_3846del:p.Asp1280fs	coding	Pathogenic
15	48483840	AG	A	G48483841A	FBN1	NM_000138.4(FBN1):c.3815del:p.Ser1272fs	coding	Pathogenic
15	48483856	TCATAACA	T	T48483859A	FBN1	NM_000138.4(FBN1):c.3793_3799del:p.Cys1265fs	coding	Pathogenic
15	48483882	AG	A	G48483885A	FBN1	NM_000138.4(FBN1):c.3773del:p.Pro1258fs	coding	Pathogenic
15	48483895	CACTG	C	T48483898C	FBN1	NM_000138.5(FBN1):c.3757_3760del:p.Gln1253fs	coding	Pathogenic
15	48485429	A	AT	A48485431T	FBN1	NM_000138.4(FBN1):c.3656dup:p.Tyr1219Ter	coding	Pathogenic
15	48485462	AC	A	C48485463A	FBN1	NM_000138.4(FBN1):c.3623del:p.Cys1208fs	coding	Pathogenic
15	48485477	T	TATGCTGCATTCATC	A48485493T	FBN1	NM_000138.4(FBN1):c.3595_3608dup:p.Ile1203fs	coding	Pathogenic
15	48487003	AATAACATAAC	A	C48487018A	FBN1	FBN1:c.3589+62_3589+71del	noncoding	Benign
15	48487034	GTAAAA	G	T48487060A	FBN1	NM_000138.4(FBN1):c.3589+11TTTTA[5]	noncoding	Benign/Likely_benign
15	48487104	T	TG	T48487107G	FBN1	NM_000138.4(FBN1):c.3559dup:p.His1187fs	coding	Pathogenic
15	48487106	GT	G	T48487107A	FBN1	NM_000138.5(FBN1):c.3557del:p.Tyr1186fs	coding	Pathogenic
15	48487342	G	GA	T48487344A	FBN1	NM_000138.4(FBN1):c.3432dup:p.Gln1145fs	coding	Pathogenic
15	48487347	C	CCAGG	G48487353A	FBN1	NM_000138.4(FBN1):c.3424_3427dup:p.Gly1143fs	coding	Pathogenic
15	48487375	CCT	C	C48487378G	FBN1	NM_000138.4(FBN1):c.3396_3397AG[1]:p.Glu1133fs	coding	Pathogenic
15	48487386	TG	T	G48487388C	FBN1	NM_000138.4(FBN1):c.3388del:p.His1130fs	coding	Pathogenic
15	48487396	CACCTC	ACTTT	C48487396A	FBN1	NM_000138.4(FBN1):c.3374_3379delinsAAAGT:p.Arg1125fs	coding	Pathogenic
15	48487398	CCTCGG	C	T48487400A	FBN1	NM_000138.4(FBN1):c.3372_3376del:p.Cys1124fs	coding	Pathogenic
15	48487399	C	CT	C48487401T	FBN1	NM_000138.5(FBN1):c.3375dup:p.Gly1126fs	coding	Pathogenic
15	48487425	CA	C	A48487426C	FBN1	NM_000138.5(FBN1):c.3349del:p.Cys1117fs	coding	Pathogenic
15	48487426	ACT	A	T48487428A	FBN1	NM_000138.4(FBN1):c.3347_3348del:p.Glu1116fs	coding	Pathogenic
15	48488099	GA	G	A48488100T	FBN1	NM_000138.4(FBN1):c.3337+13del	noncoding	Benign
15	48488111	AC	A	C48488114A	FBN1	NM_000138.4(FBN1):c.3337+1del	noncoding	Pathogenic
15	48488175	TC	T	C48488179A	FBN1	NM_000138.4(FBN1):c.3274del:p.Asp1092fs	coding	Pathogenic
15	48488180	AG	A	G48488184T	FBN1	NM_000138.4(FBN1):c.3269del:p.Pro1090fs	coding	Pathogenic
15	48488184	GT	G	T48488185G	FBN1	NM_000138.4(FBN1):c.3265del:p.Thr1089fs	coding	Pathogenic
15	48488191	CA	C	A48488192C	FBN1	NM_000138.4(FBN1):c.3258del:p.Cys1086fs	coding	Pathogenic
15	48488210	GAGGTC	G	T48488214A	FBN1	NM_000138.4(FBN1):c.3235_3239del:p.Asp1079fs	coding	Pathogenic
15	48488211	AG	A	G48488213T	FBN1	NM_000138.4(FBN1):c.3238del:p.Leu1080fs	coding	Pathogenic
15	48488238	AT	A	T48488239G	FBN1	NM_000138.5(FBN1):c.3211del:p.Ile1071fs	coding	Pathogenic
15	48488382	TC	T	C48488383T	FBN1	NM_000138.4(FBN1):c.3193del:p.Glu1065fs	coding	Pathogenic/Likely_pathogenic
15	48488383	CT	C	T48488385C	FBN1	NM_000138.4(FBN1):c.3192del:p.Glu1065fs	coding	Pathogenic
15	48488409	TC	T	C48488410A	FBN1	NM_000138.4(FBN1):c.3166del:p.Asp1056fs	coding	Pathogenic
15	48488463	A	AGGCT	G48488470C	FBN1	NM_000138.5(FBN1):c.3109_3112dup:p.Leu1038fs	coding	Pathogenic
15	48488477	CT	C	T48488479G	FBN1	NM_000138.4(FBN1):c.3098del:p.Lys1033fs	coding	Pathogenic
15	48489678	GGACCAAACAGTTAAAAACAAAAAGTTCATACTTTTCTAAACAAAGATAATTATATAATTCAGAAAGCAAAAAGTCCATGCTGGGATGATCAAGTAGAGTGCTGAGATCATGAAAATGCATCCTATTTGTCTAAAAAGGGAGGCAATTGGCCATGGAAAACGTAACATTGTACCTTTGAAGAAAGGCTTTCCATT	G	G48489679T	FBN1	NM_000138.4(FBN1):c.3061_3082+172del	noncoding	Pathogenic
15	48489842	AC	A	C48489843A	FBN1	NM_000138.4(FBN1):c.3082+8del	noncoding	Benign/Likely_benign
15	48489851	CT	C	T48489854G	FBN1	NM_000138.4(FBN1):c.3081del:p.Asp1028fs	coding	Pathogenic
15	48489859	A	AT	A48489860T	FBN1	NM_000138.4(FBN1):c.3073_3074insA:p.Phe1025fs	coding	Pathogenic
15	48489946	C	CA	C48489948A	FBN1	NM_000138.5(FBN1):c.2986dup:p.Cys996fs	coding	Pathogenic
15	48489961	TCAGTACCC	T	T48489965G	FBN1	NM_000138.4(FBN1):c.2964_2971del:p.Trp988_Glu991delinsTer	coding	Pathogenic
15	48490012	CGGCCAGCAATAGGCAGGGT	C	G48490014C	FBN1	NM_000138.4(FBN1):c.2902_2920del:p.Thr968fs	coding	Pathogenic
15	48490026	CA	C	A48490027G	FBN1	NM_000138.4(FBN1):c.2906del:p.Leu969fs	coding	Pathogenic
15	48490032	G	GCA	T48490036A	FBN1	NM_000138.4(FBN1):c.2899_2900dup:p.Thr968fs	coding	Pathogenic
15	48490039	TCGTCCTC	T	C48490040G	FBN1	NM_000138.4(FBN1):c.2887_2893del:p.Glu963fs	coding	Pathogenic
15	48490056	GA	G	A48490058G	FBN1	NM_000138.5(FBN1):c.2876del:p.Phe959fs	coding	Pathogenic
15	48490074	GA	G	A48490075T	FBN1	NM_000138.4(FBN1):c.2858del:p.Ile953fs	coding	Pathogenic
15	48490075	A	AT	A48490077T	FBN1	NM_000138.4(FBN1):c.2857dup:p.Ile953fs	coding	Pathogenic
15	48490216	C	CA	C48490225A	FBN1	NM_000138.4(FBN1):c.2855-146dup	noncoding	Benign
15	48492498	AC	A	C48492499T	FBN1	NM_000138.4(FBN1):c.2816del:p.Ser939fs	coding	Pathogenic
15	48492500	TG	T	G48492503A	FBN1	NM_000138.4(FBN1):c.2814del:p.Ser939fs	coding	Pathogenic
15	48492521	AC	A	C48492526T	FBN1	NM_000138.4(FBN1):c.2793del:p.Ser932fs	coding	Pathogenic
15	48492525	C	CCTAG	T48492530C	FBN1	NM_000138.4(FBN1):c.2786_2789dup:p.Arg930delinsSerTer	coding	Pathogenic
15	48492546	A	AT	A48492552T	FBN1	NM_000138.5(FBN1):c.2768dup:p.Asn923fs	coding	Pathogenic
15	48492569	CT	C	T48492571C	FBN1	NM_000138.5(FBN1):c.2745del:p.Val916fs	coding	Pathogenic
15	48492594	GA	G	A48492603G	FBN1	NM_000138.4(FBN1):c.2729-9del	noncoding	Benign/Likely_benign
15	48494206	TC	T	C48494207A	FBN1	NM_000138.4(FBN1):c.2725del:p.Glu909fs	coding	Pathogenic
15	48494215	GTTCCT	G	C48494218A	FBN1	NM_000138.4(FBN1):c.2712_2716del:p.Lys904fs	coding	Pathogenic
15	48494219	CT	C	T48494222A	FBN1	NM_000138.4(FBN1):c.2712del:p.Gly905fs	coding	Pathogenic
15	48494230	GA	G	A48494231G	FBN1	NM_000138.4(FBN1):c.2701del:p.Ser901fs	coding	Pathogenic
15	48494240	TACCACATATG	GGTAAA	T48494240G	FBN1	NM_000138.4(FBN1):c.2682_2692delinsTTTACC:p.Ile895fs	coding	Pathogenic
15	48495132	ATAGGGTGCACG	A	T48495133G	FBN1	NM_000138.4(FBN1):c.2657_2667del:p.Pro886fs	coding	Pathogenic
15	48495134	AG	A	G48495137T	FBN1	NM_000138.4(FBN1):c.2665del:p.Leu889fs	coding	Pathogenic
15	48495198	C	CA	T48495200A	FBN1	NM_000138.4(FBN1):c.2601dup:p.Gly868fs	coding	Pathogenic
15	48495198	C	CATTG	G48495205T	FBN1	NM_000138.4(FBN1):c.2598_2601dup:p.Gly868fs	coding	Pathogenic
15	48495213	C	CA	C48495215A	FBN1	NM_000138.4(FBN1):c.2586dup:p.Glu863Ter	coding	Pathogenic
15	48495229	GAC	G	C48495231G	FBN1	NM_000138.4(FBN1):c.2569_2570del:p.Val857fs	coding	Pathogenic
15	48495244	A	AGT	C48495248T	FBN1	NM_000138.4(FBN1):c.2554_2555dup:p.Cys853fs	coding	Pathogenic
15	48495480	GT	G	T48495485G	FBN1	NM_000138.5(FBN1):c.2527del:p.Thr843fs	coding	Pathogenic
15	48495501	CT	C	T48495504C	FBN1	NM_000138.4(FBN1):c.2506del:p.Ser836fs	coding	Pathogenic
15	48495534	GGGC	TTTATT	G48495534T	FBN1	NM_000138.4(FBN1):c.2471_2474delinsAATAAA:p.Ser824_Pro825delinsLysTer	coding	Pathogenic
15	48496105	CAT	C	A48496106G	FBN1	NM_000138.4(FBN1):c.2412_2413del:p.Thr804_Cys805insTer	coding	Pathogenic
15	48496108	G	GT	A48496114T	FBN1	NM_000138.5(FBN1):c.2410dup:p.Thr804fs	coding	Pathogenic
15	48496134	TC	T	C48496137T	FBN1	NM_000138.4(FBN1):c.2384del:p.Gly795fs	coding	Pathogenic
15	48496139	T	TG	C48496144G	FBN1	NM_000138.5(FBN1):c.2379dup:p.Lys794fs	coding	Pathogenic
15	48496178	AT	A	T48496180G	FBN1	NM_000138.4(FBN1):c.2340del:p.Gln780fs	coding	Pathogenic
15	48496203	GTTCAGTACACA	G	G48496208T	FBN1	NM_000138.4(FBN1):c.2305_2315del:p.Cys769fs	coding	Pathogenic
15	48497289	TC	T	C48497291A	FBN1	NM_000138.4(FBN1):c.2269del:p.Asp757fs	coding	Pathogenic
15	48497295	TCA	T	C48497296T	FBN1	NM_000138.4(FBN1):c.2262_2263del:p.Tyr754_Glu755delinsTer	coding	Pathogenic
15	48497304	GA	G	A48497306T	FBN1	NM_000138.4(FBN1):c.2254del:p.Ser752fs	coding	Pathogenic
15	48497315	AC	A	C48497316A	FBN1	NM_000138.4(FBN1):c.2243del:p.Cys748fs	coding	Pathogenic
15	48497331	CG	C	G48497332A	FBN1	NM_000138.4(FBN1):c.2227del:p.Arg743fs	coding	Pathogenic
15	48497345	G	GA	T48497347A	FBN1	NM_000138.4(FBN1):c.2213dup:p.Cys739fs	coding	Pathogenic
15	48497378	A	AC	A48497380C	FBN1	NM_000138.4(FBN1):c.2180dup:p.Cys727fs	coding	Pathogenic
15	48498990	CCTGCTGACGTCATTCCTGG	C	T48498992C	FBN1	NM_000138.4(FBN1):c.2143_2161del:p.Pro715fs	coding	Pathogenic
15	48499002	A	ATC	T48499004C	FBN1	NM_000138.5(FBN1):c.2149_2150insGA:p.Met717fs	coding	Pathogenic
15	48499021	A	AG	A48499023G	FBN1	NM_000138.5(FBN1):c.2130dup:p.Cys711fs	coding	Pathogenic
15	48503800	AG	A	G48503802A	FBN1	NM_000138.5(FBN1):c.2099del:p.Pro700fs	coding	Pathogenic
15	48503805	AC	A	C48503806G	FBN1	NM_000138.4(FBN1):c.2094del:p.Cys699fs	coding	Pathogenic
15	48503812	GC	G	C48503813A	FBN1	NM_000138.5(FBN1):c.2087del:p.Cys696fs	coding	Pathogenic
15	48503845	G	GCAACA	G48503851C	FBN1	NM_000138.4(FBN1):c.2050_2054dup:p.Ala686fs	coding	Pathogenic
15	48503871	C	CT	A48503872T	FBN1	NM_000138.4(FBN1):c.2028_2029insA:p.Ala677fs	coding	Pathogenic
15	48503873	CCAAA	C	C48503878G	FBN1	NM_000138.4(FBN1):c.2019_2022TTTG[1]:p.Phe675fs	coding	Pathogenic
15	48503892	A	ACTGGC	C48503900G	FBN1	NM_000138.4(FBN1):c.2003_2007dup:p.Cys670fs	coding	Pathogenic
15	48503897	C	ATACA	C48503897A	FBN1	NM_000138.4(FBN1):c.2003delinsTGTAT:p.Gly668fs	coding	Pathogenic
15	48503918	C	CA	T48503920A	FBN1	NM_000138.5(FBN1):c.1981dup:p.Cys661fs	coding	Pathogenic
15	48505026	AAC	A	A48505035G	FBN1	NM_000138.4(FBN1):c.1949_1950GT[4]:p.Cys652_Val653insTer	coding	Pathogenic
15	48505036	CG	C	G48505038C	FBN1	NM_000138.4(FBN1):c.1948del:p.Arg650fs	coding	Pathogenic
15	48505096	TT	G	T48505096G	FBN1	NM_000138.4(FBN1):c.1888_1889delinsC:p.Asn630fs	coding	Pathogenic
15	48505103	AAC	A	A48505104G	FBN1	NM_000138.4(FBN1):c.1880_1881del:p.Arg627fs	coding	Pathogenic
15	48505109	CA	TG	C48505109T	FBN1	NM_000138.5(FBN1):c.1875_1876inv:p.Gly626Arg	coding	Pathogenic
15	48505117	CA	AG	C48505117A	FBN1	NM_000138.5(FBN1):c.1867_1868delinsCT:p.Cys623Leu	coding	Pathogenic
15	48505132	T	TC	A48505134C	FBN1	NM_000138.4(FBN1):c.1852dup:p.Glu618fs	coding	Pathogenic
15	48505145	TG	ACCTTC	T48505145A	FBN1	NM_000138.4(FBN1):c.1839_1840delinsGAAGGT:p.Asp613fs	coding	Pathogenic
15	48508636	TA	T	A48508640C	FBN1	NM_000138.5(FBN1):c.1782del:p.Phe594fs	coding	Pathogenic
15	48510078	G	GC	G48510082C	FBN1	NM_000138.4(FBN1):c.1679dup:p.Phe561fs	coding	Pathogenic
15	48510098	GA	G	A48510102C	FBN1	NM_000138.4(FBN1):c.1659del:p.His554fs	coding	Pathogenic
15	48510109	TCTG	AC	T48510109A	FBN1	NM_000138.4(FBN1):c.1646_1649delinsGT:p.Thr549fs	coding	Pathogenic
15	48510123	GCGTCCATTATT	G	C48510124G	FBN1	NM_000138.4(FBN1):c.1624_1634del:p.Asn542fs	coding	Pathogenic
15	48513561	TC	T	C48513563G	FBN1	NM_000138.4(FBN1):c.1575del:p.Thr526fs	coding	Pathogenic
15	48513564	GC	G	C48513565G	FBN1	NM_000138.4(FBN1):c.1572del:p.Arg525fs	coding	Pathogenic
15	48513565	CG	C	G48513566T	FBN1	NM_000138.4(FBN1):c.1571del:p.Thr524fs	coding	Pathogenic
15	48513565	CGT	C	T48513567A	FBN1	NM_000138.5(FBN1):c.1570_1571del:p.Thr524fs	coding	Pathogenic
15	48513566	G	GT	G48513568T	FBN1	NM_000138.4(FBN1):c.1570dup:p.Thr524fs	coding	Pathogenic/Likely_pathogenic
15	48513599	C	CA	G48513601A	FBN1	NM_000138.5(FBN1):c.1537dup:p.Cys513fs	coding	Pathogenic
15	48515432	CA	C	A48515433C	FBN1	NM_000138.4(FBN1):c.1422del:p.Cys474fs	coding	Pathogenic
15	48515444	TC	T	C48515447A	FBN1	NM_000138.4(FBN1):c.1410del:p.Ser471fs	coding	Pathogenic
15	48515454	T	TG	A48515457G	FBN1	NM_000138.5(FBN1):c.1400dup:p.Thr468fs	coding	Pathogenic
15	48515483	AGCGGACCAACT	A	C48515485G	FBN1	NM_000138.4(FBN1):c.1361_1371del:p.Gln454fs	coding	Pathogenic
15	48515519	G	GC	A48515521C	FBN1	NM_000138.5(FBN1):c.1335dup:p.Pro446fs	coding	Pathogenic
15	48516209	T	TATTC	C48516214A	FBN1	NM_000138.4(FBN1):c.1297_1300dup:p.Tyr434Ter	coding	Pathogenic
15	48516222	G	GT	C48516224T	FBN1	NM_000138.4(FBN1):c.1287dup:p.Pro430fs	coding	Pathogenic
15	48516271	G	GCT	A48516272C	FBN1	NM_000138.5(FBN1):c.1238_1239insAG:p.Pro414fs	coding	Pathogenic
15	48516298	TG	T	G48516303A	FBN1	NM_000138.4(FBN1):c.1211del:p.Pro404fs	coding	Pathogenic/Likely_pathogenic
15	48516298	T	TG	A48516304G	FBN1	NM_000138.4(FBN1):c.1211dup:p.Pro405fs	coding	Pathogenic
15	48516318	T	TC	A48516322C	FBN1	NM_000138.4(FBN1):c.1191dup:p.Arg398fs	coding	Pathogenic
15	48516329	A	ACC	A48516332C	FBN1	NM_000138.4(FBN1):c.1179_1180dup:p.Val394fs	coding	Pathogenic
15	48516342	AGCACAGCTTGTT	A	C48516344A	FBN1	NM_000138.4(FBN1):c.1156_1167del:p.Asn386_Cys389del	coding	Pathogenic/Likely_pathogenic
15	48520671	TG	T	G48520674A	FBN1	NM_000138.4(FBN1):c.1134del:p.Ile379fs	coding	Pathogenic
15	48520715	CG	C	G48520717C	FBN1	NM_000138.5(FBN1):c.1090del:p.Arg364fs	coding	Pathogenic
15	48520739	AT	A	T48520743G	FBN1	NM_000138.4(FBN1):c.1066del:p.Met356fs	coding	Pathogenic
15	48520777	CCCGTTTGT	C	C48520779A	FBN1	NM_000138.4(FBN1):c.1021_1028del:p.Thr341fs	coding	Pathogenic
15	48520795	G	GT	A48520797T	FBN1	NM_000138.4(FBN1):c.1010dup:p.Tyr337Ter	coding	Pathogenic
15	48526134	GCATCTGGTAC	G	T48526142A	FBN1	NM_000138.4(FBN1):c.974_983del:p.Gly325fs	coding	Pathogenic
15	48526139	TG	T	G48526141T	FBN1	NM_000138.4(FBN1):c.978del:p.Arg327fs	coding	Pathogenic
15	48526159	T	TA	C48526165A	FBN1	NM_000138.5(FBN1):c.958dup:p.Tyr320fs	coding	Pathogenic
15	48526198	GTGTT	G	T48526202A	FBN1	NM_000138.4(FBN1):c.916_919del:p.Asn306fs	coding	Pathogenic
15	48526200	GT	G	T48526203G	FBN1	NM_000138.4(FBN1):c.917del:p.Asn306fs	coding	Pathogenic
15	48526212	AC	A	C48526217T	FBN1	NM_000138.5(FBN1):c.905del:p.Gly302fs	coding	Pathogenic
15	48534098	CTTCA	C	C48534101A	FBN1	NM_000138.4(FBN1):c.840_843del:p.Asn280fs	coding	Pathogenic
15	48534100	T	TA	C48534101A	FBN1	NM_000138.4(FBN1):c.841_842insT:p.Glu281fs	coding	Pathogenic
15	48534110	TG	T	G48534111T	FBN1	NM_000138.5(FBN1):c.831del:p.His277fs	coding	Pathogenic
15	48534128	T	AAGTTTGTGTCCAGCAGGGCATTGTGTCCA	T48534128A	FBN1	NM_000138.5(FBN1):c.814delinsTGGACACAATGCCCTGCTGGACACAAACTT:p.Lys272fs	coding	Pathogenic
15	48534136	AAAGACCC	A	G48534139C	FBN1	NM_000138.4(FBN1):c.799_805del:p.Gly267fs	coding	Pathogenic
15	48534140	AC	A	C48534143A	FBN1	NM_000138.4(FBN1):c.801del:p.Ser268fs	coding	Pathogenic
15	48534140	ACCCAACAGTATTAATGCAATTTCCT	A	A48534144T	FBN1	NM_000138.5(FBN1):c.777_801del:p.Gly260fs	coding	Pathogenic
15	48534179	CG	C	G48534183A	FBN1	NM_000138.4(FBN1):c.762del:p.Leu256fs	coding	Pathogenic
15	48534179	CGGGGATGG	C	G48534180C	FBN1	NM_000138.5(FBN1):c.755_762del:p.Ala252fs	coding	Pathogenic
15	48534187	G	GC	T48534190C	FBN1	NM_000138.5(FBN1):c.754dup:p.Ala252fs	coding	Pathogenic
15	48534193	C	CGG	A48534194G	FBN1	NM_000138.5(FBN1):c.748_749insCC:p.Cys250fs	coding	Pathogenic
15	48534224	CAG	C	G48534230A	FBN1	NM_000138.4(FBN1):c.737-25CT[2]	noncoding	Benign
15	48537656	AGGGGTGAGGCT	A	G48537660C	FBN1	NM_000138.4(FBN1):c.680_690del:p.Gln227fs	coding	Pathogenic
15	48537682	TCA	T	C48537685G	FBN1	NM_000138.5(FBN1):c.663_664del:p.Cys221_Glu222delinsTer	coding	Pathogenic
15	48537685	CA	C	A48537686G	FBN1	NM_000138.5(FBN1):c.661del:p.Cys221fs	coding	Pathogenic
15	48537685	CAG	C	A48537686G	FBN1	NM_000138.4(FBN1):c.660_661del:p.Pro220_Cys221insTer	coding	Pathogenic
15	48537686	AG	A	G48537690T	FBN1	NM_000138.4(FBN1):c.660del:p.Cys221fs	coding	Pathogenic
15	48537710	CTG	C	T48537713G	FBN1	NM_000138.4(FBN1):c.633_634CA[1]:p.Thr212fs	coding	Pathogenic
15	48537764	ACATCTG	TT	A48537764T	FBN1	NM_000138.5(FBN1):c.577_583delinsAA:p.Gln193fs	coding	Pathogenic
15	48596294	T	TG	T48596299G	FBN1	NM_000138.5(FBN1):c.526dup:p.Gln176fs	coding	Pathogenic
15	48596329	AT	A	T48596332G	FBN1	NM_000138.5(FBN1):c.491del:p.Asn164fs	coding	Pathogenic
15	48596351	CCATT	C	C48596352G	FBN1	NM_000138.4(FBN1):c.466_469del:p.Asn156fs	coding	Pathogenic
15	48596355	TG	T	G48596356A	FBN1	NM_000138.5(FBN1):c.465del:p.Asn156fs	coding	Pathogenic
15	48596377	AG	A	G48596378C	FBN1	NM_000138.4(FBN1):c.443del:p.Pro148fs	coding	Pathogenic
15	48600139	GT	G	T48600141G	FBN1	NM_000138.4(FBN1):c.441del:p.Gln147fs	coding	Pathogenic/Likely_pathogenic
15	48600174	C	CA	T48600176A	FBN1	NM_000138.4(FBN1):c.406dup:p.Cys136fs	coding	Pathogenic
15	48600217	G	GAA	T48600220A	FBN1	NM_000138.5(FBN1):c.362_363dup:p.Arg122fs	coding	Pathogenic
15	48610737	A	AG	C48610739G	FBN1	NM_000138.4(FBN1):c.336dup:p.Ser113fs	coding	Pathogenic
15	48610768	GC	TT	G48610768T	FBN1	NM_000138.4(FBN1):c.305_306delinsAA:p.Cys102Ter	coding	Pathogenic
15	48610780	AT	A	T48610783G	FBN1	NM_000138.5(FBN1):c.293del:p.Asn98fs	coding	Pathogenic
15	48610814	TGC	AG	T48610814A	FBN1	NM_000138.4(FBN1):c.258_260delinsCT:p.His87fs	coding	Pathogenic
15	48613020	C	CT	G48613022T	FBN1	NM_000138.4(FBN1):c.236dup:p.Cys80fs	coding	Pathogenic
15	48613031	CA	C	A48613032G	FBN1	NM_000138.4(FBN1):c.225del:p.Gly76fs	coding	Pathogenic
15	48613080	AC	A	C48613081A	FBN1	NM_000138.4(FBN1):c.176del:p.Cys59fs	coding	Pathogenic
15	48644604	AC	A	C48644607T	FBN1	NM_000138.4(FBN1):c.164+1del	noncoding	Pathogenic
15	48644643	TG	T	G48644645C	FBN1	NM_000138.4(FBN1):c.126del:p.Lys43fs	coding	Pathogenic
15	48644645	GC	G	C48644648G	FBN1	NM_000138.4(FBN1):c.124del:p.Ala42fs	coding	Pathogenic
15	48644658	TG	T	G48644660T	FBN1	NM_000138.4(FBN1):c.111del:p.Arg38fs	coding	Pathogenic
15	48644720	AAAAGCACGGT	A	G48644724T	FBN1	NM_000138.4(FBN1):c.40_49del:p.Phe13_Thr14insTer	coding	Pathogenic
15	48738308	CAATT	C	A48738313T	CEP152	NM_001194998.2(CEP152):c.5070_5073del:p.Ile1691fs	coding	Pathogenic
15	48739002	AAC	A	C48739004T	CEP152	NM_001194998.2(CEP152):c.4378_4379del:p.Val1460fs	coding	Benign/Likely_benign
15	48756035	CA	C	A48756039G	CEP152	NM_001194998.2(CEP152):c.3212del:p.Leu1071fs	coding	Pathogenic
15	48756231	GT	G	T48756237G	CEP152	NM_001194998.2(CEP152):c.3016del:p.Thr1006fs	coding	Pathogenic
15	48756233	TT	A	T48756233A	CEP152	NM_001194998.2(CEP152):c.3014_3015delinsT:p.Lys1005fs	coding	Pathogenic
15	48760149	AG	A	G48760150A	CEP152	NM_001194998.2(CEP152):c.2679del:p.Ser894fs	coding	Pathogenic
15	48788818	TG	T	G48788819A	CEP152	NM_001194998.2(CEP152):c.1155del:p.Thr386fs	coding	Pathogenic
15	48793456	CAG	C	A48793459T	CEP152	NM_001194998.2(CEP152):c.693_694CT[1]:p.Ser232fs	coding	Pathogenic
15	50490441	ACTC	A	T50490446C	USP8	NM_005154.5(USP8):c.2152_2154TCC[1]:p.Ser719del	coding	Pathogenic
15	50529817	A	AT	A50529821T	USP50	NM_203494.5(USP50):c.915dup:p.Tyr306fs	coding	Benign
15	50609732	TA	T	A50609745T	TRPM7	NM_017672.6(TRPM7):c.2437-9del	noncoding	Benign
15	50997722	C	CTATGT	A50997723T	AP4E1	NM_007347.5(AP4E1):c.2743_2744insTATGT:p.His915fs	coding	Pathogenic
15	51094695	CCGGGCGGCG	C	G51094710T	TNFAIP8L3	NM_001311175.2(TNFAIP8L3):c.-118_-110CGCCGCCCG[1]	coding	Benign
15	51208549	A	AT	A51208550T	CYP19A1	NM_000103.4(CYP19A1):c.*2258_*2259insA	noncoding	Benign
15	51212358	TG	T	G51212362A	CYP19A1	NM_000103.4(CYP19A1):c.1224del:p.Lys409fs	coding	Pathogenic
15	51212524	T	TA	T51212527A	CYP19A1	NM_000103.4(CYP19A1):c.1058dup:p.Leu353fs	coding	Pathogenic
15	51212560	AC	A	C51212562T	CYP19A1	NM_031226.3(CYP19A1):c.1022del:p.Gly341Valfs	coding	Pathogenic
15	51215773	CT	C	T51215779C	CYP19A1	NM_000103.4(CYP19A1):c.787del:p.Arg263fs	coding	Pathogenic
15	51397534	GC	G	C51397539T	GLDN	NM_181789.4(GLDN):c.758del:p.Pro253fs	coding	Pathogenic
15	51400449	GTC	G	C51400451G	GLDN	NM_181789.4(GLDN):c.980_981del:p.Ser327fs	coding	Pathogenic
15	51463501	TA	T	A51463509T	DMXL2	NM_015263.4(DMXL2):c.7806-6del	noncoding	Benign
15	51480848	C	CTCATGTAA	C51480854T	DMXL2	NM_015263.4(DMXL2):c.6257_6258insTTACATGA:p.Glu2086fs	coding	Pathogenic
15	51481264	AACTTCCATTGCCATC	A	T51481268C	DMXL2	NM_015263.4(DMXL2):c.5827_5841del:p.Asp1943_Ser1947del	coding	Pathogenic
15	51576183	T	TAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	G51576204A	DMXL2	NM_001174116.2(DMXL2):c.88-3_88-2insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	noncoding	Benign
15	51576183	T	TAAAAAAAAAAAAAAA	G51576204A	DMXL2	NM_015263.4(DMXL2):c.88-22_88-8dup	noncoding	Benign
15	51576183	T	TAAA	G51576204A	DMXL2	NM_015263.4(DMXL2):c.88-22_88-20dup	noncoding	Benign
15	52153962	CTCTTA	C	A52153967T	GNB5	NM_016194.4(GNB5):c.348_352del:p.Asp116fs	coding	Pathogenic
15	52364535	AC	A	C52364536A	MYO5A	NM_000259.3(MYO5A):c.3309+18del	noncoding	Benign
15	52389446	AT	A	T52389458G	MYO5A	NM_000259.3(MYO5A):c.1543-84del	noncoding	Benign
15	53515106	C	CACACAA	A53515108C	WDR72	NM_182758.4(WDR72):c.*2592_*2593insTTGTGT	noncoding	Benign
15	53613680	CT	C	T53613681G	WDR72	NM_182758.4(WDR72):c.2857del:p.Ser953fs	coding	Pathogenic
15	53702234	CAT	C	A53702235G	WDR72	NM_182758.4(WDR72):c.1467_1468del:p.Val491fs	coding	Pathogenic
15	53716692	GA	G	A53716694G	WDR72	NM_182758.4(WDR72):c.261-8del	noncoding	Benign/Likely_benign
15	55205654	TGCTTG	T	G55205659A	RAB27A	NM_183235.3(RAB27A):c.514_518del:p.Gln172fs	coding	Pathogenic
15	55223931	ACT	A	C55223936G	RAB27A	NM_183235.3(RAB27A):c.419_420AG[2]:p.Arg141fs	coding	Pathogenic
15	55223978	TG	T	G55223981T	RAB27A	NM_183235.3(RAB27A):c.377del:p.Pro126fs	coding	Pathogenic
15	55228700	T	TA	G55228703A	RAB27A	NM_183235.3(RAB27A):c.251dup:p.Leu84fs	coding	Pathogenic
15	55234785	TC	T	C55234786T	RAB27A	NM_183235.3(RAB27A):c.149del:p.Arg50fs	coding	Pathogenic
15	55234880	CAG	C	A55234883T	RAB27A	NM_183235.3(RAB27A):c.51_52CT[1]:p.Ser18fs	coding	Pathogenic
15	55234915	TCA	T	C55234916T	RAB27A	NM_183235.3(RAB27A):c.18_19del:p.Tyr6_Asp7delinsTer	coding	Pathogenic
15	55435017	GC	G	C55435018A	DNAAF4	NM_130810.4(DNAAF4):c.934del:p.Ala312fs	coding	Pathogenic
15	55466973	CTTATA	C	A55466976T	DNAAF4	NM_130810.4(DNAAF4):c.589_593del:p.Tyr197fs	coding	Pathogenic
15	55466983	AT	A	T55466991C	DNAAF4	NM_130810.4(DNAAF4):c.583del:p.Lys194_Ile195insTer	coding	Pathogenic
15	55467043	A	AT	G55467053T	DNAAF4	NM_001033560.1(DNAAF4):c.523dup:p.Ile175Asnfs	coding	Pathogenic
15	55491173	CT	C	T55491177G	DNAAF4	NM_130810.4(DNAAF4):c.354del:p.Ala119fs	coding	Pathogenic
15	55497816	GGA	AG	G55497816A	DNAAF4	NM_130810.4(DNAAF4):c.165_167delinsCT:p.Pro56fs	coding	Pathogenic
15	55951594	TA	T	A55951611G	NEDD4	NM_006154.4(NEDD4):c.120-6del	noncoding	Benign
15	57232382	CAT	C	A57232383G	TCF12	NM_207037.2(TCF12):c.778_779del:p.Met260fs	coding	Pathogenic/Likely_pathogenic
15	57232389	C	CA	T57232392A	TCF12	NM_207037.2(TCF12):c.786dup:p.Ser263fs	coding	Pathogenic
15	57234069	TCA	T	C57234072G	TCF12	NM_207037.2(TCF12):c.998_999CA[1]:p.Gln334fs	coding	Pathogenic
15	57243506	CG	C	G57243507T	TCF12	NM_207037.2(TCF12):c.1071del:p.Ser358fs	coding	Pathogenic
15	57253366	T	TA	T57253368A	TCF12	NM_207037.2(TCF12):c.1366dup:p.Ile456fs	coding	Pathogenic
15	57262113	A	ACT	G57262118C	TCF12	NM_207037.2(TCF12):c.1488_1489CT[3]:p.Val498fs	coding	Pathogenic
15	57262116	C	CT	G57262118T	TCF12	NM_207037.2(TCF12):c.1491dup:p.Val498fs	coding	Pathogenic
15	57263167	CAAAG	C	G57263171A	TCF12	NM_207037.2(TCF12):c.1642_1645del:p.Glu548fs	coding	Pathogenic
15	57263171	GA	G	A57263175G	TCF12	NM_207037.2(TCF12):c.1646del:p.Lys549fs	coding	Pathogenic
15	57273187	GAA	G	A57273191C	TCF12	NM_207037.2(TCF12):c.1907_1908del:p.Lys636fs	coding	Pathogenic
15	60503590	GC	G	C60503591G	RORA	NM_134261.3(RORA):c.1019del:p.Arg340fs	coding	Pathogenic/Likely_pathogenic
15	60505573	C	CTCTCAAGTAT	G60505585C	RORA	NM_134261.3(RORA):c.867_876dup:p.Glu293fs	coding	Pathogenic
15	60511240	GAC	G	C60511244G	RORA	NM_134261.3(RORA):c.802_803GT[1]:p.Ser269fs	coding	Pathogenic
15	61947291	TG	T	G61947294A	VPS13C	NM_020821.3(VPS13C):c.4777del:p.Gln1593fs	coding	Pathogenic
15	61947311	T	TA	T61947318A	VPS13C	NM_020821.3(VPS13C):c.4760-8dup	noncoding	Benign
15	62013057	T	TTCTG	C62013058T	VPS13C	NM_020821.3(VPS13C):c.806_807insCAGA:p.Arg269fs	coding	Pathogenic
15	62013058	C	CTCTG	G62013063T	VPS13C	NM_020821.3(VPS13C):c.802_805dup:p.Arg269fs	coding	Pathogenic
15	63061799	AG	A	G63061801A	TPM1	NM_001018005.2(TPM1):c.639+13del	noncoding	Benign/Likely_benign
15	63338833	G	GAGGT	T63338834A	CA12	NM_001218.5(CA12):c.859_860insACCT:p.Thr287fs	coding	Pathogenic
15	63774942	AT	A	T63774943G	HERC1	NM_003922.4(HERC1):c.681del:p.Gly231fs	coding	Pathogenic
15	64155820	T	TA	C64155834A	PPIB	NM_000942.5(PPIB):c.*202dup	noncoding	Benign
15	64156107	GCTGT	G	G64156114T	PPIB	NM_000942.5(PPIB):c.559_562ACAG[1]:p.Asp188fs	coding	Pathogenic
15	64156114	GTCTT	G	T64156115G	PPIB	NM_000942.5(PPIB):c.556_559del:p.Lys186fs	coding	Pathogenic
15	64162866	TG	T	G64162869C	PPIB	NM_000942.4(PPIB):c.120del:p.Val42fs	coding	Pathogenic
15	64397661	CAA	C	A64397662G	TRIP4	NM_016213.5(TRIP4):c.462_463del:p.Glu156fs	coding	Pathogenic
15	64969322	G	GT	A64969324T	SPG21	NM_016630.7(SPG21):c.601dup:p.Thr201fs	coding	Pathogenic
15	64980969	T	TC	G64980971C	SPG21	NM_016630.7(SPG21):c.119dup:p.Ser41fs	coding	Pathogenic
15	65003130	GAA	G	A65003132T	MTFMT	NM_139242.4(MTFMT):c.1100_1101del:p.Phe367fs	coding	Pathogenic
15	65020276	CA	C	A65020290G	MTFMT	NM_139242.4(MTFMT):c.646-5del	noncoding	Benign
15	65020276	C	CAA	G65020291A	MTFMT	NM_139242.4(MTFMT):c.646-18_646-17dup	noncoding	Benign
15	65020276	C	CA	G65020291A	MTFMT	NM_139242.4(MTFMT):c.646-18dup	noncoding	Benign
15	65027027	CTTCT	C	C65027030G	MTFMT	NM_139242.4(MTFMT):c.219_222del:p.Glu74fs	coding	Pathogenic
15	65624833	AAT	A	A65624834G	SLC24A1	NM_004727.3(SLC24A1):c.754_755del:p.Met252fs	coding	Pathogenic
15	65624902	CGT	C	G65624903C	SLC24A1	NM_004727.3(SLC24A1):c.823_824del:p.Val275fs	coding	Pathogenic
15	65624943	AAAGT	A	G65624946C	SLC24A1	NM_004727.3(SLC24A1):c.866_869del:p.Ser289fs	coding	Pathogenic
15	65625768	CCTT	C	T65625771A	SLC24A1	NM_004727.3(SLC24A1):c.1691_1693del:p.Phe564del	coding	Pathogenic
15	65651692	TC	T	C65651693A	SLC24A1	NM_004727.3(SLC24A1):c.2817del:p.Phe939fs	coding	Pathogenic
15	65654068	GTATC	G	A65654070G	SLC24A1	NM_004727.3(SLC24A1):c.3291_3294del:p.Val1099fs	coding	Pathogenic
15	66387311	T	TC	G66387318C	MAP2K1	NM_002755.4(MAP2K1):c.-31dup	noncoding	Benign
15	66436837	GC	TT	G66436837T	MAP2K1	NM_002755.3(MAP2K1):c.383_384delinsTT:p.Gly128Val	coding	Pathogenic
15	66443587	C	CAG	G66443588A	MAP2K1	NM_002755.3(MAP2K1):c.516+230_516+231insAG	noncoding	Benign
15	66484977	G	GTC	C66484984T	MAP2K1	NM_002755.3(MAP2K1):c.694-12TC[4]	noncoding	Benign
15	66488960	CAAGT	C	A66488961G	MAP2K1	NM_002755.3(MAP2K1):c.961-254_961-251del	noncoding	Benign
15	66489770	CTATT	C	T66489775C	MAP2K1	NM_002755.4(MAP2K1):c.1068+12_1068+15del	noncoding	Benign
15	66703362	A	AG	A66703365G	SMAD6	NM_005585.5(SMAD6):c.106dup:p.Asp36fs	coding	Pathogenic
15	66703846	GT	G	T66703847C	SMAD6	NM_005585.5(SMAD6):c.589del:p.Ser197fs	coding	Pathogenic
15	66781209	T	TTCGGCA	C66781218G	SMAD6	NM_005585.5(SMAD6):c.1168_1173dup:p.Gly390_Ile391dup	coding	Pathogenic
15	67066174	TC	T	C67066175A	SMAD3	NM_005902.4(SMAD3):c.21del:p.Phe7fs	coding	Pathogenic
15	67066206	TG	T	G67066208A	SMAD3	NM_005902.4(SMAD3):c.54del:p.Gly17_Trp18insTer	coding	Pathogenic/Likely_pathogenic
15	67066288	CG	C	G67066292C	SMAD3	NM_005902.4(SMAD3):c.138del:p.Gln47fs	coding	Pathogenic
15	67164930	A	AG	C67164935G	SMAD3	NM_005902.4(SMAD3):c.246dup:p.Leu83fs	coding	Pathogenic
15	67164933	G	GGC	T67164936G	SMAD3	NM_005902.4(SMAD3):c.246_247dup:p.Leu83fs	coding	Pathogenic
15	67164950	T	TA	C67164952A	SMAD3	NM_005902.4(SMAD3):c.263dup:p.Tyr88Ter	coding	Pathogenic
15	67164953	T	TGCC	T67164960G	SMAD3	NM_005902.4(SMAD3):c.266_268GCC[3]:p.Arg90dup	coding	Pathogenic
15	67164998	CG	C	G67165001C	SMAD3	NM_005902.4(SMAD3):c.313del:p.Ala105fs	coding	Pathogenic
15	67165277	GCCACA	G	C67165279A	SMAD3	NM_005902.4(SMAD3):c.427_431del:p.His143fs	coding	Pathogenic
15	67165301	TC	T	C67165307A	SMAD3	NM_005902.4(SMAD3):c.455del:p.Pro152fs	coding	Pathogenic
15	67165331	TC	T	C67165335G	SMAD3	NM_005902.4(SMAD3):c.483del:p.Glu162fs	coding	Pathogenic
15	67165365	GC	G	C67165369A	SMAD3	NM_005902.4(SMAD3):c.517del:p.Gln173fs	coding	Pathogenic
15	67166781	AC	A	C67166785A	SMAD3	NM_005902.4(SMAD3):c.539del:p.Pro180fs	coding	Pathogenic
15	67166786	A	AC	T67166792C	SMAD3	NM_005902.4(SMAD3):c.545dup:p.Gly183fs	coding	Pathogenic
15	67166791	CT	C	T67166792G	SMAD3	NM_005902.4(SMAD3):c.546del:p.Gly183fs	coding	Pathogenic
15	67170597	TA	T	A67170599C	SMAD3	NM_005902.4(SMAD3):c.653del:p.Asn218fs	coding	Pathogenic
15	67181248	GC	G	C67181250A	SMAD3	NM_005902.4(SMAD3):c.668del:p.Pro223fs	coding	Pathogenic
15	67181314	CG	C	G67181318A	SMAD3	NM_005902.4(SMAD3):c.736del:p.Glu246fs	coding	Pathogenic
15	67181322	CAT	C	A67181323T	SMAD3	NM_005902.4(SMAD3):c.741_742del:p.Phe248fs	coding	Pathogenic
15	67181350	TG	T	G67181351T	SMAD3	NM_005902.4(SMAD3):c.769del:p.Val257fs	coding	Pathogenic
15	67181432	GAGCTGACACGGAGA	G	A67181433C	SMAD3	NM_005902.4(SMAD3):c.851_864del:p.Glu284fs	coding	Pathogenic
15	67184727	GA	G	A67184729G	SMAD3	NM_005902.4(SMAD3):c.874del:p.Arg292fs	coding	Pathogenic
15	67184755	A	AGG	A67184760G	SMAD3	NM_005902.4(SMAD3):c.903_904dup:p.Glu302fs	coding	Pathogenic
15	67184755	AG	A	G67184759A	SMAD3	NM_005902.4(SMAD3):c.904del:p.Glu302fs	coding	Pathogenic
15	67184815	TAACCAGCGCTAT	GACACC	T67184815G	SMAD3	NM_005902.4(SMAD3):c.960_972delinsGACACC:p.Cys320fs	coding	Pathogenic
15	67184843	A	AC	G67184846C	SMAD3	NM_005902.4(SMAD3):c.990dup:p.Val331fs	coding	Pathogenic
15	67190421	CTG	C	T67190424A	SMAD3	NM_005902.4(SMAD3):c.1164_1165TG[1]:p.Val389fs	coding	Pathogenic
15	67190432	ACC	A	C67190436T	SMAD3	NM_005902.4(SMAD3):c.1178_1179del:p.Pro393fs	coding	Pathogenic
15	67231875	TC	T	C67231877T	AAGAB	NM_001271885.1(AAGAB):c.146del:p.Gly49fs	coding	Pathogenic
15	67236419	ACT	A	C67236422A	AAGAB	NM_024666.5(AAGAB):c.346_347AG[1]:p.Arg116fs	coding	Pathogenic
15	67236689	CAAGA	C	G67236692T	AAGAB	NM_001271885.1(AAGAB):c.-127_-124del	coding	Pathogenic
15	68208185	AG	A	G68208188A	CLN6	NM_017882.3(CLN6):c.890del:p.Pro297fs	coding	Pathogenic/Likely_pathogenic
15	68208238	GC	G	C68208240A	CLN6	NM_017882.3(CLN6):c.837del:p.Trp279fs	coding	Pathogenic
15	68209749	A	AG	A68209754G	CLN6	NM_017882.3(CLN6):c.552dup:p.Phe185fs	coding	Pathogenic
15	68211288	CATA	C	A68211292G	CLN6	NM_017882.3(CLN6):c.511_513TAT[1]:p.Tyr172del	coding	Pathogenic
15	68211697	TTGA	T	A68211703G	CLN6	NM_017882.2(CLN6):c.461_463del:p.Ile154del	coding	Pathogenic/Likely_pathogenic
15	68211764	CAG	C	A68211767T	CLN6	NM_017882.3(CLN6):c.393_394CT[1]:p.Ser132fs	coding	Pathogenic
15	68211844	C	CG	A68211851G	CLN6	NM_017882.2(CLN6):c.316dupC:p.Arg106Profs	coding	Pathogenic
15	68214270	TG	T	G68214275C	CLN6	NM_017882.3(CLN6):c.297+19del	noncoding	Benign
15	68214315	A	ACGTT	G68214320C	CLN6	NM_017882.3(CLN6):c.268_271dup:p.Val91fs	coding	Pathogenic
15	68229484	A	AC	G68229489C	CLN6	NM_017882.3(CLN6):c.83+14dup	noncoding	Benign
15	68229518	AG	A	G68229520C	CLN6	NM_017882.3(CLN6):c.66del:p.Ser23fs	coding	Pathogenic
15	68229577	GC	G	C68229579T	CLN6	NM_017882.3(CLN6):c.7del:p.Ala3fs	coding	Pathogenic
15	68229752	GGCGGAGCGGA	G	C68229769G	CLN6	NM_017882.2(CLN6):c.-178_-169delTCCGCTCCGC	noncoding	Benign
15	69423148	TC	T	C69423149T	KIF23	NM_138555.4(KIF23):c.564-10del	noncoding	Benign
15	71810772	GC	G	C71810773T	NR2E3	NM_014249.4(NR2E3):c.30del:p.Ser11fs	coding	Pathogenic
15	71811507	GC	AGTGTGCCTCCAGTGCCTCGCTCCA	G71811507A	NR2E3	NM_014249.4(NR2E3):c.143_144delinsAGTGTGCCTCCAGTGCCTCGCTCCA:p.Arg48fs	coding	Pathogenic
15	71811552	CCTGCAACGG	C	A71811558G	NR2E3	NM_014249.4(NR2E3):c.194_202del:p.Asn65_Cys67del	coding	Pathogenic/Likely_pathogenic
15	71811558	ACGGCTGCAG	A	G71811564T	NR2E3	NM_014249.4(NR2E3):c.200_208del:p.Cys67_Gly69del	coding	Pathogenic
15	71812049	T	TC	G71812055C	NR2E3	NM_014249.4(NR2E3):c.449dup:p.Ala151fs	coding	Pathogenic
15	71812085	CA	C	A71812086C	NR2E3	NM_014249.4(NR2E3):c.481del:p.Thr161fs	coding	Pathogenic
15	71812485	TTC	T	T71812488C	NR2E3	NM_014249.4(NR2E3):c.722_723TC[1]:p.Ser242fs	coding	Pathogenic
15	71813445	GTC	G	C71813449G	NR2E3	NM_014249.4(NR2E3):c.806_807CT[1]:p.Leu270fs	coding	Pathogenic
15	71813466	TCCTCTGCTGGCACCGCC	T	C71813468G	NR2E3	NM_014249.4(NR2E3):c.827_843del:p.Pro276fs	coding	Pathogenic
15	71813505	TGCCCAGGGCCG	T	C71813508T	NR2E3	NM_014249.4(NR2E3):c.867_877del:p.Gln290fs	coding	Pathogenic
15	71814050	TTGCAG	T	T71814051G	NR2E3	NM_014249.4(NR2E3):c.1034_1038del:p.Ala344_Leu345insTer	coding	Pathogenic
15	71817618	CTT	C	T71817622C	NR2E3	NM_014249.4(NR2E3):c.1171_1172del:p.Phe391fs	coding	Pathogenic
15	72345461	CG	C	G72345463A	HEXA	NM_000520.6(HEXA):c.1510del:p.Arg504fs	coding	Pathogenic
15	72346235	CAG	C	A72346238C	HEXA	NM_000520.6(HEXA):c.1419_1420del:p.Trp474fs	coding	Pathogenic
15	72346578	A	AGGAT	A72346583G	HEXA	NM_000520.6(HEXA):c.1275_1278dup:p.Tyr427fs	coding	Pathogenic
15	72346579	G	GGATA	T72346584G	HEXA	NM_000520.6(HEXA):c.1274_1277dup:p.Tyr427fs	coding	Pathogenic
15	72347708	TC	T	C72347710T	HEXA	NM_000520.6(HEXA):c.1123del:p.Glu375fs	coding	Pathogenic/Likely_pathogenic
15	72349100	TCTC	T	T72349105A	HEXA	NM_000520.6(HEXA):c.959_961GAG[1]:p.Gly321del	coding	Pathogenic
15	72349134	CAG	C	A72349137C	HEXA	NM_000520.6(HEXA):c.927_928CT[1]:p.Ser310fs	coding	Pathogenic
15	72349147	TAAG	T	G72349153T	HEXA	NM_000520.6(HEXA):c.912_914CTT[1]:p.Phe305del	coding	Pathogenic/Likely_pathogenic
15	72349159	GCTCATGAA	G	G72349165A	HEXA	NM_000520.6(HEXA):c.898_905del:p.Phe300fs	coding	Pathogenic
15	72350604	T	TA	T72350605A	HEXA	NM_000520.6(HEXA):c.718_719insT:p.Lys240fs	coding	Pathogenic
15	72351170	GGGAA	G	A72351178T	HEXA	NM_000520.6(HEXA):c.631_634del:p.Phe211fs	coding	Pathogenic
15	72353091	G	GT	G72353093T	HEXA	NM_000520.6(HEXA):c.546dup:p.Leu183fs	coding	Pathogenic
15	72353141	CG	C	G72353145A	HEXA	NM_000520.6(HEXA):c.496del:p.Arg166fs	coding	Pathogenic
15	72353172	TA	T	A72353175G	HEXA	NM_000520.6(HEXA):c.465del:p.Phe155fs	coding	Pathogenic/Likely_pathogenic
15	72353723	TAA	T	A72353726G	HEXA	NM_000520.6(HEXA):c.425_426del:p.Thr141_Phe142insTer	coding	Pathogenic
15	72353723	TA	T	A72353727G	HEXA	NM_000520.6(HEXA):c.426del:p.Phe142fs	coding	Pathogenic
15	72353727	AG	A	G72353728T	HEXA	NM_000520.6(HEXA):c.422del:p.Thr141fs	coding	Pathogenic
15	72355573	CA	C	A72355574G	HEXA	NM_000520.6(HEXA):c.397del:p.Trp133fs	coding	Pathogenic
15	72356557	T	TTACA	C72356563A	HEXA	NM_000520.6(HEXA):c.310_313dup:p.Asn105delinsMetTer	coding	Pathogenic
15	72356594	T	TC	T72356596C	HEXA	NM_000520.6(HEXA):c.276dup:p.Asn93fs	coding	Pathogenic
15	72474873	T	TGGC	T72474897C	ARIH1	NM_005744.5(ARIH1):c.237_239CGG[8]:p.Gly90dup	coding	Benign
15	72695178	G	GA	C72695181A	BBS4	NM_033028.5(BBS4):c.28dup:p.Thr10fs	coding	Benign
15	72716782	CT	C	T72716786G	BBS4	NM_033028.5(BBS4):c.341del:p.Leu114fs	coding	Pathogenic
15	72729629	AG	A	G72729630A	BBS4	NM_033028.5(BBS4):c.657del:p.Lys220fs	coding	Pathogenic
15	72735833	C	CTTTA	G72735838T	BBS4	NM_033028.5(BBS4):c.1116_1119dup:p.Val374fs	coding	Pathogenic
15	72735842	A	AC	T72735845C	BBS4	NM_033028.5(BBS4):c.1126dup:p.Leu376fs	coding	Pathogenic
15	72735939	C	CAAT	G72735944A	BBS4	NM_033028.5(BBS4):c.1223_1225dup:p.Asn408dup	coding	Benign
15	72735943	AG	A	G72735944C	BBS4	NM_033028.5(BBS4):c.1226del:p.Ser409fs	coding	Pathogenic
15	73325000	T	TGGTGAGCACGCTG	A73325014G	HCN4	NM_005477.3(HCN4):c.1920_1932dup:p.Lys645fs	coding	Pathogenic
15	73325403	CG	C	G73325406A	HCN4	NM_005477.3(HCN4):c.1631del:p.Pro544fs	coding	Pathogenic
15	74181302	G	GA	G74181304A	STRA6	NM_022369.4(STRA6):c.1676dup:p.Asp560fs	coding	Pathogenic
15	74182375	GT	G	T74182377C	STRA6	NM_022369.4(STRA6):c.1385del:p.Asn462fs	coding	Pathogenic
15	74190856	CC	TT	C74190856T	STRA6	NM_022369.4(STRA6):c.910_911delinsAA:p.Gly304Lys	coding	Pathogenic
15	74195316	G	GACACTCTGCCCTCTGCCAA	G74195335A	STRA6	NM_022369.4(STRA6):c.582_583insTTGGCAGAGGGCAGAGTGT:p.Pro195fs	coding	Pathogenic
15	74195417	AG	A	G74195418A	STRA6	NM_022369.4(STRA6):c.481del:p.Leu161fs	coding	Pathogenic
15	74196066	CA	C	A74196069C	STRA6	NM_022369.4(STRA6):c.347del:p.Leu116fs	coding	Pathogenic
15	74197784	CG	C	G74197787T	STRA6	NM_022369.4(STRA6):c.147del:p.Gly50fs	coding	Pathogenic
15	74202150	CTT	C	T74202151A	STRA6	NM_022369.4(STRA6):c.113+3_113+4del	noncoding	Pathogenic
15	74202216	AGT	GG	A74202216G	STRA6	NM_022369.4(STRA6):c.50_52delinsCC:p.Asp17fs	coding	Pathogenic
15	74202231	C	CGG	A74202237G	STRA6	NM_022369.4(STRA6):c.35_36dup:p.Gly13fs	coding	Pathogenic
15	74343131	AT	A	T74343132G	CYP11A1	NM_000781.3(CYP11A1):c.835del:p.Ile279fs	coding	Pathogenic
15	74890590	TGGCGC	T	G74890594T	MPI	NM_002435.3(MPI):c.84_88del:p.Arg29fs	coding	Pathogenic
15	74891395	A	AC	G74891401C	MPI	NM_002435.3(MPI):c.166dup:p.Arg56fs	coding	Pathogenic/Likely_pathogenic
15	74893279	TG	T	G74893281A	MPI	NM_002435.3(MPI):c.631del:p.Glu211fs	coding	Pathogenic
15	75375855	CG	C	G75375857A	SIN3A	NM_001145358.2(SIN3A):c.3400del:p.Arg1134fs	coding	Pathogenic
15	75384339	CTG	C	G75384345T	SIN3A	NM_001145358.2(SIN3A):c.3114_3115CA[2]:p.Gln1040fs	coding	Pathogenic
15	75389716	ATC	A	T75389723A	SIN3A	NM_001145358.2(SIN3A):c.2949_2950GA[3]:p.Glu985fs	coding	Pathogenic
15	75389744	A	ATGAG	C75389750G	SIN3A	NM_001145358.2(SIN3A):c.2925_2928dup:p.Ser977fs	coding	Pathogenic
15	75392245	GTTCT	G	C75392248G	SIN3A	NM_001145358.2(SIN3A):c.2844_2847del:p.Lys948fs	coding	Pathogenic
15	75392282	CTT	C	T75392283G	SIN3A	NM_001145358.2(SIN3A):c.2809_2810del:p.Lys937fs	coding	Pathogenic
15	75392613	TGG	T	G75392615C	SIN3A	NM_001145358.2(SIN3A):c.2478_2479del:p.Gln827fs	coding	Pathogenic
15	75400134	GA	G	A75400137C	SIN3A	NM_001145358.2(SIN3A):c.1759del:p.Ser587fs	coding	Pathogenic
15	75400890	TC	T	C75400892T	SIN3A	NM_001145358.2(SIN3A):c.1576del:p.Glu526fs	coding	Pathogenic
15	75410134	C	CA	C75410136A	SIN3A	NM_001145358.2(SIN3A):c.1160dup:p.Leu388fs	coding	Pathogenic
15	75410281	CTCTT	C	T75410285G	SIN3A	NM_001145357.1(SIN3A):c.1010_1013del:p.Lys337Serfs	coding	Pathogenic
15	75411651	G	GT	G75411653T	SIN3A	NM_001145358.2(SIN3A):c.848dup:p.His283fs	coding	Pathogenic
15	75411696	T	TG	A75411702G	SIN3A	NM_001145358.2(SIN3A):c.803dup:p.Leu269fs	coding	Pathogenic
15	75411736	TG	T	G75411739A	SIN3A	NM_001145358.2(SIN3A):c.763del:p.Gln255fs	coding	Pathogenic
15	76285675	CG	C	G76285676A	ETFA	NM_000126.4(ETFA):c.625del:p.Arg209fs	coding	Pathogenic
15	76285676	GA	G	A76285677T	ETFA	NM_000126.4(ETFA):c.624del:p.Arg209fs	coding	Pathogenic
15	76286436	AAC	A	A76286439T	ETFA	NM_000126.4(ETFA):c.493_494GT[1]:p.Ser167fs	coding	Pathogenic
15	76311363	T	TGCCCCGGAGCC	G76311378C	ETFA	NM_000126.4(ETFA):c.15_25dup:p.Gln9fs	coding	Pathogenic
15	76471313	CATTG	C	A76471318C	SCAPER	NM_020843.3(SCAPER):c.2973_2976del:p.Ile991Metfs	coding	Pathogenic
15	76574189	AG	A	G76574192T	SCAPER	NM_020843.4(SCAPER):c.2806del:p.Thr935_Leu936insTer	coding	Pathogenic
15	76753812	GCTT	G	C76753822G	SCAPER	NM_020843.3(SCAPER):c.1859_1861del:p.Glu620del	coding	Pathogenic/Likely_pathogenic
15	76995149	G	GCTGCCTGCCTGC	G76995173C	PSTPIP1	NM_003978.5(PSTPIP1):c.-421_-418CCTG[8]	noncoding	Benign
15	76995149	G	GCTGC	G76995173C	PSTPIP1	NM_003978.5(PSTPIP1):c.-421_-418CCTG[6]	noncoding	Benign
15	77028120	CTT	C	T77028121C	PSTPIP1	NM_003978.5(PSTPIP1):c.417+207_417+208del	noncoding	Benign
15	77037329	TCTC	T	C77037332T	PSTPIP1	NM_003978.5(PSTPIP1):c.*156_*158del	noncoding	Benign
15	78109271	GGGGAGCCGAC	G	G78109272T	CIB2	NM_006383.4(CIB2):c.300_309del:p.Glu100fs	coding	Pathogenic
15	78161690	TA	T	A78161694C	IDH3A	NM_005530.3(IDH3A):c.403del:p.Thr135fs	coding	Pathogenic
15	78601630	TTG	T	G78601638C	CHRNA3	NM_000743.4:c.1010_1011delCA	coding	Pathogenic
15	80153170	A	AG	A80153174G	FAH	NM_000137.3(FAH):c.81+38dup	noncoding	Benign
15	80158059	GCC	G	C80158060A	FAH	NM_000137.3(FAH):c.82_83del:p.Pro28fs	coding	Pathogenic
15	80159781	TG	T	G80159784T	FAH	NM_000137.4(FAH):c.221del:p.Gly74fs	coding	Pathogenic
15	80160448	CA	C	A80160449G	FAH	NM_000137.4(FAH):c.354del:p.Ala119fs	coding	Pathogenic
15	80168129	GAC	G	C80168131G	FAH	NM_000137.4(FAH):c.535_536del:p.Gln179fs	coding	Pathogenic
15	80168148	CTG	C	T80168151A	FAH	NM_000137.4(FAH):c.553+2_553+3del	coding	Pathogenic/Likely_pathogenic
15	80168234	GT	G	T80168248C	FAH	NM_000137.4(FAH):c.554-16del	noncoding	Benign
15	80172150	C	CT	G80172158T	FAH	NM_000137.4(FAH):c.615dup:p.Val206fs	coding	Pathogenic
15	80173141	GC	G	C80173142A	FAH	NM_000137.3(FAH):c.835del:p.Gln279fs	coding	Pathogenic
15	80180140	T	TG	C80180142G	FAH	NM_000137.4(FAH):c.978dup:p.Leu327fs	coding	Pathogenic
15	80180164	CTG	C	G80180166C	FAH	NM_000137.4(FAH):c.1003_1004del:p.Val335fs	coding	Pathogenic
15	80180188	CG	C	G80180193A	FAH	NM_000137.4(FAH):c.1030del:p.Asp344fs	coding	Pathogenic
15	80574202	A	ATC	G80574205T	ARNT2	NM_014862.4(ARNT2):c.1372_1373dup:p.Tyr459fs	coding	Pathogenic
15	80948905	TGAA	T	A80948916T	CEMIP	NM_001293298.2(CEMIP):c.4069_4071AAG[3]:p.Lys1360del	coding	Benign
15	80979291	C	CT	G80979300T	MESD	NM_015154.3(MESD):c.632dup:p.Lys212fs	coding	Pathogenic
15	80979291	CTT	C	T80979298G	MESD	NM_015154.3(MESD):c.631_632del:p.Lys211fs	coding	Pathogenic
15	80979312	CTTTGT	C	G80979316A	MESD	NM_015154.3(MESD):c.607_611del:p.Thr203fs	coding	Pathogenic
15	82538938	CCT	C	C82538941T	RPS17	NM_001021.6(RPS17):c.199_200AG[1]:p.Gly68fs	coding	Pathogenic
15	82659627	ACAGT	A	T82659631C	AP3B2	NM_001278512.2(AP3B2):c.3235_3238del:p.Thr1079fs	coding	Pathogenic
15	82661861	CAG	C	A82661862G	CPEB1-AS1;AP3B2	NM_001278512.2(AP3B2):c.2978_2979del:p.Pro993fs	coding	Pathogenic
15	82663148	TGTGA	T	A82663152T	AP3B2	NM_001278512.2(AP3B2):c.2579_2582del:p.Leu860fs	coding	Pathogenic
15	82664387	CTCCTCA	C	C82664398G	AP3B2	NM_001278512.2(AP3B2):c.2229_2234TGAGGA[1]:p.743_744DE[1]	coding	Benign
15	82666761	TC	T	C82666763A	AP3B2	NM_001278512.2(AP3B2):c.1837del:p.Glu613fs	coding	Pathogenic
15	82674431	CTGGAGGTGAGTGTCCATTTGCCTGAACAGCCTACTCTGGGTTCCCTGACAGGGGTCATTCCTAGGGGAGGGTTCAGCTGTATATACCCACAGCTCGCTGTGCCAACCCTGATGACAGCTGTTACTGCTGTGTTTAAAATGTTTATTTTTGTCCTGTTTCTCCTACTTGGCTGTGAGTATCTGGAGACCTGTAAATGTGTCTCACTCATTGTCATATCCTCAGGACGCAGCACAGTACCAGGCAAATAGTAGGCCTACATGTTAAATAAATGAACAAATGCACATGTAGCTCACAGTAACAACTTGGGGGAAATGACATGTGGACAGGCCCAGGCTTATGAAAACATGCCAACCTCACCATCCTGGGGTTTAGGACTCTGGCTCAGTGCTGAGCATGTCAGACTCCCACCTACATATATGTTAAATAAATGAACAAATGCACATGTAGCTCACAGTGACAACTTGGGGGAAATGACATGTGGACAGGCCCAGGCTTATGAAAACATGCCAACCTCACCATCCTGGGGTTTAGGACTCTGGCTCATTGCTGAGCATGTCAAGACTCCCACCTACCTGGGTGGCTCCCCACCCAGGCTGCTTCATCTTTTCAAACATTCCTCCCACTTGCTCCTTCCTCCCACCTGAACAAAGGAAGTATACAAATATTTTTTCAACGATTGAACGCTTCCCCATGGTGCTCTTTCTCCCTCTAACTTCTCTCTCTCCCCCTCTAACTTCTCTCTCTCCAATCTGCTTTGCCCACAACACTGATAACAAGCTCAGGGTCACATGGTCCAGTGTCTCTCCTCCTTCCACCTGAAGACCTAAGGTTTGGAAGTTACTTTTGATAAGGCTAGCATATTTAATTATACAGACTCAGTTGCCTCCACATGTTGCTGCTGTCCTTTGACTCCTGATTACAGTCACAGCACTTGGTGGCCCTGCCTACCTCACCTTGAGCCTCTGGGGCTCACTCTGGCCACAATGGATCAAAGAAGCCACTGAAAAAGATAAGTGCCACCATCCAAAGACTCCCACGCACAGTGGACATGGCAGGGATGCTACAGTCTCCAGGGGATATCCCTGCTATAAATCTGTAGACCCCAGCCACCTAGCCAGAGGTTTTGCTTCAAGGATTGGCAGAGTCTTTTTATAAAAGGGCCAGAGAATAACTATTCTAGGCTTTGTGGGCAATACAGTCTGTTGCAACTAGTTAACCCTGCTGTTGTAGCACAAAAGCAGCCATAGGTAATTTGTAAATGAATGAGCAGGGCTGTGTTCCAACAAAACTTTATTACAAAAACAGGAATAGGCCAAATTCAGCCTATGGGCAGTAGTTTGCCAATCCCTGTCCTGCTTAACTGAGTGGGAGAGTGTGGAAATCGTCATGGTGTTTGATGTCCCTGACACCTTGAAAAGCTCAGCACATTATGCTTCATTTTAGGAGAATCTCCTGGAACCATCTCAGGAGATGCCAGACAGCTAGGAGGCTCTGAACACCCTGATACTACAACTTAGTTGAGCCTCATCCTTGGCTGTGTATCTCTTATAACCTTTCACCTTGGGAATGACAGTGGCCACCAGCACCACCCAAGCCCAAGCAGAGACTCACCCCCTTATCTTTGGCACAGACTGGCCAAGCATTGTCAAGCTTTGGAAAGAAGCACAGACCACATCTGGGATGCATGTTCTCCCATCAGTACCTGCCACTGTTGGGCCCTTCCCTTATCCCAATCAACTGTGGTTCTTCACAGCCCCAGAGTTCCAAGGTGGCAGACAGGACTCTTGTACTAGCAGACTGGAGGTCACAGCTTCATAGGAGAGTCTCTTCAACAGTGACCACCAGCACTACAAGGTCTTTGTGGGCACTGGGGTAGCATTGGTTATGTGGGCAGACCAGCCACCTTCCCTGATTCTTCTTTTCCAAAATAGGAGCTAGAGTTCAGCCCTGCCTAGGGAGGGCCAAAAGAATACTGTCTAGGGAGTTTCTGGGGACCAGAGTATCTGGGGGGTCATCTCTTAATCTTTACCTGTTTAGAGTTGGTCAGGTAGAGCTTGGCTGCCAGGTTGATGACCTGCAGCTTGACAATATCCTCCTCTGCTGTGAATGACTTGGCCATTTTTCTTAAGACATCAGGTGCAATCCTGGGGACATGCTCACAGTACTCTCCGATGAGCCACAGGATGCTGGCTCGGGCCATGGGCACCTGTGGTTGTGGGAGAGGAGTGAAGATGGGTAAATACGGGAAAGTGGGTGGGTAGGATTGTGGACTTCCAGGGAAACAGCACTCCTCATCTGTGCTGGCCTGTTGTATTATGGGTTCTCTGGAAATGGGAGTTGGGGGTGGTGAGATAGAGAGAGGTTAAAAGGTAGACATTTCCTAGACAGCATTTCCCCTCTTCCCTAGGGCTTCATTAGCATAGAGCTTTCAAGACCCTAAGTCAGTCATGA	C	G82674434T	AP3B2	NM_001278512.2(AP3B2):c.1489-245_1665+2029del	noncoding	Pathogenic
15	82680581	G	GGCTCTGCA	A82680592T	AP3B2	NM_001278512.2(AP3B2):c.938_945dup:p.Arg316fs	coding	Pathogenic
15	82851186	T	TG	A82851188G	HOMER2	NM_004839.4(HOMER2):c.807dup:p.Met270fs	coding	Pathogenic
15	83264181	ACCCGG	A	G83264185T	BNC1	NM_001717.4(BNC1):c.1065_1069del:p.Arg356fs	coding	Pathogenic
15	84604078	CCT	C	C84604079G	ZSCAN2	NM_181877.4(ZSCAN2):c.152_153del:p.Pro51fs	coding	Benign
15	84643645	ACTTGGCTCCGTGTTCCAT	A	T84643665C	WDR73	NM_032856.5(WDR73):c.926_943ATGGAACACGGAGCCAAG[1]:p.309_314DGTRSQ[1]	coding	Benign
15	84643718	CA	C	A84643722C	WDR73	NM_032856.5(WDR73):c.888del:p.Phe296fs	coding	Pathogenic
15	84645587	C	CG	T84645593G	WDR73	NM_032856.5(WDR73):c.766dup:p.Arg256fs	coding	Pathogenic/Likely_pathogenic
15	84645602	CAA	C	A84645604G	WDR73	NM_032856.5(WDR73):c.750_751del:p.Cys251fs	coding	Pathogenic
15	84645634	G	GCTGGGCCCAGGGCC	C84645653G	WDR73	NM_032856.5(WDR73):c.706_719dup:p.Ser240fs	coding	Pathogenic
15	84645784	GGT	G	G84645787C	WDR73	NM_032856.5(WDR73):c.566_567AC[1]:p.Thr190fs	coding	Pathogenic
15	84646299	ACT	A	T84646303C	WDR73	NM_032856.3(WDR73):c.400_401delAG:p.Trp136Alafs	coding	Pathogenic
15	84839806	AG	A	G84839807A	ALPK3	NM_020778.4(ALPK3):c.1134del:p.Ile379fs	coding	Pathogenic
15	84856972	CG	C	G84856975T	ALPK3	NM_020778.5(ALPK3):c.2237del:p.Gly746fs	coding	Pathogenic
15	84857207	A	AT	C84857209T	ALPK3	NM_020778.5(ALPK3):c.2470dup:p.Ser824fs	coding	Pathogenic
15	88838863	GA	G	A88838865G	ACAN	NM_001369268.1(ACAN):c.273del:p.Arg93fs	coding	Pathogenic
15	88845622	AG	A	G88845625T	ACAN	NM_001369268.1(ACAN):c.1172del:p.Gly391fs	coding	Pathogenic
15	88845675	TC	T	C88845680A	ACAN	NM_001369268.1(ACAN):c.1227del:p.Ser410fs	coding	Pathogenic
15	88845877	CA	C	A88845878G	ACAN	NM_001369268.1(ACAN):c.1425del:p.Val478fs	coding	Pathogenic
15	88849448	CT	C	T88849450C	ACAN	NM_001369268.1(ACAN):c.1745del:p.Phe582fs	coding	Pathogenic
15	88855120	AC	A	C88855126G	ACAN	NM_001369268.1(ACAN):c.2541del:p.Val848fs	coding	Pathogenic
15	88856339	G	GC	T88856344C	ACAN	NM_001369268.1(ACAN):c.3758dup:p.Gly1254fs	coding	Pathogenic
15	88856769	CT	C	T88856771C	ACAN	NM_001369268.1(ACAN):c.4186del:p.Ser1396fs	coding	Pathogenic
15	88857919	AC	A	C88857922T	ACAN	NM_001369268.1(ACAN):c.5337del:p.Phe1780fs	coding	Pathogenic
15	88857973	TG	T	G88857976C	ACAN	NM_001369268.1(ACAN):c.5391del:p.Gln1798fs	coding	Pathogenic
15	88858072	TACATTTGTGG	T	T88858076C	ACAN	NM_001369268.1(ACAN):c.5491_5500del:p.Phe1831fs	coding	Pathogenic
15	88859115	TG	T	G88859119A	ACAN	NM_001369268.1(ACAN):c.6534del:p.Thr2179fs	coding	Pathogenic
15	89215076	TCTTGA	T	G89215080T	POLG;RLBP1	NM_000326.5(RLBP1):c.504_508del:p.Ser168fs	coding	Pathogenic
15	89217111	TGGCCTC	T	G89217112A	RLBP1	NM_000326.5(RLBP1):c.346+3_346+8del	noncoding	Benign/Likely_benign
15	89217183	AG	A	G89217184C	RLBP1	NM_000326.5(RLBP1):c.282del:p.Phe95fs	coding	Pathogenic
15	89217207	T	TCTCC	G89217212C	RLBP1	NM_000326.5(RLBP1):c.255_258dup:p.Arg87fs	coding	Pathogenic
15	89218626	GT	G	T89218628G	RLBP1	NM_000326.5(RLBP1):c.79del:p.Thr27fs	coding	Pathogenic
15	89268371	GCTCATAA	G	C89268374T	FANCI	NM_001113378.2(FANCI):c.756-25_756-19del	noncoding	Pathogenic
15	89268517	CACTT	C	C89268519A	FANCI	NM_001113378.2(FANCI):c.876_879del:p.His292fs	coding	Pathogenic
15	89283216	CCTCTCAGTGCAGTCAGT	C	C89283226T	FANCI	NM_001113378.2(FANCI):c.1674_1690del:p.Ser559fs	coding	Pathogenic
15	89295025	CAG	C	A89295026G	FANCI	NM_001113378.2(FANCI):c.2568_2569del:p.Gly857fs	coding	Pathogenic
15	89301429	CCTCCT	C	T89301436A	FANCI	NM_018193.3(FANCI):c.2815_2819TCCTC[1]:p.Pro941fs	coding	Pathogenic
15	89305414	G	GT	G89305416T	FANCI	NM_001113378.1(FANCI):c.3255+6dup	noncoding	Benign/Likely_benign
15	89306092	CCACGAGCTGGTGCAGACAG	C	A89306094T	FANCI	NM_001113378.2(FANCI):c.3437_3455del:p.His1146fs	coding	Pathogenic
15	89306148	AG	A	G89306150A	FANCI	NM_001113378.1(FANCI):c.3493del:p.Asp1165fs	coding	Pathogenic
15	89307642	CCT	C	C89307643G	FANCI	NM_001113378.2(FANCI):c.3622_3623del:p.Leu1208fs	coding	Pathogenic
15	89307643	CTG	C	G89307647T	FANCI	NM_018193.3(FANCI):c.3444_3445GT[1]:p.Cys1149fs	coding	Pathogenic
15	89312912	TA	T	A89312914G	FANCI	NM_018193.3(FANCI):c.3482del:p.Lys1161fs	coding	Pathogenic
15	89312920	T	TGAAC	T89312925G	FANCI	NM_018193.3(FANCI):c.3489_3492dup:p.Tyr1165fs	coding	Pathogenic
15	89315364	A	AG	A89315367G	FANCI	NM_001113378.2(FANCI):c.3901dup:p.Asp1301fs	coding	Pathogenic
15	89316396	GGGCACTGCATCAGAGCATGGGGGACAGAACAAAGAACCAGCCAAGAAGAAAAGGAAAAAATAAATGAAATGCCTGAGTTAATGTGAACTTTGGGGCTTCTGCTTCATTTTTACCCAACAAGCAACAATGCCCCTTGTCCTGTAGTCCACACCGATGTTGGCATCTTGGTTCTGAACCCACTGAATTCAACTGCACCTTCAGTTAGAAGGAATCTTCTTGGCAGGTCCTGCTACTGAAAAATGGCTGGCCTTAGGCAAGCCCTTTTGCAAAAAGCACAGCTGAAAGCCTGAGTTTGGGAGCCTGCACCACCCCGATGAAGCTCCACGGGAGCAAATACAGAGCCTCCAGGCAGTGCTATGGTCCAGGCTGGCTTCGTTTTTCCAAGGAGCCTTTGGTGAGTTCAATTATCTGGTAAATATCCAGCGCTTCACCTGAAAGATAGTGCAAATTGGTTAGGATGCCACCTCAAGAACTGTAACTGAGAGCTCAGAAGTGAGCAAAGGAGCTTAATGCTAAGGTCAAAAGGAGAGTGAAAGGTTGAGAACAATTGCCACGAACGGTAATGTTACATGTTAGGAGGGTCTGTTTTCTTTTTATATAAGTGTGTCTTAGATATATTTTAAATAGAAAATAAGCTTTCTGATTTACTTGTTTGGTATTTAAAGCACAGTTTGTTTTTCTGTCACCTATAGAGTGCAAGAATGCACTCTATAGAATAAATTATCTTTAAACATT	G	G89316397T	FANCI	NM_001113378.2(FANCI):c.3925_*672del:p.Gly1309_Ter1329del	coding	Pathogenic
15	89316701	A	AC	A89316704C	POLG;FANCI	NM_002693.2(POLG):c.*49dup	noncoding	Benign/Likely_benign
15	89316797	T	TC	A89316799C	POLG	NM_001113378.2(FANCI):c.*339dup	coding	Pathogenic
15	89317388	C	CG	T89317390G	POLG	NM_002693.2(POLG):c.3630dup:p.Gly1211fs	coding	Pathogenic
15	89317406	C	CAGTT	G89317411A	POLG	NM_002693.2(POLG):c.3609_3612dup:p.Gly1205fs	coding	Pathogenic
15	89317441	ACTTC	A	T89317448G	POLG	NM_002693.2(POLG):c.3570_3573GAAG[1]:p.Lys1191_Glu1192insTer	coding	Pathogenic
15	89317521	GTAGGCAAACATGCACCTGA	G	T89317522A	POLG	NM_002693.2(POLG):c.3483-4_3497del	coding	Pathogenic/Likely_pathogenic
15	89317525	G	GCAAA	T89317532A	POLG	NM_001126131.2(POLG):c.3490_3493dup:p.Ala1165fs	coding	Pathogenic
15	89318575	C	CA	G89318577A	POLG	NM_002693.2(POLG):c.3447dup:p.Ala1150fs	coding	Pathogenic
15	89318589	T	TCCTC	T89318595C	POLG	NM_001126131.2(POLG):c.3430_3433dup:p.Asp1145fs	coding	Pathogenic
15	89318613	A	AC	T89318616C	POLG	NM_002693.2(POLG):c.3409dup:p.Val1137fs	coding	Pathogenic/Likely_pathogenic
15	89318661	T	TCAAA	G89318668A	POLG	NM_002693.2(POLG):c.3358_3361dup:p.Glu1121delinsValTer	coding	Pathogenic
15	89318948	A	AG	C89318952G	POLG	NM_001126131.2(POLG):c.3255dup:p.Ser1086fs	coding	Pathogenic
15	89319044	CTG	C	T89319047C	POLG	NM_002693.3(POLG):c.3156_3157CA[1]:p.Thr1053fs	coding	Pathogenic
15	89319048	G	GC	T89319055C	POLG	NM_002693.2(POLG):c.3155dup:p.Thr1053fs	coding	Pathogenic
15	89319054	CT	C	T89319056C	POLG	NM_002693.2(POLG):c.3149del:p.Lys1050fs	coding	Pathogenic
15	89319113	AAC	A	C89319115G	POLG	NM_002693.2(POLG):c.3105-16_3105-15delGT	noncoding	Benign/Likely_benign
15	89319239	TTC	T	C89319245G	POLG	NM_001126131.2(POLG):c.3087_3088GA[2]:p.Glu1031fs	coding	Pathogenic
15	89319274	TCCAGCCACCCTCAGTCCTGTCCACTGGGAGGTTCAACTCCCTCA	T	C89319283T	POLG	NM_002693.2(POLG):c.3014_3057del:p.Val1005fs	coding	Pathogenic
15	89320862	G	GC	A89320864C	POLG	NM_002693.3(POLG):c.2884dup:p.Ala962fs	coding	Pathogenic
15	89320945	CTT	C	T89320946A	POLG	NM_002693.2(POLG):c.2800_2801del:p.Lys934fs	coding	Pathogenic
15	89321085	G	GCTAC	G89321088A	POLG	NM_002693.2(POLG):c.2734+39_2734+40insGTAG	noncoding	Benign
15	89321184	T	TC	A89321187C	POLG	NM_001126131.2(POLG):c.2674dup:p.Asp892fs	coding	Pathogenic
15	89321789	T	TGC	C89321792G	POLG	NM_002693.2(POLG):c.2543_2544dup:p.Thr849fs	coding	Pathogenic
15	89321818	GC	G	C89321822A	POLG	NM_002693.2(POLG):c.2515del:p.Ala839fs	coding	Pathogenic
15	89322772	GA	G	A89322775T	POLG	NM_001126131.2(POLG):c.2395del:p.Ser799fs	coding	Pathogenic
15	89323438	A	ATGTCCACGTCGTTG	A89323454G	POLG	NM_002693.2(POLG):c.2217_2230dup:p.Ile744fs	coding	Pathogenic
15	89323809	GC	CT	G89323809C	POLG	NM_002693.2(POLG):c.2157+5_2157+6delinsAG	noncoding	Pathogenic
15	89324138	AG	A	G89324140A	POLG	NM_002693.2(POLG):c.2038del:p.Leu680fs	coding	Pathogenic
15	89325511	TG	T	G89325512T	POLG	NM_002693.3(POLG):c.1887del:p.Asp629fs	coding	Pathogenic
15	89325580	AG	A	G89325582T	POLG	NM_002693.3(POLG):c.1818del:p.Trp607fs	coding	Pathogenic
15	89326742	TG	T	G89326743A	POLG	NM_002693.2(POLG):c.1586-5del	coding	Benign
15	89326934	AG	A	G89326938C	POLG	NM_002693.2(POLG):c.1562del:p.Pro521fs	coding	Pathogenic
15	89327328	CAG	C	A89327331T	POLG	NM_001126131.2(POLG):c.1268_1269CT[1]:p.Leu424fs	coding	Pathogenic
15	89327434	A	AC	A89327438C	POLG	NM_002693.2(POLG):c.1251-88dup	noncoding	Benign
15	89328714	T	TG	C89328716G	POLG	NM_002693.2(POLG):c.1140dup:p.Thr381fs	coding	Pathogenic
15	89328781	CT	C	T89328782C	POLG	NM_002693.2(POLG):c.1073del:p.Glu358fs	coding	Pathogenic
15	89329004	T	TTGTGTTTGCCC	C89329018T	POLG	NM_002693.2(POLG):c.951_961dup:p.Lys321fs	coding	Pathogenic
15	89330237	G	GT	A89330239T	POLG	NM_002693.2(POLG):c.698dup:p.Tyr233Ter	coding	Pathogenic
15	89333108	GA	G	A89333109T	POLG	NM_002693.2(POLG):c.646del:p.Ser216fs	coding	Pathogenic
15	89333596	TTGCTGCTGCTGCTGCTGCTGCTGCTGCTGC	T	T89333600C	POLG	NM_001126131.2(POLG):c.126_128GCA[1]:p.Gln46_Gln55del	coding	Benign
15	89333596	TTGCTGCTGCTGCTGC	T	T89333615C	POLG	NM_002693.2(POLG):c.144_158del	coding	Benign/Likely_benign
15	89333596	TTGCTGCTGCTGC	T	T89333618C	POLG	NM_002693.3(POLG):c.126_128GCA[7]:p.Gln52_Gln55del	coding	Benign/Likely_benign
15	89333596	TTGCTGCTGC	T	T89333621C	POLG	NM_002693.2(POLG):c.150_158del	coding	Benign/Likely_benign
15	89333596	TTGCTGC	T	T89333624C	POLG	NM_002693.2(POLG):c.153_158del	coding	Benign/Likely_benign
15	89333596	TTGC	T	T89333627C	POLG	NM_002693.3(POLG):c.126_128GCA[10]:p.Gln55del	coding	Benign
15	89333596	T	TTGC	C89333630T	POLG	NM_001126131.2(POLG):c.126_128GCA[12]:p.Gln55dup	coding	Benign/Likely_benign
15	89333596	T	TTGCTGC	C89333630T	POLG	NM_002693.2(POLG):c.126_128GCA[13]:p.Gln54_Gln55dup	coding	Benign/Likely_benign
15	89333596	T	TTGCTGCTGC	C89333630T	POLG	NM_002693.2(POLG):c.126_128GCA[14]:p.Gln53_Gln55dup	coding	Benign/Likely_benign
15	89333597	T	TTGC	G89333598T	POLG	NM_002693.3(POLG):c.157_158insGCA:p.Gln53delinsArgLys	coding	Benign
15	89333597	T	TTGCTGC	G89333598T	POLG	NM_002693.3(POLG):c.157_158insGCAGCA:p.Gln53delinsArgSerLys	coding	Benign
15	89630503	C	CAG	G89630504A	KIF7	NM_198525.3(KIF7):c.3112-11_3112-10insCT	noncoding	Benign
15	89631708	GGC	G	G89631709C	KIF7	NM_198525.3(KIF7):c.2896_2897del:p.Ala966fs	coding	Pathogenic
15	89646974	C	CG	C89646978G	KIF7	NM_198525.3(KIF7):c.1643dup:p.Arg549fs	coding	Pathogenic
15	89648591	CG	C	G89648592C	KIF7	NM_198525.3(KIF7):c.1106del:p.Ala369fs	coding	Pathogenic
15	89649085	TC	T	C89649087T	KIF7	NM_198525.3(KIF7):c.811del:p.Glu271fs	coding	Pathogenic
15	89649209	GC	G	C89649214G	KIF7	NM_198525.3(KIF7):c.687del:p.Arg230fs	coding	Pathogenic
15	89649309	C	CA	G89649311A	KIF7	NM_198525.3(KIF7):c.587dup:p.Glu197fs	coding	Pathogenic
15	89652713	GC	G	C89652715T	KIF7	NM_198525.3(KIF7):c.217del:p.Ala73fs	coding	Pathogenic
15	89666952	ACT	A	C89666953G	PLIN1	NM_002666.5(PLIN1):c.1191_1192del:p.Val398fs	coding	Pathogenic
15	89776612	CGCCA	C	C89776615G	MESP2	NM_001039958.2(MESP2):c.258_261del:p.Glu88fs	coding	Pathogenic/Likely_pathogenic
15	89776637	A	AT	G89776639T	MESP2	NM_001039958.2(MESP2):c.281dup:p.Met94fs	coding	Pathogenic
15	89776824	C	CG	T89776829G	MESP2	NM_001039958.2(MESP2):c.471dup:p.Ser158fs	coding	Pathogenic
15	89776853	C	CCCGA	T89776861A	MESP2	NM_001039958.2(MESP2):c.500_503dup:p.Gly169fs	coding	Pathogenic
15	89776889	GAGGGGCAGGGGCAAGGGCAGGGGC	G	G89776915A	MESP2	NM_001039958.2(MESP2):c.534_557GGGGCAGGGGCAAGGGCAGGGGCA[1]:p.180_181QG[9]	coding	Benign
15	89776891	GGGGCAGGGGCAAGGGCAGGGGCAGGGGCAGGGGCAA	G	G89776906A	MESP2	NM_001039958.2(MESP2):c.549_584del:p.180_181QG[7]	coding	Benign/Likely_benign
15	89776891	G	GGGGCAGGGGCAA	G89776915A	MESP2	NM_001039958.1(MESP2):c.535_546[(2_4)]:p.Gly205_Arg206insGlnGlyGlnGly	coding	Benign
15	89776903	AGGGCAGGGGCAG	A	G89776915A	MESP2	NM_001039958.2(MESP2):c.552_557GGGGCA[1]:p.180_181QG[11]	coding	Benign/Likely_benign
15	89776915	GGGGCAGGGGCAA	G	G89776930A	MESP2	NM_001039958.2(MESP2):c.561_572GCAGGGGCAAGG[1]:p.180_181QG[11]	coding	Benign
15	89776915	GGGGCAGGGGCAAGGGCAGGGGCAA	G	G89776918A	MESP2	NM_001039958.2(MESP2):c.561_584del:p.180_181QG[9]	coding	Benign
15	90749478	CTT	C	T90749481C	BLM	NM_000057.4(BLM):c.213_214del:p.Ser72fs	coding	Pathogenic
15	90749562	AAC	A	C90749566G	BLM	NM_000057.4(BLM):c.296_297CA[1]:p.Gln100fs	coding	Pathogenic/Likely_pathogenic
15	90749586	A	AT	A90749589T	BLM	NM_000057.4(BLM):c.320dup:p.Leu107fs	coding	Pathogenic/Likely_pathogenic
15	90749638	AAC	A	A90749643C	BLM	NM_000057.4(BLM):c.371_372AC[2]:p.Pro126fs	coding	Pathogenic
15	90749705	ATTCT	A	C90749708A	BLM	NM_000057.4(BLM):c.440_443del:p.Asp146_Ser147insTer	coding	Pathogenic
15	90749745	CTT	C	T90749747G	BLM	NM_000057.4(BLM):c.479_480del:p.Asp159_Phe160insTer	coding	Pathogenic/Likely_pathogenic
15	90749824	TCAA	T	C90749825A	BLM	NM_000057.4(BLM):c.557_559del:p.Ser186_Lys187delinsTer	coding	Pathogenic
15	90749844	CTT	C	T90749849A	BLM	NM_000057.4(BLM):c.581_582del:p.Phe193_Phe194insTer	coding	Pathogenic/Likely_pathogenic
15	90749867	CAACA	C	A90749872C	BLM	NM_000057.4(BLM):c.600_603AACA[1]:p.Asn202fs	coding	Pathogenic
15	90749886	TG	T	G90749887A	BLM	NM_000057.4(BLM):c.619del:p.Asp207fs	coding	Pathogenic
15	90749967	CGATGTGATTTGCAT	C	G90749968C	BLM	NM_000057.4(BLM):c.700_713del:p.Asp234fs	coding	Pathogenic
15	90749974	AT	A	T90749977G	BLM	NM_000057.4(BLM):c.709del:p.Cys237fs	coding	Pathogenic
15	90750035	ACT	A	C90750040G	BLM	NM_000057.4(BLM):c.768_769CT[2]:p.Leu258fs	coding	Pathogenic/Likely_pathogenic
15	90751823	AATTACATTCAACTGAGAAAGTTCCATGTATTGAATTTGATGATGATGATT	A	T90751826G	BLM	NM_000057.4(BLM):c.839_888del:p.Glu279_Leu280insTer	coding	Pathogenic
15	90751828	CA	C	A90751829T	BLM	NM_000057.4(BLM):c.842del:p.His281fs	coding	Pathogenic
15	90754838	CAGAAA	C	A90754842G	BLM	NM_000057.4(BLM):c.991_995del:p.Lys331fs	coding	Pathogenic/Likely_pathogenic
15	90754893	A	AT	G90754895T	BLM	NM_000057.4(BLM):c.1043dup:p.Met348fs	coding	Pathogenic
15	90754931	CTG	C	T90754934A	BLM	NM_000057.4(BLM):c.1081_1082TG[1]:p.Cys361_Asp362delinsTer	coding	Pathogenic/Likely_pathogenic
15	90760095	CT	C	T90760107C	BLM	NM_000057.4(BLM):c.1088-40del	coding	Benign
15	90760186	TG	T	G90760188A	BLM	NM_000057.4(BLM):c.1129del:p.Glu377fs	coding	Pathogenic
15	90760230	C	CTGAAACTT	T90760240G	BLM	NM_000057.4(BLM):c.1173_1180dup:p.Leu394Ter	coding	Pathogenic
15	90760236	CTT	C	T90760239G	BLM	NM_000057.4(BLM):c.1180_1181del:p.Leu394fs	coding	Pathogenic
15	90760624	TAA	T	A90760627G	BLM	NM_000057.4(BLM):c.1254_1255del:p.Lys418_Ser419insTer	coding	Pathogenic
15	90760624	TA	T	A90760628G	BLM	NM_000057.4(BLM):c.1255del:p.Ser419fs	coding	Pathogenic
15	90760666	G	GC	T90760669C	BLM	NM_000057.4(BLM):c.1295dup:p.Pro432_Asp433insTer	coding	Pathogenic
15	90760688	AT	A	T90760689G	BLM	NM_000057.4(BLM):c.1316del:p.Met439fs	coding	Pathogenic/Likely_pathogenic
15	90760757	TC	T	C90760758T	BLM	NM_000057.4(BLM):c.1385del:p.Ser462fs	coding	Pathogenic
15	90760812	C	CT	G90760814T	BLM	NM_000057.4(BLM):c.1440dup:p.Ala481fs	coding	Pathogenic
15	90760850	AAT	A	T90760852C	BLM	NM_000057.4(BLM):c.1479_1480del:p.Thr494fs	coding	Pathogenic/Likely_pathogenic
15	90760870	CT	C	T90760873G	BLM	NM_000057.4(BLM):c.1500del:p.Phe500fs	coding	Pathogenic
15	90760908	GA	G	A90760917T	BLM	NM_000057.4(BLM):c.1544del:p.Asn515fs	coding	Pathogenic
15	90760908	G	GA	T90760918A	BLM	NM_000057.4(BLM):c.1544dup:p.Asn515fs	coding	Pathogenic/Likely_pathogenic
15	90760936	AG	A	G90760938A	BLM	NM_000057.4(BLM):c.1565del:p.Gly522fs	coding	Pathogenic
15	90760996	TG	T	G90760997A	BLM	NM_000057.4(BLM):c.1624del:p.Asp542fs	coding	Pathogenic
15	90761001	TAGAA	T	A90761005G	BLM	NM_000057.4(BLM):c.1632_1635del:p.Arg545fs	coding	Pathogenic
15	90763050	T	TG	A90763052G	BLM	NM_000057.4(BLM):c.1968dup:p.Lys657fs	coding	Pathogenic
15	90763063	TAA	T	A90763068T	BLM	NM_000057.4(BLM):c.1985_1986del:p.Lys662fs	coding	Pathogenic
15	90765297	AG	A	G90765299T	BLM	NM_000057.4(BLM):c.2078del:p.Gly693fs	coding	Pathogenic
15	90766921	A	AT	A90766923T	BLM	NM_000057.4(BLM):c.2206dup:p.Tyr736fs	coding	Pathogenic
15	90766922	TATC	T	A90766923T	BLM	NM_000057.4(BLM):c.2207_2209del:p.Tyr736del	coding	Pathogenic
15	90766923	ATCTGA	TAGATTC	A90766923T	BLM	NM_000057.4(BLM):c.2207_2212delinsTAGATTC:p.Tyr736fs	coding	Pathogenic
15	90766924	TCTGAC	GATATGT	T90766924G	BLM	NM_000057.4(BLM):c.2208_2213delinsGATATGT:p.Tyr736_Thr738delinsTer	coding	Pathogenic
15	90766966	C	CAAAT	C90766967A	BLM	NM_000057.4(BLM):c.2250_2251insAAAT:p.Leu751fs	coding	Pathogenic/Likely_pathogenic
15	90766977	CA	C	A90766984G	BLM	NM_000057.4(BLM):c.2268del:p.Asp757fs	coding	Pathogenic
15	90767003	CTA	C	A90767007G	BLM	NM_000057.4(BLM):c.2289_2290AT[1]:p.Tyr764fs	coding	Pathogenic/Likely_pathogenic
15	90769165	G	GGA	A90769170G	BLM	NM_000057.4(BLM):c.2341_2342GA[3]:p.Asn782fs	coding	Pathogenic/Likely_pathogenic
15	90769170	ATC	A	C90769174A	BLM	NM_000057.4(BLM):c.2347_2348CT[1]:p.Leu783_Tyr784insTer	coding	Pathogenic
15	90769178	G	GTT	A90769179T	BLM	NM_000057.4(BLM):c.2353_2354insTT:p.Glu785fs	coding	Pathogenic
15	90769437	G	GT	G90769439T	BLM	NM_000057.4(BLM):c.2407dup:p.Trp803fs	coding	Pathogenic
15	90769478	TG	T	G90769479C	BLM	NM_000057.4(BLM):c.2448del:p.Met816fs	coding	Pathogenic
15	90769518	T	TA	C90769520A	BLM	NM_000057.4(BLM):c.2488dup:p.Thr830fs	coding	Pathogenic/Likely_pathogenic
15	90769536	CA	C	A90769537G	BLM	NM_000057.4(BLM):c.2506del:p.Arg836fs	coding	Pathogenic
15	90769536	CAG	C	A90769537G	BLM	NM_000057.4(BLM):c.2506_2507del:p.Arg836fs	coding	Pathogenic/Likely_pathogenic
15	90769569	GA	G	A90769570T	BLM	NM_000057.4(BLM):c.2539del:p.Ile847fs	coding	Pathogenic
15	90782844	CAT	C	T90782846A	BLM	NM_000057.4(BLM):c.2580_2581del:p.His860fs	coding	Pathogenic
15	90782914	GAA	G	A90782916G	BLM	NM_000057.4(BLM):c.2650_2651del:p.Lys884fs	coding	Pathogenic
15	90790672	TGGAATGG	T	A90790676T	BLM	NM_000057.4(BLM):c.2851_2857del:p.Met951fs	coding	Pathogenic
15	90790746	AC	A	C90790748A	BLM	NM_000057.4(BLM):c.2923del:p.Gln975fs	coding	Pathogenic
15	90794174	AG	A	G90794175A	BLM	NM_000057.4(BLM):c.3028del:p.Asp1010fs	coding	Pathogenic/Likely_pathogenic
15	90794198	AACTC	A	C90794202T	BLM	NM_000057.4(BLM):c.3055_3058del:p.His1019fs	coding	Pathogenic
15	90794268	CT	C	T90794272G	BLM	NM_000057.4(BLM):c.3125del:p.Leu1042fs	coding	Pathogenic
15	90794359	T	TA	G90794367A	BLM	NM_000057.4(BLM):c.3210+9dup	noncoding	Benign
15	90798237	AT	A	T90798240G	BLM	NM_000057.4(BLM):c.3261del:p.Phe1087fs	coding	Pathogenic
15	90798283	CAT	C	A90798284G	BLM	NM_000057.4(BLM):c.3305_3306del:p.His1102fs	coding	Pathogenic/Likely_pathogenic
15	90803636	CTT	C	T90803637A	BLM	NM_000057.4(BLM):c.3475_3476del:p.Leu1159fs	coding	Pathogenic/Likely_pathogenic
15	90803659	AG	A	G90803661C	BLM	NM_000057.4(BLM):c.3499del:p.Ala1167fs	coding	Pathogenic/Likely_pathogenic
15	90803668	CT	C	T90803670A	BLM	NM_000057.4(BLM):c.3508del:p.Tyr1170fs	coding	Pathogenic/Likely_pathogenic
15	90804171	AC	A	C90804172T	BLM	NM_000057.4(BLM):c.3564del:p.Phe1189fs	coding	Pathogenic
15	90804177	T	AA	T90804177A	BLM	NM_000057.4(BLM):c.3569delinsAA:p.Met1190fs	coding	Pathogenic
15	90804196	CA	C	A90804197G	BLM	NM_000057.4(BLM):c.3589del:p.Ser1197fs	coding	Pathogenic/Likely_pathogenic
15	90804298	GAA	G	A90804300G	BLM	NM_000057.4(BLM):c.3692_3693del:p.Lys1231fs	coding	Pathogenic/Likely_pathogenic
15	90804334	T	TA	C90804336A	BLM	NM_000057.4(BLM):c.3727dup:p.Thr1243fs	coding	Pathogenic
15	90804341	ACT	A	T90804345A	BLM	NM_000057.4(BLM):c.3737_3738del:p.Leu1246fs	coding	Pathogenic
15	90811216	TC	T	C90811220A	BLM	NM_000057.4(BLM):c.3890del:p.Pro1297fs	coding	Pathogenic/Likely_pathogenic
15	90811287	A	AC	G90811291C	BLM	NM_000057.4(BLM):c.3960dup:p.Val1321fs	coding	Pathogenic
15	90999940	CT	C	T90999941C	VPS33B	NM_018668.4(VPS33B):c.1616del:p.Glu539fs	coding	Pathogenic
15	91003094	CTG	C	G91003098T	VPS33B	NM_018668.4(VPS33B):c.1259_1260CA[1]:p.Gln421fs	coding	Pathogenic
15	91006391	A	AG	C91006393G	VPS33B	NM_018668.4(VPS33B):c.832dup:p.Leu278fs	coding	Pathogenic
15	91013810	AG	A	G91013813C	VPS33B	NM_018668.5(VPS33B):c.350delC	coding	Pathogenic
15	91014026	TGGCCAACATGGTGAAACTCTGTCTCTACTAAAAACACAAAAAATTAGCCCGATCTGGTGGTGGGCACCTGTAATCCCAGCTACTTGGGAGGCTAAGGCAAGAGAATCGCTTGAACCCAGGAGGCGGAGGTTGCAGTGAGCCGAGATCGTGCCATTGCACTCCAGACTGGGCAACAAGAGTGAAACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAGAAGCGGGGAAGCAGACATCCTCCACAAGTGCTACGGCCAACTCAAACAATTATTTTCTTATTAGAGGGTCCTTATGGCCAAGGCCCTTAGATTTTGCCCGCCCTTTCCCACAGTTACACATAGTACCATGGCACACTCACTGGCAATGTATCGCATATTCTTGATGCGGGGTCTGACCAAGAAGCACAATCTATGAGAGAGAAAGAAAAAAAAACAGTGAAGAAGAATTATCAAGTTGGATAGCAACTTAGAAGAAACTGAAACAATACCAACTCTTTTGCCATTTGCCCTACAGGTCTCATCCTAGCCAAAGCTATGCTATTCTCTTGGTCCACCATATACCAACCACAGAAGATACCTCTCAACACAATGGGTATAATGTGATGAGCTGGGTACATTACTGGCCCTATGGTGGACCCAAAAGTTCCTGTTCTCAAATAATTTACAATCCAGTGGGCAAAAAAAGATGCAGATATGGAGTATATTAACAATCAGTGCTGAAAAACAATATAAGAATACCCCATAAAAATATACAATTATTATCTGTCAGTTAAAAATAAAGGCTGGGCATGGTGGCTCACACCTGTAATCTTAACACTCCGGGAAGCCAAGGTGAGAAGATTGCTTGAGCTCAGGAGTTCGAAACTAGCCTCAGCAACACAGTGAGACCTCATCTCTATTAAAAATAATAATAGTGCTGTAATCCCAGCACTTTGGGAGGCAGAGGCGCGTGGATCACCTGAGGTCAGGAGTTTGAGACCAGCCCA	T	G91014028C	VPS33B	NM_018668.4(VPS33B):c.240-577_290-156del	noncoding	Pathogenic
15	91014430	CA	C	A91014432T	VPS33B	NM_001289149.1(VPS33B):c.-32del	coding	Pathogenic
15	91014444	GAA	G	A91014446G	VPS33B	NM_018668.4(VPS33B):c.240-13_240-12del	noncoding	Benign/Likely_benign
15	92128494	TGGGATGGGGCAG	T	G92128512T	SLCO3A1	NM_013272.4(SLCO3A1):c.1512+23_1512+34del	noncoding	Benign
15	92926987	G	GTATGTT	A92926991G	CHD2	NM_001271.4(CHD2):c.295-254_295-253insGTTTAT	noncoding	Benign
15	92937588	CA	C	A92937596G	CHD2	NM_001271.4(CHD2):c.522del:p.Lys174_Val175insTer	coding	Pathogenic/Likely_pathogenic
15	92941875	CTG	C	T92941876G	CHD2	NM_001271.4(CHD2):c.747_748del:p.Gly250fs	coding	Pathogenic
15	92942893	AGTGGT	A	T92942895A	CHD2	NM_001271.4(CHD2):c.879_883del:p.Ser293fs	coding	Pathogenic
15	92943059	TC	T	C92943060A	CHD2	NM_001271.4(CHD2):c.1044del:p.Lys349fs	coding	Pathogenic
15	92944494	CAGAT	C	A92944497T	CHD2	NM_001271.4(CHD2):c.1135_1138del:p.Gln378_Ile379insTer	coding	Pathogenic
15	92948956	TG	AAGTCTGAA	T92948956A	CHD2	NM_001271.4(CHD2):c.1382_1383delinsAAGTCTGAA:p.Leu461delinsGlnValTer	coding	Pathogenic
15	92949024	C	CT	C92949027T	CHD2	NM_001271.4(CHD2):c.1452dup:p.Arg485fs	coding	Pathogenic
15	92953393	A	AG	A92953396G	CHD2	NM_001271.4(CHD2):c.1541dup:p.Thr516fs	coding	Pathogenic
15	92953404	TC	T	C92953406A	CHD2	NM_001271.4(CHD2):c.1552del:p.Gln518fs	coding	Pathogenic
15	92953499	CAGAG	C	A92953504T	CHD2	NM_001271.4(CHD2):c.1650_1653del:p.Arg550fs	coding	Pathogenic
15	92953499	CAG	C	A92953506T	CHD2	NM_001271.4(CHD2):c.1646_1647AG[3]:p.Glu551fs	coding	Pathogenic
15	92953499	C	CAG	T92953508A	CHD2	NM_001271.4(CHD2):c.1652_1653dup:p.Phe552fs	coding	Pathogenic
15	92955454	CCAAAAGATTGAAGTTCAACGCACTTATAACAA	C	A92955457T	CHD2	NM_001271.4(CHD2):c.1754_1785del:p.Lys585fs	coding	Pathogenic
15	92955509	TA	T	A92955511G	CHD2	NM_001271.4(CHD2):c.1808del:p.Lys603fs	coding	Pathogenic
15	92955511	AG	A	G92955513T	CHD2	NM_001271.4(CHD2):c.1809+1del	coding	Pathogenic
15	92956539	T	TA	C92956544A	CHD2	NM_001271.4(CHD2):c.1894dup:p.Thr632fs	coding	Pathogenic
15	92956543	ACT	A	C92956546G	CHD2	NM_001271.4(CHD2):c.1895_1896CT[1]:p.Leu633fs	coding	Pathogenic
15	92978325	AC	A	C92978330A	CHD2	NM_001271.4(CHD2):c.2674del:p.Gln892fs	coding	Pathogenic
15	92979171	G	GA	G92979173A	CHD2	NM_001271.4(CHD2):c.2765dup:p.Glu923fs	coding	Pathogenic
15	92979192	GCCAAAAAGAAGATGGT	TG	G92979192T	CHD2	NM_001271.4(CHD2):c.2785_2801delinsTG:p.Ala929_Val934delinsTer	coding	Pathogenic
15	92984433	AGG	A	G92984434A	CHD2	NM_001271.4(CHD2):c.3171_3172del:p.Glu1058fs	coding	Pathogenic
15	92984482	TC	T	C92984483G	CHD2	NM_001271.4(CHD2):c.3220del:p.Arg1074fs	coding	Pathogenic
15	92991503	TCTCC	T	C92991507T	CHD2	NM_001271.4(CHD2):c.3445_3448del:p.Pro1149fs	coding	Pathogenic
15	92997060	T	TA	T92997064A	CHD2	NM_001271.4(CHD2):c.3702dup:p.Ser1235fs	coding	Pathogenic
15	92997085	GA	G	A92997095G	CHD2	NM_001271.4(CHD2):c.3735del:p.Lys1245fs	coding	Pathogenic/Likely_pathogenic
15	92997297	A	AG	T92997299G	CHD2	NM_001271.4(CHD2):c.3780dup:p.Trp1261fs	coding	Pathogenic
15	92997299	T	TG	T92997306G	CHD2	NM_001271.3(CHD2):c.3787dupG:p.Val1263Glyfs	coding	Pathogenic
15	92998601	GC	G	C92998602T	CHD2	NM_001271.4(CHD2):c.3989del:p.Ala1330fs	coding	Pathogenic
15	93002269	CAAAG	C	A93002272G	CHD2	NM_001271.4(CHD2):c.4233_4236del:p.Glu1412fs	coding	Pathogenic
15	93002286	AAAGAAAGAAGTCAAAAGAT	A	A93002295G	CHD2	NM_001271.4(CHD2):c.4256_4274del:p.Lys1419fs	coding	Pathogenic
15	93004616	GC	G	C93004618T	CHD2	NM_001271.4(CHD2):c.4280del:p.Pro1427fs	coding	Pathogenic
15	93014704	GAAGA	G	A93014709C	CHD2	NM_001271.4(CHD2):c.4702_4705AAGA[1]:p.Lys1569fs	coding	Pathogenic
15	93014722	TG	T	G93014727T	CHD2	NM_001271.4(CHD2):c.4724del:p.Gly1575fs	coding	Pathogenic
15	93014769	ACT	A	C93014774G	CHD2	NM_001271.4(CHD2):c.4767_4768CT[2]:p.Leu1591fs	coding	Pathogenic
15	93014841	G	GC	A93014845C	CHD2	NM_001271.4(CHD2):c.4841dup:p.Gln1615fs	coding	Pathogenic
15	93020034	AAG	A	G93020036A	CHD2	NM_001271.4(CHD2):c.4931_4932del:p.Arg1644fs	coding	Pathogenic
15	93020072	C	CA	T93020074A	CHD2	NM_001271.4(CHD2):c.4968dup:p.Trp1657fs	coding	Pathogenic
15	96332196	GGCCCGCC	G	C96332202G	NR2F2	NM_021005.4(NR2F2):c.97_103del:p.Pro33fs	coding	Pathogenic
15	96332202	CCGCCCGG	C	G96332208C	NR2F2	NM_021005.4(NR2F2):c.103_109del:p.Gly35fs	coding	Pathogenic
15	96332313	A	AAGC	A96332330G	NR2F2	NM_021005.4(NR2F2):c.210_212GCA[6]:p.Gln75dup	coding	Pathogenic
15	96334487	T	TG	T96334490G	NR2F2	NM_021005.4(NR2F2):c.856dup:p.Val286fs	coding	Pathogenic
15	96337403	GTGTGCTT	G	T96337406G	NR2F2	NM_021005.4(NR2F2):c.1029_1035del:p.Cys343fs	coding	Pathogenic
15	98649525	CTTTTTTTTT	C	T98649541G	IGF1R	NM_000875.5(IGF1R):c.-41_-33del	noncoding	Benign
15	98707879	C	CG	C98707886G	IGF1R	NM_000875.5(IGF1R):c.418dup:p.Ala140fs	coding	Pathogenic
15	98899619	A	AG	T98899623G	IGF1R	NM_000875.5(IGF1R):c.1247+1dup	coding	Pathogenic
15	98916706	C	CA	T98916708A	IGF1R	NM_000875.5(IGF1R):c.2032dup:p.Ile678fs	coding	Pathogenic
15	98924573	GC	G	C98924575A	IGF1R	NM_000875.5(IGF1R):c.2673del:p.Lys892fs	coding	Pathogenic
15	98930249	TG	T	G98930253A	IGF1R	NM_000875.5(IGF1R):c.2904del:p.Asn969fs	coding	Pathogenic
15	98934851	CTC	G	C98934851G	IGF1R	NM_000875.5(IGF1R):c.2984_2986delinsG:p.Ala995fs	coding	Pathogenic
15	98939247	T	TGGCCGGAGAGATTGCAGAC	A98939270C	IGF1R	NM_000875.5(IGF1R):c.3348_3366dup:p.Met1123fs	coding	Pathogenic
15	98957858	CCT	C	C98957859G	IGF1R	NM_000875.5(IGF1R):c.*417_*418del	noncoding	Benign
15	98958700	GA	G	A98958710G	IGF1R	NM_000875.5(IGF1R):c.*1268del	noncoding	Benign
15	98959970	GGT	G	G98959983A	IGF1R	NM_000875.5(IGF1R):c.*2529_*2530GT[6]	noncoding	Benign
15	98960292	C	CTT	G98960300T	IGF1R	NM_000875.5(IGF1R):c.*2856_*2857dup	noncoding	Benign
15	98960297	TTTG	T	G98960300T	IGF1R	NM_000875.5(IGF1R):c.*2858_*2860del	noncoding	Benign
15	99105901	A	AG	A99105903G	SYNM	NM_145728.3(SYNM):c.703dup:p.Glu235fs	coding	Benign
15	99712504	CCAGCAG	C	A99712533C	MEF2A	NM_005587.4(MEF2A):c.1235_1237AGC[9]:p.Gln421_Gln422del	coding	Benign
15	99712504	C	CCAGCAG	C99712539A	MEF2A	NM_005587.4(MEF2A):c.1235_1237AGC[13]:p.Gln421_Gln422dup	coding	Benign
15	99973167	ACCTT	A	C99973173A	ADAMTS17	NM_139057.4(ADAMTS17):c.*1227_*1230AAGG[1]	noncoding	Benign
15	99973989	C	CAGAATAAAGCCTTT	T99974004A	ADAMTS17	NM_139057.4(ADAMTS17):c.*399_*412dup	noncoding	Benign
15	100048989	T	TC	T100048994C	ADAMTS17	NM_139057.4(ADAMTS17):c.2456-1dup	coding	Pathogenic
15	100281365	TC	T	C100281368G	ADAMTS17	NM_139057.4(ADAMTS17):c.652del:p.Asp218fs	coding	Pathogenic
15	100341917	GC	G	C100341924G	ADAMTS17	NM_139057.4(ADAMTS17):c.-19del	noncoding	Benign
15	100573649	ACCTTT	A	C100573651A	LINS1	NM_001040616.3(LINS1):c.1219_1222+1del	noncoding	Pathogenic
15	100573884	ACATG	A	C100573885A	LINS1	NM_001040616.3(LINS1):c.985_988del:p.His328_His329insTer	coding	Pathogenic
15	100574063	GA	G	A100574066T	LINS1	NM_001040616.3(LINS1):c.809del:p.Phe270fs	coding	Pathogenic
15	101251360	CG	C	G101251362A	CHSY1	NM_014918.5(CHSY1):c.96del:p.Glu33fs	coding	Pathogenic
15	101251442	GC	G	C101251444G	CHSY1	NM_014918.5(CHSY1):c.14del:p.Gly5fs	coding	Pathogenic
16	88865	G	GGT	A88869T	NPRL3	NM_001077350.3(NPRL3):c.1375_1376dup:p.Ser460fs	coding	Pathogenic
16	88869	AG	A	G88872T	NPRL3	NM_001077350.3(NPRL3):c.1372del:p.Leu458fs	coding	Pathogenic
16	88885	TGCTG	T	G88890T	NPRL3	NM_001077350.2(NPRL3):c.1353_1356delCAGC:p.Ser452Alafs	coding	Pathogenic
16	88891	CTGT	GGATGGGTCA	C88891G	NPRL3	NM_001077350.3(NPRL3):c.1352-4_1352-1delinsTGACCCATCC	noncoding	Pathogenic
16	89730	A	AGG	C89734G	NPRL3	NM_001077350.3(NPRL3):c.1332_1333dup:p.Leu445fs	coding	Pathogenic
16	89793	C	CG	C89795G	NPRL3	NM_001077350.3(NPRL3):c.1270dup:p.Arg424fs	coding	Pathogenic
16	89818	GTGAGGCCATCAGGCAGACATAGGTGTGCAGCTGGA	G	G89823A	NPRL3	NM_001077350.3(NPRL3):c.1211_1245del:p.Ile404fs	coding	Pathogenic
16	89832	CAG	C	G89834C	NPRL3	NM_001077350.3(NPRL3):c.1230_1231del:p.Cys411fs	coding	Pathogenic
16	92686	TG	T	G92689A	NPRL3	NM_001077350.3(NPRL3):c.1070del:p.Pro357fs	coding	Pathogenic
16	93224	T	TA	C93226A	NPRL3	NM_001077350.3(NPRL3):c.1025dup:p.Cys343fs	coding	Pathogenic
16	98145	C	CTG	C98148T	NPRL3	NM_001077350.3(NPRL3):c.922_923dup:p.Gln308fs	coding	Pathogenic
16	98233	G	GA	G98235A	NPRL3	NM_001077350.3(NPRL3):c.835dup:p.Ser279fs	coding	Pathogenic
16	100494	GC	G	C100497G	NPRL3	NM_001077350.3(NPRL3):c.644del:p.Gly215fs	coding	Pathogenic
16	112742	GCAGA	G	A112746T	NPRL3	NM_001077350.3(NPRL3):c.423_426del:p.Leu142fs	coding	Pathogenic/Likely_pathogenic
16	117316	CA	C	A117317C	NPRL3	NM_001077350.3(NPRL3):c.377del:p.Val126fs	coding	Pathogenic/Likely_pathogenic
16	117344	TC	T	C117347T	NPRL3	NM_001077350.3(NPRL3):c.349del:p.Glu117fs	coding	Pathogenic
16	117352	CG	C	G117356A	NPRL3	NM_001077350.3(NPRL3):c.341del:p.Pro114fs	coding	Pathogenic
16	138223	CG	C	G138224A	NPRL3	NM_001077350.3(NPRL3):c.44del:p.Ser15fs	coding	Pathogenic
16	172912	CA	C	A172913T	HBA2	NM_000517.6(HBA2):c.1del:p.Met1fs	coding	Pathogenic
16	172913	AT	A	T172914G	HBA2	NM_000517.6(HBA2):c.2del:p.Met1fs	coding	Pathogenic
16	172971	CG	C	G172972C	HBA2	NM_000517.6(HBA2):c.60del:p.His21fs	coding	Pathogenic
16	172980	GC	G	C172981G	HBA2	NM_000517.6(HBA2):c.69del:p.Glu24fs	coding	Pathogenic
16	173002	GGA	G	A173006G	HBA2	NM_000517.6(HBA2):c.92_93AG[1]:p.Arg32fs	coding	Pathogenic
16	173004	AGAGGT	A	T173009C	HBA2	NM_000517.6(HBA2):c.95+2_95+6del	coding	Pathogenic
16	173146	C	CA	C173148A	HBA2	NM_000517.6(HBA2):c.118dup:p.Thr40fs	coding	Pathogenic
16	173147	ACCAAGA	TACTTC	A173147T	HBA2	NM_000517.6(HBA2):c.118_124delinsTACTTC:p.Thr40fs	coding	Pathogenic
16	173448	G	CTCGGCCC	G173448C	HBA2	NM_000517.6(HBA2):c.301-24delinsCTCGGCCC	noncoding	Benign
16	173448	G	CTCGGCC	G173448C	HBA2;LOC106804612	NM_000517.6(HBA2):c.301-24delinsCTCGGCC	noncoding	Benign
16	173493	GT	G	T173494G	HBA2	NM_000517.6(HBA2):c.323del:p.Val108fs	coding	Pathogenic
16	173512	TC	T	C173516G	HBA2	NM_000517.6(HBA2):c.345del:p.Ala116fs	coding	Pathogenic
16	173691	TAA	T	A173693G	HBA2;LOC106804612	NM_000517.6(HBA2):c.*93_*94del	noncoding	Pathogenic
16	176171	AGGGCGTCCGGGTGCGCGCATTCCTCTCCGCCCCAGGATTGGGCGAAGCCTCCCGGCTCGCACTCGCTCGCCCGTGTGTTCCCCGATCCCGCTGGAGTCGATGCGCGTCCAGCGCGTGCCAGGCCG	A	T176177G	HBA1	NC_000016.10:g.176177_176301del	noncoding	Benign
16	176806	GGA	G	A176810G	HBA1	NM_000558.5(HBA1):c.92_93AG[1]:p.Arg32fs	coding	Pathogenic
16	177018	AG	A	G177020T	HBA1	NM_000558.5(HBA1):c.187del:p.Val63fs	coding	Pathogenic
16	177069	AC	A	C177070G	HBA1	NM_000558.5(HBA1):c.237del:p.Asn79fs	coding	Pathogenic
16	177377	C	CT	G177379T	HBA1	NM_000558.5(HBA1):c.396dup:p.Val133fs	coding	Pathogenic
16	309972	CGGGAATGTGAGGTAGGGGCACCCGCCCATTGA	C	G309973C	AXIN1	NM_003502.4(AXIN1):c.1085_1116del:p.Val362fs	coding	Pathogenic
16	680588	GA	G	A680590G	STUB1	NM_005861.4(STUB1):c.65del:p.Lys22fs	coding	Pathogenic
16	682047	C	CT	C682054T	STUB1	NM_005861.4(STUB1):c.646dup:p.Ser216fs	coding	Pathogenic
16	682395	G	GC	T682401C	STUB1	NM_005861.4(STUB1):c.823dup:p.Leu275fs	coding	Pathogenic
16	682399	CCT	C	C682400G	STUB1	NM_005861.4(STUB1):c.823_824del:p.Leu275fs	coding	Pathogenic
16	682461	C	CT	G682463T	STUB1	NM_005861.4(STUB1):c.885dup:p.Glu296Ter	coding	Pathogenic
16	725954	CC	AA	C725954A	CCDC78	NM_001031737.3(CCDC78):c.180+11_180+12delinsTT	noncoding	Benign
16	767016	AGCCAGGGAGTCCCTG	A	A767024T	MSLN	NM_005823.6(MSLN):c.1501+12_1501+26del	noncoding	Benign
16	1200706	GC	G	C1200713A	CACNA1H	NM_021098.3(CACNA1H):c.1120-3del	noncoding	Benign
16	1210973	T	TG	C1210980G	CACNA1H	NM_021098.3(CACNA1H):c.4223+8dup	noncoding	Benign
16	1220349	TG	CA	T1220349C	CACNA1H	NM_021098.3(CACNA1H):c.6417_6418inv:p.Ala2140Thr	coding	Benign
16	1362061	CCAA	C	A1362067C	GNPTG	NM_032520.5(GNPTG):c.344_346ACA[1]:p.Asn116del	coding	Pathogenic
16	1362097	GTGACGCCTGCCGT	G	G1362099C	GNPTG	NM_032520.5(GNPTG):c.379_391del:p.Asp127fs	coding	Pathogenic
16	1362227	AGCAACCGGCTG	A	A1362230C	GNPTG	NM_032520.5(GNPTG):c.436_446del:p.Asn146fs	coding	Pathogenic
16	1362237	TG	T	G1362239C	GNPTG	NM_032520.5(GNPTG):c.445del:p.Ala149fs	coding	Pathogenic
16	1362271	C	CGTAG	C1362273T	GNPTG	NM_032520.5(GNPTG):c.478_479insTAGG:p.Ala160fs	coding	Pathogenic
16	1362287	A	AC	T1362294C	GNPTG	NM_032520.4(GNPTG):c.499dup:p.Leu167Profs	coding	Pathogenic
16	1362316	G	GC	T1362318C	GNPTG	NM_032520.5(GNPTG):c.523dup:p.Leu175fs	coding	Pathogenic
16	1362526	A	AC	A1362533C	GNPTG	NM_032520.5(GNPTG):c.607dup:p.Gln203fs	coding	Pathogenic/Likely_pathogenic
16	1362533	A	AC	G1362534C	GNPTG	NM_032520.5(GNPTG):c.608_609insC:p.Gln203fs	coding	Pathogenic
16	1362561	GGTGGGCCTGGCTGGGAGCTGGGTGCTGCCCCTGC	G	G1362562A	GNPTG	NM_032520.5(GNPTG):c.609+28_610-16del	noncoding	Pathogenic
16	1362609	AG	A	G1362612C	GNPTG	NM_032520.4(GNPTG):c.611delG:p.Gly204Alafs	noncoding	Pathogenic
16	1362620	A	AT	A1362621T	GNPTG	NM_032520.5(GNPTG):c.619_620insT:p.Lys207fs	coding	Pathogenic
16	1362635	CT	C	T1362640G	GNPTG	NM_032520.5(GNPTG):c.639del:p.Phe213fs	coding	Pathogenic
16	1362640	TGAGGATGCTGGCTACTTAAAGACCCCAG	T	G1362641A	GNPTG	NM_032520.5(GNPTG):c.640_667del:p.Glu214fs	coding	Pathogenic
16	1362711	TG	T	G1362715T	GNPTG	NM_032520.5(GNPTG):c.714del:p.Phe239fs	coding	Pathogenic
16	1511093	A	AGTAG	A1511099T	IFT140	NM_014714.4(IFT140):c.4236_4239dup:p.Tyr1414fs	coding	Pathogenic
16	1519144	ACCCCAGAATCGACACGTGCAGGTGGACCGTGCCCTTCCAAGGGGCACCGCTTTGTACGACCTTGTTCAAAGGACTTCTGGAACTCTTGTTTTGGAAAAGGTTCTCCGATAAGGAAAACAGCCCTGCCAGCTGAGACAGAAGCTGGGCCCTGAAGCGCACAGGCGAGTGCCCACCGTGGTGGCCACACAGCAGCTCTCTGAAAAGCTGAGTCACCTGCCCATAATAAAGATGGGGAGGTGTTCAAATAAACTTAGCATCTTGGCCTCTCCTGAAAACCGAGACCATCGGCTGGCTGCCTGGGTCTCCTCTCCACAAGCTTGGAGCTGGTGGCAGTTGACCTGTGGAGAGGCATGAGCCCTCTGGTCACCATGGTCCCCCAACCCCAGGTCACACAGCGGCACTCACTCAGGACTCCCCTGCCCGGCCCCTGCACACCCTCAGCAGGTCTGTGGCTCCCCAGACACACCCTCTCCTGCTCCACATCTGCCTCCTCCTCCCACTCCCCCACCAGGTTTCTCTCTCAGCGTCTCTGGTGTTTCCAGAACACCTTCCCAAGGCTGTGCCCGGGCTCTGAGGGCTCCCAGGAGGAGGTGGGGTGTGTCTTCAGCAGTAGTGCTGTCCCAAGTGAGCTCCCATCTGCTGTCCTGCCCTTTTGCTGGCTGGGGTTTCTCGTGGTCAGCCCCGGCCCTGTAGTCACATCTGCCCTGGCCTGTCCCCGCTGGCCCCGGGGGCACACCTGCGGGCCTGGATGAACCTCTTCACCAGTGCCATCCTGCTCTGCAGCTGCGCCAGCCTGGTCTCCTGGTCCAGGGGGCTCTTGGCCTTGGCCTTGGCCAGGCACTTGTAGGCCTCGGTCAGCGCCCCGTGGGCTTTGTCGTAGTTCTGGTATTCATCAATCTCCACCTGTACAGATGAAACCCGTCAAGACCTGCCGGGCTCCACAGCCCTCCCCGGGGCCCCGCTGGCATGCCAGGGAGGGCCTGCACCTGGGCACAAGCGTCATAAAAGCCAGCCAGGAGGTCCAGGGCCCGCCCCTTGGTGTAGAAGCCGATGATGTTCTTCATGATCTCCGGCTCCTTCCGCCAGTCCAGGGACTGCAGGTAGTTAGCAGCCATGATGTAGATTTCCTTCTGCCTGGACACGCTCGCGAAGAACGTGATTTTCTCCGTGTCTCCGGATTTGAGCAGCGCCCTCATGGCCTAGGCAGAGAGACAGCGGGGCTCAGGCAAGCAGGGGCTGGGCCGGGACAAGCACAAGGGACCCCGAGCAGGAGCTCTCACAAGAAGAGTGGCTCAGGGCTGCCCGGTAGAGAGAGATCTTAGTGGTTGTGCTCTTCCTGGCCAGAAAGGCTCAGCCCTAGCTTGGGGTCATCACGAAGGCAAATGGAGATGCGTGCAGGGGGCCCGCAGCCTAACTGCCTGTGAGGTAGCCGCGGGCTGGGGCCGGGAGAGGCTCACCTTCAGCTTGTTGCCGGCCTGCGTGTACTTCTTGGTGGCCAGGTGGTAGCTGCCCTGGCGCATGCAGCAGTCTGCTATCTGCTCCAGCAGCTCCCGCCGCGACTCCTCAGGCAGGTCCGAGGAGTCCTTGGCCACGGTCATCTTTTCCGCCATCTCCTCGGTGATGCTCATGTTCTGCCCCAGGCACAGCTGCAGGGCTTCCTGATACTGCAAAGGTGCAGAAATGGGACGGGGCTGCCGAGGGGGCCGGGAACTGAAGTGCGCCCCTCATCTGCCACCGCTTCAGAGGAAACCAGGCCCCTCGGCTCAGCGGCGGCTTCTGTCTAGCTGGGGTGGGTATGGAGGGGACAAGGATGTCTCCCCTGCCTCACCAACCTACAATCATTCACGTTACTTTCTCACGCTGTTAACATTCCAGAATGGAACGAAGGAAACAATAGTCTCAAGTGATATATGCTCAAGAGAATATTACGTTTGGGAGAAAAGGAAATTGGTAATTTTCTTCTATAATTCTGAATTTTTAAAGTTAAATTTTTGAGACAGGGTCTCACTCTGTCCCCCAGGCTGGAGTGCAGTGGTGCAGTCACGGCAGCCTCCACCTCCCCAGGGTCAGGTGATCTTCCTACCTCAGTTTTTGTATTTTCAGTAGAGACGGGGTTTTGCAATGTTGCCCAGGCTGGTCTTGAACTCCTGGGCTCAAGCAATCCGCCTGCCTTAGCCTCCCAAAGTGCTGGGATTGCAGGCACAAGCCACCGTGCCGGCCTGATTTTCCTAACATTTTAAGAAATATATATATTTTTTTCTGAGGTGGGGTTTTGCTCTTATTGCCCAGGCTGGAGTGCAGTGGCACAATCTTGGCTCACTGCAACCTCCACCTCCCGGGTTCAAGCCATTCTCCTGCCTCAGCCTACCAAGTAGCTGGGATTACAGGCGCCCGCCACCATGCCCGGCTAATTTTGTAATTTTTTTTAGTAGAGACAGGGTTTCTCCCTGTTGGTCAGGCTGGGCTCAAACTCCTGACCTCAGGTGATCCACCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCACACCCAGCCCTCATTTTAAGAAAAATTTTACATTCTTCACTTGAGAATATGTCTTAGGCCGGGCATGTTGGCTCATGCCTGTAATTCCAGCACTTTGGGAGGCCAAGGTGAGAGGATCACTTGGGCCTA	G	A1519144G	IFT140	NM_014714.4(IFT140):c.3454-1003_4040+737delinsC	noncoding	Pathogenic
16	1519939	TG	T	G1519941T	IFT140	NM_014714.4(IFT140):c.3981del:p.Arg1328fs	coding	Pathogenic
16	1520004	G	GC	G1520009C	IFT140	NM_014714.4(IFT140):c.3916dup:p.Ala1306fs	coding	Pathogenic
16	1523905	CG	C	G1523910A	IFT140	NM_014714.4(IFT140):c.3192del:p.Glu1065fs	coding	Pathogenic
16	1524833	TCCCG	CCCC	T1524833C	IFT140	NM_014714.4(IFT140):c.2944_2948delinsGGGG:p.Arg982fs	coding	Pathogenic
16	1566160	CTTAT	C	T1566162A	IFT140	NM_014714.4(IFT140):c.1898_1901del:p.Asn633fs	coding	Pathogenic
16	1571517	GA	TT	G1571517T	IFT140	NM_014714.4(IFT140):c.1541_1542delinsAA:p.Leu514Gln	coding	Benign/Likely_benign
16	1583365	CG	C	G1583366T	IFT140	NM_014714.4(IFT140):c.1380del:p.Asn460fs	coding	Pathogenic
16	1587974	TTCAA	T	T1587979A	IFT140	NM_014714.4(IFT140):c.853_856TTGA[1]:p.Ile286fs	coding	Pathogenic
16	1791126	CA	C	A1791127C	IGFALS	NM_004970.2(IGFALS):c.1291del:p.Trp431fs	coding	Pathogenic
16	1791826	C	CGCGCAGGCT	C1791838G	IGFALS	NM_004970.2(IGFALS):c.583_591dup:p.Ser195_Arg197dup	coding	Pathogenic
16	1792314	TC	T	C1792319G	IGFALS	NM_004970.2(IGFALS):c.103del:p.Glu35fs	coding	Pathogenic
16	1792405	C	CG	A1792412G	IGFALS	NM_004970.3(IGFALS):c.17-10dup	coding	Benign
16	1984432	CG	C	G1984435C	GFER	NM_005262.3(GFER):c.217del:p.Ala73fs	coding	Pathogenic
16	1984435	GC	G	C1984437T	GFER	NM_005262.3(GFER):c.219del:p.Cys74fs	coding	Pathogenic/Likely_pathogenic
16	2043598	C	CATAG	C2043603A	NTHL1	NM_002528.7(NTHL1):c.650_653dup:p.Met218fs	coding	Pathogenic
16	2044694	TC	T	C2044696A	NTHL1	NM_002528.7(NTHL1):c.460del:p.Asp154fs	coding	Pathogenic
16	2044709	C	CG	C2044711G	NTHL1	NM_002528.7(NTHL1):c.445dup:p.Arg149fs	coding	Pathogenic
16	2044762	GGA	G	A2044766C	NTHL1	NM_002528.7(NTHL1):c.389_390TC[1]:p.Ser131fs	coding	Pathogenic
16	2044795	G	GCGTA	C2044801G	NTHL1	NM_002528.7(NTHL1):c.356_359dup:p.Arg121fs	coding	Pathogenic
16	2046131	TG	T	G2046138C	NTHL1	NM_002528.7(NTHL1):c.350del:p.Pro117fs	coding	Pathogenic
16	2046131	T	TG	C2046139G	NTHL1	NM_002528.7(NTHL1):c.350dup:p.Val119fs	coding	Pathogenic
16	2046249	AC	A	C2046250T	NTHL1	NM_002528.7(NTHL1):c.232del:p.Val78fs	coding	Pathogenic
16	2046270	G	GC	T2046276C	NTHL1	NM_002528.7(NTHL1):c.211dup:p.Ala71fs	coding	Pathogenic/Likely_pathogenic
16	2046278	AC	A	C2046280T	NTHL1	NM_002528.7(NTHL1):c.203del:p.Gly68fs	coding	Pathogenic/Likely_pathogenic
16	2046316	GTC	G	C2046320G	NTHL1	NM_002528.7(NTHL1):c.162_163GA[1]:p.Arg55fs	coding	Pathogenic
16	2047744	T	CC	T2047744C	NTHL1	NM_002528.7(NTHL1):c.80delinsGG:p.Glu27fs	coding	Pathogenic
16	2048626	CA	C	A2048628C	TSC2	NM_000548.5(TSC2):c.13del:p.Thr5fs	coding	Pathogenic
16	2048633	CA	C	A2048636G	TSC2	NM_000548.5(TSC2):c.21del:p.Asp8fs	coding	Pathogenic
16	2048645	CT	C	T2048647G	TSC2	NM_000548.5(TSC2):c.32del:p.Gly10_Leu11insTer	coding	Pathogenic
16	2048654	GA	G	A2048656G	TSC2	NM_000548.5(TSC2):c.41del:p.Lys14fs	coding	Pathogenic
16	2048657	G	GT	A2048661T	TSC2	NM_000548.5(TSC2):c.45dup:p.Lys16Ter	coding	Pathogenic
16	2048657	GTTTAAGA	G	T2048660C	TSC2	NM_000548.5(TSC2):c.45_51del:p.Lys16fs	coding	Pathogenic
16	2048698	CCAGGTCTGCAGAGGGTAAA	C	G2048702A	TSC2	NM_000548.5(TSC2):c.87_105del:p.Ser30fs	coding	Pathogenic
16	2048718	CAG	C	G2048720C	TSC2	NM_000548.5(TSC2):c.105_106del:p.Gln35fs	coding	Pathogenic
16	2048726	G	GTT	A2048730T	TSC2	NM_000548.5(TSC2):c.113_114dup:p.Ile39fs	coding	Pathogenic
16	2048729	T	TC	A2048730C	TSC2	NM_000548.5(TSC2):c.114_115insC:p.Ile39fs	coding	Pathogenic
16	2048744	AAT	A	T2048746C	TSC2	NM_000548.5(TSC2):c.131_132del:p.Ile44fs	coding	Pathogenic
16	2048746	TACTG	T	C2048748G	TSC2	NM_000548.5(TSC2):c.133_136del:p.Leu45fs	coding	Pathogenic
16	2048749	TGAGAG	C	T2048749C	TSC2	NM_000548.5(TSC2):c.134_138+1delinsC	coding	Pathogenic
16	2048749	TGAGA	T	A2048751T	TSC2	NM_000548.5(TSC2):c.136_138+1del	coding	Pathogenic
16	2048749	TGA	T	A2048753T	TSC2	NM_000548.5(TSC2):c.138_138+1del	coding	Pathogenic
16	2053437	C	CA	T2053439A	TSC2	NM_000548.5(TSC2):c.322dup:p.Ile108fs	coding	Pathogenic
16	2053444	CA	C	A2053445G	TSC2	NM_000548.5(TSC2):c.329del:p.Gln110fs	coding	Pathogenic
16	2054303	GT	G	T2054306G	TSC2	NM_000548.5(TSC2):c.347del:p.Leu116fs	coding	Pathogenic
16	2054306	T	TG	T2054312G	TSC2	NM_000548.5(TSC2):c.352dup:p.Val118fs	coding	Pathogenic
16	2054316	CAG	C	A2054319C	TSC2	NM_000548.5(TSC2):c.358_359AG[1]:p.Arg120fs	coding	Pathogenic
16	2054320	GC	G	C2054323T	TSC2	NM_000548.5(TSC2):c.364del:p.Leu122fs	coding	Pathogenic
16	2054383	GT	G	T2054387C	TSC2	NM_000548.5(TSC2):c.428del:p.Phe143fs	coding	Pathogenic
16	2054396	TCA	T	C2054399G	TSC2	NM_000548.5(TSC2):c.438_439CA[1]:p.Thr147fs	coding	Pathogenic
16	2055406	CTT	C	T2055408G	TSC2	NM_000548.5(TSC2):c.488_489del:p.Phe163fs	coding	Pathogenic
16	2055425	GA	G	A2055426T	TSC2	NM_000548.5(TSC2):c.506del:p.Asp169fs	coding	Pathogenic
16	2055488	T	TA	C2055490A	TSC2	NM_000548.5(TSC2):c.569dup:p.Tyr190Ter	coding	Pathogenic
16	2055500	T	TA	C2055502A	TSC2	NM_000548.5(TSC2):c.581dup:p.Tyr194Ter	coding	Pathogenic
16	2056240	TAGAG	T	A2056241G	TSC2	NM_000548.5(TSC2):c.645_648del:p.Ile215fs	coding	Pathogenic
16	2056677	T	TA	C2056679A	TSC2	NM_000548.5(TSC2):c.683dup:p.Tyr228Ter	coding	Pathogenic
16	2056702	T	TC	G2056706C	TSC2	NM_000548.5(TSC2):c.710dup:p.Leu238fs	coding	Pathogenic
16	2056718	T	TA	C2056720A	TSC2	NM_000548.5(TSC2):c.724dup:p.Thr242fs	coding	Pathogenic
16	2056759	C	CTT	G2056762T	TSC2	NM_000548.5(TSC2):c.765_766dup:p.Cys256fs	coding	Pathogenic
16	2056759	CT	C	T2056761G	TSC2	NM_000548.5(TSC2):c.766del:p.Cys256fs	coding	Pathogenic
16	2056763	CT	C	T2056764G	TSC2	NM_000548.5(TSC2):c.769del:p.Trp257fs	coding	Pathogenic
16	2057102	CA	C	A2057103G	TSC2	NM_000548.5(TSC2):c.775-2del	noncoding	Pathogenic
16	2057112	G	GT	G2057113T	TSC2	NM_000548.5(TSC2):c.782_783insT:p.Asn262fs	coding	Pathogenic
16	2057152	C	CA	C2057155A	TSC2	NM_000548.5(TSC2):c.824dup:p.Asn275fs	coding	Pathogenic
16	2057155	CAT	C	A2057156G	TSC2	NM_000548.5(TSC2):c.826_827del:p.Met276fs	coding	Pathogenic
16	2057160	G	GC	A2057163C	TSC2	NM_000548.5(TSC2):c.832dup:p.His278fs	coding	Pathogenic
16	2058765	G	GC	T2058770C	TSC2	NM_000548.5(TSC2):c.871dup:p.Leu291fs	coding	Pathogenic
16	2058786	G	GT	G2058793T	TSC2	NM_000548.5(TSC2):c.894dup:p.Val299fs	coding	Pathogenic
16	2058808	TG	T	G2058812A	TSC2	NM_000548.5(TSC2):c.914del:p.Gly305fs	coding	Pathogenic
16	2058828	TTC	T	T2058833A	TSC2	NM_000548.5(TSC2):c.931_932TC[2]:p.Leu312fs	coding	Pathogenic
16	2060672	C	CAT	G2060675A	TSC2	NM_000548.5(TSC2):c.979_980dup:p.Met327fs	coding	Pathogenic
16	2060686	AC	A	C2060687G	TSC2	NM_000548.5(TSC2):c.993del:p.Asn331fs	coding	Pathogenic
16	2060740	A	AT	A2060742T	TSC2	NM_000548.5(TSC2):c.1047dup:p.Arg350Ter	coding	Pathogenic
16	2060820	T	TG	C2060826G	TSC2	NM_000548.5(TSC2):c.1119+12dup	noncoding	Benign
16	2061883	C	CCGGA	G2061888C	TSC2	NM_000548.5(TSC2):c.1133_1136dup:p.Glu379fs	coding	Pathogenic
16	2061895	ACC	A	C2061896A	TSC2	NM_000548.5(TSC2):c.1145_1146del:p.Thr382fs	coding	Pathogenic
16	2061910	C	CT	G2061912T	TSC2	NM_000548.5(TSC2):c.1160dup:p.Leu388fs	coding	Pathogenic
16	2061944	AC	A	C2061945G	TSC2	NM_000548.5(TSC2):c.1194del:p.Asn398fs	coding	Pathogenic
16	2061962	AGGAGAGATACTTTGAACTGGT	A	A2061971G	TSC2	NM_000548.5(TSC2):c.1220_1240del:p.Tyr407_Arg413del	coding	Pathogenic
16	2062000	CAG	C	A2062003G	TSC2	NM_000548.5(TSC2):c.1252_1253del:p.Arg418fs	coding	Pathogenic
16	2062500	TCCTC	T	C2062506T	TSC2	NM_000548.5(TSC2):c.1267_1270del:p.Ser422_Leu423insTer	coding	Pathogenic
16	2062513	AC	A	C2062515T	TSC2	NM_000548.5(TSC2):c.1276del:p.Asn425_Leu426insTer	coding	Pathogenic
16	2062520	CT	C	T2062521C	TSC2	NM_000548.5(TSC2):c.1282del:p.Ser428fs	coding	Pathogenic
16	2062572	C	CT	G2062574T	TSC2	NM_000548.5(TSC2):c.1334dup:p.Gln446fs	coding	Pathogenic
16	2062575	C	CA	G2062577A	TSC2	NM_000548.5(TSC2):c.1337dup:p.Ala447fs	coding	Pathogenic
16	2062586	GGA	G	G2062591T	TSC2	NM_000548.5(TSC2):c.1348_1349GA[2]:p.Arg451fs	coding	Pathogenic
16	2062603	AG	A	G2062608T	TSC2	NM_000548.5(TSC2):c.1361+8del	noncoding	Benign
16	2062995	G	GC	A2062997C	TSC2	NM_000548.5(TSC2):c.1386dup:p.Ile463fs	coding	Pathogenic
16	2062997	A	AT	C2062999T	TSC2	NM_000548.5(TSC2):c.1388dup:p.Lys464fs	coding	Pathogenic
16	2064285	AC	A	C2064286T	TSC2	NM_000548.5(TSC2):c.1458del:p.Ser487fs	coding	Pathogenic
16	2064314	AT	A	T2064315C	TSC2	NM_000548.5(TSC2):c.1487del:p.Ile496fs	coding	Pathogenic
16	2064329	GA	G	A2064330C	TSC2	NM_000548.5(TSC2):c.1502del:p.Asp501fs	coding	Pathogenic
16	2064359	TTGCTGGTGGACCTGGCAGAGGGC	T	T2064363C	TSC2	NM_000548.5(TSC2):c.1535_1557del:p.Leu512fs	coding	Pathogenic
16	2064385	C	CCA	C2064395A	TSC2	NM_000548.5(TSC2):c.1559_1560AC[5]:p.His523fs	coding	Pathogenic
16	2064388	CACACACCACTTCAACAGCCTGCTGGACATCATCGAGAAGGTGAGAGCCGTTGTACCCGGGGCCGGGTGCTAGCGTGCCAGAGCTCCGTGGGCAGCAATGGCCTCTGGGCCCTCTGTCCTCCTCTTCGAGTG	C	A2064391C	TSC2	NM_000548.5(TSC2):c.1563_1599+94del	coding	Pathogenic
16	2064390	C	CA	C2064392A	TSC2	NM_000548.5(TSC2):c.1563dup:p.His522fs	coding	Pathogenic
16	2064409	GC	G	C2064410T	TSC2	NM_000548.5(TSC2):c.1582del:p.Leu528fs	coding	Pathogenic
16	2064410	C	CT	G2064412T	TSC2	NM_000548.5(TSC2):c.1583dup:p.Asp529fs	coding	Pathogenic
16	2065525	G	GC	G2065529C	TSC2	NM_000548.5(TSC2):c.1609dup:p.Arg537fs	coding	Pathogenic
16	2065542	A	AC	G2065548C	TSC2	NM_000548.5(TSC2):c.1628dup:p.Glu544fs	coding	Pathogenic
16	2070443	CCTCT	C	C2070448G	TSC2	NM_000548.5(TSC2):c.1717-12CT[2]	noncoding	Pathogenic
16	2070478	C	CT	A2070479T	TSC2	NM_000548.5(TSC2):c.1739_1740insT:p.Ser581fs	coding	Pathogenic
16	2070480	A	AGCCAC	G2070493C	TSC2	NM_000548.5(TSC2):c.1744_1748CACGC[3]:p.Arg585fs	coding	Pathogenic
16	2070492	CGT	C	G2070497A	TSC2	NM_000548.5(TSC2):c.1754_1755GT[2]:p.Val586_Tyr587insTer	coding	Pathogenic
16	2070497	GTA	G	A2070499G	TSC2	NM_000548.5(TSC2):c.1760_1761del:p.Val586_Tyr587insTer	coding	Pathogenic
16	2070500	TGA	T	G2070503T	TSC2	NM_000548.5(TSC2):c.1762_1763GA[1]:p.Glu588fs	coding	Pathogenic
16	2070507	CT	G	C2070507G	TSC2	NM_000548.5(TSC2):c.1768_1769delinsG:p.Leu590fs	coding	Pathogenic
16	2071508	AGGC	TTTTGA	A2071508T	TSC2	NM_000548.5(TSC2):c.1840-2_1841delinsTTTTGA	noncoding	Pathogenic
16	2071543	TCA	T	A2071545T	TSC2	NM_000548.5(TSC2):c.1875_1876del:p.Leu626fs	coding	Pathogenic
16	2071782	AG	A	G2071785A	TSC2	NM_000548.5(TSC2):c.1948del:p.Glu650Serfs	noncoding	Pathogenic
16	2071789	CAG	C	A2071796G	TSC2	NM_000548.5(TSC2):c.1953_1954AG[3]:p.Gly654fs	coding	Pathogenic
16	2071815	AGCGGCCCCCTTTCTCCTCCCACAGGGCCTCCTGGCCCGGC	A	G2071818C	TSC2	NM_000548.5(TSC2):c.1981_2020del:p.Gly661fs	coding	Pathogenic
16	2071823	CCT	C	C2071824T	TSC2	NM_000548.5(TSC2):c.1987_1988del:p.Leu663fs	coding	Pathogenic
16	2071844	TC	T	C2071846T	TSC2	NM_000548.5(TSC2):c.2009del:p.Pro670fs	coding	Pathogenic
16	2071858	CTGCAGGCCCCGCCGTGCGGCTGGGGTCCGTGCCCTACTCCCTGCTCTTCCGCGTCCTGCTGCAGTGCTTGAAGCAGGTGAGTGGGGCCGGGCAGGGACCATCCGTCCCACGTTGGGCCAGGAGGACAGGGAGCTGCCACCTGCCTGCTGGGCCTCCCTCCCTGTCTGGCCTGTGGAGGGCAGCCCTCCCTCAGAGCTGAGCCTTCCCCCTTCCCCGAGCAGCTGCAGGGACAGAGGCCTGCGCTGGGCAGGCTCCCCCGGCTGAGAACAGGGCTCCATAGCCCTTGACGCTGTGCAGCCACAAAGCAGAGCCTCAGATGCTAGCTTCCGCCTCTGTCTCTAGGGTCCAGAAGGCCCTGTCCTGACGCCTCCTCTCCTCGCAGGAGTCTGACTGGAAGGTGCTGAAGCTGGTTCTGGGCAGGCTGCCTGAGTCCCTGCGCTATAAAGTGCTCATCTTTACTTCCCCTTGCAGTGTGGACCAGCTGTGCTCTGCTCTCTGCTCCATGGTACCATGGCCGGCCTGGGGTTGGGGTGGGGGACCCAGTAGGGTTTTTCCCCAAAAGACTGCGAGCCTCTGGGCAGAGCGAGTGAGACCCTTCGGGCTCGGGCTCCATTTCCCTCAAACTCAGCTGCACTCTGGAGCGCAGATTGTGCCTTGGGCAGGGTGGAGGGACCCCTGCCCCAGCTCGCAGCTTTTGGGACTGACGTCAGAGGTCCCCAGCCAAGGGCATGTCACTGAATGTGGATGTCTCCCATCTGTGCTTTTCCTAAGTGGGGCTCCCGTGCCGTTCACCTCACATTCCTGGTGTGTTACTTGGCAGGCACTCCCACCACTCCGAAAGGGAGGCCCTTCCTGGGAGGGAGGCAAGAAGGCTCCCCAGCCCCTTTGCCCCCTTTCCTGGGCCTGCGTTCCCAGGGCCTCCCCAGCCCCTCTGGCTACCCCGTGACCTGGCCGCTGGGGAGAGGTTTCATGCCTGGATTTGGTCATCAGCTTTCAGGCCCAAAGACACTGGAGCGGCTCCGAGGCGCCCCAGAAGGCTTCTCCAGAACTGACTTGCACCTGGCCGTGGTTCCAGTGCTGACAGCATTAATCTCTTACCATAACTACCTGGACAAAACCAAACAGGTAGGAGGTCAGAGCAGGACAGGCGAGCTTGATGGGGCCTGGGATTCGAGGGCCTGGCCCAGGTAGGCCCCACATTTTTCTCATAAACGAGTTTCTGCCAGGCCAGGGATGAGTGAGTTGGCTCTGCTTCCCTGGGTGGCTGCCAGATGCCCAGAGTGGGGACATCCGATTCCCTGGTGCTTCTAGCTCTCTTTGGGGCCTGGGAGCCATCCAGTGTTCCCTGTCCACCCCGGACAGCATCTCTGCTCTCTGTAGAGCGTTGCCTGGCTTGTTCCTGCTGTCCCAAGGGGGAGGTGGCCATGCCGGTTGGTGGAGCTGGGCTGGTTCTGAGGCGCAGGGTGGGCAGGCCAGAGAGTCTGGCTTCTGCCTCCCTCCACGCCCCATCAGGTGCCGGAAACTGTCCCTTCACCTGCGATCTGCCTCGCCCCCGTCCCAGTCGCATTCTTCCACACCTCTCTTTGACATGGCCCTCCGGGACGAGGAGCTGGTGTCCTAGAGATTCTGGCCTCCGCTCAGGGCCATGCCCGCCAGGAGATGCTGACTCTGAGGCTTGGCCCATCTGTGCCCCGGGCCTCAGCTTCTGATGGTGGCCCTGTAGGGAGCTGTTGTTGGGTTCCCATCCCTCAGGCTCAGCCCCACCCTGTTGGGCCCCTTCAGCCCCTCTGAGAGGCTCACTGGGTCCTCATGGGTCTTGCCTCAAAGCATAGCCAGCCTTGCTGGGCTGCAGGTTCTGAGGCCTTACTGGCCCACAGTGTATCCGAGGGGTGAGGCCGGCTTTGGGAAATGGAAGCTGTTCCCGGGACACTGCCTGGCAGGCCATCTGGCCCCGGGCTCTGCCTGAGCTCCGCTCATCTTCTGCTGTCCTCATGGAAGACACTGCCCAGGGTTGGTGTGGGATCTGGTGGCTTGGCCACTTCAGGCAGCACTGCCCCTTGCAACAGAGCCAGCCTGTGAAGGGCCCAGAACCAGGGGATGAGAGCCCAGCATGTCTGGGTTCTGTTGGCCTGTGGGATCGTGTCGGAATGCAACTGACCGGAGCAGTCTGCTGTGCAGAGTCTGCTCGGGTAGCTCAGCACTGCTGGCTCTGCCCCACAGGCATTCA	TAAGCACTTAGTCTCCT	C2071858T	TSC2	NM_000548.5(TSC2):c.2021_2356-115delinsTAAGCACTTAGTCTCCT	coding	Pathogenic
16	2071890	C	CCCTACTCCCTGCTCTTCCGCGT	G2071916A	TSC2	NM_000548.5(TSC2):c.2057_2078dup:p.Gln695fs	coding	Pathogenic
16	2071892	C	CTACT	C2071897T	TSC2	NM_000548.5(TSC2):c.2056_2059dup:p.Ser687fs	coding	Pathogenic
16	2071901	GCT	G	C2071904T	TSC2	NM_000548.5(TSC2):c.2065_2066CT[1]:p.Phe690fs	coding	Pathogenic
16	2071906	TC	T	C2071908G	TSC2	NM_000548.5(TSC2):c.2071del:p.Arg691fs	coding	Pathogenic
16	2071923	TGCT	CG	T2071923C	TSC2	NM_000548.5(TSC2):c.2086_2089delinsCG:p.Cys696fs	coding	Pathogenic
16	2071925	C	CT	G2071928T	TSC2	NM_000548.5(TSC2):c.2090dup:p.Leu697fs	coding	Pathogenic
16	2072243	GTC	G	C2072245G	TSC2	NM_000548.5(TSC2):c.2102_2103del:p.Glu700_Ser701insTer	coding	Pathogenic
16	2072244	TCTGA	T	A2072248G	TSC2	NM_000548.5(TSC2):c.2105_2108del:p.Asp702fs	coding	Pathogenic
16	2072254	AG	A	G2072256T	TSC2	NM_000548.5(TSC2):c.2113del:p.Val705fs	coding	Pathogenic
16	2072956	CCATAACTACCTGGA	C	T2072959A	TSC2	NM_000548.5(TSC2):c.2331_2344del:p.His777fs	coding	Pathogenic
16	2072981	CAGGT	C	T2072985A	TSC2	NM_000548.5(TSC2):c.2355+2_2355+5del	coding	Pathogenic
16	2072982	A	AC	G2072983C	TSC2	NM_000548.5(TSC2):c.2354_2355insC:p.Gln785fs	coding	Pathogenic
16	2074198	AGC	A	C2074202A	TSC2	NM_000548.5(TSC2):c.2358_2359del:p.Glu787Aspfs	noncoding	Pathogenic
16	2074235	C	CCA	C2074239A	TSC2	NM_000548.5(TSC2):c.2393_2394dup:p.Arg799fs	coding	Pathogenic
16	2074273	TCTGCAGCGTGGAGATGCCTGACATCATCATCA	C	T2074273C	TSC2	NM_000548.5(TSC2):c.2429_2461delinsC:p.Ile810fs	coding	Pathogenic
16	2074295	C	CA	T2074297A	TSC2	NM_000548.5(TSC2):c.2452dup:p.Ile818fs	coding	Pathogenic
16	2074318	TTCTGGTGGTGAAGCTCACGCACATCTCAG	T	T2074319C	TSC2	NM_000548.5(TSC2):c.2475_2503del:p.Leu826fs	coding	Pathogenic
16	2074323	GT	C	G2074323C	TSC2	NM_000548.5(TSC2):c.2479_2480delinsC:p.Val827fs	coding	Pathogenic
16	2074334	C	CA	C2074336A	TSC2	NM_000548.5(TSC2):c.2491dup:p.Thr831fs	coding	Pathogenic
16	2074335	A	AC	G2074337C	TSC2	NM_000548.5(TSC2):c.2492dup:p.His832fs	coding	Pathogenic
16	2074382	CCT	C	C2074383G	TSC2	NM_000548.5(TSC2):c.2539_2540del:p.Leu847fs	coding	Pathogenic
16	2075800	TC	T	C2075801T	TSC2	NM_000548.5(TSC2):c.2548del:p.Leu850fs	coding	Pathogenic
16	2075819	C	CG	T2075820G	TSC2	NM_000548.5(TSC2):c.2566_2567insG:p.Leu856fs	coding	Pathogenic
16	2075830	CTT	C	T2075832G	TSC2	NM_000548.5(TSC2):c.2579_2580del:p.Phe860fs	coding	Pathogenic
16	2075869	CC	G	C2075869G	TSC2	NM_000548.5(TSC2):c.2616_2617delinsG:p.Leu873fs	coding	Pathogenic
16	2075896	AGTGGTCGCC	TACGGCAGGGGTTGCCGTACACCAACCCCT	A2075896T	TSC2	NM_000548.5(TSC2):c.2639+4_2639+13delinsTACGGCAGGGGTTGCCGTACACCAACCCCT	noncoding	Pathogenic
16	2076086	GTGTC	G	T2076089G	TSC2	NM_000548.5(TSC2):c.2661_2664del:p.Cys887fs	coding	Pathogenic
16	2076168	AA	G	A2076168G	TSC2	NM_000548.5(TSC2):c.2740_2741delinsG:p.Lys914fs	coding	Pathogenic
16	2076508	C	CCT	T2076513C	TSC2	NM_000548.5(TSC2):c.2761_2762CT[3]:p.Leu922fs	coding	Pathogenic
16	2079036	A	AT	A2079038T	TSC2	NM_000548.5(TSC2):c.2972dup:p.Gln992fs	coding	Pathogenic
16	2079061	G	GCT	T2079064C	TSC2	NM_000548.5(TSC2):c.2997_2998dup:p.Leu1000fs	coding	Pathogenic
16	2079096	GC	G	C2079097T	TSC2	NM_000548.5(TSC2):c.3032del:p.Ala1011fs	coding	Pathogenic
16	2079157	C	CTCGATACG	T2079168G	TSC2	NM_000548.5(TSC2):c.3095_3102dup:p.Phe1035fs	coding	Pathogenic
16	2079162	T	TA	C2079164A	TSC2	NM_000548.5(TSC2):c.3098dup:p.Tyr1033Ter	coding	Pathogenic
16	2079163	AC	A	C2079164G	TSC2	NM_000548.5(TSC2):c.3099del:p.Arg1032_Tyr1033insTer	coding	Pathogenic
16	2079326	T	TAACC	G2079327A	TSC2	NM_000548.5(TSC2):c.3182_3183insAACC:p.Val1062fs	coding	Pathogenic
16	2079330	TG	T	G2079333A	TSC2	NM_000548.5(TSC2):c.3189del:p.Asn1064fs	coding	Pathogenic
16	2079347	CTG	C	T2079350A	TSC2	NM_000548.5(TSC2):c.3204_3205TG[1]:p.Val1069fs	coding	Pathogenic
16	2079354	GAC	G	C2079356A	TSC2	NM_000548.5(TSC2):c.3212_3213del:p.Thr1071fs	coding	Pathogenic
16	2079356	CA	C	A2079358G	TSC2	NM_000548.5(TSC2):c.3214del:p.Ser1072fs	coding	Pathogenic
16	2079362	T	TGGGAACC	C2079374A	TSC2	NM_000548.5(TSC2):c.3223_3229dup:p.Thr1077fs	coding	Pathogenic
16	2079367	A	ACCGGGAC	T2079379G	TSC2	NM_000548.5(TSC2):c.3228_3234dup:p.Ser1079fs	coding	Pathogenic
16	2079397	T	CC	T2079397C	TSC2	NM_000548.5(TSC2):c.3253delinsCC:p.Ser1085fs	coding	Pathogenic
16	2079398	C	CG	A2079404G	TSC2	NM_000548.5(TSC2):c.3259dup:p.Glu1087fs	coding	Pathogenic
16	2079562	G	GC	G2079567C	TSC2	NM_000548.5(TSC2):c.3294dup:p.Gly1099fs	coding	Pathogenic
16	2079580	GAC	G	C2079582G	TSC2	NM_000548.5(TSC2):c.3310_3311del:p.Gln1104fs	coding	Pathogenic
16	2079633	TC	GACA	T2079633G	TSC2	NM_000548.5(TSC2):c.3361_3362delinsGACA:p.Ser1121fs	coding	Pathogenic
16	2080163	AG	A	G2080168C	TSC2	NM_000548.5(TSC2):c.3401del:p.Gly1134Alafs	noncoding	Pathogenic
16	2080168	GC	G	C2080170A	TSC2	NM_000548.5(TSC2):c.3403del:p.His1135fs	coding	Pathogenic
16	2080170	CA	C	A2080171T	TSC2	NM_000548.5(TSC2):c.3404del:p.His1135fs	coding	Pathogenic
16	2080188	GC	G	C2080191T	TSC2	NM_000548.5(TSC2):c.3424del:p.Leu1142fs	coding	Pathogenic
16	2080200	CCGGC	GCA	C2080200G	TSC2	NM_000548.5(TSC2):c.3433_3437delinsGCA:p.Pro1145fs	coding	Pathogenic
16	2080213	TC	T	C2080215T	TSC2	NM_000548.5(TSC2):c.3448del:p.Leu1150fs	coding	Pathogenic
16	2080213	T	TC	T2080216C	TSC2	NM_000548.5(TSC2):c.3448dup:p.Leu1150fs	coding	Pathogenic
16	2080216	TG	T	G2080219C	TSC2	NM_000548.5(TSC2):c.3452del:p.Gly1151fs	coding	Pathogenic
16	2080314	CT	TA	C2080314T	TSC2	NM_000548.5(TSC2):c.3547_3548delinsTA:p.Leu1183Ter	coding	Pathogenic
16	2080328	GC	G	C2080332T	TSC2	NM_000548.5(TSC2):c.3565del:p.Leu1189fs	coding	Pathogenic
16	2080418	T	TC	A2080420C	TSC2	NM_000548.5(TSC2):c.3610+42dup	noncoding	Benign
16	2081603	AGCTGG	A	G2081604C	TSC2	NM_000548.5(TSC2):c.3620_3624del:p.Ser1207fs	coding	Pathogenic
16	2081624	AACCCGCTCAGCCCTTTCTCCTCGGACATCAACAACATGCCCCTGCAGGAGCTGTCTAACGCCCTCATGGCGGCTGAGCGCTTCAAGGAGCACCGGGACACAGCCCTGTACAAGTCACTGTCGGTGCCGGCAGCCAGCACGGCCAAACCCCCTCCTCTGCCTCGCTCCAACACAGGTGAGTGGCATGGCGGGCCTTGGCACGG	A	A2081625G	TSC2	NM_000548.5(TSC2):c.3641_3814+28del	coding	Pathogenic
16	2081634	GC	G	C2081637T	TSC2	NM_000548.5(TSC2):c.3653del:p.Pro1218fs	coding	Pathogenic
16	2081652	TC	T	C2081653A	TSC2	NM_000548.5(TSC2):c.3669del:p.Asn1224fs	coding	Pathogenic
16	2081666	CT	C	T2081667G	TSC2	NM_000548.5(TSC2):c.3683del:p.Leu1228fs	coding	Pathogenic
16	2081674	GCTGT	G	G2081677A	TSC2	NM_000548.5(TSC2):c.3693_3696del:p.Ser1232fs	coding	Pathogenic
16	2081679	C	CT	A2081681T	TSC2	NM_000548.5(TSC2):c.3696dup:p.Asn1233Ter	coding	Pathogenic
16	2081680	T	TAG	A2081682G	TSC2	NM_000548.5(TSC2):c.3697_3698insGA:p.Asn1233fs	coding	Pathogenic
16	2081717	CG	C	G2081720A	TSC2	NM_000548.5(TSC2):c.3736del:p.Asp1246fs	coding	Pathogenic
16	2081721	A	AC	A2081723C	TSC2	NM_000548.5(TSC2):c.3738dup:p.Thr1247fs	coding	Pathogenic
16	2081722	CA	C	A2081723C	TSC2	NM_000548.5(TSC2):c.3739del:p.Thr1247fs	coding	Pathogenic
16	2081729	CTG	C	G2081731A	TSC2	NM_000548.5(TSC2):c.3747_3748del:p.Tyr1250fs	coding	Pathogenic/Likely_pathogenic
16	2081742	TG	T	G2081743T	TSC2	NM_000548.5(TSC2):c.3759del:p.Ser1254fs	coding	Pathogenic
16	2081760	GC	G	C2081761A	TSC2	NM_000548.5(TSC2):c.3777del:p.Ser1259fs	coding	Pathogenic
16	2081761	CACGGCCAA	C	G2081764C	TSC2	NM_000548.5(TSC2):c.3780_3787del:p.Ala1261fs	coding	Pathogenic
16	2081767	C	CA	C2081771A	TSC2	NM_000548.5(TSC2):c.3786dup:p.Pro1263fs	coding	Pathogenic
16	2081770	AC	A	C2081775T	TSC2	NM_000548.5(TSC2):c.3791del:p.Pro1264fs	coding	Pathogenic
16	2081780	C	CT	G2081782T	TSC2	NM_000548.5(TSC2):c.3797dup:p.Pro1267fs	coding	Pathogenic/Likely_pathogenic
16	2082459	CAGTCCAGCTGCCA	C	T2082462G	TSC2	NM_000548.5(TSC2):c.3841_3853del:p.Ser1281fs	coding	Pathogenic
16	2082511	CCT	C	T2082515A	TSC2	NM_000548.5(TSC2):c.3883+11_3883+12del	noncoding	Benign
16	2082516	CAG	C	A2082519G	TSC2	NM_000548.5(TSC2):c.3883+15_3883+16del	noncoding	Benign
16	2083749	AG	A	G2083750C	TSC2	NM_000548.5(TSC2):c.3939del:p.Glu1313fs	coding	Pathogenic
16	2084321	G	GT	G2084322T	TSC2	NM_000548.5(TSC2):c.4099_4100insT:p.Gly1367fs	coding	Pathogenic
16	2084323	T	TGGCC	C2084332G	TSC2	NM_000548.5(TSC2):c.4106_4109dup:p.Ser1371fs	coding	Pathogenic
16	2084325	GCCGGC	G	G2084328T	TSC2	NM_000548.5(TSC2):c.4106_4110del:p.Arg1369fs	coding	Pathogenic
16	2084334	CTG	C	T2084337G	TSC2	NM_000548.5(TSC2):c.4113_4114TG[1]:p.Val1372fs	coding	Pathogenic
16	2084355	C	CCTCGCAGCCCCTGAGCAAGTCCAGCT	C2084383T	TSC2	NM_000548.5(TSC2):c.4135_4160dup:p.Ser1388_Pro1389insArgSerProTer	coding	Pathogenic
16	2084355	CCT	C	T2084357G	TSC2	NM_000548.5(TSC2):c.4135_4136del:p.Ser1379fs	coding	Pathogenic
16	2084364	C	CCCTGAGCAAGTCCAGCT	C2084385G	TSC2	NM_000548.5(TSC2):c.4146_4162dup:p.Ser1388Ter	coding	Pathogenic
16	2084368	G	GAGCAAGTCCAGCTCCTC	T2084386A	TSC2	NM_000548.5(TSC2):c.4147_4163dup:p.Pro1389fs	coding	Pathogenic
16	2084370	G	GC	A2084372C	TSC2	NM_000548.5(TSC2):c.4149dup:p.Lys1384fs	coding	Pathogenic
16	2084399	ACT	A	C2084402G	TSC2	NM_000548.5(TSC2):c.4178_4179CT[1]:p.Leu1394fs	coding	Pathogenic
16	2084425	TG	T	G2084429A	TSC2	NM_000548.5(TSC2):c.4207del:p.Asp1403fs	coding	Pathogenic
16	2084440	CGT	C	T2084442G	TSC2	NM_000548.5(TSC2):c.4220_4221del:p.Val1407fs	coding	Pathogenic
16	2084442	TG	T	G2084445C	TSC2	NM_000548.5(TSC2):c.4223del:p.Gly1408fs	coding	Pathogenic
16	2084476	ACAGT	A	T2084480G	TSC2	NM_000548.5(TSC2):c.4258_4261del:p.Ser1420fs	coding	Pathogenic
16	2084494	C	CG	A2084499G	TSC2	NM_000548.5(TSC2):c.4276dup:p.Glu1426fs	coding	Pathogenic
16	2084507	G	GC	T2084510C	TSC2	NM_000548.5(TSC2):c.4287dup:p.Trp1430fs	coding	Pathogenic
16	2084534	CG	C	G2084538C	TSC2	NM_000548.5(TSC2):c.4316del:p.Gly1439fs	coding	Pathogenic
16	2084557	G	GCCTT	A2084564T	TSC2	NM_000548.5(TSC2):c.4338_4341dup:p.Ser1448fs	coding	Pathogenic
16	2084566	CT	C	T2084567C	TSC2	NM_000548.5(TSC2):c.4345del:p.Ser1449fs	coding	Pathogenic
16	2084566	CTC	TT	C2084566T	TSC2	NM_000548.5(TSC2):c.4344_4346delinsTT:p.Arg1451fs	coding	Pathogenic
16	2084567	TC	T	C2084573G	TSC2	NM_000548.5(TSC2):c.4351del:p.Arg1451fs	coding	Pathogenic
16	2084567	T	TC	G2084574C	TSC2	NM_000548.5(TSC2):c.4351dup:p.Arg1451fs	coding	Pathogenic
16	2084591	C	CG	C2084594G	TSC2	NM_000548.5(TSC2):c.4371dup:p.Pro1458fs	coding	Pathogenic
16	2084593	GC	G	C2084597G	TSC2	NM_000548.5(TSC2):c.4375del:p.Arg1459fs	coding	Pathogenic
16	2084618	TCGGC	T	G2084620C	TSC2	NM_000548.5(TSC2):c.4398_4401del:p.Ala1467fs	coding	Pathogenic
16	2084633	AG	A	G2084637C	TSC2	NM_000548.5(TSC2):c.4415del:p.Gly1472fs	coding	Pathogenic
16	2084639	AAG	A	A2084644T	TSC2	NM_000548.5(TSC2):c.4418_4419AG[2]:p.Arg1474fs	coding	Pathogenic
16	2084646	TAG	T	A2084651G	TSC2	NM_000548.5(TSC2):c.4425_4426AG[2]:p.Arg1477fs	coding	Pathogenic
16	2084659	CTTA	TTT	C2084659T	TSC2	NM_000548.5(TSC2):c.4437_4440delinsTTT:p.Lys1481fs	coding	Pathogenic
16	2084661	T	TA	G2084665A	TSC2	NM_000548.5(TSC2):c.4442dup:p.Ser1482fs	coding	Pathogenic
16	2084692	GA	G	A2084695G	TSC2	NM_000548.5(TSC2):c.4473del:p.Val1492fs	coding	Pathogenic
16	2084692	GA	TT	G2084692T	TSC2	NM_000548.5(TSC2):c.4470_4471delinsTT:p.Glu1490_Lys1491delinsAspTer	coding	Pathogenic
16	2084692	G	GA	G2084696A	TSC2	NM_000548.5(TSC2):c.4473dup:p.Val1492fs	coding	Pathogenic
16	2084949	AGTTTC	A	T2084952G	TSC2	NM_000548.4(TSC2):c.4495_4499delTTCGT:p.Phe1499Valfs	noncoding	Pathogenic
16	2084976	TC	T	C2084981T	TSC2	NM_000548.5(TSC2):c.4524del:p.Phe1509fs	coding	Pathogenic
16	2084993	CG	C	G2084994A	TSC2	NM_000548.5(TSC2):c.4537del:p.Glu1513fs	coding	Pathogenic
16	2084997	TCAAA	T	A2085001G	TSC2	NM_000548.5(TSC2):c.4544_4547del:p.Asn1515fs	coding	Pathogenic
16	2084998	CA	C	A2085001C	TSC2	NM_000548.5(TSC2):c.4544del:p.Asn1515fs	coding	Pathogenic
16	2085001	ACAAG	A	A2085003C	TSC2	NM_000548.5(TSC2):c.4546_4549del:p.Lys1516fs	coding	Pathogenic
16	2085230	TCA	T	C2085233G	TSC2	NM_000548.5(TSC2):c.4571_4572CA[1]:p.Gln1525fs	coding	Pathogenic
16	2085231	C	CA	C2085233A	TSC2	NM_000548.5(TSC2):c.4572dup:p.Gln1525fs	coding	Pathogenic
16	2085238	C	CT	G2085242T	TSC2	NM_000548.5(TSC2):c.4581dup:p.Glu1528Ter	coding	Pathogenic
16	2085300	TC	T	C2085302T	TSC2	NM_000548.5(TSC2):c.4642del:p.Leu1548fs	coding	Pathogenic
16	2085312	GAGA	G	A2085315G	TSC2	NM_000548.5(TSC2):c.4655_4657del:p.Glu1552del	coding	Pathogenic
16	2085320	CAGGTG	C	T2085324C	TSC2	NM_000548.5(TSC2):c.4662+2_4662+6del	coding	Pathogenic
16	2086154	C	CGGGAGTGATGCCACCCTGCCT	C2086176G	TSC2	NM_000548.5(TSC2):c.4663-38_4663-18dup	noncoding	Benign
16	2086173	CCT	C	T2086177C	TSC2	NM_000548.5(TSC2):c.4663-16_4663-15del	noncoding	Benign/Likely_benign
16	2086257	CG	C	G2086260C	TSC2	NM_000548.5(TSC2):c.4730del:p.Gly1577fs	coding	Pathogenic
16	2086263	T	TG	C2086267G	TSC2	NM_000548.5(TSC2):c.4736dup:p.Arg1580fs	coding	Pathogenic
16	2086282	GAAGGACTGCCA	G	A2086283G	TSC2	NM_000548.5(TSC2):c.4753_4763del:p.Lys1585fs	coding	Pathogenic
16	2086324	C	CGTGTGTG	A2086335T	TSC2	NM_000548.5(TSC2):c.4798_4804dup:p.Glu1602delinsValTrpTer	coding	Pathogenic
16	2086324	CGT	C	T2086330G	TSC2	NM_000548.5(TSC2):c.4796_4797TG[2]:p.Cys1600fs	coding	Pathogenic
16	2086332	G	GT	G2086334T	TSC2	NM_000548.5(TSC2):c.4803dup:p.Glu1602Ter	coding	Pathogenic
16	2086339	CG	C	G2086341C	TSC2	NM_000548.5(TSC2):c.4811del:p.Gly1604fs	coding	Pathogenic
16	2086357	CTGGCACGA	C	G2086360A	TSC2	NM_000548.5(TSC2):c.4830_4837del:p.Trp1610_Asp1613delinsTer	coding	Pathogenic
16	2086368	ACAT	A	C2086372G	TSC2	NM_000548.5(TSC2):c.4839_4841CAT[1]:p.Ile1614del	coding	Pathogenic/Likely_pathogenic
16	2086475	CA	C	A2086476C	TSC2	NM_000548.5(TSC2):c.4849+97del	noncoding	Benign
16	2086750	C	CCAAGGCATCGT	C2086752A	TSC2	NM_000548.5(TSC2):c.4869_4870insAAGGCATCGTC:p.Leu1624fs	coding	Pathogenic
16	2086757	GCCCA	G	C2086760A	TSC2	NM_000548.5(TSC2):c.4878_4881del:p.Thr1627fs	coding	Pathogenic
16	2086761	AC	A	C2086763A	TSC2	NM_000548.5(TSC2):c.4881del:p.Lys1628fs	coding	Pathogenic
16	2086790	CAAG	C	A2086794C	TSC2	NM_000548.5(TSC2):c.4909_4911AAG[1]:p.Lys1638del	coding	Pathogenic/Likely_pathogenic
16	2086804	TG	T	G2086807C	TSC2	NM_000548.5(TSC2):c.4925del:p.Gly1642fs	coding	Pathogenic
16	2086814	C	CT	G2086818T	TSC2	NM_000548.5(TSC2):c.4935dup:p.Val1646fs	coding	Pathogenic
16	2086814	CTT	C	T2086816G	TSC2	NM_000548.5(TSC2):c.4934_4935del:p.Phe1645fs	coding	Pathogenic
16	2086832	CAATGACT	C	A2086833C	TSC2	NM_000548.5(TSC2):c.4951_4957del:p.Asn1651fs	coding	Pathogenic
16	2086832	CA	C	A2086834T	TSC2	NM_000548.5(TSC2):c.4952del:p.Asn1651fs	coding	Pathogenic
16	2087889	CG	C	G2087890T	TSC2	NM_000548.5(TSC2):c.5017del:p.Val1673fs	coding	Pathogenic
16	2087890	G	GTCACCCCGCTGGACTACGAGTGCAA	C2087916T	TSC2	NM_000548.5(TSC2):c.5018_5042dup:p.Leu1682fs	coding	Pathogenic
16	2087898	G	GCTGGA	A2087906G	TSC2	NM_000548.5(TSC2):c.5028_5032dup:p.Tyr1678fs	coding	Pathogenic
16	2087923	TCCCTGCAGTGCAGGAAAGGTAGGGCCGGGTGGGG	T	C2087968T	TSC2	NM_000548.5(TSC2):c.5068+27_5069-47del	coding	Benign/Likely_benign
16	2087937	GA	TT	G2087937T	TSC2	NM_000548.5(TSC2):c.5064_5065delinsTT:p.Arg1688_Lys1689delinsSerTer	coding	Pathogenic
16	2088051	T	TG	A2088054G	TSC2	NM_000548.5(TSC2):c.5074dup:p.Glu1692fs	coding	Pathogenic
16	2088054	AG	A	G2088057C	TSC2	NM_000548.5(TSC2):c.5078del:p.Gly1693fs	coding	Pathogenic
16	2088060	T	TA	T2088061A	TSC2	NM_000548.5(TSC2):c.5081_5082insA:p.Val1695fs	coding	Pathogenic
16	2088090	C	CT	G2088092T	TSC2	NM_000548.5(TSC2):c.5112dup:p.Asp1705Ter	coding	Pathogenic
16	2088138	ATG	A	T2088141A	TSC2	NM_000548.5(TSC2):c.5160+2_5160+3del	coding	Pathogenic
16	2088226	GA	G	A2088227T	TSC2	NM_000548.5(TSC2):c.5161del:p.Met1721fs	coding	Pathogenic
16	2088234	C	CA	C2088236A	TSC2	NM_000548.5(TSC2):c.5169dup:p.Gln1724fs	coding	Pathogenic
16	2088268	T	TA	T2088270A	TSC2	NM_000548.5(TSC2):c.5203dup:p.Ile1735fs	coding	Pathogenic
16	2088277	CT	C	T2088278C	TSC2	NM_000548.5(TSC2):c.5212del:p.Ser1738fs	coding	Pathogenic/Likely_pathogenic
16	2088278	TC	T	C2088280A	TSC2	NM_000548.5(TSC2):c.5214del:p.Lys1739fs	coding	Pathogenic
16	2088292	CCGGCTCCGCCACATCAAG	C	C2088304G	TSC2	NM_000548.5(TSC2):c.5238_5255del:p.His1746_Arg1751del	coding	Pathogenic/Likely_pathogenic
16	2088298	CCGCCACAT	C	G2088300A	TSC2	NM_000548.5(TSC2):c.5234_5241del:p.Arg1745fs	coding	Pathogenic
16	2088311	CGGCTCCGCCAGCGGGTAGGGAATATGG	C	G2088318C	TSC2	NM_000548.5(TSC2):c.5252_5259+19del	coding	Pathogenic
16	2088323	CG	C	G2088326T	TSC2	NM_000548.5(TSC2):c.5259+1del	coding	Pathogenic/Likely_pathogenic
16	2088447	TC	T	C2088448T	TSC2	NM_000548.5(TSC2):c.5262del:p.Cys1755fs	coding	Pathogenic
16	2088451	CG	C	G2088452A	TSC2	NM_000548.5(TSC2):c.5266del:p.Glu1756fs	coding	Pathogenic
16	2088460	CGCCTACTCCAACCCCA	C	T2088467C	TSC2	NM_000548.5(TSC2):c.5281_5296del:p.Ser1761fs	coding	Pathogenic
16	2088471	AC	A	C2088475A	TSC2	NM_000548.5(TSC2):c.5289del:p.Ser1764fs	coding	Pathogenic
16	2088574	C	CATCT	C2088579A	TSC2	NM_000548.5(TSC2):c.5389_5392dup:p.Ser1798fs	coding	Pathogenic
16	2088578	TCCTCGGTGGAGGACTTCACCGAGTTTGTGTGAGGCCGGGGCCCTCCCTCCTGCACTGGCCTTGGACGGTATTGCCTGTCAGTGAAATAA	T	C2088579A	TSC2	NM_000548.5(TSC2):c.5393_*57del:p.Ser1798fs	coding	Pathogenic
16	2088586	GGA	G	A2088588G	TSC2	NM_000548.5(TSC2):c.5402_5403del:p.Glu1801fs	coding	Pathogenic
16	2090005	GC	G	C2090006T	PKD1	NM_001009944.3(PKD1):c.12633del:p.Glu4211fs	coding	Pathogenic
16	2090007	TCAGGCTCACACCTTGTCCCCAGCCGGCC	T	A2090017G	PKD1	NM_001009944.3(PKD1):c.12604_12631del:p.Gly4202fs	coding	Pathogenic
16	2090124	GA	G	A2090125T	PKD1	NM_001009944.3(PKD1):c.12514del:p.Ser4172fs	coding	Pathogenic
16	2090139	CT	C	T2090140G	PKD1	NM_001009944.3(PKD1):c.12499del:p.Arg4167fs	coding	Pathogenic
16	2090148	CG	C	G2090149A	PKD1	NM_001009944.3(PKD1):c.12490del:p.Arg4164fs	coding	Pathogenic
16	2090261	T	TC	A2090269C	PKD1	NM_001009944.3(PKD1):c.12444+17dup	coding	Benign
16	2090325	C	CG	C2090327G	PKD1	NM_001009944.3(PKD1):c.12403dup:p.Arg4135fs	coding	Pathogenic
16	2090380	GC	G	C2090381T	PKD1	NM_001009944.3(PKD1):c.12348del:p.Glu4116fs	coding	Pathogenic
16	2090392	AG	A	G2090394C	PKD1	NM_001009944.3(PKD1):c.12336del:p.Leu4113fs	coding	Pathogenic
16	2090415	A	ATAAC	A2090420T	PKD1	NM_001009944.3(PKD1):c.12310_12313dup:p.Ile4105fs	coding	Pathogenic
16	2090417	AAC	A	C2090419G	PKD1	NM_001009944.3(PKD1):c.12310_12311del:p.Val4104fs	coding	Pathogenic
16	2090421	GC	G	C2090426A	PKD1	NM_001009944.3(PKD1):c.12307del:p.Ala4103fs	coding	Pathogenic
16	2090449	GCA	G	C2090450G	PKD1	NM_001009944.3(PKD1):c.12278_12279del:p.Leu4093fs	coding	Pathogenic
16	2090507	CAGGGT	C	G2090510A	PKD1	NM_001009944.3(PKD1):c.12217_12221del:p.Thr4073fs	coding	Pathogenic
16	2090651	TC	T	C2090655G	PKD1	NM_001009944.3(PKD1):c.12138+22del	noncoding	Benign
16	2090772	C	CGT	G2090774T	PKD1	NM_001009944.3(PKD1):c.12039_12040insAC:p.Val4014fs	coding	Pathogenic
16	2090799	G	GCTGGGCAGCCTGCGGA	G2090817T	PKD1	NM_001009944.3(PKD1):c.12004-7_12012dup	coding	Pathogenic
16	2090902	G	GA	G2090904A	PKD1	NM_001009944.3(PKD1):c.11984dup:p.Phe3996fs	coding	Pathogenic
16	2090962	AGTGAAGCGGCGCGGGCGGCCGCGCA	TCACTAGCTT	A2090962T	PKD1	NM_001009944.3(PKD1):c.11900_11925delinsAAGCTAGTGA:p.Val3967fs	coding	Pathogenic
16	2090974	CG	C	G2090977C	PKD1	NM_001009944.3(PKD1):c.11912del:p.Pro3971fs	coding	Pathogenic
16	2091076	CGCCCAGGCTCCGA	C	C2091080G	PKD1	NM_001009944.3(PKD1):c.11798_11810del:p.Leu3933fs	coding	Pathogenic
16	2091472	AAGGGGCGGACGCTG	A	G2091477C	PKD1;LOC105371049	NM_001009944.3(PKD1):c.11649_11662del:p.Ser3884fs	coding	Pathogenic
16	2091570	CGT	C	T2091572A	PKD1	NM_001009944.3(PKD1):c.11563_11564del:p.Thr3855fs	coding	Pathogenic
16	2091580	AG	A	G2091582A	PKD1	NM_001009944.3(PKD1):c.11554del:p.Leu3852fs	coding	Pathogenic
16	2091598	CT	C	T2091599G	PKD1	NM_001009944.3(PKD1):c.11538-2del	noncoding	Pathogenic
16	2091775	T	TCCC	A2091779C	PKD1	NM_001009944.3(PKD1):c.11537+3_11537+5dup	noncoding	Benign/Likely_benign
16	2091863	AG	A	G2091864C	PKD1	NM_001009944.3(PKD1):c.11454del:p.Tyr3819fs	coding	Pathogenic
16	2091864	G	GC	G2091870C	PKD1	NM_001009944.3(PKD1):c.11453dup:p.Tyr3819fs	coding	Pathogenic
16	2092045	A	ACC	A2092050C	PKD1	NC_000016.10:g.2092048_2092049dup	noncoding	Pathogenic
16	2092062	G	GCTGAATAGGCCCACGTCCC	G2092083T	PKD1	NM_001009944.3(PKD1):c.11377_11395dup:p.Ala3799fs	coding	Pathogenic
16	2092078	TC	T	C2092082G	PKD1;LOC105371049	NM_001009944.3(PKD1):c.11379del:p.Thr3794fs	coding	Pathogenic
16	2092113	T	TCGTAATC	G2092121C	PKD1	NM_001009944.3(PKD1):c.11338_11344dup:p.Asp3782fs	coding	Pathogenic
16	2092143	GC	G	C2092145G	PKD1	NM_001009944.3(PKD1):c.11314del:p.Ala3772fs	coding	Pathogenic
16	2092145	C	CGA	C2092149A	PKD1	NM_001009944.3(PKD1):c.11311_11312dup:p.Ala3772fs	coding	Pathogenic
16	2092182	TAG	T	A2092185T	PKD1	NM_001009944.3(PKD1):c.11272_11273CT[1]:p.Tyr3759fs	coding	Pathogenic
16	2092485	TGCAGCCGCACCTGCC	T	C2092493T	PKD1	NM_001009944.3(PKD1):c.11249_11263del:p.Arg3750_Leu3754del	coding	Pathogenic
16	2092542	TGGACGTA	T	A2092545G	PKD1	NM_001009944.3(PKD1):c.11200_11206del:p.Tyr3734fs	coding	Pathogenic
16	2092972	G	GC	G2092976C	PKD1	NM_001009944.3(PKD1):c.11137dup:p.Ala3713fs	coding	Pathogenic
16	2093006	GC	AG	G2093006A	PKD1;LOC105371049	NM_001009944.3(PKD1):c.11103_11104delinsCT:p.Gln3702Ter	coding	Pathogenic
16	2093032	GAGGCATCCCCATAGCTGGCC	G	G2093035C	PKD1	NM_001009944.3(PKD1):c.11058_11077del:p.Ala3687fs	coding	Pathogenic
16	2093038	T	TC	A2093043C	PKD1	NM_001009944.3(PKD1):c.11071dup:p.Asp3691fs	coding	Pathogenic
16	2093076	CA	C	A2093077T	PKD1	NM_001009944.3(PKD1):c.11033del:p.Met3678fs	coding	Pathogenic
16	2093886	C	CG	A2093893G	PKD1	NM_001009944.3(PKD1):c.10745dup:p.Val3584fs	coding	Pathogenic
16	2093916	GACAGCC	G	A2093931C	PKD1	NM_001009944.3(PKD1):c.10698_10703GGCTGT[2]:p.3567_3568AV[2]	coding	Pathogenic/Likely_pathogenic
16	2093972	AC	A	C2093974A	PKD1	NM_001009944.3(PKD1):c.10659del:p.Trp3553fs	coding	Pathogenic
16	2094124	TCCCAGTTCAGGCCTGGGCTGGGTGGCCCCAGCTC	T	A2094128C	PKD1	NM_001009944.3(PKD1):c.10552_10585del:p.Glu3518fs	coding	Pathogenic
16	2094149	G	GC	A2094154C	PKD1	NM_001009944.3(PKD1):c.10560dup:p.Pro3521fs	coding	Pathogenic
16	2097159	CA	C	A2097160G	PKD1	NM_001009944.3(PKD1):c.10487del:p.Leu3496fs	coding	Pathogenic
16	2097205	AC	A	C2097210T	PKD1	NM_001009944.3(PKD1):c.10441del:p.Val3481fs	coding	Pathogenic/Likely_pathogenic
16	2097228	GAT	A	G2097228A	PKD1	NM_001009944.3(PKD1):c.10417_10419delinsT:p.Ile3473fs	coding	Pathogenic
16	2097404	GC	G	C2097408G	PKD1	NM_001009944.3(PKD1):c.10319del:p.Gly3440fs	coding	Pathogenic
16	2097490	GC	G	C2097492A	PKD1	NM_001009944.3(PKD1):c.10233del:p.Trp3411fs	coding	Pathogenic
16	2097582	AC	A	C2097585T	PKD1	NM_001009944.3(PKD1):c.10221-80del	noncoding	Benign
16	2097724	CCA	C	A2097726C	PKD1	NM_001009944.3(PKD1):c.10220+2_10220+3del	noncoding	Pathogenic
16	2097824	GCAGGACCCCCAGCCCAGCC	G	C2097837T	PKD1	NM_001009944.3(PKD1):c.10167+25_10167+43del	noncoding	Pathogenic
16	2097871	AG	A	G2097872C	PKD1	NM_001009944.3(PKD1):c.10163del:p.Ala3388fs	coding	Pathogenic
16	2097942	G	GC	A2097944C	PKD1	NM_001009944.3(PKD1):c.10092dup:p.Leu3365fs	coding	Pathogenic
16	2099667	G	GA	G2099673A	PKD1	NM_001009944.3(PKD1):c.10026dup:p.Leu3343fs	coding	Pathogenic
16	2099699	AC	A	C2099701A	PKD1	NM_001009944.3(PKD1):c.9994del:p.Val3332fs	coding	Pathogenic
16	2099868	CAG	C	A2099871T	PKD1	NM_001009944.3(PKD1):c.9912_9913CT[1]:p.Ser3305fs	coding	Pathogenic
16	2099898	CG	C	G2099899T	PKD1	NM_001009944.3(PKD1):c.9885del:p.Asn3295fs	coding	Pathogenic
16	2099959	G	GA	C2099963A	PKD1	NM_001009944.3(PKD1):c.9824dup:p.Thr3276fs	coding	Pathogenic
16	2100047	CG	C	G2100049A	PKD1	NM_001009944.3(PKD1):c.9736del:p.Arg3246fs	coding	Pathogenic
16	2100203	GGCCTCCGTCTCCACCGAAA	G	T2100207A	PKD1	NM_001009944.3(PKD1):c.9656_9674del:p.Leu3219fs	coding	Pathogenic
16	2100397	TTTG	T	T2100402C	PKD1	NM_001009944.3(PKD1):c.9561_9563CAA[1]:p.Asn3188del	coding	Pathogenic/Likely_pathogenic
16	2100551	A	AC	G2100553C	PKD1	NM_001009944.3(PKD1):c.9412dup:p.Val3138fs	coding	Pathogenic
16	2102216	CAT	C	A2102217G	PKD1	NM_001009944.3(PKD1):c.9240_9241del:p.Ala3082fs	coding	Pathogenic
16	2102239	TACATCCGCTGTCGGCTCCTGTGAGGAC	T	T2102243G	PKD1	NM_001009944.3(PKD1):c.9202-10_9218del	coding	Pathogenic
16	2102386	AC	GG	A2102386G	PKD1	NM_001009944.3(PKD1):c.9195_9196delinsCC:p.Phe3066Leu	coding	Benign
16	2102506	GCC	T	G2102506T	PKD1	NM_001009944.3(PKD1):c.9074_9076delinsA:p.Trp3025_Arg3026delinsTer	coding	Pathogenic
16	2102534	CT	C	T2102535G	PKD1	NM_001009944.3(PKD1):c.9047del:p.Gln3016fs	coding	Pathogenic
16	2102583	C	CG	A2102586G	PKD1	NM_001009944.3(PKD1):c.8998dup:p.Arg3000fs	coding	Pathogenic
16	2102609	G	GT	A2102611T	PKD1	NM_001009944.3(PKD1):c.8972dup:p.Tyr2991Ter	coding	Pathogenic
16	2102850	G	GCACCCTGGAGTGAC	T2102865C	PKD1	NM_001009944.3(PKD1):c.8898_8911dup:p.Ala2971fs	coding	Pathogenic
16	2103298	AGCCCG	A	C2103302G	PKD1	NM_001009944.3(PKD1):c.8754_8758del:p.Gly2919fs	coding	Pathogenic
16	2103511	GC	G	C2103513A	PKD1	NM_001009944.3(PKD1):c.8545del:p.Ala2849fs	coding	Pathogenic/Likely_pathogenic
16	2103597	ACT	A	C2103598G	PKD1	NM_001009944.3(PKD1):c.8458_8459del:p.Leu2819_Ser2820insTer	coding	Pathogenic
16	2103629	CG	C	G2103633A	PKD1	NM_001009944.3(PKD1):c.8427del:p.Glu2810fs	coding	Pathogenic
16	2103687	CG	C	G2103690T	PKD1	NM_001009944.3(PKD1):c.8369del:p.Pro2790fs	coding	Pathogenic
16	2103723	GC	G	C2103726G	PKD1	NM_001009944.3(PKD1):c.8333del:p.Gly2778fs	coding	Pathogenic
16	2103814	ACCAT	A	A2103817G	PKD1	NM_001009944.3(PKD1):c.8239_8242del:p.Met2747fs	coding	Pathogenic
16	2103822	A	AGATGGTGACG	T2103832G	PKD1	NM_001009944.3(PKD1):c.8234_8235insCGTCACCATC:p.Arg2746fs	coding	Pathogenic
16	2104639	G	GC	T2104644C	PKD1	NM_001009944.3(PKD1):c.8017-1dup	coding	Pathogenic
16	2104642	CCT	C	C2104643G	PKD1	NM_001009944.3(PKD1):c.8017-2_8017-1del	coding	Pathogenic
16	2105411	GTA	G	A2105413C	PKD1	NM_001009944.3(PKD1):c.7925_7926del:p.Ile2642fs	coding	Pathogenic
16	2105909	G	GC	T2105911C	PKD1	NM_001009944.3(PKD1):c.7818dup:p.His2607fs	coding	Pathogenic
16	2105942	G	GCA	T2105948A	PKD1	NM_001009944.3(PKD1):c.7782_7783TG[3]:p.Leu2596fs	coding	Pathogenic
16	2105973	TGTGA	T	T2105975C	PKD1	NM_001009944.3(PKD1):c.7751_7754del:p.Leu2584fs	coding	Pathogenic
16	2106015	GGCCAAAGACCT	G	G2106016A	PKD1	NM_001009944.3(PKD1):c.7704-2_7712del	coding	Pathogenic
16	2106171	CG	C	G2106176C	PKD1	NM_001009944.3(PKD1):c.7622del:p.Pro2541fs	coding	Pathogenic
16	2106298	TG	T	G2106299C	PKD1	NM_001009944.3(PKD1):c.7495del:p.His2499fs	coding	Pathogenic
16	2106839	CG	C	G2106841C	PKD1	NM_001009944.3(PKD1):c.7174del:p.Arg2392fs	coding	Pathogenic
16	2106868	GCTCACTT	G	T2106870G	PKD1	NM_001009944.3(PKD1):c.7139_7145del:p.Glu2380fs	coding	Pathogenic
16	2106899	GAC	G	A2106906T	PKD1	NM_001009944.3(PKD1):c.7107_7108GT[3]:p.Ser2372fs	coding	Pathogenic
16	2106902	AC	A	C2106903A	PKD1	NM_001009944.3(PKD1):c.7111del:p.Val2371fs	coding	Pathogenic
16	2107902	TC	T	C2107904T	PKD1	NM_001009944.3(PKD1):c.7045del:p.Glu2349fs	coding	Pathogenic
16	2107947	A	ACGCCAGC	T2107965C	PKD1	NM_001009944.3(PKD1):c.6987_6993GCTGGCG[3]:p.Val2334fs	coding	Pathogenic
16	2107947	ACGCCAGC	A	C2107958T	PKD1	NM_001009944.3(PKD1):c.6994_7000del:p.Ala2332fs	coding	Pathogenic
16	2108252	CTG	C	G2108256C	PKD1	NM_001009944.3(PKD1):c.6911_6912CA[1]:p.Gln2305fs	coding	Pathogenic
16	2108438	CTG	C	G2108442C	PKD1	NM_001009944.3(PKD1):c.6725_6726CA[1]:p.Gln2243fs	coding	Pathogenic
16	2108577	CGCTGGCA	C	A2108584G	PKD1	NM_001009944.3(PKD1):c.6583_6589del:p.Cys2195fs	coding	Pathogenic
16	2108598	T	TAC	C2108603A	PKD1	NM_001009944.3(PKD1):c.6565_6566GT[3]:p.Tyr2190fs	coding	Pathogenic
16	2108617	C	CA	G2108619A	PKD1	NM_001009944.3(PKD1):c.6549dup:p.Glu2184Ter	coding	Pathogenic
16	2108683	G	GC	A2108685C	PKD1	NM_001009944.3(PKD1):c.6483dup:p.Arg2162fs	coding	Pathogenic
16	2108699	GGGCAGGACCACGTCCACCTCCGGCTCCC	G	A2108706C	PKD1	NM_001009944.3(PKD1):c.6440_6467del:p.Arg2147fs	coding	Pathogenic
16	2108742	TG	T	G2108744A	PKD1	NM_001009944.3(PKD1):c.6424del:p.Gln2142fs	coding	Pathogenic
16	2108768	G	GA	G2108771A	PKD1	NM_001009944.3(PKD1):c.6398dup:p.Val2134fs	coding	Pathogenic
16	2108973	GC	G	C2108975A	PKD1	NM_001009944.3(PKD1):c.6193del:p.Ala2065fs	coding	Pathogenic
16	2109029	CA	C	A2109030G	PKD1	NM_001009944.3(PKD1):c.6137del:p.Leu2046fs	coding	Pathogenic
16	2109245	CA	C	A2109246G	PKD1	NM_001009944.3(PKD1):c.5921del:p.Leu1974fs	coding	Pathogenic
16	2109265	GCAC	G	C2109269G	PKD1	NM_001009944.3(PKD1):c.5896_5898GTG[1]:p.Val1967del	coding	Pathogenic
16	2109279	AC	A	C2109281T	PKD1	NM_001009944.3(PKD1):c.5887del:p.Val1963fs	coding	Pathogenic
16	2109342	CG	C	G2109347A	PKD1	NM_001009944.3(PKD1):c.5824del:p.Arg1942fs	coding	Pathogenic
16	2109357	GA	G	A2109358G	PKD1	NM_001009944.3(PKD1):c.5809del:p.Ser1937fs	coding	Pathogenic
16	2109613	CAT	C	A2109614G	PKD1	NM_001009944.3(PKD1):c.5552_5553del:p.His1851fs	coding	Pathogenic
16	2109685	G	GC	A2109691C	PKD1	NM_001009944.3(PKD1):c.5481dup:p.Gln1828fs	coding	Pathogenic
16	2110024	CG	C	G2110025A	PKD1	NM_001009944.3(PKD1):c.5142del:p.Phe1714fs	coding	Pathogenic
16	2110025	GA	G	A2110027G	PKD1	NM_001009944.3(PKD1):c.5141del:p.Phe1714fs	coding	Pathogenic
16	2110145	CG	C	G2110148C	PKD1	NM_001009944.3(PKD1):c.5021del:p.Pro1674fs	coding	Pathogenic
16	2110148	GC	G	C2110152T	PKD1	NM_001009944.3(PKD1):c.5018del:p.Gly1673fs	coding	Pathogenic
16	2110151	CCT	C	C2110152G	PKD1	NM_001009944.3(PKD1):c.5014_5015del:p.Arg1672fs	coding	Pathogenic
16	2110330	C	CCGTGA	A2110338T	PKD1	NM_001009944.3(PKD1):c.4832_4836dup:p.Ala1613fs	coding	Pathogenic
16	2110370	G	GT	A2110372T	PKD1	NM_001009944.3(PKD1):c.4796dup:p.Tyr1599Ter	coding	Pathogenic
16	2110384	GA	G	A2110385C	PKD1	NM_001009944.3(PKD1):c.4782del:p.Pro1595fs	coding	Pathogenic
16	2110457	CG	C	G2110458T	PKD1	NM_001009944.3(PKD1):c.4709del:p.Thr1570fs	coding	Pathogenic
16	2110512	AC	A	C2110513G	PKD1	NM_001009944.3(PKD1):c.4654del:p.Val1552fs	coding	Pathogenic
16	2110705	AG	A	G2110706A	PKD1	NM_001009944.3(PKD1):c.4461del:p.Ser1488fs	coding	Pathogenic
16	2110714	AC	A	C2110715G	PKD1	NM_001009944.3(PKD1):c.4452del:p.Tyr1485fs	coding	Pathogenic
16	2110923	TC	T	C2110926A	PKD1	NM_001009944.3(PKD1):c.4243del:p.Asp1415fs	coding	Pathogenic
16	2110934	G	GCGGTAGGGGAA	G2110949T	PKD1	NM_001009944.3(PKD1):c.4222_4232dup:p.Tyr1412fs	coding	Pathogenic
16	2110946	C	CGGGG	C2110952G	PKD1	NM_001009944.3(PKD1):c.4217_4220dup:p.Phe1408fs	coding	Pathogenic
16	2111096	CA	C	A2111097G	PKD1	NM_001009944.3(PKD1):c.4070del:p.Leu1357fs	coding	Pathogenic
16	2111234	CG	C	G2111235C	PKD1	NM_001009944.3(PKD1):c.3932del:p.Ala1311fs	coding	Pathogenic
16	2111316	GC	G	C2111318A	PKD1	NM_001009944.3(PKD1):c.3850del:p.Ala1284fs	coding	Pathogenic
16	2111420	GT	G	T2111421C	PKD1	NM_001009944.3(PKD1):c.3746del:p.Asp1249fs	coding	Pathogenic
16	2111421	TC	T	C2111426A	PKD1	NM_001009944.3(PKD1):c.3745del:p.Asp1249fs	coding	Pathogenic
16	2111482	CG	C	G2111487C	PKD1	NM_001009944.3(PKD1):c.3684del:p.Val1229fs	coding	Pathogenic
16	2111546	GCGCACATCCGCCTGGGCCGC	G	A2111552C	PKD1	NM_001009944.3(PKD1):c.3601_3620del:p.Ala1201fs	coding	Pathogenic
16	2111663	A	AG	A2111668G	PKD1	NM_001009944.3(PKD1):c.3503dup:p.Val1169fs	coding	Pathogenic
16	2112381	ACCTGGGC	A	C2112383A	PKD1	NM_001009944.3(PKD1):c.3247_3253del:p.Ala1083fs	coding	Pathogenic
16	2112399	TCTGGAACCGGGAAGGACTCGTTGTACGGAGG	T	C2112407T	PKD1	NM_001009944.3(PKD1):c.3205_3235del:p.Pro1069fs	coding	Pathogenic
16	2112820	CA	C	A2112821C	PKD1	NM_001009944.3(PKD1):c.3128del:p.Val1043fs	coding	Pathogenic
16	2112878	A	GGG	A2112878G	PKD1	NM_001009944.3(PKD1):c.3071delinsCCC:p.Val1024fs	coding	Pathogenic
16	2113179	C	CGG	C2113181G	PKD1	NM_001009944.3(PKD1):c.2966_2967insCC:p.Ala990fs	coding	Pathogenic
16	2113278	C	CA	C2113280A	PKD1	NM_001009944.3(PKD1):c.2867dup:p.Val957fs	coding	Pathogenic
16	2114191	ACGGG	A	G2114193C	PKD1	NM_001009944.3(PKD1):c.2828_2831del:p.Ala943fs	coding	Pathogenic
16	2114241	C	CCT	G2114243T	PKD1	NM_001009944.3(PKD1):c.2781_2782insAG:p.Ala928fs	coding	Pathogenic
16	2114344	CAG	C	A2114345G	PKD1	NM_001009944.3(PKD1):c.2677_2678del:p.Leu893fs	coding	Pathogenic
16	2114391	C	CCAGGG	A2114405G	PKD1	NM_001009944.3(PKD1):c.2622_2626CCCTG[3]:p.Val878fs	coding	Pathogenic
16	2114528	C	CG	C2114535G	PKD1	NM_001009944.3(PKD1):c.2494dup:p.Arg832fs	coding	Pathogenic
16	2114601	TGGACACGCCATTGCCCACCTCTGCCC	T	A2114606C	PKD1	NM_001009944.3(PKD1):c.2396_2421del:p.Arg799fs	coding	Pathogenic
16	2114640	GCCCAGGC	G	C2114641A	PKD1	NM_001009944.3(PKD1):c.2376_2382del:p.Pro793fs	coding	Pathogenic
16	2114714	C	CG	C2114716G	PKD1	NM_001009944.3(PKD1):c.2308dup:p.Arg770fs	coding	Pathogenic
16	2114714	CGCAGGGCACAG	C	C2114723G	PKD1	NM_001009944.3(PKD1):c.2298_2308del:p.Cys767fs	coding	Pathogenic
16	2114920	G	GGT	A2114924T	PKD1	NM_001009944.3(PKD1):c.2101_2102dup:p.Leu702fs	coding	Pathogenic
16	2115389	C	CG	C2115396G	PKD1	NM_001009944.3(PKD1):c.2085dup:p.Ala696fs	coding	Pathogenic
16	2115389	CG	C	G2115395C	PKD1	NM_001009944.3(PKD1):c.2085del:p.Ala696fs	coding	Pathogenic
16	2115395	G	GC	G2115400C	PKD1	NM_001009944.3(PKD1):c.2079dup:p.Pro694fs	coding	Pathogenic
16	2115442	GC	G	C2115446G	PKD1	NM_001009944.3(PKD1):c.2032del:p.Ala678fs	coding	Pathogenic
16	2115487	TG	T	G2115492T	PKD1	NM_001009944.3(PKD1):c.1987del:p.Gln663fs	coding	Pathogenic
16	2115543	TCC	CA	T2115543C	PKD1	NM_001009944.3(PKD1):c.1930_1932delinsTG:p.Gly644fs	coding	Pathogenic
16	2115543	TC	T	C2115548T	PKD1	NM_001009944.3(PKD1):c.1931del:p.Gly644fs	coding	Pathogenic
16	2115957	GCCCACCACCCACCA	G	C2115969G	PKD1	NM_001009944.3(PKD1):c.1849+21_1849+34del	noncoding	Benign
16	2115957	GCCCACCA	G	C2115976G	PKD1	NM_001009944.3(PKD1):c.1849+14TGGTGGG[2]	noncoding	Benign
16	2116068	CG	C	G2116069T	PKD1	NM_001009944.3(PKD1):c.1772del:p.Thr591fs	coding	Pathogenic
16	2116947	C	CG	C2116951G	PKD1	NM_001009944.3(PKD1):c.1491dup:p.Gly498fs	coding	Pathogenic
16	2117028	AGAAGCCGATCC	A	G2117029A	PKD1	NM_001009944.3(PKD1):c.1400_1410del:p.Trp467fs	coding	Pathogenic
16	2117518	CACGGCGGGA	GT	C2117518G	PKD1	NM_001009944.3(PKD1):c.1347_1356delinsAC:p.Ser449fs	coding	Pathogenic
16	2117565	GAC	G	A2117568T	PKD1	NM_001009944.3(PKD1):c.1305_1306GT[1]:p.Cys436fs	coding	Pathogenic
16	2117622	G	GCCCGTTGCCAGGGAAGATCT	G2117645C	PKD1	NM_001009944.3(PKD1):c.1232_1251dup:p.His418fs	coding	Pathogenic
16	2117666	TGC	T	G2117667A	PKD1	NM_001009944.3(PKD1):c.1206_1207del:p.His403fs	coding	Pathogenic
16	2117820	A	AT	G2117822T	PKD1	NM_001009944.3(PKD1):c.1171dup:p.Ile391fs	coding	Pathogenic
16	2117903	GCACACGAGCTC	G	C2117906G	PKD1	NM_001009944.3(PKD1):c.1078_1088del:p.Glu360fs	coding	Pathogenic
16	2117972	CCCCAGGGCCAGCACGG	C	C2117975G	PKD1	NM_001009944.3(PKD1):c.1004_1019del:p.Ala335fs	coding	Pathogenic
16	2118026	C	CGA	G2118030A	PKD1	NM_001009944.3(PKD1):c.964_965dup:p.His323fs	coding	Pathogenic
16	2118044	GGCATCCACCTCGGCGGAGCCGTCT	ATCCA	G2118044A	PKD1	NM_001009944.3(PKD1):c.924_948delinsTGGAT:p.Asp309fs	coding	Pathogenic
16	2118129	TGGCCAGA	T	C2118139T	PKD1	NM_001009944.3(PKD1):c.849_855TCTGGCC[1]:p.Ser286_Gly287insTer	coding	Pathogenic
16	2118236	C	CG	C2118243G	PKD1	NM_001009944.3(PKD1):c.755dup:p.Pro253fs	coding	Pathogenic
16	2118280	AG	A	G2118283C	PKD1	NM_001009944.3(PKD1):c.711del:p.Ser238fs	coding	Pathogenic
16	2118284	CT	C	T2118285G	PKD1	NM_001009944.3(PKD1):c.707del:p.Gln236fs	coding	Pathogenic
16	2118759	TG	T	G2118760C	PKD1	NM_001009944.3(PKD1):c.445del:p.Gln149fs	coding	Pathogenic
16	2118765	A	AC	G2118769C	PKD1	NM_001009944.3(PKD1):c.439dup:p.Val147fs	coding	Pathogenic
16	2118820	AC	A	C2118821T	PKD1	NM_001009944.3(PKD1):c.384del:p.Glu128fs	coding	Pathogenic
16	2119120	CTTAAA	C	T2119127A	PKD1	NC_000016.10:g.2119122_2119126TAAAT[1]	coding	Pathogenic
16	2135471	TCA	T	C2135474G	PKD1	NM_001009944.3(PKD1):c.215+2_215+3del	noncoding	Pathogenic
16	2135483	GGCGTCCGCGGGGATGCGCAGCGCGGGACCGA	G	G2135492A	PKD1	NM_001009944.3(PKD1):c.176_206del:p.Leu59fs	coding	Pathogenic
16	2135494	G	GGGTC	A2135496G	PKD1	NM_001009944.3(PKD1):c.195_196insGACC:p.Pro66fs	coding	Pathogenic
16	2135518	TCCGCAGC	T	A2135523G	PKD1	NM_001009944.3(PKD1):c.165_171del:p.Leu56fs	coding	Pathogenic
16	2135523	A	AGGCCCGC	C2135525G	PKD1	NM_001009944.3(PKD1):c.166_167insGCGGGCC:p.Leu56fs	coding	Pathogenic
16	2135581	AG	A	G2135587C	PKD1	NM_001009944.3(PKD1):c.108del:p.Cys37fs	coding	Pathogenic
16	2135611	CG	C	G2135615C	PKD1	NM_001009944.3(PKD1):c.78del:p.Arg28fs	coding	Pathogenic
16	2164005	AGGGTGTGCC	A	G2164006C	TRAF7	NM_032271.3(TRAF7):c.81+5_81+13del	noncoding	Benign
16	2319632	GGTGTA	G	T2319634G	ABCA3	NM_001089.3(ABCA3):c.817_821del:p.Tyr273fs	coding	Pathogenic
16	2496318	GC	G	C2496320T	TBC1D24	NM_001199107.2(TBC1D24):c.172del:p.Arg57_Leu58insTer	coding	Pathogenic
16	2496621	TC	T	C2496623T	TBC1D24	NM_001199107.2(TBC1D24):c.475del:p.Leu159fs	coding	Pathogenic/Likely_pathogenic
16	2496704	CT	C	T2496705G	TBC1D24	NM_001199107.2(TBC1D24):c.557del:p.Leu186fs	coding	Pathogenic
16	2496839	GTCTTCCTGG	CTT	G2496839C	TBC1D24	NM_001199107.2(TBC1D24):c.691_700delinsCTT:p.Val231fs	coding	Pathogenic
16	2497708	AGT	A	G2497713C	TBC1D24	NM_020705.3(TBC1D24):c.966-529GT[2]	noncoding	Pathogenic
16	2498261	AT	A	T2498262G	TBC1D24	NM_001199107.2(TBC1D24):c.1008del:p.His336fs	coding	Pathogenic
16	2500424	C	CA	C2500426A	TBC1D24	NM_001199107.2(TBC1D24):c.1460dup:p.His487fs	coding	Pathogenic
16	2503569	A	AT	G2503584T	TBC1D24	NM_001199107.2(TBC1D24):c.*2625dup	noncoding	Benign
16	2769117	TTCC	T	C2769138T	SRRM2	NM_016333.4(SRRM2):c.7857_7859CTC[6]:p.Ser2648del	coding	Benign
16	3013447	CT	C	T3013448G	CLDN9	NM_020982.4(CLDN9):c.86del:p.Leu29fs	coding	Pathogenic
16	3027261	TCA	T	A3027263C	THOC6	NM_024339.5(THOC6):c.793_794del:p.Thr265fs	coding	Pathogenic
16	3027392	CG	C	G3027393T	THOC6	NM_024339.5(THOC6):c.838del:p.Val280fs	coding	Pathogenic
16	3243405	CAT	TAC	C3243405T	MEFV	NM_001198536.1(MEFV):c.*284_*286delinsGTA	coding	Pathogenic
16	3256322	GC	G	C3256325T	MEFV	NM_000243.3(MEFV):c.265del:p.Ala89fs	coding	Pathogenic
16	3582617	G	GC	G3582619C	SLX4	NM_032444.4(SLX4):c.5229dup:p.Gln1744fs	coding	Pathogenic/Likely_pathogenic
16	3583387	CA	C	A3583389C	SLX4	NM_032444.4(SLX4):c.4862del:p.Leu1621fs	coding	Pathogenic
16	3589232	GA	G	A3589233G	SLX4	NM_032444.4(SLX4):c.4405del:p.Ser1469fs	coding	Pathogenic
16	3589234	GCGACAGTCACGGC	G	C3589235T	SLX4	NM_032444.4(SLX4):c.4391_4403del:p.Ser1464fs	coding	Pathogenic
16	3589378	T	TG	T3589385G	SLX4	NM_032444.4(SLX4):c.4259dup:p.Ile1421fs	coding	Pathogenic
16	3589504	CG	C	G3589506C	SLX4	NM_032444.4(SLX4):c.4133del:p.Pro1378fs	coding	Pathogenic
16	3589547	CCT	C	C3589548G	SLX4	NM_032444.4(SLX4):c.4089_4090del:p.Asp1365fs	coding	Pathogenic
16	3589908	TGCTC	T	G3589909T	SLX4	NM_032444.4(SLX4):c.3726_3729del:p.Ser1243fs	coding	Pathogenic
16	3590783	GC	AT	G3590783A	SLX4	NM_032444.4(SLX4):c.2854_2855delinsAT:p.Ala952Met	coding	Benign/Likely_benign
16	3591188	TC	T	C3591190T	SLX4	NM_032444.4(SLX4):c.2449del:p.Glu817fs	coding	Pathogenic
16	3596189	CGGGCCACG	C	G3596192C	SLX4	NM_032444.4(SLX4):c.1880_1887del:p.Pro627fs	coding	Pathogenic
16	3600974	C	CT	A3600977T	SLX4	NM_032444.4(SLX4):c.1163+3dup	noncoding	Pathogenic
16	3601048	TG	T	G3601053C	SLX4	NM_032444.4(SLX4):c.1093del:p.Gln365fs	coding	Pathogenic
16	3602207	GC	G	C3602208T	SLX4	NM_032444.4(SLX4):c.860del:p.Ser287fs	coding	Pathogenic
16	3608450	AG	A	G3608452T	SLX4	NM_032444.4(SLX4):c.514del:p.Leu172fs	coding	Pathogenic
16	3608678	GT	G	T3608681G	SLX4	NM_032444.4(SLX4):c.286del:p.Thr96fs	coding	Pathogenic
16	3608905	CA	C	A3608906G	SLX4	NM_032444.4(SLX4):c.59del:p.Leu20fs	coding	Pathogenic
16	3664410	C	CCGG	A3664414C	TRAP1	NM_016292.3(TRAP1):c.1430_1432dup:p.Gly478_Gln479insAla	coding	Benign
16	3671801	A	AG	C3671802G	TRAP1	NM_016292.3(TRAP1):c.1166-11_1166-10insC	noncoding	Benign
16	3676073	GG	CA	G3676073C	TRAP1	NM_016292.3(TRAP1):c.776_777delinsTG:p.Ser259Leu	coding	Benign
16	3728417	CTGCTGTTGT	C	T3728423C	CREBBP	NM_004380.3(CREBBP):c.6621_6629del:p.Gln2214_Gln2216del	coding	Benign
16	3728423	TTGTTGCTGCTGC	T	T3728438C	CREBBP	NM_004380.3(CREBBP):c.6600_6611GCAGCAGCAACA[1]:p.Gln2213_Gln2216del	coding	Benign/Likely_benign
16	3728629	GCAGGCTGGGCTGCTGGTGCATGC	G	C3728639G	CREBBP	NM_004380.3(CREBBP):c.6395_6417del:p.Gly2132fs	coding	Pathogenic
16	3728629	G	GCAGGCTGGGCTGCTGGTGCATGC	G3728662C	CREBBP	NM_004380.3(CREBBP):c.6395_6417dup:p.Gln2140fs	coding	Pathogenic
16	3728643	T	GCA	T3728643G	CREBBP	NM_004380.3(CREBBP):c.6404delinsTGC:p.Gln2135fs	coding	Pathogenic
16	3728816	GGGCGACTTCA	G	C3728819G	CREBBP	NM_004380.3(CREBBP):c.6221_6230del:p.Leu2074fs	coding	Pathogenic
16	3728826	AG	A	G3728829T	CREBBP	NM_004380.3(CREBBP):c.6220del:p.Thr2073_Leu2074insTer	coding	Pathogenic
16	3728847	A	AGAGCGCT	G3728856A	CREBBP	NM_004380.3(CREBBP):c.6193_6199dup:p.Leu2067fs	coding	Pathogenic
16	3728909	C	CGCCTGGGCCTGCATGGATATCACAG	A3728943C	CREBBP	NM_004380.3(CREBBP):c.6113_6137dup:p.Ala2047fs	coding	Pathogenic
16	3728909	CGCCTGGGCCTGCATGGATATCACAG	C	C3728918A	CREBBP	NM_004380.3(CREBBP):c.6113_6137del:p.Pro2038fs	coding	Pathogenic
16	3728930	CACAGGCCTGG	C	A3728931G	CREBBP	NM_004380.3(CREBBP):c.6107_6116del:p.Pro2036fs	coding	Pathogenic
16	3728942	CA	C	A3728944G	CREBBP	NM_004380.3(CREBBP):c.6104del:p.Leu2035fs	coding	Pathogenic
16	3729060	GC	G	C3729062A	CREBBP	NM_004380.3(CREBBP):c.5986del:p.Ala1996fs	coding	Pathogenic
16	3729110	G	GA	T3729111A	CREBBP	NM_004380.3(CREBBP):c.5936_5937insT:p.Ser1980fs	coding	Pathogenic
16	3729177	TC	T	C3729179A	CREBBP	NM_004380.3(CREBBP):c.5869del:p.Glu1957fs	coding	Pathogenic
16	3729190	G	GA	G3729192A	CREBBP	NM_004380.3(CREBBP):c.5856dup:p.Pro1953fs	coding	Pathogenic
16	3729201	G	GC	G3729204C	CREBBP	NM_004380.3(CREBBP):c.5845dup:p.Ala1949fs	coding	Pathogenic
16	3729202	CCGGGGGTGGGG	C	C3729203G	CREBBP	NM_004380.3(CREBBP):c.5834_5844del:p.Pro1945fs	coding	Pathogenic
16	3729209	T	TG	C3729217G	CREBBP	NM_004380.3(CREBBP):c.5837dup:p.Pro1947fs	coding	Pathogenic
16	3729256	T	TG	C3729263G	CREBBP	NM_004380.3(CREBBP):c.5790dup:p.Thr1931fs	coding	Pathogenic
16	3729324	TG	T	G3729327C	CREBBP	NM_004380.3(CREBBP):c.5722del:p.Gln1908fs	coding	Pathogenic
16	3729343	TCTGGGGTGTG	T	G3729349C	CREBBP	NM_004380.3(CREBBP):c.5694_5703del:p.Ser1898fs	coding	Pathogenic
16	3729379	G	GC	G3729381C	CREBBP	NM_004380.3(CREBBP):c.5667dup:p.Pro1890fs	coding	Pathogenic
16	3729404	ACT	A	C3729407G	CREBBP	NM_001079846.1(CREBBP):c.5525_5526AG[1]:p.Leu1844fs	coding	Pathogenic
16	3731322	AAGG	A	G3731328A	CREBBP	NM_001079846.1(CREBBP):c.4922_4924CCT[1]:p.Ser1642del	coding	Pathogenic/Likely_pathogenic
16	3731873	CT	C	T3731877G	CREBBP	NM_004380.3(CREBBP):c.4792del:p.Ser1598fs	coding	Pathogenic
16	3736033	TA	T	A3736034C	CREBBP	NM_004380.3(CREBBP):c.4728+2del	noncoding	Pathogenic
16	3736074	TC	T	C3736076T	CREBBP	NM_004380.3(CREBBP):c.4689del:p.Lys1565fs	coding	Pathogenic
16	3736117	T	TAAC	C3736122A	CREBBP	NM_004380.3(CREBBP):c.4644_4646dup:p.Leu1549dup	coding	Pathogenic
16	3736118	AAC	A	C3736122T	CREBBP	NM_004380.3(CREBBP):c.4642_4643GT[1]:p.Leu1549fs	coding	Pathogenic
16	3736751	G	GA	G3736752A	CREBBP	NM_004380.3(CREBBP):c.4458_4459insT:p.His1487fs	coding	Pathogenic
16	3736805	C	CT	G3736807T	CREBBP	NM_004380.3(CREBBP):c.4404dup:p.Gly1469fs	coding	Pathogenic
16	3739627	C	CA	G3739634A	CREBBP	NM_004380.3(CREBBP):c.4230dup:p.Gly1411fs	coding	Pathogenic
16	3739651	CA	C	A3739653T	CREBBP	NM_004380.3(CREBBP):c.4206del:p.Ile1402fs	coding	Pathogenic
16	3740453	C	CG	A3740456G	CREBBP	NM_004380.3(CREBBP):c.4078dup:p.Arg1360fs	coding	Pathogenic
16	3740474	TCAGGGTGATTCTGG	T	A3740476G	CREBBP	NM_004380.3(CREBBP):c.4044_4057del:p.Gln1349fs	coding	Pathogenic
16	3740538	TG	T	G3740540T	CREBBP	NM_004380.3(CREBBP):c.3993del:p.Thr1332fs	coding	Pathogenic
16	3744898	AG	A	G3744899C	CREBBP	NM_004380.3(CREBBP):c.3977del:p.Ala1326fs	coding	Pathogenic
16	3749630	TC	T	C3749631G	CREBBP	NM_004380.3(CREBBP):c.3832del:p.Glu1278fs	coding	Pathogenic
16	3751786	CACTTCTCACAGA	TGATACCTGTCAGCAAGATCACAG	C3751786T	CREBBP	NM_004380.3(CREBBP):c.3707_3719delinsCTGTGATCTTGCTGACAGGTATCA:p.Phe1236fs	coding	Pathogenic
16	3757320	AGGAAT	A	A3757323T	CREBBP	NM_004380.3(CREBBP):c.3661_3665del:p.Ile1221fs	coding	Pathogenic
16	3757326	GG	TACCAT	G3757326T	CREBBP	NM_004380.3(CREBBP):c.3659_3660delinsATGGTA:p.Thr1220fs	coding	Pathogenic
16	3757347	GCAGCA	G	G3757350A	CREBBP	NM_004380.3(CREBBP):c.3634_3638del:p.Cys1212fs	coding	Pathogenic
16	3757362	T	TG	A3757367G	CREBBP	NM_004380.3(CREBBP):c.3623dup:p.Gln1209fs	coding	Pathogenic
16	3757819	CA	C	A3757820G	CREBBP	NM_004380.3(CREBBP):c.3598del:p.Cys1200fs	coding	Pathogenic
16	3757956	C	CA	C3757958A	CREBBP	NM_004380.3(CREBBP):c.3461dup:p.Asp1155fs	coding	Pathogenic
16	3757984	CCT	C	C3757985G	CREBBP	NM_004380.3(CREBBP):c.3432_3433del:p.Gly1145fs	coding	Pathogenic
16	3757989	GT	G	T3757990C	CREBBP	NM_004380.3(CREBBP):c.3428del:p.Asp1143fs	coding	Pathogenic
16	3758051	TAA	T	A3758063T	CREBBP	NM_004380.3(CREBBP):c.3370-5_3370-4del	noncoding	Benign
16	3758051	TA	T	A3758064T	CREBBP	NM_004380.3(CREBBP):c.3370-4del	noncoding	Benign
16	3758856	G	GA	T3758859A	CREBBP	NM_004380.3(CREBBP):c.3366dup:p.Pro1123fs	coding	Pathogenic
16	3758881	AG	A	G3758883C	CREBBP	NM_004380.3(CREBBP):c.3341del:p.Pro1114fs	coding	Pathogenic
16	3758888	CGGAAA	C	A3758891T	CREBBP	NM_004380.3(CREBBP):c.3330_3334del:p.Phe1111fs	coding	Pathogenic
16	3758930	AG	A	G3758933T	CREBBP	NM_004380.3(CREBBP):c.3292del:p.Thr1097_Leu1098insTer	coding	Pathogenic
16	3767801	C	CT	C3767805T	CREBBP	NM_004380.3(CREBBP):c.3168dup:p.Val1057fs	coding	Pathogenic
16	3767885	CTCCTTGCA	TT	C3767885T	CREBBP	NM_001079846.1(CREBBP):c.2963_2971delinsAA:p.Leu988_Ala991delinsTer	coding	Pathogenic
16	3769212	G	GCT	A3769216T	CREBBP	NM_004380.3(CREBBP):c.3020_3021dup:p.Pro1008fs	coding	Pathogenic
16	3769323	T	TG	T3769325G	CREBBP	NM_004380.3(CREBBP):c.2910dup:p.Arg971fs	coding	Pathogenic
16	3770586	T	TGGGCGTGCAC	A3770597G	CREBBP	NM_004380.3(CREBBP):c.2854_2863dup:p.Gln955fs	coding	Pathogenic
16	3770608	G	GT	G3770611T	CREBBP	NM_004380.3(CREBBP):c.2841dup:p.Gln948fs	coding	Pathogenic
16	3770632	CC	A	C3770632A	CREBBP	NM_004380.3(CREBBP):c.2817_2818delinsT:p.Ala940fs	coding	Pathogenic
16	3770639	C	CG	C3770645G	CREBBP	NM_004380.3(CREBBP):c.2810dup:p.Ser938fs	coding	Pathogenic
16	3770655	GT	G	T3770658G	CREBBP	NM_004380.3(CREBBP):c.2794del:p.Thr932fs	coding	Pathogenic
16	3770662	G	GC	T3770664C	CREBBP	NM_004380.3(CREBBP):c.2787dup:p.Pro930fs	coding	Pathogenic
16	3770730	GGCACTGA	G	A3770733C	CREBBP	NM_004380.3(CREBBP):c.2713_2719del:p.Ser905fs	coding	Pathogenic
16	3770760	TGCCCGGAAGAC	GG	T3770760G	CREBBP	NM_001079846.1(CREBBP):c.2565_2576delinsCC:p.Ser856fs	coding	Pathogenic
16	3770764	CG	C	G3770766A	CREBBP	NM_004380.3(CREBBP):c.2685del:p.Gln897fs	coding	Pathogenic
16	3770842	GGA	G	G3770847T	CREBBP	NM_001079846.1(CREBBP):c.2488_2489TC[2]:p.Leu831fs	coding	Pathogenic
16	3773757	C	CA	C3773759A	CREBBP	NM_004380.3(CREBBP):c.2456dup:p.Ser820fs	coding	Pathogenic
16	3773847	AGCGGGCGCCTGG	A	G3773850C	CREBBP	NM_004380.3(CREBBP):c.2355_2366del:p.Ala787_Gln790del	coding	Benign
16	3773883	AC	A	C3773886A	CREBBP	NM_004380.3(CREBBP):c.2330del:p.Gly777fs	coding	Pathogenic
16	3773891	TG	T	G3773892T	CREBBP	NM_004380.3(CREBBP):c.2322del:p.Asn774fs	coding	Pathogenic
16	3774618	GA	G	A3774619G	CREBBP	NM_004380.3(CREBBP):c.2233del:p.Ser745fs	coding	Pathogenic
16	3774673	T	TG	T3774678G	CREBBP	NM_004380.3(CREBBP):c.2178dup:p.Met727fs	coding	Pathogenic
16	3777647	CAG	C	A3777648G	CREBBP	NM_004380.3(CREBBP):c.2122_2123del:p.Leu708fs	coding	Pathogenic
16	3778097	TG	T	G3778098T	CREBBP	NM_004380.3(CREBBP):c.2026del:p.Gln676fs	coding	Pathogenic
16	3778118	CG	A	C3778118A	CREBBP	NM_004380.3(CREBBP):c.2005_2006delinsT:p.Lys668_Arg669insTer	coding	Pathogenic
16	3778723	T	TG	T3778725G	CREBBP	NM_004380.3(CREBBP):c.1917dup:p.Met640fs	coding	Pathogenic
16	3778728	CCTTCCA	C	C3778732T	CREBBP	NM_004380.3(CREBBP):c.1907_1912del:p.Val636_Glu637del	coding	Pathogenic
16	3778785	G	GC	G3778787C	CREBBP	NM_004380.3(CREBBP):c.1855dup:p.Ala619fs	coding	Pathogenic
16	3780733	GT	G	T3780736A	CREBBP	NM_004380.3(CREBBP):c.1821del:p.Lys607fs	coding	Pathogenic
16	3780860	GC	G	C3780862A	CREBBP	NM_004380.3(CREBBP):c.1694del:p.Gly565fs	coding	Pathogenic
16	3781210	GC	G	C3781215A	CREBBP	NM_004380.3(CREBBP):c.1669del:p.Ala557fs	coding	Pathogenic
16	3781216	AG	A	G3781219A	CREBBP	NM_004380.3(CREBBP):c.1663del:p.Leu555fs	coding	Pathogenic
16	3781289	TG	T	G3781290T	CREBBP	NM_004380.3(CREBBP):c.1590del:p.Asn530fs	coding	Pathogenic
16	3782693	TGA	T	A3782697T	CREBBP	NM_001079846.1(CREBBP):c.1446_1447TC[1]:p.Leu483fs	coding	Pathogenic
16	3782861	TCTGTTGCC	T	T3782866G	CREBBP	NM_004380.3(CREBBP):c.1388_1395del:p.Gly463fs	coding	Pathogenic
16	3792029	GAC	G	C3792031G	CREBBP	NM_004380.3(CREBBP):c.1280_1281del:p.Cys427fs	coding	Pathogenic
16	3792079	GATGCACA	G	C3792083G	CREBBP	NM_004380.3(CREBBP):c.1225_1231del:p.Cys409fs	coding	Pathogenic
16	3793473	C	CCT	C3793479T	CREBBP	NM_004380.3(CREBBP):c.1125_1126AG[3]:p.Val377fs	coding	Pathogenic
16	3793477	TC	T	C3793479G	CREBBP	NM_004380.3(CREBBP):c.1124del:p.Gly375fs	coding	Pathogenic
16	3793539	G	GT	A3793541T	CREBBP	NM_004380.3(CREBBP):c.1062dup:p.Gln355fs	coding	Pathogenic
16	3793557	CA	C	A3793558G	CREBBP	NM_004380.3(CREBBP):c.1044del:p.Glu349fs	coding	Pathogenic
16	3810603	C	CATATTTGG	C3810612A	CREBBP	NM_004380.3(CREBBP):c.967_974dup:p.Met325fs	coding	Pathogenic
16	3810667	AC	A	C3810669A	CREBBP	NM_004380.3(CREBBP):c.910del:p.Val304fs	coding	Pathogenic
16	3810691	T	TG	T3810697G	CREBBP	NM_004380.3(CREBBP):c.886dup:p.Gln296fs	coding	Pathogenic
16	3810749	C	CAA	T3810753A	CREBBP	NM_004380.3(CREBBP):c.827_828dup:p.Gly277fs	coding	Pathogenic
16	3850396	GCCCTGCATGGCTGGAGTAGGGTACGGCATTCCAGCTC	G	G3850401T	CREBBP	NM_004380.3(CREBBP):c.662_698del:p.Gly221fs	coding	Pathogenic
16	3850527	TG	T	G3850528A	CREBBP	NM_004380.3(CREBBP):c.567del:p.Asn190fs	coding	Pathogenic
16	3850587	GTGACGTGGCAGGGC	G	A3850590C	CREBBP	NM_004380.3(CREBBP):c.494_507del:p.Ser165fs	coding	Pathogenic
16	3850622	TG	T	G3850623C	CREBBP	NM_004380.3(CREBBP):c.472del:p.Gln158fs	coding	Pathogenic
16	3850745	G	GCA	T3850749A	CREBBP	NM_004380.3(CREBBP):c.348_349dup:p.Ala117fs	coding	Pathogenic
16	3850779	GCC	G	C3850781T	CREBBP	NM_004380.3(CREBBP):c.314_315del:p.Gly105fs	coding	Pathogenic
16	3850795	AC	A	C3850798A	CREBBP	NM_004380.3(CREBBP):c.299del:p.Gly100fs	coding	Pathogenic
16	3850812	C	CG	C3850817G	CREBBP	NM_004380.3(CREBBP):c.282dup:p.Val95fs	coding	Pathogenic
16	3850851	T	TTA	A3850852T	CREBBP	NM_004380.3(CREBBP):c.243_244insTA:p.Ile82Ter	coding	Pathogenic
16	3850909	ATCTGGAACAAGGT	A	T3850912C	CREBBP	NM_004380.3(CREBBP):c.173_185del:p.Asn58fs	coding	Pathogenic
16	3851004	CA	C	A3851008T	CREBBP	NM_004380.3(CREBBP):c.90del:p.Phe30fs	coding	Pathogenic
16	3879831	CCTGTGCTGTCATTCGCCGAGAAACCGGGCGAGCTGAGTTTGGCTCTTTTGGGGTTGGGCGGTCCGTCCAGCAAGTTCTCAGCCATTTTCACCTGCTCGCGAAAACAGCCCCGGGCACGGGCGGCCGGGCCGGCGAGGGCCCGGACGGGGGTCGGGGGCCCTGCCGGCTGCGAGGGAGAGGAGCGAGCGCGGGCCGCGAGCGGGCGGGCGGGCGCCGAGGGAGAGGGAGGGCGCAGGCCGGGTGGGGGAGGCGGCGGCCAAATCTCAGCCACAGCAACAGCGCCCCGCAG	C	T3879833G	CREBBP	NM_004380.3(CREBBP):c.-204_85del:p.Met1fs	coding	Pathogenic
16	3879867	AG	A	G3879868T	CREBBP	NM_004380.3(CREBBP):c.49del:p.Leu17fs	coding	Pathogenic
16	3879880	TG	T	G3879884T	CREBBP	NM_004380.3(CREBBP):c.36del:p.Arg14fs	coding	Pathogenic
16	4697038	C	CG	C4697040G	ANKS3	NM_133450.4(ANKS3):c.1960dup:p.Arg654fs	coding	Pathogenic
16	4797817	TCCAG	T	C4797818G	ROGDI	NM_024589.3(ROGDI):c.715_718del:p.Leu239fs	coding	Pathogenic
16	4797967	G	GC	A4797973C	ROGDI	NM_024589.2(ROGDI):c.665dup:p.Ala223fs	coding	Pathogenic
16	4798592	C	CGG	A4798597G	ROGDI	NM_024589.2(ROGDI):c.506_507dup:p.Glu170fs	coding	Pathogenic
16	4798592	CG	C	G4798596A	ROGDI	NM_024589.2(ROGDI):c.507del:p.Glu170fs	coding	Pathogenic
16	4800525	C	CCGGAAGG	A4800535G	ROGDI	NM_024589.2(ROGDI):c.302_308dup:p.Glu104fs	coding	Pathogenic
16	4801291	CAG	C	A4801294T	ROGDI	NM_024589.2(ROGDI):c.227_228CT[1]:p.Leu77fs	coding	Pathogenic
16	4885975	T	TCCA	G4885980C	PPL	NM_002705.5(PPL):c.2677_2679dup:p.Trp893dup	coding	Benign
16	5071916	TG	T	G5071918A	ALG1	NM_019109.4(ALG1):c.69del:p.Gly22_Trp23insTer	coding	Pathogenic
16	5071962	TG	T	G5071964T	ALG1	NM_019109.4(ALG1):c.115del:p.Val39fs	coding	Pathogenic
16	5072071	G	GGTCT	G5072077T	ALG1	NM_019109.4(ALG1):c.208+16_208+19dup	noncoding	Benign
16	5081042	AC	A	C5081047T	ALG1	NM_019109.5(ALG1):c.1063del:p.Leu355fs	coding	Pathogenic
16	5083744	C	CTG	A5083745T	ALG1	NM_001330504.1(ALG1):c.917_918insTG:p.Ala307fs	coding	Pathogenic/Likely_pathogenic
16	5084897	C	CTA	A5084900T	ALG1	NM_201400.4(EEF2KMT):c.*733_*734dup	noncoding	Benign
16	6316983	TTTC	T	C6316989T	RBFOX1	NM_018723.4(RBFOX1):c.-126-6_-126-4del	noncoding	Benign
16	7676816	ACTGCCG	A	G7676822T	RBFOX1	NM_018723.4(RBFOX1):c.979_984del:p.Ala327_Ala328del	coding	Pathogenic
16	8764843	G	GCA	G8764866C	ABAT	NM_020686.6(ABAT):c.540+14CA[12]	noncoding	Benign
16	8797905	TC	T	C8797906T	PMM2	NM_000303.3(PMM2):c.24del:p.Cys9fs	coding	Pathogenic/Likely_pathogenic
16	8797936	CG	C	G8797937C	PMM2	NM_000303.3(PMM2):c.55del:p.Ala19fs	coding	Pathogenic
16	8801827	TA	GC	T8801827G	PMM2	NM_000303.3(PMM2):c.95_96delinsGC:p.Leu32Arg	coding	Pathogenic
16	8801890	A	AG	A8801893G	PMM2	NM_000303.3(PMM2):c.160dup:p.Glu54fs	coding	Pathogenic
16	8804745	G	GT	G8804753T	PMM2	NM_000303.3(PMM2):c.179-15dup	noncoding	Benign
16	8804777	AT	A	T8804778A	PMM2	NM_000303.3(PMM2):c.190del:p.Tyr64fs	coding	Pathogenic/Likely_pathogenic
16	8806383	CG	C	G8806384A	PMM2	NM_000303.3(PMM2):c.324del:p.Ile110fs	coding	Pathogenic
16	8811020	T	TATG	T8811024A	PMM2	NM_000303.3(PMM2):c.348-58_348-56dup	noncoding	Benign
16	8811119	TC	T	C8811123T	PMM2	NM_000303.3(PMM2):c.392del:p.Pro131fs	coding	Pathogenic/Likely_pathogenic
16	8811675	GGAAA	G	A8811678G	PMM2	NM_000303.3(PMM2):c.488_491del:p.Lys163fs	coding	Pathogenic
16	8811700	C	CA	C8811702A	PMM2	NM_000303.3(PMM2):c.511dup:p.Thr171fs	coding	Pathogenic/Likely_pathogenic
16	8898446	AAAAG	A	A8898452T	USP7	NM_003470.3(USP7):c.2641-13_2641-10del	noncoding	Benign
16	8923417	C	CA	C8923426A	USP7	NM_003470.3(USP7):c.185-12dup	noncoding	Benign
16	9763842	GA	G	A9763844G	GRIN2A	NM_001134407.3(GRIN2A):c.3701del:p.Phe1234fs	coding	Pathogenic
16	9764653	TG	T	G9764655A	GRIN2A	NM_001134407.3(GRIN2A):c.2890del:p.Gln964fs	coding	Pathogenic
16	9764883	CA	C	A9764884G	GRIN2A	NM_001134407.3(GRIN2A):c.2660del:p.Leu887fs	coding	Pathogenic
16	9798268	GGGTCTTACCATCACCCACA	G	G9798269A	GRIN2A	NM_001134407.3(GRIN2A):c.2346_2356+8del	noncoding	Pathogenic/Likely_pathogenic
16	9822288	TC	T	C9822290T	GRIN2A	NM_001134407.3(GRIN2A):c.2143del:p.Asp715fs	coding	Pathogenic
16	9822446	A	AAG	T9822457A	GRIN2A	NM_001134407.3(GRIN2A):c.2008-32CT[6]	noncoding	Benign
16	9829604	C	CA	G9829608A	GRIN2A	NM_001134407.3(GRIN2A):c.1825dup:p.Trp609fs	coding	Pathogenic
16	9829616	ATAGC	A	A9829618T	GRIN2A	NM_001134407.3(GRIN2A):c.1810_1813del:p.Ala604fs	coding	Pathogenic
16	9840649	AG	A	G9840650A	GRIN2A	NM_001134407.3(GRIN2A):c.1648del:p.Phe549_Leu550insTer	coding	Pathogenic
16	9840656	CAGA	C	A9840659G	GRIN2A	NM_001134407.3(GRIN2A):c.1639_1641del:p.Ser547del	coding	Pathogenic
16	9840768	G	GC	A9840771C	GRIN2A	NM_001134407.3(GRIN2A):c.1529dup:p.Ser511fs	coding	Pathogenic
16	9840979	TG	T	G9840980C	GRIN2A	NM_001134407.3(GRIN2A):c.1453del:p.His485fs	coding	Pathogenic
16	9841070	AT	A	T9841073C	GRIN2A	NM_001134407.3(GRIN2A):c.1362del:p.Lys454fs	coding	Pathogenic
16	9841420	CA	C	A9841421G	GRIN2A	NM_001134407.3(GRIN2A):c.1329-317del	noncoding	Benign
16	9849839	T	TG	C9849844G	GRIN2A	NM_001134407.3(GRIN2A):c.1244dup:p.Phe416fs	coding	Pathogenic
16	9849879	TC	T	C9849881G	GRIN2A	NM_001134407.3(GRIN2A):c.1204del:p.Asp402fs	coding	Pathogenic
16	9891053	TC	T	C9891054A	GRIN2A	NM_001134407.3(GRIN2A):c.1054del:p.Glu352fs	coding	Pathogenic
16	9938338	AG	A	G9938340A	GRIN2A	NM_001134407.3(GRIN2A):c.627del:p.Phe210fs	coding	Pathogenic
16	10180232	C	CGCCT	T10180239C	GRIN2A	NM_001134407.3(GRIN2A):c.176_179dup:p.Ala61fs	coding	Pathogenic
16	10180315	C	CG	A10180322G	GRIN2A	NM_001134407.3(GRIN2A):c.96dup:p.Ala33fs	coding	Pathogenic
16	10180344	G	GGCGCCGGACC	A10180360G	GRIN2A	NM_001134407.3(GRIN2A):c.58_67dup:p.Pro23fs	coding	Pathogenic
16	10180357	GCCAGA	G	C10180363A	GRIN2A	NM_001134407.3(GRIN2A):c.45_49TCTGG[1]:p.Val17fs	coding	Pathogenic
16	10902657	GTGCC	G	G10902659T	CIITA	NM_000246.3(CIITA):c.630_633del:p.Met210fs	coding	Pathogenic
16	10906681	CT	C	T10906682G	CIITA	NM_000246.3(CIITA):c.1190del:p.Leu397fs	coding	Pathogenic
16	10907447	G	GC	G10907455C	CIITA	NM_001286403.2(CIITA):c.860-1529dup	coding	Pathogenic
16	10915569	GGCTGGGCCCTGTCTCAGGCCCCCAGGCTTTCCCCAAACTGGTGCGGATCCTCACGGCCTTTTCCTCCCTGCAGCATCTGGA	G	C10915571T	CIITA	NM_000246.3(CIITA):c.2890_2969+1del	coding	Pathogenic
16	10922254	AGT	A	T10922258G	CIITA	NM_000246.3(CIITA):c.3233+8_3233+9del	noncoding	Benign
16	11549054	T	TA	T11549065A	LITAF	NM_001136473.1(LITAF):c.*707dup	noncoding	Benign
16	11551844	A	ACAAG	T11551849C	LITAF	NM_001136473.1(LITAF):c.378-44_378-41dup	noncoding	Benign
16	11551846	A	AAGTG	T11551850G	LITAF	NM_001136473.1(LITAF):c.378-43_378-42insACTC	noncoding	Benign
16	13923371	TACTGTGATCGTTAGTGAACTTCTGGAGGCAGAGAGACTCTGAAATTCATAATCTTATTCCCACTGTATCTGTCATGTTGCCCTGAACCTAGATGACCCTCAAGAAAAATTTGATAAATAAATGTGTCAATGAATGCTTCAATGGTAAACCGACTGAAGAAGTTTGGTTACTCTTTTATAACTTTTATAATTGTTATAAACAGTATCATAGGCTCACCTGGTTTTGAATGCTAACACCCTGCTTACAAAGCAAACTCCTTAATTTTCATTAACCCCAGTTTTCTCATTAAGAAAACAGTGCTTCCTGAAGTTATTATAAGGATTAAGTTAATAAAATAATTTCTTAGTATAGTGCCTGGTACACAACAAACTCTTAGTAATTCATACCAAATAAAATTGGCCTTTTGTAACCAGAAATCTTGATACACCAGTCTTTTACTGTTTGCTGCTTTCTTATAAGCTTGGTTTTACTTTATTTTTTAAATTGATTTAAAAAAATTTTTTTGTTGTGTTTAAAACTACCACTAGGTGTCAGTAATATCCTGTGACTTTCAGTTACAGTGCAACCTAATTAGGCAGAGAGCAATGTGAATTTATGCAACGTTGAAGTCTGGCTTATCTGTAGCTCCTAATGAAAAATGCCAAATTCCCTCCTCCTTTCTGATCAAAGCCCACCGAATAATGAAGCTGGAGCTGTTACTGATGCTTGGCTGAGTGGAATGTAAATGAATGCCAAAAATGAATTCTTTTGAATTCTTTCATCCCCTGGGATCATCCCCCAGGACTGACCAAAGAGCAGTGCGTGAAGTGCAGGTAACCCTCTGGAAAGGCTGAATCCCCCAGCCCCAACTTCTTCACCTGTCACCACCCATTATTACCACCACACCCCACCCTGGGAATCCCTGCTAACCAGAACTCCTAACACGTGGGAGAACTATATAAATATCTGGTGAGGTTGTACCTTGAAAAGAACAGGACAGGAGGATGCTTTCATTGCCAAAACTGACCCTGACATCTCCAGACAGAACTAAGAACACACTTTCTGGGAAATATATATGTATTTTTCAGTTACACTTTTGATTTGTGTACCCAGTGCTGTGCCTCCACTTTATATTCATTCAACAAATATTTAACTCACTAAGGGTCCCTTGTTTGGCAGGAAGGGTGCTGAAGATAGACAGATGAATGGGACAGTATGGTGAACTCGTGAGTTAGACTGCTTCTGGGTTTGAGTTATCTTCATCTTGCACCAGCTGTGTATTTTTAGGCAAGTTTCTTAATTTCTCTATGCCTCAGCTTACTCACCCGTACATTGGTGATAAAGATAGTACCTTCCTCCTAGGATTGTCAGGGTGAAATGAAATGCTTATATGTAAAATACTTGGTAGCATGGCACATAGTCAGCATTCTATGATCTCTGTGATCTCTGCCTGTTGGTGTTACGATGTTCCTGTTCTCGGGCAGTTTAATGGAGGAGACAAGTAAAGAAGTAGTTATAGTACAGTATGGGTACAAAATGTCATAGGAACAAAAAAAACTAAAGTAGGCTTTTGTGGAGCTAAAACTCCTCCCAAAAACCTAACCTGCTTCTATTATTTTTATTTTTTGAAAAAGGAGTGTCTTGAGTTGGTGTGACTAAATAGGAATAACATGATTTTACACATGATTTGGAACCTTCGGCCTCCCACTTGCTTGCTGGATGACCTTGGTTAAGTTGCTTCCCTTCCTTGGTCTCATCATGATACCTACTGCATGGAATTATCATAACAATTAAATGAAATGAAAATCTATAGAAACACCTAACCCAGTTACCTGGGATGTAGTATCAGTTCTCTTCTTCCTCCTGGGTTCCAACCAAAATAAAGACAACTTTTTGGAGCGCAACATTTTCTTAAATTGAGTTTCTCCTTTTCTTTGGAAGTTCATTTTTATTATTCTTGACTCTACGTAATATTTCAATCCAGGCTAACAAAATGTGGCCTCTTAGAGTCCTTGGGAAAACCCACCAATTAGGTACAGAATATTTTCTGAGTAGTAAATTAGTTATGTACGTGTATTGGGGGGGTTATTGAAAATCCTTTGTCTATGAATTCCTAAATAACATTATTAATTTTTACTATATTTGGAAGATAATTTGCTGAGCTAGAGTAAATTTAGCTCCATCCACCTCTATCCAAAACTTAAACATTAAAATAGTAAAATCTGAGTTTAGTTTATTGAACTATTAGAAGGGTCATAAATCACTGTTAGTATTATTGTCCATACCCTTCCAGATATGAGAACTGGATCAAAAGCATGCAAGTACCATTATGCCAAATATATATAAGGTAACCAGCTTGATTTAGGTCTAAAAGACAGACTCGTCTTGGAGTAATTGTGGTTTTGATCTAGAAAGCATGTCTGTATGCCTTTATGTCATCTCATGTTTCTCCCTAACTTAGCACTAATCACACTGCATCAGATGACACAATATATATGAAAGATCTGGGTCAGTAGTCTCATTTCATAAATAACAAAGCATGTATAATTGTTCTTATTTTTGAGATGCTGAGGTGTTATAATCATGTACACCCCCAAAGACATGTATAAGTATGTCGATTGAAGGTTTTTGTTTTAAATGGACTAATTTACCTCTGAATTGACTATCTTCTGATTCTGAAAATTGAATTCATCTCATAGGTAATGTAGATGTTGCCCAGACTTCTAAAATGTGGCTATTTTGTATAGTCCACATCTGATTCATACATTAAAAAAAAAAAATTCATGACCTACTTTGCTTTCAGAAATTCTTCCTCTGACATGCCAGAAACACCCCACCCCAGGGCCTGTGCCCTCACTGTCCCCTCAGCCTGGCAGCCTGGAACTCTCTTGGCCCAGATGGTCACAAGGCTCCATCCAGCCTTTATTCAGATACCACCTTGGTGAGACCACCCCTCATACATACTCCCTCTCCTCCTTCTCTGATTCATTTTTTCTTCTCAGCACTTGTAGCATCCTAAATATTTTACGTATTTATATTGTTTATAGTCAATTCCTTGAGGACAGGGATTTATCTCTGTTCTGTGCGTGGCTATATGCCCAGTCTAGAATGGTGCTTATTCATTCTCTTGTAAGTACTTAAGAAAAATGTGATGAATGAATGGCAATTACCTACCTGTTCTGTAGTTTAAATTATGTTTCTCCCCCTCAGGCATCTTGGTGTATAGAGCCCACAGAATAATCGAGTCTTGTCAAGAAGCATTCATCTTGCGCCTCTTTCGCCAGAAAAACAAACGTGGTTTTATTAAAGCTTTCACAGACAATGCTGTTGCCTTTGATACTGGTTTTTGTCATGTGGAAAGAGTGATGAGAAATCTTTTTGTGAGGAAACTGTATCTGTGGCCAAGGTAAAGAACATTATGTGACAAATAATGATGACATTATTTGTCATCTTTGTTTGTGAGATCTACTGTAACTTAGTTGCACTTTGATGTAATATAATGTAAAATTCATTGTAATTTTGTTTGATAGAACCTAGTCAGTTTTATAACAAACACATCCAGCTATAAATATGTATTCACCAAGTTTGTGGTTTTATTTAAGTCGAGAGCAATTTGATGGTTGCTTTTCTGCTGGTCCATCACATCCATCCAAGACAGCCACTTTATTCTTTCTTACACATTTAGGGAAACTCCCAGGGATCTAGAGACCCACATATACAACAGCTTTAGGTGTACAGCAGATTTATTGGCTAACATTACCACTTCTGCTTTGAAAATTACTCAACAGGGAAATAAAGCACAAAGGTTTTGAAGAAGTTTTATTAATTTCTAGGAATAACATTAAGGTTTCAGTTTTCAAACATTTTTGCAACCTATGCTACCATGTATTTTGGTTATAATATATGTTATTTTGAGAGTAGTTGTACACCGGGTGCAGTGGCTTACGCCTGTAATCCCAGCGCTTTGGGAGGCCAAGGCAGGCGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGTCAACATGGTGAAACCCTGTCTCTACTATAAATACAAAAATTAGCCAGGCGTGTTGGCACATGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCACTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCTGAGATCGCACCATTGCACTCCAGCCTGGGCAACGAGCGAAACTCCATCTCAAAAAAAAAAAAAAAAAAAAAGAGTAGTTATAGTATTTTTAACTTTCTTGATTATACCTTGTTTTAGGAGTCAACAAACTCTTCATGTAAATGGCCAGGTAGTAAATATTTTGGGCTTTGCAGGCCATATAGACTGTCACAATTACTCAACTCTGTTATTGCCCAAAAACAAGTATAGACTGCTTACATAAGTAATGGTGTGACTGCATTCCAGTGAGACTATAGAAACAGGTACAGGATTTGGCCCAGACCGTAGTTTGCTGACCCTTTCCTTATCTGAATAATACACTGCTTCTATTCATTGAGGTTCAAAGTGTTTTTGAAAATGTTGTTGCTTTGCTTTTCATTTGTTTGTTGTTTTGCTTTTCGTGTTGTTTGTAGCATTTATAAAAATGGGGTGTTAAACCAAGACCAGAAATACATAGCTGCTGAAACTCTAGAAAATTGTTGAAAAATATTTGTCTCTTTAGGTTCCATGTAGCAGTAAACTCATTTTTAGAACAGCACAAACCTGAAGTTGTAGAAATCCATGTTTCTATGACACCTACCATGCTTGCTATACAGACTGCTATACTGGACATTTTAAATGCATGTCTAAAGGAACTAAAATGCCATAACCCATCGCTTGAAGTGGAAGATTTATCTTTAGAAAATGCTATTGGAAAACCTTTTGACAAGGTACTCTTTTTCCTTTTAAGCACAGTTTATTATGTTGTAATTTTAAAGAATGCAAGTTATTTTAATATTTGCAATGTTGTTAATAGGAATTTGCTGTTATTTAAGAATAAAATTGGAGGTCACTTAAAAACATAGCTTCTTTGGTTTACTGGAAAGTAATAATTTATAGTAAAGTATGTGGATTGGCATATAAGCATCACTCTGACTTTTGCAGTTATAGTAAGTGATTATCTCTTATTTTAACTATAATCAAGAAGAAAATAAATAACTTTTTTTACTTTGAAATGACAACACTTGGATGTCTACAGGTAGAAGAGTTTTACATAAGAATGCTCCATAATTGTACATGAATTTATGATCTCTTTTATGGAATAAAAAATAATTTGGATGAGTTTTCATTACTGAGGAGTGTGAAACTTGCTCTGTCTTAAAATTACATTCTGAATTGAGGAAATGGTAAGACATCAGTTCCAGGAATTTTTATTCTAACTAATTTTTTATTATAGATTAATATTGCAGATATATAAATGTCTACTTTTTCATTATAGATTAATATTATTACAGATACATAAACGTCTAGTATTGAATTGGAGATCCAGAAAATGCTGACCTTTTAGAAATTCTTGGCAGCCTTTTTGTCATATTCTGGTAGAAAAAGTTTCTGTCTTTTAAACTCTGAGTCAATCTCTATGTCACTGGCAATAATGCGTGGCGATTATAAAAAAGGAAAAAATTGACTTATTTCTCTGATTCTTCAAAAAAGTCAGTTGACTATGAATATTGATACATAAA	T	G13923375A	ERCC4	NM_005236.3(ERCC4):c.388+1164_792+795del	noncoding	Pathogenic/Likely_pathogenic
16	13926686	GAT	G	T13926688C	ERCC4	NM_005236.3(ERCC4):c.516_517del:p.Thr173fs	coding	Pathogenic
16	13932150	GT	AC	G13932150A	ERCC4	NM_005236.3(ERCC4):c.974-7_974-6inv	noncoding	Benign
16	13932246	G	GA	T13932253A	ERCC4	NM_005236.3(ERCC4):c.1069dup:p.Ile357fs	coding	Pathogenic
16	13935413	TAACTC	T	C13935416A	ERCC4	NM_005236.2(ERCC4):c.1484_1488del:p.Thr495fs	coding	Pathogenic
16	13935661	T	TA	C13935663A	ERCC4	NM_005236.2(ERCC4):c.1730dup:p.Tyr577Ter	coding	Pathogenic
16	13935662	AC	A	C13935663G	ERCC4	NM_005236.2(ERCC4):c.1731del:p.Arg576_Tyr577insTer	coding	Pathogenic
16	13937832	AAAGG	A	G13937836C	ERCC4	NM_005236.3(ERCC4):c.1882_1885del:p.Glu628fs	coding	Pathogenic
16	13947895	TTCTC	T	T13947900A	ERCC4	NM_005236.2(ERCC4):c.2304_2307del	coding	Pathogenic
16	13947966	T	TCTTACACTTCACTTCCCCAGACTACGGA	T13947995C	ERCC4	NM_005236.2(ERCC4):c.2371_2398dup:p.Ile800fs	coding	Pathogenic
16	13950918	GC	G	C13950924T	ERCC4	NM_005236.2(ERCC4):c.*2577del	noncoding	Benign/Likely_benign
16	13952292	AT	A	T13952300G	ERCC4	NM_005236.2(ERCC4):c.*3953del	noncoding	Benign
16	14580878	T	TA	G14580886A	PARN	NM_002582.4(PARN):c.1257dup:p.Asn420Ter	coding	Pathogenic
16	14582239	CTCGTGGAGTT	C	T14582240G	PARN	NM_002582.4(PARN):c.1124_1133del:p.Gln375fs	coding	Pathogenic
16	14586330	CAT	C	A14586331G	PARN	NM_002582.4(PARN):c.948_949del:p.Val318fs	coding	Pathogenic
16	14593355	A	AT	G14593358T	PARN	NM_002582.4(PARN):c.863dup:p.Asn288fs	coding	Pathogenic
16	14599897	CA	C	A14599898C	PARN	NM_002582.4(PARN):c.840+6del	noncoding	Benign
16	14599924	T	TGACTCTAGAAATGATTTCTA	A14599936T	PARN	NM_002582.4(PARN):c.819_820insTAGAAATCATTTCTAGAGTC:p.Ile274Ter	coding	Pathogenic
16	14604215	A	AT	A14604217T	PARN	NM_002582.4(PARN):c.713dup:p.Tyr238Ter	coding	Pathogenic
16	14608273	ATACT	A	A14608279C	PARN	NM_002582.4(PARN):c.659+4_659+7del	noncoding	Pathogenic
16	14609114	T	TA	T14609116A	PARN	NM_002582.4(PARN):c.563dup:p.Glu189fs	coding	Pathogenic
16	14629669	TA	T	A14629673T	PARN	NM_002582.4(PARN):c.24del:p.Phe8fs	coding	Pathogenic
16	15691299	AAC	A	A15691304C	NDE1	NM_017668.3(NDE1):c.680_681AC[2]:p.Pro229fs	coding	Pathogenic
16	15694188	A	AC	T15694195C	NDE1	NM_017668.3(NDE1):c.733dup:p.Leu245fs	coding	Pathogenic
16	15708848	CAGAG	C	G15708854A	MYH11	NM_002474.3(MYH11):c.5787-4733CT[2]	noncoding	Benign/Likely_benign
16	15719638	CTT	C	T15719640G	MYH11	NM_002474.3(MYH11):c.5027_5028del:p.Lys1676fs	coding	Pathogenic
16	15721419	T	TA	C15721421A	MYH11	NM_002474.3(MYH11):c.4578+2dup	noncoding	Pathogenic/Likely_pathogenic
16	15726912	TGCAGCTCCTGCACCTGCGCCTCCAGCTTCTTCTTCTTATGTTCCACCTCCTGCTTGGCCTGGCCCAGGACCC	T	T15726921C	MYH11	NM_002474.3(MYH11):c.3722_3793del:p.Arg1241_Leu1264del	coding	Pathogenic
16	15732552	AAAAAG	A	A15732553C	MYH11	NM_002474.3(MYH11):c.3651+7_3651+11del	noncoding	Benign/Likely_benign
16	15732558	CA	C	A15732559T	MYH11	NM_002474.3(MYH11):c.3651+5del	noncoding	Benign
16	15732607	T	TGTGCG	T15732613G	MYH11	NM_002474.3(MYH11):c.3603_3607dup:p.Gln1203fs	coding	Pathogenic
16	15735401	GTCTTCCAGCTCTGTCTTTAGGGCCTCCAGCTCCTCGCCGAGGTCTCGCT	G	T15735405G	MYH11	NM_002474.3(MYH11):c.3422_3470del:p.Lys1141fs	coding	Pathogenic
16	15735495	TC	T	C15735497T	MYH11	NM_002474.3(MYH11):c.3376del:p.Asp1126fs	coding	Pathogenic
16	15741511	CCT	C	C15741512G	MYH11	NM_002474.3(MYH11):c.2809_2810del:p.Arg937fs	coding	Pathogenic
16	15757818	GC	G	C15757822T	MYH11	NM_002474.3(MYH11):c.1575+8del	noncoding	Benign/Likely_benign
16	15798698	AAAG	A	G15798704A	MYH11	MYH11:c.503-14_503-12del	noncoding	Benign/Likely_benign
16	16150210	CT	C	T16150211G	ABCC6	NM_001171.5(ABCC6):c.4434del:p.Glu1479fs	coding	Pathogenic
16	16150645	TC	T	C16150648G	ABCC6	NM_001171.5(ABCC6):c.4335del:p.Ser1446fs	coding	Pathogenic
16	16150662	AT	A	T16150663C	ABCC6	NM_001171.5(ABCC6):c.4318del:p.Met1440fs	coding	Pathogenic
16	16150668	AGCTCCGT	A	T16150671C	ABCC6	NM_001171.5(ABCC6):c.4306_4312del:p.Thr1436fs	coding	Pathogenic
16	16150726	TC	T	C16150728G	ABCC6	NM_001171.5(ABCC6):c.4254del:p.Lys1419fs	coding	Pathogenic
16	16150737	G	GTTCT	C16150738T	ABCC6	NM_001171.5(ABCC6):c.4243_4244insAGAA:p.Ala1415fs	coding	Pathogenic
16	16150760	T	TTTTC	C16150763T	ABCC6	NM_001171.5(ABCC6):c.4220_4221insGAAA:p.Gln1408fs	coding	Pathogenic
16	16154653	AC	A	C16154654T	ABCC6	NM_001171.5(ABCC6):c.4182del:p.Lys1394fs	coding	Pathogenic
16	16154731	CG	C	G16154732T	ABCC6	NM_001171.5(ABCC6):c.4104del:p.Asp1368fs	coding	Pathogenic
16	16155001	TC	T	C16155004T	ABCC6	NM_001171.5(ABCC6):c.3912del:p.Lys1305fs	coding	Pathogenic
16	16157661	ACCTTCTCT	A	T16157665G	ABCC6	NM_001171.5(ABCC6):c.3876_3882+1del	noncoding	Pathogenic
16	16157662	CCTT	C	T16157665C	ABCC6	NM_001171.5(ABCC6):c.3880_3882del:p.Lys1294del	coding	Pathogenic
16	16157674	CGTGGATCTTGAAGGACACGCCCTGCACAGCCAGCGGGAGCTCAGGTCG	C	G16157677A	ABCC6	NM_001171.5(ABCC6):c.3823_3870del:p.Arg1275_His1290del	coding	Pathogenic
16	16157675	G	GTGGA	C16157681G	ABCC6	NM_001171.5(ABCC6):c.3866_3869dup:p.Ala1291fs	coding	Pathogenic
16	16157716	C	CAGGTCGGTATCTT	C16157732G	ABCC6	NM_001171.5(ABCC6):c.3816_3828dup:p.Glu1277delinsLysIleProThrTer	coding	Pathogenic
16	16157746	AC	A	C16157747T	ABCC6	NM_001171.5(ABCC6):c.3798del:p.Glu1266fs	coding	Pathogenic
16	16157769	CA	C	A16157770G	ABCC6	NM_001171.5(ABCC6):c.3775del:p.Trp1259fs	coding	Pathogenic
16	16157769	C	CG	A16157770G	ABCC6	NM_001171.5(ABCC6):c.3775_3776insC:p.Trp1259fs	coding	Pathogenic
16	16157770	A	AG	C16157777G	ABCC6	NM_001171.5(ABCC6):c.3774dup:p.Trp1259fs	coding	Pathogenic
16	16159524	C	CAA	C16159526A	ABCC6	NM_001171.5(ABCC6):c.3692_3693insTT:p.Ser1232fs	coding	Pathogenic
16	16161455	CAG	C	G16161459A	ABCC6	NM_001351800.1(ABCC6):c.3270_3271CT[1]:p.Ser1091fs	coding	Pathogenic
16	16161526	A	AG	C16161529G	ABCC6	NM_001171.5(ABCC6):c.3544dup:p.Leu1182fs	coding	Pathogenic
16	16162987	TCCTA	T	A16162991G	ABCC6	NM_001171.5(ABCC6):c.3506+2_3506+5del	noncoding	Pathogenic
16	16163134	GA	G	A16163135C	ABCC6	NM_001171.5(ABCC6):c.3364del:p.Ser1122fs	coding	Pathogenic
16	16163153	CCAA	C	C16163154G	ABCC6	NM_001171.5(ABCC6):c.3343_3345del:p.Leu1115del	coding	Pathogenic
16	16163195	GAGAAGGATGGATGGGAGAGGGAAGAGGAGAAGCCA	TCT	G16163195T	ABCC6	NM_001171.5(ABCC6):c.3307-38_3307-3delinsAGA	noncoding	Pathogenic
16	16165621	AC	A	C16165623T	ABCC6	NM_001171.5(ABCC6):c.3306+1del	noncoding	Pathogenic
16	16165820	CAAA	C	A16165821G	ABCC6	NM_001171.5(ABCC6):c.3106_3108del:p.Phe1036del	coding	Pathogenic
16	16169789	AGTGCGTAGAGGCAGAG	A	T16169791G	ABCC6	NM_001171.5(ABCC6):c.2836_2851del:p.Leu946fs	coding	Pathogenic
16	16169820	C	CG	A16169821G	ABCC6	NM_001171.5(ABCC6):c.2820_2821insC:p.Ala941fs	coding	Pathogenic
16	16173283	CCCTG	C	T16173286G	ABCC6	NM_001171.5(ABCC6):c.2784_2787del:p.Gly928_Arg929insTer	coding	Pathogenic
16	16177625	GTC	G	C16177627G	ABCC6	NM_001171.5(ABCC6):c.2416-1_2416del	coding	Pathogenic
16	16178829	AC	A	C16178831T	ABCC6	NM_001171.5(ABCC6):c.2383del:p.Val795fs	coding	Pathogenic
16	16178874	AG	A	G16178879T	ABCC6	NM_001171.5(ABCC6):c.2338del:p.Leu780fs	coding	Pathogenic
16	16178889	AG	A	G16178891T	ABCC6	NM_001171.5(ABCC6):c.2323del:p.Leu775fs	coding	Pathogenic
16	16178965	CCT	C	C16178966G	ABCC6	NM_001171.5(ABCC6):c.2248-2_2248-1del	coding	Pathogenic
16	16178975	CAA	C	A16178978G	ABCC6	NM_001171.5(ABCC6):c.2248-12_2248-11del	noncoding	Pathogenic
16	16182485	ACTCT	A	T16182489C	ABCC6	NM_001351800.1(ABCC6):c.1826_1827AG[1]:p.Arg610fs	coding	Pathogenic
16	16182874	GC	G	C16182879A	ABCC6	NM_001171.5(ABCC6):c.1999del:p.Ala667fs	coding	Pathogenic
16	16182884	GACCGACAACAGCCAGCAGACAGC	G	A16182885C	ABCC6	NM_001171.5(ABCC6):c.1967_1989del:p.Gly656fs	coding	Pathogenic
16	16182895	GC	G	C16182897A	ABCC6	NM_001171.5(ABCC6):c.1978del:p.Ala660fs	coding	Pathogenic
16	16182908	CCTGGGGCACCGTGAGGTTTATT	C	G16182913A	ABCC6	NM_001171.5(ABCC6):c.1944_1965del22	coding	Pathogenic
16	16184932	CTGGTTACTACGGGTGTCGTTCTGTACCTGTGGAGGCAGGGAGGGCTTTCCTGGGACCAGGCGAAGGTGGCACTGTGTA	C	T16184937G	ABCC6	NM_001171.5(ABCC6):c.1892_1943+26del	noncoding	Pathogenic
16	16187133	A	AG	A16187136G	ABCC6	NM_001171.5(ABCC6):c.1857dup:p.Ser620fs	coding	Pathogenic
16	16188868	TGGGCCTTG	C	T16188868C	ABCC6	NM_001351800.1(ABCC6):c.1392_1400delinsG:p.Asn464fs	coding	Pathogenic
16	16188896	TGA	T	A16188900T	ABCC6	NM_001351800.1(ABCC6):c.1368_1369TC[1]:p.Leu457fs	coding	Pathogenic
16	16188935	CG	C	G16188937C	ABCC6	NM_001171.5(ABCC6):c.1674del:p.Glu559fs	coding	Pathogenic
16	16190189	AC	A	C16190191A	ABCC6	NM_001171.5(ABCC6):c.1609del:p.Val537fs	coding	Pathogenic
16	16190223	G	GC	A16190225C	ABCC6	NM_001171.5(ABCC6):c.1575dup:p.Arg526fs	coding	Pathogenic
16	16190279	TC	T	C16190282A	ABCC6	NM_001171.5(ABCC6):c.1519del:p.Glu507fs	coding	Pathogenic
16	16192847	TC	T	C16192848T	ABCC6	NM_001171.5(ABCC6):c.1413del:p.Arg473fs	coding	Pathogenic
16	16198018	TACCTGCCAGAGATAGACGAAGCAGACCACGATCCAGACGAGAGGCAGCCACAGCCCGTTGAGGTAGAGGACGCTCTCGGTCAGCCGCTGCACGTCCACGGACACCAGATTGACCACATCACCCACCGCACTGGCCTTTCTGGAGCCGCTGGACAGAGCCAGG	T	C16198024G	ABCC6	NM_001171.5(ABCC6):c.1179_1338+2del	noncoding	Pathogenic
16	16202056	AGCCTGTACATGTTCTGCTGCTCAAACAGCGTTT	A	C16202059A	ABCC6	NM_001171.5(ABCC6):c.1088_1120del:p.Gln363_Arg373del	coding	Pathogenic
16	16203406	TCA	T	A16203408C	ABCC6	NM_001171.5(ABCC6):c.998+2_998+3del	noncoding	Pathogenic
16	16203407	CA	C	A16203408C	ABCC6	NM_001171.5(ABCC6):c.998+2del	noncoding	Pathogenic
16	16203445	AC	A	C16203446T	ABCC6	NM_001171.5(ABCC6):c.962del:p.Ser321fs	coding	Pathogenic
16	16203447	TG	T	G16203448A	ABCC6	NM_001171.5(ABCC6):c.960del:p.Ser321fs	coding	Pathogenic
16	16203469	C	CA	G16203471A	ABCC6	NM_001171.5(ABCC6):c.938dup:p.Thr315fs	coding	Pathogenic
16	16203518	CGCCACTGGCTCCCTTCTTGCCGTAG	C	C16203520A	ABCC6	NM_001171.5(ABCC6):c.865_889del:p.Leu289fs	coding	Pathogenic
16	16203615	TGAGGGGAAGGGAGAGATTAGCTCTGGGTCCCATTTTATACTCTCAGCCGCCAGCGGCAGGGCCAGGCATTAAAGGGTTGTTTTCCCAACAGTGGAGATGGGTGGGTGTGGATCTAGCCTGGCTCCCTCA	T	G16203616C	ABCC6	NM_001171.5(ABCC6):c.795-131_795-3del	noncoding	Pathogenic
16	16208812	C	CAG	G16208817A	ABCC6	NM_001351800.1(ABCC6):c.364_365CT[3]:p.Trp123fs	coding	Pathogenic
16	16219577	C	CG	T16219579G	ABCC6	NM_001171.5(ABCC6):c.450dup:p.Ala151fs	coding	Pathogenic
16	16219833	G	GC	A16219836C	ABCC6	NM_001171.5(ABCC6):c.333dup:p.Leu112fs	coding	Pathogenic
16	16219886	AT	A	T16219890C	ABCC6	NM_001171.5(ABCC6):c.280del:p.Ile94fs	coding	Pathogenic
16	16219944	GCAC	G	A16219946T	ABCC6	NM_001171.5(ABCC6):c.220_222del	coding	Pathogenic
16	16221671	G	GA	C16221673A	ABCC6	NM_001351800.1(ABCC6):c.-178dup	coding	Pathogenic
16	16221672	ACATCCGGAGGTAGCCCC	A	C16221673G	ABCC6	NM_001171.5(ABCC6):c.179_195del:p.Arg60fs	coding	Pathogenic
16	16221680	AGGTAGCCCC	A	T16221683C	ABCC6	NM_001351800.1(ABCC6):c.-195_-187del	coding	Pathogenic
16	16221686	CCCCGG	C	C16221689A	ABCC6	NM_001351800.1(ABCC6):c.-197_-193del	coding	Pathogenic
16	16221762	CT	C	T16221763G	ABCC6	NM_001351800.1(ABCC6):c.-269del	coding	Pathogenic
16	16221842	ACAAAGAGGAC	A	A16221844C	ABCC6	NM_001171.5(ABCC6):c.37-21_37-12del	noncoding	Pathogenic
16	17138385	G	GTCAT	G17138391C	XYLT1	NM_022166.4(XYLT1):c.1730_1733dup:p.Asp578delinsGluTer	coding	Pathogenic
16	17138533	T	TGCAGGGGAGAGAGGGACCCAGCCTGA	A17138561C	XYLT1	NM_022166.4(XYLT1):c.1588-28_1588-3dup	noncoding	Benign
16	17470490	CGGGGCCGCCTCCCCGCGCCCGCGCCT	C	G17470497C	XYLT1	NM_022166.4(XYLT1):c.281_306del:p.Gln94fs	coding	Pathogenic
16	17470520	G	GC	G17470526C	XYLT1	NM_022166.4(XYLT1):c.276dup:p.Pro93fs	coding	Pathogenic
16	17470734	CG	C	G17470735C	XYLT1	NM_022166.4(XYLT1):c.62del:p.Ala21fs	coding	Pathogenic
16	18793283	AGTTT	A	G18793288A	ARL6IP1	NM_015161.3(ARL6IP1):c.573_576AAAC[1]:p.Lys193fs	coding	Pathogenic
16	18793378	TA	T	A18793387C	ARL6IP1	NM_015161.3(ARL6IP1):c.494-9del	noncoding	Benign
16	20348745	TGCGCCAGTACTCGTCCAGGGTGCGGTG	T	G20348746C	UMOD	NM_003361.3(UMOD):c.529_555del:p.His177_Arg185del	coding	Pathogenic
16	20349012	CTTCGGGGCAGA	AGGAGGCGG	C20349012A	UMOD	NM_003361.3(UMOD):c.278_289delinsCCGCCTCCT:p.Val93_Gly97delinsAlaAlaSerCys	coding	Pathogenic
16	21145412	AG	A	G21145414T	DNAH3	NM_017539.2(DNAH3):c.223-7del	noncoding	Benign
16	21201368	C	CCCAT	C21201376T	ZP2	NM_003460.2(ZP2):c.1691_1694dup:p.Cys566fs	coding	Pathogenic
16	21697781	CTGCTT	A	C21697781A	OTOA	NM_144672.4(OTOA):c.746_751delinsA:p.Ser249fs	coding	Pathogenic/Likely_pathogenic
16	21697861	AT	A	T21697863A	OTOA	NM_144672.4(OTOA):c.828del:p.Ser277fs	coding	Pathogenic/Likely_pathogenic
16	21719461	TC	T	C21719463A	OTOA	NM_144672.4(OTOA):c.1765del:p.Gln589fs	coding	Pathogenic
16	21971610	CTACCGTGGAGGTA	C	T21971611A	UQCRC2	NM_003366.4(UQCRC2):c.757_766+3del	coding	Pathogenic
16	23186414	G	GCGGC	T23186421G	SCNN1G	NM_001039.4(SCNN1G):c.146_149dup:p.Leu51fs	coding	Pathogenic
16	23215145	TG	T	G23215146T	SCNN1G	NM_001039.4(SCNN1G):c.1627del:p.Val543fs	coding	Pathogenic
16	23215267	AAGCTC	A	A23215268C	SCNN1G	NM_001039.4(SCNN1G):c.1749_1753del:p.Glu583fs	coding	Pathogenic
16	23380661	GC	G	C23380667G	SCNN1B	NM_000336.3(SCNN1B):c.1789del:p.Arg597fs	coding	Pathogenic
16	23380666	C	CCG	A23380670G	SCNN1B	NM_000336.3(SCNN1B):c.1790_1791dup:p.Ser598fs	coding	Pathogenic
16	23445159	C	CA	C23445162A	COG7	NM_153603.4(COG7):c.323dup:p.Leu108fs	coding	Pathogenic
16	23445969	TAAA	T	A23445984C	COG7	NM_153603.4(COG7):c.170-11_170-9del	noncoding	Benign
16	23445969	TAA	T	A23445985C	COG7	NM_153603.4(COG7):c.170-10_170-9del	noncoding	Benign
16	23452807	AG	A	G23452810C	COG7	NM_153603.4(COG7):c.169+18del	noncoding	Benign
16	23523835	CT	C	T23523837A	EARS2	NM_001083614.2(EARS2):c.*535del	noncoding	Benign
16	23523986	CTCTGT	C	C23523988G	EARS2	NM_001083614.2(EARS2):c.*380_*384del	noncoding	Benign
16	23529570	AG	A	G23529573C	EARS2	NM_001083614.2(EARS2):c.1283del:p.Pro428fs	coding	Pathogenic
16	23603476	CAAAT	C	A23603478T	PALB2	NM_024675.3(PALB2):c.3540_3543del:p.Ile1180fs	coding	Pathogenic
16	23603476	CA	C	A23603479T	PALB2	NM_024675.4(PALB2):c.3543del:p.Phe1181fs	coding	Pathogenic
16	23603476	C	CAA	T23603480A	PALB2	NM_024675.3(PALB2):c.3542_3543dup:p.Val1182fs	coding	Pathogenic
16	23603511	TGA	T	A23603515T	PALB2	NM_024675.4(PALB2):c.3505_3506TC[1]:p.His1170fs	coding	Pathogenic/Likely_pathogenic
16	23603521	TAC	T	A23603522C	PALB2	NM_024675.3(PALB2):c.3497_3498del:p.Gly1166fs	coding	Pathogenic
16	23603522	AC	A	C23603525G	PALB2	NM_024675.3(PALB2):c.3497del:p.Gly1166fs	coding	Pathogenic
16	23603543	C	CCAAT	G23603548C	PALB2	NM_024675.3(PALB2):c.3473_3476dup:p.Trp1159Ter	coding	Pathogenic
16	23603563	G	GT	G23603565T	PALB2	NM_024675.3(PALB2):c.3456dup:p.Pro1153fs	coding	Pathogenic
16	23603564	TG	T	G23603567A	PALB2	NM_024675.4(PALB2):c.3455del:p.Pro1152fs	coding	Pathogenic
16	23603590	GAAGT	G	A23603595C	PALB2	NM_024675.4(PALB2):c.3422_3425ACTT[1]:p.Leu1142fs	coding	Pathogenic/Likely_pathogenic
16	23603593	G	GT	A23603595T	PALB2	NM_024675.3(PALB2):c.3426dup:p.Leu1143fs	coding	Pathogenic
16	23603594	TA	T	A23603596G	PALB2	NM_024675.3(PALB2):c.3425del:p.Leu1142fs	coding	Pathogenic/Likely_pathogenic
16	23603614	TTCCAGAAGTC	T	T23603615A	PALB2	NM_024675.3(PALB2):c.3396_3405del:p.Thr1133fs	coding	Pathogenic
16	23603624	CAAGATTGCTGCTGCACAGTGAT	C	A23603625C	PALB2	NM_024675.3(PALB2):c.3374_3395del:p.Asp1125fs	coding	Pathogenic/Likely_pathogenic
16	23603627	GA	G	A23603628T	PALB2	NM_024675.4(PALB2):c.3392del:p.Ile1131fs	coding	Pathogenic
16	23603657	AC	A	C23603659T	PALB2	NM_024675.3(PALB2):c.3362del:p.Gly1121fs	coding	Pathogenic/Likely_pathogenic
16	23603716	AC	A	C23603717A	PALB2	NM_024675.4(PALB2):c.3351-48del	noncoding	Benign
16	23607881	AG	A	G23607883A	PALB2	NM_024675.4(PALB2):c.3332del:p.Pro1111fs	coding	Pathogenic
16	23607890	GT	G	T23607891A	PALB2	NM_024675.3(PALB2):c.3323del:p.Tyr1108fs	coding	Pathogenic
16	23607902	AC	A	C23607905A	PALB2	NM_024675.3(PALB2):c.3311del:p.Gly1104fs	coding	Pathogenic
16	23607904	CCACGCTGAGAGTCGT	ACCACG	C23607904A	PALB2	NM_024675.4(PALB2):c.3295_3310delinsCGTGGT:p.Thr1099fs	coding	Pathogenic
16	23607907	C	CGCTGAGAG	T23607916G	PALB2	NM_024675.3(PALB2):c.3299_3306dup:p.Val1103fs	coding	Pathogenic
16	23607910	TGA	T	A23607914T	PALB2	NM_024675.4(PALB2):c.3302_3303del:p.Leu1101fs	coding	Pathogenic
16	23607912	AGAGTC	A	A23607914T	PALB2	NM_024675.3(PALB2):c.3297_3301del:p.Thr1100fs	coding	Pathogenic
16	23607915	GTCGTC	G	C23607917T	PALB2	NM_024675.4(PALB2):c.3294_3298del:p.Lys1098fs	coding	Pathogenic
16	23607917	CG	C	G23607918T	PALB2	NM_024675.4(PALB2):c.3296del:p.Thr1099fs	coding	Pathogenic
16	23607925	GGTT	TCATTAAC	G23607925T	PALB2	NM_024675.3(PALB2):c.3286_3289delinsGTTAATGA:p.Asn1096fs	coding	Pathogenic/Likely_pathogenic
16	23607945	AAC	A	C23607949G	PALB2	NM_024675.3(PALB2):c.3267_3268delGT	coding	Pathogenic
16	23607950	AG	A	G23607953C	PALB2	NM_024675.4(PALB2):c.3263del:p.Pro1088fs	coding	Pathogenic
16	23607957	CG	C	G23607958C	PALB2	NM_024675.3(PALB2):c.3256del:p.Arg1086fs	coding	Pathogenic/Likely_pathogenic
16	23607958	G	GC	A23607960C	PALB2	NM_024675.4(PALB2):c.3255dup:p.Arg1086fs	coding	Pathogenic
16	23607961	ACGAC	GGCT	A23607961G	PALB2	NM_024675.3(PALB2):c.3249_3253delinsAGCC:p.Ser1084fs	coding	Pathogenic
16	23607966	TCA	T	A23607968T	PALB2	NM_024675.3(PALB2):c.3246_3247del:p.Ser1082fs	coding	Pathogenic
16	23607967	C	CA	C23607969A	PALB2	NM_024675.3(PALB2):c.3246dup:p.Glu1083Ter	coding	Pathogenic
16	23607968	ACT	A	C23607973T	PALB2	NM_024675.4(PALB2):c.3240_3241AG[2]:p.Glu1081_Ser1082insTer	coding	Pathogenic/Likely_pathogenic
16	23607969	C	CTCTCTTTGGCACAGGGA	G23607988C	PALB2	NM_024675.3(PALB2):c.3228_3244dup:p.Ser1082fs	coding	Pathogenic
16	23607973	CTT	C	T23607975G	PALB2	NM_024675.3(PALB2):c.3239_3240del:p.Lys1080fs	coding	Pathogenic/Likely_pathogenic
16	23607985	GA	G	A23607986T	PALB2	NM_024675.3(PALB2):c.3228del:p.Cys1078fs	coding	Pathogenic
16	23613812	GAAAATTTACCAAGCAATCACTGTACCAACACTTATTTTCATCCTAAATTTCAAGAAAGGACAAACATTGCTATCCAATTTTGAAAAAAGATGCCACGGGGAAGGTTTGTTCATTACTGCTTATGACTTACTGCTCTCACTTAATGAGACCAACAGTAACACACAAAGTGGTCCCAGCCAGTCATTACTTACCATTTCAGAATAGGCTTTGTGACAGACTGAAGCTTGGTAAGAATCATCAATGTGCATCTTTTTCAGGAGTTGACCAGTTTTTAAATTCCTTAGATAACAAAAATAAATAAGCTGATCACATTCTTCCAACAAACCAGTTTTCAGAAAATATTTTCTTATTCATCATAGCATGTCTTAGGAGGTGACCAGGGAAAAAACTAAGAGCTCCTTAGTTTTCTTTAGTCATAGATTTAGGTAAAAGTAGAACTGTGGGTTAATTTTGCCAATAGTTTCATTTGATAGTTCAGCCTTAGATTAAATCTACAATGCCCCTAGGGATAAATCTCTCCAAATTCCATGAGGAAGGTTCCATCATCTCATTCAACCTGGTATTGAAATCAGGCACATGGTATAGCAGTATCATGATTTTGTGACACTTCTTGTTATGTCTAAATTTTCCATGGAAGACAACGGCCAGGAAACCAAATTTTGTAGGGCAAGAGACTACACCTAAAAGAGAGTTACAATTATATCTCTATTACATGTATTTATACTACAACTAGACCAAAATAATGGATAGAAGGAAGGATTGAAGTGGGGTAGGAAGAGAGGGGTGAATATAAAGAAGAAAAAAGATAAAGTTTGTTGGAATCACTTCCCAGCTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTGGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTTGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCTGGCCTTTTTTTTTTTTTTTTTTGAGATGGAGTCTCGCTCTGTCACCCAGGCTGAGTGCAGTGGTGCCATCTTGGCTCACTGCAATCTGCACCTCCCAGGTTCCAGCAATTCTTCCACCTCAGCCTTCCAAGTAGCTGGGATTACAGGCACCCACCACCATGCCTGGCTAATTTCTGTATTTTTAGTAGAGGCAGGGTTTCACCAGGTTGGCCAGGCTGGTCTTGAACTCCTGACCGTAGGTGATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCACGAGCCACTGCACCTGACCTGCTCCCCAGCTTTATTGAGGATTTGTGACATTGATAACTGCTTTGTCATGATACTCTATTTTTTTGTTTTTGGAGCTTAGGGTCTCGCTCCATTGCCCAAGCTGGAGTGTGGTGGCGTGATCATGACTCACCGTAGCCTTGACCTCTGAGGCTCAAGCGATCCTCCCACCTCACTGCCCCAAGTAGTTGGGACTACAGCTGCATGCCACCATGCCTGAATAATTTTTTAATTTTTTGTAGAGACAGGGTTTCACTATATTGCCCAGGCTGGTCTTGAACTCCTGGGCTCAAGCAATCCTCCCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGAGACTGCACCTGGTTCATGTTACTCTGTTGATGAAAAACTTTCAGTTGGCTCCCATTAGCCACAACATAAAGTCCAAGTTCTTTTTTTTTTTGAGATGGAGTTTTGTTCTTGTTGCCTAGGCTGGAGTGCAATGGCACAGCCTCGGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCAGGGATTACAGGCAGGCGCCACCACACCCAGCTAATTTTTGTATTTTTAGTAGACACGGGGTACACCATGTCGGCCAGGCTGGTCTCAAACTCCTGACCTCAGGTGATCTACCCGCCTTGGCCTCCCAAAGTGCTGGAATTACAGGCGTGAGCCACCGCGCCCGGTGGTATTTATAACTCTCATGAATCCAGCAGTGCAATATTTACATTATCACTCATTGCTCCATTTCCTGAAATCTTTCTGCCTGAAGAACATATGCATTTCCTTGACTCTAGACTTTGCTCAAGCTATGCTTTCCAATGACCCCTGCTCCCCCAACTCCCTGCCACCCATTACAGAAGAGTTCCCATCCCTGTTACTGACGAATTCCCATCCATTTCTTAGGGCCTAGTTATATCCCACCCCCTCCAAGCTGCATGAACTCACTTGAGACTACAGCAGTCCACAGTCATCTCCTCTCCTTTAATTTTGTCCATATACCTCATTTGGTATGCAATATACTACTGGCAATACTGTATCATGTATTCACTCAACAAATACAGAATTCTATGGGCCAGATACTGTGTATAAAAAACTGAAGAAGGAAAATTAAATTTTTATGTGCATATGCAAAGTTTTCCTCCTATCAGGGACACCAGATGGGTGTCCTACAGAGTTTCATACATGGTCTGTATTTAGTAATTGTTCTTTCCTCAAATCCCAAATCACTTTGACCTTATGTGAATTGTAAAAAGGATTGTACTGAAATTGTAGGCTTTGATGGTAAAGGCATCTTATTTACCTACTAGATTATAGGGGCCCTGGGACCAGGATTCATATCTGATTCATCTCTGCATCTCTCACAGAGAATGGGACATAAGTAGAGACCCAGATACCTACTGAATGTTTGGAAGATATTAAATGAAATGTCTCAGTGAATATGGACAGCAAGACTTCCTTACACACTGGCCCCTCAGTGTTTAAGAATGTTTTAACGTGTTTCTTTGATATGACTTCATTGTAAACATTAAGCTTAAGAAATTTTTTTTTTTTTTTGAGACGGAGTCTCATTGTCGCCCAGGCTGGAGTGCAGTGGCGTGATCTCCGCTCACTGCAAGCTCCACCTCCCGGGTTCATGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCACCCACCACCACGCCTGGCGAATTTTTTGTATTTTTAGTAGAGACGGGGTTTTACCGTGTTAGCCAGGATGGACTCCATCTCCTGACCTCATCGTGATCTGCCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGTGCCCGGCCAAGCTTAAGAAATATTTAGACCTTCAGCATAGTTTCCAAAAAAAGCCACTTGACACTTGAGTATAACATGAATCACTTGAGACATCTAACAAATCAGGAGTTAAATAAGAACAAATACTACATGTAAGTATAAAATTATACAGAGCCCAAAAGATAAGTAACAGCTTTTGACAGACAATATGATTAATACACCTTTGAGTAACTACCCTAAACATGGAGCTAAGGCAGGCACCAAGAATAGATATGAGACATGGTACCTGTCTTCAAAAACGAGAGAGGATAAATAACACAAAGCAGCAAATACTAAATTAAAAATCAAGGCAGGCCAGGTGCGGCAGCTTATGTCTACAATCCCAGCACTTTGGGAGGCTGAGGCGGGAGGATCACTTGCATTGAGGAGTTCACGACCAGTCTAGGCAACATGGGAAGACCCTGTCTCTACAAAAAAAAATTAAAAAAAAAAAAATTTTTTTTTTTTTAATTAGTCA	G	A23613814G	PALB2	NM_024675.4(PALB2):c.3114-3511_3201+191del	noncoding	Pathogenic
16	23614018	CT	C	T23614021G	PALB2	NM_024675.3(PALB2):c.3186del:p.Ala1063fs	coding	Pathogenic
16	23614030	CTGAAG	TGATT	C23614030T	PALB2	NM_024675.4(PALB2):c.3170_3175delinsAATCA:p.Ala1057fs	coding	Pathogenic
16	23614044	GAATC	G	A23614046T	PALB2	NM_024675.3(PALB2):c.3157_3160del:p.Asp1053fs	coding	Pathogenic
16	23614061	CT	C	T23614066C	PALB2	NM_024675.3(PALB2):c.3143del:p.Lys1048fs	coding	Pathogenic
16	23614075	G	GA	C23614077A	PALB2	NM_024675.3(PALB2):c.3129dup:p.Gln1044fs	coding	Pathogenic
16	23614078	CA	C	A23614079G	PALB2	NM_024675.4(PALB2):c.3126del:p.Gly1043fs	coding	Pathogenic
16	23614080	G	GT	A23614086T	PALB2	NM_024675.3(PALB2):c.3124dup:p.Thr1042fs	coding	Pathogenic
16	23614088	AT	A	T23614090C	PALB2	NM_024675.3(PALB2):c.3116del:p.Asn1039fs	coding	Pathogenic/Likely_pathogenic
16	23614090	TC	T	C23614092T	PALB2	NM_024675.3(PALB2):c.3114del	coding	Pathogenic
16	23621382	AATAGTAGT	A	T23621384C	PALB2	NM_024675.3(PALB2):c.3085_3092del:p.Thr1029fs	coding	Pathogenic
16	23621411	T	TCC	T23621415C	PALB2	NM_024675.3(PALB2):c.3062_3063dup:p.Met1022fs	coding	Pathogenic
16	23621426	CA	C	A23621430G	PALB2	NM_024675.3(PALB2):c.3048del:p.Phe1016fs	coding	Pathogenic
16	23621433	T	TA	G23621435A	PALB2	NM_024675.4(PALB2):c.3041dup:p.Thr1015fs	coding	Pathogenic
16	23621435	GTA	G	T23621438G	PALB2	NM_024675.3(PALB2):c.3038_3039delTA	coding	Pathogenic
16	23621447	CA	C	A23621448G	PALB2	NM_024675.3(PALB2):c.3027del:p.Glu1010fs	coding	Pathogenic
16	23621448	AG	A	G23621453C	PALB2	NM_024675.3(PALB2):c.3026del:p.Pro1009fs	coding	Pathogenic
16	23621457	CA	C	A23621462T	PALB2	NM_024675.3(PALB2):c.3017del:p.Phe1005_Leu1006insTer	coding	Pathogenic/Likely_pathogenic
16	23621466	G	GT	C23621471T	PALB2	NM_024675.3(PALB2):c.3008dup:p.Asn1003fs	coding	Pathogenic
16	23621466	GT	G	T23621470C	PALB2	NM_024675.3(PALB2):c.3008del:p.Asn1003fs	coding	Pathogenic
16	23621467	TTTTC	T	C23621471G	PALB2	NM_024675.3(PALB2):c.3004_3007del:p.Glu1002fs	coding	Pathogenic
16	23621474	TGC	GT	T23621474G	PALB2	NM_024675.3(PALB2):c.2999_3001delinsAC:p.Gly1000fs	coding	Pathogenic
16	23621475	GC	G	C23621477T	PALB2	NM_024675.4(PALB2):c.2999del:p.Gly1000fs	coding	Pathogenic
16	23622982	C	CA	C23622986A	PALB2	NM_024675.3(PALB2):c.2982dup:p.Ala995fs	coding	Pathogenic/Likely_pathogenic
16	23622989	C	CAT	G23622992A	PALB2	NM_024675.3(PALB2):c.2974_2975dup:p.Met992fs	coding	Pathogenic/Likely_pathogenic
16	23622998	T	TACTTGTTG	T23623008C	PALB2	NM_024675.3(PALB2):c.2959_2966dup:p.Glu990fs	coding	Pathogenic/Likely_pathogenic
16	23623000	CT	C	T23623002G	PALB2	NM_024675.3(PALB2):c.2964del:p.Gln988_Val989insTer	coding	Pathogenic
16	23623001	TTG	T	G23623003T	PALB2	NM_024675.3(PALB2):c.2962_2963del:p.Gln988fs	coding	Pathogenic
16	23623003	G	GT	G23623006T	PALB2	NM_024675.3(PALB2):c.2961dup:p.Gln988fs	coding	Pathogenic
16	23623011	GA	G	A23623014G	PALB2	NM_024675.4(PALB2):c.2953del:p.Ser985fs	coding	Pathogenic
16	23623014	AG	A	G23623017T	PALB2	NM_024675.4(PALB2):c.2950del:p.Leu984fs	coding	Pathogenic
16	23623026	CT	C	T23623027A	PALB2	NM_024675.3(PALB2):c.2938del:p.Ser980fs	coding	Pathogenic
16	23623028	AC	A	C23623029T	PALB2	NM_024675.3(PALB2):c.2936del:p.Ser979fs	coding	Pathogenic
16	23623033	C	CT	A23623035T	PALB2	NM_024675.3(PALB2):c.2931dup:p.Val978fs	coding	Pathogenic
16	23623040	CCT	C	C23623043T	PALB2	NM_024675.4(PALB2):c.2921_2922AG[1]:p.Arg975fs	coding	Pathogenic
16	23623041	CTCTT	C	C23623043G	PALB2	NM_024675.3(PALB2):c.2920_2923del:p.Lys974fs	coding	Pathogenic
16	23623043	CTT	C	T23623045G	PALB2	NM_024675.3(PALB2):c.2920_2921del:p.Lys974fs	coding	Pathogenic
16	23623049	CA	C	A23623050G	PALB2	NM_024675.3(PALB2):c.2915del:p.Leu972fs	coding	Pathogenic
16	23623076	AG	A	G23623077A	PALB2	NM_024675.3(PALB2):c.2888del:p.Ser963fs	coding	Pathogenic
16	23623086	AG	A	G23623087T	PALB2	NM_024675.3(PALB2):c.2878del:p.Leu960fs	coding	Pathogenic/Likely_pathogenic
16	23623114	AG	A	G23623116A	PALB2	NM_024675.3(PALB2):c.2850del:p.Ser951fs	coding	Pathogenic
16	23623122	AACAAT	A	A23623123G	PALB2	NM_024675.3(PALB2):c.2838_2842del:p.Cys949fs	coding	Pathogenic
16	23623127	TG	T	G23623128C	PALB2	NM_024675.3(PALB2):c.2837del:p.Ala946fs	coding	Pathogenic
16	23623698	CAGTAGAGACACAGTTTCACCATGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAGTTGATCCACCTTCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGCGCCCAGCCTAGGTTCACATTTTAAATAGAAACTTCAGTCAGGGATGTCATTCTATTGATTTTTTTTTAAACAAATCTCTCTCTCTTTAGATCTTTCAGATTCTTTCAAGACTCAAGCCTAGGTTATTACCTGCACTTAAAACCAGCTGACAGAGACAAAGATGAAGGAAAAACAAATCACTCCTTGGGAATTACATACCTGATCTCTCTGATTTCCAAATTTCCCAAAGCTACACACACGAGATTATACACATCAGGCACTGGAACTATCTGTAATACTGGAACCTAAATAAAACAAAGCAGCCAAAAATTATGCTTGGTTGTTTCATTTTTGTTTAATCCAGATTTTCCAAAATTTATCACATTCTTTTGTATTCTCACTGTACAAGGATAATTTTCATCATTTGAAGGCTCAGAAAACTCTTTTTATTAGCTGTAAATCTAAATAAACTATATGCATAATAGCATAATAGTGCTTACTGAGCATTTACCTAATGCAAGGTATAATTCTAACAATAGGGGAATAATTGGGTATATTTTGGCATGTGAATGTAAAGAATATTTATGCAGCCATTTAAAAGTATATCTATGTTCACTGAACAAATATTTATTGGGCACCTCTGTGTAAAGCACAGTGTTAGATGTTGTATATATTTGGAGAGCAAGAATGAGGTATATTCAAGTATGAAGACTCTACAGGAACAAGGAAATTTTTTTTTTTGAGTCGGAGTTTCACTCTTGTTGCCCAGCCTTGAGTGCAATGGCACAATCTCAGCTCATTGCAACTTCCACCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCATTCGCCACCACACCTGGCTAATTTTATTTTTAGGAGAGACGGGGTTTCACCATGTTGGTCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCACCCACCTCAGCCTCTCAAAGTGTTGGGATTACAGGCGTGAGCCACCTCGCCTGGCCAGAAAAATGTTTATATGTATGGTGAGAAAAGACAGATCTAAAAATTTTAAGCACACTAAGATTGCAAGCTTGTAAGATGTATATGATGGTGGGAAAAGACCAGAAGGAAATACATGTAGAAAAGAAGCAAAATAATGCCTTGGTGAAGGGCAAGGAGTACAAATATCAGCAAGTGTCAAAGTCAGAATAGACATAAAATTCTAAGCTCCTCCAACAGGTCTAGTGTAAAAACCCGTCTCTAGGCTGGGTGTAGAGCTCATGCCTGTAACCCCAGCACTTTGGGAAGCCGAGGCGAGTGGATCACTTGAGGTCAGGAGTTAGAGACCATCCTGGCCAACATGGTAAAACCCCATCTCTACTGAAAATACAAAAATTAGCTGGGCGTGGTGGTGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATTGCTTGAACCCGGGAAGCGGAGATTGCAGTAAGCCAAGATCGCCCCACTGCACTCCAGCCTGGGCAACAGAGTATGACTCTCTCTCCAAAAACAAACAAACAAACAAAAAACCCATATCTAGATAAACCTGTGATGGGCTGGGCATGGTGGTTCACACCTGTAATCCCCAGCACTCTGGGAGGCTGAGGCAGGCGGATGGCTTAAGCCCAGGAGTTCAAGACCAGCCCAGGCGACATGGCAAAACCCTGTCTGCATAAAAAATATAGGCCAGGTGTGGTAGCTCACACCTGTAATCCCAGCACTTTGCGAGGCTGAGGCAGGCGGATTGCCTGAGGTCAGGAGTTCAAGAACAGCCTGGGCAACATGGCAAAATCCCGTCTCTACTAAAAATACAAAAAAATTAGCCAGGCATGGTGGTGGGCACCTGTAATCCCAGCTACTCAGGAGGCTGAGGCACAAGAATCCCTTGAACCTGGGCGGCAGAGGTTGACAGTGAGCCGAGATCATGCCACTGCACTCCAGCCTGGGTGACAGAGCAGGACTCCATCTCAATAAAAAGAAGAAGAAAAAAATACAATAAAAAATTAGCCAGACATGGTGGTGCATGCCTGTGGTCCCAGCTACTTGGGAGGGTGAGGTGAGAGGATTACTGAGCCTGGGGAGGTTGAAACTGCAGTGAGCCGTGATCATGCCACTGCACTCCAGCCTGCATGACAGAGTGAGACCCTGTCTCAAACAAACAAACAAAAATTTGTGATAAAGCGAACAAAGCAGGATGTTAATGGTAGAGTCTAGAATGGTGGGTATATGGGTGCTCACTATACAACTTTTCTGGATGTTTGAAACTTTTCATAATAAAATGTTGGGAAAAAAACCTCATCTCTGTTCTGCCTTGCATGGTCATAGCTCCCAATTTTGGTAAGCTGCCCATCTACATTATCAGGCAAATGGCTGCAAAGATCTCTTTCAGCTCGAGATTCCCACTTACCTCTGCGAAGTGCCAGGTATAAAGTTTTTCCCACTGCCAAGCATCCAGAGCTTTCCAAAGAGAAACTACATCTTCGCAAGCAGTTATGATACATGGCTCTTTACAACCGGCTCTTTCCCAAAACATGGCACTCACATCTACGGAACAGGAACCTGAAGGATTCTGACACAATGGCAACAGTTCTGTTAAAGTGGCACTCGAGTGCTGTTTTATGCAAAGCATAAGTATGCAAAGTGATGAATTATAATTCAATGAAACAGTAGGTATGTAAAATTTAAGTCTTATGCAGGTGAAAAGAAAGAGCTTTGTGGTTCTTATGTACCTAAAAAAATGCCTATCAAACTTACATCATGAAAGATTTTATTTTTTATTTATTTTATTAATTTTAATTTTTGGGTGTTTTTGGGACTGAGTCTCACTTTATCACCCAGGCTGGAGTGCAGTGGTGCAATCTCGGCTTACTGCAACCTTCGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTTCCGAGTAGCTAGGATTACAGGCGCCCGCCACCACACCCAGCTAATTTTTGTATTTTT	C	C23623709A	PALB2	NM_024675.4(PALB2):c.2587-404_2834+310del	noncoding	Pathogenic
16	23624010	TG	T	G23624011A	PALB2	NM_024675.3(PALB2):c.2832del:p.Arg945fs	coding	Pathogenic
16	23624012	ATCTC	A	C23624016G	PALB2	NM_024675.4(PALB2):c.2825_2826GA[1]:p.Glu943fs	coding	Pathogenic
16	23624019	TGATTTCCA	T	G23624020A	PALB2	NM_024675.3(PALB2):c.2816_2823del:p.Asn938_Leu939insTer	coding	Pathogenic
16	23624024	TC	T	C23624026A	PALB2	NM_024675.3(PALB2):c.2818del:p.Glu940fs	coding	Pathogenic
16	23624054	TTA	T	T23624057C	PALB2	NM_024675.4(PALB2):c.2785_2786TA[1]:p.Tyr929_Asn930delinsTer	coding	Pathogenic
16	23624069	A	ACTGG	A23624074C	PALB2	NM_024675.4(PALB2):c.2770_2773dup:p.Val925fs	coding	Pathogenic
16	23624069	AC	A	C23624070T	PALB2	NM_024675.4(PALB2):c.2773del:p.Val925fs	coding	Pathogenic
16	23624080	CT	C	T23624081G	PALB2	NM_024675.3(PALB2):c.2762del:p.Gln921fs	coding	Pathogenic
16	23624082	G	GT	A23624084T	PALB2	NM_024675.3(PALB2):c.2760dup:p.Gln921fs	coding	Pathogenic
16	23626231	CTTACCT	C	T23626232C	PALB2	NM_024675.3(PALB2):c.2747_2748+4del	noncoding	Pathogenic/Likely_pathogenic
16	23626241	CG	C	G23626242A	PALB2	NM_024675.4(PALB2):c.2742del:p.Phe914fs	coding	Pathogenic
16	23626255	TAA	T	A23626257G	PALB2	NM_024675.3(PALB2):c.2727_2728del:p.Thr911fs	coding	Pathogenic
16	23626264	TC	T	C23626267A	PALB2	NM_024675.3(PALB2):c.2719del:p.Glu907fs	coding	Pathogenic
16	23626267	CA	C	A23626268C	PALB2	NM_024675.4(PALB2):c.2716del:p.Trp906fs	coding	Pathogenic
16	23626297	G	GA	C23626301A	PALB2	NM_024675.3(PALB2):c.2686dup:p.Ser896fs	coding	Pathogenic/Likely_pathogenic
16	23626338	A	ACAAC	G23626344A	PALB2	NM_024675.3(PALB2):c.2642_2645dup:p.Cys882fs	coding	Pathogenic
16	23626348	CT	C	T23626351C	PALB2	NM_024675.3(PALB2):c.2635del:p.Arg879fs	coding	Pathogenic
16	23626372	TCTACGGAA	T	T23626374A	PALB2	NM_024675.4(PALB2):c.2604_2611del:p.Cys868_Asp871delinsTer	coding	Pathogenic
16	23626376	C	CG	A23626379G	PALB2	NM_024675.3(PALB2):c.2607dup:p.Val870fs	coding	Pathogenic
16	23626376	CG	C	G23626378A	PALB2	NM_024675.3(PALB2):c.2607del:p.Ser869_Val870insTer	coding	Pathogenic/Likely_pathogenic
16	23626386	AC	A	C23626388T	PALB2	NM_024675.3(PALB2):c.2597del:p.Gly866fs	coding	Pathogenic
16	23629228	GTT	G	T23629229G	PALB2	NM_024675.3(PALB2):c.2560_2561del:p.Asn854fs	coding	Pathogenic
16	23629255	AGGAAGCTCTGC	TCTGA	A23629255T	PALB2	NM_024675.3(PALB2):c.2524_2535delinsTCAGA:p.Ala842fs	coding	Pathogenic
16	23629268	GT	G	T23629271C	PALB2	NM_024675.3(PALB2):c.2521del:p.Thr841fs	coding	Pathogenic
16	23629271	TCA	T	C23629272G	PALB2	NM_024675.4(PALB2):c.2517_2518del:p.Glu840fs	coding	Pathogenic
16	23629647	A	AC	G23629649C	PALB2	NM_024675.4(PALB2):c.2506dup:p.Val836fs	coding	Pathogenic
16	23629650	GAATGTTTATGCAGCTCCTGGCA	ATTGTACCTT	G23629650A	PALB2	NM_024675.3(PALB2):c.2482_2504delinsAAGGTACAAT:p.Cys828fs	coding	Pathogenic
16	23629665	TC	T	C23629667T	PALB2	NM_024675.3(PALB2):c.2488del:p.Glu830fs	coding	Pathogenic
16	23629672	ATG	A	G23629676T	PALB2	NM_024675.4(PALB2):c.2478_2479CA[1]:p.Thr827fs	coding	Pathogenic
16	23629674	GT	G	T23629675G	PALB2	NM_024675.4(PALB2):c.2479del:p.Thr827fs	coding	Pathogenic
16	23629683	CA	C	A23629684G	PALB2	NM_024675.3(PALB2):c.2470del:p.Cys824fs	coding	Pathogenic
16	23629683	C	CA	G23629685A	PALB2	NM_024675.3(PALB2):c.2470dup:p.Cys824fs	coding	Pathogenic
16	23629690	GATTTTCTT	G	A23629691T	PALB2	NM_024675.3(PALB2):c.2456_2463del:p.Lys819fs	coding	Pathogenic/Likely_pathogenic
16	23629696	CT	C	T23629699A	PALB2	NM_024675.4(PALB2):c.2457del:p.Glu820fs	coding	Pathogenic
16	23629722	GGA	G	A23629724G	PALB2	NM_024675.3(PALB2):c.2430_2431del:p.Pro811fs	coding	Pathogenic
16	23629741	CAG	C	A23629744T	PALB2	NM_024675.3(PALB2):c.2411_2412delCT	coding	Pathogenic/Likely_pathogenic
16	23629746	TCA	T	C23629749G	PALB2	NM_024675.4(PALB2):c.2406_2407del:p.Cys802_Asp803delinsTer	coding	Pathogenic
16	23629748	AC	A	C23629749A	PALB2	NM_024675.4(PALB2):c.2405del:p.Cys802fs	coding	Pathogenic
16	23629757	GGTAGGTT	G	A23629760C	PALB2	NM_024675.3(PALB2):c.2390_2396del:p.Gln797fs	coding	Pathogenic
16	23629759	T	TAG	G23629762A	PALB2	NM_024675.4(PALB2):c.2393_2394dup:p.Thr799fs	coding	Pathogenic
16	23629760	A	AAG	G23629761A	PALB2	NM_024675.4(PALB2):c.2393_2394insCT:p.Thr799fs	coding	Pathogenic
16	23629762	GT	G	T23629764G	PALB2	NM_024675.3(PALB2):c.2391del:p.Gln797fs	coding	Pathogenic/Likely_pathogenic
16	23629781	CACTT	C	A23629782G	PALB2	NM_024675.4(PALB2):c.2369_2372del:p.Gln790fs	coding	Pathogenic
16	23629795	T	TA	T23629797A	PALB2	NM_024675.4(PALB2):c.2358dup:p.Thr787fs	coding	Pathogenic
16	23629825	CG	C	G23629826A	PALB2	NM_024675.4(PALB2):c.2328del:p.Phe776fs	coding	Pathogenic
16	23629828	A	AT	G23629831T	PALB2	NM_024675.3(PALB2):c.2325dup:p.Phe776fs	coding	Pathogenic
16	23629852	AGACT	A	C23629855G	PALB2	NM_024675.3(PALB2):c.2298_2301del:p.Cys768fs	coding	Pathogenic
16	23629855	C	CT	G23629857T	PALB2	NM_024675.3(PALB2):c.2298dup:p.Val767fs	coding	Pathogenic
16	23629856	TGA	T	A23629858T	PALB2	NM_024675.3(PALB2):c.2296_2297del:p.Val767fs	coding	Pathogenic
16	23629858	AG	A	G23629859T	PALB2	NM_024675.4(PALB2):c.2295del:p.Ser766fs	coding	Pathogenic
16	23629862	TTTCA	T	T23629863A	PALB2	NM_024675.3(PALB2):c.2288_2291del:p.His762_Leu763insTer	coding	Pathogenic/Likely_pathogenic
16	23629870	G	GAGCAAGTTGGGGTGTGC	C23629896G	PALB2	NM_024675.3(PALB2):c.2267_2283dup:p.His762fs	coding	Pathogenic/Likely_pathogenic
16	23629873	CA	C	A23629875G	PALB2	NM_024675.3(PALB2):c.2280del:p.Ala761fs	coding	Pathogenic
16	23629878	TG	T	G23629882T	PALB2	NM_024675.3(PALB2):c.2275del:p.Gln759fs	coding	Pathogenic
16	23629886	G	GCAGCAAGTTCGTC	C23629906G	PALB2	NM_024675.3(PALB2):c.2255_2267dup:p.Cys756fs	coding	Pathogenic
16	23629918	CT	C	T23629923C	PALB2	NM_024675.4(PALB2):c.2235del:p.Ala746fs	coding	Pathogenic
16	23629930	AG	C	A23629930C	PALB2	NM_024675.3(PALB2):c.2223_2224delinsG:p.Ser742fs	coding	Pathogenic
16	23629933	CT	C	T23629935G	PALB2	NM_024675.4(PALB2):c.2220del:p.Gly741fs	coding	Pathogenic
16	23629933	CTT	C	T23629934G	PALB2	NM_024675.3(PALB2):c.2219_2220del:p.Gln740fs	coding	Pathogenic
16	23629948	CT	C	T23629949G	PALB2	NM_024675.3(PALB2):c.2205del:p.Ala736fs	coding	Pathogenic
16	23629953	GTAGTACC	G	G23629956A	PALB2	NM_024675.3(PALB2):c.2194_2200del:p.Gly732fs	coding	Pathogenic
16	23629966	TGG	T	G23629969A	PALB2	NM_024675.3(PALB2):c.2186_2187del:p.Pro729fs	coding	Pathogenic
16	23629966	TG	T	G23629970A	PALB2	NM_024675.4(PALB2):c.2187del:p.Ile730fs	coding	Pathogenic
16	23629968	G	GT	G23629969T	PALB2	NM_024675.3(PALB2):c.2185_2186insA:p.Pro729fs	coding	Pathogenic
16	23629977	GGT	G	T23629979A	PALB2	NM_024675.3(PALB2):c.2175_2176del:p.Pro726fs	coding	Pathogenic
16	23629985	CAT	C	A23629986G	PALB2	NM_024675.3(PALB2):c.2167_2168del:p.Met723fs	coding	Pathogenic
16	23629992	GT	G	T23629993G	PALB2	NM_024675.4(PALB2):c.2161del:p.Thr721fs	coding	Pathogenic
16	23629993	T	TC	G23629994C	PALB2	NM_024675.3(PALB2):c.2160_2161insG:p.Thr721fs	coding	Pathogenic
16	23629997	AG	A	G23629999C	PALB2	NM_024675.3(PALB2):c.2156del:p.Pro719fs	coding	Pathogenic/Likely_pathogenic
16	23630007	TTA	T	A23630009C	PALB2	NM_024675.3(PALB2):c.2145_2146del:p.Asp715fs	coding	Pathogenic
16	23630011	C	CTTA	A23630012T	PALB2	NM_024675.3(PALB2):c.2142_2143insTAA:p.Asp715Ter	coding	Pathogenic
16	23630033	AG	A	G23630035A	PALB2	NM_024675.3(PALB2):c.2120del:p.Pro707fs	coding	Pathogenic
16	23630043	AGTAATATGGAT	A	T23630045A	PALB2	NM_024675.3(PALB2):c.2100_2110del:p.Ser701fs	coding	Pathogenic
16	23630061	AG	A	G23630063C	PALB2	NM_024675.3(PALB2):c.2092del:p.Leu698fs	coding	Pathogenic
16	23630074	TA	T	A23630075T	PALB2	NM_024675.3(PALB2):c.2079del:p.His693fs	coding	Pathogenic
16	23630097	CT	C	T23630101G	PALB2	NM_024675.3(PALB2):c.2056del:p.Arg686fs	coding	Pathogenic
16	23630101	TG	T	G23630104A	PALB2	NM_024675.3(PALB2):c.2052del:p.Arg686fs	coding	Pathogenic
16	23630105	AT	A	T23630106G	PALB2	NM_024675.4(PALB2):c.2048del:p.His683fs	coding	Pathogenic
16	23630121	AG	A	G23630122A	PALB2	NM_024675.3(PALB2):c.2032del:p.Leu678fs	coding	Pathogenic
16	23630133	TC	T	C23630135T	PALB2	NM_024675.4(PALB2):c.2020del:p.Asp674fs	coding	Pathogenic
16	23630137	C	CA	T23630138A	PALB2	NM_024675.4(PALB2):c.2016_2017insT:p.Glu673Ter	coding	Pathogenic
16	23630137	C	CT	C23630140T	PALB2	NM_024675.4(PALB2):c.2016dup:p.Glu673fs	coding	Pathogenic
16	23630139	TC	T	C23630140T	PALB2	NM_024675.4(PALB2):c.2014del:p.Glu672fs	coding	Pathogenic
16	23630147	CT	C	T23630148C	PALB2	NM_024675.3(PALB2):c.2006del:p.Glu669fs	coding	Pathogenic
16	23630151	AT	A	T23630154C	PALB2	NM_024675.3(PALB2):c.2002del:p.Met668fs	coding	Pathogenic
16	23630163	AT	A	T23630164G	PALB2	NM_024675.4(PALB2):c.1990del:p.Met664fs	coding	Pathogenic
16	23630165	G	GC	G23630167C	PALB2	NM_024675.4(PALB2):c.1988dup:p.Met664fs	coding	Pathogenic
16	23630172	G	GGACTCAGTTCCTC	T23630186G	PALB2	NM_024675.4(PALB2):c.1969_1981dup:p.Pro661fs	coding	Pathogenic
16	23630181	TC	T	C23630183T	PALB2	NM_024675.3(PALB2):c.1972del:p.Glu658fs	coding	Pathogenic
16	23630187	G	GGAAAAATACAGCTTCCTCT	C23630204T	PALB2	NM_024675.3(PALB2):c.1966_1967insAGAGGAAGCTGTATTTTTC:p.Pro656fs	coding	Pathogenic
16	23630188	GA	G	A23630193T	PALB2	NM_024675.4(PALB2):c.1965del:p.Pro656fs	coding	Pathogenic
16	23630188	G	GA	T23630194A	PALB2	NM_024675.4(PALB2):c.1965dup:p.Pro656fs	coding	Pathogenic
16	23630204	CTCTT	C	C23630206A	PALB2	NM_024675.4(PALB2):c.1946_1949del:p.Lys649fs	coding	Pathogenic
16	23630206	C	CT	A23630210T	PALB2	NM_024675.3(PALB2):c.1947dup:p.Glu650fs	coding	Pathogenic/Likely_pathogenic
16	23630209	TAAG	GTT	T23630209G	PALB2	NM_024675.4(PALB2):c.1942_1945delinsAAC:p.Leu648fs	coding	Pathogenic
16	23630214	T	TA	G23630215A	PALB2	NM_024675.4(PALB2):c.1939_1940insT:p.His647fs	coding	Pathogenic
16	23630215	G	GTC	C23630224T	PALB2	NM_024675.3(PALB2):c.1931_1932GA[5]:p.His647fs	coding	Pathogenic
16	23630224	CAAACATTTTTGACTCA	C	A23630227G	PALB2	NM_024675.3(PALB2):c.1914_1929del:p.Phe638fs	coding	Pathogenic
16	23630229	AT	A	T23630234G	PALB2	NM_024675.3(PALB2):c.1924del:p.Met642fs	coding	Pathogenic/Likely_pathogenic
16	23630239	CA	C	A23630242G	PALB2	NM_024675.3(PALB2):c.1914del:p.Phe638fs	coding	Pathogenic
16	23630262	GAGCAGGACTTCACTTTTTCA	G	A23630266T	PALB2	NM_024675.4(PALB2):c.1872_1891del:p.Glu625fs	coding	Pathogenic
16	23630272	TCA	T	A23630274T	PALB2	NM_024675.4(PALB2):c.1880_1881del:p.Val627fs	coding	Pathogenic
16	23630280	TC	T	C23630281A	PALB2	NM_024675.3(PALB2):c.1873del:p.Glu625fs	coding	Pathogenic
16	23630296	CA	C	A23630299G	PALB2	NM_024675.4(PALB2):c.1857del:p.Phe619fs	coding	Pathogenic
16	23630305	C	CA	T23630307A	PALB2	NM_024675.4(PALB2):c.1848dup:p.Glu617Ter	coding	Pathogenic
16	23630329	T	TA	C23630331A	PALB2	NM_024675.4(PALB2):c.1824dup:p.Ile609fs	coding	Pathogenic
16	23630335	GAA	G	A23630338G	PALB2	NM_024675.3(PALB2):c.1817_1818del:p.Phe606fs	coding	Pathogenic
16	23630350	GC	G	C23630351T	PALB2	NM_024675.4(PALB2):c.1803del:p.Lys601fs	coding	Pathogenic
16	23630358	CT	C	T23630359C	PALB2	NM_024675.3(PALB2):c.1795del:p.Ser599fs	coding	Pathogenic
16	23630364	AT	A	T23630366C	PALB2	NM_024675.3(PALB2):c.1789del:p.Met597fs	coding	Pathogenic/Likely_pathogenic
16	23630377	G	GA	T23630381A	PALB2	NM_024675.4(PALB2):c.1776dup:p.His593fs	coding	Pathogenic
16	23630382	GGAGCCGT	G	G23630385A	PALB2	NM_024675.3(PALB2):c.1765_1771del:p.Thr589fs	coding	Pathogenic
16	23630400	TC	T	C23630401A	PALB2	NM_024675.3(PALB2):c.1753del:p.Asp585fs	coding	Pathogenic/Likely_pathogenic
16	23630402	AT	A	T23630403C	PALB2	NM_024675.4(PALB2):c.1751del:p.Asp584fs	coding	Pathogenic
16	23630409	GATAA	G	A23630414G	PALB2	NM_024675.3(PALB2):c.1741_1744delTTAT	coding	Pathogenic/Likely_pathogenic
16	23630411	TA	T	A23630414T	PALB2	NM_024675.3(PALB2):c.1742del:p.Leu581fs	coding	Pathogenic
16	23630443	CCT	C	C23630446T	PALB2	NM_024675.3(PALB2):c.1709_1710delAG	coding	Pathogenic
16	23630446	CTT	C	T23630450G	PALB2	NM_024675.3(PALB2):c.1706_1707del:p.Lys569fs	coding	Pathogenic
16	23630446	CTTTT	C	T23630448G	PALB2	NM_024675.3(PALB2):c.1704_1707del:p.Lys569fs	coding	Pathogenic
16	23630467	TC	T	C23630470T	PALB2	NG_007406.1:g.15890del	coding	Pathogenic
16	23634868	CT	C	T23634870G	PALB2	NM_024675.3(PALB2):c.1677del:p.Gln559_Val560insTer	coding	Pathogenic
16	23634869	TT	C	T23634869C	PALB2	NM_024675.3(PALB2):c.1676_1677delinsG:p.Gln559fs	coding	Pathogenic
16	23634870	TG	CA	T23634870C	PALB2	NM_024675.3(PALB2):c.1675_1676inv:p.Gln559Ter	coding	Pathogenic
16	23634871	GAATA	G	A23634877T	PALB2	NM_024675.4(PALB2):c.1667_1670TATT[1]:p.Ile558fs	coding	Pathogenic
16	23634892	GA	G	A23634893T	PALB2	NM_024675.3(PALB2):c.1653del:p.Gln552fs	coding	Pathogenic
16	23634893	A	AT	A23634895T	PALB2	NM_024675.3(PALB2):c.1652dup:p.Tyr551Ter	coding	Pathogenic
16	23634897	TTG	T	T23634902A	PALB2	NM_024675.3(PALB2):c.1647_1648delCA	coding	Pathogenic
16	23634910	CT	C	T23634912C	PALB2	NM_024675.4(PALB2):c.1635del:p.Val546fs	coding	Pathogenic
16	23634926	G	GT	A23634929T	PALB2	NM_024675.3(PALB2):c.1619dup:p.Asn540fs	coding	Pathogenic
16	23634926	GTTAACAA	G	T23634928C	PALB2	NM_024675.4(PALB2):c.1613_1619del:p.Ile538fs	coding	Pathogenic
16	23634928	T	TAA	C23634931A	PALB2	NM_024675.3(PALB2):c.1616_1617dup:p.Asn540fs	coding	Pathogenic
16	23634945	GAAGTTGGCAA	G	T23634950G	PALB2	NM_024675.3(PALB2):c.1591_1600del:p.Pro532fs	coding	Pathogenic
16	23634953	CAA	C	A23634956G	PALB2	NM_024675.3(PALB2):c.1591_1592del:p.Leu531fs	coding	Pathogenic
16	23634953	CA	C	A23634957G	PALB2	NM_024675.3(PALB2):c.1592del:p.Leu531fs	coding	Pathogenic
16	23634980	TG	T	G23634984T	PALB2	NM_024675.3(PALB2):c.1565del:p.Pro522fs	coding	Pathogenic
16	23634993	GAT	G	A23634994T	PALB2	NM_024675.3(PALB2):c.1551_1552del:p.Lys517fs	coding	Pathogenic
16	23634994	AT	A	T23634998C	PALB2	NM_024675.4(PALB2):c.1551del:p.Lys517fs	coding	Pathogenic
16	23634999	C	CT	C23635005T	PALB2	NM_024675.3(PALB2):c.1546dup:p.Arg516fs	coding	Pathogenic
16	23634999	CT	C	T23635004C	PALB2	NM_024675.3(PALB2):c.1546del:p.Arg516fs	coding	Pathogenic
16	23635006	C	CT	G23635008T	PALB2	NM_024675.4(PALB2):c.1539dup:p.Gly514fs	coding	Pathogenic
16	23635007	TG	T	G23635008T	PALB2	NM_024675.3(PALB2):c.1538del:p.Thr513fs	coding	Pathogenic/Likely_pathogenic
16	23635010	G	GT	A23635012T	PALB2	NM_024675.4(PALB2):c.1535dup:p.Tyr512Ter	coding	Pathogenic
16	23635055	AT	A	T23635057A	PALB2	NM_024675.3(PALB2):c.1490del:p.Asn497fs	coding	Pathogenic/Likely_pathogenic
16	23635060	CT	C	T23635062C	PALB2	NM_024675.3(PALB2):c.1485del:p.Asp496fs	coding	Pathogenic/Likely_pathogenic
16	23635066	TG	T	G23635069C	PALB2	NM_024675.3(PALB2):c.1479del:p.Thr494fs	coding	Pathogenic
16	23635076	GGG	TGACTTTAGTTAA	G23635076T	PALB2	NM_024675.4(PALB2):c.1468_1470delinsTTAACTAAAGTCA:p.Pro490fs	coding	Pathogenic
16	23635080	GA	G	A23635081G	PALB2	NM_024675.3(PALB2):c.1465del:p.Ser489fs	coding	Pathogenic
16	23635094	TA	T	A23635096T	PALB2	NM_024675.4(PALB2):c.1451del:p.Ser483_Leu484insTer	coding	Pathogenic
16	23635097	TGA	T	G23635102A	PALB2	NM_024675.4(PALB2):c.1447_1448del:p.Ser483fs	coding	Pathogenic
16	23635105	GT	G	T23635108C	PALB2	NM_024675.3(PALB2):c.1440del:p.Lys480fs	coding	Pathogenic
16	23635107	TTC	T	C23635109G	PALB2	NM_024675.3(PALB2):c.1437_1438del:p.Lys480fs	coding	Pathogenic
16	23635114	AG	A	G23635116T	PALB2	NM_024675.3(PALB2):c.1431del:p.Ser478fs	coding	Pathogenic
16	23635116	GT	G	T23635118C	PALB2	NM_024675.3(PALB2):c.1429del:p.Thr477fs	coding	Pathogenic
16	23635120	T	TA	T23635121A	PALB2	NM_024675.3(PALB2):c.1425_1426insT:p.Arg476Ter	coding	Pathogenic
16	23635121	TG	T	G23635122A	PALB2	NM_024675.3(PALB2):c.1424del:p.Ser474_Ser475insTer	coding	Pathogenic
16	23635121	T	TG	A23635123G	PALB2	NM_024675.4(PALB2):c.1424dup:p.Arg476fs	coding	Pathogenic/Likely_pathogenic
16	23635146	C	CCAGA	T23635153G	PALB2	NM_024675.4(PALB2):c.1396_1399dup:p.Gly467fs	coding	Pathogenic
16	23635183	TG	T	G23635185A	PALB2	NM_024675.3(PALB2):c.1362del:p.Asn455fs	coding	Pathogenic
16	23635193	T	TA	T23635197A	PALB2	NM_024675.4(PALB2):c.1352dup:p.Leu451fs	coding	Pathogenic
16	23635196	AT	A	T23635201A	PALB2	NM_024675.4(PALB2):c.1349del:p.Asn450fs	coding	Pathogenic
16	23635228	AC	A	C23635231T	PALB2	NM_024675.3(PALB2):c.1317del:p.Phe440fs	coding	Pathogenic
16	23635231	CT	C	T23635237C	PALB2	NM_024675.3(PALB2):c.1314del:p.Phe440fs	coding	Pathogenic
16	23635253	ACT	A	C23635256G	PALB2	NM_024675.3(PALB2):c.1291_1292delAG	coding	Pathogenic
16	23635269	T	TC	A23635272C	PALB2	NM_024675.3(PALB2):c.1276dup:p.Glu426fs	coding	Pathogenic
16	23635279	CT	C	T23635282C	PALB2	NM_024675.3(PALB2):c.1266del:p.Lys422_Val423insTer	coding	Pathogenic/Likely_pathogenic
16	23635297	AC	A	C23635298A	PALB2	NM_024675.4(PALB2):c.1248del:p.Met416fs	coding	Pathogenic
16	23635319	A	AT	A23635321T	PALB2	NM_024675.4(PALB2):c.1226dup:p.Tyr409Ter	coding	Pathogenic
16	23635329	GC	G	C23635330A	PALB2	NM_024675.3(PALB2):c.1216del:p.Ala406fs	coding	Pathogenic
16	23635333	G	GA	C23635337A	PALB2	NM_024675.3(PALB2):c.1212dup:p.Pro405fs	coding	Pathogenic
16	23635339	GA	G	A23635341G	PALB2	NM_024675.3(PALB2):c.1206del:p.Leu403fs	coding	Pathogenic
16	23635353	AC	A	C23635354T	PALB2	NM_024675.3(PALB2):c.1192del:p.Val398fs	coding	Pathogenic
16	23635354	CTG	C	T23635357C	PALB2	NM_024675.3(PALB2):c.1190_1191delCA	coding	Pathogenic
16	23635359	C	CA	G23635362A	PALB2	NM_024675.3(PALB2):c.1186dup:p.Cys396fs	coding	Pathogenic
16	23635362	GA	G	A23635364T	PALB2	NM_024675.3(PALB2):c.1183del:p.Ser395fs	coding	Pathogenic/Likely_pathogenic
16	23635366	GT	G	T23635371C	PALB2	NM_024675.3(PALB2):c.1179del:p.Lys393fs	coding	Pathogenic
16	23635377	G	GA	G23635381A	PALB2	NM_024675.4(PALB2):c.1168dup:p.Ser390fs	coding	Pathogenic
16	23635382	A	AG	A23635385G	PALB2	NM_024675.3(PALB2):c.1163dup:p.Leu389fs	coding	Pathogenic/Likely_pathogenic
16	23635382	AG	A	G23635384A	PALB2	NM_024675.3(PALB2):c.1163del:p.Pro388fs	coding	Pathogenic
16	23635384	GA	G	A23635385G	PALB2	NM_024675.4(PALB2):c.1161del:p.Pro388fs	coding	Pathogenic
16	23635389	G	GT	G23635392T	PALB2	NM_024675.4(PALB2):c.1156dup:p.Thr386fs	coding	Pathogenic
16	23635389	GT	G	T23635391G	PALB2	NM_024675.4(PALB2):c.1156del:p.Thr386fs	coding	Pathogenic
16	23635393	CT	C	T23635395C	PALB2	NM_024675.3(PALB2):c.1152del:p.Ala385fs	coding	Pathogenic
16	23635402	TAAGA	T	A23635403C	PALB2	NM_024675.3(PALB2):c.1140_1143del:p.Ser380fs	coding	Pathogenic
16	23635406	ACT	A	C23635409T	PALB2	NM_024675.3(PALB2):c.1138_1139delAG	coding	Pathogenic
16	23635431	C	CT	C23635435T	PALB2	NM_024675.3(PALB2):c.1114dup:p.Ser372fs	coding	Pathogenic
16	23635442	A	AT	C23635447T	PALB2	NM_024675.4(PALB2):c.1103dup:p.Asn368fs	coding	Pathogenic
16	23635442	AT	A	T23635446C	PALB2	NM_024675.3(PALB2):c.1103del:p.Asn368fs	coding	Pathogenic/Likely_pathogenic
16	23635459	CAA	C	A23635460G	PALB2	NM_024675.3(PALB2):c.1085_1086del:p.Leu362fs	coding	Pathogenic
16	23635460	AAG	A	A23635463T	PALB2	NM_024675.3(PALB2):c.1084_1085delCT	coding	Pathogenic
16	23635469	ACTGGGAGATTTTAAAGAT	CC	A23635469C	PALB2	NM_024675.3(PALB2):c.1059_1077delinsGG:p.Ser354fs	coding	Pathogenic
16	23635473	GGA	G	G23635476T	PALB2	NM_024675.3(PALB2):c.1071_1072delTC	coding	Pathogenic
16	23635481	TA	T	A23635484G	PALB2	NM_024675.3(PALB2):c.1064del:p.Ser354_Leu355insTer	coding	Pathogenic
16	23635486	AT	A	T23635489C	PALB2	NM_024675.3(PALB2):c.1059del:p.Lys353fs	coding	Pathogenic/Likely_pathogenic
16	23635488	TTC	T	C23635492G	PALB2	NM_024675.4(PALB2):c.1054_1055GA[1]:p.Lys353fs	coding	Pathogenic
16	23635492	CTGTT	C	T23635495A	PALB2	NM_024675.3(PALB2):c.1050_1053del:p.Thr351fs	coding	Pathogenic
16	23635495	TT	AGA	T23635495A	PALB2	NM_024675.3(PALB2):c.1050_1051delinsTCT:p.Gln350fs	coding	Pathogenic
16	23635495	TTTGA	T	G23635498T	PALB2	NM_024675.3(PALB2):c.1047_1050del:p.Asn349fs	coding	Pathogenic
16	23635499	AT	A	T23635503G	PALB2	NM_024675.3(PALB2):c.1046del:p.Asn349fs	coding	Pathogenic
16	23635503	TG	T	G23635504T	PALB2	NM_024675.4(PALB2):c.1042del:p.Gln348fs	coding	Pathogenic
16	23635504	GTTCT	G	C23635507T	PALB2	NM_024675.4(PALB2):c.1038_1041del:p.Lys346fs	coding	Pathogenic
16	23635504	GTTCTT	G	C23635507A	PALB2	NM_024675.3(PALB2):c.1037_1041del:p.Lys346fs	coding	Pathogenic
16	23635504	GTTC	TTTTTT	G23635504T	PALB2	NM_024675.3(PALB2):c.1039_1042delinsAAAAAA:p.Glu347fs	coding	Pathogenic
16	23635507	CT	C	T23635511A	PALB2	NM_024675.4(PALB2):c.1038del:p.Glu347fs	coding	Pathogenic
16	23635507	CTT	C	T23635510A	PALB2	NM_024675.3(PALB2):c.1037_1038del:p.Lys346fs	coding	Pathogenic
16	23635512	A	AAG	T23635515A	PALB2	NM_024675.3(PALB2):c.1032_1033dup:p.Leu345fs	coding	Pathogenic
16	23635514	GT	G	T23635518G	PALB2	NM_024675.3(PALB2):c.1031del:p.Asn344fs	coding	Pathogenic
16	23635532	TGGTAAGTTATTGTA	T	A23635536G	PALB2	NM_024675.4(PALB2):c.1000_1013del:p.Tyr334fs	coding	Pathogenic
16	23635535	TA	T	A23635537G	PALB2	NM_024675.4(PALB2):c.1010del:p.Leu337fs	coding	Pathogenic
16	23635536	AAG	A	A23635537T	PALB2	NM_024675.3(PALB2):c.1008_1009del:p.Leu337fs	coding	Pathogenic
16	23635549	TGA	T	A23635551T	PALB2	NM_024675.3(PALB2):c.995_996del:p.Leu332fs	coding	Pathogenic
16	23635559	TAG	T	G23635563A	PALB2	NM_024675.3(PALB2):c.985_986delCT	coding	Pathogenic
16	23635569	G	GA	T23635573A	PALB2	NM_024675.3(PALB2):c.976dup:p.Ser326fs	coding	Pathogenic
16	23635583	TAAATTAG	T	A23635586C	PALB2	NM_024675.3(PALB2):c.956_962del:p.Ser318_Ser319insTer	coding	Pathogenic
16	23635591	AAC	A	A23635592T	PALB2	NM_024675.3(PALB2):c.953_954del:p.Ser318fs	coding	Pathogenic
16	23635597	TG	T	G23635600C	PALB2	NM_024675.3(PALB2):c.948del:p.Thr317fs	coding	Pathogenic
16	23635611	CT	C	T23635615A	PALB2	NM_024675.4(PALB2):c.934del:p.Ser312fs	coding	Pathogenic
16	23635613	T	TG	T23635614G	PALB2	NM_024675.3(PALB2):c.932_933insC:p.Lys311fs	coding	Pathogenic
16	23635638	AGGTTATC	A	G23635639T	PALB2	NM_024675.3(PALB2):c.901_907del:p.Asp301fs	coding	Pathogenic/Likely_pathogenic
16	23635640	GT	G	T23635642A	PALB2	NM_024675.3(PALB2):c.905del:p.Asn302fs	coding	Pathogenic
16	23635646	TG	T	G23635647T	PALB2	NM_024675.3(PALB2):c.899del:p.Thr300fs	coding	Pathogenic
16	23635648	TAG	T	G23635652C	PALB2	NM_024675.4(PALB2):c.896_897del:p.Ser299fs	coding	Pathogenic
16	23635659	A	AT	G23635667T	PALB2	NM_024675.3(PALB2):c.886dup:p.Met296fs	coding	Pathogenic
16	23635659	AT	A	T23635666G	PALB2	NM_024675.3(PALB2):c.886del:p.Lys295_Met296insTer	coding	Pathogenic
16	23635660	T	TC	T23635661C	PALB2	NM_024675.4(PALB2):c.885_886insG:p.Met296fs	coding	Pathogenic
16	23635685	T	TA	C23635687A	PALB2	NM_024675.3(PALB2):c.860dup:p.Ser288fs	coding	Pathogenic/Likely_pathogenic
16	23635695	G	GT	A23635697T	PALB2	NM_024675.3(PALB2):c.850dup:p.Thr284fs	coding	Pathogenic
16	23635698	AATCT	A	T23635700A	PALB2	NM_024675.3(PALB2):c.844_847del:p.Arg282fs	coding	Pathogenic
16	23635705	TG	T	G23635706T	PALB2	NM_024675.4(PALB2):c.840del:p.Asn280fs	coding	Pathogenic
16	23635706	G	GA	T23635707A	PALB2	NM_024675.4(PALB2):c.839_840insT:p.Ile281fs	coding	Pathogenic
16	23635706	GT	G	T23635712A	PALB2	NM_024675.3(PALB2):c.839del:p.Asn280fs	coding	Pathogenic
16	23635713	AG	A	G23635715T	PALB2	NM_024675.4(PALB2):c.832del:p.Asp277_Leu278insTer	coding	Pathogenic
16	23635717	CGTGAGTAGTAAGTTCACTG	C	G23635718C	PALB2	NM_024675.3(PALB2):c.810_828del:p.Ser270fs	coding	Pathogenic
16	23635725	G	GT	A23635727T	PALB2	NM_024675.3(PALB2):c.820dup:p.Thr274fs	coding	Pathogenic/Likely_pathogenic
16	23635743	T	TTA	G23635746T	PALB2	NM_024675.3(PALB2):c.801_802dup:p.Lys268fs	coding	Pathogenic/Likely_pathogenic
16	23635759	CA	C	A23635761G	PALB2	NM_024675.3(PALB2):c.786del:p.Glu263fs	coding	Pathogenic
16	23635762	GGT	G	T23635764C	PALB2	NM_024675.4(PALB2):c.782_783del:p.His261fs	coding	Pathogenic
16	23635786	A	AT	A23635788T	PALB2	NM_024675.4(PALB2):c.759dup:p.Ser254fs	coding	Pathogenic
16	23635786	AT	A	T23635787A	PALB2	NM_024675.3(PALB2):c.759del:p.Ser254fs	coding	Pathogenic/Likely_pathogenic
16	23635787	TAG	T	A23635790T	PALB2	NM_024675.4(PALB2):c.755_756CT[1]:p.Leu253fs	coding	Pathogenic
16	23635787	T	TA	G23635789A	PALB2	NM_024675.3(PALB2):c.758dup:p.Ser254fs	coding	Pathogenic/Likely_pathogenic
16	23635789	G	GA	G23635791A	PALB2	NM_024675.4(PALB2):c.756dup:p.Leu253fs	coding	Pathogenic
16	23635796	TAAAGG	T	A23635799C	PALB2	NM_024675.3(PALB2):c.745_749del:p.Pro249fs	coding	Pathogenic
16	23635810	T	TCG	C23635814G	PALB2	NM_024675.3(PALB2):c.734_735dup:p.Thr246fs	coding	Pathogenic
16	23635819	T	TTCTACAGACCTAA	G23635820T	PALB2	NM_024675.4(PALB2):c.726_727insTTAGGTCTGTAGA:p.Thr243delinsLeuGlyLeuTer	coding	Pathogenic
16	23635830	CT	C	T23635832C	PALB2	NM_024675.3(PALB2):c.715del:p.Arg239fs	coding	Pathogenic
16	23635838	G	GA	T23635841A	PALB2	NM_024675.3(PALB2):c.707dup:p.Leu237fs	coding	Pathogenic/Likely_pathogenic
16	23635842	G	GT	A23635844T	PALB2	NM_024675.4(PALB2):c.703dup:p.Thr235fs	coding	Pathogenic
16	23635848	AC	A	C23635849A	PALB2	NM_024675.3(PALB2):c.697del:p.Val233fs	coding	Pathogenic
16	23635849	C	CA	C23635851A	PALB2	NM_024675.4(PALB2):c.696dup:p.Val233fs	coding	Pathogenic
16	23635850	AC	A	C23635852T	PALB2	NM_024675.3(PALB2):c.695del:p.Gly232fs	coding	Pathogenic
16	23635852	CT	C	T23635857C	PALB2	NM_024675.3(PALB2):c.693del:p.Gly232fs	coding	Pathogenic
16	23635863	TG	T	G23635866C	PALB2	NM_024675.4(PALB2):c.682del:p.Gln228fs	coding	Pathogenic
16	23635871	T	TG	T23635874G	PALB2	NM_024675.4(PALB2):c.674dup:p.Thr226fs	coding	Pathogenic
16	23635878	AT	A	T23635880A	PALB2	NM_024675.3(PALB2):c.667del:p.Ile223fs	coding	Pathogenic
16	23635884	AC	TA	A23635884T	PALB2	NM_024675.3(PALB2):c.661_662delinsTA:p.Val221Ter	coding	Pathogenic
16	23635887	CT	C	T23635888G	PALB2	NM_024675.3(PALB2):c.658del:p.Ser220fs	coding	Pathogenic
16	23635889	GTC	G	C23635891T	PALB2	NM_024675.3(PALB2):c.655_656del:p.Asp219fs	coding	Pathogenic
16	23635891	CT	C	T23635893C	PALB2	NM_024675.3(PALB2):c.654del:p.Asp219fs	coding	Pathogenic
16	23635899	AT	A	T23635902C	PALB2	NM_024675.4(PALB2):c.646del:p.Ile216fs	coding	Pathogenic
16	23635906	TA	T	A23635908C	PALB2	NM_024675.3(PALB2):c.639del:p.Thr214fs	coding	Pathogenic
16	23635910	TG	T	G23635912T	PALB2	NM_024675.3(PALB2):c.635del:p.Pro212fs	coding	Pathogenic
16	23635920	GA	G	A23635922T	PALB2	NM_024675.4(PALB2):c.625del:p.Ser209fs	coding	Pathogenic
16	23635925	TG	T	G23635927A	PALB2	NM_024675.3(PALB2):c.620del:p.Pro207fs	coding	Pathogenic/Likely_pathogenic
16	23635944	C	CT	A23635947T	PALB2	NM_024675.3(PALB2):c.601dup:p.Ser201fs	coding	Pathogenic/Likely_pathogenic
16	23635946	TA	T	A23635950G	PALB2	NM_024675.3(PALB2):c.599del:p.Leu199_Leu200insTer	coding	Pathogenic
16	23635985	AG	A	G23635987A	PALB2	NM_024675.4(PALB2):c.560del:p.Pro187fs	coding	Pathogenic
16	23635988	A	AT	G23635994T	PALB2	NM_024675.3(PALB2):c.557dup:p.Asn186fs	coding	Pathogenic
16	23635993	TG	T	G23635994C	PALB2	NM_024675.3(PALB2):c.552del:p.Ser184fs	coding	Pathogenic
16	23635997	AC	A	C23635998T	PALB2	NM_024675.3(PALB2):c.548del:p.Ser183fs	coding	Pathogenic/Likely_pathogenic
16	23635999	TG	T	G23636000A	PALB2	NM_024675.3(PALB2):c.546del:p.Ser183fs	coding	Pathogenic
16	23636001	AT	A	T23636004C	PALB2	NM_024675.3(PALB2):c.544del:p.Ile182fs	coding	Pathogenic/Likely_pathogenic
16	23636007	TC	AAAGGAACTA	T23636007A	PALB2	NM_024675.4(PALB2):c.538_539delinsTAGTTCCTTT:p.Glu180Ter	coding	Pathogenic
16	23636013	TC	T	C23636015T	PALB2	NM_024675.3(PALB2):c.532del:p.Glu178fs	coding	Pathogenic
16	23636014	CCTTTA	C	C23636015G	PALB2	NM_024675.4(PALB2):c.527_531del:p.Leu176fs	coding	Pathogenic
16	23636024	T	TTG	T23636026G	PALB2	NM_024675.3(PALB2):c.521_522insCA:p.Lys174fs	coding	Pathogenic
16	23636028	CCAGA	C	G23636031A	PALB2	NM_024675.3(PALB2):c.514_517del:p.Ser172fs	coding	Pathogenic
16	23636032	ACAATCTGAGTGAAT	A	A23636035G	PALB2	NM_024675.3(PALB2):c.500_513del:p.Asp167fs	coding	Pathogenic
16	23636035	ATC	A	C23636037G	PALB2	NM_024675.3(PALB2):c.509_510del:p.Arg170fs	coding	Pathogenic
16	23636043	G	GA	T23636046A	PALB2	NM_024675.3(PALB2):c.502dup:p.Ser168fs	coding	Pathogenic
16	23636057	GAC	G	C23636061G	PALB2	NM_024675.4(PALB2):c.485_486GT[1]:p.Val163fs	coding	Pathogenic
16	23636063	GTC	G	T23636070C	PALB2	NM_024675.4(PALB2):c.475_476GA[3]:p.Asp161fs	coding	Pathogenic
16	23636078	AAT	A	T23636080A	PALB2	NM_024675.3(PALB2):c.466_467del:p.Ile156fs	coding	Pathogenic/Likely_pathogenic
16	23636088	C	CTCTTCTGCTGCTTCTT	T23636114G	PALB2	NM_024675.3(PALB2):c.442_457dup:p.Arg153fs	coding	Pathogenic
16	23636126	C	CT	G23636131T	PALB2	NM_024675.4(PALB2):c.419dup:p.Gln141fs	coding	Pathogenic
16	23636126	CT	C	T23636130G	PALB2	NM_024675.4(PALB2):c.419del:p.Lys140fs	coding	Pathogenic
16	23636148	CTG	C	T23636149A	PALB2	NM_024675.3(PALB2):c.396_397del:p.Val132_Ser133insTer	coding	Pathogenic
16	23636150	GA	G	A23636151C	PALB2	NM_024675.3(PALB2):c.395del:p.Val132fs	coding	Pathogenic
16	23636190	TG	T	G23636191T	PALB2	NM_024675.3(PALB2):c.355del:p.Gln119fs	coding	Pathogenic
16	23636207	TG	T	G23636210C	PALB2	NM_024675.3(PALB2):c.338del:p.Pro113fs	coding	Pathogenic
16	23636227	AG	A	G23636229A	PALB2	NM_024675.4(PALB2):c.318del:p.Phe107fs	coding	Pathogenic
16	23636230	ACT	A	T23636232A	PALB2	NM_024675.4(PALB2):c.314_315del:p.Glu105fs	coding	Pathogenic
16	23636252	G	GA	T23636254A	PALB2	NM_024675.4(PALB2):c.293dup:p.Thr99fs	coding	Pathogenic
16	23636255	A	AG	A23636257G	PALB2	NM_024675.4(PALB2):c.290dup:p.Ile98fs	coding	Pathogenic
16	23636261	C	CT	C23636266T	PALB2	NM_024675.3(PALB2):c.284dup:p.Thr96fs	coding	Pathogenic
16	23636271	G	GT	C23636275T	PALB2	NM_024675.3(PALB2):c.274dup:p.Thr92fs	coding	Pathogenic
16	23636312	AAC	A	C23636316T	PALB2	NM_024675.4(PALB2):c.232_233del:p.Val78fs	coding	Pathogenic
16	23636313	AC	A	C23636314A	PALB2	NM_024675.3(PALB2):c.232del:p.Val78fs	coding	Pathogenic
16	23636316	CA	C	A23636317T	PALB2	NM_024675.3(PALB2):c.229del:p.Cys77fs	coding	Pathogenic
16	23636316	CAT	C	A23636319T	PALB2	NM_024675.4(PALB2):c.226_227AT[1]:p.Ile76fs	coding	Pathogenic/Likely_pathogenic
16	23636317	ATATTT	A	A23636324T	PALB2	NM_024675.4(PALB2):c.224_228del:p.Lys75fs	coding	Pathogenic/Likely_pathogenic
16	23636319	AT	A	T23636323A	PALB2	NM_024675.3(PALB2):c.226del:p.Ile76fs	coding	Pathogenic/Likely_pathogenic
16	23637856	GT	G	T23637860A	PALB2	NM_024675.3(PALB2):c.204del:p.Lys68fs	coding	Pathogenic
16	23637885	GACAA	G	A23637890T	PALB2	NM_024675.4(PALB2):c.168_171TTGT[1]:p.Gln60fs	coding	Pathogenic/Likely_pathogenic
16	23637904	CT	C	T23637905A	PALB2	NM_024675.3(PALB2):c.156del:p.Glu53fs	coding	Pathogenic
16	23637942	CT	C	T23637945G	PALB2	NM_024675.4(PALB2):c.118del:p.Arg40fs	coding	Pathogenic
16	23638077	CG	C	G23638080C	PALB2	NM_024675.4(PALB2):c.100del:p.Arg34fs	coding	Pathogenic
16	23638084	G	GT	G23638086T	PALB2	NM_024675.4(PALB2):c.93dup:p.Leu32fs	coding	Pathogenic
16	23638101	CT	C	T23638105C	PALB2	NM_024675.4(PALB2):c.76del:p.Arg26fs	coding	Pathogenic
16	23638105	TCA	CC	T23638105C	PALB2	NM_024675.4(PALB2):c.71_73delinsGG:p.Leu24fs	coding	Pathogenic
16	23638105	TC	T	C23638106A	PALB2	NM_024675.3(PALB2):c.72del:p.Arg26fs	coding	Pathogenic
16	23638127	T	TA	C23638130A	PALB2	NM_024675.4(PALB2):c.50dup:p.Leu17fs	coding	Pathogenic
16	23638129	AC	A	C23638130T	PALB2	NM_024675.4(PALB2):c.49-1del	coding	Pathogenic
16	23641121	C	CCTCA	A23641127T	PALB2	NM_024675.4(PALB2):c.33_36dup:p.Glu13Ter	coding	Pathogenic
16	23641122	CT	C	T23641123C	PALB2	NM_024675.3(PALB2):c.35del:p.Glu12fs	coding	Pathogenic
16	23641132	A	CG	A23641132C	PALB2	NM_024675.3(PALB2):c.26delinsCG:p.Leu9fs	coding	Pathogenic
16	23641145	G	GA	G23641147A	PALB2	NM_024675.3(PALB2):c.12dup:p.Pro5fs	coding	Pathogenic/Likely_pathogenic
16	24777101	AGCAGCCACAGCC	A	A24777108G	TNRC6A	NM_014494.4(TNRC6A):c.339_350del:p.113_114PQ[1]	coding	Benign
16	25161210	AT	A	T25161221A	LCMT1	NM_016309.3(LCMT1):c.569+17del	noncoding	Benign
16	27437574	CCTGCCA	C	T27437576A	IL21R	NM_181078.3(IL21R):c.241_246del:p.Cys81_His82del	coding	Pathogenic
16	27775054	CA	C	A27775055T	KATNIP	NM_015202.4(KATNIP):c.4420del:p.Met1474fs	coding	Pathogenic
16	28477898	T	TA	G28477901A	CLN3	NM_000086.2(CLN3):c.1057-22dup	noncoding	Benign
16	28482308	CTGCCCTCGCTCCTCTTACCAGCGGTAT	C	C28482312T	CLN3	NM_000086.2(CLN3):c.954_962+18del	noncoding	Pathogenic
16	28482344	G	GT	G28482346T	CLN3	NM_000086.2(CLN3):c.944dup:p.His315fs	coding	Pathogenic
16	28482365	GAA	G	A28482369G	CLN3	NM_001042432.2(CLN3):c.922_923del:p.Phe308fs	coding	Pathogenic
16	28482645	TCC	T	C28482647G	CLN3	NM_000086.2(CLN3):c.816_817del:p.Glu273fs	coding	Pathogenic
16	28485958	CTTGAAGATTGCAATCATAATCAAGTTTTCTTTTCTTTCTTTTTTTTTTTTTCTTCCTGAGACAGAGTCTAACTCTGTCGCCCGGGCTGGAGTGCAATGGCACGATCTCGGCTCACTGCCACCACTGCCTCCGGGGTTCAAGCGATTCTCCTGCCTTAGCCTCCTGAGTAGTTGGGACTACAGGCACCCGCCACCACACCTGGCTAATTGTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAGGCTGGTTTCCTGACCTTAGGCGATCTGCCCTCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCACACCCAGCCATGGCCAAGTTTTCTCTCCTTGGACCCCTCTCCCTCCCGGCTCAGGGCAGCTCACCTGGCCAGCAGCAGGGCAGGGATACCCAGCATGGACAGCAGGGTCTGCTGAGGGGAGAGGCCGGCCTGGGTGAGGCCCAGGTAGGACAGGGCCCCCAGCAGCCCAGCTCCCCCAGTCCCTGAGGACCACCAGGAGATCACGGCCCTGGGAAGGAGAACACAGGAACATTCAGGAGGACCTAGGCTGACCATGGGACAGCCTCTCCCCACACTCCCTGCTCCACCTGCTTACCTGGGGTAGAAGGCAGTGAGGGAGAGGAAGGTGACCTCCCCAAGGCCTGATGAGATGCTAGCGAAGACCACACCTGGGGGGAGGACAAGCACTGGGATGGTCACACCACACCTTGCCACACTGCCCAGGCCTCTAATGTGTCTGGCCATGGCCTCCTCAGTATCAGCTCATAGAGGCTCCAATAGATCCCATGCATAGGCCAGGTTCCAGGTCTGAAGCAGAGCCCCACTCCCCTGCGTGTCCCTTCATGGAGAGTGGCACCTCCATCCACCCAGTTATCAGACCAGGGGCAGACATGCACCCTTGATGTCTCTGCCCCTTCATCAGTCTTTTTCTTTTCTTTTCTTTTTGGAGACGGAGTCTCGCCCTGTCACCCAGGCTGGAGTACAGTGGCGTGATCTCGGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGAGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCTCCTGCCACCACACCCAGCTAATTT	C	A28485962T	CLN3	NM_000086.2(CLN3):c.460+376_677+388del	noncoding	Pathogenic
16	28485962	AAGATTGCAATCATAATCAAGTTTTCTTTTCTTTCTTTTTTTTTTTTTCTTCCTGAGACAGAGTCTAACTCTGTCGCCCGGGCTGGAGTGCAATGGCACGATCTCGGCTCACTGCCACCACTGCCTCCGGGGTTCAAGCGATTCTCCTGCCTTAGCCTCCTGAGTAGTTGGGACTACAGGCACCCGCCACCACACCTGGCTAATTGTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAGGCTGGTTTCCTGACCTTAGGCGATCTGCCCTCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCACACCCAGCCATGGCCAAGTTTTCTCTCCTTGGACCCCTCTCCCTCCCGGCTCAGGGCAGCTCACCTGGCCAGCAGCAGGGCAGGGATACCCAGCATGGACAGCAGGGTCTGCTGAGGGGAGAGGCCGGCCTGGGTGAGGCCCAGGTAGGACAGGGCCCCCAGCAGCCCAGCTCCCCCAGTCCCTGAGGACCACCAGGAGATCACGGCCCTGGGAAGGAGAACACAGGAACATTCAGGAGGACCTAGGCTGACCATGGGACAGCCTCTCCCCACACTCCCTGCTCCACCTGCTTACCTGGGGTAGAAGGCAGTGAGGGAGAGGAAGGTGACCTCCCCAAGGCCTGATGAGATGCTAGCGAAGACCACACCTGGGGGGAGGACAAGCACTGGGATGGTCACACCACACCTTGCCACACTGCCCAGGCCTCTAATGTGTCTGGCCATGGCCTCCTCAGTATCAGCTCATAGAGGCTCCAATAGATCCCATGCATAGGCCAGGTTCCAGGTCTGAAGCAGAGCCCCACTCCCCTGCGTGTCCCTTCATGGAGAGTGGCACCTCCATCCACCCAGTTATCAGACCAGGGGCAGACATGCACCCTTGATGTCTCTGCCCCTTCATCAGTCTTTTTCTTTTCTTTTCTTTTTGG	A	T28485966C	CLN3	NM_000086.2(CLN3):c.461-279_677+384del	noncoding	Pathogenic
16	28485964	GATTGCAATCATAATCAAGTTTTCTTTTCTTTCTTTTTTTTTTTTTCTTCCTGAGACAGAGTCTAACTCTGTCGCCCGGGCTGGAGTGCAATGGCACGATCTCGGCTCACTGCCACCACTGCCTCCGGGGTTCAAGCGATTCTCCTGCCTTAGCCTCCTGAGTAGTTGGGACTACAGGCACCCGCCACCACACCTGGCTAATTGTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAGGCTGGTTTCCTGACCTTAGGCGATCTGCCCTCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCACACCCAGCCATGGCCAAGTTTTCTCTCCTTGGACCCCTCTCCCTCCCGGCTCAGGGCAGCTCACCTGGCCAGCAGCAGGGCAGGGATACCCAGCATGGACAGCAGGGTCTGCTGAGGGGAGAGGCCGGCCTGGGTGAGGCCCAGGTAGGACAGGGCCCCCAGCAGCCCAGCTCCCCCAGTCCCTGAGGACCACCAGGAGATCACGGCCCTGGGAAGGAGAACACAGGAACATTCAGGAGGACCTAGGCTGACCATGGGACAGCCTCTCCCCACACTCCCTGCTCCACCTGCTTACCTGGGGTAGAAGGCAGTGAGGGAGAGGAAGGTGACCTCCCCAAGGCCTGATGAGATGCTAGCGAAGACCACACCTGGGGGGAGGACAAGCACTGGGATGGTCACACCACACCTTGCCACACTGCCCAGGCCTCTAATGTGTCTGGCCATGGCCTCCTCAGTATCAGCTCATAGAGGCTCCAATAGATCCCATGCATAGGCCAGGTTCCAGGTCTGAAGCAGAGCCCCACTCCCCTGCGTGTCCCTTCATGGAGAGTGGCACCTCCATCCACCCAGTTATCAGACCAGGGGCAGACATGCACCCTTGATGTCTCTGCCCCTTCATCAGTCTTTTTCTTTTCTTTTCTTTTTGGA	G	A28485965G	CLN3	NM_000086.2(CLN3):c.461-280_677+382del	noncoding	Pathogenic
16	28486401	G	GA	G28486403A	CLN3	NM_000086.2(CLN3):c.622dup:p.Ser208fs	coding	Pathogenic
16	28486454	T	TC	A28486460C	CLN3	NM_000086.2(CLN3):c.569dup:p.Ala191fs	coding	Pathogenic
16	28487491	AC	A	C28487493A	CLN3	NM_000086.2(CLN3):c.424del:p.Val142fs	coding	Pathogenic
16	28487536	CG	C	G28487541C	CLN3	NM_001042432.1(CLN3):c.379del:p.Arg127fs	coding	Pathogenic/Likely_pathogenic
16	28487664	G	GA	T28487665A	CLN3	NM_000086.2(CLN3):c.371_372insT:p.Ser125fs	coding	Pathogenic
16	28487665	TA	T	A28487666G	CLN3	NM_000086.2(CLN3):c.370del:p.Tyr124fs	coding	Pathogenic/Likely_pathogenic
16	28488644	GC	G	C28488645G	CLN3	NM_000086.2(CLN3):c.240del:p.Pro81fs	coding	Pathogenic
16	28491742	GC	G	C28491744T	CLN3	NM_000086.2(CLN3):c.17del:p.Gly6fs	coding	Pathogenic
16	28496076	TGGGACAGCCTCAGGAGGGGAGGAGGCC	T	G28496124C	APOBR	NM_018690.4(APOBR):c.1056_1082GGAGGCCGGGACAGCCTCAGGAGGGGA[1]:p.352_360EEAGTASGG[1]	coding	Benign
16	28845996	CG	C	G28845997T	TUFM	NM_003321.5(TUFM):c.162del:p.Thr53_Tyr54insTer	coding	Pathogenic
16	28878722	GGTGA	G	T28878728A	ATP2A1	NM_004320.5(ATP2A1):c.53_56TGAG[1]:p.Ser19fs	coding	Pathogenic
16	28882563	TC	T	C28882566T	ATP2A1	NM_004320.5(ATP2A1):c.440del:p.Pro147fs	coding	Pathogenic
16	28887703	TGTGGCTGCCAT	ACGGCATA	T28887703A	ATP2A1	NM_004320.5(ATP2A1):c.909_920delinsACGGCATA:p.Val304fs	coding	Pathogenic
16	28898426	ACT	A	C28898429G	ATP2A1	NM_004320.5(ATP2A1):c.1740_1741CT[1]:p.Ser581fs	coding	Pathogenic
16	28898456	GC	G	C28898457A	ATP2A1	NM_173201.4(ATP2A1):c.1764+6del	noncoding	Benign/Likely_benign
16	28902318	GC	G	C28902326G	ATP2A1	NM_004320.5(ATP2A1):c.2464del:p.Arg822fs	coding	Pathogenic/Likely_pathogenic
16	28902318	G	GC	G28902327C	ATP2A1	NM_004320.5(ATP2A1):c.2464dup:p.Arg822fs	coding	Pathogenic/Likely_pathogenic
16	28936164	AG	A	G28936166A	CD19	NM_001770.6(CD19):c.960del:p.Arg321fs	coding	Pathogenic
16	28937799	AC	A	C28937803A	CD19	NM_001770.5(CD19):c.1464del:p.Ser489fs	coding	Pathogenic
16	28985460	C	CT	G28985462T	LAT	NM_001014987.2(LAT):c.44dup:p.Leu16fs	coding	Pathogenic
16	28986400	TGG	T	G28986404C	LAT	NM_001014987.2(LAT):c.268_269del:p.Gly90fs	coding	Pathogenic
16	29779608	GGTCCGA	G	C29779612A	ZG16	NM_152338.4(ZG16):c.163_168del:p.53_54RV[1]	coding	Benign
16	29796877	ATCT	A	T29796881C	KIF22	NM_007317.3(KIF22):c.71-12_71-10del	noncoding	Benign
16	29798352	ATTTC	A	T29798363C	KIF22	NM_007317.3(KIF22):c.267-21TTTC[2]	noncoding	Benign
16	29805249	CTCCT	C	T29805250G	KIF22	NM_007317.3(KIF22):c.1951-13_1951-10del	noncoding	Benign
16	29813080	C	CT	G29813082T	PRRT2	NM_145239.3(PRRT2):c.27dup:p.Glu10Ter	coding	Pathogenic
16	29813099	GGA	G	A29813103T	PRRT2	NM_145239.3(PRRT2):c.47_48AG[1]:p.Pro18fs	coding	Pathogenic
16	29813156	TC	T	C29813160A	PRRT2	NM_145239.3(PRRT2):c.106del:p.Gln36fs	coding	Pathogenic
16	29813223	GC	G	C29813227T	PRRT2	NM_145239.3(PRRT2):c.173del:p.Pro58fs	coding	Pathogenic
16	29813240	GC	G	C29813243A	PRRT2	NM_145239.3(PRRT2):c.189del:p.Lys64fs	coding	Pathogenic
16	29813241	C	CCCAAGGCTGGGCTGGCT	G29813262A	PRRT2	NM_145239.3(PRRT2):c.191_207dup:p.Glu70fs	coding	Pathogenic
16	29813262	GAA	G	A29813264C	PRRT2	NM_145239.3(PRRT2):c.210_211del:p.Glu70fs	coding	Pathogenic
16	29813266	CCA	C	C29813269G	PRRT2	NM_145239.3(PRRT2):c.213_214CA[1]:p.Thr72fs	coding	Pathogenic
16	29813336	A	AC	T29813337C	PRRT2	NM_145239.3(PRRT2):c.282_283insC:p.Ser95fs	coding	Pathogenic
16	29813343	GC	G	C29813345A	PRRT2	NM_145239.3(PRRT2):c.291del:p.Asn98fs	coding	Pathogenic
16	29813353	GC	G	C29813357G	PRRT2	NM_145239.3(PRRT2):c.303del:p.Glu102fs	coding	Pathogenic
16	29813377	CAG	C	A29813378T	PRRT2	NM_145239.3(PRRT2):c.324_325del:p.Ser110fs	coding	Pathogenic
16	29813482	A	AC	G29813488C	PRRT2	NM_145239.3(PRRT2):c.433dup:p.Arg145fs	coding	Pathogenic
16	29813501	G	GC	T29813504C	PRRT2	NM_145239.3(PRRT2):c.449dup:p.Thr151fs	coding	Pathogenic
16	29813562	A	AT	C29813565T	PRRT2	NM_145239.3(PRRT2):c.510dup:p.Leu171fs	coding	Pathogenic
16	29813563	TTCTG	T	T29813568A	PRRT2	NM_145239.3(PRRT2):c.510_513TCTG[1]:p.Ser172fs	coding	Pathogenic
16	29813569	C	CT	G29813571T	PRRT2	NM_145239.3(PRRT2):c.516dup:p.Glu173Ter	coding	Pathogenic
16	29813585	AAAGC	A	C29813589A	PRRT2	NM_145239.3(PRRT2):c.535_538del:p.Gln179fs	coding	Pathogenic
16	29813631	G	GA	G29813634A	PRRT2	NM_145239.3(PRRT2):c.579dup:p.Glu194fs	coding	Pathogenic
16	29813652	CCTCA	C	T29813658C	PRRT2	NM_145239.3(PRRT2):c.600_603TCAC[1]:p.Ser202fs	coding	Pathogenic
16	29813676	TC	T	C29813683A	PRRT2	NM_145239.3(PRRT2):c.629del:p.Pro210fs	coding	Pathogenic
16	29813676	T	TC	A29813684C	PRRT2	NM_145239.3(PRRT2):c.629dup:p.Ala211fs	coding	Pathogenic
16	29813694	GC	G	C29813703G	PRRT2	NM_145239.3(PRRT2):c.649del:p.Arg217fs	coding	Pathogenic/Likely_pathogenic
16	29813694	G	GC	G29813704C	PRRT2	NM_145239.3(PRRT2):c.649dup:p.Arg217fs	coding	Pathogenic/Likely_pathogenic
16	29813695	C	CA	C29813696A	PRRT2	NM_145239.3(PRRT2):c.641_642insA:p.Arg217fs	coding	Pathogenic
16	29813703	CG	C	G29813704A	PRRT2	NM_145239.3(PRRT2):c.650del:p.Arg217fs	coding	Pathogenic
16	29813704	G	GAGTGCTGC	C29813715T	PRRT2	NM_145239.3(PRRT2):c.653_660dup:p.Gln221fs	coding	Pathogenic
16	29813750	CAG	C	A29813751T	PRRT2	NM_145239.3(PRRT2):c.697_698del:p.Ser233fs	coding	Pathogenic
16	29813795	C	CA	G29813797A	PRRT2	NM_145239.3(PRRT2):c.742dup:p.Ser248fs	coding	Pathogenic
16	29813816	TGGGGTGGAGG	T	G29813823A	PRRT2	NM_145239.3(PRRT2):c.769_778del:p.Glu257fs	coding	Pathogenic
16	29813824	A	AG	T29813831G	PRRT2	NM_145239.3(PRRT2):c.776dup:p.Gly259_Glu260insTer	coding	Pathogenic
16	29813824	AG	A	G29813830T	PRRT2	NM_145239.3(PRRT2):c.776del:p.Gly259fs	coding	Pathogenic/Likely_pathogenic
16	29813850	CG	C	G29813853A	PRRT2	NM_145239.3(PRRT2):c.799del:p.Asp267fs	coding	Pathogenic
16	29813901	GTCAACATCGTGGCCTT	G	T29813902C	PRRT2	NM_145239.3(PRRT2):c.848_863del:p.Val283fs	coding	Pathogenic
16	29814373	AG	A	G29814374C	PRRT2	NM_145239.3(PRRT2):c.921del:p.Gln307fs	coding	Pathogenic
16	29814418	T	TG	A29814425G	PRRT2	NM_145239.3(PRRT2):c.971dup:p.Val325fs	coding	Pathogenic/Likely_pathogenic
16	29814424	GA	G	A29814425G	PRRT2	NM_145239.3(PRRT2):c.972del:p.Val325fs	coding	Pathogenic
16	30086285	G	GA	G30086288A	TBX6	NM_004608.3(TBX6):c.1250dup:p.Leu419fs	coding	Pathogenic
16	30086355	CCT	C	C30086356G	TBX6	NM_004608.3(TBX6):c.1179_1180del:p.Gly395fs	coding	Pathogenic
16	30086366	C	CG	C30086369G	TBX6	NM_004608.3(TBX6):c.1169dup:p.His391fs	coding	Pathogenic
16	30086868	GTGA	G	A30086883G	TBX6	NM_004608.3(TBX6):c.840-32TCA[4]	noncoding	Benign
16	30088756	G	GC	A30088764C	TBX6	NM_004608.3(TBX6):c.704dup:p.Met236fs	coding	Pathogenic
16	30089088	T	TCCC	A30089092C	TBX6	NM_004608.3(TBX6):c.473_475dup:p.Glu159_Pro160insGly	coding	Pathogenic
16	30090844	C	CG	A30090848G	TBX6	NM_004608.3(TBX6):c.266dup:p.Val91fs	coding	Pathogenic
16	30090889	G	GC	A30090893C	TBX6	NM_004608.3(TBX6):c.221dup:p.Thr75fs	coding	Pathogenic
16	30186646	CCT	C	C30186647G	CORO1A	NM_007074.3(CORO1A):c.248_249del:p.Pro83fs	coding	Pathogenic
16	30187413	CCGTG	C	G30187419A	CORO1A	NM_001193333.2(CORO1A):c.670_673GTGC[1]:p.Arg225fs	coding	Pathogenic
16	30188371	TC	T	C30188373A	CORO1A	NM_007074.3(CORO1A):c.1078del:p.Gln360fs	coding	Pathogenic
16	30709707	AC	A	C30709712T	SRCAP	NM_006662.3(SRCAP):c.833del:p.Pro278fs	coding	Pathogenic
16	30725021	CGTT	C	G30725022T	SRCAP	NM_006662.3(SRCAP):c.5598_5600del:p.Phe1867del	coding	Benign/Likely_benign
16	30737131	CGGGGGCT	C	G30737136A	SRCAP	NM_006662.3(SRCAP):c.7096_7102del:p.Ala2366fs	coding	Pathogenic
16	30737311	CCA	C	A30737315C	SRCAP	NM_006662.3(SRCAP):c.7273_7274AC[1]:p.Pro2426fs	coding	Pathogenic
16	30737414	TC	T	C30737416T	SRCAP	NM_006662.3(SRCAP):c.7376del:p.Pro2459fs	coding	Pathogenic
16	30737586	GC	G	C30737589A	SRCAP	NM_006662.3(SRCAP):c.7549del:p.Gln2517fs	coding	Pathogenic
16	30737902	A	AG	C30737904G	SRCAP	NM_006662.3(SRCAP):c.7863dup:p.Gln2622fs	coding	Pathogenic
16	30751258	AG	A	G30751260T	PHKG2	NM_000294.3(PHKG2):c.250del:p.Val84fs	coding	Pathogenic
16	30751551	AC	A	C30751554T	PHKG2	NM_000294.3(PHKG2):c.277del:p.Leu93fs	coding	Pathogenic
16	30751592	GGT	G	G30751595T	PHKG2	NM_000294.3(PHKG2):c.316_317GT[1]:p.Val106_Phe107insTer	coding	Pathogenic
16	30756375	GT	G	T30756376G	PHKG2	NM_000294.3(PHKG2):c.657del:p.Cys219fs	coding	Pathogenic
16	30756390	TC	AA	T30756390A	PHKG2	NM_000294.3(PHKG2):c.671_672delinsAA:p.Phe224Ter	coding	Pathogenic
16	30756500	TC	T	C30756502A	PHKG2	NM_000294.3(PHKG2):c.783del:p.Ser262fs	coding	Pathogenic
16	30959153	CA	C	A30959154G	SETD1A	NM_014712.3(SETD1A):c.214del:p.Arg72fs	coding	Pathogenic
16	30964754	T	TC	G30964757C	SETD1A	NM_014712.3(SETD1A):c.1014dup:p.Ala339fs	coding	Pathogenic
16	30965013	AC	A	C30965014T	SETD1A	NM_014712.3(SETD1A):c.1272del:p.Tyr425fs	coding	Pathogenic
16	30965027	G	GC	T30965030C	SETD1A	NM_014712.3(SETD1A):c.1287dup:p.Ser430fs	coding	Pathogenic
16	30965343	CAG	C	A30965344G	SETD1A	NM_014712.3(SETD1A):c.1602_1603del:p.Gly535fs	coding	Pathogenic
16	30966051	G	GC	A30966053C	SETD1A	NM_014712.3(SETD1A):c.2171dup:p.Ala725fs	coding	Pathogenic
16	30985702	CAG	C	A30985703G	HSD3B7	NM_025193.4(HSD3B7):c.45_46del:p.Gly17fs	coding	Pathogenic
16	30986073	AG	A	G30986078A	HSD3B7	NM_025193.4(HSD3B7):c.196del:p.Asp66fs	coding	Pathogenic
16	30986148	TGGTAGACGTGTTTG	T	G30986150C	HSD3B7	NM_025193.4(HSD3B7):c.268_281del:p.Val90fs	coding	Pathogenic
16	30986173	T	TC	A30986177C	HSD3B7	NM_025193.4(HSD3B7):c.294dup:p.Lys99fs	coding	Pathogenic
16	30986625	AC	A	C30986626G	HSD3B7	NM_025193.4(HSD3B7):c.453del:p.Pro150_Tyr151insTer	coding	Pathogenic
16	30987961	GT	G	T30987963C	HSD3B7	NM_025193.4(HSD3B7):c.890del:p.Phe297fs	coding	Pathogenic
16	30988111	CCT	C	C30988112G	HSD3B7	NM_025193.4(HSD3B7):c.1039_1040del:p.Leu347fs	coding	Pathogenic
16	30997009	CG	C	G30997010C	STX1B	NM_052874.5(STX1B):c.404del:p.Ala135fs	coding	Pathogenic
16	30997031	TC	T	C30997033A	STX1B	NM_052874.5(STX1B):c.382del:p.Glu128fs	coding	Pathogenic
16	31000951	TTGGCC	AT	T31000951A	STX1B	NM_052874.5(STX1B):c.252_257delinsAT:p.Ala85fs	coding	Pathogenic
16	31001133	G	GT	C31001140T	STX1B	NM_052874.5(STX1B):c.165dup:p.Gln56fs	coding	Pathogenic
16	31001165	T	TCAATGCACATCC	T31001166C	STX1B	NM_052874.5(STX1B):c.133_134insGGATGTGCATTG:p.Lys45delinsArgMetCysIleGlu	coding	Pathogenic
16	31001575	AC	A	C31001577T	STX1B	NM_052874.5(STX1B):c.58del:p.Val20fs	coding	Pathogenic
16	31001597	C	CTT	C31001601T	STX1B	NM_052874.5(STX1B):c.35_36dup:p.Asp13fs	coding	Pathogenic
16	31184371	TGGTGGA	T	G31184394A	FUS	NM_004960.3(FUS):c.521_523+3delGAGGTG	coding	Benign
16	31185081	T	TGGC	T31185102C	FUS	NM_004960.4(FUS):c.669_671CGG[7]:p.Gly231dup	coding	Benign/Likely_benign
16	31189747	CTT	C	T31189750G	FUS	NM_004960.4(FUS):c.1022_1023del:p.Ser340_Phe341insTer	coding	Pathogenic
16	31190960	TA	T	A31190961G	FUS	NM_004960.3(FUS):c.1394-2del	noncoding	Pathogenic
16	31191069	TG	T	G31191073A	FUS	NM_004960.3(FUS):c.1504del:p.Asp502fs	coding	Pathogenic
16	31191072	GGA	G	G31191073C	FUS	NM_004960.3(FUS):c.1504_1505del:p.Asp502fs	coding	Pathogenic
16	31191075	C	CAG	G31191080A	FUS	NM_001170634.1(FUS):c.1504_1505AG[3]:p.Gly503fs	coding	Pathogenic
16	31191077	G	GA	G31191079A	FUS	NM_004960.4(FUS):c.1509dup:p.Gly504fs	coding	Pathogenic
16	31191078	A	AGGTGG	C31191084G	FUS	NM_004960.3(FUS):c.1510_1514dup:p.Phe506fs	coding	Pathogenic
16	31191117	CTT	C	T31191119A	FUS	NM_004960.3(FUS):c.1541+9_1541+10del	noncoding	Benign/Likely_benign
16	31486200	CA	C	A31486201G	SLC5A2	NM_003041.3(SLC5A2):c.500delA:p.Gln167Argfs	coding	Pathogenic
16	31488888	TG	T	G31488890T	SLC5A2	NM_003041.4(SLC5A2):c.1291del:p.Val431fs	coding	Pathogenic
16	46674662	TA	T	A46674676C	VPS35	NM_018206.6(VPS35):c.915-3del	noncoding	Benign
16	46692440	CTT	C	T46692443G	ORC6	NM_014321.4(ORC6):c.257_258del:p.Ser85_Phe86insTer	coding	Pathogenic
16	46696051	GAGAA	G	A46696056G	ORC6	NM_014321.4(ORC6):c.598_601AGAA[1]:p.Lys201fs	coding	Pathogenic
16	46926984	CTG	C	G46926988C	GPT2	NM_133443.4(GPT2):c.1432_1433del:p.Val478fs	coding	Pathogenic
16	47669238	TGAA	T	A47669246T	PHKB	NM_000293.3(PHKB):c.2453_2455AAG[2]:p.Glu820del	coding	Benign/Likely_benign
16	47669242	GA	G	A47669244G	PHKB	NM_000293.3(PHKB):c.2457del:p.Glu820fs	coding	Pathogenic
16	47698601	C	CT	G47698623T	PHKB	NM_000293.3(PHKB):c.3144+34dup	noncoding	Benign
16	48143986	CTT	C	T48143988C	ABCC12	NM_033226.2(ABCC12):c.197_198del:p.Lys66fs	coding	Benign
16	49635986	T	TG	A49635992G	ZNF423	NM_001271620.2(ZNF423):c.2985dup:p.Asn996fs	coding	Pathogenic
16	49637633	TG	T	G49637637C	ZNF423	NM_001271620.2(ZNF423):c.1338del:p.Asn447fs	coding	Pathogenic
16	50711941	TC	T	C50711943T	NOD2	NM_001370466.1(NOD2):c.1951del:p.Leu651fs	coding	Pathogenic
16	50751655	C	CT	C50751661T	CYLD	NM_015247.2(CYLD):c.561dup:p.Gln188fs	coding	Pathogenic
16	50754338	GGGAT	G	T50754342A	CYLD	NM_015247.2(CYLD):c.831_834del:p.Asp277fs	coding	Pathogenic
16	50754419	T	TC	A50754423C	CYLD	NM_015247.2(CYLD):c.911dup:p.Ala305fs	coding	Pathogenic
16	50776220	ATGTCAAGAGG	A	C50776224T	CYLD	NM_015247.2(CYLD):c.968_977del:p.Ser323fs	coding	Pathogenic
16	50776242	A	AAG	G50776245A	CYLD	NM_015247.2(CYLD):c.987_988dup:p.Gly330fs	coding	Pathogenic
16	50779917	C	CT	G50779919T	CYLD	NM_015247.2(CYLD):c.1392dup:p.Gly465fs	coding	Pathogenic
16	50781263	C	CT	G50781265T	CYLD	NM_015247.2(CYLD):c.1537dup:p.Cys513fs	coding	Pathogenic
16	50781323	G	GT	G50781327T	CYLD	NM_015247.2(CYLD):c.1599dup:p.Val534fs	coding	Pathogenic
16	50781382	CCAAT	C	A50781385G	CYLD	NM_015247.2(CYLD):c.1658_1661del:p.Asn553fs	coding	Pathogenic
16	50781406	CTT	C	T50781408A	CYLD	NM_001042355.2(CYLD):c.1672_1673del:p.Leu558fs	coding	Pathogenic
16	50786851	TTAGATA	T	A50786853G	CYLD	NM_015247.2(CYLD):c.1950-2_1953del	noncoding	Pathogenic
16	50791586	T	TAC	T50791589A	CYLD	NM_015247.2(CYLD):c.2138_2139dup:p.Phe714fs	coding	Pathogenic
16	50791686	CAG	C	A50791689G	CYLD	NM_001042355.2(CYLD):c.2229_2230AG[1]:p.Glu744fs	coding	Pathogenic
16	50792606	TG	T	G50792607T	CYLD	NM_015247.2(CYLD):c.2252del:p.Cys751fs	coding	Pathogenic
16	50792643	TTAAAC	T	A50792646T	CYLD	NM_015247.2(CYLD):c.2291_2295del:p.Lys764fs	coding	Pathogenic
16	50793583	GTA	G	A50793585G	CYLD	NM_015247.2(CYLD):c.2390_2391del:p.Met796_Tyr797insTer	coding	Pathogenic
16	50793600	GCT	G	C50793601A	CYLD	NM_015247.2(CYLD):c.2406_2407del:p.Cys802_Tyr803delinsTer	coding	Pathogenic
16	50794256	GT	G	T50794257C	CYLD	NM_015247.2(CYLD):c.2515del:p.Ser839fs	coding	Pathogenic
16	50798614	GA	G	A50798630G	CYLD	NM_015247.2(CYLD):c.*2122del	noncoding	Benign
16	50801395	CAT	C	A50801396G	CYLD	NM_015247.2(CYLD):c.*4888_*4889del	noncoding	Benign
16	51136523	CA	C	A51136532G	SALL1	NM_002968.2(SALL1):c.*588del	noncoding	Benign
16	51138806	CAT	C	A51138807G	SALL1	NM_002968.2(SALL1):c.3414_3415del:p.Cys1139fs	coding	Pathogenic
16	51139116	G	GATTGCAA	C51139125T	SALL1	NM_002968.2(SALL1):c.3099_3105dup:p.Arg1036fs	coding	Pathogenic
16	51139213	ACAAG	A	A51139216G	SALL1	NM_002968.2(SALL1):c.3005_3008del:p.Ala1002fs	coding	Pathogenic
16	51139532	A	ACATC	C51139538A	SALL1	NM_002968.3(SALL1):c.2686_2689dup:p.Val897fs	coding	Pathogenic
16	51139865	CG	C	G51139867A	SALL1	NM_002968.2(SALL1):c.2356del:p.Arg786fs	coding	Pathogenic
16	51139965	AG	A	G51139966T	SALL1	NM_002968.2(SALL1):c.2256del:p.Tyr753fs	coding	Pathogenic
16	51140400	GC	G	C51140403A	SALL1	NM_002968.3(SALL1):c.1821del:p.Leu608fs	coding	Pathogenic
16	51140458	T	TG	C51140465G	SALL1	NM_002968.2(SALL1):c.1763dup:p.Gly589fs	coding	Pathogenic
16	51140840	TCA	T	A51140842T	SALL1	NM_002968.2(SALL1):c.1380_1381del:p.Ser460fs	coding	Pathogenic
16	51140873	TTG	T	G51140877T	SALL1	NM_001127892.1(SALL1):c.1054_1055CA[1]:p.His352fs	coding	Pathogenic
16	51140897	GA	G	A51140899G	SALL1	NM_002968.3(SALL1):c.1324del:p.Ser442fs	coding	Pathogenic
16	51140943	TTC	T	C51140945T	SALL1	NM_002968.3(SALL1):c.1277_1278del:p.Arg426fs	coding	Pathogenic
16	51140951	TG	T	G51140954C	SALL1	NM_002968.3(SALL1):c.1270del:p.Gln424fs	coding	Pathogenic
16	51141007	A	AG	C51141011G	SALL1	NM_002968.2(SALL1):c.1214dup:p.Leu406fs	coding	Pathogenic
16	51141112	GAC	G	A51141113C	SALL1	NM_002968.2(SALL1):c.1108_1109del:p.Val370fs	coding	Pathogenic
16	51141226	TG	T	G51141228A	SALL1	NM_002968.3(SALL1):c.995del:p.Pro332fs	coding	Pathogenic
16	51141350	T	TGA	T51141355G	SALL1	NM_001127892.1(SALL1):c.577_578TC[3]:p.Gln194fs	coding	Pathogenic
16	51141428	GGC	G	G51141429A	SALL1	NM_002968.3(SALL1):c.792_793del:p.Leu264fs	coding	Pathogenic
16	51141471	G	GA	T51141474A	SALL1	NM_002968.3(SALL1):c.750dup:p.Arg251fs	coding	Pathogenic
16	51141744	C	CGCTGCTGCTGCT	T51141775G	SALL1	NM_002968.2(SALL1):c.466_477dup:p.Ser159_Gly160insSerSerSerSer	coding	Benign
16	51141744	C	CGCTGCTGCT	T51141775G	SALL1	NM_002968.3(SALL1):c.448_450AGC[13]:p.Ser157_Ser159dup	coding	Benign
16	51141744	C	CGCT	T51141775G	SALL1	NM_002968.3(SALL1):c.448_450AGC[11]:p.Ser159dup	coding	Benign/Likely_benign
16	51141801	TG	T	G51141803A	SALL1	NM_002968.3(SALL1):c.420del:p.Ser141fs	coding	Pathogenic
16	53611016	TCTTTG	T	C53611022T	RPGRIP1L	NM_015272.5(RPGRIP1L):c.3647_3651del:p.Ala1216fs	coding	Pathogenic
16	53619081	G	GGT	C53619086G	RPGRIP1L	NM_015272.5(RPGRIP1L):c.3556_3557AC[3]:p.Pro1187fs	coding	Pathogenic
16	53619179	T	TA	T53619181A	RPGRIP1L	NM_015272.5(RPGRIP1L):c.3461dup:p.Ala1155fs	coding	Pathogenic
16	53641051	GA	G	A53641052T	RPGRIP1L	NM_015272.5(RPGRIP1L):c.2939del:p.Ile980fs	coding	Pathogenic
16	53641363	TAA	T	A53641364G	RPGRIP1L	NM_015272.5(RPGRIP1L):c.2794_2795del:p.Leu932fs	coding	Pathogenic
16	53645636	CTGTCATGTGCCAACGAAATCAGAGGCACA	C	G53645638T	RPGRIP1L	NM_015272.5(RPGRIP1L):c.2643_2671del:p.Asn881fs	coding	Pathogenic
16	53645830	ATCATGGTCTG	A	T53645831C	RPGRIP1L	NM_015272.5(RPGRIP1L):c.2468_2477del:p.Ala823fs	coding	Pathogenic
16	53645841	CA	C	A53645845T	RPGRIP1L	NM_015272.5(RPGRIP1L):c.2466del:p.Phe822fs	coding	Pathogenic
16	53645941	TAAGTTGCCATCTG	GTAA	T53645941G	RPGRIP1L	NM_015272.5(RPGRIP1L):c.2354_2367delinsTTAC:p.Thr785fs	coding	Pathogenic
16	53648998	GT	G	T53649000A	RPGRIP1L	NM_015272.5(RPGRIP1L):c.2269del:p.Thr757fs	coding	Pathogenic
16	53652965	AT	A	T53652966A	RPGRIP1L	NM_015272.5(RPGRIP1L):c.1721del:p.Tyr574fs	coding	Pathogenic
16	53652977	C	CT	A53652981T	RPGRIP1L	NM_015272.5(RPGRIP1L):c.1709dup:p.Asp571fs	coding	Pathogenic
16	53656567	CG	C	G53656570T	RPGRIP1L	NM_015272.5(RPGRIP1L):c.1603del:p.Arg535fs	coding	Pathogenic
16	53657612	AT	A	T53657619G	RPGRIP1L	NM_015272.5(RPGRIP1L):c.1421del:p.Asn474fs	coding	Pathogenic/Likely_pathogenic
16	53658792	G	GT	A53658799T	RPGRIP1L	NM_015272.5(RPGRIP1L):c.1329dup:p.Arg444fs	coding	Pathogenic
16	53658792	GTTTT	G	T53658795A	RPGRIP1L	NM_015272.5(RPGRIP1L):c.1326_1329del:p.Lys442fs	coding	Pathogenic
16	53658830	TAC	T	A53658831T	RPGRIP1L	NM_015272.5(RPGRIP1L):c.1290_1291del:p.Tyr431fs	coding	Pathogenic
16	53658843	GT	G	T53658845C	RPGRIP1L	NM_015272.5(RPGRIP1L):c.1278del:p.Glu426fs	coding	Pathogenic
16	53664980	CA	C	A53664981T	RPGRIP1L	NM_015272.5(RPGRIP1L):c.1132del:p.Trp378fs	coding	Pathogenic
16	53664992	TG	T	G53664995C	RPGRIP1L	NM_015272.5(RPGRIP1L):c.1120del:p.His374fs	coding	Pathogenic
16	53671539	T	TAA	G53671544A	RPGRIP1L	NM_015272.5(RPGRIP1L):c.1072_1073dup:p.Leu358fs	coding	Pathogenic
16	53672911	GTT	G	T53672913C	RPGRIP1L	NM_015272.5(RPGRIP1L):c.986_987del:p.Lys329fs	coding	Pathogenic
16	53672926	AG	A	G53672927C	RPGRIP1L	NM_015272.5(RPGRIP1L):c.972del:p.Cys325fs	coding	Pathogenic
16	53687846	CA	C	A53687852G	RPGRIP1L	NM_015272.5(RPGRIP1L):c.632+16del	noncoding	Benign/Likely_benign
16	53700657	C	CAA	G53700661A	RPGRIP1L	NM_015272.5(RPGRIP1L):c.65_66dup:p.Gly23fs	coding	Pathogenic
16	54113294	CG	C	G54113295T	FTO	NM_001080432.3(FTO):c.*1380del	noncoding	Benign
16	54113811	CT	C	T54113826G	FTO	NM_001080432.3(FTO):c.*1911del	noncoding	Benign
16	54933783	TAAAGAC	GT	T54933783G	IRX5	NM_005853.6(IRX5):c.1362_1368delinsGT:p.Lys455fs	coding	Pathogenic
16	55483019	TC	T	C55483020T	MMP2	NM_004530.6(MMP2):c.265del:p.Asp90fs	coding	Pathogenic
16	55491906	AG	A	G55491907A	MMP2	NM_004530.6(MMP2):c.1287del:p.Asn430fs	coding	Pathogenic
16	55493176	AC	A	C55493178T	MMP2	NM_004530.6(MMP2):c.1357del:p.Gly454fs	coding	Pathogenic
16	55820389	CA	C	A55820390T	CES1	NM_001025195.2(CES1):c.783del:p.Asp261fs	coding	Pathogenic
16	56334827	CCCACTTCACATTCAAGAACCT	C	C56334836G	GNAO1	NM_020988.3(GNAO1):c.572_592del:p.Thr191_Phe197del	coding	Pathogenic
16	56485662	T	TA	C56485664A	BBS2	NM_031885.5(BBS2):c.1986dup:p.Asn663Ter	coding	Pathogenic
16	56485717	A	AT	A56485719T	BBS2	NM_031885.5(BBS2):c.1931dup:p.Tyr644Ter	coding	Pathogenic
16	56496966	CAT	C	A56496967G	BBS2	NM_031885.4(BBS2):c.1909_1910del:p.Met637fs	coding	Pathogenic/Likely_pathogenic
16	56497033	G	GC	A56497036C	BBS2	NM_031885.5(BBS2):c.1843dup:p.Ala615fs	coding	Pathogenic
16	56497067	GAT	G	A56497070T	BBS2	NM_031885.5(BBS2):c.1808_1809del:p.Tyr603fs	coding	Pathogenic
16	56497769	CA	C	A56497773T	BBS2	NM_031885.4(BBS2):c.1770del:p.Phe590fs	coding	Pathogenic/Likely_pathogenic
16	56499815	CTGAT	C	A56499818G	BBS2	NM_031885.5(BBS2):c.1486_1489del:p.Ile496fs	coding	Pathogenic
16	56500960	G	GT	A56500962T	BBS2	NM_031885.4(BBS2):c.1290dup:p.His431fs	coding	Pathogenic
16	56501478	A	AG	T56501480G	BBS2	NM_031885.4(BBS2):c.1099dup:p.Leu367fs	coding	Pathogenic
16	56502672	CT	C	T56502675C	BBS2	NM_031885.4(BBS2):c.940del:p.Ile314fs	coding	Pathogenic
16	56505979	CA	C	A56505980T	BBS2	NM_031885.5(BBS2):c.774del:p.Asn258fs	coding	Pathogenic
16	56506175	AG	A	G56506178C	BBS2	NM_031885.4(BBS2):c.661del:p.Leu221fs	coding	Pathogenic/Likely_pathogenic
16	56510005	GA	G	A56510006T	BBS2	NM_031885.4(BBS2):c.563del:p.Ile188fs	coding	Pathogenic/Likely_pathogenic
16	56510888	AC	A	C56510889A	BBS2	NM_031885.5(BBS2):c.504del:p.Leu168fs	coding	Pathogenic
16	56510920	AC	A	C56510922T	BBS2	NM_031885.3(BBS2):c.472del:p.Val158Leufs	coding	Pathogenic
16	56511189	GA	G	A56511192C	BBS2	NM_031885.5(BBS2):c.440del:p.Phe147fs	coding	Pathogenic
16	56514534	GC	G	C56514536A	BBS2	NM_031885.4(BBS2):c.263del:p.Gly88fs	coding	Pathogenic
16	56832368	AG	A	G56832369C	NUP93	NM_014669.5(NUP93):c.1326del:p.Lys442fs	coding	Pathogenic
16	56865269	G	GA	C56865271A	SLC12A3	NM_001126108.2(SLC12A3):c.35dup:p.Asp12fs	coding	Pathogenic
16	56865288	G	GGC	T56865293G	SLC12A3	NM_001126108.2(SLC12A3):c.54_55GC[3]:p.Phe20fs	coding	Pathogenic
16	56865307	AC	A	C56865308T	SLC12A3	NM_000339.3(SLC12A3):c.73del:p.Leu25fs	coding	Pathogenic
16	56865469	G	GCC	G56865474C	SLC12A3	NM_001126108.2(SLC12A3):c.237_238dup:p.Arg80fs	coding	Pathogenic
16	56867069	GC	G	C56867070A	SLC12A3	NM_001126108.2(SLC12A3):c.283del:p.Gln95fs	coding	Pathogenic
16	56869761	ACGGTG	A	C56869762A	SLC12A3	NM_001126108.2(SLC12A3):c.539_543del:p.Thr180fs	coding	Pathogenic
16	56870675	C	GCGTGGTCTCGGTCATTGG	C56870675G	SLC12A3	NM_001126108.2(SLC12A3):c.791delinsGCGTGGTCTCGGTCATTGG:p.Ala264delinsGlyValValSerValIleGly	coding	Pathogenic
16	56870699	T	TG	C56870702G	SLC12A3	NM_001126108.2(SLC12A3):c.817dup:p.Ala273fs	coding	Pathogenic
16	56872666	TG	T	G56872667T	SLC12A3	NM_001126108.2(SLC12A3):c.976del:p.Val326fs	coding	Pathogenic
16	56878104	AC	A	C56878107T	SLC12A3	NM_001126108.2(SLC12A3):c.1126del:p.Leu376fs	coding	Pathogenic
16	56879084	G	GTGCGTGA	C56879095G	SLC12A3	NM_001126108.2(SLC12A3):c.1196_1202dup:p.Ser402_Gly403insTer	coding	Pathogenic
16	56879542	AC	A	C56879544A	SLC12A3	NM_001126108.2(SLC12A3):c.1338del:p.Thr446_Met447insTer	coding	Pathogenic
16	56884121	TG	T	G56884122T	SLC12A3	NM_000339.3(SLC12A3):c.1743del:p.Met581fs	coding	Pathogenic
16	56887003	CACCAAGT	C	A56887004G	SLC12A3	NM_001126108.2(SLC12A3):c.2089_2095del:p.Thr697fs	coding	Pathogenic
16	56893041	CTT	C	T56893043G	SLC12A3	NM_001126108.2(SLC12A3):c.2510_2511del:p.Leu836_Phe837insTer	coding	Pathogenic
16	56894540	TC	T	C56894542T	SLC12A3	NM_001126108.2(SLC12A3):c.2533del:p.Leu845fs	coding	Pathogenic
16	56894584	TG	T	G56894585C	SLC12A3	NM_001126108.2(SLC12A3):c.2576del:p.Cys859fs	coding	Pathogenic
16	56902499	CAG	C	A56902502T	SLC12A3	NM_001126108.2(SLC12A3):c.2848_2849AG[1]:p.Arg950fs	coding	Pathogenic
16	56904444	AC	A	C56904445G	SLC12A3	NM_001126108.2(SLC12A3):c.2907del:p.Asp969fs	coding	Pathogenic
16	56913298	A	AGCTC	G56913306C	SLC12A3	NM_001126108.2(SLC12A3):c.2963_2966dup:p.Tyr990fs	coding	Pathogenic
16	56982238	G	GT	A56982240T	CETP	NM_000078.3(CETP):c.1321+2dup	noncoding	Pathogenic
16	57037201	TA	CG	T57037201C	NLRC5	NM_032206.5(NLRC5):c.2718_2719delinsCG:p.Asn907Asp	coding	Benign
16	57230715	T	TA	C57230717A	RSPRY1	NM_133368.3(RSPRY1):c.1279dup:p.Thr427fs	coding	Pathogenic
16	57456646	AG	A	G57456647T	COQ9	NM_020312.4(COQ9):c.521+1del	coding	Pathogenic
16	57639373	CCAACGGTTGCCAGGG	C	C57639389G	ADGRG1	NM_201525.4(ADGRG1):c.-36+10587_-36+10601del	noncoding	Pathogenic
16	57650345	GT	G	T57650346C	ADGRG1	NM_201525.4(ADGRG1):c.59del:p.Val20fs	coding	Pathogenic
16	57651347	TC	T	C57651350T	ADGRG1	NM_201525.4(ADGRG1):c.215del:p.Pro72fs	coding	Pathogenic
16	57654035	GA	G	A57654036C	ADGRG1	NM_201525.4(ADGRG1):c.671del:p.Asp224fs	coding	Pathogenic
16	57654102	TCCAGGAC	T	C57654104T	ADGRG1	NM_201525.4(ADGRG1):c.739_745del:p.Gln247fs	coding	Pathogenic
16	57655918	A	ATT	G57655921T	ADGRG1	NM_201525.4(ADGRG1):c.944_945dup:p.Val316fs	coding	Pathogenic
16	57657419	TC	T	C57657421T	ADGRG1	NM_201525.4(ADGRG1):c.1216del:p.Leu406fs	coding	Pathogenic
16	57659595	AG	A	G57659599T	ADGRG1	NM_201525.4(ADGRG1):c.1473del:p.Tyr492fs	coding	Pathogenic
16	57660794	G	GT	G57660796T	ADGRG1	NM_201525.4(ADGRG1):c.1583dup:p.Ala529fs	coding	Pathogenic
16	57751653	GC	G	C57751655G	KATNB1	NM_005886.3(KATNB1):c.447del:p.Val150fs	coding	Pathogenic
16	57897488	AC	A	C57897491G	CNGB1	NM_001297.5(CNGB1):c.3150del:p.Phe1051fs	coding	Pathogenic
16	57897496	G	GCCAC	A57897502C	CNGB1	NM_001297.5(CNGB1):c.3139_3142dup:p.Ala1048fs	coding	Pathogenic
16	57901552	GA	G	A57901553T	CNGB1	NM_001297.5(CNGB1):c.2867del:p.Ile956fs	coding	Pathogenic
16	57903944	G	GTC	G57903948C	CNGB1	NM_001297.5(CNGB1):c.2670_2671dup:p.Thr891fs	coding	Pathogenic
16	57904811	T	TG	T57904816G	CNGB1	NM_001297.5(CNGB1):c.2556dup:p.Lys853fs	coding	Pathogenic
16	57904823	G	GC	G57904830C	CNGB1	NM_001297.5(CNGB1):c.2544dup:p.Leu849fs	coding	Pathogenic
16	57904840	A	AG	T57904844G	CNGB1	NM_001297.5(CNGB1):c.2527dup:p.Leu843fs	coding	Pathogenic
16	57949350	TACTC	T	C57949352G	CNGB1	NM_001297.5(CNGB1):c.1120_1121+2del	noncoding	Pathogenic/Likely_pathogenic
16	58002553	AGG	A	G58002556C	USB1	NM_024598.3(USB1):c.176_177del:p.Gly59fs	coding	Pathogenic
16	58002557	GC	G	C58002559T	USB1	NM_024598.3(USB1):c.179del:p.Pro60fs	coding	Pathogenic
16	58009992	T	TC	G58009998C	USB1	NM_024598.3(USB1):c.334dup:p.Arg112fs	coding	Pathogenic
16	58014308	CCAAT	C	T58014312G	USB1	NM_024598.3(USB1):c.489_492del:p.Asn163fs	coding	Pathogenic
16	58014318	GA	G	A58014322C	USB1	NM_001195302.2(USB1):c.450-3012del	coding	Pathogenic
16	58017360	CA	C	A58017361G	USB1	NM_024598.3(USB1):c.531del:p.His179fs	coding	Pathogenic
16	58019044	CAGGAACTACAGG	C	A58019045T	USB1	NM_024598.3(USB1):c.683_693+1del	coding	Pathogenic
16	58543411	GA	G	A58543424C	CNOT1	NM_016284.5(CNOT1):c.4434+195del	coding	Benign
16	58543411	G	GA	C58543425A	CNOT1	NM_016284.5(CNOT1):c.4434+183dup	coding	Benign
16	64982184	AG	CTGATGATC	A64982184C	CDH11	NM_001797.4(CDH11):c.1116_1117delinsGATCATCAG:p.Ile372fs	coding	Pathogenic
16	66517147	CCTT	C	T66517150C	TK2	NM_004614.5(TK2):c.604_606del:p.Lys202del	coding	Pathogenic
16	66531382	GA	AG	G66531382A	TK2	NM_004614.5(TK2):c.372_373delinsCT:p.Gln125Ter	coding	Pathogenic
16	66531394	GC	TT	G66531394T	TK2	NM_004614.5(TK2):c.360_361delinsAA:p.His121Asn	coding	Pathogenic
16	66531418	C	CAT	A66531422T	TK2	NM_004614.5(TK2):c.335_336dup:p.Val113fs	coding	Pathogenic
16	66541890	T	TCG	T66541895C	TK2	NM_004614.5(TK2):c.216_217CG[3]:p.Thr74fs	coding	Pathogenic
16	66548983	A	AT	C66548990T	TK2	NM_004614.5(TK2):c.150dup:p.Ser51fs	coding	Pathogenic
16	66548988	TTC	T	C66548992T	TK2	NM_004614.5(TK2):c.144_145del:p.Lys50fs	coding	Pathogenic
16	66548991	T	TC	T66548993C	TK2	NM_004614.5(TK2):c.142dup:p.Glu48fs	coding	Pathogenic
16	66549001	GTTCT	G	C66549004A	TK2	NM_004614.5(TK2):c.129_132del:p.Lys43fs	coding	Pathogenic
16	66549974	CG	C	G66549978C	TK2	NM_004614.5(TK2):c.87del:p.Pro31fs	coding	Pathogenic
16	66550053	C	CA	G66550055A	TK2	NM_004614.5(TK2):c.8dup:p.Trp4fs	coding	Pathogenic
16	67164899	GA	G	A67164900C	HSF4	NM_001040667.3(HSF4):c.89del:p.Asp30fs	coding	Pathogenic
16	67167823	G	GC	G67167831C	HSF4	NM_001040667.3(HSF4):c.965dup:p.Pro323fs	coding	Pathogenic
16	67431324	TCA	T	C67431325G	HSD11B2	NM_000196.4(HSD11B2):c.77_78del:p.Arg25_Ser26insTer	coding	Pathogenic
16	67436149	GC	G	C67436158A	HSD11B2	NM_000196.4(HSD11B2):c.664+16del	noncoding	Benign
16	67436149	G	GC	A67436159C	HSD11B2	NM_000196.4(HSD11B2):c.664+16dup	noncoding	Benign
16	67436677	GACT	G	T67436680A	HSD11B2	NM_000196.4(HSD11B2):c.895_897del:p.Tyr299del	coding	Pathogenic
16	67436794	CGCT	C	G67436795A	HSD11B2	NM_000196.3(HSD11B2):c.1010_1012delGCT:p.Arg337_Tyr338delinsHis	coding	Pathogenic
16	67611144	G	GGA	A67611147G	CTCF	NM_006565.4(CTCF):c.313_314dup:p.Gln106fs	coding	Pathogenic
16	67611206	C	CT	G67611208T	CTCF	NM_006565.4(CTCF):c.375dup:p.Val126fs	coding	Pathogenic
16	67611435	C	CA	C67611443A	CTCF	NM_006565.4(CTCF):c.610dup:p.Thr204fs	coding	Pathogenic
16	67611443	CAAAG	C	G67611447A	CTCF	NM_006565.4(CTCF):c.615_618del:p.Lys206fs	coding	Pathogenic
16	67611603	TAAAA	T	A67611605G	CTCF	NM_006565.4(CTCF):c.773_776del:p.Lys258fs	coding	Pathogenic
16	67611605	AAAAG	A	A67611610G	CTCF	NM_006565.4(CTCF):c.778_781del:p.Lys260fs	coding	Pathogenic
16	67620792	G	GA	G67620797A	CTCF	NM_006565.4(CTCF):c.1186dup:p.Arg396fs	coding	Pathogenic
16	67626597	AGAAATGCCGTTACT	A	A67626599T	CTCF	NM_006565.4(CTCF):c.1402_1415del:p.Lys467_Lys468insTer	coding	Pathogenic
16	67628517	GTCTGT	G	G67628521A	CTCF	NM_006565.4(CTCF):c.1670_1674del:p.Val556_Cys557insTer	coding	Pathogenic
16	67629508	TA	T	A67629510G	CTCF	NM_006565.4(CTCF):c.1814del:p.Lys605fs	coding	Pathogenic
16	67636767	C	CA	G67636769A	CTCF	NM_006565.4(CTCF):c.1916dup:p.Pro640fs	coding	Pathogenic
16	67646735	A	AG	C67646738G	CARMIL2	NM_001013838.3(CARMIL2):c.490dup:p.Ala164fs	coding	Pathogenic
16	67649482	GA	G	A67649484G	CARMIL2	NM_001013838.3(CARMIL2):c.1784del:p.Lys595fs	coding	Pathogenic
16	67651790	GGCCTCCCGGAGCT	G	C67651793T	CARMIL2	NM_001013838.3(CARMIL2):c.2536_2548del:p.Leu846fs	coding	Pathogenic
16	67659785	CCTT	C	T67659788C	ACD	NM_001082486.2(ACD):c.250_252del:p.Lys84del	coding	Pathogenic
16	67842920	ACAG	A	C67842948T	THAP11	NM_020457.3(THAP11):c.367_369CAG[9]:p.Gln132del	coding	Benign
16	67940029	G	GT	A67940031T	LCAT	NM_000229.2(LCAT):c.1197dup:p.Gln400fs	coding	Pathogenic
16	67940252	CAGG	C	A67940256T	LCAT	NM_000229.2(LCAT):c.969_971CCT[1]:p.Leu325del	coding	Pathogenic
16	67942700	G	GCGC	G67942704C	LCAT	NM_000229.2(LCAT):c.491_493dup:p.Ala165_Ala166insGly	coding	Pathogenic
16	68316055	TA	T	A68316056C	PRMT7	NM_019023.5(PRMT7):c.77del:p.Tyr26fs	coding	Pathogenic
16	68337495	CAG	C	A68337498T	PRMT7	NM_019023.5(PRMT7):c.429_430AG[1]:p.Glu144fs	coding	Pathogenic
16	68337535	GC	G	C68337538T	PRMT7	NM_019023.5(PRMT7):c.471del:p.Ser158fs	coding	Pathogenic
16	68347257	T	TGCTCTCCG	T68347266G	PRMT7	NM_019023.5(PRMT7):c.1239_1246dup:p.Val416fs	coding	Pathogenic
16	68644735	C	CA	G68644752A	CDH3	NM_001793.5(CDH3):c.-629dupA	noncoding	Benign
16	68679935	AG	A	G68679937C	CDH3	NM_001793.6(CDH3):c.830del:p.Gly277fs	coding	Pathogenic
16	68681080	TG	T	G68681081T	CDH3	NM_001793.6(CDH3):c.981del:p.Met327fs	coding	Pathogenic
16	68695307	G	GC	T68695312C	CDH3	NM_001793.6(CDH3):c.2059dup:p.Leu687fs	coding	Pathogenic
16	68737477	CCT	C	C68737478G	CDH1	NM_004360.5(CDH1):c.48+15_48+16del	noncoding	Benign/Likely_benign
16	68738294	CAGGTCTCCTCTTGGCTCTGCCAGGAGCCGGAGCCCTGCCACCCTGGCTTTGACGCCGAGAGCTACACGTTCACGGTGCCCCGGCGCCACCTGGAGAGAGGCCGCGTCCTGGGCAG	C	C68738299G	CDH1	NM_004360.5(CDH1):c.51_163+2del	noncoding	Pathogenic
16	68738297	G	GTC	C68738302T	CDH1	NM_004360.5(CDH1):c.52_53dup:p.Ser19fs	coding	Pathogenic
16	68738329	CT	C	T68738330G	CDH1	NM_004360.5(CDH1):c.82del:p.Cys28fs	coding	Pathogenic
16	68738372	CCC	T	C68738372T	CDH1	NM_004360.5(CDH1):c.124_126delinsT:p.Pro42fs	coding	Pathogenic
16	68801709	A	AT	C68801715T	CDH1	NM_004360.5(CDH1):c.208dup:p.Ser70fs	coding	Pathogenic
16	68801722	C	CA	C68801724A	CDH1	NM_004360.5(CDH1):c.217dup:p.Thr73fs	coding	Pathogenic
16	68801829	GAA	G	A68801831G	CDH1	NM_004360.5(CDH1):c.325_326del:p.Lys109fs	coding	Pathogenic
16	68801862	TG	T	G68801866C	CDH1	NM_004360.5(CDH1):c.360del:p.His121fs	coding	Pathogenic
16	68801862	T	TG	C68801867G	CDH1	NM_004360.5(CDH1):c.360dup:p.His121fs	coding	Pathogenic
16	68801877	GC	G	C68801883G	CDH1	NM_004360.5(CDH1):c.377del:p.Pro126fs	coding	Pathogenic
16	68801877	G	GC	G68801884C	CDH1	NM_004360.5(CDH1):c.377dup:p.Pro127fs	coding	Pathogenic
16	68801884	GC	G	C68801888A	CDH1	NM_004360.5(CDH1):c.382del:p.His128fs	coding	Pathogenic
16	68808482	TCAGAAGA	T	C68808490G	CDH1	NM_004360.5(CDH1):c.447_453CAGAAGA[1]:p.Gln152fs	coding	Pathogenic
16	68808505	G	GT	A68808508T	CDH1	NM_004360.5(CDH1):c.471dup:p.Ile158fs	coding	Pathogenic
16	68808516	CATCAGC	AGAATA	C68808516A	CDH1	NM_004360.5(CDH1):c.480_486delinsAGAATA:p.Ile161fs	coding	Pathogenic
16	68808535	GA	G	A68808540G	CDH1	NM_004360.5(CDH1):c.504del:p.Gly169fs	coding	Pathogenic
16	68808552	T	TA	C68808558A	CDH1	NM_004360.5(CDH1):c.521dup:p.Asn174fs	coding	Pathogenic
16	68808710	C	CA	G68808714A	CDH1	NM_004360.5(CDH1):c.552dup:p.Glu185fs	coding	Pathogenic
16	68808763	CT	C	T68808764G	CDH1	NM_004360.5(CDH1):c.603del:p.Val202fs	coding	Pathogenic
16	68808789	GA	G	A68808792C	CDH1	NM_004360.5(CDH1):c.631del:p.Thr211fs	coding	Pathogenic
16	68808815	GC	G	C68808817T	CDH1	NM_004360.5(CDH1):c.656del:p.Pro219fs	coding	Pathogenic
16	68808847	CTG	C	G68808849A	CDH1	NM_004360.5(CDH1):c.687+1_687+2del	coding	Pathogenic
16	68810228	AT	A	T68810229G	CDH1	NM_004360.5(CDH1):c.720del:p.Asn240fs	coding	Pathogenic
16	68810303	AGGTCTTTAAGG	A	T68810309G	CDH1	NM_004360.5(CDH1):c.800_810del:p.Phe267fs	coding	Pathogenic
16	68811822	G	GA	G68811824A	CDH1	NM_004360.5(CDH1):c.972dup:p.Val325fs	coding	Pathogenic
16	68812132	CAG	C	A68812135T	CDH1	NM_004360.5(CDH1):c.1009_1010del:p.Ser337Phefs	noncoding	Pathogenic
16	68812188	G	GT	A68812191T	CDH1	NM_004360.5(CDH1):c.1064dup:p.Leu355fs	coding	Pathogenic
16	68812188	GT	G	T68812190A	CDH1	NM_004360.5(CDH1):c.1064del:p.Gly354_Leu355insTer	coding	Pathogenic
16	68812210	GT	G	T68812211G	CDH1	NM_004360.5(CDH1):c.1085del:p.Val362fs	coding	Pathogenic
16	68812232	AC	A	C68812233G	CDH1	NM_004360.5(CDH1):c.1107del:p.Asn369fs	coding	Pathogenic
16	68812254	TC	T	C68812257A	CDH1	NM_004360.5(CDH1):c.1131del:p.Thr378fs	coding	Pathogenic
16	68812262	CG	C	G68812264T	CDH1	NM_004360.5(CDH1):c.1137+1del	coding	Pathogenic
16	68813382	GC	G	C68813387A	CDH1	NM_004360.5(CDH1):c.1212del:p.Asn405fs	coding	Pathogenic
16	68813382	G	GC	A68813388C	CDH1	NM_004360.5(CDH1):c.1212dup:p.Asn405fs	coding	Pathogenic
16	68813391	AC	A	C68813395A	CDH1	NM_004360.4(CDH1):c.1220delC	coding	Pathogenic
16	68813407	C	CTG	A68813411G	CDH1	NM_004360.5(CDH1):c.1234_1235dup:p.Ile415fs	coding	Pathogenic
16	68813409	G	GTA	C68813414T	CDH1	NM_004360.5(CDH1):c.1235_1236TA[3]:p.Ile415fs	coding	Pathogenic
16	68815535	G	GC	A68815537C	CDH1	NM_004360.5(CDH1):c.1342dup:p.Gln448fs	coding	Pathogenic
16	68815565	GA	G	A68815567T	CDH1	NM_004360.5(CDH1):c.1373del:p.Asn458fs	coding	Pathogenic
16	68815573	TA	T	A68815574C	CDH1	NM_004360.5(CDH1):c.1380del:p.Pro461fs	coding	Pathogenic
16	68815584	GTC	G	T68815591A	CDH1	NM_004360.5(CDH1):c.1391_1392TC[3]:p.Leu466fs	coding	Pathogenic
16	68815591	TCACCACCTCCAC	AAA	T68815591A	CDH1	NM_004360.5(CDH1):c.1397_1409delinsAAA:p.Leu466fs	coding	Pathogenic
16	68815601	CA	C	A68815602C	CDH1	NM_004360.5(CDH1):c.1408del:p.Thr470fs	coding	Pathogenic
16	68815611	GT	G	T68815612C	CDH1	NM_004360.5(CDH1):c.1418del:p.Val473fs	coding	Pathogenic
16	68815665	AAG	A	A68815670T	CDH1	NM_004360.5(CDH1):c.1472_1473AG[2]:p.Arg492fs	coding	Pathogenic
16	68815680	TCCGAGGA	T	C68815682T	CDH1	NM_004360.5(CDH1):c.1488_1494del:p.Glu497fs	coding	Pathogenic
16	68815696	TG	T	G68815699C	CDH1	NM_004360.5(CDH1):c.1505del:p.Gly502fs	coding	Pathogenic
16	68815759	CG	C	G68815760T	CDH1	NM_004360.5(CDH1):c.1565+1del	coding	Pathogenic
16	68815760	G	GT	A68815762T	CDH1	NM_004360.5(CDH1):c.1565+2dup	noncoding	Pathogenic
16	68815760	G	GTT	A68815762T	CDH1	NM_004360.5(CDH1):c.1565+2_1565+3insTT	noncoding	Pathogenic/Likely_pathogenic
16	68819300	C	CT	G68819302T	CDH1	NM_004360.5(CDH1):c.1587dup:p.Ala530fs	coding	Pathogenic
16	68819302	G	GC	A68819305C	CDH1	NM_004360.5(CDH1):c.1590dup:p.Asn531fs	coding	Pathogenic
16	68819317	AT	A	T68819319A	CDH1	NM_004360.5(CDH1):c.1605del:p.Asn536fs	coding	Pathogenic
16	68819324	CG	C	G68819326A	CDH1	NM_004360.5(CDH1):c.1612del:p.Asp538fs	coding	Pathogenic
16	68819347	CG	C	G68819350C	CDH1	NM_004360.5(CDH1):c.1636del:p.Ala546fs	coding	Pathogenic
16	68819392	A	AC	G68819394C	CDH1	NM_004360.5(CDH1):c.1679dup:p.Tyr561fs	coding	Pathogenic
16	68819400	A	ACG	G68819401C	CDH1	NM_004360.5(CDH1):c.1686_1687insCG:p.Ala563fs	coding	Pathogenic
16	68819423	AT	A	T68819424G	CDH1	NM_004360.5(CDH1):c.1710del:p.Asn570fs	coding	Pathogenic
16	68822021	A	AC	A68822023C	CDH1	NM_004360.5(CDH1):c.1733dup:p.Gly579fs	coding	Pathogenic
16	68822034	T	TG	C68822036G	CDH1	NM_004360.5(CDH1):c.1746dup:p.Leu583fs	coding	Pathogenic
16	68822049	ATG	A	T68822052A	CDH1	NM_004360.5(CDH1):c.1761_1762TG[1]:p.Val588fs	coding	Pathogenic
16	68822063	GC	G	C68822068A	CDH1	NM_004360.5(CDH1):c.1779del:p.Ile594fs	coding	Pathogenic
16	68822063	G	GC	A68822069C	CDH1	NM_004360.5(CDH1):c.1779dup:p.Ile594fs	coding	Pathogenic
16	68822179	AAC	A	A68822184G	CDH1	NM_004360.5(CDH1):c.1891_1892AC[2]:p.His632fs	coding	Pathogenic
16	68822181	C	CA	C68822183A	CDH1	NM_004360.5(CDH1):c.1893dup:p.His632fs	coding	Pathogenic
16	68823408	C	CTA	C68823412A	CDH1	NM_004360.5(CDH1):c.1948_1949dup:p.Ile651fs	coding	Pathogenic
16	68823408	CTA	C	A68823410C	CDH1	NM_004360.5(CDH1):c.1948_1949del:p.Ile650fs	coding	Pathogenic
16	68823420	AGCCAAAGATG	A	A68823424T	CDH1	NM_004360.5(CDH1):c.1962_1971del:p.Pro654_Lys655insTer	coding	Pathogenic
16	68823433	C	CT	A68823436T	CDH1	NM_004360.5(CDH1):c.1973dup:p.Leu658fs	coding	Pathogenic
16	68823440	G	GT	G68823442T	CDH1	NM_004360.5(CDH1):c.1979dup:p.Gly661_Asp662insTer	coding	Pathogenic
16	68823441	TG	T	G68823444T	CDH1	NM_004360.5(CDH1):c.1982del:p.Gly661fs	coding	Pathogenic
16	68823451	CA	C	A68823455T	CDH1	NM_004360.5(CDH1):c.1993del:p.Ile665fs	coding	Pathogenic
16	68823460	TC	T	C68823461T	CDH1	NM_004360.5(CDH1):c.1999del:p.Leu667fs	coding	Pathogenic
16	68823479	CA	C	A68823480G	CDH1	NM_004360.5(CDH1):c.2018del:p.Gln673fs	coding	Pathogenic
16	68823523	CTG	C	T68823526A	CDH1	NM_004360.5(CDH1):c.2062_2063TG[1]:p.Cys688_Glu689delinsTer	coding	Pathogenic
16	68823561	CT	C	T68823562G	CDH1	NM_004360.5(CDH1):c.2100del:p.Val701fs	coding	Pathogenic
16	68823577	GC	G	C68823578A	CDH1	NM_004360.5(CDH1):c.2116del:p.Gln706fs	coding	Pathogenic
16	68823604	TG	T	G68823606A	CDH1	NM_004360.5(CDH1):c.2144del:p.Gly715fs	coding	Pathogenic
16	68823641	C	CA	G68823644A	CDH1	NM_004360.5(CDH1):c.2164+17dup	noncoding	Benign
16	68828194	CTGTTTCTTCGG	C	T68828195A	CDH1	NM_004360.5(CDH1):c.2186_2196del:p.Leu729fs	coding	Pathogenic
16	68828283	AG	A	G68828285A	CDH1	NM_004360.5(CDH1):c.2276del:p.Gly759fs	coding	Pathogenic
16	68829739	TC	T	C68829744G	CDH1	NM_004360.5(CDH1):c.2386del:p.Arg796fs	coding	Pathogenic/Likely_pathogenic
16	68829742	CCCGGTATCTTCCCCGCCCTG	C	G68829745A	CDH1	NM_004360.5(CDH1):c.2387_2406del:p.Arg796fs	coding	Pathogenic
16	68829746	G	GT	A68829748T	CDH1	NM_004360.5(CDH1):c.2389dup:p.Tyr797fs	coding	Pathogenic
16	68829752	TC	T	C68829756G	CDH1	NM_004360.5(CDH1):c.2398del:p.Arg800fs	coding	Pathogenic
16	68829784	AT	A	T68829788A	CDH1	NM_004360.5(CDH1):c.2430del:p.Phe810fs	coding	Pathogenic
16	68833286	TTAGAATCTGAAAGCGGCTGATACTGACCCCACAGCCCCGCCTTATGATTCTCTGCTCGTGTTTGACTATGAAGGAAGCGGTTCCGAAGCTGCTAGTCTGAGCTCCCTGAACTCCTCAGAGTCAGACAAAGACCAGGACTATGACTACTTGAACGAATGGGGCAATCGCTTCAAGAAGCTGGCTGACATGTACGGAGGCGGCGAGGACGAC	T	A68833290G	CDH1	NM_004360.5(CDH1):c.2440_2649del:p.Asn814_Ter883delinsGlyThr	noncoding	Pathogenic
16	68833320	GC	G	C68833324G	CDH1	NM_004360.5(CDH1):c.2474del:p.Pro825fs	coding	Pathogenic
16	69330989	GAA	G	A69330992G	COG8	NM_032382.4(COG8):c.1687_1688del:p.Phe563fs	coding	Pathogenic
16	69330996	GTC	G	C69331004T	COG8	NM_032382.5(COG8):c.1680_1681del:p.Glu560fs	coding	Pathogenic
16	70265789	TGCCCATCAGAAAATCCA	T	C70265792A	AARS1	NM_001605.2(AARS1):c.1223-144_1223-128del	noncoding	Benign
16	70512376	CTT	C	T70512378G	COG4	NM_015386.3(COG4):c.599_600del:p.Lys200fs	coding	Pathogenic
16	70523537	TC	T	C70523541A	COG4	NM_015386.3(COG4):c.6del:p.Thr3fs	coding	Pathogenic
16	70850568	AG	A	G70850571T	HYDIN	NM_001270974.2(HYDIN):c.12530del:p.Pro4177fs	coding	Pathogenic
16	71570776	AT	A	T71570777G	TAT	NM_000353.3(TAT):c.814del:p.Ile272fs	coding	Pathogenic
16	71576238	C	CA	T71576241A	TAT	NM_000353.3(TAT):c.177dup:p.Val60fs	coding	Pathogenic/Likely_pathogenic
16	71922689	A	AAG	T71922690A	IST1	NM_001270975.2(IST1):c.759+9_759+10insAG	noncoding	Benign
16	71947511	CTTTG	C	T71947518G	PKD1L3	NC_000016.10:g.71947514_71947517TGTT[1]	coding	Benign
16	71947527	TTC	T	C71947531T	PKD1L3	NC_000016.10:g.71947529_71947530CT[1]	coding	Benign
16	71999722	AC	A	C71999723A	PKD1L3	NM_181536.1(PKD1L3):c.256del:p.Asn85_Val86insTer	coding	Benign
16	72021216	CT	C	T72021217G	DHODH	NM_001361.5(DHODH):c.611del:p.Leu204fs	coding	Pathogenic
16	72124793	CTT	C	T72124796A	PMFBP1	NM_031293.3(PMFBP1):c.2561_2562del:p.Lys854fs	coding	Pathogenic
16	72125377	CTCTT	C	C72125379G	PMFBP1	NM_031293.3(PMFBP1):c.2278_2281del:p.Lys760fs	coding	Pathogenic
16	72126128	GC	G	C72126129T	PMFBP1	NM_031293.3(PMFBP1):c.2092del:p.Ala698fs	coding	Pathogenic
16	72787701	GCCGCCGCCGCCGCCGCCA	G	C72787721T	ZFHX3	NM_006885.4(ZFHX3):c.10539_10556TGGCGGCGGCGGCGGCGG[1]:p.Gly3522_Gly3527del	coding	Benign
16	72798719	TA	T	A72798735T	ZFHX3	NM_006885.4(ZFHX3):c.3968-6del	noncoding	Benign
16	74661243	C	CAG	G74661246A	RFWD3	NM_018124.4(RFWD3):c.205_206dup:p.Leu70fs	coding	Pathogenic
16	74661244	A	AGG	T74661249G	RFWD3	NM_018124.4(RFWD3):c.204_205dup:p.Leu69fs	coding	Pathogenic
16	74716563	CAG	C	A74716564G	FA2H	NM_024306.5(FA2H):c.821_822del:p.Pro274fs	coding	Pathogenic
16	74726326	CTG	C	G74726328A	FA2H	NM_024306.5(FA2H):c.510_511del:p.Tyr170_Ser171delinsTer	coding	Pathogenic
16	74740014	GCCAGGTACCTTGTCCCAATCCACCACTTTGAA	G	A74740017G	FA2H	NM_024306.5(FA2H):c.340_363+8del	noncoding	Pathogenic
16	74774579	GCTGATGTCCTGGCCCGCC	G	A74774583G	FA2H	NM_024306.5(FA2H):c.159_176del:p.Arg53_Ile58del	coding	Pathogenic
16	74774589	TG	T	G74774591C	FA2H	NM_024306.5(FA2H):c.166del:p.Gln56fs	coding	Pathogenic
16	74893815	A	AG	T74893820G	WDR59	NM_030581.4(WDR59):c.1867-7dup	noncoding	Benign
16	75475414	CAG	C	A75475417T	CHST6	NM_021615.5(CHST6):c.*3223_*3224CT[1]	noncoding	Benign
16	75478398	G	GC	A75478399C	CHST6	NM_021615.5(CHST6):c.*242_*243insG	noncoding	Benign
16	75630492	AG	A	G75630494A	KARS1	NM_001130089.1(KARS1):c.1438del:p.Leu480fs	coding	Pathogenic
16	75636504	G	GAA	G75636507A	KARS1	NM_005548.2(KARS1):c.430_431dup:p.Tyr145fs	coding	Pathogenic
16	75640354	TAAA	T	A75640370G	KARS1	NM_005548.2(KARS1):c.223-8_223-6del	noncoding	Benign
16	75640354	TAA	T	A75640371G	KARS1	NM_005548.2(KARS1):c.223-7_223-6del	noncoding	Benign
16	75640354	TA	T	A75640372G	KARS1	NM_005548.2(KARS1):c.223-6del	noncoding	Benign
16	75640354	T	TAA	G75640373A	KARS1	NM_005548.2(KARS1):c.223-23_223-22dup	noncoding	Benign
16	78099822	AGGAC	A	G78099824A	WWOX	NM_016373.4(WWOX):c.46_49del:p.Asp16fs	coding	Pathogenic
16	78108404	A	AT	G78108411T	WWOX	NM_016373.4(WWOX):c.108-13dup	noncoding	Benign
16	78108410	TG	T	G78108411T	WWOX	NM_016373.4(WWOX):c.108-12del	noncoding	Benign
16	78424965	T	TG	C78424970G	WWOX	NM_016373.4(WWOX):c.705dup:p.His236fs	coding	Pathogenic
16	78432544	CA	C	A78432550C	WWOX	NM_016373.4(WWOX):c.854del:p.Asn285fs	coding	Pathogenic
16	78432544	C	CA	C78432551A	WWOX	NM_016373.4(WWOX):c.854dup:p.Asn285fs	coding	Pathogenic
16	79599591	CTCGGGGTTCAGCTGCTG	TGCA	C79599591T	MAF	NM_005360.5(MAF):c.295_312delinsTGCA:p.Gln99fs	coding	Pathogenic
16	79599694	G	GA	G79599697A	MAF	NM_005360.5(MAF):c.208dup:p.Ser70fs	coding	Pathogenic
16	79599908	TGCCGCCGCC	T	C79599926T	MAF	NM_005360.5(MAF):c.-30_-28GGC[5]	noncoding	Benign
16	79599908	TGCC	T	C79599932T	MAF	NM_005360.5(MAF):c.-30_-28GGC[7]	noncoding	Benign
16	81084602	G	GA	T81084611A	GCSH	NM_004483.5(GCSH):c.293-16dup	noncoding	Benign
16	81363474	G	GA	G81363481A	GAN	NM_022041.3(GAN):c.1087-314dup	noncoding	Benign
16	81363860	GA	G	A81363864G	GAN	NM_022041.3(GAN):c.1157del:p.Lys386fs	coding	Pathogenic
16	81678635	GC	G	C81678643G	CMIP	NM_198390.2(CMIP):c.1388+15del	noncoding	Benign
16	83899284	CGG	C	G83899285T	MLYCD	NM_012213.3(MLYCD):c.141_142del:p.Val48fs	coding	Pathogenic
16	83907094	CA	C	A83907095G	MLYCD	NM_012213.3(MLYCD):c.637del:p.Ser213fs	coding	Pathogenic
16	83907094	CAGTG	C	G83907098A	MLYCD	NM_012213.3(MLYCD):c.640_641+2del	coding	Pathogenic
16	83908163	A	ATGAAGC	G83908170T	MLYCD	NM_012213.3(MLYCD):c.680_685dup:p.Arg229_Arg230insLeuLys	coding	Pathogenic
16	83915069	CTT	C	T83915071A	MLYCD	NM_012213.3(MLYCD):c.1064_1065del:p.Phe355fs	coding	Pathogenic
16	84001919	A	AG	C84001925G	NECAB2	NM_019065.2(NECAB2):c.1132+8dup	noncoding	Benign
16	84016678	GC	G	C84016683A	SLC38A8	NM_001080442.2(SLC38A8):c.1002del:p.Ser336fs	coding	Pathogenic
16	84017245	TCAG	T	C84017249A	SLC38A8	NM_001080442.2(SLC38A8):c.842_844CTG[1]:p.Ala282del	coding	Pathogenic
16	84017255	CT	C	T84017257C	SLC38A8	NM_001080442.3(SLC38A8):c.837del:p.Val280fs	coding	Pathogenic
16	84033366	CAG	C	A84033367G	SLC38A8	NM_001080442.2(SLC38A8):c.490_491del:p.Leu164fs	coding	Pathogenic
16	84099188	C	CA	C84099190A	MBTPS1	NM_003791.4(MBTPS1):c.285dup:p.Asp96Ter	coding	Pathogenic
16	84149026	AAT	A	A84149029G	DNAAF1	NM_178452.6(DNAAF1):c.145_146AT[1]:p.Ile49fs	coding	Pathogenic
16	84154730	T	TG	A84154733G	DNAAF1	NM_178452.6(DNAAF1):c.508dup:p.Glu170fs	coding	Pathogenic
16	84155722	GA	G	A84155723G	DNAAF1	NM_178452.6(DNAAF1):c.715del:p.Ser239fs	coding	Pathogenic
16	84165762	GTTTC	G	C84165766G	DNAAF1	NM_178452.6(DNAAF1):c.864-17_864-14del	noncoding	Benign/Likely_benign
16	84165848	AGAGCAGG	A	A84165853G	DNAAF1	NM_178452.6(DNAAF1):c.934_940del:p.Arg312fs	coding	Pathogenic
16	84165928	CAG	C	A84165937T	DNAAF1	NM_178452.6(DNAAF1):c.1018_1019del:p.Gln341fs	coding	Pathogenic
16	84165930	GA	G	A84165931G	DNAAF1	NM_178452.6(DNAAF1):c.1012del:p.Arg338fs	coding	Pathogenic
16	84170123	AGGACGGAGATGGAGAGCCAGAGG	A	G84170128C	DNAAF1	NM_178452.6(DNAAF1):c.1300_1322del:p.Gly434fs	coding	Pathogenic
16	84170309	TC	T	C84170312A	DNAAF1	NM_178452.6(DNAAF1):c.1484del:p.Pro495fs	coding	Pathogenic
16	84176045	C	CA	T84176049A	DNAAF1	NM_178452.6(DNAAF1):c.1814dup:p.Asn605fs	coding	Pathogenic
16	84176170	CT	C	T84176171G	DNAAF1	NM_178452.6(DNAAF1):c.1937del:p.Leu646fs	coding	Pathogenic
16	84463730	T	TAGTGGA	C84463737A	ATP2C2	NM_014861.3(ATP2C2):c.2840_*4dup:p.Ter947=	coding	Benign
16	84868917	CCTGTGCTGGGCTGTCCTGCCACTGTAGCCTCTGAGT	C	G84868935A	CRISPLD2	NM_031476.4(CRISPLD2):c.914+24_914+59del	noncoding	Benign
16	85656376	GGAGCGC	G	C85656394T	GSE1	NM_014615.5(GSE1):c.1029_1034CGAGCG[2]:p.339_340RE[6]	coding	Benign
16	85805794	GA	TT	G85805794T	COX4I1	NM_001861.6(COX4I1):c.303_304delinsTT:p.Lys101_Thr102delinsAsnSer	coding	Pathogenic
16	86072089	C	CTGTCGCCACTGCTATGATTAAAGCTGGGGAAGCTGGACTT	C86072130T	-	Single_allele	noncoding	Pathogenic
16	86510623	CGGCG	C	C86510626G	FENDRR;FOXF1	NM_001451.3(FOXF1):c.57_60del:p.Gly20fs	coding	Pathogenic
16	86511251	TGCGGCGGC	T	G86511260C	FOXF1	NM_001451.3(FOXF1):c.683_690GCGGCGGC[1]:p.Ala231fs	coding	Pathogenic
16	86511417	CTT	C	T86511418A	FOXF1	NM_001451.3(FOXF1):c.849_850del:p.Ile285fs	coding	Pathogenic
16	86511433	GCCCCTGTC	G	C86511441A	FOXF1	NM_001451.3(FOXF1):c.872_879del:p.Leu290_Ser291insTer	coding	Pathogenic
16	86511465	C	CCCTGT	G86511473T	FOXF1	NM_001451.3(FOXF1):c.899_903dup:p.Gly302fs	coding	Pathogenic
16	86511530	GC	G	C86511534A	FOXF1	NM_001451.3(FOXF1):c.965del:p.Pro322fs	coding	Pathogenic
16	86512974	GTT	G	T86512976G	FOXF1	NM_001451.3(FOXF1):c.1031_1032del:p.Phe344fs	coding	Pathogenic
16	86512999	G	GCGTCCTCTTCCATGCACTCGGC	G86513024T	FOXF1	NM_001451.3(FOXF1):c.1057_1078dup:p.Gly360fs	coding	Pathogenic
16	86513547	A	AT	G86513558T	FOXF1	NM_001451.3(FOXF1):c.*472dup	noncoding	Benign
16	86514249	CTT	C	T86514260G	FOXF1	NM_001451.3(FOXF1):c.*1175_*1176del	noncoding	Benign
16	86567463	GC	G	C86567465A	FOXC2	NM_005251.3(FOXC2):c.130del:p.His44fs	coding	Pathogenic
16	86567534	C	CCT	A86567537C	FOXC2	NM_005251.3(FOXC2):c.200_201dup:p.Lys68fs	coding	Pathogenic
16	86567543	C	CT	G86567545T	FOXC2	NM_005251.3(FOXC2):c.209dup:p.Val71fs	coding	Pathogenic
16	86567623	CGGCATCTACCA	C	G86567625T	FOXC2	NM_005251.3(FOXC2):c.290_300del:p.Gly97fs	coding	Pathogenic
16	86567645	GACCGC	G	A86567646T	FOXC2	NM_005251.3(FOXC2):c.311_315del:p.Asp104fs	coding	Pathogenic
16	86567839	CA	C	A86567844G	FOXC2	NM_005251.3(FOXC2):c.509del:p.Lys170fs	coding	Pathogenic
16	86567921	G	GC	A86567924C	FOXC2	NM_005251.3(FOXC2):c.588dup:p.Thr197fs	coding	Pathogenic
16	86567937	CGGACGCCCCCAAGGAGGCCGAGAAGAAGGTGGTGATCAAGAGCGAGGCGGCGTCCCCGGCGCTGCCGGTCATCACCAAG	ACAAA	C86567937A	FOXC2	NM_005251.3(FOXC2):c.602_681delinsACAAA:p.Ala201_Thr226delinsAsp	coding	Pathogenic
16	86568228	TGCCGCCGCTGGCGCTGCCCTAC	T	T86568237G	FOXC2	NM_005251.3(FOXC2):c.902_923del:p.Leu301fs	coding	Pathogenic
16	86568244	G	GC	T86568248C	FOXC2	NM_005251.3(FOXC2):c.912dup:p.Tyr305fs	coding	Pathogenic
16	86568248	TACGCCGCC	T	A86568249G	FOXC2	NM_005251.3(FOXC2):c.914_921del:p.Tyr305fs	coding	Pathogenic
16	86568321	A	AC	A86568324C	FOXC2	NM_005251.3(FOXC2):c.988dup:p.Gln330fs	coding	Pathogenic
16	86568340	G	GA	T86568342A	FOXC2	NM_005251.3(FOXC2):c.1006dup:p.Met336fs	coding	Pathogenic
16	86568423	G	GCGGC	C86568429G	FOXC2	NM_005251.3(FOXC2):c.1090_1093dup:p.Pro365fs	coding	Pathogenic
16	86568665	CA	C	A86568666G	FOXC2	NM_005251.3(FOXC2):c.1331del:p.Gln444fs	coding	Pathogenic
16	87335448	CAGGCA	T	C87335448T	FBXO31	NM_024735.5(FBXO31):c.847_852delinsA:p.Cys283fs	coding	Pathogenic
16	87604287	C	CCTGCTG	T87604330C	JPH3	NM_020655.4(JPH3):c.382+760CTG[16]	coding	Benign
16	87604287	CCTGCTGCTG	C	C87604321T	JPH3	NM_020655.4(JPH3):c.382+760CTG[11]	coding	Benign/Likely_benign
16	87604287	CCTGCTGCTGCTGCTGCTGCTGCTG	C	C87604306T	JPH3	NM_001271604.4(JPH3):c.431CWG(40_?	coding	Pathogenic
16	88310444	TGCCCCTTCTTCCCGGTGGAACCATTTGCACACAAAAGTGATAGCTGCACTTCCCCCTTTGTTTTTCTGTAGCCTGTGTCTTGGATCTTGTTCCTTGACAGTACCTTGTCCTTCATTTTATTTTTTTTTTTTTATTAATTTTATTTATTTACTTTCTGAGACAGAGTCTCGCTCTGTTGCCCAGGCTGGAGTGCAGCAGCGCGATCTCGGCTCACTGCAACCTCCACCTCCTGGGTTCAAGCGATTCTCCTGCCTCAACCTCCTGAGTAGGGATTACAGGTGTGCGCCACCATGCCCAACTAATCTTAGTATTTTTAGTAGAGACCGGGTTTCACCATTTTGGCCAGGCTGCTGCTTTTTATTTTTAATAGGCTTTTTAAAAGAGCAGTTTTAGATTTACAGAAAAATCGAGAAGATGGCATAGAGTTTCTACTTGCCCTGCGCCCAACTGTCCACATCTCACCCTCTCACGGTGCCTTTGTTGTCACTGATGAACCCAACACTGATCCATCCTCATTCACCGTGCACCCTCACAGCCTCCTCCTGCACCAGGACCACATCCGGATCCCACCCAGGATTTGCTCGTCACGCCTCCCTCGGCTCCTCTCCAACTCCTTGTTTTTGAGGATCTTGACAGTTTTGAGGACCGCCTGGGCATTTTGTGGATCATCCCTCAATTGGGATTGTCTAGTGTTTTTCTCATGGTTAGACTACAGCGATGAATCACTGGGAGGAAGACCCTGGGGGCGAAGTGCCCATCTCACCACATCCCCTCAGGGGTCTACATCATCAACAGGATGCATCGCAGGGGACATTGACCTTGGCCACCTGGCTGAGGCCTCACTCTTTTTAAAGCTGAAACTGCAGGTCCCCAGGCTTTTATCCAAACCCTGGAGCTCGACAGGCTTTTTATTTCAGAGCTCAGGATTTTAGAAATGTAATGTACATTTACACAGCACTCCCATGGGATCCAGGGAAATAACCCATAAGAAAGCCCATGACTGTTTCTGCACTGAAACATGAATATTTACCCTGATTGGAGAAGCAGAGAAAATAAACAGTCTCACTGCAAATTTCCAAGCAAGTTCCAGAAGAACTTTTGTGGGGACTTCAGAACAGCTAGTAAGGGATGGTGGCCTGCCCTCCGTCAGTGGTTCATTCTATAACTTACTGTGCTGGGCTCCAACTGAGGGGTGTCTGGTGGTTTCAGGGCTGTCCCTGCAGCGTTGCAGAGACAGTCCTAGTGTGGAAGTCTCTGTGAGTACCTGCCAGGTAGATTTCTGGGAGGCCACACTTGGCCCCAGGTTTTTGTGTCTTAAACTTGGATTGAGTTGGCCAAGTCGTTCGCCAACAAGGACATATTGATTTGCATTTTCGCAATGATATAGCCTGGGGCTTGTTCCTGAAGCTGCGTGCTTTCAAATGATTGATTGTGGAACACCTGATGGTGAAATCTCATTGGCTGCTTGTATTAGTCCATTCTCACACTGCTGATGAAGACATACCCAAGACTGGGTAATTTATAAAGGAAAGAAGTTTAATGAACTCACAGTTCCACATGGCTGTGGAGGCCTCACATTCATGGCAGAAGACAAAGGAAGAGCAAAGGCACATCTTACATGGCAGCTGGCAAAGAGAGAATGAAAACCAAGTGAAAGGGGTTTCCCAGTATAAACCCATCAGATCTCATGAGACTTCTTCAGTACCATGAGAACAGTATGGGGGAAACCACCCCCATGATTCAATTATCTCCCACCTGGTCCCTCCCACAACACAAGGGAATTATGGGAACTACAGTTCAAGATGAGATTTGGGTGGGGACACAGCCAAAGCCTATCAGTACGGTAGTTCTAATTCCCAGGAGGCTCAGCCTGTTCTCATGTGGTTATAGGTTGCTGGGATTTACCTTCTTGCACCAGCTTCTCAGGCCATTTGCCCATTTGTCTCTTGACGGGTTGGTCTGTAACTTACTCTTTTTGTTGTTTCTTTAATCCCCTGTTTCTGATATATAAGTTGCCAAATTTCTCCCCAATTCTTCACTTGCTCGTGTGCCTGTGTTTTGTTCATTTGTGTTGGCTTTAAGACCCTTATTTTATGTGGTCACATATACCCACCTCCTTTTAAGCTTCCTGTGTTTTGTTTCATTCTTCAAAAGGCCTTGCGCATGCTGAAATTATTTTGTTAGAAACATCTTTCATGATTTCTTCTAGTGCTTTTGTTTTTTTGCCCTTAAGTCTTTGATTTGAGGGAGAGACGCCATTTTTCCTTTGTCTAGGGGGTGAGCCAGCTGTGCCAAGACCATTTGAAATGCTGCCTTTACAACGCAGTCAATGCGTCTGCCTTGTTCCACTGATGGGTCCACCCATCTTCATACCAGCCCCAAACCGCATTTTACTACAGTAGCTTTGCAAGCCATGCTGGTGCGCCATGGACTCCACGCCTCCATGCCCTCACGAATTATTCTAGGATGGCCTGGATGTTTATTTTTCCATATGAACTTTAGACTCAACTTACTTAGTTCCAGAAATAATTGTTGGTATAGGAAAAAGGAGCTGATTGACTCTGCAGCCTGATCTAGGGATAACTGACATATTTGTTATTATCGTGGCTCCTGGTCAGGGTCACGGTCAGGGTCAGTGTTAGGGTCTTCCCTTGATTCGGGCATTTTGAGCATCCCTCCGCTGTGCCTCCAAGTTCCCTTCATGTGGCTGAGGCACATTTCCTAAGTTTTTTCTGAGATATCTTTTTGTTGCTGTTATAAATTTGATCTCTCATTATATTTTCTATCTAATTATATATGAGAAAGCTGTTGATATTTGAATATCTTACTCTAACCAGTCATCTTCATGAACTCTGTTCATTTTCCAGATATGTAATCATATCAACTAAAATGGTGATCATTTTCTCTGCTCTTTTTCAATTTTTATACCTTGTAATTCTTTCTCTAGTCCAATTGCATCCGCCCATCCCTCCAAAAAATGTTCAATCCTAGTGAATATCTCTGTCTTATTTCACTATCTGTAATTAAGACGATGCTGGTGTGGACTGTCTCTGTAATTAAGACGATGCTGGTGTGGGCTGTCTCTGTAATTAAGACAATGCTGGTGTGGACTATCTATCTCTGTAATTAAGACAATGATGGTGTGGACTCTATCTCTGTAATTAAGATGATGCTGGTGTGGACTGTCTGTGTGATTATGATAATGCTGGTGTGGACTCTCTCTGTAATTAAGACAATGCTGGTGTAGACTGTCATCTCTGTAATTCAGGCAGTGCTGGTGTGGACTGTCATCTCTGTAATTCAGGCAGTGCTGCTGTGGACTGTCATCTCTGTAATTCAGGCAGTGCTGCTGTGGACTGTCATCTCTGTAATTCAGGCAGTGCTGGTGTGGGCTGTCTCTGTAATTAAGATGATGCTGGTGTAGAATATCTCTGTGATTATGATGATGCTTGTGTGGACTGTCATCTCTGTAATTCAGGCAGTGCTGATGTGGGCTGTCTCTGTAATTAAGATGATGCTGGTGTGGAATATCTCTGTGATTATGATGATGCTGGTGTGGACTGTCATCTCTGTAATTCAGGCAGTGCTGGTGTGGGCTGTCTCTGTAATTAAGATGATGCTGGTGTAGAATATCTCTGTGATTATGATGATGCTGCTGTGGACTGTCATCTCTGTAATTCAGGCAGTGCTGG	T	G88310445T	-	NC_000016.10:g.88310445_88314136del	noncoding	Pathogenic
16	88341726	TCCACAGACTGGGGGTGGGGTTCAGATGAGCCAGGAAGGGTGTGCAGGGGAGGATGGCTGGGGGCTGCCATGCCCAGTGGGGGCTGGGCGGGTGACTGGATGAGCCTGAAGGACTTGGGGACCAAGGTCATGATGGGTCCAGGGCCAGGGCGAGAGCATCACCAAGGGCGCTGGCCATCTGGGAAGGCCGTGAGAAGGAGCTGTGCAGGTGTCGGGGCGGCCAGCATTGATGTGTGGACTTCGAGGTGCCCAGCTGGGGAAGCAGAATGGGGCTTTGGGCATCATAGCAGGTGGCAGCTCCAGCCAACAGGGTCCCAGGTGAGGCAAGCAGCAACATGTGCAGGGCGGGGCGGGGCTGGCTGGGGACGAAGAAGGCCGGTGGGAGAGGCCGGGCAGGGGCTGAGGAGGCGCTGCGACAGGGGTCTCCAGCCCTTCGCCCCCCAGCACCTCGCAGGTCTGGGCTCGGTCTCCACCTTGTCACTGCTGGGAAGGTGACTCGAGAGATTTACCCAAAGTGACCAGGGAGCTCAGTGTGGGGGTCCAGGCTGGGACTTGAGTCTCTGCCTCCCCTCCTGCCTGCATCTCTCATGTTCCTGGAGCTCCAGGAACCTCAGGAAGATCTCATGGGGGAGGCCAAATGTCCTCTCCCAGCAGCCCAGTTCCCTGTGCCCCGCTCATGGCCGAACCTGGATGGAGCCTCAGAATCCTCCTCAGCTCCCCACTCCAATGGCCACTGAGGGTCAGAGAGGATGATCGGGGAAAGCTGCTTCTGCTCTGATGCACGGTGGGGGCCCACTGCCCTGCACTCAGGTAGGACATCACTGCCCCACCTCCTGTGGTCCCGCAGCCCCTTCCTTTGCTCAGCCTCTCGGACCTCCTGCCAGGGCCCGTCATGCAGAGGCGGCTCTGAGCAGTGAGCCTTTTCCCTGTAACTTGGGGACAGACCATGGGGGGACTGAGGCTGTGCCAGCAGGCGGTGGGCCTGCTTCTTTTCAAGGTGGCATCTGTTCTGCGTTGGGCCAGGTGGGAGAACGTGCATAAGTGTAAGACTCTAGCAGCCGCCTGATGCCAGCGTAGGGCGATGCCTGTCAATGACGCCAGCATAGGGCGATACCCGTCAAGCCCTTGTCGGGACCCAGTTGCAGGACGTCATGTGTATTTGGGTGGTGGGTCCCTGTGGGAGGTAACCCTCCCTCACCTGGAGGGGCACAGGGGCAGCAAGGCTGGGCTCAAGTCCTTCATGGCCACTGGATGAGCTTTGTGGGCAACTGCTGAGCTCCACGTGGTCCACAGGCAAAGCAGCGGGCAGATAGCACACGGGGACTGAGAAGCATAGGCGTCCTGTCTCACACCCCTTGTGGTCCATAGGCAAAGCAGCGGGAACATAGCACATGGGGACTGAGAAGCACAGGCATCCTGTCTCACACCTCTCATGCTCCTGGGTCCGTGGTAGCCCACCCTGCACTTGCTCTCCTGGACCTCCGTCCAGAGCTCAGGGCCACGGCTGAGATGGCATCCGGTGACAAAGTAAACATGGTATGGGGTTGTATGGGGTTAAAATCCCAAGGATAGAATAAACATCCACGAGCCCACAGTAACATAAAGTATCGAATGGATGAAATAAATAAATGGGGAAGAAAAGACACATCCCTCCCAAACAATGTACATAGACGCTTGCCCAGGAAGTAGCACAGAGCCGCCCGCCCACATGCAGCCTGCCCATCGTGACTTCTTCCTAAGAGCAGAGTGTGTGTCTTAGTCCATTTCTGCTGCTGTAGCTGAATCCCTGAGCCTGGGTAGTTTATAAAGGAAAGAAGTTTATTTCCCAGGGTTCTGGAGACTGGGAAGTCCAAGGTCGAGCGGCTGCCTCTGCTAAGGGC	T	C88341728T	-	NC_000016.10:g.88341727_88343605del	noncoding	Pathogenic
16	88342443	CCCACTCCAATGGCCACTGAGGGTCAGAGAGGATGATCGGGGAAAGCTGCTTCTGCTCTGATGCACGGTGGGGGCCCACTGCCCTGCACTCAGGTAGGACATCACTGCCCCACCTCCTGTGGTCCCGCAGCCCCTTCCTTTGCTCAGCCTCTCGGACCTCCTGCCAGGGCCCGTCATGCAGAGGCGGCTCTGAGCAGTGAGCCTTTTCCCTGTAACTTGGGGACAGACCATGGGGGGACTGAGGCTGTGCCAGCAGGCGGTGGGCCTGCTTCTTTTCAAGGTGGCATCTGTTCTGCGTTGGGCCAGGTGGGAGAACGTGCATAAGTGTAAGACTCTAGCAGCCGCCTGATGCCAGCGTAGGGCGATGCCTGTCAATGACGCCAGCATAGGGCGATACCCGTCAAGCCCTTGTCGGGACCCAGTTGCAGGACGTCATGTGTATTTGGGTGGTGGGTCCCTGTGGGAGGTAACCCTCCCTCACCTGGAGGGGCACAGGGGCAGCAAGGCTGGGCTCAAGTCCTTCATGGCCACTGGATGAGCTTTGTGGGCAACTGCTGAGCTCCACGTGGTCCACAGGCAAAGCAGCGGGCAGATAGCACACGGGGACTGAGAAGCATAGGCGTCCTGTCTCACACCCCTTGTGGTCCATAGGCAAAGCAGCGGGAACATAGCACATGGGGACTGAGAAGCACAGGCATCCTGTCTCACACCTCTCATGCTCCTGGGTCCGTGGTAGCCCACCCTGCACTTGCTCTCCTGGACCTCCGTCCAGAGCTCAGGGCCACGGCTGAGATGGCATCCGGTGACAAAGTAAACATGGTATGGGGTTGTATGGGGTTAAAATCCCAAGGATAGAATAAACATCCACGAGCCCACAGTAACATAAAGTATCGAATGGATGAAATAAATAAATGGGGAAGAAAAGACACATCCCTCCCAAACAATGTACATAGACGCTTGCCCAGGAAGTAGCACAGAGCCGCCCGCCCACATGCAGCCTGCCCATCGTGACTTCTTCCTAAGAGCAGAGTGTGTGTCTTAGTCCATTTCTGCTGCTGTAGCTGAATCCCTGAGCCTGGGTAGTTTATAAAGGAAAGAAGTTTATTTCCCAGGGTTCTGGAGACTGGGAAGTCCAAGGTCGAGCGGCTGCCTCTGCTAAGGGCCTTCTTGCTGGTG	C	C88342444G	-	NC_000016.10:g.88342444_88343618del	noncoding	Pathogenic
16	88342518	CCACTGCCCTGCACTCAGGTAGGACATCACTGCCCCACCTCCTGTGGTCCCGCAGCCCCTTCCTTTGCTCAGCCTCTCGGACCTCCTGCCAGGGCCCGTCATGCAGAGGCGGCTCTGAGCAGTGAGCCTTTTCCCTGTAACTTGGGGACAGACCATGGGGGGACTGAGGCTGTGCCAGCAGGCGGTGGGCCTGCTTCTTTTCAAGGTGGCATCTGTTCTGCGTTGGGCCAGGTGGGAGAACGTGCATAAGTGTAAGACTCTAGCAGCCGCCTGATGCCAGCGTAGGGCGATGCCTGTCAATGACGCCAGCATAGGGCGATACCCGTCAAGCCCTTGTCGGGACCCAGTTGCAGGACGTCATGTGTATTTGGGTGGTGGGTCCCTGTGGGAGGTAACCCTCCCTCACCTGGAGGGGCACAGGGGCAGCAAGGCTGGGCTCAAGTCCTTCATGGCCACTGGATGAGCTTTGTGGGCAACTGCTGAGCTCCACGTGGTCCACAGGCAAAGCAGCGGGCAGATAGCACACGGGGACTGAGAAGCATAGGCGTCCTGTCTCACACCCCTTGTGGTCCATAGGCAAAGCAGCGGGAACATAGCACATGGGGACTGAGAAGCACAGGCATCCTGTCTCACACCTCTCATGCTCCTGGGTCCGTGGTAGCCCACCCTGCACTTGCTCTCCTGGACCTCCGTCCAGAGCTCAGGGCCACGGCTGAGATGGCATCCGGTGACAAAGTAAACATGGTATGGGGTTGTATGGGGTTAAAATCCCAAGGATAGAATAAACATCCACGAGCCCACAGTAACATAAAGTATCGAATGGATGAAATAAATAAATGGGGAAGAAAAGACACATCCCTCCCAAACAATGTACATAGACGCTTGCCCAGGAAGTAGCACAGAGCCGCCCGCCCACATGCAGCCTGCCCATCGTGACTTCTTCCTAAGAGCAGAGTGTGTGTCTTAGTCCATTTCTGCTGCTGTAGCTGAATCCCTGAGCCTGGGTAGTTTATAAAGGAAAGAAGTTTATTTCCCAGGGTTCTGGAGACTGGGAAGTCCAAGGTCGAGCGGCTGCCTCTGCTAAGGGCCTTCTTGCTGGTGGGGACTCTGCAGCATCTGAGGCAGCACAGGGCATCCATGGCAAGGGGGCTGAGCCTGGTGGCTCAGGTCTCTCTT	C	A88342520T	-	NC_000016.10:g.88342520_88343694del	noncoding	Pathogenic
16	88428908	GC	G	C88428914T	ZNF469	NM_001367624.2(ZNF469):c.1444del:p.Leu482fs	coding	Pathogenic
16	88430364	AGGGGTC	A	G88430374C	ZNF469	NM_001367624.2(ZNF469):c.2898_2903GTCGGG[1]:p.967_968SG[1]	coding	Pathogenic
16	88433496	CA	C	A88433497G	ZNF469	NM_001367624.2(ZNF469):c.6027del:p.Gly2011fs	coding	Pathogenic
16	88433907	TG	T	G88433914C	ZNF469	NM_001367624.1(ZNF469):c.6444del:p.Gln2149fs	coding	Pathogenic/Likely_pathogenic
16	88435104	AC	A	C88435108A	ZNF469	NM_001127464.2(ZNF469):c.7554del:p.Ser2519Alafs	coding	Pathogenic/Likely_pathogenic
16	88437794	AG	A	G88437802C	ZNF469	NM_001367624.2(ZNF469):c.10332del:p.Arg3445fs	coding	Pathogenic
16	88439879	G	GGCCTCCTCCCTCTGACCACAGGGTCAT	A88439937T	ZNF469	NM_001367624.1(ZNF469):c.*551_*577TCCTCCCTCTGACCACAGGGTCATGCC[3]	noncoding	Benign
16	88440191	AT	A	T88440202A	ZNF469	NM_001367624.2(ZNF469):c.*870del	noncoding	Benign
16	88643525	CG	C	G88643529C	CYBA	NM_000101.4(CYBA):c.415del:p.Arg139fs	coding	Pathogenic
16	88646174	AGGAAGCCGGCGGGCACCGAGAGCCTGGGGGACAGCG	A	A88646177T	CYBA	NM_000101.4(CYBA):c.288-13_310del	coding	Pathogenic
16	88646795	AG	A	G88646798C	CYBA	NM_000101.4(CYBA):c.246del:p.Phe83fs	coding	Pathogenic
16	88647132	TC	T	C88647137G	CYBA	NM_000101.4(CYBA):c.171del:p.Lys58fs	coding	Pathogenic
16	88647137	CG	C	G88647142T	CYBA	NM_000101.4(CYBA):c.166del:p.Arg56fs	coding	Pathogenic
16	88650992	TG	T	G88650994C	CYBA	NM_000101.4(CYBA):c.21del:p.Met8fs	coding	Pathogenic
16	88714227	G	GGTGT	G88714233T	CTU2	NM_001012759.3(CTU2):c.1097+1GT[4]	coding	Benign
16	88714590	G	GT	G88714592T	CTU2	NM_001012759.3(CTU2):c.1206dup:p.Ala403fs	coding	Pathogenic
16	88715213	CTGAT	C	T88715217G	CTU2	NM_001012759.3(CTU2):c.1514_1517del:p.Ile505fs	coding	Pathogenic
16	88715682	C	CCTCCAG	C88715699A	PIEZO1	NM_001142864.4(PIEZO1):c.7477_7482CTGGAG[3]:p.2493_2494LE[3]	coding	Pathogenic
16	88717174	ATCT	A	T88717187G	PIEZO1	NM_001142864.4(PIEZO1):c.6494_6496AGA[4]:p.Lys2169del	coding	Benign
16	88721199	CCTT	C	T88721204C	PIEZO1	NM_001142864.4(PIEZO1):c.5629_5631AAG[1]:p.Lys1878del	coding	Benign
16	88723081	C	CCCGGG	G88723083C	PIEZO1	NM_001142864.4(PIEZO1):c.4495+13_4495+14insGCCCG	noncoding	Benign
16	88723258	G	GCCTGCT	G88723277C	PIEZO1	NM_001142864.4(PIEZO1):c.4388_4393AGCAGG[4]:p.1465_1466EQ[3]	coding	Benign
16	88723259	C	CCCTGCT	T88723261C	PIEZO1	NM_001142864.4(PIEZO1):c.4404_4405insAGCAGG:p.Ala1469_Arg1470insSerArg	coding	Benign
16	88723927	CCTCA	C	C88723930G	PIEZO1	NM_001142864.4(PIEZO1):c.4275_4278del:p.Ser1425fs	coding	Pathogenic
16	88731922	A	AGGAGGGCGGGGCGTGGGGATGCACTGAGTCTGGGGAGGGGGGGGTGTGGGGATGCACTGAGTCTGGGG	A88731924G	LOC100289580;PIEZO1	NM_001142864.4(PIEZO1):c.2992-13_2992-12insCCCCCAGACTCAGTGCATCCCCACACCCCCCCCTCCCCAGACTCAGTGCATCCCCACGCCCCGCCCTC	noncoding	Benign
16	88733270	GC	G	C88733272G	PIEZO1	NM_001142864.4(PIEZO1):c.2664+7del	noncoding	Benign
16	88733964	GTCC	G	C88733987G	PIEZO1	NM_001142864.4(PIEZO1):c.2247_2249GGA[7]:p.Glu756del	coding	Benign
16	88733987	CCTG	C	C88734000A	PIEZO1	NM_001142864.4(PIEZO1):c.2233_2235CAG[4]:p.Gln749del	coding	Benign
16	88737610	TATC	T	T88737612G	PIEZO1	NM_001142864.4(PIEZO1):c.1141_1143del:p.Asp381del	coding	Benign
16	88804751	TC	T	C88804756T	CDT1	NM_030928.4(CDT1):c.352-6del	noncoding	Benign
16	88809717	GAGA	G	A88809723G	APRT	NM_000485.3(APRT):c.518_520TCT[1]:p.Phe174del	coding	Pathogenic
16	88810067	T	TA	C88810069A	APRT	NM_000485.3(APRT):c.400+2dup	noncoding	Pathogenic
16	88810420	T	TA	C88810422A	APRT	NM_000485.3(APRT):c.321+2dup	noncoding	Pathogenic
16	88810482	T	TTCGG	A88810487T	APRT	NM_000485.3(APRT):c.258_261dup:p.Lys88fs	coding	Pathogenic
16	88818033	GCTGGGGCTGCGCGGGGACCAAGGCCTC	G	G88818038T	GALNS	NM_000512.5(GALNS):c.1429_1455del:p.Glu477_Gln485del	coding	Pathogenic
16	88824767	C	CT	G88824769T	GALNS	NM_000512.5(GALNS):c.1241dup:p.Ile416fs	coding	Pathogenic
16	88824816	TG	T	G88824817C	GALNS	NM_000512.5(GALNS):c.1192del:p.His398fs	coding	Pathogenic
16	88832093	TGCTGCCACCTGGGAGAGAGGGGCCCTTGTCAGGCCACTGGGACCAGATGTCCCCAGGCCCTCCCCCTCCCTCCC	CACTGAGT	T88832093C	GALNS	NM_000512.5(GALNS):c.899-66_907delinsACTCAGTG	coding	Pathogenic
16	88837689	AG	A	G88837690T	GALNS	NM_000512.5(GALNS):c.498del:p.Phe167fs	coding	Pathogenic
16	88837698	TG	T	G88837703A	GALNS	NM_000512.5(GALNS):c.489del:p.Asn164fs	coding	Pathogenic/Likely_pathogenic
16	88840990	ACCACTTGCCGACAATCTTG	A	C88840992T	GALNS	NM_000512.5(GALNS):c.405_422+1del	noncoding	Pathogenic
16	89100667	C	CCCCAGGAGGCTCCCGGGAG	G89100669C	ACSF3	NM_001243279.3(ACSF3):c.-14_-13insCCAGGAGGCTCCCGGGAGC	noncoding	Benign
16	89100926	TC	T	C89100927T	ACSF3	NM_001243279.3(ACSF3):c.246del:p.Cys83fs	coding	Pathogenic
16	89100939	CG	C	G89100942T	ACSF3	NM_001243279.3(ACSF3):c.261del:p.Cys88fs	coding	Pathogenic
16	89100985	TG	T	G89100986C	ACSF3	NM_001243279.3(ACSF3):c.305del:p.Cys102fs	coding	Pathogenic
16	89102609	CG	C	G89102612C	ACSF3	NM_001243279.3(ACSF3):c.675del:p.Leu226fs	coding	Pathogenic
16	89102738	GC	G	C89102740T	ACSF3	NM_001243279.3(ACSF3):c.803del:p.Pro268fs	coding	Pathogenic
16	89145344	TAC	T	C89145346A	ACSF3	NM_001243279.3(ACSF3):c.1446_1447del:p.Tyr482_Lys483delinsTer	coding	Pathogenic
16	89146035	C	CA	G89146039A	ACSF3	NM_001243279.3(ACSF3):c.1602dup:p.Glu535fs	coding	Pathogenic
16	89279227	A	AGTAG	G89279233T	ANKRD11	NM_013275.6(ANKRD11):c.7311_7314dup:p.Phe2439fs	coding	Pathogenic
16	89279238	GC	G	C89279241T	ANKRD11	NM_013275.6(ANKRD11):c.7303del:p.Ala2435fs	coding	Pathogenic
16	89279427	C	CG	C89279431G	ANKRD11	NM_013275.6(ANKRD11):c.7114dup:p.Arg2372fs	coding	Pathogenic
16	89279435	GGCCC	G	G89279436T	ANKRD11	NM_013275.6(ANKRD11):c.7103_7106del:p.Arg2368fs	coding	Pathogenic
16	89279458	T	TG	C89279464G	ANKRD11	NM_013275.6(ANKRD11):c.7083dup:p.Thr2362fs	coding	Pathogenic
16	89279479	AG	A	G89279485C	ANKRD11	NM_013275.6(ANKRD11):c.7062del:p.Ser2355fs	coding	Pathogenic
16	89279559	C	CG	C89279566G	ANKRD11	NM_013275.6(ANKRD11):c.6982dup:p.Arg2328fs	coding	Pathogenic/Likely_pathogenic
16	89279566	C	CCTTCGGGG	C89279581G	ANKRD11	NM_013275.6(ANKRD11):c.6968_6975dup:p.Ala2326fs	coding	Pathogenic
16	89279566	CCTTCGGGG	C	G89279573C	ANKRD11	NM_013275.6(ANKRD11):c.6968_6975del:p.Ala2323fs	coding	Pathogenic
16	89279658	TCA	T	C89279659G	ANKRD11	NM_013275.6(ANKRD11):c.6882_6883del:p.Glu2295fs	coding	Pathogenic
16	89279704	CCA	C	C89279707G	ANKRD11	NM_013275.6(ANKRD11):c.6834_6835TG[1]:p.Val2279fs	coding	Pathogenic
16	89279733	GCA	G	C89279736G	ANKRD11	NM_013275.6(ANKRD11):c.6805_6806TG[1]:p.Ala2270fs	coding	Pathogenic
16	89279749	C	CG	C89279757G	ANKRD11	NM_013275.6(ANKRD11):c.6792dup:p.Ala2265fs	coding	Pathogenic
16	89279749	CG	C	G89279756C	ANKRD11	NM_013275.6(ANKRD11):c.6792del:p.Ala2265fs	coding	Pathogenic
16	89279755	G	GT	G89279756T	ANKRD11	NM_013275.6(ANKRD11):c.6786_6787insA:p.Pro2263fs	coding	Pathogenic
16	89279852	CCT	C	C89279857T	ANKRD11	NM_013275.6(ANKRD11):c.6684_6685AG[2]:p.Arg2230fs	coding	Pathogenic
16	89279862	GGCA	TCT	G89279862T	ANKRD11	NM_013275.6(ANKRD11):c.6677_6680delinsAGA:p.Val2226fs	coding	Pathogenic
16	89279916	CCT	C	C89279917G	ANKRD11	NM_013275.6(ANKRD11):c.6624_6625del:p.Glu2210fs	coding	Pathogenic
16	89280028	CG	C	G89280033C	ANKRD11	NM_013275.6(ANKRD11):c.6513del:p.Val2173fs	coding	Pathogenic
16	89280292	CG	C	G89280295C	ANKRD11	NM_013275.6(ANKRD11):c.6249del:p.Ala2084fs	coding	Pathogenic
16	89280330	GAC	G	A89280331T	ANKRD11	NM_013275.6(ANKRD11):c.6210_6211del:p.Lys2070fs	coding	Pathogenic
16	89280344	GA	TT	G89280344T	ANKRD11	NM_013275.6(ANKRD11):c.6197_6198delinsAA:p.Phe2066Ter	coding	Pathogenic
16	89280376	AG	A	G89280379A	ANKRD11	NM_013275.6(ANKRD11):c.6165del:p.Tyr2056fs	coding	Pathogenic
16	89280403	CG	C	G89280405C	ANKRD11	NM_013275.6(ANKRD11):c.6138del:p.Ala2047fs	coding	Pathogenic
16	89280461	CAGAGCGTACGGGGC	GG	C89280461G	ANKRD11	NM_013275.6(ANKRD11):c.6067_6081delinsCC:p.Ala2023fs	coding	Pathogenic
16	89280500	CGGCGCCTCCGA	C	C89280506T	ANKRD11	NM_013275.6(ANKRD11):c.6031_6041del:p.Ser2011fs	coding	Pathogenic
16	89280526	C	CT	G89280528T	ANKRD11	NM_013275.6(ANKRD11):c.6015dup:p.Gly2006fs	coding	Pathogenic
16	89280587	CTG	C	T89280590G	ANKRD11	NM_013275.6(ANKRD11):c.5951_5952CA[1]:p.Gln1985fs	coding	Pathogenic
16	89280682	AG	A	G89280686T	ANKRD11	NM_013275.6(ANKRD11):c.5859del:p.Ser1954fs	coding	Pathogenic
16	89280764	C	CG	A89280771G	ANKRD11	NM_013275.6(ANKRD11):c.5777dup:p.Glu1927fs	coding	Pathogenic/Likely_pathogenic
16	89280859	T	TG	A89280865G	ANKRD11	NM_013275.6(ANKRD11):c.5682dup:p.Arg1895fs	coding	Pathogenic
16	89280874	GT	G	T89280878G	ANKRD11	NM_013275.6(ANKRD11):c.5667del:p.Lys1889fs	coding	Pathogenic
16	89280985	GGGAGT	G	G89280986A	ANKRD11	NM_013275.6(ANKRD11):c.5552_5556del:p.Tyr1851fs	coding	Pathogenic
16	89281004	CA	C	A89281006G	ANKRD11	NM_013275.6(ANKRD11):c.5537del:p.Leu1846fs	coding	Pathogenic
16	89281037	CA	C	A89281038G	ANKRD11	NM_013275.6(ANKRD11):c.5504del:p.Leu1835fs	coding	Pathogenic
16	89281103	C	CA	T89281104A	ANKRD11	NM_013275.6(ANKRD11):c.5438_5439insT:p.Gln1813fs	coding	Pathogenic
16	89281165	CAG	C	G89281169C	ANKRD11	NM_013275.6(ANKRD11):c.5373_5374CT[1]:p.Ser1792fs	coding	Pathogenic
16	89281307	GGA	G	A89281309T	ANKRD11	NM_013275.6(ANKRD11):c.5233_5234del:p.Ser1745fs	coding	Pathogenic
16	89281436	G	GC	A89281439C	ANKRD11	NM_013275.6(ANKRD11):c.5105dup:p.Val1703fs	coding	Pathogenic
16	89281476	AG	A	G89281478A	ANKRD11	NM_013275.6(ANKRD11):c.5065del:p.Leu1689fs	coding	Pathogenic
16	89281593	T	TTA	A89281596T	ANKRD11	NM_013275.6(ANKRD11):c.4947_4948dup:p.Lys1650fs	coding	Pathogenic
16	89281608	AG	A	G89281609C	ANKRD11	NM_013275.6(ANKRD11):c.4933del:p.Leu1645fs	coding	Pathogenic
16	89281639	GA	G	A89281640C	ANKRD11	NM_013275.6(ANKRD11):c.4902del:p.Leu1635fs	coding	Pathogenic
16	89281666	GC	G	C89281667T	ANKRD11	NM_013275.6(ANKRD11):c.4875del:p.Lys1625fs	coding	Pathogenic
16	89281907	T	TG	T89281911G	ANKRD11	NM_013275.6(ANKRD11):c.4634dup:p.Val1546fs	coding	Pathogenic
16	89282151	TTC	T	C89282159T	ANKRD11	NM_013275.6(ANKRD11):c.4383_4384GA[3]:p.Lys1464fs	coding	Pathogenic
16	89282157	C	CT	C89282159T	ANKRD11	NM_013275.6(ANKRD11):c.4384dup:p.Arg1462fs	coding	Pathogenic
16	89282157	CTCTT	C	T89282158C	ANKRD11	NM_013275.6(ANKRD11):c.4381_4384del:p.Lys1461fs	coding	Pathogenic
16	89282166	TTCTC	T	C89282168T	ANKRD11	NM_013275.6(ANKRD11):c.4372_4375del:p.Glu1458fs	coding	Pathogenic
16	89282271	GA	G	A89282275C	ANKRD11	NM_013275.6(ANKRD11):c.4270del:p.Ser1424fs	coding	Pathogenic
16	89282336	G	GT	A89282338T	ANKRD11	NM_013275.6(ANKRD11):c.4205dup:p.Tyr1402Ter	coding	Pathogenic
16	89282396	C	CT	C89282398T	TRAPPC2L	NM_013275.6(ANKRD11):c.4145dup:p.Gly1384fs	coding	Pathogenic
16	89282449	GCT	G	T89282453G	ANKRD11	NM_013275.6(ANKRD11):c.4091_4092del:p.Glu1364fs	coding	Pathogenic
16	89282474	TG	T	G89282475A	ANKRD11	NM_013275.6(ANKRD11):c.4067del:p.Ser1356fs	coding	Pathogenic
16	89282489	T	TA	C89282490A	ANKRD11	NM_013275.6(ANKRD11):c.4052_4053insT:p.Arg1351fs	coding	Pathogenic
16	89282593	GC	G	C89282597G	ANKRD11	NM_013275.6(ANKRD11):c.3948del:p.Gly1316_Leu1317insTer	coding	Pathogenic
16	89282596	CCGGCTCCTGCCCT	C	C89282600T	ANKRD11	NM_013275.6(ANKRD11):c.3933_3945del:p.Gly1312_Gln1313insTer	coding	Pathogenic
16	89282768	CTCTT	C	C89282770G	ANKRD11	NM_013275.6(ANKRD11):c.3770_3773del:p.Lys1257fs	coding	Pathogenic
16	89282770	CTT	C	T89282772G	ANKRD11	NM_013275.6(ANKRD11):c.3770_3771del:p.Lys1257fs	coding	Pathogenic
16	89282832	TTC	T	C89282834G	ANKRD11	NM_013275.6(ANKRD11):c.3708_3709del:p.Lys1237fs	coding	Pathogenic
16	89282834	CTGTT	C	G89282836A	ANKRD11	NM_013275.6(ANKRD11):c.3704_3707del:p.Lys1235fs	coding	Pathogenic
16	89282836	GTTTA	G	A89282840T	ANKRD11	NM_013275.6(ANKRD11):c.3702_3705del:p.Lys1235fs	coding	Pathogenic
16	89282908	CTT	C	T89282910A	ANKRD11	NM_013275.6(ANKRD11):c.3632_3633del:p.Lys1211fs	coding	Pathogenic
16	89282938	A	AG	A89282940G	TRAPPC2L	NM_013275.6(ANKRD11):c.3603dup:p.Phe1202fs	coding	Pathogenic
16	89282979	C	CT	G89282980T	ANKRD11	NM_013275.6(ANKRD11):c.3562_3563insA:p.Arg1188fs	coding	Pathogenic
16	89283111	GGCAAGT	CAGGACGGA	G89283111C	ANKRD11	NM_013275.6(ANKRD11):c.3425_3431delinsTCCGTCCTG:p.Asp1142fs	coding	Pathogenic
16	89283173	ACT	A	T89283177A	ANKRD11	NM_013275.6(ANKRD11):c.3367_3368del:p.Glu1122_Ser1123insTer	coding	Pathogenic
16	89283207	C	CT	C89283212T	ANKRD11	NM_013275.6(ANKRD11):c.3334dup:p.Ser1112fs	coding	Pathogenic
16	89283232	C	CT	C89283241T	ANKRD11	NM_013275.6(ANKRD11):c.3309dup:p.Asp1104fs	coding	Pathogenic
16	89283232	CT	C	T89283240C	ANKRD11	NM_013275.6(ANKRD11):c.3309del:p.Asp1104fs	coding	Pathogenic
16	89283232	CTTTT	C	T89283237C	ANKRD11	NM_013275.6(ANKRD11):c.3306_3309del:p.Lys1103fs	coding	Pathogenic
16	89283314	CCTTT	C	C89283319G	ANKRD11	NM_013275.6(ANKRD11):c.3220_3223AAAG[1]:p.Glu1075fs	coding	Pathogenic
16	89283321	TTG	T	G89283323C	ANKRD11	NM_013275.6(ANKRD11):c.3219_3220del:p.Asp1073fs	coding	Pathogenic
16	89283332	ATG	A	G89283338C	ANKRD11	NM_013275.6(ANKRD11):c.3208_3209del:p.His1070fs	coding	Pathogenic
16	89283342	TTA	T	A89283344G	ANKRD11	NM_013275.6(ANKRD11):c.3198_3199del:p.His1066fs	coding	Pathogenic
16	89283445	TG	T	G89283447A	ANKRD11	NM_013275.6(ANKRD11):c.3096del:p.Ser1033fs	coding	Pathogenic
16	89283457	TG	T	G89283458T	ANKRD11	NM_013275.6(ANKRD11):c.3084del:p.Arg1027_Tyr1028insTer	coding	Pathogenic
16	89283475	TC	T	C89283476T	ANKRD11	NM_013275.6(ANKRD11):c.3066del:p.Thr1023fs	coding	Pathogenic
16	89283482	CTTCCT	C	T89283489A	ANKRD11	NM_013275.6(ANKRD11):c.3055_3059del:p.Arg1019fs	coding	Pathogenic
16	89283637	CG	C	G89283640C	ANKRD11	NM_013275.6(ANKRD11):c.2904del:p.Glu969fs	coding	Pathogenic
16	89283684	TC	T	C89283686T	ANKRD11	NM_013275.6(ANKRD11):c.2857del:p.Asp953fs	coding	Pathogenic
16	89283712	ACTCT	A	T89283716C	ANKRD11	NM_013275.6(ANKRD11):c.2824_2825AG[1]:p.Arg942fs	coding	Pathogenic
16	89283731	CT	C	T89283735C	ANKRD11	NM_013275.6(ANKRD11):c.2810del:p.Lys937fs	coding	Pathogenic
16	89283790	C	CA	G89283792A	ANKRD11	NM_013275.6(ANKRD11):c.2751dup:p.Glu918Ter	coding	Pathogenic
16	89283812	CCTGTCCTTCTT	A	C89283812A	ANKRD11	NM_013275.6(ANKRD11):c.2719_2730delinsT:p.Arg906_Lys907insTer	coding	Pathogenic
16	89283875	CCTCCT	C	C89283881T	ANKRD11	NM_013275.6(ANKRD11):c.2662_2666del:p.Arg888fs	coding	Pathogenic
16	89283922	CCA	C	C89283925G	ANKRD11	NM_013275.6(ANKRD11):c.2618_2619del:p.Val873fs	coding	Pathogenic
16	89283952	C	CT	G89283954T	ANKRD11	NM_013275.6(ANKRD11):c.2589dup:p.Asp864fs	coding	Pathogenic
16	89284005	GA	G	A89284006C	ANKRD11	NM_013275.6(ANKRD11):c.2536del:p.Ser846fs	coding	Pathogenic
16	89284023	CG	C	G89284024A	ANKRD11	NM_013275.6(ANKRD11):c.2518del:p.Arg840fs	coding	Pathogenic
16	89284041	GA	G	A89284044G	ANKRD11	NM_013275.6(ANKRD11):c.2500del:p.Ser834fs	coding	Pathogenic
16	89284047	CT	C	T89284048A	ANKRD11	NM_013275.6(ANKRD11):c.2494del:p.Ser832fs	coding	Pathogenic
16	89284087	T	TA	C89284089A	ANKRD11	NM_013275.6(ANKRD11):c.2454dup:p.Asn819Ter	coding	Pathogenic
16	89284129	CTTTT	C	T89284132G	ANKRD11	NM_013275.6(ANKRD11):c.2409_2412del:p.Glu805fs	coding	Pathogenic/Likely_pathogenic
16	89284129	CTTTTT	C	T89284131G	ANKRD11	NM_013275.6(ANKRD11):c.2408_2412del:p.Lys803fs	coding	Pathogenic
16	89284134	TTGAG	T	G89284136T	ANKRD11	NM_013275.6(ANKRD11):c.2404_2407del:p.Leu802fs	coding	Pathogenic
16	89284140	TTTTC	T	C89284144A	ANKRD11	NM_013275.6(ANKRD11):c.2398_2401del:p.Glu800fs	coding	Pathogenic
16	89284209	TTCTC	T	C89284211A	ANKRD11	NM_013275.6(ANKRD11):c.2329_2332del:p.Glu777fs	coding	Pathogenic
16	89284236	GA	G	A89284237T	ANKRD11	NM_013275.6(ANKRD11):c.2305del:p.Ser769fs	coding	Pathogenic
16	89284241	CTTCT	C	T89284246C	ANKRD11	NM_013275.6(ANKRD11):c.2297_2300del:p.Lys766fs	coding	Pathogenic/Likely_pathogenic
16	89284267	TCA	T	C89284268G	ANKRD11	NM_013275.6(ANKRD11):c.2273_2274del:p.Leu758fs	coding	Pathogenic
16	89284363	CTTTG	C	T89284369G	ANKRD11	NM_013275.6(ANKRD11):c.2171_2174CAAA[1]:p.Asn725fs	coding	Pathogenic/Likely_pathogenic
16	89284493	CTT	C	T89284494G	ANKRD11	NM_013275.6(ANKRD11):c.2047_2048del:p.Lys683fs	coding	Pathogenic
16	89284565	G	GT	A89284567T	ANKRD11	NM_013275.6(ANKRD11):c.1976dup:p.Tyr659Ter	coding	Pathogenic
16	89284570	TAA	T	A89284573C	ANKRD11	NM_013275.6(ANKRD11):c.1970_1971del:p.Phe657fs	coding	Pathogenic
16	89284634	GTGTTT	G	G89284641A	ANKRD11	NM_013275.6(ANKRD11):c.1898_1902AAACA[1]:p.Lys635fs	coding	Pathogenic/Likely_pathogenic
16	89284644	TTA	T	A89284646G	ANKRD11	NM_013275.6(ANKRD11):c.1896_1897del:p.His632fs	coding	Pathogenic
16	89284741	G	GC	T89284743C	ANKRD11	NM_013275.6(ANKRD11):c.1800dup:p.Arg601fs	coding	Pathogenic
16	89284855	TG	T	G89284856A	ANKRD11	NM_013275.6(ANKRD11):c.1686del:p.Ser563fs	coding	Pathogenic
16	89284911	TTGGTGTGC	T	G89284916C	ANKRD11	NM_013275.6(ANKRD11):c.1623_1630del:p.His542fs	coding	Pathogenic
16	89285063	CCT	C	C89285064G	ANKRD11	NM_013275.6(ANKRD11):c.1477_1478del:p.Arg493fs	coding	Pathogenic
16	89285078	ACT	A	C89285083G	ANKRD11	NM_013275.6(ANKRD11):c.1458_1459AG[2]:p.Ser488fs	coding	Pathogenic
16	89285119	T	TG	T89285121G	ANKRD11	NM_013275.6(ANKRD11):c.1422dup:p.Lys475fs	coding	Pathogenic
16	89285140	GA	G	A89285142C	ANKRD11	NM_013275.6(ANKRD11):c.1401del:p.Arg468fs	coding	Pathogenic
16	89285152	CT	C	T89285156G	ANKRD11	NM_013275.6(ANKRD11):c.1389del:p.Gly464fs	coding	Pathogenic
16	89285153	TTTTG	T	G89285157C	ANKRD11	NM_013275.6(ANKRD11):c.1385_1388del:p.Thr462fs	coding	Pathogenic
16	89285157	GTTTC	G	T89285166G	ANKRD11	NM_013275.6(ANKRD11):c.1373_1376GAAA[2]:p.Glu461fs	coding	Pathogenic/Likely_pathogenic
16	89285159	TTC	T	C89285161T	ANKRD11	NM_013275.6(ANKRD11):c.1381_1382del:p.Glu461fs	coding	Pathogenic
16	89285186	AT	A	T89285193C	ANKRD11	NM_013275.6(ANKRD11):c.1355del:p.Asn452fs	coding	Pathogenic
16	89285260	GTC	G	T89285263A	ANKRD11	NM_013275.6(ANKRD11):c.1280_1281del:p.Arg427fs	coding	Pathogenic
16	89285337	GCTTT	G	C89285342G	ANKRD11	NM_013275.6(ANKRD11):c.1197_1200AAAG[1]:p.Lys401fs	coding	Pathogenic
16	89285395	T	TA	G89285397A	ANKRD11	NM_013275.6(ANKRD11):c.1146dup:p.Ile383fs	coding	Pathogenic
16	89285413	ATTTCG	A	G89285418T	ANKRD11	NM_013275.6(ANKRD11):c.1124_1128del:p.Thr375fs	coding	Pathogenic
16	89285543	GT	G	T89285545C	ANKRD11	NM_013275.6(ANKRD11):c.998del:p.Asn333fs	coding	Pathogenic
16	89285625	GGTGCGTCTTCCTCTTCTGAGCTC	G	G89285626T	ANKRD11	NM_013275.6(ANKRD11):c.894_916del:p.Glu298fs	coding	Pathogenic
16	89288653	CG	C	G89288654T	ANKRD11	NM_013275.6(ANKRD11):c.618del:p.His206fs	coding	Pathogenic
16	89290624	C	CCT	G89290627C	ANKRD11	NM_013275.6(ANKRD11):c.600_601dup:p.Gly201fs	coding	Pathogenic
16	89290724	CACGCTCGTTTCTCT	C	A89290725T	ANKRD11	NM_013275.6(ANKRD11):c.488_501del:p.Lys163fs	coding	Pathogenic
16	89291160	TC	T	C89291161T	ANKRD11	NM_013275.6(ANKRD11):c.249del:p.Arg84fs	coding	Pathogenic
16	89510471	GT	G	T89510486C	SPG7	NM_003119.4(SPG7):c.184-4del	noncoding	Benign
16	89524041	TACCGAGAGCGGCTGCGC	T	G89524045T	SPG7	NM_003119.4(SPG7):c.416_432del:p.Arg139fs	coding	Pathogenic
16	89524098	GCT	G	T89524102A	SPG7	NM_003119.4(SPG7):c.471_472TC[1]:p.Leu158fs	coding	Pathogenic
16	89524223	TG	T	G89524225A	SPG7	NM_003119.4(SPG7):c.596del:p.Gly199fs	coding	Pathogenic
16	89524249	TGAGTGAGGGTGCGGGAGGCCTGTGAGTGAGGGTGTGGGCACAGGCTGGCAGCCTGTGA	T	G89524258C	SPG7	NM_003119.4(SPG7):c.618+11_618+68del	noncoding	Benign/Likely_benign
16	89529488	CTG	C	T89529491G	SPG7	NM_003119.4(SPG7):c.771_772TG[1]:p.Val258fs	coding	Pathogenic
16	89529568	TT	C	T89529568C	SPG7	NM_003119.4(SPG7):c.850_851delinsC:p.Phe284fs	coding	Pathogenic
16	89529575	C	CT	G89529580T	SPG7	NM_003119.4(SPG7):c.861dup:p.Asn288Ter	coding	Pathogenic
16	89530753	T	TG	C89530756G	SPG7	NM_003119.4(SPG7):c.934dup:p.Ala312fs	coding	Pathogenic
16	89530793	TGTGGATTATCTGAAG	T	G89530797A	SPG7	NM_003119.4(SPG7):c.976_987+3del	coding	Pathogenic/Likely_pathogenic
16	89531960	CGGCCCCCCCGGCTGTGGGAAGACGCTGCT	C	C89531965A	SPG7	NM_003119.4(SPG7):c.1049_1077del:p.Pro350fs	coding	Pathogenic/Likely_pathogenic
16	89531961	GG	AGC	G89531961A	SPG7	NM_003119.4(SPG7):c.1045_1046delinsAGC:p.Gly349fs	coding	Pathogenic
16	89531962	G	GC	G89531970C	SPG7	NM_003119.4(SPG7):c.1053dup:p.Gly352fs	coding	Pathogenic
16	89532481	T	TGC	G89532485C	SPG7	NM_003119.4(SPG7):c.1171_1172dup:p.Ser392fs	coding	Pathogenic
16	89546656	AGGAGAGGCG	A	G89546662T	SPG7	NM_003119.3(SPG7):c.1454_1462delGGCGGGAGA:p.Arg485_Glu487del	noncoding	Pathogenic/Likely_pathogenic
16	89548065	TC	T	C89548067G	SPG7	NM_003119.4(SPG7):c.1617del:p.Val540fs	coding	Pathogenic
16	89548074	ACT	A	T89548078A	SPG7	NM_003119.4(SPG7):c.1626_1627TC[1]:p.Leu543fs	coding	Pathogenic
16	89550568	TTGG	T	T89550572G	SPG7	NM_003119.4(SPG7):c.1739_1741TGG[1]:p.Val581del	coding	Pathogenic
16	89553063	CTGTT	C	T89553066A	SPG7	NM_003119.4(SPG7):c.1867_1870del:p.Phe623fs	coding	Pathogenic
16	89553792	AG	A	G89553796C	SPG7	NG_008082.1:g.50400del	noncoding	Pathogenic
16	89554494	ACTGCTGGTGGCCAAGGC	A	G89554497A	SPG7	NM_003119.4(SPG7):c.2115_2131del:p.Leu706fs	coding	Pathogenic
16	89556891	CA	C	A89556894C	SPG7	NM_003119.4(SPG7):c.2189del:p.Asn730fs	coding	Pathogenic
16	89556918	T	TA	C89556922A	SPG7	NM_003119.4(SPG7):c.2216dup:p.Asn739fs	coding	Pathogenic
16	89556975	TG	T	G89556976A	SPG7	NM_003119.4(SPG7):c.2271del:p.Met757fs	coding	Pathogenic/Likely_pathogenic
16	89689302	AG	A	G89689303A	CDK10	NM_052988.5(CDK10):c.139del:p.Glu47fs	coding	Pathogenic
16	89690567	AC	A	C89690570A	CDK10	NM_052988.5(CDK10):c.178del:p.Gln60fs	coding	Pathogenic
16	89694227	CAT	C	A89694228G	CDK10	NM_052988.5(CDK10):c.664_665del:p.Met222fs	coding	Pathogenic
16	89737927	CT	C	T89737928C	FANCA	NM_000135.4(FANCA):c.*673del	coding	Benign
16	89738563	TACACGGGAGCTGGGCTGGTGTGCAGTGGCAGGTCCCGTCAGAAGAGATGAGGCTCCTGGGACAGGTCAGCGTCAGGGGCAGCCTGCTGTCTGCTCTGGAGGGCGGCGCTCACCTCTGGGTCGCAGTCCCCACGATCAG	T	A89738564C	FANCA	NM_000135.4(FANCA):c.4268_*37del:p.Ala1423_Ter1456delinsXaa	noncoding	Pathogenic
16	89738719	GGAGCAGGT	G	G89738720C	FANCA	NM_000135.4(FANCA):c.4261-19_4261-12del	coding	Pathogenic
16	89738900	GCT	G	C89738903T	FANCA	NM_000135.4(FANCA):c.4240_4241del:p.Ser1414fs	coding	Pathogenic
16	89739160	AGCTGGAGGTGAAACTGT	A	G89739164T	FANCA	NM_000135.4(FANCA):c.4123_4139del:p.Thr1375fs	coding	Pathogenic
16	89739174	CTG	C	T89739177C	FANCA	NM_000135.4(FANCA):c.4122_4123CA[1]:p.Thr1375fs	coding	Pathogenic
16	89739216	A	AC	G89739217C	FANCA	NM_000135.4(FANCA):c.4083_4084insG:p.Leu1362fs	coding	Pathogenic
16	89739217	GTACATGTCCACAGC	G	T89739218A	FANCA	NM_000135.4(FANCA):c.4069_4082del:p.Ala1357fs	coding	Pathogenic
16	89739234	C	CAT	G89739237A	FANCA	NM_000135.4(FANCA):c.4064_4065dup:p.Val1356fs	coding	Pathogenic
16	89739278	TAGGAG	T	G89739281A	FANCA	NM_000135.4(FANCA):c.4017_4021del:p.Ser1340fs	coding	Pathogenic
16	89739282	AGAG	A	G89739283A	FANCA	NM_000135.4(FANCA):c.4015_4017del:p.Leu1339del	coding	Pathogenic
16	89739284	AG	A	G89739285A	FANCA	NM_000135.4(FANCA):c.4015del:p.Leu1339fs	coding	Pathogenic/Likely_pathogenic
16	89739459	GCCCTGTGGGTGGAGGTACC	G	C89739460T	FANCA	NM_000135.4(FANCA):c.4010_4010+18del	coding	Pathogenic
16	89739998	CTCTG	C	T89740001A	FANCA	NM_000135.4(FANCA):c.3926_3929del:p.Thr1309fs	coding	Pathogenic
16	89740007	CT	C	T89740008G	FANCA	NM_000135.4(FANCA):c.3920del:p.Gln1307fs	coding	Pathogenic
16	89740009	GAA	G	A89740011G	FANCA	NM_000135.4(FANCA):c.3917_3918del:p.Phe1306fs	coding	Pathogenic
16	89740009	G	GA	G89740013A	FANCA	NM_000135.4(FANCA):c.3918dup:p.Gln1307fs	coding	Pathogenic
16	89740011	AAG	A	A89740014T	FANCA	NM_000135.4(FANCA):c.3913_3914CT[1]:p.Phe1306fs	coding	Pathogenic
16	89740070	GTGGAAAGCCTT	G	A89740074C	FANCA	NM_000135.4(FANCA):c.3847_3857del:p.Lys1283fs	coding	Pathogenic
16	89740801	T	TA	C89740803A	FANCA	NM_000135.4(FANCA):c.3828+2dup	coding	Pathogenic
16	89740818	G	GT	G89740820T	FANCA	NM_000135.4(FANCA):c.3813dup:p.His1272fs	coding	Pathogenic
16	89740841	GAGA	G	G89740849A	FANCA;ZNF276	NM_000135.2(FANCA):c.3788_3790delTCT:p.Phe1263del	coding	Pathogenic
16	89740855	GAAA	G	A89740857C	FANCA	NM_000135.4(FANCA):c.3774_3776del:p.Phe1259del	coding	Pathogenic
16	89742800	C	CTCCT	C89742805T	FANCA	NM_000135.4(FANCA):c.3761_3764dup:p.Leu1256fs	coding	Pathogenic
16	89742802	C	CCT	G89742812T	FANCA	NM_000135.4(FANCA):c.3755_3756AG[5]:p.Glu1255fs	coding	Pathogenic/Likely_pathogenic
16	89742802	CCT	C	T89742810G	FANCA	NM_000135.4(FANCA):c.3755_3756AG[3]:p.Glu1254fs	coding	Pathogenic
16	89742835	TCCTGATGTTTTCTTC	T	T89742841C	FANCA	NM_000135.4(FANCA):c.3715_3729del:p.Glu1239_Arg1243del	coding	Pathogenic
16	89742840	ATGTTT	A	G89742842C	FANCA	NM_000135.4(FANCA):c.3720_3724del:p.Glu1240fs	coding	Pathogenic
16	89742925	CA	C	A89742926G	FANCA	NM_000135.4(FANCA):c.3639del:p.Glu1214fs	coding	Pathogenic
16	89742925	CAG	C	A89742926G	FANCA	NM_000135.4(FANCA):c.3638_3639del:p.Pro1213fs	coding	Pathogenic
16	89742930	G	GA	G89742932A	FANCA	NM_000135.4(FANCA):c.3634dup:p.Ser1212fs	coding	Pathogenic
16	89742935	G	GA	C89742939A	FANCA	NM_000135.4(FANCA):c.3629dup:p.Leu1211fs	coding	Pathogenic
16	89742939	CTG	C	T89742940G	FANCA	NM_000135.4(FANCA):c.3627-3_3627-2del	noncoding	Pathogenic
16	89744957	ACTCGCTGGCAAACTGCCGGCCTTCTTGTAGCTTCTGCAGTTCCCGGGGCAGCGGGCTCTGGCAGTGTCTCCTCCACCGGCAGAGCAGCACAGGCTCCAGGCTCGGCCACCACACCTATGGAGAGAGCACCAGCACACAGATGAGGGTGGCTGAGATGGACACACCTCCGCTGCCCCAGCCATGACAAGCCCCCAGTGCTCCTACAGGCCACTACAGGCCCACACTCGCCCTGCGCTCTGGAACTCCAAAGCCAGTATTTTTTACGTCAATTAAGGCTCAAAGCAGTTCCATGAGGCATTTATTACCCACACTCATGGAAGACGTGGAATTTGGAGAAGGAAGAGCCTGGCCTAACGCAACAGTGAAGGGACCACACTCCCCTGAGCTGGGAACGAAACAGTGAAGGGACCACAGTCCCCTGAGCTGGGAATGAAACAGTGAAGGGACCACACTCCTCTGAGCTGGGAACAAAACAGTGAAGGGACCACACTCCTCTGAGCTGGGAACAAAACAGTGAAGGGACCACACTCCTCTGAGCTGGGAACGAAACAGTGAAGGGACCACACTGCCCTGAGCTGGGAACGAAACAGTGAAGGGACCACACTCCTCTGAGCTGGGAACAAAACAGTGAAGGGACCACACTGCCCTGAGCTGGGAACGAAACAGTGAAGGGACCACACTCCTCTGAGCTGGGAACAAAACAGTGAAGGGACCACACTGCCCTGAGCTGGGAACAAAACAGTGAAGGGACCACACTCCTCTGAGCTGGGAACAAAACAGTGAAGGGACCACACTGCCCTGAGCTGGGAACGAAACAGTGAAGGGACCACACTCCTCTGAGCTGGGAACGAAACAGTGAAGAGACCACACTGCCCTGAGCTGGGAATGCCTGGTCCTTGGATGCCCTCAGCTGAGAGGTGGCGTTCTAAACACCGAAGAGTTCATTTCTCACGAATTCCACCAACTGAGCTACAACTCGGTGCAAATGCAGCCTGCTTGGGGAGCTCCCTGGGGAACATGCCGTGCTGCGGAGAAAAAGGCCCTCCTGTCCCTGATGACCGAGAAGGAAGGGCGACAGCTGTGGTCTTCAGGACTAAGTGAGCCGCCAGGGAAGTGAGGGAAATGCTGCCCTCCTCCCACTCTCGGGACCCTGGGCTGCTAGGGGAGCCTGCTGAGCTCTGGCGGGAGCTGAGGTGAAGTCTCTGCTCCGAAGTCCCAAGAAAGCATAGTCAGGCGCAAGTGGGCCACAGTCATGCTCTCGTGACGGGGCACAGGCAGCCACCGTACAGCCTCCAGCCAGTGCACAACCCAAGACCGTGAACAAACAAGCCCTGCACCCCTGTGGACATGAAGGTGCCCGTGGGGTCTGAGTGGGGTCCACAGGGGAGAAGTCCTGCGGGTGCCATGGTGACGGCGGTGGGGGCAGGGACGGTTCTGGGAACTCAGGATGTGCGGCCCTCATCTGCTATGAGCTGGCATCTTTAACTGTGGCTTCCATGTCTCCTGATGCATTTTCCCTGAGATGGTAACACCCGTGATGGAGACGTGCTGCAGAGATGCCAGAGGCAGCTGTGGAGTCTCCCACTCATCCCCAAAACAAAACACCAAACAAGACAGCTGACCCACCAGAGCAGAGGTCAAAATTAAGGGGCATTTCGTCTGGCACTTGGCCAGTATGAAGTCGACCATCAGGGAGGGGTCTCTGCTCCGCAGACAGGCGTTCAGGAGGCCCTGCAGGAGAGAACGCAGCAGGAGGTCAGCGGTTTGTGAGGACCCACAACTAGTAGAGTGAAGGAACTCACAGGAAGCTGACAGGAGGATCCACCCACGGCGTTCTGAGAAGGCCACGAGAGGGGCTGAGGGAGCATCTCACCCTGAAGAAGTGGGCAGTGATGTCCTGTGTCAGGGCACCTCCGTGGGAGCAGAAGTTTCTCTGCAAAAGAGTTCAAGGCAGGTAAGAAAAGCCCACAGGAAGAGAGGCGAGACCAACATGCAGAGTGGCTGCTGTGGATTCAGTTTTGAGAAAAACACTCGCTAAGGCTTGGCGTGGCCACCATGGATGGTGCTCCTGGGCTGACCGGGCCTGGCGCCCTGGCTGTGCTGTCCTGAAACTTAACGGCTTCCCTGGGCGGCCAGATCCTGCAGCCCACCAGCTCTGGCCCAAACAGTCTTGTAGGCTCCAGGAAGAAGCCAGGGAGGCACAAGCAGCCGCAGGGAAGGGGACGCACCCGGAGCGTAGAACTGTGGTGAGGACGACACTAATACCAAGGGCCAACCATCCTCTGGTCCCTTCACTAACCAAGTGCTGTCTATGGTGTTTTCCTGTCTGTCGGCTGTCACGTGCCAACTGAGAGCTTTCTGAAAAACAGCCATTCATAAGAATTCAAAGGAGACCATAGTGATTTTCTGAAAGCTTTTGCTAGTCTCACGTCCTCTGCTTTCCTTGTCACATTTTGAAGTGCTGCACAAGGCCGGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGTGGATCACGAGGTCAGGAGTTCAAGACCAGACTGACCAACATGGTAAAACGTCATCTCTACTAAAAATACAAAACTTAGCCGGTCATGGCGGCAGGCACCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCTGGGAGGCGGAGGTTGCAGGGTGAGCCAAGATTTCACTGCTGCACTCCAGCCTGGGCGACAGAGCAAGACTCTGTCTCAAAAAATAAATAAATAAATAAATAAATAAAAATATAAAATGCTGCACAGCTGGCATGGAACCTGAATTCCATCTCTCACATTTGTGCATCTTCAAAAACAAGAAAAAGGCCTTCGGGAGCAGAAGCTGCTCTCTGTAGAGTGGGAGGGGCTGGTATCCGTCTCCCCAGCTCTGACCAACTGGGTCCCTACGCTGCCCGTCCCCACAGCGAGTGTCACTTCTTTTTATTTGAGACAAGAGTTTCGCTCTGTCACCCAGGCTGGAGTGTAGTGGTGGGATCTTGGCTCAGTGCAACTCTGCCTCCTGGGCTCAATTACTCCTCCTGACCCAGCCTCTCAAGTAGGTGGGAGTACAGGCGTGCACCACCATACCCAGCTAATTTTTCTATTTTTTGTAGAAACAGGGTTTTGTCATGTTGCCCAGGCTGGTCTCGAACTCCTGGGCTCAAGTGATCCCCCACCTTTCCAGAGTGCTGGGATTACGGGCGTGAGCCACCGCACCCAGCCTGCTGGTTAAGATCACCCTGCAACTCACGCTGGGCAGTGTCTAAAATGGAAGATAACTGGGCTGCCTGGCAGGCAACAGCGGTAGTCAGATCACCACAAGGCTTTTTTTACACATGAAGCATGTTGAGATTAGAAATAAATGAACCGAGGTGCGTGGCACACAAAATGGTCTGTACGATTCCATGTGTCAAAATCATTAAAACTTGAGGGAAACTAAAGGAACTCAAACTTGGGAGAAGGCAACCTACAGCTGGTTTGGTGATGTGCTGGTCGCCGTCCTGGCTGTGGGTGGGGTCCTCCCTCACATGGCATTCCAGACACTGTTCCCTATTTGACTTTGAACCCTTTCCTCAGTAATTCACACGGTCAGTACACGCATGGAGGCTGCAAGAGCTGCTGTTAGCGCCACAGGCACTGACAGATCGGACGGACACGTGCACACGGGGCACCTACCATCTCAGAGTTGACCAAGTGGAAGAACTGCTCGCATCTGGCAGTGATGGGCTGTTCTGCCTGGAAGCTGCTGCCGCAGAGGACAGACGAAGGCAGGCGGAGGAGGAT	A	T89744959C	FANCA	NM_000135.4(FANCA):c.3241_3626+1del	noncoding	Pathogenic
16	89745024	T	TC	T89745026C	FANCA	NM_000135.4(FANCA):c.3560dup:p.His1188fs	coding	Pathogenic
16	89745026	T	TC	T89745029C	FANCA	NM_000135.4(FANCA):c.3558dup:p.Arg1187fs	coding	Pathogenic
16	89745062	GCCA	G	C89745067A	FANCA	NM_000135.4(FANCA):c.3517_3519TGG[1]:p.Trp1174del	coding	Pathogenic
16	89746833	TGAA	T	A89746838T	FANCA	NM_000135.4(FANCA):c.3400_3402TTC[1]:p.Phe1135del	coding	Pathogenic
16	89746839	AGTGG	A	T89746841C	FANCA	NM_000135.4(FANCA):c.3396_3399del:p.His1133fs	coding	Pathogenic
16	89746840	GT	G	T89746841G	FANCA	NM_000135.4(FANCA):c.3398del:p.His1133fs	coding	Pathogenic
16	89746841	TG	T	G89746844C	FANCA	NM_000135.4(FANCA):c.3397del:p.His1133fs	coding	Pathogenic
16	89748739	GGACA	G	A89748743G	FANCA	NM_000135.4(FANCA):c.3264_3267del:p.Val1089fs	coding	Pathogenic
16	89749728	A	AC	G89749731C	FANCA	NM_000135.4(FANCA):c.3239+1dup	noncoding	Pathogenic
16	89749783	C	CCCGCTTGTCAGAGCCTGGAG	T89749807C	FANCA	NM_000135.4(FANCA):c.3166_3185dup:p.Trp1063_Ser1064insSerArgLeuTer	coding	Pathogenic
16	89752176	CACCAAAG	C	G89752183T	FANCA	NM_000135.4(FANCA):c.3021_3027del:p.Phe1008fs	coding	Pathogenic
16	89758647	CT	C	T89758648G	FANCA	NM_000135.4(FANCA):c.2910del:p.Gly972fs	coding	Pathogenic/Likely_pathogenic
16	89761948	CCGTTCAGTATCTGAAAGAGCATCAGCTTCAGGTTGAATTTCCAGCTCCAGGTGTAACCAGTCTTGGTAAGTTAA	C	G89761950T	FANCA	NC_000016.10:g.89761949_89762022del	coding	Pathogenic
16	89761955	G	GTATCTGAAAGAGCATCAGC	T89761976A	FANCA	NM_000135.4(FANCA):c.2827_2845dup:p.Thr949delinsSerTer	coding	Pathogenic
16	89761961	G	GA	G89761965A	FANCA	NM_000135.4(FANCA):c.2839dup:p.Ser947fs	coding	Pathogenic
16	89761970	T	TCAGCTTCAGGTTGAATTTC	C89761995T	FANCA	NM_000135.4(FANCA):c.2812_2830dup:p.Asp944delinsGlyAsnSerThrTer	coding	Pathogenic
16	89762014	GT	G	T89762015A	FANCA	NM_000135.4(FANCA):c.2786del:p.Tyr929fs	coding	Pathogenic
16	89764927	CTG	C	G89764933C	FANCA	NM_000135.4(FANCA):c.2735_2736CA[2]:p.His913fs	coding	Pathogenic
16	89764931	G	GT	G89764933T	FANCA	NM_000135.4(FANCA):c.2736dup:p.His913fs	coding	Pathogenic
16	89764936	CAG	C	A89764945G	FANCA	NM_000135.4(FANCA):c.2722_2723CT[4]:p.Trp911fs	coding	Pathogenic
16	89764993	GA	G	A89764996G	FANCA	NM_000135.4(FANCA):c.2674del:p.Ser892fs	coding	Pathogenic
16	89765058	GAACTGA	G	T89765068A	FANCA	NC_000016.10:g.89765059_89765064del	coding	Pathogenic
16	89767141	CT	C	T89767146A	FANCA	NM_000135.4(FANCA):c.2600del:p.Lys867fs	coding	Pathogenic
16	89767153	G	GCC	T89767156C	FANCA	NM_000135.4(FANCA):c.2587_2588dup:p.Leu864fs	coding	Pathogenic
16	89767195	AG	A	G89767196A	FANCA	NM_000135.4(FANCA):c.2546del:p.Ser849fs	coding	Pathogenic
16	89767205	CAGAG	C	A89767210T	FANCA	NM_000135.4(FANCA):c.2529_2530CT[2]:p.Leu845fs	coding	Pathogenic
16	89767205	CAG	C	A89767212T	FANCA	NM_000135.4(FANCA):c.2529_2530CT[3]:p.Cys846fs	coding	Pathogenic
16	89767217	GA	G	A89767220T	FANCA	NM_000135.4(FANCA):c.2524del:p.Ser842fs	coding	Pathogenic/Likely_pathogenic
16	89769989	C	CA	C89769992A	FANCA	NM_000135.4(FANCA):c.2351dup:p.Leu784fs	coding	Pathogenic
16	89770013	C	CA	G89770015A	FANCA	NM_000135.4(FANCA):c.2327dup:p.Ser777fs	coding	Pathogenic
16	89770603	TGACAGAAA	T	A89770607G	FANCA	NM_000135.4(FANCA):c.2175_2182del:p.Phe726fs	coding	Pathogenic/Likely_pathogenic
16	89770613	A	AC	G89770615C	FANCA	NM_000135.4(FANCA):c.2172dup:p.Ser725fs	coding	Pathogenic
16	89771675	T	TC	A89771676C	FANCA	NM_000135.4(FANCA):c.2151+2_2151+3insG	noncoding	Pathogenic
16	89771707	TG	T	G89771708T	FANCA	NM_000135.4(FANCA):c.2121del:p.Asn707fs	coding	Pathogenic
16	89771762	GC	G	C89771765A	FANCA	NM_000135.4(FANCA):c.2066del:p.Gly689fs	coding	Pathogenic
16	89778770	T	TAC	G89778772C	FANCA	NM_000135.4(FANCA):c.1826+30_1826+31insTG	noncoding	Benign
16	89778802	T	TC	T89778804C	FANCA	NM_000135.4(FANCA):c.1824dup:p.Arg609fs	coding	Pathogenic
16	89778805	T	TA	C89778806A	FANCA	NM_000135.4(FANCA):c.1821_1822insT:p.Lys608Ter	coding	Pathogenic
16	89778811	ACT	A	C89778814A	FANCA	NM_000135.4(FANCA):c.1812_1813AG[1]:p.Glu605fs	coding	Pathogenic
16	89778817	T	TA	C89778821A	FANCA	NM_000135.4(FANCA):c.1809dup:p.Ile604fs	coding	Pathogenic
16	89778826	C	CACGGG	G89778833C	FANCA	NM_000135.4(FANCA):c.1796_1800dup:p.Val601fs	coding	Pathogenic/Likely_pathogenic
16	89778843	TTGGGGAGCTG	T	G89778848A	FANCA	NM_000135.4(FANCA):c.1777-3_1783del	coding	Pathogenic
16	89778887	GGAAA	G	A89778889T	FANCA	NM_000135.4(FANCA):c.1777-41_1777-38del	noncoding	Benign
16	89779864	CCTACCTGGCCT	C	T89779866C	FANCA	NM_000135.4(FANCA):c.1709_1715+4del	noncoding	Pathogenic
16	89779880	GA	G	A89779881C	FANCA	NM_000135.4(FANCA):c.1703del:p.Val568fs	coding	Pathogenic
16	89779953	T	TG	C89779958G	FANCA	NM_000135.4(FANCA):c.1630dup:p.His544fs	coding	Pathogenic
16	89782869	TC	T	C89782873A	FANCA	NM_000135.4(FANCA):c.1615del:p.Asp539fs	coding	Pathogenic
16	89782878	GA	G	A89782879T	FANCA	NM_000135.4(FANCA):c.1606del:p.Ser536fs	coding	Pathogenic
16	89783005	GCCTTGAGGTCGGCCAGCCGTGTCTTGGCCAATGAGATGTAGTCTGTGAGGAGGGAGCGGTACTTGCCGGGAACCAGGGGTGGGTGGAGAATGTGCA	G	T89783009G	FANCA	NM_000135.4(FANCA):c.1472_1566+1del	noncoding	Pathogenic
16	89783064	G	GT	A89783066T	FANCA	NM_000135.4(FANCA):c.1508dup:p.Tyr503Ter	coding	Pathogenic
16	89784864	C	CG	A89784869G	FANCA	NM_000135.4(FANCA):c.1459dup:p.Arg487fs	coding	Pathogenic
16	89784893	CA	C	A89784895G	FANCA	NM_000135.4(FANCA):c.1430del:p.Leu477fs	coding	Pathogenic
16	89784906	AG	A	G89784908A	FANCA	NM_000135.4(FANCA):c.1417del:p.Leu473fs	coding	Pathogenic
16	89791537	CTAGTT	C	T89791538A	FANCA	NM_000135.4(FANCA):c.1226-6_1226-2del	noncoding	Pathogenic
16	89791949	TG	T	G89791951A	FANCA	NM_000135.4(FANCA):c.1202del:p.Pro401fs	coding	Pathogenic
16	89791955	GCAGA	G	G89791958A	FANCA	NM_000135.4(FANCA):c.1193_1196del:p.Val398fs	coding	Pathogenic
16	89791957	AG	A	G89791958A	FANCA	NM_000135.4(FANCA):c.1194del:p.Cys399fs	coding	Pathogenic
16	89791986	ACT	A	C89791991G	FANCA	NM_000135.4(FANCA):c.1164_1165del:p.Arg388fs	coding	Pathogenic
16	89792004	TC	T	C89792006T	FANCA	NM_000135.4(FANCA):c.1147del:p.Glu383fs	coding	Pathogenic
16	89792008	GCG	AAA	G89792008A	FANCA	NM_000135.4(FANCA):c.1142_1144delinsTTT:p.Thr381_Gln382delinsIleTer	coding	Pathogenic
16	89792033	GCCAA	G	C89792039T	FANCA	NM_000135.4(FANCA):c.1111_1114TTGG[1]:p.Val372fs	coding	Pathogenic
16	89792478	TAC	T	C89792480G	FANCA	NM_000135.4(FANCA):c.1074_1075del:p.Tyr359fs	coding	Pathogenic
16	89792518	ACT	A	C89792525G	FANCA	NM_000135.4(FANCA):c.1028_1029AG[3]:p.Glu345fs	coding	Pathogenic/Likely_pathogenic
16	89792547	GC	G	C89792548T	FANCA	NM_000135.4(FANCA):c.1007-1del	coding	Pathogenic
16	89795900	GCCTA	G	A89795904T	FANCA	NM_000135.4(FANCA):c.1006+2_1006+5del	noncoding	Pathogenic
16	89795921	TGTGA	T	G89795928A	FANCA	NM_000135.4(FANCA):c.983_986TCAC[1]:p.His330fs	coding	Pathogenic
16	89795932	ATC	A	C89795934G	FANCA	NM_000135.4(FANCA):c.978_979del:p.Gln326fs	coding	Pathogenic
16	89795976	GGAA	AG	G89795976A	FANCA	NM_000135.4(FANCA):c.933_936delinsCT:p.Ser312fs	coding	Pathogenic
16	89795994	CGT	C	G89795999C	FANCA	NM_000135.4(FANCA):c.912_913AC[2]:p.Thr306fs	coding	Pathogenic
16	89799164	ACCAG	A	C89799166A	FANCA	NM_000135.4(FANCA):c.891_893+1del	noncoding	Pathogenic
16	89799207	T	TC	A89799210C	FANCA	NM_000135.4(FANCA):c.851dup:p.Val285fs	coding	Pathogenic
16	89799600	CT	C	T89799602A	FANCA	NM_000135.4(FANCA):c.826+4del	noncoding	Pathogenic
16	89799622	AGTACATCAACCGTG	A	G89799623A	FANCA	NM_000135.4(FANCA):c.795_808del:p.Thr266fs	coding	Pathogenic
16	89803266	AT	A	T89803272C	FANCA	NM_000135.4(FANCA):c.784del:p.Met262fs	coding	Pathogenic
16	89805344	GCA	G	C89805347G	FANCA	NM_000135.4(FANCA):c.641_642TG[1]:p.Cys215fs	coding	Pathogenic
16	89810705	ACCTGTATTTTCCATAATTCTTGACAGAAGGAAAGACGGGAGAACATACTGTGTGCCAATAAATACTGAGCAAACTCTAACAGGGAAGACAGCTTCTTCTGAAAAGAGAGATTACATTTTTTAAAAAACAAATTACCTGAAACAATACTAAAGCTATGTCCTATTTTCCCAACCAGCTTAAAAGTAACAACGGGCAGGTTTCCTCATCTTTGCTGGTGTCTTACTCTCTGCTCCACAGTCAGCAGCACAGGGTGACTGGTCTCCGCTGGAGCCGTGCAGATCTGTCCCACGCTAGAGGCAACCATCCCGGCTGAGAGAATACCCACGGGAACCCCCAGCCTTGAGGCTTGATCCTGCAAAGCAGAG	A	G89810709T	FANCA	NM_000135.4(FANCA):c.285_522+1del	noncoding	Pathogenic
16	89810741	CG	C	G89810744A	FANCA	NM_000135.4(FANCA):c.487del:p.Arg163fs	coding	Pathogenic
16	89810781	C	CT	A89810783T	FANCA	NM_000135.4(FANCA):c.447dup:p.Glu150fs	coding	Pathogenic
16	89810806	AAAAG	A	A89810808G	FANCA	NM_000135.4(FANCA):c.427-8_427-5del	noncoding	Pathogenic
16	89810937	CCA	C	C89810940G	FANCA	NM_000135.4(FANCA):c.414_415TG[1]:p.Val139fs	coding	Pathogenic
16	89810953	A	AG	T89810957G	FANCA	NM_000135.4(FANCA):c.401dup:p.Val135fs	coding	Pathogenic/Likely_pathogenic
16	89810958	G	GA	C89810960A	FANCA	NM_000135.4(FANCA):c.396dup:p.His133fs	coding	Pathogenic
16	89811020	A	AGAAT	A89811025G	FANCA	NM_000135.4(FANCA):c.331_334dup:p.Leu112fs	coding	Pathogenic
16	89811035	AC	A	C89811040A	FANCA	NM_000135.4(FANCA):c.319del:p.Val107fs	coding	Pathogenic
16	89811060	GC	AA	G89811060A	FANCA	NM_000135.4(FANCA):c.294_295delinsTT:p.Leu98_Gln99delinsPheTer	coding	Pathogenic
16	89811070	GC	G	C89811072T	FANCA	NC_000016.10:g.89811071del	coding	Pathogenic
16	89814518	AC	A	C89814520T	FANCA	NM_000135.4(FANCA):c.283+1del	noncoding	Pathogenic
16	89814561	TCA	T	C89814564G	FANCA	NM_000135.4(FANCA):c.238_239TG[1]:p.Cys80_Asp81delinsTer	coding	Pathogenic/Likely_pathogenic
16	89814563	ACAGT	A	G89814566A	FANCA	NM_000135.4(FANCA):c.236_239del:p.Asp79fs	coding	Pathogenic
16	89814564	CA	C	A89814565G	FANCA	NM_000135.4(FANCA):c.238del:p.Cys80fs	coding	Pathogenic
16	89814566	GTCAA	G	A89814570C	FANCA	NM_000135.4(FANCA):c.233_236del:p.Ile78fs	coding	Pathogenic
16	89814580	TGA	T	G89814585C	FANCA	NM_000135.4(FANCA):c.217_218TC[2]:p.Leu74fs	coding	Pathogenic
16	89815883	C	CG	A89815884G	FANCA	NM_000135.4(FANCA):c.182_183insC:p.Leu61fs	coding	Pathogenic
16	89815892	A	AT	C89815895T	FANCA	NM_000135.4(FANCA):c.173dup:p.Asn58fs	coding	Pathogenic
16	89815894	T	TA	C89815895A	FANCA	NM_000135.4(FANCA):c.171_172insT:p.Asn58Ter	coding	Pathogenic
16	89815968	TC	T	C89815971T	FANCA	NM_000135.4(FANCA):c.97del:p.Glu33fs	coding	Pathogenic
16	89815977	AC	A	C89815980T	FANCA	NM_000135.4(FANCA):c.88del:p.Val30fs	coding	Pathogenic
16	89816546	CGGCCCAGGCCCTCCGGCGGCCCCCTG	C	C89816549T	FANCA	NM_000135.4(FANCA):c.44_69del:p.Pro15fs	coding	Pathogenic
16	89816565	GC	G	C89816570T	FANCA	NM_000135.4(FANCA):c.50del:p.Gly17fs	coding	Pathogenic
16	90036547	C	CA	T90036549A	GAS8	NM_001481.3(GAS8):c.718dup:p.Ile240fs	coding	Pathogenic
16	90043348	G	GC	T90043355C	GAS8	NM_001481.3(GAS8):c.*9dup	noncoding	Benign
17	562753	GAAAA	G	A562761C	VPS53	NM_001128159.3(VPS53):c.1314-12_1314-9del	noncoding	Benign
17	562753	G	GAA	C562765A	VPS53	NM_001128159.3(VPS53):c.1314-19_1314-18dup	noncoding	Benign
17	801020	TCTC	T	T801025A	NXN	NM_022463.5(NXN):c.1231_1233GAG[1]:p.Glu412del	coding	Pathogenic
17	1485800	C	CCCGCCCCCCGCA	A1485821C	MYO1C	NM_001080779.2(MYO1C):c.76-1509_76-1498dup	noncoding	Benign
17	1496097	CTG	C	G1496099T	INPP5K	NM_016532.4(INPP5K):c.1251_1252del:p.Asn417fs	coding	Pathogenic
17	1650818	TC	T	C1650821G	PRPF8	NM_006445.4(PRPF8):c.6991del:p.Glu2331fs	coding	Pathogenic
17	1650839	T	TC	T1650845C	PRPF8	NM_006445.4(PRPF8):c.6970dup:p.Glu2324fs	coding	Pathogenic/Likely_pathogenic
17	1673795	ACTT	A	C1673799G	PRPF8	NM_006445.4(PRPF8):c.3391_3393AAG[1]:p.Lys1132del	coding	Pathogenic
17	1728515	AC	A	C1728516G	WDR81	NM_001163673.1(WDR81):c.59-1864del	coding	Pathogenic
17	1733704	CAG	C	A1733705G	WDR81	NM_152348.4(WDR81):c.1515_1516del:p.Gly506fs	coding	Pathogenic
17	1747320	AAAG	A	A1747325T	SERPINF2	NM_000934.3(SERPINF2):c.525_527AGA[1]:p.Glu176del	coding	Pathogenic
17	1747357	GGGCAA	G	G1747358A	SERPINF2	NM_000934.3(SERPINF2):c.561_565del:p.Lys189fs	coding	Pathogenic
17	1762114	G	GT	A1762116T	SERPINF1	NM_002615.7(SERPINF1):c.-9+2dup	noncoding	Pathogenic
17	1769884	GGT	G	T1769886G	SERPINF1	NM_002615.7(SERPINF1):c.119_120del:p.Val40fs	coding	Pathogenic
17	1775066	GT	G	T1775067A	SERPINF1	NM_002615.7(SERPINF1):c.653del:p.Val218fs	coding	Pathogenic
17	1776669	GCA	G	C1776670G	SERPINF1	NM_002615.7(SERPINF1):c.925_926del:p.Gln309fs	coding	Pathogenic
17	1777333	CTCACCTTCCCGCTGGACTA	C	C1777341A	SERPINF1	NM_002615.7(SERPINF1):c.1152_1170del:p.Phe384fs	coding	Pathogenic
17	1777396	ACAGGGGCCCTTCTCTTCATTGGCAAGATTCTGGACCC	A	T1777406C	SERPINF1	NM_002615.7(SERPINF1):c.1217_1253del:p.Leu406fs	coding	Pathogenic
17	2033836	TG	T	G2033838A	DPH1	NM_001346576.1(DPH1):c.-10del	coding	Pathogenic
17	2593657	C	CGGAGCT	G2593669T	PAFAH1B1	NM_000430.4(PAFAH1B1):c.-534_-529dup	noncoding	Benign
17	2665408	C	CTA	G2665412A	PAFAH1B1	NM_000430.4(PAFAH1B1):c.71_72dup:p.Glu25fs	coding	Pathogenic
17	2666030	TAA	T	A2666034G	PAFAH1B1	NM_000430.4(PAFAH1B1):c.136_137del:p.Lys46fs	coding	Pathogenic
17	2666046	CT	C	T2666050G	PAFAH1B1	NM_000430.4(PAFAH1B1):c.152del:p.Leu51fs	coding	Pathogenic
17	2666052	GA	G	A2666060T	PAFAH1B1	NM_000430.4(PAFAH1B1):c.162del:p.Lys54fs	coding	Pathogenic
17	2666052	G	GA	T2666061A	PAFAH1B1	NM_000430.4(PAFAH1B1):c.162dup:p.Trp55fs	coding	Pathogenic
17	2666073	AT	A	T2666075A	PAFAH1B1	NM_000430.4(PAFAH1B1):c.177del:p.Arg60fs	coding	Pathogenic
17	2666087	G	GAAGGTAAC	T2666096A	PAFAH1B1	NM_000430.4(PAFAH1B1):c.190_192+5dup	coding	Pathogenic
17	2667084	T	TCC	G2667089C	PAFAH1B1	NM_000430.4(PAFAH1B1):c.288_289dup:p.Arg97fs	coding	Pathogenic
17	2667103	T	TA	T2667105A	PAFAH1B1	NM_000430.4(PAFAH1B1):c.305dup:p.Tyr102Ter	coding	Pathogenic
17	2667142	A	AT	C2667147T	PAFAH1B1	NM_000430.4(PAFAH1B1):c.347dup:p.His117fs	coding	Pathogenic
17	2670201	T	TA	G2670205A	PAFAH1B1	NM_000430.4(PAFAH1B1):c.441dup:p.Gly148fs	coding	Pathogenic
17	2670215	ACT	A	C2670218G	PAFAH1B1	NM_000430.4(PAFAH1B1):c.453_454CT[1]:p.Ser152fs	coding	Pathogenic
17	2670276	T	TA	T2670278A	PAFAH1B1	NM_000430.4(PAFAH1B1):c.514dup:p.Met172fs	coding	Pathogenic
17	2670284	TTAAAC	T	A2670287T	PAFAH1B1	NM_000430.4(PAFAH1B1):c.524_528del:p.Lys175fs	coding	Pathogenic
17	2670296	A	AT	C2670301T	PAFAH1B1	NM_000430.4(PAFAH1B1):c.537dup:p.Gln180fs	coding	Pathogenic
17	2670296	AT	A	T2670300C	PAFAH1B1	NM_000430.4(PAFAH1B1):c.537del:p.Gln180fs	coding	Pathogenic
17	2672723	GATAAAACT	G	C2672730A	PAFAH1B1	NM_000430.4(PAFAH1B1):c.644_651del:p.Thr215fs	coding	Pathogenic
17	2672730	CTA	C	T2672733A	PAFAH1B1	NM_000430.4(PAFAH1B1):c.645_646TA[1]:p.Ile216fs	coding	Pathogenic
17	2672741	TG	T	G2672744A	PAFAH1B1	NM_000430.4(PAFAH1B1):c.658del:p.Glu220fs	coding	Pathogenic
17	2672750	C	CA	C2672754A	PAFAH1B1	NM_000430.4(PAFAH1B1):c.667dup:p.Thr223fs	coding	Pathogenic
17	2674087	CAG	C	G2674091A	PAFAH1B1	NM_000430.4(PAFAH1B1):c.701_702GA[1]:p.Glu235fs	coding	Pathogenic
17	2674103	A	AT	G2674105T	PAFAH1B1	NM_000430.4(PAFAH1B1):c.716dup:p.Met239fs	coding	Pathogenic
17	2674112	C	CCAAAT	G2674121A	PAFAH1B1	NM_000430.4(PAFAH1B1):c.728_732dup:p.Asp245fs	coding	Pathogenic
17	2674130	C	CTGAT	A2674135T	PAFAH1B1	NM_000430.4(PAFAH1B1):c.743_746dup:p.Ala250fs	coding	Pathogenic
17	2674158	CTG	C	T2674161C	PAFAH1B1	NM_000430.4(PAFAH1B1):c.771_772TG[1]:p.Val258fs	coding	Pathogenic
17	2674158	CTG	TGACCCA	C2674158T	PAFAH1B1	NM_000430.4(PAFAH1B1):c.770_772delinsTGACCCA:p.Thr257fs	coding	Pathogenic
17	2674216	G	GC	A2674218C	PAFAH1B1	NM_000430.4(PAFAH1B1):c.829dup:p.His277fs	coding	Pathogenic
17	2676507	TAAAA	T	A2676511G	PAFAH1B1	NM_000430.4(PAFAH1B1):c.907_910del:p.Lys303fs	coding	Pathogenic
17	2676507	TA	T	A2676514G	PAFAH1B1	NM_000430.4(PAFAH1B1):c.910del:p.Ser304fs	coding	Pathogenic
17	2676514	AG	A	G2676515T	PAFAH1B1	NM_000430.4(PAFAH1B1):c.911del:p.Ser304fs	coding	Pathogenic
17	2676536	T	TG	C2676538G	PAFAH1B1	NM_000430.4(PAFAH1B1):c.933dup:p.Leu312fs	coding	Pathogenic
17	2676561	TATTA	ATCTTAAT	T2676561A	PAFAH1B1	NM_000430.4(PAFAH1B1):c.957_961delinsATCTTAAT:p.Ile320_Lys321delinsSerTer	coding	Pathogenic
17	2676591	GTGCCTTATGACCCTCGTAAGTT	G	C2676595A	PAFAH1B1	NM_000430.4(PAFAH1B1):c.991_1002+10del	coding	Pathogenic
17	2680131	TTTACTGAGTCAAATAACTTTTTTGTTTTTAAGGTGGGTCATGATAACTGGGTACGTGGAG	T	A2680134C	PAFAH1B1	NM_000430.4(PAFAH1B1):c.1003-30_1032del	noncoding	Pathogenic
17	2680178	C	CT	G2680180T	PAFAH1B1	NM_000430.4(PAFAH1B1):c.1018dup:p.Trp340fs	coding	Pathogenic
17	2680184	ACGTGGAGT	A	C2680185T	PAFAH1B1	NM_000430.4(PAFAH1B1):c.1024_1031del:p.Arg342fs	coding	Pathogenic
17	2680205	TG	T	G2680211A	PAFAH1B1	NM_000430.4(PAFAH1B1):c.1050del:p.Lys351fs	coding	Pathogenic
17	2680205	T	TG	A2680212G	PAFAH1B1	NM_000430.4(PAFAH1B1):c.1050dup:p.Lys351fs	coding	Pathogenic
17	2680223	GA	G	A2680224G	PAFAH1B1	NM_000430.4(PAFAH1B1):c.1063del:p.Ser355fs	coding	Pathogenic
17	2680260	TA	T	A2680261C	PAFAH1B1	NM_000430.4(PAFAH1B1):c.1100del:p.Tyr367fs	coding	Pathogenic
17	2680324	TG	T	G2680325T	PAFAH1B1	NM_000430.4(PAFAH1B1):c.1159+5del	noncoding	Pathogenic
17	3197642	AATCTGCTCATC	A	G3197647T	OR1A2	NM_012352.2(OR1A2):c.129_139del:p.Leu44fs	coding	Benign
17	3476302	T	TA	C3476307A	ASPA	NM_000049.4(ASPA):c.147dup:p.Pro50fs	coding	Pathogenic
17	3481603	C	CA	T3481611A	ASPA	NM_001321336.1(SPATA22):c.-73-12212dup	coding	Pathogenic/Likely_pathogenic
17	3481671	C	CA	G3481676A	ASPA	NM_000049.4(ASPA):c.309dup:p.Asp104fs	coding	Pathogenic
17	3483501	TTCTCTGGCTCCAC	T	C3483503A	ASPA	NM_000049.4(ASPA):c.437_449del:p.Ser146fs	coding	Pathogenic
17	3499015	AAAAG	A	A3499022G	ASPA	NM_001321336.1(SPATA22):c.-74+14393_-74+14396del	coding	Pathogenic/Likely_pathogenic
17	3512325	TC	T	C3512326A	TRPV3	NM_145068.4(TRPV3):c.*1591del	noncoding	Benign
17	3513849	GCA	G	C3513852G	TRPV3	NM_145068.4(TRPV3):c.*64_*65TG[1]	noncoding	Benign
17	3640221	GCTGA	G	G3640224A	CTNS	NM_004937.3(CTNS):c.18_21del:p.Thr7fs	coding	Pathogenic
17	3640263	ATG	A	T3640266G	CTNS	NM_004937.3(CTNS):c.58_59TG[1]:p.Cys20_Glu21delinsTer	coding	Pathogenic
17	3640264	TGTG	T	G3640267A	CTNS	NM_004937.3(CTNS):c.61_61+2del	coding	Pathogenic
17	3647472	T	TG	T3647474G	CTNS	NM_004937.3(CTNS):c.91dup:p.Val31fs	coding	Pathogenic
17	3647500	AC	A	C3647502A	CTNS	NM_004937.3(CTNS):c.120del:p.Asn41fs	coding	Pathogenic
17	3648903	ATATTACTATCCTTGAGCTCCC	A	T3648904C	CTNS	NM_004937.3(CTNS):c.198_218del:p.Ile67_Pro73del	coding	Pathogenic/Likely_pathogenic
17	3648911	ATCCTT	A	T3648912G	CTNS	NM_004937.3(CTNS):c.206_210del:p.Ile69fs	coding	Pathogenic
17	3655026	CCT	C	C3655029T	CTNS	NM_004937.3(CTNS):c.255_256CT[1]:p.Ser86fs	coding	Pathogenic
17	3656502	CT	C	T3656504C	CTNS	NM_004937.3(CTNS):c.479del:p.Phe160fs	coding	Pathogenic
17	3656539	G	GC	T3656542C	CTNS	NM_004937.3(CTNS):c.516dup:p.Tyr173fs	coding	Pathogenic
17	3656542	TAC	T	C3656544G	CTNS	NM_004937.3(CTNS):c.519_520del:p.Tyr173_Ser174delinsTer	coding	Pathogenic
17	3656572	GTGCCCTACATCAAGGTACGGCCTTGCC	G	A3656584T	CTNS	NM_004937.3(CTNS):c.559_561+24del	coding	Pathogenic/Likely_pathogenic
17	3656759	C	CA	C3656761A	CTNS	NM_004937.3(CTNS):c.646dup:p.Thr216fs	coding	Pathogenic
17	3658015	A	AGC	T3658021C	CTNS	NM_004937.3(CTNS):c.694_695CG[3]:p.Val233fs	coding	Pathogenic/Likely_pathogenic
17	3658018	G	GC	G3658020C	CTNS	NM_004937.3(CTNS):c.696dup:p.Val233fs	coding	Pathogenic
17	3658074	ACCA	CG	A3658074C	CTNS	NM_004937.3(CTNS):c.751_754delinsCG:p.Thr251fs	coding	Pathogenic
17	3658081	TCGTGGCTGCAGTGGGAGTGACCA	T	G3658094T	CTNS	NM_004937.3(CTNS):c.771_793del:p.Gly258fs	coding	Pathogenic
17	3658112	GCA	G	C3658113G	CTNS	NM_004937.3(CTNS):c.790_791del:p.Gln264fs	coding	Pathogenic
17	3658151	C	CA	C3658153A	CTNS	NM_004937.3(CTNS):c.829dup:p.Thr277fs	coding	Pathogenic
17	3658163	G	GT	A3658165T	CTNS	NM_004937.3(CTNS):c.841dup:p.Tyr281fs	coding	Pathogenic
17	3659926	C	CG	C3659932G	CTNS	NM_004937.3(CTNS):c.926dup:p.Ser310fs	coding	Pathogenic/Likely_pathogenic
17	3662311	CA	C	A3662326T	CTNS	NM_004937.3(CTNS):c.*1957del	noncoding	Benign
17	3662751	T	TC	A3662753C	CTNS	NM_004937.3(CTNS):c.*2383dup	noncoding	Benign
17	3690982	TG	T	G3690987T	P2RX5	NM_002561.4(P2RX5):c.333del:p.Asn112fs	coding	Benign
17	3761183	A	AATT	A3761185T	ITGAE	NM_002208.5(ITGAE):c.434-7_434-6insTAA	noncoding	Benign
17	4544928	G	GACAGAGGC	C4544937A	MYBBP1A	NM_014520.4(MYBBP1A):c.2311-15_2311-8dup	noncoding	Benign
17	4744208	AAAAC	A	A4744214G	ZMYND15	NM_001136046.3(ZMYND15):c.1516_1519AACA[1]:p.Lys507fs	coding	Pathogenic
17	4898846	AG	A	G4898847A	CHRNE	NM_000080.4(CHRNE):c.1371del:p.Cys458fs	coding	Pathogenic
17	4898848	ATGT	A	T4898852C	CHRNE	NM_000080.4(CHRNE):c.1364ACA[1]:p.Asn456del	coding	Pathogenic
17	4898864	T	TC	A4898869C	CHRNE	NM_000080.4(CHRNE):c.1353dup:p.Asn452fs	coding	Pathogenic
17	4898890	TC	T	C4898892T	CHRNE	NM_000080.4(CHRNE):c.1327delG	coding	Pathogenic
17	4898960	GGCCTCTGCCTCGCTCCACCC	G	C4898968G	CHRNE	NM_000080.4(CHRNE):c.1326+21_1326+40del	noncoding	Benign
17	4899003	C	CG	C4899005G	CHRNE	NM_000080.4(CHRNE):c.1323dup:p.Glu442fs	coding	Pathogenic
17	4899019	ATC	A	T4899024G	CHRNE	NM_000080.4(CHRNE):c.1306_1307del:p.Asp436fs	coding	Pathogenic
17	4899058	A	ACAGCAGCGGACCTCGGGGG	G4899079A	CHRNE	NM_000080.4(CHRNE):c.1250_1268dup:p.Val424fs	coding	Pathogenic
17	4899072	C	CG	C4899078G	CHRNE	NM_000080.4(CHRNE):c.1254dup:p.Glu419fs	coding	Pathogenic
17	4899175	CGGGCCA	C	G4899182C	CHRNE	NM_000080.4(CHRNE):c.1219+17_1219+22del	noncoding	Benign
17	4899213	GC	G	C4899215G	CHRNE	NM_000080.4(CHRNE):c.1203del:p.Gln402fs	coding	Pathogenic
17	4899229	C	CTCAAACA	C4899237T	CHRNE	NM_000080.4(CHRNE):c.1181_1187dup:p.Glu396delinsAspValTer	coding	Pathogenic
17	4899255	T	TA	T4899256A	CHRNE	NM_000080.4(CHRNE):c.1161_1162insT:p.Lys388Ter	coding	Pathogenic
17	4899308	CT	C	T4899310G	CHRNE	NM_000080.4(CHRNE):c.1108del:p.Arg370fs	coding	Pathogenic
17	4899311	G	GGGGGCGAGGC	C4899324G	CHRNE	NM_000080.4(CHRNE):c.1096_1105dup:p.Pro369fs	coding	Pathogenic
17	4899317	GAGGCGGCCCGGGGGGCCTC	G	A4899318G	CHRNE	NM_000080.4(CHRNE):c.1081_1099del:p.Glu361fs	coding	Pathogenic
17	4899318	A	AGGCGGCCCGGGGGGCCTCGGGC	G4899347C	CHRNE	NM_000080.4(CHRNE):c.1077_1098dup:p.Ser367fs	coding	Pathogenic
17	4899323	GC	G	C4899326G	CHRNE	NM_000080.4(CHRNE):c.1093del:p.Ala365fs	coding	Pathogenic
17	4899325	CCGGGGGGCCTCGGGCGGCGG	C	G4899331A	CHRNE	NM_000080.4(CHRNE):c.1072_1091del:p.Pro358fs	coding	Pathogenic
17	4899326	C	CG	C4899333G	CHRNE	NM_000080.4(CHRNE):c.1090dup:p.Arg364fs	coding	Pathogenic
17	4899469	TG	T	G4899471C	CHRNE	NM_000080.4(CHRNE):c.1030del:p.His344fs	coding	Pathogenic
17	4899528	GA	G	A4899529T	CHRNE	NM_000080.4(CHRNE):c.971del:p.Ile324fs	coding	Pathogenic
17	4899563	CCAT	C	C4899564G	CHRNE	NM_001145536.2(C17orf107):c.-199_-197del	coding	Pathogenic
17	4900815	GAGA	G	A4900818T	CHRNE	NM_000080.4(CHRNE):c.892_894del:p.Ser298del	coding	Pathogenic
17	4900857	C	CGGTCT	G4900865T	CHRNE	NM_000080.4(CHRNE):c.848_852dup:p.Val285fs	coding	Pathogenic
17	4900997	CG	C	G4900999C	CHRNE	NM_000080.4(CHRNE):c.794del:p.Pro265fs	coding	Pathogenic
17	4901104	CGTCA	C	A4901108T	CHRNE	NM_000080.4(CHRNE):c.684_687del:p.Asp229fs	coding	Pathogenic/Likely_pathogenic
17	4901156	CCCCGGGCAGAAGTCGATGG	C	G4901160A	CHRNE	NM_000080.4(CHRNE):c.617_635del:p.Ala206fs	coding	Pathogenic
17	4901171	GATGGCCC	G	T4901173C	CHRNE	NM_000080.4(CHRNE):c.614_620del:p.Trp205fs	coding	Pathogenic
17	4901172	ATGGCCCACTCGCCG	A	G4901174T	CHRNE	NM_000080.4(CHRNE):c.606_619del:p.Gly203fs	coding	Pathogenic
17	4901972	AGGTGACCTCCACT	A	G4901974C	CHRNE	NM_000080.4(CHRNE):c.447_459del:p.Val150fs	coding	Pathogenic
17	4901974	GTGACCTCCACTGC	T	G4901974T	CHRNE	NM_000080.4(CHRNE):c.445_458delinsA:p.Ala149fs	coding	Pathogenic
17	4902310	CG	C	G4902312T	CHRNE	NM_000080.4(CHRNE):c.250del:p.Arg84fs	coding	Pathogenic
17	4902622	A	AGTGAG	A4902628G	CHRNE	NM_000080.4(CHRNE):c.183_187dup:p.Leu63fs	coding	Pathogenic/Likely_pathogenic
17	4902679	T	TC	G4902683C	CHRNE	NM_000080.4(CHRNE):c.130dup:p.Glu44fs	coding	Pathogenic
17	4902680	CCCGCACTGGCCGGCTTCCTGGGTCATAGTTGTTGAAGAGATGGTGATAAAGACGCAGTTCCTCGTTCTTCCCCACACCCCTGCCTGCGATGGGGTCAAGAAGGAAGGGTCATTGGCAATGAAGAGGCTGGAGCACCTCTCTCCCCTCTGCCTCCCCTGGGTCCTCACAGGCCTCTGAGGCTGTGTACTATCAGTATCTGTCTCCTAAACCAATTATGCTGTGCCTGGGAACGAAATACTGTGTCTAAGTCTCCATCTTGGTCTCTGTCTTTGTCTTCCCAGTCCCTTCATGTCAGTATCTGTGTGTGTCCAATTGCCCCTCTAGCCCCTGTCCGTACCGAGAAGCCCCAAGAGGAGCAGGACCCCAAGCGGAGCCCTTGCCATCCTGCTGCGTGGTTCTCAGGGTTATTCTGAGCTCTGGCAGGCTTGGAGGGGGCATGCCAGGGTGCCTGTGTGAGGGGGAGGAGGGTGTTAGTTCCGGGCTGTTAGGGGACTGTCACCTAATCCTCTGCTCACCCCTGCTGCAGCTGGGGACATTTTGGCTGCTTCCAGAGGCAGCTGCCCCATCCTGTGTTTCCTGCCCCTGCCCCGCCCCAGCCCAGCGTCCTTTGCCTGGTATTTGGCCAACTCCCCAGCCACAGATGTGGGCGTCTCCTGAGAGGCACCTGCAACCACAATTCTAGTAGCAGGGGGTGGGAGACACTGCTTTCAGCAGGCACTGTTGTCCTTTGAGTAAGCTGCCCTGTGTAGGTGACCCTGACTGATGAACACATCTGGGGATGTGACACACCCCTTGCCTCCCATTCTCACCCATGTGGAACACACACTATCACCACCCAAGCTCACAATGCCTTTCTTGCCGACAGAGTGGCAAAAAACAGTCTCCATAAAGACCTGATAAAGAGACAGGTGGTCACAGGGGATTAGCCCTGCGGTACAGAGATTCCATCTAGCAAAGGAGATCATGTAAAGGACCCACCTCCTTCCACAACCTGATCGCCAGGTTTGCCCATGCCCAGCCCCTCTGGGTGGGAGACTTGTTTCTCCTTGTCTATCCCTGCTGCCACCTTGTGGTCACAGATGATAGTACCGTCTTCCCATCCTACTCTCCTAAACACACACGTGCACACATACACACACACCTGATGACACCTTAATAGATCCTTTTGATGTTCCTTTTTAAAAAAAATTTTTTTGAGACCAAGTCTCGCTCTGGCGCCCAGACTGGAGTGCAGTGGCATGATCTCGGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGCGATTCTCCT	TCTGGATGCG	C4902680T	CHRNE	NC_000017.11:g.4902680_4903969del1290insTCTGGATGCG	coding	Pathogenic
17	4902694	C	CT	C4902697T	CHRNE	NM_000080.4(CHRNE):c.115dup:p.Ser39fs	coding	Pathogenic
17	4932706	CA	C	A4932708G	GP1BA	NM_000173.7(GP1BA):c.104del:p.Lys35fs	coding	Pathogenic
17	4932751	AAC	A	A4932752C	GP1BA	NM_000173.7(GP1BA):c.148_149del:p.Thr50fs	coding	Pathogenic
17	4933822	AAGCCCGACCACCCCAGAGCCCACCTCAGAGCCCGCCCCCAGCCCGACCACCCCGGAGCCCACCTCAGAGCCCGCCCCC	A	T4933886C	GP1BA	NM_000173.7(GP1BA):c.1282_1359del:p.415_427SEPAPSPTTPEPT[1]	coding	Benign/Likely_benign
17	4933876	GGAGCCCACCTCAGAGCCCGCCCCCAGCCCGACCACCCCA	G	A4933915G	GP1BA	NM_000173.7(GP1BA):c.1311_1349del:p.415_427SEPAPSPTTPEPT[2]	coding	Benign/Likely_benign
17	4933915	AGAGCCCACCTCAGAGCCCGCCCCCAGCCCGACCACCCCG	A	T4933925C	GP1BA	NM_000173.7(GP1BA):c.1321_1359del:p.415_427SEPAPSPTTPEPT[2]	coding	Benign/Likely_benign
17	4934203	CTA	C	A4934205G	GP1BA	NM_000173.7(GP1BA):c.1601_1602del:p.Tyr534fs	coding	Pathogenic
17	4939199	CTG	C	G4939201A	SLC25A11	NM_003562.5(SLC25A11):c.107_108del:p.Thr36fs	coding	Pathogenic
17	4944792	C	CG	T4944797G	RNF167	NM_015528.3(RNF167):c.833dup:p.Pro279fs	coding	Benign
17	4955525	G	GTCA	G4955528A	ENO3	NM_053013.4(ENO3):c.788_789insATC:p.Ser263dup	coding	Benign/Likely_benign
17	4955528	G	ATCC	G4955528A	ENO3	NM_053013.4(ENO3):c.789delinsATCC:p.Ser263dup	coding	Benign
17	4956111	C	CCAGAT	G4956118A	ENO3	NM_053013.4(ENO3):c.1037_1041dup:p.Gly348fs	coding	Pathogenic
17	5002851	GCC	G	C5002861A	KIF1C	NM_006612.6(KIF1C):c.720+19_720+20del	noncoding	Benign
17	5002851	G	GC	A5002863C	KIF1C	NM_006612.6(KIF1C):c.720+20dup	noncoding	Benign
17	5004882	CTGCAA	C	A5004886C	KIF1C	NM_006612.6(KIF1C):c.1051_1055del:p.Asn351fs	coding	Pathogenic
17	5022558	GA	G	A5022559G	KIF1C	NM_006612.6(KIF1C):c.2478del:p.Ala828fs	coding	Pathogenic
17	5033459	GCCTGGGGACC	G	C5033461T	SLC52A1	NM_017986.4(SLC52A1):c.1010+10_1010+19del	noncoding	Benign
17	5387400	CTCT	C	C5387402G	NUP88	NM_002532.6(NUP88):c.1899_1901del:p.Glu634del	coding	Pathogenic
17	5433680	GATA	G	A5433683G	C1QBP	NM_001212.4(C1QBP):c.562_564del:p.Tyr188del	coding	Pathogenic
17	6425828	TGCCTGTGGGGAG	T	G6425829C	AIPL1	NM_014336.5(AIPL1):c.785-10_786del	coding	Pathogenic
17	6426925	T	TG	A6426928G	AIPL1	NM_014336.5(AIPL1):c.597dup:p.Lys200fs	coding	Pathogenic
17	6434089	G	GAAGATCAC	A6434092G	AIPL1	NM_014336.5(AIPL1):c.105_106insGTGATCTT:p.His36fs	coding	Pathogenic
17	6434090	A	AAAGATCAC	C6434099A	AIPL1	NM_014336.5(AIPL1):c.97_104dup:p.Phe35delinsLeuTer	coding	Pathogenic
17	6434090	A	AC	A6434091C	AIPL1	NM_014336.5(AIPL1):c.104_105insG:p.Phe35fs	coding	Pathogenic
17	6434095	TC	T	C6434096A	AIPL1	NM_014336.5(AIPL1):c.99del:p.Ile34fs	coding	Pathogenic
17	6435070	A	AC	T6435075C	AIPL1	NM_014336.5(AIPL1):c.34dup:p.Val12fs	coding	Pathogenic
17	6451782	GT	G	T6451785C	PITPNM3	NM_031220.4(PITPNM3):c.*3555del	noncoding	Benign
17	6454755	A	AC	G6454761C	PITPNM3	NM_031220.4(PITPNM3):c.*582dup	noncoding	Benign
17	6470372	T	TAGTC	G6470377A	PITPNM3	NM_031220.4(PITPNM3):c.1657_1660dup:p.Tyr554Ter	coding	Pathogenic
17	6610133	GTC	G	C6610135A	KIAA0753	NM_014804.3(KIAA0753):c.1571_1572del:p.Arg524fs	coding	Pathogenic
17	6620831	TG	T	G6620834A	KIAA0753	NM_014804.3(KIAA0753):c.1271del:p.Pro424fs	coding	Pathogenic
17	6693091	T	TG	C6693093G	SLC13A5	NM_177550.4(SLC13A5):c.1227dup:p.Ile410fs	coding	Pathogenic
17	6693101	C	CACTTTCTCCTG	G6693113A	SLC13A5	NM_177550.4(SLC13A5):c.1207_1217dup:p.Pro407fs	coding	Pathogenic
17	6695850	GC	G	C6695854A	SLC13A5	NM_177550.5(SLC13A5):c.930del:p.Leu312fs	coding	Pathogenic
17	6703712	C	CT	C6703714T	SLC13A5	NM_177550.4(SLC13A5):c.547+165dup	noncoding	Benign
17	6703913	TC	T	C6703915A	SLC13A5	NM_177550.4(SLC13A5):c.511del:p.Glu171fs	coding	Pathogenic
17	7196228	GA	G	A7196231C	DLG4	NM_001321075.3(DLG4):c.1292del:p.Phe431fs	coding	Pathogenic
17	7196504	CG	C	G7196505T	DLG4	NM_001365.4(DLG4):c.1283del:p.Thr428fs	coding	Pathogenic
17	7203309	C	CT	G7203311T	DLG4	NM_001321075.3(DLG4):c.525dup:p.Gly176fs	coding	Pathogenic
17	7203700	GC	G	C7203702A	DLG4	NM_001321075.3(DLG4):c.326del:p.Gly109fs	coding	Pathogenic
17	7219921	T	TGGGCGTGCAGGACGC	C7219937G	ACADVL	NM_001365.4(DLG4):c.-1087_-1073dup	coding	Benign
17	7220135	GCGCTCCTGGGGCAGCCCCGGCC	G	C7220138G	ACADVL	NM_000018.4(ACADVL):c.79_100del:p.Leu27fs	coding	Pathogenic
17	7220154	GGCCCGGCCCT	G	C7220162G	ACADVL	NM_000018.4(ACADVL):c.103_112del:p.Pro35fs	coding	Pathogenic
17	7220160	GC	G	C7220163T	ACADVL	NM_000018.4(ACADVL):c.104del:p.Pro35fs	coding	Pathogenic
17	7220182	CG	C	G7220187T	ACADVL	NM_000018.4(ACADVL):c.128del:p.Gly43fs	coding	Pathogenic
17	7220511	GA	G	A7220517C	ACADVL	NM_000018.4(ACADVL):c.192del:p.Lys64fs	coding	Pathogenic/Likely_pathogenic
17	7220511	G	GA	C7220518A	ACADVL	NM_000018.4(ACADVL):c.192dup:p.Pro65fs	coding	Pathogenic
17	7220608	C	CT	A7220610T	ACADVL	NM_000018.4(ACADVL):c.210dup:p.Lys71Ter	coding	Pathogenic
17	7220651	A	AG	A7220653G	ACADVL	NM_000018.4(ACADVL):c.253dup:p.Asp85fs	coding	Pathogenic
17	7220662	TC	T	C7220665A	ACADVL	NM_000018.4(ACADVL):c.266del:p.Pro89fs	coding	Pathogenic/Likely_pathogenic
17	7220782	GAC	G	C7220786G	ACADVL	NM_000018.4(ACADVL):c.296_297CA[1]:p.Gln100fs	coding	Pathogenic/Likely_pathogenic
17	7220794	TAA	T	A7220796G	ACADVL	NM_000018.4(ACADVL):c.308_309del:p.Lys103fs	coding	Pathogenic/Likely_pathogenic
17	7220794	T	TAAAGAGCTGGTGGAGCC	T7220812A	ACADVL	NM_000018.4(ACADVL):c.307_323dup:p.Val109fs	coding	Pathogenic
17	7220800	GCTGGTGGAGC	G	G7220804T	ACADVL	NM_000018.4(ACADVL):c.316_325del:p.Val106fs	coding	Pathogenic
17	7220922	AG	A	G7220924A	ACADVL	NM_000018.2(ACADVL):c.343delG:p.Glu115Lysfs	noncoding	Pathogenic
17	7220964	TGGA	T	G7220969A	ACADVL	NM_000018.4(ACADVL):c.385_387GAG[1]:p.Glu130del	coding	Pathogenic/Likely_pathogenic
17	7220997	T	TG	C7221003G	ACADVL	NM_000018.4(ACADVL):c.421dup:p.Ala141fs	coding	Pathogenic
17	7220999	GGGGCCTTTGGTCTGCAAGTGCCCAGTGAGCTGGGTGGTGT	G	G7221009C	ACADVL	NM_000018.4(ACADVL):c.428_467del:p.Gly143fs	coding	Pathogenic
17	7221431	GT	G	T7221432C	ACADVL	NM_000018.4(ACADVL):c.478-106del	noncoding	Benign
17	7221515	CCA	C	C7221516G	ACADVL	NM_000018.4(ACADVL):c.478-22_478-21del	noncoding	Benign/Likely_benign
17	7221598	G	GC	A7221602C	ACADVL	NM_000018.4(ACADVL):c.541dup:p.His181fs	coding	Pathogenic
17	7221611	TC	T	C7221612G	ACADVL	NM_000018.4(ACADVL):c.552del:p.Ile184fs	coding	Pathogenic
17	7221617	TCAAAGGCATCCTGCTCTTTGGCA	T	A7221625C	ACADVL	NM_000018.4(ACADVL):c.565_587del:p.Ile189fs	coding	Pathogenic
17	7221950	AG	A	G7221954A	ACADVL	NC_000017.11:g.7221954del	noncoding	Pathogenic
17	7221958	CTG	C	T7221961G	ACADVL	NM_000018.4(ACADVL):c.632_633del:p.Val211fs	coding	Pathogenic
17	7221969	TTCTG	T	G7221973A	ACADVL	NM_000018.4(ACADVL):c.644_647del:p.Phe214_Cys215insTer	coding	Pathogenic/Likely_pathogenic
17	7221980	C	CGAGCCCTCAAGCGGGTCAGATGCAGCCTCCA	T7222012G	ACADVL	NM_000018.4(ACADVL):c.652_682dup:p.Ile228fs	coding	Pathogenic
17	7222015	G	GA	C7222018A	ACADVL	NM_000018.4(ACADVL):c.688dup:p.Thr230fs	coding	Pathogenic
17	7222037	CTG	C	T7222040G	ACADVL	NM_000018.4(ACADVL):c.711_712del:p.Cys237fs	coding	Pathogenic
17	7222193	GA	G	A7222194C	ACADVL	NM_000018.4(ACADVL):c.770del:p.Asp257fs	coding	Pathogenic
17	7222220	CCA	C	C7222221G	ACADVL	NM_000018.4(ACADVL):c.797_798del:p.Pro266fs	coding	Pathogenic
17	7222221	CAGTT	C	G7222223C	ACADVL	NM_000018.4(ACADVL):c.799_802del:p.Val267fs	coding	Pathogenic/Likely_pathogenic
17	7222231	TC	T	C7222233A	ACADVL	NM_000018.4(ACADVL):c.809del:p.Pro270fs	coding	Pathogenic
17	7222276	GGA	G	A7222280G	ACADVL	NM_000018.4(ACADVL):c.856_857del:p.Arg286fs	coding	Pathogenic
17	7222287	TC	T	C7222288G	ACADVL	NM_000018.4(ACADVL):c.864del:p.Phe288fs	coding	Pathogenic
17	7222288	C	CG	C7222294G	ACADVL	NM_000018.4(ACADVL):c.869dup:p.Ile291fs	coding	Pathogenic
17	7222668	G	GGGCC	C7222673G	ACADVL	NM_000018.4(ACADVL):c.881_884dup:p.Pro296fs	coding	Pathogenic/Likely_pathogenic
17	7222674	CCT	C	C7222675G	ACADVL	NM_000018.4(ACADVL):c.887_888del:p.Pro296fs	coding	Pathogenic/Likely_pathogenic
17	7222711	CAG	C	A7222714G	ACADVL	NM_000018.4(ACADVL):c.926_927del:p.Glu309fs	coding	Pathogenic
17	7222782	G	GT	G7222785T	ACADVL	NM_000018.4(ACADVL):c.996dup:p.Ala333fs	coding	Pathogenic/Likely_pathogenic
17	7222794	ATCCTCAACAATGGAAGGTTT	A	T7222795G	ACADVL	NM_000018.4(ACADVL):c.1007_1026del:p.Ile336fs	coding	Pathogenic
17	7222825	CG	C	G7222827C	ACADVL	NM_000018.4(ACADVL):c.1039del:p.Ala347fs	coding	Pathogenic
17	7222843	TGA	T	A7222847G	ACADVL	NM_000018.4(ACADVL):c.1059_1060del:p.Gly354fs	coding	Pathogenic
17	7222844	GAG	A	G7222844A	ACADVL	NM_000018.4(ACADVL):c.1056_1058delinsA:p.Met352fs	coding	Pathogenic
17	7222865	GG	CAC	G7222865C	ACADVL	NM_000018.4(ACADVL):c.1077_1077+1delinsCAC	coding	Pathogenic/Likely_pathogenic
17	7223156	CCA	C	C7223157G	ACADVL	NM_000018.4(ACADVL):c.1102_1103del:p.Gln368fs	coding	Pathogenic
17	7223198	GA	G	A7223200G	ACADVL	NM_000018.4(ACADVL):c.1145del:p.Lys382fs	coding	Pathogenic
17	7223653	T	TAGC	C7223655G	ACADVL	NM_000018.4(ACADVL):c.1193_1194insGCA:p.Tyr398Ter	coding	Pathogenic
17	7223729	CG	C	G7223731T	ACADVL	NM_000018.4(ACADVL):c.1269+1del	coding	Pathogenic
17	7223853	TG	T	G7223859T	ACADVL	NM_000018.4(ACADVL):c.1316del:p.Gly439fs	coding	Pathogenic
17	7223853	T	TG	T7223860G	ACADVL	NM_000018.4(ACADVL):c.1316dup:p.Met440fs	coding	Pathogenic
17	7223859	G	GT	A7223861T	ACADVL	NM_000018.4(ACADVL):c.1317dup:p.Met440fs	coding	Pathogenic
17	7224002	G	GC	A7224004C	ACADVL	NM_000018.4(ACADVL):c.1368dup:p.Ile457fs	coding	Pathogenic
17	7224008	T	TC	G7224011C	ACADVL	NM_000018.3(ACADVL):c.1375dup	coding	Pathogenic
17	7224020	A	AG	A7224025G	ACADVL	NM_000018.4(ACADVL):c.1389dup:p.Thr464fs	coding	Pathogenic
17	7224043	CT	C	T7224044G	ACADVL	NM_000018.4(ACADVL):c.1409del:p.Leu470fs	coding	Pathogenic
17	7224207	GCCT	G	C7224211G	ACADVL	NM_000018.4(ACADVL):c.1497_1499CCT[1]:p.Leu502del	coding	Pathogenic
17	7224217	AG	A	G7224219A	ACADVL	NM_000018.4(ACADVL):c.1508del:p.Gly503fs	coding	Pathogenic
17	7224320	GGC	G	C7224322G	ACADVL	NM_000018.4(ACADVL):c.1534_1535del:p.Arg512fs	coding	Pathogenic
17	7224379	C	CG	A7224382G	ACADVL	NM_000018.4(ACADVL):c.1593dup:p.Ser532fs	coding	Pathogenic
17	7224479	G	GGCAGTACGGGCTCTGGA	T7224502A	ACADVL	NM_000018.4(ACADVL):c.1611_1627dup:p.Phe543fs	coding	Pathogenic
17	7224503	TGCCACTGTGGTGGAGG	T	G7224504C	ACADVL	NM_000018.4(ACADVL):c.1630_1645del:p.Ala544fs	coding	Pathogenic
17	7224645	AAC	A	C7224647G	ACADVL	NM_000018.4(ACADVL):c.1684_1685del:p.Gln562fs	coding	Pathogenic
17	7224684	A	AC	T7224687C	ACADVL	NM_000018.4(ACADVL):c.1723dup:p.Leu575fs	coding	Pathogenic
17	7224690	ATGCCATGGTGG	A	C7224693G	ACADVL	NM_000018.4(ACADVL):c.1730_1740del:p.Ala577fs	coding	Pathogenic
17	7224692	G	GCCAT	G7224697C	ACADVL	NM_000018.4(ACADVL):c.1730_1733dup:p.Met578fs	coding	Pathogenic/Likely_pathogenic
17	7224804	GCCAGGGC	G	C7224806T	ACADVL	NM_000018.4(ACADVL):c.1752-3_1755del	noncoding	Pathogenic
17	7224822	CTGAG	C	T7224827G	ACADVL	NM_000018.4(ACADVL):c.1766_1769TGAG[1]:p.Ser590fs	coding	Pathogenic/Likely_pathogenic
17	7224860	GCT	G	C7224863G	ACADVL	NM_000018.4(ACADVL):c.1804_1805CT[1]:p.Leu602_Cys603insTer	coding	Pathogenic/Likely_pathogenic
17	7224863	C	CT	G7224865T	ACADVL	NM_000018.4(ACADVL):c.1807dup:p.Cys603fs	coding	Pathogenic
17	7225010	GC	G	C7225011A	ACADVL	NM_000018.4(ACADVL):c.1882del:p.Gln628fs	coding	Pathogenic/Likely_pathogenic
17	7225024	G	GC	A7225026C	ACADVL	NM_000018.4(ACADVL):c.1896dup:p.Asn633fs	coding	Pathogenic
17	7446884	GATTC	ACG	G7446884A	CHRNB1	NM_000747.3(CHRNB1):c.295_299delinsACG:p.Asp99fs	coding	Pathogenic
17	7448609	CCT	C	T7448613G	CHRNB1	NM_000747.3(CHRNB1):c.643_644TC[1]:p.Arg216fs	coding	Pathogenic
17	7454394	CA	C	A7454395T	CHRNB1	NM_000747.3(CHRNB1):c.919del:p.Ile307fs	coding	Pathogenic
17	7668202	T	TC	T7668205C	TP53	NM_000546.5(TP53):c.2588dup	noncoding	Pathogenic
17	7669665	AC	A	C7669666T	TP53	NM_001126113.2(TP53):c.*144del	coding	Pathogenic
17	7670625	TC	T	C7670631T	TP53	NM_001126113.2(TP53):c.*102del	coding	Pathogenic
17	7670631	CT	C	T7670632G	TP53	NM_001126113.2(TP53):c.*96del	coding	Pathogenic
17	7670658	TGAGTTCCA	C	T7670658C	TP53	NM_001126113.2(TP53):c.*62_*70delinsG	coding	Pathogenic
17	7670658	TGA	T	A7670660T	TP53	NM_001126113.2(TP53):c.*68_*69del	coding	Pathogenic
17	7670672	TC	T	C7670673A	TP53	NM_000546.5(TP53):c.1036del:p.Glu346fs	coding	Pathogenic
17	7670674	ATTCAGCTC	A	T7670676C	TP53	NM_000546.5(TP53):c.1027_1034del:p.Arg342_Glu343insTer	coding	Pathogenic
17	7670680	CTCTCGGAACA	C	G7670686A	TP53	NM_000546.6(TP53):c.1019_1028del:p.Met340fs	coding	Pathogenic
17	7670684	CG	C	G7670686A	TP53	NM_000546.5(TP53):c.1024del:p.Arg342fs	coding	Pathogenic
17	7670688	A	TTC	A7670688T	TP53	NM_000546.6(TP53):c.1021delinsGAA:p.Phe341fs	coding	Pathogenic
17	7670690	AT	A	T7670691C	TP53	NM_001126113.2(TP53):c.*37del	coding	Pathogenic
17	7670694	C	CA	G7670695A	TP53	NM_000546.5(TP53):c.1014_1015insT:p.Glu339Ter	coding	Pathogenic
17	7670697	AGC	A	G7670700T	TP53	NM_001126113.2(TP53):c.*27_*28GC[1]	coding	Pathogenic
17	7670711	CGG	C	G7670712A	TP53	NM_000546.5(TP53):c.996_997del:p.Ile332fs	coding	Pathogenic
17	7673193	CATTTTCAACTTACAAT	C	A7673207G	TP53	NM_001126112.2(TP53):c.993+326_993+341del	noncoding	Benign/Likely_benign
17	7673533	AC	A	C7673535T	TP53	NM_001126112.2(TP53):c.993+1del	noncoding	Pathogenic
17	7673534	CCTGA	C	C7673535A	TP53	NM_000546.5(TP53):c.990_993del:p.Gln331fs	coding	Pathogenic
17	7673539	AG	A	G7673542T	TP53	NM_000546.6(TP53):c.988del:p.Leu330fs	coding	Pathogenic
17	7673541	GGTGAAATATTCTCCATCCA	G	A7673545G	TP53	NM_001126112.2(TP53):c.968_986del:p.Leu323fs	coding	Pathogenic
17	7673544	G	GA	T7673548A	TP53	NM_000546.5(TP53):c.983dup:p.Thr329fs	coding	Pathogenic
17	7673546	AAT	A	A7673549T	TP53	NM_001126112.2(TP53):c.978_979AT[1]:p.Tyr327fs	coding	Pathogenic
17	7673550	T	TTC	C7673555T	TP53	NM_000546.6(TP53):c.974_975GA[3]:p.Tyr327fs	coding	Pathogenic
17	7673573	TTGGC	T	C7673577G	TP53	NM_000546.6(TP53):c.951_954del:p.Pro318fs	coding	Pathogenic
17	7673577	CT	C	T7673578G	TP53	NM_000546.5(TP53):c.950del:p.Gln317fs	coding	Pathogenic
17	7673578	TG	T	G7673582A	TP53	NM_000546.5(TP53):c.949del:p.Gln317fs	coding	Pathogenic
17	7673581	GGAGAGGAGCT	G	A7673583G	TP53	NM_000546.5(TP53):c.937_946del:p.Ser313fs	coding	Pathogenic
17	7673582	GA	G	A7673583G	TP53	NM_000546.5(TP53):c.945del:p.Gln317fs	coding	Pathogenic
17	7673594	TG	T	G7673595T	TP53	NM_000546.5(TP53):c.933del:p.Asn311fs	coding	Pathogenic
17	7673600	TG	T	G7673603C	TP53	NM_000546.6(TP53):c.927del:p.Asn310fs	coding	Pathogenic
17	7673685	TGTCCTGCTTGCTTACCTC	T	T7673687C	TP53	NM_000546.5(TP53):c.917_919+15del	noncoding	Pathogenic
17	7673690	TGCTTGCTTACCTC	T	G7673695A	TP53	NM_000546.5(TP53):c.917_919+10del	noncoding	Pathogenic
17	7673694	TGCTTACCTC	T	C7673700G	TP53	NM_000546.5(TP53):c.917_919+6del	noncoding	Pathogenic
17	7673703	C	CGCTTAGTG	C7673712G	TP53	NM_000546.6(TP53):c.909_916dup:p.Arg306fs	coding	Pathogenic
17	7673707	T	TA	G7673709A	TP53	NM_000546.5(TP53):c.912dup:p.Lys305Ter	coding	Pathogenic
17	7673709	GT	CCTTGCTTACCTC	G7673709C	TP53	NM_000546.6(TP53):c.910_911delinsGAGGTAAGCAAGG:p.Thr304fs	coding	Pathogenic
17	7673710	TGCTCCCTGGGGGCA	T	C7673715G	TP53	NM_000546.5(TP53):c.896_909del:p.Leu299fs	coding	Pathogenic
17	7673711	G	GCCCC	T7673713C	TP53	NM_001126112.2(TP53):c.908_909insGGGG:p.Ser303fs	coding	Pathogenic
17	7673713	TC	T	C7673716T	TP53	NM_000546.5(TP53):c.906del:p.Ser303fs	coding	Pathogenic
17	7673717	TG	T	G7673722C	TP53	NM_000546.6(TP53):c.902delC	coding	Pathogenic
17	7673717	T	TGG	C7673723G	TP53	NM_000546.5(TP53):c.901_902dup:p.Gly302fs	coding	Pathogenic
17	7673727	TCGTGG	T	C7673728T	TP53	NM_000546.5(TP53):c.888_892del:p.His296fs	coding	Pathogenic
17	7673746	TCTTG	T	T7673748G	TP53	NM_000546.6(TP53):c.870_873del:p.Lys292fs	coding	Pathogenic
17	7673749	T	TG	C7673751G	TP53	NM_000546.5(TP53):c.870dup:p.Lys291fs	coding	Pathogenic
17	7673752	G	GGAGATTCTCTTCCTCTGTGC	C7673774A	TP53	NM_000546.5(TP53):c.848_867dup:p.Arg290fs	coding	Pathogenic
17	7673756	A	ATTCTCTTCCTCTGTGCC	G7673773C	TP53	NM_000546.5(TP53):c.863_864insGGCACAGAGGAAGAGAA:p.Asn288fs	coding	Pathogenic
17	7673757	T	TTC	T7673763C	TP53	NM_000546.5(TP53):c.859_860GA[3]:p.Asn288fs	coding	Pathogenic
17	7673762	TTCCTCTGTGC	T	T7673763G	TP53	NM_000546.5(TP53):c.848_857del:p.Arg283fs	coding	Pathogenic
17	7673763	TCCTC	T	C7673764T	TP53	NM_000546.6(TP53):c.853_856del:p.Glu285fs	coding	Pathogenic
17	7673764	CCTCTG	C	C7673765T	TP53	NM_000546.6(TP53):c.851_855del:p.Thr284fs	coding	Pathogenic
17	7673770	TGC	T	G7673773C	TP53	NM_000546.6(TP53):c.848_849del:p.Arg283fs	coding	Pathogenic
17	7673773	GCCG	CT	G7673773C	TP53	NM_001126112.2(TP53):c.844_847delinsAG:p.Arg283fs	coding	Pathogenic
17	7673775	CG	C	G7673777T	TP53	NM_000546.5(TP53):c.844del:p.Arg282fs	coding	Pathogenic
17	7673777	G	GC	T7673778C	TP53	NM_000546.5(TP53):c.842_843insG:p.Asp281fs	coding	Pathogenic
17	7673777	GTC	G	T7673782C	TP53	NM_001126112.2(TP53):c.837_838GA[2]:p.Asp281fs	coding	Pathogenic
17	7673780	TC	T	C7673781T	TP53	NM_000546.5(TP53):c.839del:p.Arg280fs	coding	Pathogenic
17	7673798	AAC	A	A7673801G	TP53	NM_000546.6(TP53):c.820_821del:p.Val274fs	coding	Pathogenic
17	7673802	CGCACCTCAAA	C	A7673805T	TP53	NM_000546.5(TP53):c.808_817del:p.Phe270fs	coding	Pathogenic
17	7673804	C	CACCT	C7673809A	TP53	NM_000546.5(TP53):c.812_815dup:p.Arg273fs	coding	Pathogenic
17	7673809	CA	C	A7673812G	TP53	NM_000546.5(TP53):c.810del:p.Phe270fs	coding	Pathogenic
17	7673809	C	CA	G7673813A	TP53	NM_000546.6(TP53):c.810dup:p.Glu271Ter	coding	Pathogenic
17	7673811	AAGCTGTTCCGTCC	A	A7673812C	TP53	NM_000546.5(TP53):c.796_808del:p.Gly266fs	coding	Pathogenic
17	7673812	AG	A	G7673813C	TP53	NM_000546.6(TP53):c.807del:p.Phe270fs	coding	Pathogenic
17	7673818	T	TC	G7673821C	TP53	NM_001126112.2(TP53):c.801dup:p.Asn268fs	coding	Pathogenic
17	7673822	TC	T	C7673825A	TP53	NM_000546.5(TP53):c.797del:p.Gly266fs	coding	Pathogenic
17	7673824	CC	AG	C7673824A	TP53	NM_000546.5(TP53):c.795_796delinsCT:p.Gly266Ter	coding	Pathogenic
17	7673829	AG	A	G7673830A	TP53	NM_000546.5(TP53):c.790del:p.Leu264fs	coding	Pathogenic
17	7673831	AT	A	T7673833A	TP53	NM_001126112.2(TP53):c.788del:p.Asn263fs	coding	Pathogenic
17	7673834	AC	A	C7673836A	TP53	NM_000546.5(TP53):c.785del:p.Gly262fs	coding	Pathogenic
17	7674193	AGTGT	TGGATGTCCTGACCTG	A7674193T	TP53	NM_000546.5(TP53):c.766_770delinsCAGGTCAGGACATCCA:p.Thr256fs	coding	Pathogenic
17	7674196	G	GT	G7674198T	TP53	NM_000546.5(TP53):c.766dup:p.Thr256fs	coding	Pathogenic
17	7674203	TG	T	G7674205T	TP53	NM_000546.5(TP53):c.759del:p.Ile254fs	coding	Pathogenic
17	7674208	AG	A	G7674210A	TP53	NM_000546.5(TP53):c.754del:p.Leu252fs	coding	Pathogenic
17	7674212	TG	T	G7674215C	TP53	NM_000546.5(TP53):c.750del:p.Ile251fs	coding	Pathogenic
17	7674218	TCCGGTTCATGCCGCC	T	C7674220A	TP53	NM_000546.5(TP53):c.730_744del:p.Gly244_Arg248del	coding	Pathogenic
17	7674228	GC	AT	G7674228A	TP53	NM_000546.6(TP53):c.734_735delinsAT:p.Gly245Asp	coding	Pathogenic
17	7674238	CAGGAACTGTT	C	G7674240C	TP53	NM_000546.5(TP53):c.715_724del:p.Asn239fs	coding	Pathogenic
17	7674241	GA	G	A7674243C	TP53	NM_000546.6(TP53):c.721del:p.Ser241fs	coding	Pathogenic
17	7674246	G	GA	T7674247A	TP53	NM_000546.5(TP53):c.716_717insT:p.Ser240fs	coding	Pathogenic
17	7674246	GT	G	T7674248A	TP53	NM_000546.5(TP53):c.716del:p.Asn239fs	coding	Pathogenic
17	7674248	TACACATGTAGTTG	T	A7674249T	TP53	NM_000546.5(TP53):c.702_714del:p.His233_Tyr234insTer	coding	Pathogenic
17	7674248	TAC	T	C7674252T	TP53	NM_000546.5(TP53):c.711_712GT[1]:p.Met237_Cys238insTer	coding	Pathogenic
17	7674248	TA	T	A7674249C	TP53	NM_000546.5(TP53):c.714del:p.Met237_Cys238insTer	coding	Pathogenic
17	7674248	T	TA	C7674250A	TP53	NM_000546.5(TP53):c.714dup:p.Asn239Ter	coding	Pathogenic
17	7674249	A	AC	A7674251C	TP53	NM_000546.5(TP53):c.713dup:p.Cys238fs	coding	Pathogenic
17	7674251	AC	A	C7674252A	TP53	NM_000546.5(TP53):c.711del:p.Met237fs	coding	Pathogenic
17	7674270	GGTGGTACA	G	G7674273C	TP53	NM_000546.5(TP53):c.685_692del:p.Cys229fs	coding	Pathogenic
17	7674275	TAC	T	C7674277G	TP53	NM_000546.6(TP53):c.686_687del:p.Cys229fs	coding	Pathogenic
17	7674281	C	CA	G7674283A	TP53	NM_000546.5(TP53):c.681dup:p.Asp228Ter	coding	Pathogenic
17	7674282	AG	A	G7674283A	TP53	NM_000546.5(TP53):c.680del:p.Ser227fs	coding	Pathogenic
17	7674287	CA	C	A7674289C	TP53	NM_000546.5(TP53):c.675del:p.Gly226fs	coding	Pathogenic
17	7674860	TCAGGCGGCTCATAGGG	T	G7674863C	TP53	NM_000546.5(TP53):c.655_670del:p.Pro219fs	coding	Pathogenic
17	7674864	GCGGCTCATAGGGCACC	G	C7674865A	TP53	NM_000546.5(TP53):c.651_666del:p.Val218fs	coding	Pathogenic
17	7674865	CG	C	G7674867C	TP53	NM_000546.5(TP53):c.665del:p.Pro222fs	coding	Pathogenic
17	7674868	CT	C	T7674869C	TP53	NM_001126112.2(TP53):c.662del:p.Glu221fs	coding	Pathogenic
17	7674876	GCAC	G	C7674883A	TP53	NM_001126112.2(TP53):c.646_648GTG[2]:p.Val218del	coding	Pathogenic
17	7674879	C	CCACCA	T7674888C	TP53	NM_001126112.2(TP53):c.647_651dup:p.Val218fs	coding	Pathogenic
17	7674886	A	ACT	A7674889C	TP53	NM_000546.5(TP53):c.643_644dup:p.Ser215fs	coding	Pathogenic
17	7674886	AC	A	C7674887T	TP53	NM_000546.6(TP53):c.644del:p.Ser215fs	coding	Pathogenic
17	7674887	C	CT	A7674889T	TP53	NM_000546.5(TP53):c.643dup:p.Ser215fs	coding	Pathogenic
17	7674887	CTA	C	A7674889G	TP53	NM_000546.6(TP53):c.642_643del:p.His214fs	coding	Pathogenic
17	7674891	GTCGAAAAGTGTT	G	G7674894T	TP53	NM_000546.6(TP53):c.628_639del:p.Asn210_Arg213del	coding	Pathogenic
17	7674894	GAA	G	A7674897G	TP53	NM_000546.5(TP53):c.635_636del:p.Phe212fs	coding	Pathogenic
17	7674894	GA	G	A7674898G	TP53	NM_000546.5(TP53):c.636del:p.Arg213fs	coding	Pathogenic
17	7674901	GTT	G	T7674903C	TP53	NM_000546.5(TP53):c.628_629del:p.Asn210fs	coding	Pathogenic
17	7674903	TTC	T	C7674905G	TP53	NM_001126112.2(TP53):c.626_627del:p.Arg209fs	coding	Pathogenic
17	7674904	T	TC	T7674906C	TP53	NM_000546.6(TP53):c.626dup:p.Asn210fs	coding	Pathogenic
17	7674921	CC	AG	C7674921A	TP53	NM_001126112.2(TP53):c.609_610delinsCT:p.Glu204Ter	coding	Pathogenic
17	7674928	CA	C	A7674931T	TP53	NM_000546.6(TP53):c.602del:p.Leu201fs	coding	Pathogenic
17	7674931	AT	A	T7674934C	TP53	NM_000546.5(TP53):c.599del:p.Asn200fs	coding	Pathogenic
17	7674938	TC	T	C7674940A	TP53	NM_000546.5(TP53):c.592del:p.Glu198fs	coding	Pathogenic
17	7674948	TA	T	A7674950G	TP53	NM_000546.5(TP53):c.582del:p.Ile195fs	coding	Pathogenic
17	7674957	GA	G	A7674958G	TP53	NM_000546.6(TP53):c.573del:p.Gln192fs	coding	Pathogenic
17	7674961	AG	A	G7674965C	TP53	NM_000546.6(TP53):c.569del:p.Pro190fs	coding	Pathogenic
17	7674964	GGCCAGACCTAAGAGCAATCAGTGAGGAATCAGAGGCCTGGGGACCCTGGGCAACCAGCCCTGTCGTCTCTCCAGCCCCAGCTGCTCACCATCGCTATCTGAGCAGCGCTCATGGTGGGGGCAGCGCCTCACAACCTCCGTCATGTGCTGTGACTGCTTGTAGATGGCCATGGCGCGGACGCGGGTGCCGGGCGGGGGTGTGGAATCAACCCACAGCTGCACAGGGCAGGTCTTGGCCAGTTGGCAAAACATCTTGTTGAGGGCAGGGGAGTACTGTAGGAAGAGGAAGGAGACAGAGTTGAAAGTCAGGGCACAAGTGAACAGATAAAGCAACTGGAAGACGGCAGCAAAGAAACAAACATGCGTAAGCACCTCCTGCAACCCACTAGCGAGCTAGAGAGAGTTGGCGTCTACACCTCAGGAGCTTTTCTTTTTTTTTTTTTTTTTTGAGATAGGGTCTTGCTCTGTC	G	G7674965A	TP53	NM_000546.6(TP53):c.376-196_566del	coding	Pathogenic
17	7674964	GGC	G	G7674965C	TP53	NM_000546.6(TP53):c.565_566del:p.Ala189fs	coding	Pathogenic
17	7674966	C	CCAGA	C7674972A	TP53	NM_000546.6(TP53):c.561_564dup:p.Ala189fs	coding	Pathogenic
17	7674967	CA	C	A7674968G	TP53	NM_000546.6(TP53):c.563del:p.Leu188fs	coding	Pathogenic
17	7675047	GCTCACCATCGCTATCTGAGCAGCGCTCATGGTGGGGGCAGCGC	G	C7675053A	TP53	NM_000546.5(TP53):c.522_559+5del	noncoding	Pathogenic
17	7675057	GCTAT	G	A7675060G	TP53	NM_000546.5(TP53):c.551_554del:p.Asp184fs	coding	Pathogenic
17	7675060	AT	A	T7675061C	TP53	NM_000546.5(TP53):c.551del:p.Asp184fs	coding	Pathogenic
17	7675066	GC	G	C7675067A	TP53	NM_000546.5(TP53):c.545del:p.Cys182fs	coding	Pathogenic
17	7675071	GCTCATGGT	G	C7675072G	TP53	NM_000546.5(TP53):c.533_540del:p.His178fs	coding	Pathogenic
17	7675076	T	TGGTGGGGGCAGCGCCTCAC	A7675096G	TP53	NM_000546.5(TP53):c.517_535dup:p.His179fs	coding	Pathogenic
17	7675079	TG	T	G7675084C	TP53	NM_000546.5(TP53):c.532del:p.His178fs	coding	Pathogenic
17	7675096	A	AACCTC	C7675102A	TP53	NM_000546.5(TP53):c.511_515dup:p.Val173fs	coding	Pathogenic
17	7675099	CTCCG	C	C7675102A	TP53	NM_000546.5(TP53):c.509_512del:p.Thr170fs	coding	Pathogenic
17	7675101	C	CCG	T7675104C	TP53	NM_000546.5(TP53):c.509_510dup:p.Glu171fs	coding	Pathogenic
17	7675110	GC	G	C7675111T	TP53	NM_000546.5(TP53):c.501del:p.Gln167fs	coding	Pathogenic
17	7675114	T	TGACTGCTTGTAGATGGC	C7675132G	TP53	NM_000546.6(TP53):c.481_497dup:p.Gln167fs	coding	Pathogenic
17	7675119	GC	AG	G7675119A	TP53	NM_000546.5(TP53):c.492_493delinsCT:p.Lys164_Gln165delinsAsnTer	coding	Pathogenic
17	7675123	GTAG	ACAAGCAGTCTACA	G7675123A	TP53	NM_000546.6(TP53):c.486_489delinsTGTAGACTGCTTGT:p.Tyr163fs	coding	Pathogenic
17	7675130	G	GCCATGGC	G7675138C	TP53	NM_001276697.2(TP53):c.-3_4dup:p.Ala2fs	coding	Pathogenic
17	7675137	CGCGG	C	G7675138A	TP53	NM_000546.5(TP53):c.471_474del:p.Arg158fs	coding	Pathogenic
17	7675138	GC	AA	G7675138A	TP53	NM_001126112.2(TP53):c.473_474delinsTT:p.Arg158Leu	coding	Pathogenic/Likely_pathogenic
17	7675145	CGGGTGCCGGGCGG	C	C7675151T	TP53	NM_000546.5(TP53):c.454_466del:p.Pro152fs	coding	Pathogenic
17	7675148	GTGCC	G	T7675149G	TP53	NM_000546.5(TP53):c.460_463del:p.Gly154fs	coding	Pathogenic
17	7675151	CCGGGCGGGGGTGT	C	C7675152G	TP53	NM_001276697.2(TP53):c.-30_-18del	coding	Pathogenic
17	7675152	CGGGCGGGGGTGTG	C	G7675154A	TP53	NM_000546.5(TP53):c.447_459del:p.Thr150fs	coding	Pathogenic
17	7675156	C	CG	T7675162G	TP53	NM_000546.5(TP53):c.455dup:p.Pro153fs	coding	Pathogenic
17	7675156	CG	C	G7675161T	TP53	NM_000546.5(TP53):c.455del:p.Pro152fs	coding	Pathogenic
17	7675160	GGT	A	G7675160A	TP53	NM_001276697.2(TP53):c.-28_-26delinsT	coding	Pathogenic
17	7675166	GA	G	A7675168T	TP53	NM_000546.5(TP53):c.445del:p.Ser149fs	coding	Pathogenic
17	7675166	G	GA	T7675169A	TP53	NM_001276697.2(TP53):c.-33dup	coding	Pathogenic
17	7675172	AC	A	C7675175A	TP53	NM_000546.5(TP53):c.439del:p.Val147fs	coding	Pathogenic
17	7675178	AGCT	A	T7675181A	TP53	NM_000546.6(TP53):c.431_433del:p.Gln144del	coding	Pathogenic
17	7675185	CAGGGCAGGTCTTGGCCAGTTGGCAAAACATCTTGTTG	C	T7675194G	TP53	NM_000546.6(TP53):c.390_426del:p.Asn131fs	coding	Pathogenic
17	7675189	G	GC	A7675191C	TP53	NM_000546.6(TP53):c.422dup:p.Cys141fs	coding	Pathogenic
17	7675191	A	AGGTCT	T7675197G	TP53	NM_000546.5(TP53):c.416_420dup:p.Cys141fs	coding	Pathogenic
17	7675195	CT	C	T7675197G	TP53	NM_001276697.2(TP53):c.-62del	coding	Pathogenic
17	7675202	AGTTGGCAAAACATCTT	A	G7675207A	TP53	NM_001126115.1(TP53):c.-3_13del:p.Met1fs	coding	Pathogenic
17	7675207	GCA	CC	G7675207C	TP53	NM_001276697.2(TP53):c.-75_-73delinsGG	coding	Pathogenic
17	7675213	C	CA	T7675215A	TP53	NM_000546.6(TP53):c.398dup:p.Met133fs	coding	Pathogenic
17	7675218	TG	T	G7675219T	TP53	NM_000546.5(TP53):c.393del:p.Asn131fs	coding	Pathogenic
17	7675218	TGTTGAGGGCAGGGGAGTACTGTAGGAAGAGGAAGGAGACAGAGTTGAAAGTCAGGGCACAAGTGAACAGATAAAGCAACTGGAAGACG	C	T7675218C	TP53	NM_000546.6(TP53):c.376-70_394delinsG	coding	Pathogenic
17	7675228	AG	A	G7675232A	TP53	NM_001126115.1(TP53):c.-14del	coding	Pathogenic
17	7675235	TA	T	A7675236C	TP53	NM_000546.5(TP53):c.376del:p.Tyr126fs	coding	Pathogenic
17	7675992	A	AC	G7675995C	TP53	NM_000546.5(TP53):c.375+1dupG	noncoding	Pathogenic/Likely_pathogenic
17	7675995	G	GTGCAAGTCACAGT	A7676008T	TP53	NM_000546.6(TP53):c.373_374insACTGTGACTTGCA:p.Thr125fs	coding	Pathogenic
17	7675997	GCAAGTCACAGA	G	A7675999T	TP53	NM_000546.5(TP53):c.361_371del:p.Ser121fs	coding	Pathogenic
17	7675997	G	GC	A7675999C	TP53	NM_000546.5(TP53):c.371dup:p.Cys124fs	coding	Pathogenic
17	7676002	TCA	T	C7676005G	TP53	NM_001126112.2(TP53):c.363_364TG[1]:p.Val122fs	coding	Pathogenic
17	7676003	C	CACAGACTTGGCTGTCCCAGAATGCAAGAAGCCCAG	G7676041A	TP53	NM_000546.6(TP53):c.331_365dup:p.Thr123fs	coding	Pathogenic
17	7676004	A	ACAGACTTGGCTGTCCCAGAATGCAAGAAGCC	G7676041T	TP53	NM_000546.5(TP53):c.334_364dup:p.Val122fs	coding	Pathogenic
17	7676011	TG	T	G7676013C	TP53	NM_000546.6(TP53):c.357del:p.Lys120fs	coding	Pathogenic
17	7676022	G	GAATGCAA	G7676030A	TP53	NM_000546.5(TP53):c.340_346dup:p.Ser116fs	coding	Pathogenic
17	7676025	TG	T	G7676026C	TP53	NM_000546.6(TP53):c.343del:p.His115fs	coding	Pathogenic
17	7676026	G	GC	A7676028C	TP53	NM_000546.5(TP53):c.342dup:p.His115fs	coding	Pathogenic
17	7676039	A	ACGGAAAC	T7676049G	TP53	NM_001126112.2(TP53):c.323_329dup:p.Leu111fs	coding	Pathogenic
17	7676039	AC	GG	A7676039G	TP53	NM_000546.5(TP53):c.329_330delinsCC:p.Arg110Pro	coding	Pathogenic
17	7676039	ACGGAAACCGTAGCTGCCCTG	A	C7676040G	TP53	NM_000546.5(TP53):c.310_329del:p.Gln104fs	coding	Pathogenic
17	7676040	C	CGG	A7676043G	TP53	NM_000546.6(TP53):c.327_328dup:p.Arg110fs	coding	Pathogenic
17	7676040	CG	C	G7676042A	TP53	NM_000546.5(TP53):c.328del:p.Arg110fs	coding	Pathogenic
17	7676040	CGGAA	C	G7676041A	TP53	NM_000546.6(TP53):c.325_328del:p.Phe109fs	coding	Pathogenic
17	7676040	CGG	C	G7676041A	TP53	NM_000546.5(TP53):c.327_328del:p.Phe109fs	coding	Pathogenic/Likely_pathogenic
17	7676041	GGAAACCGT	G	G7676042A	TP53	NM_000546.6(TP53):c.320_327del:p.Tyr107fs	coding	Pathogenic
17	7676041	GGAAA	TTTT	G7676041T	TP53	NM_000546.5(TP53):c.324_328delinsAAAA:p.Phe109fs	coding	Pathogenic
17	7676043	A	TTGGG	A7676043T	TP53	NM_000546.5(TP53):c.326delinsCCCAA:p.Phe109fs	coding	Pathogenic
17	7676044	AACCGTAGCTGC	A	A7676045C	TP53	NM_000546.6(TP53):c.314_324del:p.Gly105fs	coding	Pathogenic
17	7676054	GC	G	C7676057T	TP53	NM_000546.5(TP53):c.314del:p.Gly105fs	coding	Pathogenic
17	7676058	TG	T	G7676060T	TP53	NM_000546.5(TP53):c.310del:p.Gln104fs	coding	Pathogenic
17	7676070	TG	T	G7676073A	TP53	NM_000546.6(TP53):c.298delC	coding	Pathogenic
17	7676071	GGGAA	G	A7676074G	TP53	NM_000546.5(TP53):c.294_297del:p.Ser99fs	coding	Pathogenic
17	7676073	GA	G	A7676075G	TP53	NM_000546.5(TP53):c.295del:p.Ser99fs	coding	Pathogenic
17	7676080	CAGAAG	C	G7676082T	TP53	NM_000546.5(TP53):c.284_288del:p.Ser95fs	coding	Pathogenic
17	7676089	ACAGGGGCCAGGAGGGGGCTGGTG	A	A7676098G	TP53	NM_000546.5(TP53):c.257_279del:p.Ala86fs	coding	Pathogenic
17	7676089	ACAGGGGCCAGGAGGGGGCTGGTGCAGGGGCCGCCGGTGTAGGAGCTGCTGGTG	A	G7676099C	TP53	NM_000546.5(TP53):c.227_279del:p.Ala76fs	coding	Pathogenic
17	7676090	CA	C	A7676091G	TP53	NM_000546.5(TP53):c.278del:p.Leu93fs	coding	Pathogenic
17	7676090	CAG	C	A7676091G	TP53	NM_000546.6(TP53):c.277_278del:p.Leu93fs	coding	Pathogenic
17	7676091	AG	A	G7676095C	TP53	NM_000546.5(TP53):c.277del:p.Leu93fs	coding	Pathogenic
17	7676097	C	CA	G7676099A	TP53	NM_000546.5(TP53):c.271dup:p.Trp91fs	coding	Pathogenic
17	7676098	AGGAGGGGGCTG	A	G7676100T	TP53	NM_000546.5(TP53):c.260_270del:p.Pro87fs	coding	Pathogenic
17	7676101	A	AG	C7676107G	TP53	NM_001126112.2(TP53):c.267dup:p.Ser90fs	coding	Pathogenic
17	7676114	AG	A	G7676118C	TP53	NM_000546.5(TP53):c.254del:p.Pro85fs	coding	Pathogenic
17	7676115	GGGGCCGCC	G	G7676118T	TP53	NM_000546.5(TP53):c.246_253del:p.Ala83fs	coding	Pathogenic
17	7676118	GC	G	C7676120G	TP53	NM_000546.5(TP53):c.250del:p.Ala84fs	coding	Pathogenic
17	7676119	CCG	C	G7676121C	TP53	NM_000546.5(TP53):c.248_249del:p.Ala83fs	coding	Pathogenic
17	7676121	GC	G	C7676123G	TP53	NM_000546.5(TP53):c.247del:p.Ala83fs	coding	Pathogenic
17	7676127	G	GT	A7676129T	TP53	NM_000546.6(TP53):c.241dup:p.Thr81fs	coding	Pathogenic
17	7676144	A	AG	C7676149G	TP53	NM_001126112.2(TP53):c.224dup:p.Ala76fs	coding	Pathogenic
17	7676152	C	CG	A7676159G	TP53	NM_001126112.2(TP53):c.216dup:p.Val73fs	coding	Pathogenic
17	7676152	CG	C	G7676158A	TP53	NM_000546.5(TP53):c.216del:p.Val73fs	coding	Pathogenic
17	7676154	G	GC	G7676155C	TP53	NM_000546.5(TP53):c.214_215insG:p.Pro72fs	coding	Pathogenic
17	7676172	A	AT	C7676175T	TP53	NM_000546.5(TP53):c.196dup:p.Met66fs	coding	Pathogenic
17	7676192	AC	A	C7676194T	TP53	NM_000546.5(TP53):c.176del:p.Gly59fs	coding	Pathogenic
17	7676210	C	CCATT	G7676215C	TP53	NM_000546.5(TP53):c.155_158dup:p.Trp53Ter	coding	Pathogenic
17	7676211	C	CATT	G7676215A	TP53	NM_000546.5(TP53):c.155_157dup:p.Trp53Ter	coding	Pathogenic
17	7676212	A	AT	G7676215T	TP53	NM_000546.5(TP53):c.156dup:p.Trp53fs	coding	Pathogenic
17	7676212	ATT	A	T7676213G	TP53	NM_000546.5(TP53):c.155_156del:p.Gln52fs	coding	Pathogenic
17	7676215	G	GT	C7676218T	TP53	NM_001126112.2(TP53):c.153dup:p.Gln52fs	coding	Pathogenic
17	7676215	G	GTTCAATATCGTCCGGGGACAGCA	C7676240T	TP53	NM_000546.6(TP53):c.131_153dup:p.Gln52fs	coding	Pathogenic
17	7676216	T	TTCAATATCGTC	C7676228T	TP53	NM_000546.6(TP53):c.142_152dup:p.Gln52fs	coding	Pathogenic
17	7676228	CG	C	G7676232A	TP53	NM_000546.5(TP53):c.140del:p.Pro47fs	coding	Pathogenic
17	7676232	G	AC	G7676232A	TP53	NM_000546.5(TP53):c.137delinsGT:p.Ser46fs	coding	Pathogenic
17	7676240	CA	C	A7676243T	TP53	NM_000546.6(TP53):c.128del:p.Asp42_Leu43insTer	coding	Pathogenic
17	7676244	T	TCATC	T7676252C	TP53	NM_000546.5(TP53):c.121_124dup:p.Asp42delinsGlyTer	coding	Pathogenic
17	7676256	TG	T	G7676259A	TP53	NM_001126118.1(TP53):c.-6del	coding	Pathogenic
17	7676266	A	AG	A7676272G	TP53	NM_000546.6(TP53):c.102dup:p.Pro36fs	coding	Pathogenic
17	7676271	G	GA	C7676273A	TP53	NM_001126118.1(TP53):c.-21dup	coding	Pathogenic
17	7676325	CCCCCAGCCCTCCAGGT	C	T7676351A	TP53	NM_000546.6(TP53):c.96+41_97-54del	noncoding	Benign
17	7676350	CTCCAGGTCCCCAGCCCA	C	T7676351A	TP53	NM_000546.5(TP53):c.96+15_96+31del	noncoding	Benign
17	7676351	TCCAGGTCCCCAGCCCA	T	C7676352A	TP53	NM_000546.5(TP53):c.96+15_96+30del	noncoding	Benign
17	7676355	GGTCCCCAGCCCA	G	G7676356A	TP53	NM_000546.5(TP53):c.96+15_96+26del	noncoding	Benign
17	7676363	GC	G	C7676366A	TP53	NM_000546.5(TP53):c.96+18del	noncoding	Benign
17	7676377	CTTACCAGAACGTTGT	C	A7676380T	TP53	NM_000546.5(TP53):c.86_96+4del	noncoding	Pathogenic
17	7676387	C	CT	G7676388T	TP53	NM_000546.5(TP53):c.90_91insA:p.Val31fs	coding	Pathogenic
17	7676391	GT	G	T7676395C	TP53	NM_001126118.1(TP53):c.-32del	coding	Pathogenic
17	7676398	GGAA	ACGTTCTT	G7676398A	TP53	NM_000546.6(TP53):c.77_80delinsAAGAACGT:p.Leu26fs	coding	Pathogenic
17	7676536	GA	G	A7676540T	TP53	NM_001126118.1(TP53):c.-177del	coding	Pathogenic
17	7676542	GT	G	T7676545C	TP53	NM_001126112.2(TP53):c.52del:p.Thr18fs	coding	Pathogenic
17	7676549	GA	G	A7676550C	TP53	NM_001126118.1(TP53):c.-190del	coding	Pathogenic
17	7702505	CT	C	T7702506C	WRAP53	NM_001143992.2(WRAP53):c.1118del:p.Leu373fs	coding	Pathogenic
17	7846859	TACCACC	T	A7846893C	KDM6B	NM_001080424.2(KDM6B):c.753_755ACC[11]:p.Pro263_Pro264del	coding	Benign
17	7847703	CCT	C	C7847704G	KDM6B	NM_001348716.2(KDM6B):c.1416_1417del:p.Cys473fs	coding	Pathogenic
17	7848540	TCACCACCAC	T	C7848565G	KDM6B	NM_001080424.2(KDM6B):c.2253_2255CAC[8]:p.Thr760_Thr762del	coding	Benign
17	7885046	G	GCCA	G7885052A	CHD3	NM_001005271.3(CHD3):c.243_245dup:p.Pro82dup	coding	Benign
17	7885064	G	GCCGCCGCCC	A7885082C	CHD3	NM_001005271.3(CHD3):c.267_275dup:p.Pro90_Pro92dup	coding	Benign
17	8003133	T	TC	G8003139C	GUCY2D	NM_000180.4(GUCY2D):c.91dup:p.Arg31fs	coding	Pathogenic
17	8003222	C	CTCCGGGG	G8003224C	GUCY2D	NM_000180.4(GUCY2D):c.176_177insCCGGGGT:p.Gly60fs	coding	Pathogenic
17	8003272	GGCCGCCCGCCTGGC	G	G8003273C	GUCY2D	NM_000180.4(GUCY2D):c.226_239del:p.Ala76fs	coding	Pathogenic
17	8003433	AC	A	C8003436T	GUCY2D	NM_000180.3(GUCY2D):c.389del:p.Pro130Leufs	coding	Pathogenic
17	8003543	AC	A	C8003548G	GUCY2D	NM_000180.4(GUCY2D):c.501del:p.Ala168fs	coding	Pathogenic
17	8003608	C	CACCG	C8003613A	GUCY2D	NM_000180.4(GUCY2D):c.562_565dup:p.Ala189fs	coding	Pathogenic
17	8003666	GC	G	C8003669G	GUCY2D	NM_000180.4(GUCY2D):c.622del:p.Arg208fs	coding	Pathogenic
17	8004043	CA	C	A8004044C	GUCY2D	NM_000180.4(GUCY2D):c.914del:p.His305fs	coding	Pathogenic
17	8004053	TGCTCACCCTCACGC	T	T8004056C	GUCY2D	NM_000180.4(GUCY2D):c.926_939del:p.Leu309fs	coding	Pathogenic
17	8006576	CT	C	T8006581G	GUCY2D	NM_000180.4(GUCY2D):c.1245del:p.Phe415fs	coding	Pathogenic
17	8007491	TC	T	C8007492A	GUCY2D	NM_000180.4(GUCY2D):c.1530del:p.Thr511fs	coding	Pathogenic
17	8012166	AC	A	C8012167G	GUCY2D	NM_000180.4(GUCY2D):c.1773del:p.Asn591fs	coding	Pathogenic
17	8012199	GGGGAGCAGAAGGCCCTGCGGCCCTC	G	G8012200T	GUCY2D	NM_000180.4(GUCY2D):c.1806_1830del:p.Ala604fs	coding	Pathogenic
17	8013072	AGCGGCGCCTCAGCCCCTTCCCCATCCCCAGACCAGCTGTGGACAGCCCCGGAGCTGCTTAGGGACCCAGCCCTGGAGCGCCGGGGAACGCTGGCCGGCGACGTCTTTAGCTTGGCCATCATCATGCAAGAAGTAGTGTGCCGCAGTGCCCCTTATGCCATGCTGGAGCTCACTCCCGAGGGTAAGGCTGCCCTGT	A	G8013076T	GUCY2D	NM_000180.4(GUCY2D):c.2114-27_2263+18del	noncoding	Pathogenic
17	8013165	GCCGGCGACGTCTTTAGCTTGGCCATCATCA	G	C8013166T	GUCY2D	NM_000180.4(GUCY2D):c.2177_2206del:p.Ala726_Met736delinsVal	coding	Pathogenic
17	8013991	CG	C	G8013993A	GUCY2D	NM_000180.4(GUCY2D):c.2377del:p.Glu793fs	coding	Pathogenic
17	8014010	G	GGACC	A8014015G	GUCY2D	NM_000180.4(GUCY2D):c.2395_2398dup:p.His800fs	coding	Pathogenic
17	8014703	AC	A	C8014704G	GUCY2D	NM_000180.4(GUCY2D):c.2516del:p.Thr839fs	coding	Pathogenic
17	8014876	TG	T	G8014877A	GUCY2D	NM_000180.4(GUCY2D):c.2595del:p.Lys866fs	coding	Pathogenic
17	8014928	CT	C	T8014931A	GUCY2D	NM_000180.4(GUCY2D):c.2649del:p.Phe883fs	coding	Pathogenic
17	8015500	CG	C	G8015503T	GUCY2D	NM_000180.4(GUCY2D):c.2944+1del	coding	Pathogenic
17	8015792	GT	G	T8015795G	GUCY2D	NM_000180.4(GUCY2D):c.2997del:p.Phe999fs	coding	Pathogenic
17	8015960	GGA	G	G8015961T	GUCY2D	NM_000180.4(GUCY2D):c.3078_3079del:p.Ile1027fs	coding	Pathogenic
17	8016276	T	TG	A8016278G	GUCY2D	NM_000180.4(GUCY2D):c.3211dup:p.Asp1071fs	coding	Pathogenic
17	8016283	C	CA	C8016286A	GUCY2D	NM_000180.4(GUCY2D):c.3219dup:p.Pro1074fs	coding	Pathogenic
17	8016448	G	GCAAC	C8016455A	GUCY2D	NM_000180.4(GUCY2D):c.3233_3236dup:p.His1079fs	coding	Pathogenic
17	8076317	CA	C	A8076320G	ALOX12B	NM_001139.3(ALOX12B):c.1389del:p.Phe463fs	coding	Pathogenic
17	8076668	G	GC	T8076676C	ALOX12B	NM_001139.3(ALOX12B):c.1350dup:p.Leu451fs	coding	Pathogenic
17	8076884	C	CCCAGGCTGACTGGAGTCTCTCTGACTGCT	A8076915C	SNORD118	NM_001139.3(ALOX12B):c.1275+77_1275+105dup	noncoding	Pathogenic
17	8076954	GATGCCT	G	A8076955G	SNORD118	NM_001139.3(ALOX12B):c.1275+30_1275+35del	noncoding	Pathogenic
17	8076992	T	TG	T8076994G	ALOX12B	NM_001139.3(ALOX12B):c.1272dup:p.Lys425fs	coding	Pathogenic
17	8077111	AC	A	C8077114A	ALOX12B	NM_001139.3(ALOX12B):c.1153del:p.Val385fs	coding	Pathogenic
17	8086080	G	GAT	C8086084T	ALOX12B	NM_001139.3(ALOX12B):c.286_287dup:p.Tyr97fs	coding	Pathogenic
17	8086125	AG	A	G8086128T	ALOX12B	NM_001139.3(ALOX12B):c.242del:p.Pro81fs	coding	Pathogenic
17	8110076	AC	A	C8110079G	ALOXE3	NM_001165960.1(ALOXE3):c.1701+15del	noncoding	Benign
17	8110389	AT	A	T8110390G	ALOXE3	NM_021628.3(ALOXE3):c.1096del:p.Ile366fs	coding	Pathogenic
17	8121854	C	CGGGGCGGTTT	C8121871G	HES7	NM_001165967.2(HES7):c.400_409dup:p.Arg137fs	coding	Pathogenic
17	8161752	CATG	C	A8161756T	VAMP2	NM_014232.3:c.135_137del	coding	Pathogenic
17	8161759	TCCA	T	A8161765T	VAMP2	NM_014232.3(VAMP2):c.128_130del	coding	Pathogenic
17	8173376	CCCAGTCAGAACTTCATAGCTATGTTTGTGGATATCTGCTAATCAGCATAACACAAATGTAAGTGATCGTCAGAAAGAATCAGACAGGAGCAATCAGGGTGTTGCAAGTCCTGATTACGCAGAGACGTTAATCACGTTTCATGCATCTCCAATCATCATGTTCTAATCTGCCCTCCGGAGGAGGAACAGGTAAGGATTATCCCACCTGACGATACAGACAAACAGCCGACATTCTGCACTCAGTGAAAAAGATTCCGTTACAAGCTAGGGTGAGTTCATAACG	C	C8173378G	SNORD118	NM_183065.4(TMEM107):c.*545_*826del	noncoding	Pathogenic
17	8173528	T	TA	C8173529A	SNORD118	NM_183065.4(TMEM107):c.*674_*675insT	noncoding	Pathogenic
17	8173530	A	AT	C8173532T	SNORD118	NM_183065.4(TMEM107):c.*672dup	noncoding	Pathogenic
17	8173532	C	CA	T8173534A	SNORD118	NM_183065.4(TMEM107):c.*670dup	noncoding	Pathogenic
17	8173566	T	TAAGGATTATCCCACCTGACGATACAGACA	C8173598G	SNORD118	NM_183065.4(TMEM107):c.*608_*636dup	noncoding	Pathogenic
17	8173636	CAAGCTA	C	A8173637G	SNORD118	NM_183065.4(TMEM107):c.*561_*566del	noncoding	Pathogenic
17	8174241	AT	A	T8174242A	TMEM107	NM_183065.4(TMEM107):c.384del:p.Leu128fs	coding	Pathogenic
17	8174572	TGAA	T	A8174577G	TMEM107	NM_183065.4(TMEM107):c.295_297TTC[1]:p.Phe100del	coding	Pathogenic
17	8229358	C	CA	G8229360A	CTC1	NM_025099.6(CTC1):c.3099dup:p.Val1034fs	coding	Pathogenic
17	8229438	AG	A	G8229442A	CTC1	NM_025099.6(CTC1):c.3019del:p.Leu1007fs	coding	Pathogenic
17	8229904	CAG	C	A8229905G	CTC1	NM_025099.6(CTC1):c.2996_2997del:p.Pro999fs	coding	Pathogenic
17	8229945	AAAC	A	C8229951T	CTC1	NM_025099.6(CTC1):c.2951_2953GTT[1]:p.Cys985del	coding	Pathogenic
17	8230338	TG	T	G8230340A	CTC1	NM_025099.6(CTC1):c.2888del:p.Pro963fs	coding	Pathogenic
17	8230395	A	AG	A8230402G	CTC1	NM_025099.6(CTC1):c.2831dup:p.His945fs	coding	Pathogenic
17	8230395	AG	A	G8230401A	CTC1	NM_025099.6(CTC1):c.2831del:p.Pro944fs	coding	Pathogenic
17	8231371	CCAGTTGTCCTGGA	C	T8231376G	CTC1	NM_025099.6(CTC1):c.2561_2573del:p.Val854fs	coding	Pathogenic
17	8235246	TC	T	C8235252T	CTC1	NM_025099.6(CTC1):c.1245del:p.Thr416fs	coding	Pathogenic
17	8235278	TC	T	C8235280T	CTC1	NM_025099.6(CTC1):c.1213del:p.Asp405fs	coding	Pathogenic
17	8236060	AATAGG	A	T8236067G	CTC1	NM_025099.6(CTC1):c.1065_1069CCTAT[1]:p.Ser357fs	coding	Pathogenic
17	8236076	AG	A	G8236077A	CTC1	NM_025099.6(CTC1):c.1058del:p.Ser353fs	coding	Pathogenic
17	8237439	GCTTT	G	T8237442G	CTC1	NM_025099.6(CTC1):c.724_727del:p.Lys242fs	coding	Pathogenic
17	8238237	TA	T	A8238238T	CTC1	NM_025099.6(CTC1):c.440del:p.Ile147fs	coding	Pathogenic
17	8238575	G	GTGGC	C8238582G	CTC1	NM_025099.6(CTC1):c.248_251dup:p.His84fs	coding	Pathogenic
17	8382189	TTC	T	C8382191G	RPL26	NM_000987.5(RPL26):c.120_121del:p.Lys41fs	coding	Pathogenic
17	9239700	ACAT	A	A9239705T	NTN1	NM_004822.3(NTN1):c.1549_1551ATC[1]:p.Ile518del	coding	Pathogenic
17	10406394	G	GT	A10406396T	MYH8	NM_002472.3(MYH8):c.2174dup:p.Tyr725Ter	coding	Benign
17	10523165	ATTCT	A	T10523170A	MYH2	NM_017534.6(MYH2):c.5590_5593AGAA[1]:p.Lys1865fs	coding	Pathogenic
17	10525549	GC	G	C10525551T	MYH2	NM_017534.6(MYH2):c.4438del:p.Ala1480fs	coding	Pathogenic
17	10529666	GA	G	A10529667G	MYH2	NM_017534.6(MYH2):c.3014del:p.Leu1005fs	coding	Pathogenic
17	10531657	A	AT	C10531665T	MYH2	NM_017534.6(MYH2):c.2672dup:p.Asn891fs	coding	Pathogenic
17	10533325	AC	A	C10533328T	MYH2	NM_017534.6(MYH2):c.2400del:p.Phe801fs	coding	Pathogenic
17	10537410	CT	C	T10537413G	MYH2	NM_017534.6(MYH2):c.1719del:p.Gly574fs	coding	Pathogenic
17	10629780	TCAGAACTCACCACGGGAAACAGCACGGTCTGCCTGCCGCAGTCAGCACCTATCTCACTTACAGCCTCCTCCGCCTGCCTCTTGTAGGACTTGACTTTCACTTGCAGTTTATCCAC	T	A10629785T	MYH3	NM_002470.4(MYH3):c.5605_5659-47del	noncoding	Pathogenic
17	10630278	C	CT	G10630280T	MYH3	NM_002470.4(MYH3):c.5457+9dup	noncoding	Benign/Likely_benign
17	10639075	C	CATT	C10639079A	MYH3	NM_002470.4(MYH3):c.3214_3216dup:p.Asn1072dup	coding	Pathogenic
17	10639805	T	TA	G10639816A	MYH3	NM_002470.4(MYH3):c.2683-13dup	noncoding	Benign
17	10640085	CGAG	C	G10640086T	MYH3	NM_002470.4(MYH3):c.2590_2592del:p.Leu864del	coding	Pathogenic
17	10643214	GTCTGGGCATCTCTTGTGTACTTTATTTTGTAGTTACTCTTCAATGTGCCATATAGACTTCTATTTCTTCTCTACTAGACTACAAGCTCATCTGTTTTTTTCACCTGTATGTCTTGTACCTGGGAAACCTAAATATACACTTTGATGAGTGGCTATGCACTTTTTTTTTTCTTT	G	C10643216T	MYH3	NM_002470.4(MYH3):c.1411-391_1411-219del	noncoding	Pathogenic
17	10692774	CA	C	A10692775C	SCO1	NM_004589.4(SCO1):c.551del:p.Val184fs	coding	Pathogenic
17	10695739	ACT	A	C10695744G	SCO1	NM_004589.3(SCO1):c.363_364del:p.Lys122Valfs	noncoding	Pathogenic
17	10697246	AG	A	G10697250C	SCO1	NM_004589.4(SCO1):c.261del:p.Ser88fs	coding	Pathogenic
17	11598539	A	ACGCGGATGGGGAACCCGGCGCCGAC	A11598567C	DNAH9	NM_001372.4(DNAH9):c.44_68dup:p.Arg24fs	coding	Benign
17	11871669	G	GT	A11871672T	DNAH9	NM_001372.4(DNAH9):c.10127dup:p.Leu3376fs	coding	Pathogenic
17	12745998	AAC	A	C12746000G	MYOCD	NM_001146312.2(MYOCD):c.1053_1054del:p.Asn351fs	coding	Pathogenic
17	12994783	GC	G	C12994784A	ELAC2	NM_018127.7(ELAC2):c.2009del:p.Cys670fs	coding	Pathogenic
17	12995819	C	CA	T12995826A	ELAC2	NM_018127.7(ELAC2):c.1699-13dup	noncoding	Benign
17	13000279	A	AG	A13000282G	ELAC2	NM_018127.7(ELAC2):c.1305-7dup	noncoding	Benign
17	13000281	G	GGAGA	A13000282G	ELAC2	NM_018127.7(ELAC2):c.1305-8_1305-7insTCTC	noncoding	Benign
17	13005729	A	AATC	A13005734T	ELAC2	NM_018127.7(ELAC2):c.870+21_870+23dup	noncoding	Benign
17	13013527	TG	T	G13013528A	ELAC2	NM_018127.7(ELAC2):c.491-253del	noncoding	Benign
17	13014471	AT	A	T13014475G	ELAC2	NM_018127.7(ELAC2):c.457del:p.Ile153fs	coding	Pathogenic
17	14076450	A	AT	A14076452T	COX10	NM_001303.4(COX10):c.178-284dup	noncoding	Benign
17	14207351	GTT	G	T14207364A	COX10	NM_001303.4(COX10):c.*151_*152del	noncoding	Benign
17	14208043	CCT	C	C14208046G	COX10	NM_001303.4(COX10):c.*831_*832CT[1]	noncoding	Benign
17	15133095	G	GAACAAAGAAACGGACAAAATGCACAAACAAAGCAATGAAAGATGAAGCAACGAAAGCACAGATTTAATGAAATGAAAGTACACTCCACAGAGTAGGAGCGAGCTTGGGCAAGTGGCTCAAGAGCACTGGTTACAGAATTTTCTGGGGTTTAAATACCCTCTAGAGTTTCCCATTGGTTACTTGGTTACACTATATGTAAATGAAGACCTGAACCAGTCTGATTGGTTGCAGGGAGGGACCAATCAGAGGCCGAAGCGAAGCTACAAAGTTACACCCTATGCAAATGAAGACTGGTTGTGGGAGGGGATCCATCAGAAGTACTTACCATTTTTCATCTGCAATGCAGTAGAAGTCGGGGAGGGCATTGGAAAGGAAGTAGCCTCTGATGCTTTTGTTACTTGGGTGTAAAAAGGTGGGGTTTTCCTTTTGATTCCGTTCTAGGAAGTCACTGCAAATCGAATCGGCCTTAGGTTCCCTGCCTCCAGACCCTATTCTCCCGCCTCACAGTGGATGAGCAATCAGACACTTGCCTGCTTGCAAACAAGCACACCCCGCCCCACCACACCCCCACACCCCTGGCCCCCCACCCCGCTTCCCCTGCTTCCCCGCCCCCCGCCCCGTACCCTTCCAGCAAACTCAAGACCCACAGGGCCAGGCAGCTGGCTGGTGCTGGACAACAGGCCTCAGGAGGCTGCTTAGAAACCTGCCATGCTGAGCACTTGCTTAGTATTAAATTAAACTAAGTTTGACCTCAGGCGGCATCTATACCCATGTTCCTACTTAACGAACTGCAACCTAACTTAGTACTTAAACAAACTGAAAGCATAACTAGGAGTATATTTTTTTGTAACAACCAGCTGAGTCTCAGCCAATCACAGCAGCTGAGCTTCACCAATCACAGGCAGCGCTGATCAAACCCCACCCAAATAAGGCAAATCCAGCTGTAACCAATCCAGCTGTTTATGCATCTCACTTCCTTTTCTGTCCATAAATGCTGCCTGCTGGATGGAGCGATCTGAACCTCTTCTGGTTCTGAGAGCTGCTTAGTTCACAAATTGTTCTTTGCTCAATTAAACTCTGTTAAGTTTAATTTGTCTAAAGTTTTCCTTTGAACATTATCTGCCCTGCCTTTTCAAACACCAGGAGGTATAATAATATGTCCACACAAAACACTTTCATGGCCCGCAATGGAACACCAGTACGTTCTGTCTCTCATAAGGCACTGTGGTTGTTACAGGAGAAAAGGAAGTTGGTTGGTGAGTCTTTGGACAGAATGGGGGATGTGGTGTCCCTCTGCTCTCAGACATTTTTCTCACTGCAAGCATCCCAGAGAACTTCCAGGAAGGCAAGGGAAGAGAGCAGACATGAGACTATAGCATGCAGCAAGCCTGAAGACCCCTAGGTGGAGCCCACTTTTGAGTAAATTGGACCAACCCGACTAGACAGACTTCAATGGAGAGGCAGATGCTTCAGTACTGATAAAAAGTAACAAAAAGGAGCGAAGCTGGGCACTTCTTATCACCTAGATGTCAGAACTGAGGCTCAACCCTGAATTTTCAAAGACTTAAGTGCAAAACTGACACCCAGAAAGTATAAATAGAGCAGGGCTGGGGTGGGGGAGTTAAAGCAAAAGGAAAAAGTGTGGGGGGGAAGTTTTTAAAAATAATAAATAAATAATACATAACTAAATAAATGGCTTTTCAGAAAATGATCAGAATGAAGAAAACACAAGTGCAATGCTAAAGGAACCACAGATGGGGAACTCCCCAAGCCCCTGGGTGCTAGAGGCTCTATATTTAGACCAAATTAAATGCTCTGAGGCCCCACCCTTGTACCATCAGGAATTTCCCTCTCCAAACAGTATAAATGTCCCCTAGGGGTGATGGCATTAAAAATCCCTCTCTCACCCTGCAATTAGGTATTTTGTACATGTTTCCTTGTCTGTTGTCCAAGTTCTCCCATTAGACTGTAAATTCTATGAACGAATGGATCTCTTACGCTTGTCCACAGATTCTGAGCCTATGAAGATGGTACTAGTCCTCGATAAGTATTTGTGAAATGAGTAGCTGAATGAATGAATGAATAAGTAAAAGAATGAATGATTGAATGATCACTTACAAGCTGCTGCCTGAGGCTTCTACCCTTGTAGCCCCTACGTACACCTCAAGCACTGTTGCTGGTTTTGCATCAAATCTTCTTGTAGTGTAGCCAGAAGTGTATCCAGGACTCTGGGATTTTCACTAACCAGCTGAGAACTACATGGTCCCCATGCTGGGGCCAAACCCTGCCCCCAGAAACACGGTCTGTGTTGCTAAGCCTGACGTCCTATCCTATCTCTATGAATTGTTCACTAGGACTGTTGTTCCTGCACACAGTCTGGCCTAGTACAACACCACCCTAGATCAATCTGGTATATTTTTATAACCTAAGTATGGTAGGGATCATAATCCTGGTTTTAGCTCCGTTTATGGGAAGACGTCCTGCTGCCTACACTTAAACTGATGGAGCTAAATAATGAATGGGCAGGGGCTTCCCCAGGTCTCACTGCCATCTAAGGGCTAAAGAAAAATGAAGAAGATGAGGAAGAGGTGAGGGCTGTCTCCACCCACCAACAGCACCTGAGTCCCAGGCCCTGGCTCAACCAAAACGAATGTTTTGTTACAGTGAGGCCAGGATTTCTGGACAGAGCAAACCACAGCAACAGAAAACAGTCATTTGAGAGAAACAGTGGCCACACTGCCACTCCTTCTATGGTGGAACGACAGAAAGTACGTAGACGACACCGATGGCCTTTAGACACCAGCTGCCCTGGCTGAGGGAAAACAAGAAGCATAGTTTCCATTGCTCTGTATTACATCACTTTTTTCCACATTCTTTAATGACCTAATGATTCTTTAATGACCTTTAATGACCTCTTTGCAGTAAAATGTCCCAATGAGAATACACATTTCCATTAATTAAATTCAACGTGCAATCAAAATGGTGTCACTAAAACAGTGGGCTGTCCTAGTCTTGGTGTCCTCTAAATATGGATCCACTTTTCCCAGCTTAGTACTAAACAAGTTGAGTAGAACGAAGAGTAAACACAAGTACCAAAAATATCACAGTTATTATTAATAAATGCCACATTGAAGCACATTTTTTTGGTTGGAGAGCTCAGTGGGCCTGCTAACTAAATCCCAGAATTCAGCAGTCTTACCCACCTAGCAGTGGACCATGCAGACTTCCTTTCACTCTCCTACTTTGCAGGATGGTAAGGACCATGCTGTATGCCTAAGAGAAGTCTTAGGCCTAAAGAACTCTAGCTCTCTGCAGACAGAATGCTCTAATACCGTTTTCAAGACTGCAAGTTATTTAAAGTCACTTCTTGTCTTCAAAGGCAAAGGAACAAAAAGGTCAACAGAATCCACTTGCCCTGTGAAAAATTCCGTTCCCCGCAAGGAAAAGAGGAAGCAATATTTTCCACCAGACTTGCCCTGTCTGATAAGTCTTGGTAAGCCACCTTATTGATTGTCTTCAACTGAGAAGACAATCAATTTTGAGAAAACTGGACCAACCCTACTAGACAGACTTCGGTGGAGAGGCAGATGCCTCAGCACTGGTAAAAATATCAAAAAGGAGTGAAGCTGGGCACTTATTATCTGGAATCCTTCCTCTTTTCTTGTCTTGTGGACTTGGGCAGCTCACGTGACCTCTCTGGGCACTGGTTTCATCACCTGCAGCCACACAATGATGGATTTGGGCTAGATGGCCACCAAGTATTTTTCAGCTCTAACAGTCTGCAAATGACATGAGATTTTCTCACCTTTGAGCCATATAGGAATTCCCTTAGCAGAGAAAGAATAGCCTGTGTGGGAAACTATGAATTTTACCTTATTGCTTTCCCTAAATAATGCCAGGGGTGCCTTAGCCCACCCAGAGCTTTGCTGTAAGTAGGACAATTGCTCAACCCATTCTGCTAACCAAGTTTTCTCATTACCCTTTTCCTCTGGAAGTTTTGAGCCCATCCTGCTACATCTGCAAGATATGAGACAATGAGAGGTTATGGGATGACACGCTTGTTTCTTCTGGCTTCCTGGCATTGCCTCTTCTGACAATGTGAGTCTATGGTACCCACTGTAGGTCAGGGTATTTTCAGGAGTATATTTTCAGGAGTATTCATCATATGGACTTTCCTTTTGCACTATCCACTGAGTTTCCAAACAGCAAGATTTTACTTTCCTATTCAAACTAAAACTCCTACTTGTCTAGGAGTTTCAGTTTTAAGAATTAAAGTACAAGTAACTGGTCATTTAGTCTTGTCTCATCACTGGTCCTACATAAAATGCAATTAACAATGAATTATACTTAATATGGTGTTAAAATAAGAATGTTCTGGTCTCAGCTTCTATCTTGACTGTGTGTATGCATATGTGTAAATGTGTGTGTGTGTGCACACACGTGTGTGAGTGTACCCTGGAGTCGATTTACTCCTGAGAGTAGGTGTAAATTTATAATCTGAAAATGATTTATAGCTGAAAAATGCATATTGACTTTGTCTTACAAACTCAGCCAAATATTTTCTTTAGTACCACTCTGAAGACTATCATCTGCCTCTAATTGATTTTAAGATGCAAGGATTTCTCAGAACCTGGGAAGTGTGGTTGGAAACTATCACATACTTACCAAATATGGGCATGGGTTTCAAAAGGTTAAGAAATAACTACATCATTTGAAACTGGATAACCAAACATTTTCAGGAAATTGACTTTTCTTATGACATGGACAAGGTTTCACATAATATTTCAGCTGTTTGGGGAATATTTCGCTACTTTCACCACTGTCCATTTCCACCCAAATTCAGGTGCTGTGGTTTTGCTTTGTAAACCTTCATTGTTCAGCTGGGTGCTAAGGACTTCTACTGTCTGTTTTGGGGGATTTAACGAACATCCTGGATGGTTGAAAACGGGCAGTAAGAGGAAAATTGGGCATGTAGGGAAATTTGGATGGGCATGACAAAGCTGAGAAGCCCAGGCTGGCATCTGTGCTGAACAATGCACTGTAGATGTTCAGGCGTCTGTTGAAGGAAGACCCTCACTGCGTGGCAGCAAGACTAACAGGATCTTGACTCCTCAACAGGAACATCGTACTGTGCTATACTCATTGGAAGGGTGAGGAATGGTCTGGGAGAGATGGCTCACCTTCCACAGGGCTCCCAGGCACTGCCCGGAGATACTGGAGAGTATGCCCTTCCAGCCATACTAACCCCAGCTGGGCACTCTGGTCCCAGCCACTCCAATTTCCATGAAGCCCAAGTCTCATACCCCTTGTCCCACCCCCTGTCCACATTGGATCCCTTTCTTCTAGCATGACAGGTAGCCTGGTTCCTTCCAGAGTATTTTTCTGGTCTATTGTTACAACTTAAACTTACACTTTGTTTCTCTTGGGCTTTCCCCTTTGATGCCCAGTTTGAAAGTTAAGAATGAACATTTGGTATTTCTCTTTACATTCCCACTATAACAACTCCAATGCCATTGAAGGTGATGTTGATATATATGATTGGTTAATGGACAAGTCATTTACAAGTAAATGAGGGAAAGAAATGCAAAGAGATTAAAATCCTAAGAGTATCTCAATATATTCAGACTCATTTGATGTTAGTTGCTTCTAATACCTTTTACCAATTTATCATTTAATTTGTATGTTTCCTTATGAGTTTTTGCTCTTTCTTTTTTGATAAAATGTTTCCCTCTTTATATATTTTTTAACTTAAAGACAGCAGAGTGTGTAATATTTTTGGAGTCAGGGCTATGTTTACGTTTCTTATTGTATGCTTAGCAGGATTTTCCCTTTCCATTTAAAAAAAAAAATCACTGTGGTAGGGAATTTTCTAATTATTTCTCTGTCACTCAGTCCCTATAAATTCTCTCTCAATTCAGAAGGTAAAAATGCTAGATTTTCACTTCCCCAGCTTCCTTTGCAGCTGAAGTGGTCATGTGACTCAGCCCTGGCCAATGAGAGAAAGCAGACTATTCTGGGGGGTTTCTGGGAAAGATTTTTCCTTGGTTATAAAAAGAGAGATCTACCAAGGAGTGGCCTCCTACTGTCCTTGTTACCTCCTTCCTTCTTGTTTGGGGGAGTAAGTCCCATTTAAACAGAATGCTTGGAGCTGTGATAGTCATATTGCTTCCATGAGAAGGTGTACCTGAGGACAAAAAGTCAAACAGATGAGGACGGCACAATCAAAGAATATAAGAGCCTTGGTGACATTGTTAGACCTCTGAATCAACCTGCAATCGCCTTCCTCCAGAATGCTTGTGATAGGATATATGCAAAGCCTTCATGTGTTAAGACACTGTGACTCAGGTAGCTGATGACTTACAGATAAAAAAAAATCTCACTGATACTCTCACTCATATTTTCTTTTAGTTTGTGTGTGTCATTTAATCCAAATTCATTTAGGATTTGTTTTGTTATCTGTTGTGAAGTTTGTTTTTTTGTAAATGCTTAATGAATTTTCCCATGAACATTTACTTAAGGATTCATATTTTATTTAATGTTTCAAAATGTCACCTTTATCATATATTAAATTTTTATCTATAATAGAATATCATCAAGCCTCAAATTTCTCATTAATAAAAGTATAATAATAATAGTACTTATAAGGTTGAGAGATAATGCTTATAAATTTCTAAGCCCAGGTCCTGGCACATAGTAAATATAAAATGTATGATAACTATTATTATTACTCATTTTCATTTCTATTATTAAATGATTTCTATCTATAAACACATTAATTGGTTTTATTTTCTTTGTTTTCTGTCTTTGGCTACATATTTTCATTATATTCTGTTTTTAATTCTAATGGCAGTTAGCTTTATACTTGGAAAAATTATGTTTGACCTCTTTTTCCTTAACTGTAAAATCAAGCATAAAAATGGCATTTTTAAGCCTTTCCTATTCCAAATATGCAGTTTAACACTTTTTCAAATTCCACACTTACCTATTGCTCACTTCCTCTTCTTACTTCCTGTATTTAGTTAGTAAAGTCTGGGATTTCAGACCAATGTTATTATAATTAAATTTTGTTTTATCTTAAATATATTGTTCTTCAAGACCAGTCTTTACATTTGTATTTAGTTTGGAAACCATATTAAGCAACTTATTCAAACTTGATTTCATGTTTATTGGCTATATGTTTATCACATCCACTCATTCTTTTTTTATCAGAGTGTATACCATCTTACAGCTTCTTTTTGCTTCTCTCAGATGTTTGGAGTCTATTTTAAATAACCATCTTTAAGAAAGACACATGAGGACATGTCAGTGACAACTTGTCTTTTAGAGAATGTCTTCCTATTGTCTTTATATGAAAAAATTACAGAAGGAAATCTGGGATCACCAAAGGGAAGTGAAAAGTAGAAGATAAGGTCAGAGAGATAATGCTAGAGAAGGGATGATTGCCAATAGGTGGTCAATAGGGTGGATCTCCTTAAGCTTATGAAAGATTTGGGCTTTTTCACTGTAAATATCCAGGAGAGCCATTGAATGGTTTTGAGCTGAGGAATGGTGTTCTAACTTTCACTTTTAAATGATAATTCTGGCTACTGTCATTAATGGGCAAGAGACCATTGTAATCATCAAAACGAGACATGGAGATGATGATGTCAGGGTGGGAGCAGTAGAGTTTCTGAATATGCTTTGAGGGTGGAGACAACAGGATTTTCCTAATGGATTTAATGTCACATCGGAGAGAGGAGATGGCTTGACCCTGAGACTTGGGTTCTGAATGACTGAAAGAATGAACCTTCCATCAACTGACATGTGGAAGGCTATGGGTAGAGTAGCTTTCAGGGAAGGGGGACACCAGGAGTTCAGTTTTAGATGTGATGAGTTTGAGATATCCATTATTAGGTTGACATGAAAGTAACTGCAGTTTTTGTCATTAATTTTAATGGCAAAAAGCACAATTATTTTTGCACCAATTTAATAGTTAAGTGGAGATGCTTAATCAGCATTTGCATATATAAGCCTGGAGTTTTGGAGAAAGGGCTGGATTGGAGATACTCATTTGGGAATCATCAGCATCTAGACGGTATTTCAAATCATGAGCCTAGGTAGACTCTCTCAGTAATTTTTTTTTGCTCCCTACATTGAATTCCTATTTTCTCTTTATGCATATTTGAGTAAGAGTAGAGTTGTATTTTGGTTTGGTTTTGGTTTTTTTAGAGACTAGGTTTATAAAAGACACAAATACATTTTACTGGTCTTGGCCCTATTCATTGCCTACTTCAGAGTCAGCTGAATCCTTTCTCCAATCCATAGCTGGAGTGCAGGCTCATATGCTCAGCTCCTAGTCCAGTACAGCAGGTACCCACCTAATACCATTCTGATGTAGTGAGGTGGTATTTGTCTCTCATCTCTGCTGCTGGATACTCTGATGTCTCAAAGTGTTCAAGTGCTTAGAATCCACAATCCAGCATGCACTACCCCACAGTCTTTCACCCACCATGGCCAAGCCCTCCAGCCGTTCCTTCTTTTCTTTTTGTTTTTTAATTTTCTGAAGTTATTTCTTTAAGAATTACAACAGGCAAAAACTGTATGGTAAATAGATTCCTCCCCAGACTCAGAGCCTGGGGTGAGATACAAAATACCTCCCTACCTGTATTTCAGTGGGAATATTATTCATCATGACATACAGCCTGAATTCACCAGGAAGGAAAACCTGGTTGTTCTCCCACCAGCCCCATCTGCCTTGCTCCATGTTCTGGCTTTGGATTGTTCATAGGAAGAGCTTTAGTCTTGCTCTGTGTTCAAAACTGCTTTAATGGGAAACTAAAAGAGATCCATAAAAAGCTACTAGTCAGATGCCATTTTAAGCCAGTTCAATGGCAAAACACAGTCACAGAACACATAGTTTGTGTTAATGCCATAGATTTCTAAACTCTCATCAGCAAAGCCATCATGCTAAAGTTAACAGAGAAATTTTAAACAGTTGATAGTAAATTTCCTCCCTCAGATCTCTGAACATTTTGTAAACTACCTCATCTTTCTTCCAGCTACAAATAATGTCCAGTTCACTCTCAGGATTTAGCTCGCCATGGAGGCAAGTTTGTATACATTTTCCCAACAAGGTATAAATCCCATAGCTAGGAAAAAGAGTACTTTTCAGTCTCTAAAGACACACCCATAAATATCCAATGTAAGCAAACTAAAATTAGAACATGCGACCAGTTATGGAGATTTGGTCTGGGCCCCCATTATCCTCCTCCTGTCAACACCCCTACTTGGAAAATTAACGTTTATTAGGTTCCTATGTCACCCATATTTAAGATTCCTGTAGCACTCACCCTTCTTTATTCCCCCAGAGCCAGGAGAAAGCAGGATGCTCCTCATCCACCTATCCTTGGACTGTGGAAACTAGGAAAAAATAAAAAGTCATATTTGCACTTTTATGATCCAAGATGCAGCTCACCAAGTGCAATTTTCTATGCAACATGCAAACTAAGTCCAATAAGTAAAGGATTAATGCGTGAAGAATTCATGATCAAGGTCACACTCAATCAAAGACTTGCTAGAGGTGTTTGGGAATTGCGTATATGTTGCTAGTGGGTTGCTTAGAGCAGAAATCACCATCCTCAGCCGGGTGCAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACTATCCTGGCTAACACAGTGAAACCCCGTCTCTACTAAAAATACAAAAAAATTTGCCGGGCGTGGTGGCGGGTGCCTGTGGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCTGGGAGGCGGAGCTTGCAGTGAGCCGAGATCGCGCCACTGCACTCCAGCCTGAGCGACAGAGCGAGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAACAAGAAATCACCATCCTCAAGGATTTATAGTTGAGGTAGATAATAACAAAGCAAAAGGAAAACAAAGTCACAGCAACACAGAAGATAAAGGGCAAAACTCAGAAGGCAGGTGTAAATTTTTCTTCCTTTGAGTTTCCAGAGTTTTACTTCTTTTGAAACCCTTCTTTTACTTTTACTACAATGTTTTGCCCTTACTGGAACTTGAAGTTATCCCTTGGAAGCCCATTTTGGTGCTTTGCATGCGGTAGTCCTCTATAAATGCTTGTTGAATTAAACAGAAGATTTGTAATGTGGTAGATTAGCACACATGTGTGCACACACGTGTGGTTAAATTTTTTTCAGTCATGTCTAAGACCAAAGAACAAGAGCAGGTTTGGAATGGAGATTAGTGATACAGAAATGGAGGAAGATTCAAGCTATTAGGTGTAATGTAAGGGGTTATTGAAATGGCTTACTACAAGCAGAGAAAGGAAGTGGAAAATGAAGGAAGGTGACTTCAAAGGATGAAAGAGGAGGCCAAAGAACCAGAGGGGGAAAGGAAAAGATTTAACAGAGTAAGAACAAGGAAGACGTTGAAGATAAAGAGATTATAGGCAAAGAAAGAGAGTTCAGAGCTAAAGACCTTTGAGATCTTCAGAGTTCCAAGTGCTGATGAAATCTACAGTGGGGAAGGAACCTGGCTGCACCACACACAGGCTAGGACGTAAACAGCGCTCCCACGTGGTCGACACAAGGACCCTGAAGAAAGGCTGTCCAAAGAGGGCTGACCTGGAGACAGAGGTTTATGGGGTAAAGGAGATCAAAACCCTCTGTGGCCAAAATTTTAGAATAATCATGGGTGGAGGGAATCATGGTGGGTGGAGGTGGGATTACGGTAGAAGGTAGAAAAGGAAGTTAACAAAATTCACATCTATTGTTACTTCGTAATTGTAAAGACAACCAAATTCTTCGGTAAGATCTACAACAAACGATTAGAAATCTCCACCTGCATTTTTAAATCTTTTTTTTTTTTTTTTTCTTTTTGAGACAGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGTGCGATCTCGGCCGACTGCCACCTCTGCCTCGTGGGTTCAAGCGATTCTCCCACCTCAGCCTCCCGAATAGCTGGGACTATAGGCGCCCACAACCATGCCCGGCTAATTTTTTGTACTTTTAGTAGAGACAGGGTTCCACCATGTTAGCCAGGATAGTCTCGATCTCCTGACCTCATGATCTGCCTGGCTTGGCCTCCCGAAGTGCTGGGATTACAGACATGAGCCACCACGCCTGGCCTAAATCTTTCTTTACAATAGATAATATAGTACAAAATGGAACCTGTTTCTTGAGCCTTATGGTAGGGAGTGGGCAGTTGGGGAAGGTGCTCTTAAATCTTATCTATCCTGTAAGTAAAGAAAAGTAGACCCTTGATAAATGTGGTAATTAGAATTGAGGTAAAATAACAATTCTAGAAAAGAACCACAAAGAGGGACATTTTGATAGCCCTAGCCTTACAGCAAATTGAACCTGGATGAATGACTATTTTCTACAGTACGGTATATCTTTTTCAGAGAGTAGGATGGTGAGTCCCTGGGCAGAGGTGGGGAGTAGGGAATGGAATCGGTAGAGTTGCACTCACAGAAGATGAATAAGTTCTTGGAGATCTTATGTACAGCATGGTGACGATAGTTAATACTACTGCATTGTATACTTGAAATATGCTGGCCGGGCGCGGTGGCTCACGCCTGCAATCCCAGCACTTTGGGAGGCCGAGGCAGGTGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCAACTAAAAATACAAAAAATTAGCTGGGCGTTGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGACTGAGGCAGGAGAATGGCGTCAACCTGGGAGGCGGAGCTTGCAGTGAGCCAAAATCATGCCACTGCACTCCAGCCTGGGTGACAGAGCGGACTCCGTCTCAAAAAAAAAAAAAAAAGAAAGAAAGAAAGAAAGAAGTGTGCTAAAAGAGTAGATCTTAAGTGTTCTCACCCCCACGCCCCCTCCCCCACACACACAGAGTAACCATGTGAGGTGATGAGTATGTGAATTAGCTTGACTGTAGTAATCATTTCATTATGCTTAAATCAAGTTTAGCCTAAAACTGCCTCCTTACATATTTTAAGTTTGGCCTAAAGGTTTTTCTGTACATGGTGAACTATAACAAGTGGACGTATAAACAGACTGTAGCCTGCACTTGTGCCAATCACCAAGTTTTGGCCCATCAAATGTAGCCAACTGTTATAACCGTGTTCGAATAAGGCAAACACTGGGCTATAACCAATCCAACTGTTTCTCTACCTCACTTCCATTTTCTGTACGTCACTTTCCTTTTTCTGTCCATAAATCTTCTTCCACCGCATGGCCGTGCTGGAGCATACTCTGACTCTGAAGGCTGCCCTAATGTGTGAATCGTTCATTGCTCAGTTAAACGCCTTTAAATTTAATTCAGCTGATGTTTTTCTTTTATCAGATGAGGATGAGGATGGGATCCAAAGAAGAGCTTCTAACGACCCCCGAGGAATGCTGAGTGACCGAGCAAGGTACCCACTGAACCCAATTGTGTCCGTTGATCTCTTGGAGCAGCCAGGGATCCTGGTGAGTTCTCTCTGTTTCCAAAGCTGCACAGATTTGTGTTTTAAGCTCTCCAAGTTCCTTTGAGCAAATTCCTGATCCAAAGTGGATTTGGAAGTCACGACAGAAACTGGACTGGGTCCAAGATTGGATTTGATCTGGTAATTAACTGGCTTGGATCCAGTTAGAGGCCTCTTACATCTGGGTCAGAAAGAAACCAGTAGTAAATGGCAGTATTGCAGAGGGTATAAAATTTGGCTGTTGGAAATTCACAGGAATTTTTGTGTTCTACCCCGTTGTTTCATTTTTATTTTGCACTCAAATATTTAAAAAAAACATCATTGGCTAAGTTAATTAAGAAAACCTGAAAGGAAAACCAATATTTAGATAAAAATGGGATCCTTAATTTCTGAAGAACTGAGTTCCTTCTGTGTTATATATCCATAAGTATTAGGCCCCGGAAGCAGCAAAATCTTATCGAAATAGCAAAATCTTACTAAAGATAATTTATAGTGGAACATTCCAAATGAACAACATTGCACTGAAGTGTATTTGAAAATGAAGCCTTCCTAATTAGCCTCATCTAGGGATGCCTATTGATATGCAGAGGCTTCTAAAAAGATTTCAGTATTTTTATTTGAAGACTTTACAAAAGGCAAATAAAAAGCTTAAGTGATTAATTGATTAAAAAATTTAAATCTGCCTTGCAGTCTTTGCTGACAGCTATAGGTGACAGGATTAGGCATGTACAGAACCATGGAACATGGGGAACTTTCTTTCCCCAAAGGGGGAAACTTGAGAGCTGATGGGACTGCTGGAAAAGATCCCTTTGTGACTGACAAGTGGCTGCCTGAACTTTTGATTCAGTATTGCTGCAATGGGTGAGTCTTTCTCTGGCCTCCTTGAGCTCTTCACCTTCCCCACCCTGCTGCAGGCAATGCTTTTCTTTCTGTTTCTCTCTGTGAAAACCGGTTGCGGGAATGGTAAAAATCACCACCTCTCGCAAAGTTTTAATTAATGAGAAAAAGGATTCATGAAGCTAGTCTTAAGCTGTAGCAAATCTAGCGTACTTTGTGCTATGAATTTGTCTTTTTGTATCCTTCTGTCATGAAGAGGGGTGCCTTAGGATAGAACACGGGCTTGGGACCCCATAAGTTCACTGTTCAAGACATCCCAGCAAGCTGGTCAGTAAGAAACCTTCCTGCAGGTCCCTGAAACAACAACAACAACTGGATGAGGTTTCCACCTTGTCTTGTTTTATGTCCTTGGGAGCTTGACCTTGTAACCAAGTGGTGGTACTTTCTCTTGCTCTCCACCATCCAGGGCATGGGAATTTTGGGTTCATGTCAAAGGCATTGCAGGTGCCTTTGCAAGCTCAACATTAGCTGCTCTGGACTTCTTCTGGGAAGAGCAATGGAGATTGCCCAGCACTGTAGCTTAGTGGCTAAGGCTTTGCTTTTTCACAGCGGCAACCCAGGTTCACTCCTGGATTAGGGAATCAGTATTTACTGGTTGCTATCTCTGTGACCTTTACCGTTTGTTGATTCTTGGCCCCTCCATGAACAACTTCCAGCTTCTCTTCTTGAATCTTCCTTTCTCTCAGCTACCTTTAAAGATTCTAGATCTTATAAAAACTGCTAACCACCTCTTTGAAAACACCTTGTACACTGTGGTTAAGTCATAACATTAGTTAAGGCTTGTTGGTTTCAACTGTAACGTTACTTTTGGTAAAGGTTAAAAACCAGATATATTGGCTGTTTGGCCTCGCTAAAGTGGAGTGACTCGGCTTTCTCTATTGAACAGATTTTTATGTATGTTAAAGGATAATGAAAGAGTTTTGTTTGCCTTTTGAATAAAATACAGAAAAAAGAAGGGGAAGACAAGAGACAGATCGTTTGGAAAGCTAAGTCTTCTTTCTATCAATGGGTGAATGTTTTTGCCTTTTTAAATTTTTTTGAGTCATCATTTTGGCTAAATAAATGACTTACGGTGACTTGGAATTCTATTTCATAATATCAAGTATTCTAAACCTTTAACATATTTGATAAGCTTCCCCAAATCAAATTTCAGCTTCAAAATTGTCTTTTCTGACCTCTAACTTTGGGATGCTACACAGGGCCCCTGAAACATCCAAAAGAGAGGTCAACAGGATTATTTGACATGTGAAGTTACATGGGAAGCATTGTCAAAATAAAGAATAATGTTTAACCTTCTCTAGGTTATATTTTAGTGAATGATATTAATATATGTTCCAAAATTGTATGGGATTTCTAAAATTCTAATATGTCTGAGTATATGTTATCAATCATAATTATGGTTATTATGCTAAGTTATTGTAGACCACAGAAATAACCAAATTTCCATGTCAATTGTGTCTTTATAACTACTTAAAGTCATTTCCGCAGTTAATTGCTTAATGCTGATGCAGTTTCCGAAAACTTTACAAGCATGCAAAATCCTAGCATATGGTGTCTTTTAGGAGGTTCCTGAAAGGATGGAAAGGACCCTGAAAAGTATTCTTGAACACAGGTTTCTAGTAACTTTAGAATTGTATCATTTGGACCAAGAATTCCTGGAACTTTAATGAAAAGACTGACTGGTTTATAAAACTGTTAACCCAGGTAGAATAAAAATTAATTGAATACCAAGAAAACACTTTGCCAGATTTTCATGCTAAATCAGCCAATACTGAAATTGTTTAGATATACAATTTGAATCAACTCTATGGTCTATGTCAAATTACCTATGAAAACCCATCAGTTATCAGTTCTATGCAACTGAATTGGAGAAACCACTGGTATTCAAGAGGGCATAAGTCCAGTATTAAGCAGGGACTCATGGAGAACCAGGAGGGCAGCCTTGGCCTTCCTGAGTCCTTAAAGCTTTTCTTATTAAAAGTTCTGCATTCCATGACTCATCATGGAAAGGATAAAATGATCCAAATTAAATATATATAGATGTAGTGACTTTAAATTGCAAAAATAGTTTATGACCAATGTTTGGTTTGTCGATCCCATATTCCTGGGAAGACAATCAAAGCTTCAAGCACATTTGGCTACCTGATGAACCGTTTAAATATTTATAGAGGGATTTCACTCAATTGTCATTTTCAATGCATGTTTTCTGGTTGTATAAAAGCTTTCCCATGCAAGAGAGCTGATGTTATAACAGTAGATTATTATATATGGCACAGTGTATTTTCACCAGGTAAAGAAAGCTTTTTATGGTTCACTGACAGGACAATCAACCCCTTCACAATCTAGAACCTGAAGACTGGATCTTCTGAGAATGTCAGAGAAAGACTGGCCTTGCCATACACACTGCAACAAAACTTTAGGACCTTGAACCTTGATTTCATAATCTCACACCTGAGAAGTTTCCCTCCACACTCTTGGAACTGTACACCCATTGGAACCCTAAAGGTAAAGCCAACCAAAGAAGTTTCTCCCTGGAAGGAGATAGCATCCTTGATGTGAACAGCTTTTCCCAAGATCACAGATCAAGACTTCTCTACTATCATGAGACTCTTATCTTTGAATAATTTTCCCTTGCTTATGCCTCTGTGAACAATAGAAGTGAAAGGGAGGGGGAGTCTGTTGTGTGCACTTATGAGGTATACTTATTTCTGAAGGATTTTGCAGACAGACTTATACATGGATAAACTTCTGCCTTGATAGATGAAAGATGAAGGCCCAATGTAGGTGAGAAATTTTAATGGTATATACATTGCCTCACAATCAGTCAGAAACAAAGCATTGGTCACTCCTCTTAATCCACGTCATAGGTTAAAGAGAACATTGCCAGGAGGCCTTCACTCTTCTAAAAGGGCATCATTTGTTAGGTCCTATTTCCATGGCTTGGAGTAAAAGAGACAGTGATTAGAAATGCATTCCTCATGATAGGCTCTATAGCAGATTCTACTGTAAAGGCTGTGGTTACACAAGACTTTAAATTCTCTTGTGAAAGTTATGTTAAATAATAGAATTGCTTTAGATTACTTACTGGCTAAACAGAAGTATCTGTACAGCTGCTGGCACTTGTGGCCTATGAAGAAATACATCACATAGGGTATTATAGAGATTCAGTTGTAGGGGATTAACAAAGAGACTGCTTAGTTGAGTGAGTAAACTCTTTAGCTCCTTTTTTGATCTATTTAATTTTAGGTGGTTTCATTTATAAAGACCCTGGGTAAGGAGCATACTCCAAACTCTTGGTGTTATCCTCCCAACAGTCATAATAGTGTCTCCCTGGTGCACTGTATTCTCTCAAAAGTTTTAAATGTTTGCATGCAGCCATCTCTGTCATGTCAAATGGTCTCTCTTCAACTGGAATGACAAGAACTGAAAGAAATGTGTGGCCATGAAGGCACCATAACCTATGAATGACATGCTGAGACCAGAAACCCAAAATGATGGTAATTGAGAGTGGTGCTAAGGCCCTAAGTTTTGGTCACACTCTCACCTAAGGGGAGACTTTTAAAACAAAATTATGGGAGGCCATTGTTCAGGACTGAGCACATGCATTAGGCCCCAACAGATCAGACCAAACCAAAATGGAGCTGCTGGTGCTAAATGTCACATCAAACTAAGACTTTAAGAAAACATACATCCTAGAACAGACCAGGTTTTTTTTTTCTCCTGTAAACAGGACGTCTCAGCATAAAGAGGTCCCCTCTACACTGACCCTTACAAAAAACGAAATAAAATAAATGAACTGAAGTCCTTGTCCCCACCTTACAAACCCACTGTTCTGCTATTTCCCAGTGGGTTTCAAGACCAAATAAGTATATTTACAATAGTGATAATGACATCAGTGACTAAAGTTTTGGTCAGTCTCTCAAAATTAAGAAGATGACCAAAAGTGGGGAATTGTTTAATCAGGTTTAGCCTAAAGGTGCCTCCTTACATATTTTAAGTTCAGCCTAAAGGTTTCTCTGTACATAGTGAGCTATAATAATTGGAGGTGTAATAAGACTGTAGCCTACACTTGTGCCAATCATCGAGTTTTGGCCAATGAAATGTAGCCAACTGTTCAAACCATGTGCAAATAAGGCAAACACCAAGCTGTAACCAATCCGGCTGTTTCTGTACCTCGCTTCCATTTCCTGTACATTACTTTCCATTTTCTGTCCATAAATCTTCCACCATGTGGCTGCGATGGACTCTCTGAGTATACTTTGGCTCAGAAGGCTGCCCCATTGGTGAATAGTTCAATGCTTAATTAAATTCCTTTAAATTTAATTCAGCTGAAGGTTTTCTTTTATCACTATGTATATCAAAACATCAAATTATGTTGTTATAAAGCTATTATTTTAAAATACAAAGTAAAAATACAGTAAGTACTTTTCACAGGAAATTGTAGAACAAAAAATCCCAGACTTTCTCTACAGAAGTGGCCCATCTGGCCTGTGCACTAACCTGGGGGACCTTGACCAACCAGCAATGCCACTGCCTCCCACTCTGCCTGTGAACCTCTGCAAGATAAGAATGCTACTTCTGCTTGGAGTTGAGACACATGTTTTCCACTCTTGGCCAGAACTGAGGATGAGAGTGTTTCTCTTTAGCAACAGTCCTTAGGCAGAGACAGGAAGGGTTTGACTTTGTGGATTGGCCTCACCAGTGTGTTTTTTTGGCCTCTGGTTTATGCTGAGAATTTTTATCCACAGGTGGATGCTTGTATTGGTTTTCGCTTGGGAGTATTCGTCTGAGAAATCACTGCTGCAAAACTGGGATAGTCTGGCTCAGGAAAATCAAGCTTTCCAGCCAAGCAAGCCTCTTAGGCTGGGATTGCAGAGAGTGAACATCCTTTTTCACCTAGACTTAGGGAACTGAGTCTCAAAGATGCAGAAACAGCAATGAAAGCAGCCATATCGGTTGGTTGGCAAGAATAAGGAACATTATTTCCCCCCGATTCCAAGAAGAATGGATGGAACACAAAGAAACCAGGGGTCCCTGCTGGGGTCTCATGCTTCCTGGGGACATCACCTCCCTCTCTAAAAGGCTGAAGCCATCACACTTAAGTTTTCAACTTCCCTCTTCCCTCTCCATTTCAGAGCCTTTTTGTAGCTTCATCACTCTTCCTTCCTTAAATCATCTTTATCTTTCTGGTCTCTGAGAAGCAAGTGGCCTGTGTCATGGGCAACTTTCTTAAGTAGATTTCCTCTCATCGACATGATCATCTCTCTTCTCTGTACATTTTCAAGACTTGTATATCCCCCAAAAAGTAAAAACCCACCTTCAAGACTGCTACCCTGCGGGTCAAGCCCTCCTACCCTTCTCAGACTCTCTTGTGAATGACAGCTGGTGATAATACAAAATAAATATTTGGTTTCTGTCCCCAGTTCCTGACACTCAGCTCCCCAAACCCACAGACTTTCCAGAGTGATGAATGTATTTTGTTCCTTTGTAAGCAAATTAGATGATTGTTGGCTTGGGGTCCCTACTAGCTCCAAGACAGGGCTGGTGGCCAGGAAGGCCAAGACATTATTAGAATGTTGGAACTTTGAGTCCTACCCCTTAACCATCCGGGAGGGAAGAGGGGCTGGAAACTGAGTTAATCATCAATGGCCAATTATTTAATTATGTCATAAAATTCCTAAATGGTGGGGTTTGGAGAGCTTTCAGGTTGGTGAACACATCAAGGTGCTGGGAGGATGGTGTGCTCAGAGAGGGCAGGGAAACTCTGCACCCCTCCCCTCATACCTTACATCTCCTTGCCTTCCATCTATTTGGTTATTCCTGAGTGGTATCCTTTATAATAAACTGCTAATAGTAAGTAAAGCACTTATTTAAGCTCTGTGAGCTGTTTGTCTCCAAATACTGATCAACCTTTAAGGAGAAACCAATCTTATTCACTCTGCTATGTTGCCATCACATAACAGAGATTTTGGAGGAAATTATAAAGATGATTTTTATTGAAATCATCTCTCAAATTGGTGTGCTCTATTTATTATCAACTCAACTCCCCCATTTAAAAAAAAATCATCATTCACTCACTTATCTTCTCTCCAGCCATCACCCTTTTGTTCTCCTCTTCTTTCTATTCCAACTTCTCATAATGTTGCCTACTTTCTATCTCCAGCTCCTAATTTTTCAAGCCATTCTCAATGGCTTCTGTCCCCACCACTTCCTAAAACAGCCCTTCCTAAGGTCATCAAAAAACTATTTGTCACTATAAGCAATAAACTTTTTTTAATCCTCAATTTTACTTAATTTCTCATTGGTATTTGATAATGTTAATCACTTCTTTCTTCTTTCTTCTTGAAATGCTGTTTTCACTTCCTGGATATCCCTCTGGTTCCCTGGTTCTTCTCTGGCTCCATTGCAGGATCATGCTCCTTTATTCAACCAATATTTGTTGGATTTCTTCAAGACTGGTTCTAGGTCTTCTTTACTCACTGTATCCTCTATTCCAAAGCACCATCAGCCATGCCTCTGGCTTCTATTATCACCTGTTAGTAGATGACTAACACATTTACATCTTTAGCCTAGACCTGTCCTCCGAGTTCCAGTCCATTATTTTCATTTACCTGCTGGATCTACCCTCATGGACATCTCAAAATCTCCTGAGGCTCAATATAAGCAAAAGCGAACTCATTGCTGTGTCAGTCAACATCTTGGCAGGAAGAAATTGCACCTCCTATTGAAAATAAGAATTTGACAAAAAAATGTTAATAAAAGGACTTTTTGCCAAGGTGTGGACATGGTTAAAATAAACCAACAACGAACAGTAAGCTGGTGAAATAAATACTCTGATATCACCCTCTCTGCCCCGTGACCTCCTGACCATTGGCAAAACCAAGCCAGACACTAGAAAATATGGAAGCTTGTTGAGGCATAGAGGTCAGCCTTCTAGGGCTCAGATCAGGGTGGAAAGGGAATGGAACTAAAGGGACAAATGAACAATATTCAGCATGATGATTGTGTTAGTCCCGTTTGCATTGCTATAAAGGAATACCTGATGGATAATTTATAAAGAGAGGTTTATTTTGCTCACAATTCTGCAGAGTGTACAAGAAGCATGGCACCAACATCTGCTTCTGGTGAGGCCTCAGGAAGCTTTTACTCATGGCAGAAGACAAAGGGGAGCCAGTGTGTCACATGGCGAGAGAGGATCACATCGTGAGAGAGGGTGCAAGAGAGAGGCCATCTTCTTTTAAAACAATTAGCTCTTGCATGAACTAATAGAACAAAAATACACTCATTACCATGGGGAAGGCACGAAGCTATTCATGAGGGATCTGATCCCATGACCCAAACACCTCCTGCTACCCACTAGGCCCCATTTCCAACATCAGGGCTTACATTTCAACATGAGATTTGGAGGGGACAAACAACCAAACCATATCAAGGATCTTCCAATCAAAACAAGTTTTCTTGCATCATTCCCTACTTGGGGAATGGTACCACCATCATCCAGCCAATCAAACCAGAAACGTAGAATTTTCTTAATGTTTGTTCTGCCTTTTCCTGCAGACCCATGCCATCGAATGTCCTAGCAGAACTCCTCAGAACAATCTGGCTTAAACTATTTCGACACAACCTGCTTCAGATTTACACATACCTCTCATTCATAGCTCGCGTTACAATTGTAAGTTATGTTGCATATAGGATTACTTTACTAGCATCTTGCCTTCCCTCTAACCTATAAAATTCATGTTGGCAGAGACTATGATTATTTTTGTTCACCATGATTTCTCCAGTCTCTTGCCACAGTCCCTGGCATGGAGTAGGCACCGAATAATATTTGTTATTTGAGAACATGTTAGAGCTTGTGGGGATATATAGATCACACAGTCACATTCTATCATGAGGGGAGAGCAGGAATCATACCGTCAGAAGAGAAGGTTAAGCAACTTGTCCAAGAATTCAAAGTAAATTATTATTTTTTAATGGTAGATTTACTATTAACCAAGTGTTGGATCCTAAGAGTTTTACAAATGTATCGGGAGTAACTCTCAATGCACAAACTCAGACATATGGGAAATACCTATTACTATATTTTCTTTAAGTCCAATAAAATATAACTTTGAACCTGCTAAGTAGGCTGCAAGAAAATTCAGTTATTTCAGGTTCCTTCCCTGGTCTAAGAATTGCAACAGAATCAAGAAGGTTTGTGCAATATCTAGCAATGATAGGAAGGGCTTCTAGTCTCCAGTTAGTTGTAACCCTGCTGAAATCATAATGAGTCTATAGTGATGTGTTGAGATTAGAGGCTCACTGCTGCAATACTATCTGTAGGTTTAGTGCAGGAATCTGCATCTCGGCTGAAAGCCTCAGAACCCAGAGTCCAGCTTACCTGAGCATCCTGAAAAGAACTCCCATTACTTCCCACTGTCGAGACTTTAGAAGAAACTCTGTGGGTATGTGCTCTTACCCCACTCTGGCTTCGGTCCTCTCTTTTTATTGTAAAAACAAACTGATAATCTCTCCCTCCCTCCCACTTTCCCTCTCTCCTGGTATCCCTCAAAAAGGATTCCTTAATGGACTTTCATCAATAAGCTCAGGATTTAGTAAAGCAGAAGCTGGGAAGGGAAGTGGTTTACAGGCAACTCCTGCTATAATTGAAATTCTTTTTCAAAGCAAAGAAACATAGAAGACCTGTTTACTTTGGTAGAATGGATGTGGGGGAGGAGAAAACCAACAGAAAACAAAACATAACTGTATTTCTCAAAAAGTTTATTACCACACTAATATCATTTCATTAAACTTCACAGCAAGCTTGTGAGCAGTTAATTAATACAGCCTCCAACTTTTAGATGAAAAAAAAAACTGAAACAAAGAAGCTTTGAATAACTTTCCCAAGGTAACTCAACCAGTAGGTGACCAAGAAAGATTTAAGTTCAAACTCTGACTTCCCTGGAGCTTCTGTTCTGGCTCTGGGGAAATGAAGAGGAAGACAATAACTGGATAAGGCTCGACATCTATCATGACTTGACGGCATGAGCCAGGAAGCCTGTTATTAGATGGAAAAAAAAAAACAGGCTTAATCGCTTGGAATACAGAATGTAAAATGGGATTTCCCTGGTGTAGAGAAAAGGACAATAGGAAGAAGTTGGTTTGAGAAGTAGAAAGTAAAAATCTGAATTATCAAAAGAAGAAATTTAGAAAGGAAGATGTCCTTGGACTCGAGGCTCTGACTTGGATTTTCCACCTGTGAGTCATTCAACTTGTTCCAAAGGCAAGACGTGTTTTTTTTTTTAGCAATAGTTTTGAGTTGAGATTTTTTGTAATGAATTCCAAATGAAAACCCTTGTCCTCTTCGTGGGACAATCTCTTGGTTTAATGCCAAAGATTTACTGTTTGATGGAGAAAATGTTGTCAAAATACGGTTCCCATTCCATAGTCATCAGAAAACACATGGGAGGGATATATACACTTCCTGGACACACACACACACACACACACACACACACACACACACACAACACAGACACATGAATAACTTTCCTAAATAATTTGATGATACATTTGGAATTGATCTCATGCATATTAAACCCTCTGAAAAGTCCATGTCTATGAAGTGAAGCTTTAAATAGTAAGCTTTGTTGCCTACAAAGGTCAAATACACCCTCTTGTGGTAAAATGGCATATTTTATTTCCAGATGATTTCTATCATAGAGCTCACAACATGGTAGTTTGAAGAATAATGAGTACTTGAGAGGAAACAATGAAACTTATAATGCTTTTATGCTGTAATGTCAATGCCATTTTTAAAAAAATATTAATTCTATCTGTCTTATGGACTCCCATAAGCTCTAATTTTCAGATGAAAAAACTGAGGTTCCAAAAGCTTGTATAACTTGTCCAAGGCAAGCCAGCTAAGGAGTAGAACAGTGAAGTAAAACAAAGACATTGAATGTCCTCTCTATTACAACAAACATACCATAATAAAATGGATCCAACTGATTCCCAAAAGTTATGAGAGTTAATTATGAGAGTTAAGGCTGAAAAACTAAGACTGCCTGAAGGTGAATGTAATCTTGTAACAGATGCATGCGTAACAGATTGTATCAATGGTCTAACAGTTAACTGCCATAAGCAGGGGAAGGGGTCAGCTACCCAGGCGCGGGAGGACCTTCATTTTATTATTTGGCTTTCCACCCAATACTTGCTGTCCATCAGCCAATCACTTGTGAGTCCAATTCATCAATATGTTTTCAGTGTCTGATGTCTGCTAGGCTGTCCTAGGAACTAATGATATAGTAATCACCAAGACAGATAAGATCCCTGGCCTCACAGAGTTTATATTCAACCTGGGTATATTGGTTTTCTGTCATTGTACAACAAATTATTCGAGTGTTAAAACAACACTCATTTATAGCATGCAGTCCCCAAGGTCAAAAGATGAGCTGGAGTCCCTGCTTAAGACCAAAATTAAGGTGTTTGCCAAGCACTGCTCCTACCAGGAGGCTCTTGGGGGAAGAATCTGCTTCCAAGTTCATTCAGGTGGTTGGCAGAATTTAGCTCCTGGTAGTTGTAGGACTCAGTTCCCCAGTCGCATGTTGTCTGTCTGTCGGGGCCTCTCTCAGCTCCTTCAGGCTACTCGCATTCCTCATCCCATAGTTCCTCCCTCTTCAAACCAGCAATGACACATCCGTTCCTCTCATGCTTTGACTTCCTCTAACTTCCTCTTCTCGACCAGCTGGAGAAAATCCTCTGCTTTTAAAGGGCTCCTGTGATTCTGTAAGACCCACCTGGATCATCTCTTTTTTTGCCCTATAATATAATCATGGGAATGATATCTAAGCATATTCCCAGCTTTCACCCACACTCAAAGGGAAGGGGAGCATACACTGGTGAAGGTCCACTGACAGTCATTCTTAGAAATCTGCCTCTCACAATGGGCAAGACAGTCATGAAAACAAAAGCATAATTTTTGGTTCTGAAGCCTAAGAAAGGAAATAGGCTGCTATAATAGAGAGAGCTGAATAGTGAGAATGAGCTAGCTGCACAGAAGGAAGAGTGTTCCAGACCAAGAGAAGATCCTGAGATGAAATAAAATTTGGGATGTTCTGGGAATGGAGAGAGTTCAGCAAGGGAGAGAGTGGTGCAAGATAAGGTTGGAGAGTTGTGTCCAAACAAGCTAGTGTGGAGATTTGCAGACCTTGGTAAGGAGCTGGGATTTTATTTTTAACACACTTAAAAGTCAATGAAGCATTTAAAACTCAGGAAGAGTATGAACTGATTTGTATTTTTAAAAGATATTTTTTTTTTGAGACAGAGTCTCGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCGTGATCTTGACTCACTGCAACCCCCGCCTCCCAGATTCAAGCAATTCTCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCATCCACCAGCATGTCTGACTAATTTTTGTATTTTTAGCAGAGACGAGGTTTCACCATCTCGTCCAGGCTGATCTTGAACTCCTGACCTCGTGATCCACCCACCTCAGCCTCCCGAAGTCCTGGGATTACAGGTGTGAGGCAGTGCACCCAGCCAAGACAATTTTAGATGCTGGGTAGGAAGGGGATTATAAGGGAAGAGAAGTAGAATCATGGTAAGAAGTTGGGGTACTTGGTGGATCCAGGACAGAGATGATGGGGCTGGGGCTATTGTGGAGGCAACAGAGGGGGTGTAAGGAGGGCTCTTCCAAAGATACATTTGAGAGCTTTGACTGACAGGACTTCCTGGTAGACTGTTCATTTCTTTGTTATATATCATCACCTAGAATTGAGATTTTACACATTTTAATAAAAACAAATGTAATGTCATTTGCAGCAAATATGTTTATGCACCTGGGAAGAGCAAGAGACTTGACTGCAACCCCAGGAGGAGTGAACAGAGGTGTCAGGGGTTGGGGAGCAGCACTCAGTGCAGAGGAGACCCCATCAGGATGTGTTGGAGAAAGAACGCAGCCCGCCAGCCTCAGGCTTCCAAAGCAGGTATTCTGGAAGGCCAGTCAGCAGGAAGGTGAAACTCCCCACCCCGGGCAGACTCCTTCAAACAGAAGGTCTCTCTTAGCCCACAGGGGACCACAGGATCTAACCTAGCAAAGGAGATTTCGATATAAAATTTCCTTTCCTGTTGGTCTGTCCTCAAAGATTTCACAAAGATTCACATAAATGCTTAGGGAATCTATGAACAAAATCTCAGGATTGTGTAGGCAAAGACCTACATCTCTAAGAGTGAATGGTGTAAATGAAGACCCATATGAGGAATCGAAGCAAATTACTTTCTTCAAAGTAGCCTCAGTGCAACTAACTCACACAGAGAAAACTTTTTGAAGAACTTTATATTCTCAAAGATGTTTAAGAAAATGTTACTTCATTTCAAAAAAAATAAAGCACAGGCCATCATAAAATAGAACAGGCATTCACTCCTACCCTTCATTATGTTATATATATAAAATGTATAACATGTATAAATGCACACACATACATACACACATCAATGTGGAGCCTTCTGTCCTTTCTACAGTCTGGAATCATTCAAATAAATATAGGCATTATCCATTGTATTATATTGAACTCAGCTGTAAAACCATTTGAGTCTATTTCCTTTTTTAAAATACCAGCTCTGTAATTATCATTTTAGTCCTTTCTGTGTCTGTCCTGGTTTCTTAACTCTTCCTGGATCCATTTCAGAAGTGAATATTTTAATAGGAGCCCTTCTGTGCCCTCAAGATCTTAAAATATATTGCCACATCGTTGCACATAATAGTCTCTAATATTTCTTTAAATCTCTTCCATATTTATACCTCCCTTCTTGTTACTAACATGGCATGGTGTTGCTTGTTTGCTTTTTATTTCACCAGAATCAGCAGAGAAAAAACTATTTTATTAGCCCTTTGAAGTAACAACTTTTGGTTGTATTTATCTCTTCAACTCTTCCTTCATTTTCTAGTGAATCAATATAAGCTGTTTATCCTCCCTAATACCCACCTCTTGCTTTCCTTTGTTTTATTTTGGATTTTTTTTTTTAATTTGTAAGATTATATACTTTCTTCATTAGCTCGGTGTCTTTATTTAAACTTAAACATAATGTCATGTAAAACTATACAATTTTCTATGTATTTTAGTCATGACCCACAGGTTTTGCTAATGAAATATTTTATTTTTATTCTTTTTGAGAAAACCTGTTGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAAGCCGAGGCGGGTGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAAAAATTAGCCGGGCTGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATAGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCAGAGATCGCGCCACTGCACTCCAGCCTGGGCGACAGAGTGAGACTCCATCTCCAAAAAAAAAAGAAAAAAAACTTGTTTTTTCAGGTATGATCTGGTTTAGGGGTTATTTGTGAGAGTGTGTTTTTAATTTATGCAAAAATCGCTTTTGGTCCATTTTGGTTTCATTGTTCATTTCTAGTTTTATTGAATTATGATAAAAGAATGCGGTCTATAAACTTTGCACTTTTGGTAAATCATTAAAGTTTTCTTTCGGTCAAGTACATCATTGAACTTTTATAAGTGTTCCATAAGCATAAGAAAAAAAAATAACCTTTTTTTGTCATAGAAAGACATGTTGTCTCTATCAGTGTGTTTCTGCAAGCATGTGTGCACTGAATAACCTAATTTTAATTGTATATTACTTTATAGCTTGGGTTGTTCAAACACTAGATAAATCTACTTATATTTTGCTATTTAATTTGTCCAGTTTGAAAGGAGTACAATAAAATTTCCATTTGCAAATGTCCAAATTTCCATTTTTCATCTGGAAATTTGCAATTTCCAAAATGCAATTATAATAAGAAATAATTGCATATTTAAATAAATCTCTCTTTGGATTTTTAGTAGGTCTTCAGACATTATAATATTTAATAAATGGTGCTGGCACGATTTGCTCTCCATTCTAGACAAAAACAAAGCCAGACTCAGCCCATATGCAGCAATTAATTGCATATGAATTAAATATGTAAATGTAAAAATAAAAGCACTAGAAGAAGTCTCAGAAGAATTTAGCTCTAGCGATCTTTCCAAGCAAGCCTACAGAAGTCAAGAATCCATAAAGACACTTTCTGCCACATAAAATTATTAACTATTTATATGACAAAAAGTTGCAAAGTCGAAAGGCAAATGTCAATGGGTATAATGGCAAAGGTTTCCAGAAAAAATCCCCTTGTGAGCCTAGGCCCTTCCTTTATAGCCCATATTGCAATGAGACTTTCTCTCCTTCATCACATTTAATTGTTTGGAAACAATTTGAATTGTTTCTTAAATTAGTTGAAACTTGTAAGACTTACATATATATATATATAGCAGGCTTGTATACCAGCAGTCCCCAACCTTCTTGGCCCCAGGGACTGGTTTCATGGAAGATAATTCTTCCATGAACTTGCGGCCAGTAGGGGGATAGTTTGGGGATGATTCGAGCACATTACATTTATTATGCACTTTATTTCTATTATTATTACATTGTAATATATAACAACATAATTATATAACTCATCATAATGTAGAATCAGTGGGAGGCCTGAGCTTGTTTTCCTACAACTAGGTGGTCCCATCTGGGGGTGATGGGAGACAGTGACAAATCATCAGGCATTAGATTCTTATAAGAAGCATACAACCAAGATCCCTTGCATGCACAGTTCACAATGGGGTTCGCACTCCTATGAGAATCTAGTGGCACCACTGATGTGACACTAGGCGGAGCTCAGGCAGTAATGCTCACTTGTCCACCACTCACCTCGCACTGTGCAGCTCAGTACCTAACAGGTCACAGACCAGTACCAGTCCGCAGCCCGGGGATCGGGGACCCCTGTTGTATACCTTGATTAGCAACAGTTTGTACTTATGTATACATGTTGTGTTTGAAACTTAAGACAGGGGTTACCCTTTACCAGATCATTTCAAAGAACCAGTGGGTGAACTGGGCCTGGGCAGTCCTGCCTCTGAAGGCCCAGCAGTCTCCGAAGAATCCCATGCAACTTACAATTAGAAAAGCTAACAAAAGTCAGGGTCCCAGAGCCCATCTCAAGAGCTGAGAGGGACAACCTAACACACACCAAGTTCTTGCTGATGACTTATGTACCAGCTGAGAATTGCTGGAATAATTAATAAGGGGGAATAAATAGATTCTTTGGAATATACAGACTCTGAGAATCACATTCAAGGCCCTTTCCACTGTTAGCATGGTGAGAAGTTGTAACACTTTACTCCGTGTACAGTTAGGGATCCTCTCCTTTCCGCTCCATTATGACTAGGAATAAGAAAGATGGCATAGAAGCCTGCTGTGTTTTTTGTACTCAGGCTTGTGAGTCTAGTTTCTACATATAAAAGTCACTCACAGGAAAAAATAGAATCTGTTCTTAGACATTGGAAATAGACAGTGCATCTTCAATCAAACTAACAGAACTAGTAAAACACTGACAATTCAAATGACAGACAAATGTTGACTCTCCCAAAATCAAAAAAGGGCCTATAGATCAGAAAGGAGAAGACAAGGTAACAGAAAAATGTGCAAAGTCTATAACAAGCAAGCTACAGAACAGAAAAATACAAATGACCAATAGGTATATTAAAAGATTCTCACCTTACTACTGATCAAGAAAACACAAATAAAGCAACAATATGTTCCCATTTTCCCCCCTCAAAACTGGAATAAATTAAAAGAGTCATGGGATCTAGTGCTGGAGAAAATTTCGATGGGCATTGTTGTACATTGTTGGTATGAGTGTAAATTAGTACAACATCCTTGCAAAATATTCTGGCAATACCCATTATATGTTAGAATATATAGATGTTTGTCCCCACAATCTCACACTGAGAGATCTAATCTATAAAAATAAAAGCATCAATGAGATTAGAGTTACAGTGTCATTAATTACAGCATCATCTTTTACAAACATCTTGGAAACAACCTGAGTGTTATTAATTAGGGGACTGCTTAAATCAAGCGTGATTCAGTTGTACTGGGGAATACTATTCAGGCATTAAAAAGAAAGAGCCAGATCTGTATCTATTGGCCCACAAGATTTTCCAACAATAGTTCTTTAATAATAATAATTAAGTAGAAAAAATACTAAATAGAATAAAATAGAGAAAGAAAAGACAAATATATAACAAAGGTCTAATAACTAGCATATATAAGGAATTTAAACAAATTTCAAGAAAAAAAAACCCATTAAAAAGTGGGCAAAGGACACGAACATCTACCTTTCAAGTGAAGACATACACGTAGCCAACAAACATATGAAAAAAAAAGCTTGATATCACTGATCATTAAAGAAATGCAAATCAAAACCACAATGAGATACCATCTCACACCAGTCAAAACGGCTATTATTAAAAAGTCAAAAAATAACAGATGCTGGCGAGGTTGTGGAGAAAAGGAACACTTATATACTGTTGGTGGGAGTGTAAATTAGCTCAACCATTGTGGAAAGCAGTATGGCAATCCCTCAAAGAGCTAAAAATGGAAATACCATTCGACCCAACAATCCCAATACTGGGTATATACCCAGAGGAATAGAAATCATTCTACCATAAACACACATGCACGTGAATGTTCACTGAAATGCTATTCACAATAGCAAAGACCTGGAATCAACCTGAACACCCATCAGTGACTGACTGGATAAAGAAAATTTGGTACATATGCACCATGGAATACTATGTAGCCATTAAAAAGAATGAGATCATGTCTTTTGCAGGAAGATGGATGGAGCTGGAGACAATTATCCTTAGCAAACTAACACAGGAATAGAGAAACAAATACCACATGTTCTCACTTATAAATGGGAGCTAAATGATGAGAATTCACAAATGCAAAGAAGGGAACAACAGACACAGGGTCTACTTGAGGATTGAGGGTGGGAAGAGGGAGAGGAGCAGAAAAAAAAAAACTATTGGTTACTACGTACCTAGGTACCTAGGGTGATGAAATAGTCTGTATAACAAACTCCCATTACACAAATTTACCTATATAATAAACATCCACATGTACCCCTGAACCTAAAATAAAAGCTAAAGAGAAAAGGAAAGAAAAGACACATATATAACATTTAGAAAAATAAAGGAGCTATAACAATATAGGAAGAAGAATAAGCTTATGAGTATACTATATGCATGTATGTGTACACATATACAAAATAGTAAGCACACATATACACTACTTGAAAACCTGATTACTACAAAAGTTTAAACATACAGCTTCATTCTTTTCAGTGGTAGAAAACCTGAATAAACAAATATATATGCAAGTACCTGAAAAAAAGTTGTTCAATATAACTC	T15164094A	PMP22	NC_000017.11:g.15133096_15164093dup	noncoding	Pathogenic
17	15230965	CA	C	A15230966G	PMP22	NM_000304.4(PMP22):c.434del:p.Leu145fs	coding	Pathogenic
17	15230966	AG	A	G15230971A	PMP22	NM_000304.4(PMP22):c.433del:p.Leu145fs	coding	Pathogenic
17	15231064	AC	A	C15231065T	PMP22	NM_000304.4(PMP22):c.335del:p.Ser112fs	coding	Pathogenic
17	15239508	G	GC	T15239515C	PMP22	NM_000304.4(PMP22):c.281dup:p.Arg95fs	coding	Pathogenic/Likely_pathogenic
17	15239509	CC	A	C15239509A	PMP22	NM_000304.4(PMP22):c.280_281delinsT:p.Gly94fs	coding	Pathogenic
17	15239527	AAG	A	A15239530T	PMP22	NM_000304.4(PMP22):c.259_260CT[1]:p.Phe88fs	coding	Pathogenic
17	15239550	CAG	C	G15239554C	PMP22	NM_000304.4(PMP22):c.236_237CT[1]:p.Leu80fs	coding	Pathogenic
17	15259133	AG	A	G15259135A	PMP22	NM_000304.4(PMP22):c.138del:p.Ser47fs	coding	Pathogenic/Likely_pathogenic
17	15260651	CT	C	T15260652G	PMP22	NM_000304.4(PMP22):c.76del:p.Ser26fs	coding	Pathogenic
17	15260659	CG	C	G15260660T	PMP22	NM_000304.4(PMP22):c.68del:p.Thr23fs	coding	Pathogenic
17	15260672	AGCAG	CACGATCGC	A15260672C	PMP22	NM_000304.4(PMP22):c.52_56delinsGCGATCGTG:p.Leu18fs	coding	Pathogenic
17	15594897	GAAAAGATA	G	A15594898C	CDRT1	NM_006382.4(CDRT1):c.1705-15_1705-8del	noncoding	Benign
17	16006489	TGCTG	T	G16006493A	TTC19	NM_017775.4(TTC19):c.601_604del:p.Gly201fs	coding	Pathogenic
17	16027482	CAAAGA	C	A16027487T	TTC19	NM_017775.4(TTC19):c.1108_1112del:p.Lys369_Lys370insTer	coding	Benign
17	16234008	AC	A	C16234009T	PIGL	NM_004278.4(PIGL):c.274del:p.Leu92fs	coding	Pathogenic
17	16940375	GG	TT	G16940375T	TNFRSF13B	NM_012452.2(TNFRSF13B):c.581_582delCCinsAA:p.Ser194Ter	coding	Pathogenic
17	16940384	A	AT	C16940386T	TNFRSF13B	NM_012452.2(TNFRSF13B):c.572dup:p.Asp191fs	coding	Pathogenic
17	16940391	CTCT	C	C16940396G	TNFRSF13B	NM_012452.3(TNFRSF13B):c.560_562AGA[1]:p.Lys188del	coding	Benign
17	16948951	ACTTGC	A	C16948957T	TNFRSF13B	NM_012452.3(TNFRSF13B):c.222_226GCAAG[1]:p.Gly76fs	coding	Pathogenic
17	16952548	A	ATC	A16952553T	TNFRSF13B	NM_012452.2(TNFRSF13B):c.95_96dupGA	coding	Pathogenic
17	16972026	TG	T	G16972028T	TNFRSF13B	NM_012452.2(TNFRSF13B):c.49del:p.Gln17fs	coding	Pathogenic/Likely_pathogenic
17	17212472	C	CT	A17212476T	FLCN	NM_144997.7(FLCN):c.*1182dup	noncoding	Benign
17	17213793	CT	C	T17213795C	FLCN	NM_144997.7(FLCN):c.1601del:p.Lys534fs	coding	Pathogenic
17	17214984	CTTCATCCACTCCTCCTTGAGGCAGACGAGGCACTGGTCCACCACATCCACAGACAGGTTCTGGTTGGTCAGAGCCGCTTCAATCTTATTCAGGATGGTGGGGCCCACTGGGGAGAAGGGCAGGGGCAGAGCAAGGGCAGGCGTTAGCGCGGGGCGGGGGCATCTTCTCACAAAAAGGACACTCTGCCTGGGGGCACCCACCTCGGTCTGCAGCTACAGGGCTCCCACTGGTCACCACAAACTCGTACTTGCTGAGAGACTGGTCATCCTCACACCCCACAGGGTGGAGGGTGGAACGTGCGGCTGCGTGGACCTCCACGATGACAGCAAACTCTGTAACAACACAAGGCCCGTGGCTCCTCATCTCCCCCATGCTCCTCACCTCCCCTGCGCTAGCCCACCGTGGGCCCCACTCCGCTCATCCCAGGTCAGTGGGGAAGGCTGCTGGTGAAAAGACTGGCCCAAATCAATGCTTTGGTATTTAAAACCTTTCAGGTTATTCGTGAATAGTTAAGGGTTAACTTTTGCCTCAGTTAAACTAATAATTTATTATATTACAATAATCACAAAGTACTTTATATACATCAATTTACCTCTGGCTAAGCAGCCCTATGAGGGTGGTCTCACCATGACCCTATTCTACAGATGGGGAAACAGGCCTGGAGACGTTAAATAACCTGCTCGTAGTGGTAAGAATTTGAAGTCTGTTTGAAACCAGAGCCTGTGTTTCCAATGCTACCCGGAAAAAAGGCACTGCCTCGCAGGGAGTCAGGACCCAGCCTGGGTGCTGATTGGGGGCTCAGGGTAGCTCCACTCGGACCATGAGTCAGCAGCTGCTGGTCACCGCTGTGCTGGGGGAAGTCACTGATGAGCCTGGGGGGCTGATCCCTGGACATCCCCAAACCAAAAGACCAGGGGTTTGCTGAGCCCTGACCACACCAGTGAAGGCCGGGAAGACCTCGGGCACATGAGGTGAAGAAAAAGGCTGGAGGAGAGCAGAAGTCAGGACAGGGGAACAGTAGAAGAGTGAGGAGAGGATGGCAGGGCCCACAGAAGCAGGCAGCTCACACCCAGCATTCAGCAGGCCTCCATCTCATAGGCACCCAATCACCAGGACGACCAGGATCCTCCGGCCAGGGACACATCCTCCCACCCCACGATGGTGACCTGCAGCCCACTGACGACAGTCCCTGCCAGCCAACCTTCCCATCAGGTCCACTCACCCACCGCTACCTGTGTGAAGATAGAACACGGAGGCCCAGAGCCATGGGGGAAGCTGGCCCTGCAATGAGGCCTCCTCTCCACAACCCATGACAGAGATCTGGTTCCACTTTGGGCCTGAGGCGTGGGGAACCTCAGCGCAGGGCATGGCCCCACAGCCCGCGGGGGCACGCACCTGAGGAGAGCACGTGGGGGGGGATCTGCACGTGCGGGCTGAGCCCCAGGAAGTTGCACCGATAGGCCTCCTCGTACTGGCTGCTGTATGGGATGATGCGGACGCAGCCCACGGGAAGCATGGTCTGAGGAGGACAGCAGGACTCAGACCAAGGACACGAGGAAGCCCTCAGCCCCGGCCATCCATGCTCTACTACCCAAACCCCACACGCCTCCTGCAGCCCGGTCCAAGCCCTCCCTCCTGCCAGAGGAGTCCCCAGACTCTCAGCCCACAGTGGGGGTGAGGGGGGAGGG	C	T17214986C	FLCN	NM_144997.7(FLCN):c.1177-169_1538del	coding	Pathogenic
17	17214986	TCATC	T	T17214989C	FLCN	NM_144997.7(FLCN):c.1533_1536del:p.Glu510_Trp511insTer	coding	Pathogenic
17	17214992	ACTC	A	C17214998T	FLCN	NM_144997.7(FLCN):c.1525_1527GAG[1]:p.Glu510del	coding	Pathogenic/Likely_pathogenic
17	17214994	TC	T	C17214996T	FLCN	NM_144997.7(FLCN):c.1528del:p.Glu510fs	coding	Pathogenic
17	17214998	CCTT	C	C17214999G	FLCN	NM_144997.7(FLCN):c.1522_1524del:p.Lys508del	coding	Pathogenic/Likely_pathogenic
17	17215032	C	CACAG	G17215041A	FLCN	NM_144997.7(FLCN):c.1483_1486CTGT[3]:p.Asp498fs	coding	Pathogenic
17	17215064	C	CAATCTTAT	T17215073A	FLCN	NM_144997.7(FLCN):c.1451_1458dup:p.Glu487fs	coding	Pathogenic
17	17215071	AT	A	T17215073C	FLCN	NM_144997.7(FLCN):c.1451del:p.Asn484fs	coding	Pathogenic
17	17215082	TG	T	G17215086C	FLCN	NM_144997.7(FLCN):c.1440del:p.Thr481fs	coding	Pathogenic
17	17215190	T	TC	T17215192C	FLCN	NM_144997.7(FLCN):c.1426dup:p.Asp476fs	coding	Pathogenic
17	17215219	CA	C	A17215220C	FLCN	NM_144997.7(FLCN):c.1397del:p.Val466fs	coding	Pathogenic
17	17215236	TGA	T	G17215241C	FLCN	NM_144997.7(FLCN):c.1375_1376TC[2]:p.Leu460fs	coding	Pathogenic
17	17215242	ACTGGTCATCCTCACACC	A	T17215244C	FLCN	NM_144997.7(FLCN):c.1358_1374del:p.Gly453fs	coding	Pathogenic
17	17215253	TCACACCC	T	C17215258G	FLCN	NM_144997.7(FLCN):c.1357_1363del:p.Gly453fs	coding	Pathogenic
17	17215257	AC	A	C17215261A	FLCN	NM_144997.7(FLCN):c.1359del:p.Cys454fs	coding	Pathogenic
17	17215264	AG	A	G17215267T	FLCN	NM_144997.7(FLCN):c.1352del:p.Pro451fs	coding	Pathogenic
17	17215282	T	TGCGGCTGCGTGGACCTC	C17215300G	FLCN	NM_144997.7(FLCN):c.1318_1334dup:p.Leu449fs	coding	Pathogenic
17	17215284	C	CGGCT	C17215290G	FLCN	NM_144997.7(FLCN):c.1329_1332dup:p.Ala445fs	coding	Pathogenic
17	17215290	CG	C	G17215291T	FLCN	NM_144997.7(FLCN):c.1326del:p.His442fs	coding	Pathogenic
17	17215298	TC	T	C17215300A	FLCN	NM_144997.7(FLCN):c.1318del:p.Glu440fs	coding	Pathogenic
17	17215311	CA	C	A17215314C	FLCN	NM_144997.7(FLCN):c.1305del:p.Phe435fs	coding	Pathogenic
17	17215313	A	AAC	T17215316A	FLCN	NM_144997.7(FLCN):c.1302_1303dup:p.Phe435fs	coding	Pathogenic
17	17216392	C	CGT	G17216396T	FLCN	NM_144997.7(FLCN):c.1286_1287dup:p.Val430fs	coding	Pathogenic
17	17216393	G	GT	G17216395T	FLCN	NM_144997.7(FLCN):c.1286dup:p.His429fs	coding	Pathogenic
17	17216394	TG	T	G17216402A	FLCN	NM_144997.7(FLCN):c.1285del:p.His429fs	coding	Pathogenic
17	17216394	T	TC	G17216395C	FLCN	NM_144997.7(FLCN):c.1285_1286insG:p.His429fs	coding	Pathogenic
17	17216394	T	TG	A17216403G	FLCN	NM_144997.7(FLCN):c.1285dup:p.His429fs	coding	Pathogenic
17	17216427	AG	A	G17216429A	FLCN	NM_144997.7(FLCN):c.1252del:p.Leu418fs	coding	Pathogenic
17	17216460	CT	C	T17216461G	FLCN	NM_144997.7(FLCN):c.1219del:p.Ser407fs	coding	Pathogenic
17	17216466	T	TA	T17216468A	FLCN	NM_144997.7(FLCN):c.1213dup:p.Tyr405fs	coding	Pathogenic
17	17216476	T	TG	C17216478G	FLCN	NM_144997.7(FLCN):c.1203dup:p.Ile402fs	coding	Pathogenic
17	17216491	CG	C	G17216494A	FLCN	NM_144997.7(FLCN):c.1188del:p.Val397fs	coding	Pathogenic
17	17216500	TG	T	G17216502T	FLCN	NM_144997.7(FLCN):c.1179del:p.Met394fs	coding	Pathogenic
17	17217069	CCGAAGTACTTCAAAAGCTGA	C	G17217071T	FLCN	NM_144997.7(FLCN):c.1156_1175del:p.Ser386fs	coding	Pathogenic
17	17217091	TG	T	G17217093A	FLCN	NM_144997.7(FLCN):c.1153del:p.Gln385fs	coding	Pathogenic
17	17217105	GTCTCTGCTTTTCCAGA	G	T17217108A	FLCN	NM_144997.7(FLCN):c.1124_1139del:p.Ile375fs	coding	Pathogenic
17	17217142	A	ACGTGC	A17217149G	FLCN	NM_144997.7(FLCN):c.1098_1102dup:p.Val368fs	coding	Pathogenic
17	17219025	CAT	C	A17219026G	FLCN	NM_144997.7(FLCN):c.1054_1055del:p.Met352fs	coding	Pathogenic
17	17219037	GGACTTGAA	G	T17219042G	FLCN	NM_144997.7(FLCN):c.1036_1043del:p.Phe346fs	coding	Pathogenic
17	17219059	CG	C	G17219063C	FLCN	NM_144997.7(FLCN):c.1021del:p.Arg341fs	coding	Pathogenic
17	17219066	GC	G	C17219068A	FLCN	NM_144997.7(FLCN):c.1014del:p.Trp338fs	coding	Pathogenic
17	17219082	TGA	T	A17219090G	FLCN	NM_144997.7(FLCN):c.991_992TC[3]:p.Ser333fs	coding	Pathogenic
17	17219093	AG	A	G17219095A	FLCN	NM_144997.7(FLCN):c.987del:p.Ser330fs	coding	Pathogenic
17	17219101	G	GC	G17219104C	FLCN	NM_144997.7(FLCN):c.979dup:p.Ala327fs	coding	Pathogenic
17	17219125	C	CCTTTCTGTACTCTCTGGCAACACAGGGG	C17219129T	FLCN	NM_144997.7(FLCN):c.955_956insCCCCTGTGTTGCCAGAGAGTACAGAAAG:p.Gly319fs	coding	Pathogenic
17	17219126	C	CTTCTGTACTCTCTGGCAACACAGGGGCT	C17219159G	FLCN	NM_144997.7(FLCN):c.927_954dup:p.Gly319fs	coding	Pathogenic
17	17219133	ACT	A	C17219138G	FLCN	NM_144997.7(FLCN):c.942_943AG[2]:p.Ser316fs	coding	Pathogenic
17	17219147	CAG	C	A17219148G	FLCN	NM_144997.7(FLCN):c.932_933del:p.Pro311fs	coding	Pathogenic
17	17219153	C	CT	C17219157T	FLCN	NM_144997.7(FLCN):c.927dup:p.Ala310fs	coding	Pathogenic
17	17219167	TC	T	C17219168A	FLCN	NM_144997.7(FLCN):c.913del:p.Glu305fs	coding	Pathogenic
17	17219187	GCTTT	G	T17219190G	FLCN	NM_144997.7(FLCN):c.890_893del:p.Glu297fs	coding	Pathogenic
17	17219190	TTC	T	C17219192G	FLCN	NM_144997.7(FLCN):c.889_890del:p.Glu297fs	coding	Pathogenic
17	17221556	GA	G	A17221557C	FLCN	NM_144997.7(FLCN):c.851del:p.Val284fs	coding	Pathogenic
17	17221578	G	GCA	C17221582A	FLCN	NM_144997.7(FLCN):c.828_829dup:p.Ala277fs	coding	Pathogenic
17	17221580	A	TCT	A17221580T	FLCN	NM_144997.7(FLCN):c.828delinsAGA:p.Ala277fs	coding	Pathogenic
17	17221599	G	GT	C17221601T	FLCN	NM_144997.7(FLCN):c.808dup:p.Thr270fs	coding	Pathogenic
17	17221603	GC	G	C17221605G	FLCN	NM_144997.7(FLCN):c.804del:p.Arg268_Leu269insTer	coding	Pathogenic
17	17222519	AGGCACGCCCACAGGTTGTCATC	CTCGCTG	A17222519C	FLCN	NM_144997.7(FLCN):c.739_761delinsCAGCGAG:p.Asp247fs	coding	Pathogenic
17	17222541	CACTT	C	A17222542G	FLCN	NM_144997.7(FLCN):c.735_738del:p.Ser246fs	coding	Pathogenic
17	17222571	CG	C	G17222572T	FLCN	NM_144997.7(FLCN):c.708del:p.Asn236fs	coding	Pathogenic
17	17222647	CT	G	C17222647G	FLCN	NM_144997.7(FLCN):c.632_633delinsC:p.Glu211fs	coding	Pathogenic
17	17223929	GC	TA	G17223929T	FLCN	NM_144997.7(FLCN):c.610_611delinsTA:p.Ala204Ter	coding	Pathogenic
17	17223932	TTGCCC	T	C17223935G	FLCN	NM_144997.7(FLCN):c.603_607del:p.Lys203fs	coding	Pathogenic
17	17223953	ATTCCCCGGACC	A	G17223960A	FLCN	NM_144997.7(FLCN):c.576_586del:p.Lys192fs	coding	Pathogenic
17	17223955	TC	T	C17223959G	FLCN	NM_144997.7(FLCN):c.584del:p.Gly195fs	coding	Pathogenic
17	17223976	GA	G	A17223978G	FLCN	NM_144997.7(FLCN):c.563del:p.Phe188fs	coding	Pathogenic
17	17224004	CGGTCCATCATGAT	C	C17224008G	FLCN	NM_144997.7(FLCN):c.523_535del:p.Ile175fs	coding	Pathogenic
17	17224012	CATGATGG	C	A17224013T	FLCN	NM_144997.7(FLCN):c.521_527del:p.Thr174fs	coding	Pathogenic
17	17224022	ATGATGCTGTACCAGC	CTGAT	A17224022C	FLCN	NM_144997.7(FLCN):c.503_518delinsATCAG:p.Arg168fs	coding	Pathogenic
17	17224049	CT	C	T17224050G	FLCN	NM_144997.7(FLCN):c.490del:p.Arg164fs	coding	Pathogenic
17	17224068	TGAA	T	A17224073G	FLCN	NM_144997.7(FLCN):c.466_468TTC[1]:p.Phe157del	coding	Pathogenic/Likely_pathogenic
17	17224086	AC	A	C17224087A	FLCN	NM_144997.7(FLCN):c.453del:p.Phe152fs	coding	Pathogenic
17	17224106	TC	T	C17224107T	FLCN	NM_144997.7(FLCN):c.433del:p.Asp145fs	coding	Pathogenic
17	17224119	T	TG	C17224124G	FLCN	NM_144997.7(FLCN):c.420dup:p.Ile141fs	coding	Pathogenic
17	17224135	AG	A	G17224138C	FLCN	NM_144997.7(FLCN):c.404del:p.Pro135fs	coding	Pathogenic
17	17226199	AGGCCTGGC	A	C17226202A	FLCN	NM_144997.7(FLCN):c.365_372del:p.Arg122fs	coding	Pathogenic
17	17226224	C	CT	G17226226T	FLCN	NM_144997.7(FLCN):c.347dup:p.Leu117fs	coding	Pathogenic
17	17226252	AC	GTG	A17226252G	FLCN	NM_144997.7(FLCN):c.319_320delinsCAC:p.Val107fs	coding	Pathogenic
17	17226259	TA	T	A17226261T	FLCN	NM_144997.7(FLCN):c.312del:p.Lys105fs	coding	Pathogenic
17	17226275	AT	A	T17226276C	FLCN	NM_144997.7(FLCN):c.296del:p.Asp99fs	coding	Pathogenic
17	17226298	GC	G	C17226301T	FLCN	NM_144997.7(FLCN):c.273del:p.His92fs	coding	Pathogenic
17	17227895	CAT	C	A17227896G	FLCN	NM_144997.7(FLCN):c.241_242del:p.Met81fs	coding	Pathogenic
17	17227897	T	TGTCC	A17227903T	FLCN	NM_144997.7(FLCN):c.237_240dup:p.Met81fs	coding	Pathogenic
17	17227898	GT	G	T17227899C	FLCN	NM_144997.7(FLCN):c.239del:p.Asp80fs	coding	Pathogenic
17	17227899	TCCGA	T	C17227901T	FLCN	NM_144997.7(FLCN):c.235_238del:p.Ser79fs	coding	Pathogenic
17	17227904	CT	C	T17227909G	FLCN	NM_144997.7(FLCN):c.233del:p.Lys78fs	coding	Pathogenic
17	17227909	TG	T	G17227912C	FLCN	NM_144997.7(FLCN):c.228del:p.Lys78fs	coding	Pathogenic
17	17227923	CT	C	T17227924G	FLCN	NM_144997.7(FLCN):c.214del:p.Ser72fs	coding	Pathogenic
17	17227935	CT	C	T17227936G	FLCN	NM_144997.7(FLCN):c.202del:p.Ser68fs	coding	Pathogenic
17	17227938	GC	G	C17227943T	FLCN	NM_144997.7(FLCN):c.199del:p.Ala67fs	coding	Pathogenic
17	17227948	CG	C	G17227952C	FLCN	NM_144997.7(FLCN):c.189del:p.Ala64fs	coding	Pathogenic
17	17227966	T	TC	G17227969C	FLCN	NM_144997.7(FLCN):c.171dup:p.Met58fs	coding	Pathogenic
17	17227970	AC	A	C17227971T	FLCN	NM_144997.7(FLCN):c.167del:p.Ser56fs	coding	Pathogenic
17	17227979	CT	C	T17227980G	FLCN	NM_144997.7(FLCN):c.158del:p.Gln53fs	coding	Pathogenic
17	17228024	AC	A	C17228025T	FLCN	NM_144997.7(FLCN):c.113del:p.Ser38fs	coding	Pathogenic
17	17228054	T	TG	C17228059G	FLCN	NM_144997.7(FLCN):c.83dup:p.Leu29fs	coding	Pathogenic
17	17228078	GA	G	A17228080G	FLCN	NM_144997.7(FLCN):c.59del:p.Phe20fs	coding	Pathogenic
17	17228088	C	CG	C17228094G	FLCN	NM_144997.7(FLCN):c.49dup:p.Arg17fs	coding	Pathogenic
17	17228088	CG	C	G17228093C	FLCN	NM_144997.7(FLCN):c.49del:p.Arg17fs	coding	Pathogenic
17	17228093	G	GC	G17228096C	FLCN	NM_144997.7(FLCN):c.44dup:p.Arg17fs	coding	Pathogenic
17	17228116	AGAGAG	A	G17228117C	FLCN	NM_144997.7(FLCN):c.17_21del:p.Ala6fs	coding	Pathogenic
17	17228134	TC	T	C17228135A	FLCN	NM_144997.7(FLCN):c.3del:p.Met1fs	coding	Pathogenic
17	17793127	AGGGT	A	G17793130C	RAI1	NM_030665.4(RAI1):c.182_185del:p.Gly61fs	coding	Pathogenic
17	17793309	TG	T	G17793315C	RAI1	NM_030665.4(RAI1):c.367del:p.Ala123fs	coding	Pathogenic
17	17793310	G	GT	G17793311T	RAI1	NM_030665.4(RAI1):c.362_363insT:p.Trp121fs	coding	Pathogenic
17	17793356	AG	A	G17793360T	RAI1	NM_030665.4(RAI1):c.412del:p.Val138fs	coding	Pathogenic
17	17793521	G	TACCCC	G17793521T	RAI1	NM_030665.4(RAI1):c.573delinsTACCCC:p.Gln191fs	coding	Pathogenic
17	17793779	CCAGCAGCAGCAG	C	G17793809A	RAI1	NM_030665.4(RAI1):c.834_836GCA[9]:p.Gln288_Gln291del	coding	Benign/Likely_benign
17	17793779	CCAGCAGCAG	C	G17793812A	RAI1	NM_030665.4(RAI1):c.834_836GCA[10]:p.Gln289_Gln291del	coding	Benign/Likely_benign
17	17793779	CCAGCAG	C	G17793815A	RAI1	NM_030665.4(RAI1):c.834_836GCA[11]:p.Gln290_Gln291del	coding	Benign
17	17793779	CCAG	C	G17793818A	RAI1	NM_030665.4(RAI1):c.834_836GCA[12]:p.Gln291del	coding	Benign
17	17793779	C	CCAG	A17793821G	RAI1	NM_030665.4(RAI1):c.834_836GCA[14]:p.Gln291dup	coding	Benign/Likely_benign
17	17793784	AGC	A	G17793785A	RAI1	NM_030665.4(RAI1):c.837_838del:p.Gln280fs	coding	Benign
17	17793787	AG	A	G17793788C	RAI1	NM_030665.4(RAI1):c.840del:p.Gln280fs	coding	Benign
17	17793787	AGCAG	A	G17793788C	RAI1	NM_030665.4(RAI1):c.840_843del:p.Gln280fs	coding	Benign
17	17794017	A	AC	G17794018C	RAI1	NM_030665.4(RAI1):c.1069_1070insC:p.Ser357fs	coding	Pathogenic
17	17794061	C	CT	A17794063T	RAI1	NM_030665.4(RAI1):c.1114dup:p.Tyr372fs	coding	Pathogenic
17	17794344	AAGAACCTCGTGTCC	A	A17794347G	RAI1	NM_030665.4(RAI1):c.1399_1412del:p.Asn467fs	coding	Pathogenic
17	17794437	CT	C	T17794438G	RAI1	NM_030665.4(RAI1):c.1490del:p.Leu497fs	coding	Pathogenic
17	17794616	TTC	T	C17794618G	RAI1	NM_030665.4(RAI1):c.1670_1671del:p.Ser557fs	coding	Pathogenic
17	17794637	CAT	C	A17794638G	RAI1	NM_030665.4(RAI1):c.1690_1691del:p.Met564fs	coding	Pathogenic
17	17795179	TTGCC	T	C17795182G	RAI1	NM_030665.4(RAI1):c.2234_2237del:p.Ala745fs	coding	Pathogenic
17	17795277	GATGGC	G	G17795280C	RAI1	NM_030665.4(RAI1):c.2332_2336del:p.Gly778fs	coding	Pathogenic
17	17795417	T	TG	C17795421G	RAI1	NM_030665.4(RAI1):c.2472dup:p.Leu825fs	coding	Pathogenic
17	17795484	TC	T	C17795486A	RAI1	NM_030665.4(RAI1):c.2538del:p.Thr847fs	coding	Pathogenic
17	17795748	A	AC	G17795751C	RAI1	NM_030665.4(RAI1):c.2802dup:p.Glu935fs	coding	Pathogenic
17	17795908	CAAAG	C	A17795914G	RAI1	NM_030665.4(RAI1):c.2962_2965AAGA[1]:p.Lys989fs	coding	Pathogenic
17	17796041	AG	A	G17796044C	RAI1	NM_030665.4(RAI1):c.3096del:p.Gln1035fs	coding	Pathogenic
17	17796065	AG	A	G17796069C	RAI1	NM_030665.4(RAI1):c.3121del:p.Ala1041fs	coding	Pathogenic
17	17796090	GCC	CT	G17796090C	RAI1	NM_030665.4(RAI1):c.3142_3144delinsCT:p.Ala1048fs	coding	Pathogenic
17	17796135	CTGAG	C	T17796140C	RAI1	NM_030665.4(RAI1):c.3188_3191TGAG[1]:p.Glu1065fs	coding	Pathogenic
17	17796336	GAGAC	G	A17796341T	RAI1	NM_030665.4(RAI1):c.3389_3392AGAC[1]:p.Asp1132fs	coding	Pathogenic
17	17796627	GC	G	C17796629T	RAI1	NM_030665.4(RAI1):c.3681del:p.Phe1228fs	coding	Pathogenic
17	17796678	CGCAGCAGCA	C	G17796688A	RAI1	NM_030665.4(RAI1):c.3731_3733GCA[3]:p.Ser1247_Ser1249del	coding	Benign
17	17796744	TC	T	C17796749A	RAI1	NM_030665.4(RAI1):c.3801del:p.Thr1268fs	coding	Pathogenic
17	17797376	TC	T	C17797380G	RAI1	NM_030665.4(RAI1):c.4432del:p.Arg1478fs	coding	Pathogenic
17	17797402	AAG	A	A17797403G	RAI1	NM_030665.4(RAI1):c.4455_4456del:p.Ala1487fs	coding	Pathogenic
17	17797619	C	CA	G17797622A	RAI1	NM_030665.4(RAI1):c.4673dup:p.Arg1559fs	coding	Pathogenic
17	17797761	GA	G	A17797762C	RAI1	NM_030665.4(RAI1):c.4814del:p.Asp1605fs	coding	Pathogenic
17	17797830	TC	T	C17797832T	RAI1	NM_030665.4(RAI1):c.4884del:p.Ser1629fs	coding	Pathogenic
17	17798129	CA	C	A17798130C	RAI1	NM_030665.4(RAI1):c.5182del:p.Thr1728fs	coding	Pathogenic
17	17817277	CGTT	C	T17817279C	SREBF1	NM_001005291.3(SREBF1):c.1672_1674del:p.Asn558del	coding	Pathogenic
17	18119205	C	CTAGT	G18119207A	MYO15A	NM_016239.4(MYO15A):c.406_407insAGTT:p.Trp136Ter	coding	Pathogenic
17	18119213	C	CA	G18119220A	MYO15A	NM_016239.3(MYO15A):c.419dup:p.Phe141Valfs	coding	Pathogenic/Likely_pathogenic
17	18119933	TC	T	C18119937T	MYO15A	NM_016239.4(MYO15A):c.1137del:p.Tyr380fs	coding	Pathogenic/Likely_pathogenic
17	18119970	G	GGCCATCT	A18119978G	MYO15A	NM_016239.4(MYO15A):c.1171_1177dup:p.Tyr393fs	coding	Pathogenic
17	18119978	A	AC	G18119986C	MYO15A	NM_016239.4(MYO15A):c.1185dup:p.Glu396fs	coding	Pathogenic
17	18120457	C	CG	C18120462G	MYO15A	NM_016239.4(MYO15A):c.1661dup:p.Leu555fs	coding	Pathogenic
17	18120593	G	GCGGC	C18120599G	MYO15A	NM_016239.4(MYO15A):c.1795_1798dup:p.Pro600fs	coding	Pathogenic
17	18121056	GGC	G	C18121058G	MYO15A	NM_016239.4(MYO15A):c.2258_2259del:p.Ala753fs	coding	Pathogenic
17	18121110	GT	G	T18121111C	MYO15A	NM_016239.4(MYO15A):c.2311del:p.Ser771fs	coding	Pathogenic
17	18121782	TGAGCCGGG	T	A18121784C	MYO15A	NM_016239.4(MYO15A):c.2984_2991del:p.Glu995fs	coding	Pathogenic
17	18121822	AC	A	C18121826T	MYO15A	NM_016239.4(MYO15A):c.3026del:p.Pro1009fs	coding	Pathogenic
17	18121912	G	GTCACTCCCCCCAAGGATA	G18121948A	MYO15A	NM_016239.4(MYO15A):c.3130_3147dup:p.Ile1044_Asp1049dup	coding	Benign/Likely_benign
17	18122105	A	AG	T18122112G	MYO15A	NM_016239.4(MYO15A):c.3311dup:p.Gly1104_Glu1105insTer	coding	Pathogenic
17	18122133	TG	T	G18122136C	MYO15A	NM_016239.4(MYO15A):c.3336del:p.Arg1113fs	coding	Pathogenic
17	18122323	C	CA	G18122325A	MYO15A	NM_016239.4(MYO15A):c.3524dup:p.Ser1176fs	coding	Pathogenic
17	18130817	A	AGTGTGTGTGTGT	C18130872G	MYO15A	NM_016239.4(MYO15A):c.4038+8GT[33]	noncoding	Benign
17	18130817	A	AGTGTGTGTGTGTGT	C18130872G	MYO15A	NM_016239.4(MYO15A):c.4038+8GT[34]	noncoding	Benign
17	18130817	AGTGT	A	G18130868C	MYO15A	NM_016239.4(MYO15A):c.4038+8GT[25]	noncoding	Benign
17	18130817	AGTGTGT	A	G18130866C	MYO15A	NM_016239.4(MYO15A):c.4038+8GT[24]	noncoding	Benign
17	18130817	AGTGTGTGTGTGTGTGTGT	A	G18130854C	MYO15A	NM_016239.4(MYO15A):c.4038+8GT[18]	noncoding	Benign
17	18131253	AC	A	C18131257T	MYO15A	NM_016239.4(MYO15A):c.4057del:p.Leu1353fs	coding	Pathogenic
17	18135798	C	CA	G18135800A	MYO15A	NM_016239.4(MYO15A):c.4571dup:p.Lys1525fs	coding	Pathogenic
17	18135808	TC	T	C18135809A	MYO15A	NM_016239.4(MYO15A):c.4581del:p.Thr1528fs	coding	Pathogenic
17	18140606	G	GCA	T18140612A	MYO15A	NM_016239.4(MYO15A):c.5303_5304AC[3]:p.Val1770fs	coding	Pathogenic
17	18140638	TC	T	C18140640T	MYO15A	NM_016239.4(MYO15A):c.5335del:p.Leu1779fs	coding	Pathogenic
17	18142780	GA	G	A18142781G	MYO15A	NM_016239.4(MYO15A):c.5851del:p.Ser1951fs	coding	Pathogenic
17	18146034	C	CG	C18146039G	MYO15A	NM_016239.4(MYO15A):c.6440dup:p.Trp2148fs	coding	Pathogenic
17	18148936	AG	A	G18148940A	MYO15A	NM_016239.4(MYO15A):c.6944del:p.Gly2315fs	coding	Pathogenic
17	18149261	A	AC	A18149266C	MYO15A	NM_016239.4(MYO15A):c.7006dup:p.Gln2336fs	coding	Pathogenic
17	18149488	TCAGA	T	A18149492T	MYO15A	NM_016239.4(MYO15A):c.7124_7127del:p.Asp2375fs	coding	Pathogenic
17	18149550	CTT	C	T18149552G	MYO15A	NM_016239.4(MYO15A):c.7184_7185del:p.Leu2394_Phe2395insTer	coding	Pathogenic
17	18150440	GC	G	C18150442A	MYO15A	NM_016239.4(MYO15A):c.7226del:p.Pro2409fs	coding	Pathogenic
17	18151485	AGTACCAGCAGCCGTTCCGGGGAGGCCGGCCTGAGGCCCTCAGGTCAGCACTGCCCCTGCCCCCAGCCCGCCAGCCCCCTCACTGTACCTGAGTGTCCATCATGGCCCACCAGCTTACTGGGTTGAAGCGCCCTGCCCAGCTCCTGTTAGGGAGGGAGTTTCTTTATACTGATGAGTCCAGATGAGGCCCTGCTGTTGTCTAGGTTGTGCTGTAGGACTTCAGGCCAGTCTCTGCTTCTCCCTGGATTCTCATTTATAATGATAGGGGGTGGTGGAGGAGGAGGAAGTTTCCTACTGTCAAACTATGTGATGGGAAAGGGAGACTCAGTGTCAACCCACCACAGTACTCCAATGCCCACAGGAAGGATGGCGGGAAAGTGTTCATGAAGCGGCCAGACCCTCATGAGGAGGCCCTGATGATCCTGAAAGGGCAGATGACCCACCTGGCAGCTGCACCTGGCACCCAGGTGAGGGGGGAAGGTGGGGCTGAGCCCAGGTGGAACAGAAGACAAAGAGGGGCCTCAGGGATCCTCAGAAACCAGCTACCCCTATAAGCTGTGGCCCTGCCACTGCCCCTCCACAGGGCCTGCCTGTTGCCCCCTGAGCAGTCTCTTTGGGGTGGGACAGGTGTCCAGAGAGGCCGTGGCCCTGGTGAAGCCGGTGACCAGTGCACCAAGGCCATCCATGGCACCCACTTCAGGTGAGAGGGCCAGGAGGGAGGGAGGGGAGGGTGTCCAAGTATATGAGGAAGTCTGTGGGCACAGGTGAGTGTGTCGGTGGAGTGTGTGTGTCTATGTCCCTGAGCCCCTGTGTACATCTTGTGAGCACATTGGTGTAATTATAATGTCAATACTTAAGTAGCACAGATCTCAGGCCAGGCCCATCCTGGCCTCATGTAATCCTACCAGAACCCTTCAAGGTAGCACTGTTGTTCCTACATGTTGCAGATGGGGAAATGGAGGCACAGATAGGTTAACTGGCTTGCCTAAGGTCACACAGCTCAAAAGTGTCAGACCAGGGATATCAGCTCAGGCCTCCTGGCATCACAGTTGAAGCCCTAACCTCTACACCCTTTGTCTCTCAGCAGCTGCAGTGATCTTAACAGCTATAAAGCAGTTCCCATCCTGCCCCTGATAAAAAACCCTCTGATGGCTCCTACAATAAGCTCCAAACTCCTCACCGTGGCCTATGAGACGCGACATGATGTGCCCACCTCCCCAGCCTCATCTCCTCTCTTCCTCCCCTTGGCACATTCTGTTCCTCTCTGTTCTCGGAACACTCCAAGCCCACTCCTGCCTTGCATGTTCCCTGTGCCTAGAATGCTCTTCCCCAAGACCTTTGCATGCCTGGCTCCTTCTCACCATTCATGTCACAGCTCAAATGTCACCTCTGTCACCTCGGCAAGGTCTGCCTAGATTGCTAGGAGTGAAGGACCTCACAGACCAGCTCTCCAGGATCCATCCTAAACCACCCTGCTTTACTGCCACCCCAGCCTCGGGCAGTGAGAGCTTTGTTTCTGAATGATCTGTGCCACCCACACCTGCCATGGGCACTAAACTCCAGGGCAGGGGCATTGTTTACCTTATTTGCGGGGCCATCTCAGCCTTTAGCCCAGGCCTGTATACAATAGGTGTTTTGGCTGGGTGTAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGTCCGAGGCGGGCGGATCACAAGGTCAAGAGATCAAGACCATCCTGGCCAATATGGTGAAACCCCTTCTCTGCTAAAAACACAAAAATTAGCTGGGCGTGGTGGTGGGCACATCCAATAGGTGTTTTTATGTGTTGAATGAAAGGCTGGGTCATATGTGACCCTTGTGAGCAGCTGTTTCCGTGGACTGCTCCTGGGTCCCCTCCTCCACCCGCCCTGCCTCTCCCATTTCATCCTAGGAGGTGCCTGTGGCCGGGCGCAGTAGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGACCACCTGAGGTCAGGAATTTGAGACTAGCCGGCCCAACATGGCGAAACCCCATCTCTACTAAACATACAAAAAATTAGCCAGGCGTCGTGGCGGGCGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCCAGGAGGCGGAGCTTGCAGTGGGCCGAGATTGCGCCACTGCACTCTAGCCTGGGGGACAACAGCGAAACTCCGTCTCAAAAATATATATATATATTAATTAAATAAAAAAACGAGGTGCCTTCTCCTGACTCCCTGATCCCCGCGCTCTCCAGCTCTGCCCTCGCGATCGCTGGAGCCCCCTGAGGAACTCACGCAGACGCGGCTGCACCGCCTCATCAATCCCAACTTCTACGGCTATCAGGACGCCCCCTGGAAGATCTTCCTGCGCAAAGAGGTGCCGAGCACAGCCGTAGCCAGGGGAGGGGCTGAAGCGGGGCAGGGGAGGGGCTGAAGCGAGCAGAGGAGGGTCTAGGACTTGGGGAGGGAGCCCAGGAGGACAGAAAAAGGCCGGGCTGAAACCAGGGGTGGGGTTACAGCCGGGGCGGAACTGCATTTAGGGGGCGGGGCCGGGTGTGAAGCAAGGCCAGGGGGCAGTCGGACAGTACCCACTGAAGCCCCGCCCCTGCAGGTGTTTTACCCCAAGGACAGCTACAGCCATCCTGTGCAGCTTGACCTCCTGTTCCGGCAGGTGAGGTCCTGTCTCCCCTTTCTGCCTCAGTGAACTCAGCAGGGCTGTGTGGACGCAAAGATGAGCTAGCTGCAAAGCCTGCCTCTGCATGTTGGGATTTGGGGTCCTTGACAGGGGTGAGGATGGGCAGCTGTTTTATTGAATCTCCCCCTCCCATGGGCAGGGTCAGTGAGCCCACAGTTCAACCCAATCAGAGCCATAGTCTGTCTGAGCTAGACATGGCCCAGAGATCAAATGTAAACCCTGTAAACCCCCCTATATAGAGTAGGAAACGGTGGCCTAGGAAGGGTGGCCTGGATTGTGGGGCTGAGGAGAAAGGAGAGGGCCCTGTAAGTGGGATCTGATTTACACAGATGACCCAGCTTACAGATGACCCCACTGCTGCAAAATGGGACCCCTCCCACATTGCCACTCACCCTAGTATAGTCCAGCCTGGGTCCCAGCTGGGGGAGTCCCATGTGCTGCCTGCATCACAGCCTGTTCCCACAGATCCTGCACGACACGCTCTCCGAGGCCTGCCTTCGCATCTCTGAGGATGAGAGGCTCAGGATGAAGGCCTTGTTTGGTATCTCGGGGGAGAGGAGGGGTACTGATGGGGCAACCAGTCAGAGGCACAGCCAGCCCTGTCCCAGAGGGAGACTGAGGCTGACAAGCCCAGGCCCACCATCTCCCAGACATGTGCCTCCTTGCTCTGCTTCTCTGGCCTCTCGCATGGCCGGGCTGCATGTTTGGGGTTGGCAAT	CTCCCCGGAACGGCTGCTGGTAC	A18151485C	MYO15A	NM_016239.4(MYO15A):c.7745_8224+177delinsCTCCCCGGAACGGCTGCTGGTAC	coding	Pathogenic
17	18154138	AC	A	C18154142A	MYO15A	NM_016239.4(MYO15A):c.8100del:p.Lys2701fs	coding	Pathogenic
17	18157827	G	GCGGC	A18157834G	MYO15A	NM_016239.4(MYO15A):c.8897_8900dup:p.Ala2968fs	coding	Pathogenic
17	18162604	GCA	G	C18162605G	MYO15A	NM_016239.4(MYO15A):c.9538_9539del:p.Gln3180fs	coding	Pathogenic
17	18163816	T	TGG	A18163817G	MYO15A	NM_016239.4(MYO15A):c.9765_9766insGG:p.Ile3256fs	coding	Pathogenic
17	18167596	CCTGA	C	G18167599A	MYO15A	NM_016239.4(MYO15A):c.9958_9961del:p.Asp3320fs	coding	Pathogenic
17	18173802	CT	C	T18173803G	MYO15A	NM_016239.4(MYO15A):c.10373del:p.Leu3458fs	coding	Pathogenic
17	18178843	G	GC	A18178850C	MYO15A	NM_016239.4(MYO15A):c.10572dup:p.Ser3525fs	coding	Pathogenic
17	18178849	CA	C	A18178850G	MYO15A	NM_016239.4(MYO15A):c.10573del:p.Ser3525fs	coding	Pathogenic
17	18178859	AC	A	C18178862T	MYO15A	NM_016239.4(MYO15A):c.10585del:p.Leu3529fs	coding	Pathogenic
17	18277783	TC	T	C18277785G	TOP3A	NM_004618.5(TOP3A):c.2718del:p.Thr907fs	coding	Pathogenic
17	18278073	GA	G	A18278075T	TOP3A	NM_004618.5(TOP3A):c.2428del:p.Ser810fs	coding	Pathogenic
17	18278230	T	TG	C18278238G	TOP3A	NM_004618.5(TOP3A):c.2271dup:p.Arg758fs	coding	Pathogenic
17	19343411	TCAC	T	C19343415G	B9D1	NM_015681.5(B9D1):c.517_519GTG[1]:p.Val174del	coding	Pathogenic
17	19347629	CAAATACAGGCTACAACCCCCCTGGCCACCAGGCTGAGCTGCCCAGGCCCCTGGAGACCCCAGAGCATTCCCAGCCTGAACCTAAGACAGAAAACGAGGTGAAGTCTGTCCTAGGACAAGTCCTGCCCAGGGCCCAGGTCAGAATGAGGACCTACCGGCCAGGTGAGAAGGGCACGTGCACGGCCCCATAGCCTCGAACCACATCGTTCCCG	C	A19347632C	B9D1	NM_015681.5(B9D1):c.285_341+154del	noncoding	Pathogenic
17	19648991	GGGTCCGACAGGCGTTCCTGTCCGGCC	G	C19648996G	ALDH3A2	NM_000382.3(ALDH3A2):c.25_50del:p.Arg9fs	coding	Pathogenic/Likely_pathogenic
17	19651761	TAGG	T	G19651764C	ALDH3A2	NM_000382.3(ALDH3A2):c.371_373del:p.Gly124del	coding	Pathogenic
17	19651766	GCCATC	G	C19651767G	ALDH3A2	NM_000382.3(ALDH3A2):c.374_378del:p.Ala125fs	coding	Pathogenic
17	19652631	AG	A	G19652633T	ALDH3A2	NM_000382.3(ALDH3A2):c.471+1del	coding	Pathogenic/Likely_pathogenic
17	19656414	CT	C	T19656415G	ALDH3A2	NM_000382.3(ALDH3A2):c.521del:p.Leu174fs	coding	Pathogenic
17	19656464	C	CA	T19656469A	ALDH3A2	NM_000382.3(ALDH3A2):c.574dup:p.Ile192fs	coding	Pathogenic/Likely_pathogenic
17	19657861	AG	A	G19657863T	ALDH3A2	NM_000382.3(ALDH3A2):c.798+1del	coding	Pathogenic
17	19657862	GGTTTGT	G	G19657863A	ALDH3A2	NM_000382.3(ALDH3A2):c.798+1_798+6del	coding	Pathogenic/Likely_pathogenic
17	19661135	TG	T	G19661137A	ALDH3A2	NM_000382.3(ALDH3A2):c.809del:p.Gly270fs	coding	Pathogenic
17	19661229	GCTTTTGGT	CCTTTGGG	G19661229C	ALDH3A2	NM_000382.3(ALDH3A2):c.901_909delinsCCTTTGGG:p.Ala301fs	coding	Pathogenic
17	19663333	CCC	GGGCTAAAAGTACTGTTGGGG	C19663333G	ALDH3A2	NM_000382.3(ALDH3A2):c.941_943delinsGGGCTAAAAGTACTGTTGGGG:p.Ala314_Pro315delinsGlyAlaLysSerThrValGlyAla	coding	Pathogenic
17	19663336	CA	C	A19663338C	ALDH3A2	NM_000382.3(ALDH3A2):c.946del:p.Thr316fs	coding	Pathogenic
17	19671802	TAA	T	A19671804G	ALDH3A2	NM_000382.3(ALDH3A2):c.1291_1292del:p.Lys431fs	coding	Pathogenic
17	19671804	AAG	A	G19671810A	ALDH3A2	NM_000382.3(ALDH3A2):c.1293_1294GA[2]:p.Glu433fs	coding	Pathogenic
17	19671818	T	TAACAA	C19671825A	ALDH3A2	NM_000382.3(ALDH3A2):c.1307_1311dup:p.Leu438fs	coding	Pathogenic
17	19677447	TAC	T	C19677451T	ALDH3A2	NM_000382.3(ALDH3A2):c.*1877_*1878CA[1]	noncoding	Benign
17	28404714	CAG	C	A28404715T	SLC46A1	NM_080669.6(SLC46A1):c.981_982del:p.Tyr327_Cys328delinsTer	coding	Pathogenic
17	28405909	CGG	C	G28405910T	SLC46A1	NM_080669.6(SLC46A1):c.204_205del:p.Asn68fs	coding	Pathogenic
17	28405917	GC	TT	G28405917T	SLC46A1	NM_080669.6(SLC46A1):c.197_198delinsAA:p.Cys66Ter	coding	Pathogenic
17	28405920	GC	G	C28405927T	SLC46A1	NM_080669.6(SLC46A1):c.194del:p.Gly65fs	coding	Pathogenic
17	28405920	G	GC	T28405928C	SLC46A1	NM_080669.6(SLC46A1):c.194dup:p.Cys66fs	coding	Pathogenic
17	28406091	C	CG	C28406098G	SLC46A1	NM_080669.6(SLC46A1):c.23dup:p.Glu9fs	coding	Pathogenic
17	28524567	TG	T	G28524568C	FOXN1	NM_001369369.1(FOXN1):c.189del:p.Pro65fs	coding	Pathogenic
17	28524867	TG	T	G28524869A	FOXN1	NM_001369369.1(FOXN1):c.490del:p.Asp164fs	coding	Pathogenic
17	28524940	CA	C	A28524941G	FOXN1	NM_001369369.1(FOXN1):c.562del:p.Ser188fs	coding	Pathogenic
17	28529120	C	CAT	C28529124T	FOXN1	NM_001369369.1(FOXN1):c.728_729dup:p.Pro244fs	coding	Pathogenic
17	28534334	G	GCACC	G28534340A	FOXN1	NM_001369369.1(FOXN1):c.933_936dup:p.Asp313fs	coding	Pathogenic
17	28534484	C	CA	T28534490A	FOXN1	NM_001369369.1(FOXN1):c.1086dup:p.Trp363fs	coding	Pathogenic
17	28534491	GGAAGAGGAAAGATCC	G	G28534492C	FOXN1	NM_001369369.1(FOXN1):c.1089_1103del:p.Trp363_Pro368delinsCys	coding	Pathogenic
17	28534935	A	ACTTG	A28534941T	FOXN1	NM_001369369.1(FOXN1):c.1366_1369dup:p.His457fs	coding	Pathogenic
17	28534986	TC	T	C28534989A	FOXN1	NM_001369369.1(FOXN1):c.1418del:p.Pro473fs	coding	Pathogenic
17	28535016	GGGCC	CCA	G28535016C	FOXN1	NM_001369369.1(FOXN1):c.1445_1449delinsCCA:p.Arg482fs	coding	Pathogenic
17	28554891	TTGCCCAGAAGCTGCGCCAGGGAGGTAAGGGTGGTGG	AGCAACC	T28554891A	PIGS	NM_033198.4(PIGS):c.1316_1352delinsGGTTGCT:p.Thr439_Lys451delinsArgLeuLeu	coding	Pathogenic
17	28703611	T	TG	C28703614G	PROCA1	NM_001304952.2(PROCA1):c.963dup:p.Arg322fs	coding	Benign
17	28734172	CA	C	A28734173T	NEK8	NM_178170.3(NEK8):c.238del:p.Met80fs	coding	Pathogenic
17	28737428	AC	A	C28737430A	NEK8	NM_178170.3(NEK8):c.743del:p.Pro248fs	coding	Pathogenic
17	28741977	T	TC	T28741985C	NEK8	NM_178170.3(NEK8):c.2076dup:p.Ter693LeuextTer?	coding	Pathogenic
17	29252116	AGAG	A	G29252120A	CRYBA1	NM_005208.4(CRYBA1):c.269_271GAG[1]:p.Gly91del	coding	Pathogenic/Likely_pathogenic
17	29254307	CCA	C	C29254308G	CRYBA1	NM_005208.4(CRYBA1):c.607_608del:p.Gln203fs	coding	Pathogenic
17	30879415	G	GTA	G30879417A	ATAD5	NM_024857.5(ATAD5):c.4013-7_4013-6insAT	noncoding	Benign
17	30998905	AG	A	G30998907T	RNF135	NM_032322.4(RNF135):c.1015del:p.Val339fs	coding	Pathogenic
17	31155959	G	GT	C31155970T	NF1	NM_001042492.3(NF1):c.61-14dup	noncoding	Benign
17	31155959	GT	G	T31155969C	NF1	NM_001042492.3(NF1):c.61-14del	noncoding	Benign
17	31155970	CT	C	T31155979C	NF1	NM_001042492.3(NF1):c.61-4del	noncoding	Benign/Likely_benign
17	31155971	TTTTTTTTTCA	T	T31155972G	NF1	NM_001042492.3(NF1):c.61-11_61-2del	noncoding	Pathogenic
17	31155987	CA	C	A31155989T	NF1	NM_001042492.3(NF1):c.67del:p.Pro22_Ile23insTer	coding	Pathogenic
17	31156005	AG	A	G31156006A	NF1	NM_001042492.3(NF1):c.84del:p.Asn29fs	coding	Pathogenic
17	31156007	AAC	A	C31156013T	NF1	NM_001042492.2(NF1):c.87_88CA[2]:p.His31fs	coding	Pathogenic
17	31156014	A	AT	A31156016T	NF1	NM_001042492.3(NF1):c.93dup:p.Thr32fs	coding	Pathogenic
17	31156018	CA	C	A31156021G	NF1	NM_000267.3(NF1):c.99del:p.Val34fs	coding	Pathogenic
17	31156045	A	ATG	C31156049G	NF1	NM_000267.3(NF1):c.125_126dup:p.Leu43fs	coding	Pathogenic
17	31156068	AC	A	C31156069A	NF1	NM_001042492.3(NF1):c.147del:p.Lys48_Tyr49insTer	coding	Pathogenic
17	31156072	GT	G	T31156076C	NF1	NM_000267.3(NF1):c.154del:p.Ser52fs	coding	Pathogenic
17	31156102	T	TA	T31156104A	NF1	NM_000267.3(NF1):c.181dup:p.Ile61fs	coding	Pathogenic
17	31156111	GA	G	A31156113T	NF1	NM_000267.3(NF1):c.191del:p.Asn64fs	coding	Pathogenic
17	31156120	CA	C	A31156122T	NF1	NM_000267.3(NF1):c.200del:p.Asn67fs	coding	Pathogenic
17	31156126	GGTGA	G	G31156129A	NF1	NM_001042492.3(NF1):c.204+3_204+6del	coding	Pathogenic
17	31159007	TAG	T	G31159011A	NF1	NM_000267.3(NF1):c.206_207delGA	noncoding	Pathogenic
17	31159025	G	GCT	G31159028C	NF1	NM_000267.3(NF1):c.221_222dup:p.Ala75fs	coding	Pathogenic
17	31159031	GA	G	A31159038T	NF1	NM_000267.3(NF1):c.233del:p.Asn78fs	coding	Pathogenic
17	31159044	ATC	A	T31159051A	NF1	NM_000267.3(NF1):c.246_247del	coding	Pathogenic
17	31159044	ATCTC	A	T31159049A	NF1	NM_000267.3(NF1):c.244_247del	coding	Pathogenic
17	31159085	CT	C	T31159087G	NF1	NM_000267.3(NF1):c.282del:p.Ala95fs	coding	Pathogenic
17	31159088	GC	G	C31159089T	NF1	NM_001042492.3(NF1):c.284del:p.Ala95fs	coding	Pathogenic
17	31159090	TG	T	G31159094T	NF1	NM_000267.3(NF1):c.288+1del	coding	Pathogenic
17	31163193	AG	A	G31163195A	NF1	NM_000267.3(NF1):c.298del:p.Asp100fs	coding	Pathogenic
17	31163207	TTA	T	T31163208G	NF1	NM_000267.3(NF1):c.311_312del:p.Arg103_Leu104insTer	coding	Pathogenic
17	31163213	GA	G	A31163216C	NF1	NM_000267.3(NF1):c.319del:p.Thr107fs	coding	Pathogenic
17	31163223	TG	T	G31163225T	NF1	NM_000267.3(NF1):c.328del:p.Val110fs	coding	Pathogenic
17	31163226	TCAAA	T	A31163229G	NF1	NM_000267.3(NF1):c.332_335del:p.Lys111fs	coding	Pathogenic
17	31163227	CA	C	A31163230C	NF1	NM_001042492.3(NF1):c.333del:p.Lys111fs	coding	Pathogenic
17	31163233	G	GT	G31163236T	NF1	NM_001042492.3(NF1):c.338dup:p.Leu113fs	coding	Pathogenic
17	31163233	GT	G	T31163235G	NF1	NM_001042492.3(NF1):c.338del:p.Leu113fs	coding	Pathogenic
17	31163235	TG	T	G31163236C	NF1	NM_001042492.3(NF1):c.339del:p.Leu113fs	coding	Pathogenic
17	31163243	GA	G	A31163246T	NF1	NM_001042492.3(NF1):c.349del:p.Ile117fs	coding	Pathogenic
17	31163260	TCA	T	A31163264C	NF1	NM_001042492.3(NF1):c.365_366AC[1]:p.Thr123fs	coding	Pathogenic
17	31163266	CT	C	T31163267G	NF1	NM_001042492.3(NF1):c.370del:p.Cys124fs	coding	Pathogenic
17	31163268	G	GTT	C31163270T	NF1	NM_000267.3(NF1):c.372_373insTT:p.Arg125fs	coding	Pathogenic
17	31163293	TG	T	G31163294A	NF1	NM_000267.3(NF1):c.397del:p.Glu133fs	coding	Pathogenic
17	31163299	TC	T	C31163300G	NF1	NM_001042492.3(NF1):c.403del:p.Arg135fs	coding	Pathogenic
17	31163314	TG	T	G31163318T	NF1	NM_000267.3(NF1):c.421del:p.Val141fs	coding	Pathogenic
17	31163317	GGTTTTATTTTCTCTCA	G	T31163319C	NF1	NM_000267.3(NF1):c.422_437del:p.Val141fs	coding	Pathogenic
17	31163335	C	CTGCAACA	A31163343T	NF1	NM_001042492.3(NF1):c.439_445dup:p.Asn149fs	coding	Pathogenic
17	31163344	CT	C	T31163346C	NF1	NM_000267.3(NF1):c.449del:p.Phe150fs	coding	Pathogenic
17	31163356	CTT	C	T31163358A	NF1	NM_001042492.3(NF1):c.461_462del:p.Val153_Phe154insTer	coding	Pathogenic
17	31169889	AG	A	G31169891T	NF1	NM_000267.3(NF1):c.480delG	noncoding	Pathogenic
17	31169905	CTG	C	G31169907T	NF1	NM_000267.3(NF1):c.496_497del:p.Val166fs	coding	Pathogenic
17	31169905	CTGTT	C	T31169910C	NF1	NM_001042492.3(NF1):c.495_498TGTT[1]:p.Cys167fs	coding	Pathogenic
17	31169927	TG	T	G31169928A	NF1	NM_001042492.3(NF1):c.517del:p.Asp173fs	coding	Pathogenic
17	31169939	T	TA	T31169941A	NF1	NM_000267.3(NF1):c.529dup:p.Ile177fs	coding	Pathogenic
17	31169948	GTTAC	G	T31169949A	NF1	NM_000267.3(NF1):c.538_541del:p.Leu180fs	coding	Pathogenic
17	31169950	T	TA	C31169952A	NF1	NM_001042492.3(NF1):c.540dup:p.Gln181fs	coding	Pathogenic
17	31169960	CA	C	A31169962T	NF1	NM_000267.3(NF1):c.551del:p.Asn184fs	coding	Pathogenic
17	31169970	TG	T	G31169971T	NF1	NM_000267.3(NF1):c.560del:p.Cys187fs	coding	Pathogenic
17	31169978	AT	A	T31169980A	NF1	NM_000267.3(NF1):c.569del:p.Lys189_Leu190insTer	coding	Pathogenic
17	31181406	ATT	A	T31181407G	NF1	NM_001042492.3(NF1):c.587-15_587-14del	noncoding	Pathogenic
17	31181426	AG	A	G31181427C	NF1	NM_000267.3(NF1):c.592del:p.Ala198fs	coding	Pathogenic
17	31181428	CA	C	A31181429T	NF1	NM_000267.3(NF1):c.594del:p.Phe199fs	coding	Pathogenic
17	31181435	AT	A	T31181438A	NF1	NM_000267.3(NF1):c.603del:p.Phe201fs	coding	Pathogenic
17	31181441	AG	A	G31181442C	NF1	NM_000267.3(NF1):c.607del:p.Ala203fs	coding	Pathogenic
17	31181442	G	GC	T31181446C	NF1	NM_000267.3(NF1):c.610dup:p.Leu204fs	coding	Pathogenic
17	31181464	T	TA	G31181466A	NF1	NM_001042492.3(NF1):c.630dup:p.Ala211fs	coding	Pathogenic
17	31181477	TA	T	A31181478G	NF1	NM_001042492.3(NF1):c.643del:p.Ser215fs	coding	Pathogenic
17	31181484	GA	G	A31181488G	NF1	NM_001042492.3(NF1):c.653del:p.Lys218fs	coding	Pathogenic
17	31181484	G	GA	G31181489A	NF1	NM_000267.3(NF1):c.653dup:p.Ala219fs	coding	Pathogenic
17	31181695	GTTCT	G	C31181698A	NF1	NM_001042492.3(NF1):c.655-12_655-9del	noncoding	Pathogenic
17	31181716	TG	T	G31181718A	NF1	NM_000267.3(NF1):c.663del:p.Phe220_Trp221insTer	coding	Pathogenic
17	31181756	TGTACCAG	T	G31181757A	NF1	NM_001042492.3(NF1):c.702_708del:p.Tyr235fs	coding	Pathogenic
17	31181759	A	AC	A31181762C	NF1	NM_001042492.3(NF1):c.706dup:p.Gln236fs	coding	Pathogenic
17	31181778	T	TA	T31181780A	NF1	NM_000267.3(NF1):c.724dup:p.Met242fs	coding	Pathogenic
17	31181801	A	AT	G31181818T	NF1	NM_001042492.3(NF1):c.730+32dup	noncoding	Benign
17	31181801	AT	A	T31181817G	NF1	NM_001042492.3(NF1):c.730+32del	noncoding	Benign
17	31182505	CAG	C	G31182507A	NF1	NM_001042492.3(NF1):c.731-1_731del	noncoding	Pathogenic
17	31182524	AT	A	T31182527G	NF1	NM_000267.3(NF1):c.750del:p.Phe250fs	coding	Pathogenic
17	31182541	GT	G	T31182545G	NF1	NM_001042492.3(NF1):c.768del:p.Phe256fs	coding	Pathogenic/Likely_pathogenic
17	31182562	G	GTT	A31182564T	NF1	NM_001042492.3(NF1):c.786_787insTT:p.Lys263fs	coding	Pathogenic
17	31182563	TA	T	A31182566G	NF1	NM_000267.3(NF1):c.789del:p.Ala264fs	coding	Pathogenic
17	31182566	AG	A	G31182567C	NF1	NM_001042492.3(NF1):c.790del:p.Ala264fs	coding	Pathogenic
17	31182568	CA	C	A31182569G	NF1	NM_000267.3(NF1):c.792del:p.Ala265fs	coding	Pathogenic
17	31182568	C	CA	G31182570A	NF1	NM_001042492.3(NF1):c.792dup:p.Ala265fs	coding	Pathogenic
17	31182596	C	CCTTA	T31182601C	NF1	NM_001042492.3(NF1):c.820_823dup:p.Ile275fs	coding	Pathogenic
17	31182612	GA	G	A31182615T	NF1	NM_001042492.3(NF1):c.838del:p.Glu279_Ile280insTer	coding	Pathogenic
17	31182623	GGATATATC	G	G31182624C	NF1	NM_001042492.3(NF1):c.847_854del:p.Asp283fs	coding	Pathogenic
17	31182627	A	ATATC	C31182632T	NF1	NM_001042492.3(NF1):c.851_854dup:p.Lys286fs	coding	Pathogenic
17	31182648	GA	G	A31182652C	NF1	NM_001042492.3(NF1):c.875del:p.Asn292fs	coding	Pathogenic
17	31182653	CA	C	A31182655C	NF1	NM_001042492.3(NF1):c.878del:p.Asn293fs	coding	Pathogenic
17	31182656	CATGA	C	G31182659A	NF1	NM_000267.3(NF1):c.882_885del:p.Met294fs	coding	Pathogenic
17	31200391	ATTATC	A	T31200397G	NF1	NM_001042492.3(NF1):c.889-25_889-21del	noncoding	Benign
17	31200413	ATTCTGTAGAAG	A	C31200416A	NF1	NM_001042492.3(NF1):c.889-6_893del	noncoding	Pathogenic
17	31200419	TA	T	A31200420G	NF1	NM_000267.3(NF1):c.889-2del	noncoding	Pathogenic
17	31200434	GACAGTCTACGA	G	C31200436A	NF1	NM_001042492.3(NF1):c.903_913del:p.Asp301fs	coding	Pathogenic
17	31200440	CT	C	T31200441A	NF1	NM_000267.3(NF1):c.908del:p.Leu303fs	coding	Pathogenic
17	31200442	AC	TT	A31200442T	NF1	NM_000267.3(NF1):c.909_910delinsTT:p.Arg304Ter	coding	Pathogenic
17	31200453	TT	A	T31200453A	NF1	NM_001042492.2(NF1):c.920_921delinsA:p.Leu307fs	coding	Pathogenic
17	31200454	TGCTG	T	T31200457C	NF1	NM_000267.3(NF1):c.924_927del:p.Gly309fs	coding	Pathogenic
17	31200457	TG	T	G31200459C	NF1	NM_001042492.3(NF1):c.926del:p.Gly309fs	coding	Pathogenic
17	31200477	A	ATGCC	G31200478T	NF1	NM_001042492.3(NF1):c.944_945insTGCC:p.Gln315fs	coding	Pathogenic
17	31200478	GC	AA	G31200478A	NF1	NM_000267.3(NF1):c.945_946delinsAA:p.Leu316Met	coding	Pathogenic
17	31200480	T	TGACA	A31200487C	NF1	NM_000267.3(NF1):c.950_953dup:p.Glu318fs	coding	Pathogenic
17	31200483	CAG	C	G31200485A	NF1	NM_001042492.3(NF1):c.952_953del:p.Glu318fs	coding	Pathogenic
17	31200484	AG	A	G31200485A	NF1	NM_000267.3(NF1):c.952del:p.Glu318fs	coding	Pathogenic
17	31200485	GA	G	A31200488G	NF1	NM_000267.3(NF1):c.955del:p.Ser319fs	coding	Pathogenic
17	31200485	G	GA	G31200489A	NF1	NM_000267.3(NF1):c.955dup:p.Ser319fs	coding	Pathogenic
17	31200495	CA	C	A31200497T	NF1	NM_001042492.3(NF1):c.964del:p.Ile322fs	coding	Pathogenic
17	31200511	ACTGTGTAAAGCAAGTACTT	A	C31200512A	NF1	NM_001042492.3(NF1):c.979_997del:p.Leu327fs	coding	Pathogenic
17	31200512	CTG	C	G31200516A	NF1	NM_000267.3(NF1):c.983_984del	coding	Pathogenic
17	31200520	AGCAAGTAC	A	G31200521T	NF1	NM_000267.3(NF1):c.988_995del:p.Ala330fs	coding	Pathogenic
17	31200525	GTACT	G	T31200529A	NF1	NM_000267.3(NF1):c.996_999del:p.Tyr333fs	coding	Pathogenic
17	31200528	C	CT	A31200531T	NF1	NM_001042492.3(NF1):c.997dup:p.Tyr333fs	coding	Pathogenic
17	31200528	CT	C	T31200530A	NF1	NM_001042492.2(NF1):c.997del:p.Tyr333fs	coding	Pathogenic
17	31200530	T	TA	C31200532A	NF1	NM_001042492.3(NF1):c.998dup:p.Tyr333Ter	coding	Pathogenic
17	31200549	ACT	A	C31200552G	NF1	NM_001042492.3(NF1):c.1017_1018CT[1]:p.Ser340fs	coding	Pathogenic/Likely_pathogenic
17	31200552	C	CT	G31200554T	NF1	NM_000267.3(NF1):c.1020dup:p.Val341fs	coding	Pathogenic
17	31200557	A	ATTTTCCTACTG	T31200568G	NF1	NM_001042492.3(NF1):c.1034_1035insGTTTTCCTACT:p.Val346fs	coding	Pathogenic
17	31200568	TG	T	G31200569T	NF1	NM_001042492.3(NF1):c.1036del:p.Val346fs	coding	Pathogenic
17	31200571	TCAGTC	T	G31200574T	NF1	NM_000267.3(NF1):c.1041_1045del:p.Gln347fs	coding	Pathogenic
17	31200590	CT	C	T31200592A	NF1	NM_000267.3(NF1):c.1059del:p.Lys354fs	coding	Pathogenic
17	31201038	AC	A	C31201040T	NF1	NM_001042492.3(NF1):c.1066del:p.Leu356fs	coding	Pathogenic
17	31201063	AT	A	T31201065C	NF1	NM_001042492.3(NF1):c.1091del:p.Phe364fs	coding	Pathogenic
17	31201068	CAA	C	A31201069G	NF1	NM_000267.3(NF1):c.1095_1096del:p.Gly367fs	coding	Pathogenic
17	31201070	A	AG	A31201072G	NF1	NM_001042492.3(NF1):c.1097dup:p.Gly367fs	coding	Pathogenic
17	31201076	A	AG	T31201078G	NF1	NM_001042492.3(NF1):c.1103dup:p.Ser368fs	coding	Pathogenic
17	31201083	CT	C	T31201084G	NF1	NM_001042492.3(NF1):c.1110del:p.Ala371fs	coding	Pathogenic
17	31201094	GAT	G	A31201095C	NF1	NM_001042492.3(NF1):c.1121_1122del:p.Asp374fs	coding	Pathogenic
17	31201123	CT	C	T31201126C	NF1	NM_000267.3(NF1):c.1152del:p.Arg385fs	coding	Pathogenic
17	31201126	TC	T	C31201127G	NF1	NM_001042492.3(NF1):c.1153del:p.Arg385fs	coding	Pathogenic
17	31201151	CA	C	A31201152C	NF1	NM_000267.3(NF1):c.1178del:p.His393fs	coding	Pathogenic
17	31201153	C	CT	A31201157T	NF1	NM_001042492.3(NF1):c.1182dup:p.Lys395Ter	coding	Pathogenic
17	31201388	CT	C	T31201398C	NF1	NM_001042492.3(NF1):c.1186-13del	noncoding	Benign
17	31201415	GC	G	C31201417T	NF1	NM_001042492.3(NF1):c.1192del:p.Leu398fs	coding	Pathogenic
17	31201440	AT	A	T31201443C	NF1	NM_000267.3(NF1):c.1218del:p.His407fs	coding	Pathogenic
17	31201466	T	TC	A31201469C	NF1	NM_000267.3(NF1):c.1243dup:p.His415fs	coding	Pathogenic
17	31201479	CA	C	A31201480C	NF1	NM_000267.3(NF1):c.1255del:p.Thr419fs	coding	Pathogenic
17	31206240	TCCGCATT	CCC	T31206240C	NF1	NM_001042492.3(NF1):c.1261_1268delinsCCC:p.Ser421fs	coding	Pathogenic
17	31206256	GGCCTAAGATTGAT	G	C31206259T	NF1	NM_000267.3(NF1):c.1280_1292del:p.Pro427fs	coding	Pathogenic
17	31206271	C	CTG	A31206277G	NF1	NM_001042492.3(NF1):c.1296_1297dup:p.Tyr433fs	coding	Pathogenic
17	31206275	G	ATA	G31206275A	NF1	NM_001042492.3(NF1):c.1296delinsATA:p.Cys434fs	coding	Pathogenic
17	31206282	CACTCGGTTGA	C	C31206286T	NF1	NM_001042492.3(NF1):c.1307_1316del:p.Ser436fs	coding	Pathogenic
17	31206300	AAT	A	A31206303G	NF1	NM_000267.3(NF1):c.1322_1323AT[1]:p.Met442fs	coding	Pathogenic
17	31206308	TG	T	G31206310T	NF1	NM_000267.3(NF1):c.1331del:p.Gly444fs	coding	Pathogenic
17	31206321	C	CA	T31206323A	NF1	NM_000267.3(NF1):c.1343dup:p.His448fs	coding	Pathogenic
17	31206322	A	AT	A31206324T	NF1	NM_000267.3(NF1):c.1344dup:p.Lys449Ter	coding	Pathogenic
17	31206323	T	TAA	G31206327A	NF1	NM_001042492.3(NF1):c.1346_1347dup:p.Ala450fs	coding	Pathogenic
17	31206326	A	AGC	A31206329G	NF1	NM_001042492.3(NF1):c.1348_1349dup:p.Val451fs	coding	Pathogenic
17	31206352	C	CA	G31206354A	NF1	NM_000267.3(NF1):c.1374dup:p.Ala459fs	coding	Pathogenic
17	31206372	GT	G	T31206373A	NF1	NM_001042492.3(NF1):c.1392+2del	noncoding	Pathogenic
17	31214448	TAG	T	A31214451T	NF1	NM_000267.3(NF1):c.1393_1394delAG	noncoding	Pathogenic
17	31214451	AG	A	G31214452T	NF1	NM_001042492.3(NF1):c.1394del:p.Ser465fs	coding	Pathogenic
17	31214456	T	TA	C31214458A	NF1	NM_001042492.3(NF1):c.1399dup:p.Thr467fs	coding	Pathogenic
17	31214457	AC	A	C31214458A	NF1	NM_000267.3(NF1):c.1400del:p.Thr467fs	coding	Pathogenic
17	31214457	ACATTTAAAGAAAAAGT	A	C31214458A	NF1	NM_000267.3(NF1):c.1400_1415del:p.Thr467fs	coding	Pathogenic
17	31214466	GA	G	A31214471G	NF1	NM_001042492.3(NF1):c.1413del:p.Lys471_Val472insTer	coding	Pathogenic
17	31214479	G	GC	T31214482C	NF1	NM_000267.3(NF1):c.1423dup:p.Leu475fs	coding	Pathogenic
17	31214518	GA	G	A31214520G	NF1	NM_000267.3(NF1):c.1462del:p.Ser488fs	coding	Pathogenic
17	31214524	ATAAG	A	A31214527T	NF1	NM_000267.3(NF1):c.1469_1472del:p.Lys490fs	coding	Pathogenic
17	31214527	A	ATTAT	G31214528T	NF1	NM_000267.3(NF1):c.1469_1470insTTAT:p.Lys490fs	coding	Pathogenic
17	31214530	ATCTTC	A	C31214535G	NF1	NM_001042492.3(NF1):c.1477_1481del:p.Leu493fs	coding	Pathogenic
17	31214569	CA	C	A31214572G	NF1	NM_000267.3(NF1):c.1514del:p.Lys505fs	coding	Pathogenic
17	31214579	GC	G	C31214580T	NF1	NM_001042492.3(NF1):c.1522del:p.Leu508fs	coding	Pathogenic
17	31214580	C	CT	G31214584T	NF1	NM_000267.3(NF1):c.1525dup:p.Cys509fs	coding	Pathogenic
17	31214580	CT	C	T31214583G	NF1	NM_000267.3(NF1):c.1525del:p.Cys509fs	coding	Pathogenic
17	31218969	A	AT	A31218977T	NF1	NM_001042492.3(NF1):c.1528-29dup	noncoding	Benign
17	31219007	TC	T	C31219009A	NF1	NM_001042492.3(NF1):c.1532del:p.Pro511fs	coding	Pathogenic
17	31219017	CA	C	A31219018G	NF1	NM_000267.3(NF1):c.1541del:p.Gln514fs	coding	Pathogenic
17	31219017	CAG	C	A31219018G	NF1	NM_000267.3(NF1):c.1541_1542del:p.Gln514fs	coding	Pathogenic
17	31219026	GAAACCCAAGGCAGT	G	A31219028C	NF1	NM_000267.3(NF1):c.1551_1564del:p.Glu517fs	coding	Pathogenic
17	31219029	AC	A	C31219032A	NF1	NM_001042492.3(NF1):c.1555del:p.Gln519fs	coding	Pathogenic
17	31219037	CA	C	A31219038G	NF1	NM_000267.3(NF1):c.1561del:p.Ser521fs	coding	Pathogenic
17	31219040	T	TA	C31219042A	NF1	NM_001042492.3(NF1):c.1564dup:p.Thr522fs	coding	Pathogenic
17	31219047	GA	G	A31219049T	NF1	NM_000267.3(NF1):c.1572del:p.Glu524fs	coding	Pathogenic
17	31219058	AG	A	G31219061C	NF1	NM_000267.3(NF1):c.1584del:p.Leu529fs	coding	Pathogenic
17	31219082	GTC	G	T31219083A	NF1	NM_001042492.3(NF1):c.1606_1607del:p.Ser536fs	coding	Pathogenic
17	31219083	TCA	T	C31219088T	NF1	NM_001042492.3(NF1):c.1607_1608CA[2]:p.Met538fs	coding	Pathogenic
17	31219084	C	CA	C31219086A	NF1	NM_001042492.3(NF1):c.1608dup:p.His537fs	coding	Pathogenic
17	31219089	AT	A	T31219090G	NF1	NM_000267.3(NF1):c.1613del:p.Met538fs	coding	Pathogenic
17	31219095	GA	G	A31219096G	NF1	NM_000267.3(NF1):c.1619del:p.Glu540fs	coding	Pathogenic
17	31219114	T	TG	A31219117G	NF1	NM_001042492.3(NF1):c.1639dup:p.Glu547fs	coding	Pathogenic
17	31221853	CT	C	T31221854G	NF1	NM_001042492.3(NF1):c.1646del:p.Leu549fs	coding	Pathogenic
17	31221868	CAGTT	C	T31221871A	NF1	NM_001042492.3(NF1):c.1663_1666del:p.Leu555fs	coding	Pathogenic
17	31221871	TTAGA	T	A31221875C	NF1	NM_000267.3(NF1):c.1667_1670del:p.Asp556fs	coding	Pathogenic
17	31221878	GC	G	C31221879A	NF1	NM_001042492.3(NF1):c.1671del:p.Ser557fs	coding	Pathogenic
17	31221879	CA	C	A31221880T	NF1	NM_000267.3(NF1):c.1672del:p.Ile558fs	coding	Pathogenic
17	31221887	TG	T	G31221888T	NF1	NM_000267.3(NF1):c.1680del:p.Leu560fs	coding	Pathogenic
17	31221898	GAT	G	A31221899G	NF1	NM_001042492.3(NF1):c.1691_1692del:p.Asp564fs	coding	Pathogenic
17	31221915	AT	A	T31221919G	NF1	NM_001042492.3(NF1):c.1711del:p.Trp571fs	coding	Pathogenic
17	31221919	TG	T	G31221922A	NF1	NM_000267.3(NF1):c.1714del:p.Glu572fs	coding	Pathogenic
17	31223421	CAATG	C	T31223424C	NF1	NM_001042492.3(NF1):c.1722-20_1722-17del	noncoding	Pathogenic
17	31223436	TACTGC	AAAA	T31223436A	NF1	NM_001042492.3(NF1):c.1722-8_1722-3delinsAAAA	noncoding	Pathogenic
17	31223448	CAA	C	A31223450T	NF1	NM_001042492.3(NF1):c.1728_1729del:p.Gln576fs	coding	Pathogenic
17	31223454	C	CT	A31223461T	NF1	NM_000267.3(NF1):c.1738dup:p.Tyr580fs	coding	Pathogenic
17	31223473	AATTAACT	A	T31223475G	NF1	NM_001042492.3(NF1):c.1753_1759del:p.Leu585fs	coding	Pathogenic
17	31223475	TTAAC	T	A31223478G	NF1	NM_000267.3(NF1):c.1756_1759del:p.Thr586fs	coding	Pathogenic
17	31223481	A	ATAGTT	G31223482T	NF1	NM_001042492.3(NF1):c.1759_1760insTAGTT:p.Ser587fs	coding	Pathogenic
17	31223503	CAG	C	G31223505A	NF1	NM_000267.3(NF1):c.1783_1784del:p.Glu595fs	coding	Pathogenic
17	31223505	GAA	G	A31223507T	NF1	NM_001042492.3(NF1):c.1785_1786del:p.Glu595fs	coding	Pathogenic
17	31223523	C	CG	A31223527G	NF1	NM_001042492.3(NF1):c.1804dup:p.Glu602fs	coding	Pathogenic
17	31223536	TC	T	C31223537T	NF1	NM_000267.3(NF1):c.1815del:p.Cys606fs	coding	Pathogenic
17	31223549	ATTTC	A	T31223552C	NF1	NM_001042492.3(NF1):c.1830_1833del:p.Leu612fs	coding	Pathogenic
17	31223563	ATAAGG	A	G31223568C	NF1	NM_000267.3(NF1):c.1845+1_1845+5del	coding	Pathogenic
17	31224599	AGGAATCCAGTAATGAATTCATAGTGCCCTGGTAGGCATAGTCACTCTTGTGACATACTTGGTGTATATACATACCAGAGTTAATTACTGGTCCAGAAGAACTTAATCTCAAGAGCCAATTTCTGGTTATCCCAACATGGCACAGTATAAAATCTTATGGAAAAAAAATCTTTGTCATTGAGATCAAATTATAGTTTTCATACAGTAGATTTATATTGTTGATGTTTTACTCATGTTTATGTCAGACTTAATTTATATTTGTAGAATCTACTGTTTCTGATGATTTAGAGAATGGGAAACTGAAAGAAATTTTAAAGAATTAAGTAAACCTTGTTTGTTCTAATGGGTTTCTAGTGAATCTCCTTCAAGTTGGGGCATAGAGATTGAGAGGAGAGGTTTTTTAGGAGAGTCTCAAACAGGAAGACAACTCAAATAAGTGTTTATTCCTCTTGGTTGTCAGTGCTTCAGTAAAGCTTATTTATTTATTTTTTTCTAGCAGGCAGATAGAAGTTCCTGTCACTTTCTCCTTTTTTACGGGGTAGGATGTGATATTCCTTCTAGTGGAAATACCAGTCAAATGTCCATGGATCATGAAGAATTACTACGTACTCCTGGAGCCTCTCTCCGGAAGGGAAAAGGGAACTCCTCTATGGTCAGCTTCTTCTGTACTTTTTCTGTATCATTTTATGTGCTCTGTTTGTTTTCTGAATGAAATTTGGTAAATTTCATCTAGGTAATATAGTGTAATAGTGAAAAACTGCTTAGAATCTAGTTCTATTACTGCTCTTTGTGGAACTTTGGGCAAGTTCTTAACATCCTTGTTCCTCAGTTCCTCAACTTTAAAATGGGGACAGTAATAGTTCCTGCCCCAGAGTTGTTAAAGAGGGTTAAATAAAAGGATGTGTAAATAGCACTTGACACTTACAAGCTATATCTGATAATTATAATTATTATAAACCTCCACTCCATAAAAAACCCATTCATACCACAGAAGTATAGAATTCGTACCGGCTAACAAAGGTACAGATTTACAGGGATAAAAACAAAGTATTTTGCTTCATGTTAAAGATAAGTGTTTCTGTGATTTGTGTTTGTGTGTATAATTTCTTTTAAATATAAATCATATTTCAAGTGAAAATATCACATCATTACAGAAGAGTTTATTTTCCAAACCAAAACTTTTTTCATTCCTAATTTTTAATGCAACCTTGTTAAGGAAGAAACACCTAAGCAGTATGATATTTACTAATGTCTGTTTTACTTGTAGAATTTGCATTTATTTTATCAATTATTTTCTCCATTTCGTGTTTGGAGAATAAGTAATTCAGAATCAAATGTATCTTCTACAGCAATATTTAGTTCTTGTTTATGCCCTTGTTTCAATGAGTGCTGCAGTGTACTTATTTTATTACTTCCCTATAGCAAGTAGATAGAATTTCCTGTTACTTCCTCTTTTTTTGTCATTTCTAATTGACTGGGAGGTACATTATATTGTTACTGCAGTAGATTTACGTTATGGTGTTTACCTGTCCATGTTAGAATCAGTTTACATTTCTGGAATCTGGAATAGGATAATATCTATTTGATTTGAAATTGAACAGATGGTAGCATTATGTTGGTCCAGATAATCTCATTTCTCATTTGGACAAGATATTTTGGGGTTTGAAAAATTCCTATAATGATTAAAGGAAAAAGCTCTTGTGAGTTATTGTATGCGGAGACACACACACACACACACACACACACACACACACACACACAGTTTATTGCATTGTTAGATTTTATACATAAAATTACCCAAGTTGCAAATATATGTCTTCCACCCTTGACTCTCAGGATAGTGCAGCAGGATGCAGCGGAACCCCCCCGATTTGCCGACAAGCCCAGACCAAACTAGAAGTGGCCCTGTACATGTTTCTGTGGAACCCTGACACTGAAGCTGTTCTGGTTGCCATGTCCTGTTTCCGCCACCTCTGTGAGGAAGCAGATATCCGGTGTGGGGTGGATGAAGTGTCAGTGCATAACCTCTTGCCCAACTATAACACATTCATGGAGTTTGCCTCTGTCAGCAATATGATGTCAACAGGTAAATGTGAATAGTGGTTTTTTTTACTCAGTCTGCCTCAAAGCACATGGCATCTGATTTTGAGAATGTATTTAAGGTCACTACTTTGTAAGTTTACAGGGGAAATTCAAGTAGCTTACTTGAAATCCTTTTCTGAACAAAGTAAGATGAAAATAAAAAGCATTTGAAATAAATTGTTAGTCTTCCACTGAGTTGTTAATATGCTATACATTTTAAAAATAACTGGCAGTAGATGTTACTATCAGTTATGATTATGTAATTTACTCTGCCTAAGTTGTAGATAGTGAAGTTTTACAAACATTGGCGTATGTTTTGAGTAAATTGTAGGTGGGAATAGCTATTTTATTCTGTGGACATTGTAGAGTCCAAGATAAGTACCTTTCCTGTGAGGTTAGTGAAAGGAAGTTTTTGGCTTTATCATTTGAAGCATTTGCTCTGCTCTTCCTACTCCTTTTGGGTGGAGCTTATCAGGTTCTCCATTGGCAGGCAGGGCTCTAAGTGCAGTAACTTGATTTGCTGTTGTATTTGCTTAGGAAGAGCAGCACTTCAGAAAAGAGTGATGGCACTGCTGAGGCGCATTGAGCATCCCACTGCAGGAAACACTGAGGTATGCCCTTAGCAACAGAAACACCCCTCCCAGGCGCCCACCCTCAATTTGGAAGCCTCTTGTTACATATGTGTGATCAGGAATAGCTTTTGAAGTAAATCCAAGATACGTGCATATTACAAGTATAATATCTGAGTATTTAATATACATCAAGTTTGAAACTTGGCTGTAGCTGATTGATGTTTAGCTCTAGACTAAGTTGCTTTCAAGTGATAATTGCCTTCATTTTAGGCTTGGGAAGATACACATGCAAAATGGGAACAAGCAACAAAGCTAATCCTTAACTATCCAAAAGCCAAAATGGAAGATGGCCAGGTAAGTCTGTAAAGTTGACTTTTGTCTGTTAACTGATCTGCTAAATATATGTACTTCACTTTGATAATCTTTCAAGAGTCGCTCAGTAAAGTAAACATATAGCTGTGTGAAGACTGATATTTAGTTGTGGTTTATCTAGACCTGTACTTTGTAATGTGGTAGCTACTAGCTATGTGTGACTATTTAACTTAAATTTTAACATAATTAAAATTAAATAAAATTTAGTTCCTCAATCATATAGTAACCACATCGCAAGTACCAGTAGCCACATATGACAATTACTTACTCTATTGGACAGCAGAGAGAGAAAATGTTCCTGTCATCACAGAAATACTGGGCAGCACTGCTAGAGACTGTTTGTTGCAGAGACCATTTCTTTACCTTTTCTTGCTCTTTCTCCCTTCATCAGGGTGTTTCACAGAATTTTCAGAAAAGGAGCAACAGAGGTAGAGATAAATTAACATGGAAACAATTCATTTTGCTATTTTGTTAGGTATTCTAATTAAGGAATGTCTTAGGCAGTAGATTGATCCCATAGAGTAAATGAAATTTTAAAATGTGGACAGTTCATTCAACTATTACTATTGACTATATTATCTGTTACTTTGGAAATTAATGATCAGTTAGTGTTTGTGTGTATTTGATTTGTAATGTTCATATTGCTCTCATTATTAGGTGATTTATAAAAACTGGTTGTTCCTCCATGGTGTTTTTGTCATGCTTAATTACAATAGGAAAAAGTTATATTTTTACGAAGCAAATGTGTGTACCTAA	TAGC	A31224599T	NF1	NM_000267.3(NF1):c.1846-496_2410-645delinsTAGC	noncoding	Pathogenic
17	31225098	GC	TA	G31225098T	NF1	NM_001042492.3(NF1):c.1849_1850delinsTA:p.Ala617Ter	coding	Pathogenic
17	31225099	CAGAT	C	T31225103A	NF1	NM_001042492.3(NF1):c.1854_1857del:p.Asp618fs	coding	Pathogenic
17	31225102	AT	A	T31225103A	NF1	NM_001042492.3(NF1):c.1854del:p.Asp618fs	coding	Pathogenic
17	31225105	GAAGTTCC	G	A31225106T	NF1	NM_000267.3(NF1):c.1857_1863del:p.Arg619fs	coding	Pathogenic
17	31225108	GT	G	T31225110C	NF1	NM_001042492.3(NF1):c.1861del:p.Ser621fs	coding	Pathogenic
17	31225110	TC	T	C31225112T	NF1	NM_000267.3(NF1):c.1863del:p.Cys622fs	coding	Pathogenic
17	31225116	CA	C	A31225117C	NF1	NM_001042492.3(NF1):c.1868del:p.His623fs	coding	Pathogenic
17	31225123	TC	T	C31225125T	NF1	NM_001042492.3(NF1):c.1876del:p.Leu626fs	coding	Pathogenic
17	31225125	C	CT	A31225132T	NF1	NM_000267.3(NF1):c.1882dup:p.Tyr628fs	coding	Pathogenic
17	31225132	AC	A	C31225133G	NF1	NM_001042492.3(NF1):c.1884del:p.Phe627_Tyr628insTer	coding	Pathogenic
17	31225132	ACG	CC	A31225132C	NF1	NM_000267.3(NF1):c.1883_1885delinsCC:p.Tyr628fs	coding	Pathogenic
17	31225133	CG	C	G31225137T	NF1	NM_001042492.3(NF1):c.1888del:p.Gly629_Val630insTer	coding	Pathogenic
17	31225143	TG	T	G31225144T	NF1	NM_001042492.3(NF1):c.1895del:p.Cys632fs	coding	Pathogenic
17	31225144	G	GT	G31225146T	NF1	NM_001042492.3(NF1):c.1896dup:p.Asp633Ter	coding	Pathogenic
17	31225166	T	TA	C31225168A	NF1	NM_000267.3(NF1):c.1918dup:p.Thr640fs	coding	Pathogenic
17	31225194	G	GAATTA	C31225200A	NF1	NM_001042492.3(NF1):c.1946_1950dup:p.Leu651fs	coding	Pathogenic
17	31225198	TA	T	A31225199C	NF1	NM_001042492.3(NF1):c.1950del:p.Leu650fs	coding	Pathogenic
17	31225202	AC	A	C31225203G	NF1	NM_001042492.3(NF1):c.1954del:p.Arg652fs	coding	Pathogenic
17	31225203	CG	C	G31225204T	NF1	NM_001042492.3(NF1):c.1955del:p.Arg652fs	coding	Pathogenic
17	31225203	CGT	C	G31225204A	NF1	NM_001042492.3(NF1):c.1955_1956del:p.Arg652fs	coding	Pathogenic
17	31225208	TC	T	C31225210T	NF1	NM_000267.3(NF1):c.1961del:p.Pro654fs	coding	Pathogenic
17	31225216	CCT	C	T31225222C	NF1	NM_001042492.2(NF1):c.1969_1970TC[2]:p.Leu658fs	coding	Pathogenic
17	31225235	AG	A	G31225238A	NF1	NM_001042492.3(NF1):c.1989del:p.Asn664fs	coding	Pathogenic
17	31225237	GGAACTCCTCTATGGTCAGCTTCTTCTGTACTTTTTCTGTATCATTTTATGTGCTCTGTTTGTTTTCTGAATGAAATTTGGTAAATTTCATCTAGGTAATATAGTGTAATAGTGAAAAACTGCTTAGAATCTAGTTCTATTACTGCTCTTTGTGGAACTTTGGGCAAGTTCTTAACATCCTTGTTCCTCAGTTCCTCAACTTTAAAATGGGGACAGTAATAGTTCCTGCCCCAGAGTTGTTAAAGAGGGTTAAATAAAAGGATGTGTAAATAGCACTTGACACTTACAAGCTATATCTGATAATTATAATTATTATAAACCTCCACTCCATAAAAAACCCATTCATACCACAGAAGTATAGAATTCGTACCGGCTAACAAAGGTACAGATTTACAGGGATAAAAACAAAGTATTTTGCTTCATGTTAAAGATAAGTGTTTCTGTGATTTGTGTTTGTGTGTATAATTTCTTTTAAATATAAATCATATTTCAAGTGAAAATATCACATCATTACAGAAGAGTTTATTTTCCAAACCAAAACTTTTTTCATTCCTAATTTTTAATGCAACCTTGTTAAGGAAGAAACACCTAAGCAGTATGATATTTACTAATGTCTGTTTTACTTGTAGAATTTGCATTTATTTTATCAATTATTTTCTCCATTTCGTGTTTGGAGAATAAGTAATTCAGAATCAAATGTATCTTCTACAGCAATATTTAGTTCTTGTTTATGCCCTTGTTTCAATGAGTGCTGCAGTGTACTTATTTTATTACTTCCCTATAGCAAGTAGATAGAATTTCCTGTTACTTCCTCTTTTTTTGTCATTTCTAATTGACTGGGAGGTACATTATATTGTTACTGCAGTAGATTTACGTTATGGTGTTTACCTGTCCATGTTAGAATCAGTTTACATTTCTGGAATCTGGAATAGGATAATATCTATTTGATTTGAAATTGAACAGATGGTAGCATTATGTTGGTCCAGATAATCTCATTTCTCATTTGGACAAGATATTTTGGGGTTTGAAAAATTCCTATAATGATTAAAGGAAAAAGCTCTTGTGAGTTATTGTATGCGGAGACACACACACACACACACACACACACACACACACACACACAGTTTATTGCATTGTTAGATTTTATACATAAAATTACCCAAGTTGCAAATATATGTCTTCCACCCTTGACTCTCAGGATAGTGCAGCAGGATGCAGCGGAACCCCCCCGATTTGCCGACAAGCCCAGACCAAACTAGAAGTGGCCCTGTACATGTTTCTGTGGAACCCTGACACTGAAGCTGTTCTGGTTGCCATGTCCTGTTTCCGCCACCTCTGTGAGGAAGCAGATATCCGGTGTGGGGTGGATGAAGTGTCAGTGCATAACCTCTTGCCCAACTATAACACATTCATGGAGTTTGCCTCTGTCAGCAATATGATGTCAACAGGTAAATGTGAATAGTGGTTTTTTTTACTCAGTCTGCCTCAAAGCACATGGCATCTGATTTTGAGAATGTATTTAAGGTCACTACTTTGTAAGTTTACAGGGGAAATTCAAGTAGCTTACTTGAAATCCTTTTCTGAACAAAGTAAGATGAAAATAAAAAGCATTTGAAATAAATTGTTAGTCTTCCACTGAGTTGTTAATATGCTATACATTTTAAAAATAACTGGCAGTAGATGTTACTATCAGTTATGATTATGTAATTTACTCTGCCTAAGTTGTAGATAGTGAAGTTTTACAAACATTGGCGTATGTTTTGAGTAAATTGTAGGTGGGAATAGCTATTTTATTCTGTGGACATTGTAGAGTCCAAGATAAGTACCTTTCCTGTGAGGTTAGTGAAAGGAAGTTTTTGGCTTTATCATTTGAAGCATTTGCTCTGCTCTTCCTACTCCTTTTGGGTGGAGCTTATCAGGTTCTCCATTGGCAGGCAGGGCTCTAAGTGCAGTAACTTGATTTGCTGTTGTATTTGCTTAGGAAGAGCAGCACTTCAGAAAAGAGTGATGGCACTGCTGAGGCGCATTGAGCATCCCACTGCAGGAAACACTGAGGTATGCCCTTAGCAACAGAAACACCCCTCCCAGGCGCCCACCCTCAATTTGGAAGCCTCTTGTTACATATGTGTGATCAGGAATAGCTTTTGAAGTAAATCCAAGATACGTGCATATTACAAGTATAATATCTGAGTATTTAATATACATCAAGTTTGAAACTTGGCTGTAGCTGATTGATGTTTAGCTCTAGACTAAGTTGCTTTCAAGTGATAATTGCCTTCATTTTAGGCTTGGGAAGATACACATGCAAAATGGGAACAAGCAACAAAGCTAATCCTTAACTATCCAAAAGCCAAAATGGAAGATGGCCAGGTAAGTCTGTAAAGTTGACTTTTGTCTGTTAACTGATCTGCTAAATATATGTACTTCACTTTGATAATCTTTCAAGAGTCGCTCAGTAAAGTAAACATATAGCTGTGTGAAGACTGATATTTAGTTGTGGTTTATCTAGACCTGTACTTTGTAATGTGGTAGCTACTAGCTATGTGTGACTATTTAACTTAAATTTTAACATAATTAAAATTAAATAAAATTTAGTTCCTCAATCATATAGTAACCACATCGCAAGTACCAGTAGCCACATATGACAATTACTTACTCTATTGGACAGCAGAGAGAGAAAATGTTCCTGTCATCACAGAAATACTGGGCAGCACTGCTAGAGACTGTTTGTTGCAGAGACCATTTCTTTACCTTTTCTTGCTCTTTCTCCCTTCATCAGGGTGTTTCACAGAATTTTCAGAAAAGGAGCAACAGAGGTAGAGATAAATTAACATGGAAACAATTCATTTTGCTATTTTGTTAGGTATTCTAATTAAGGAATGTCTTAGGCAGTAGATTGATCCCATAGAGTAAATGAAATTTTAAAATGTGGACAGTTCATTCAACTATTACTATTGACTATATTATCTGTTACTTTGGAAATTAATGATCAGTTAGTGTTTGTGTGTATTTGATTTGTAATGTTCATATTGCTCTCATTATTAGGTGATTTATAAAAACTGGTTGTTCCTCCATGGTGTTTTTGTCATGCTTAATTACAATAGGAAAAAGTTATATTTTTACGAAGCAAATGTGTGTACCTAATACCTTTATTTGGAGGGGACATGTAGCTTTAGAATGAAAGCTTTTGGGGGGATAACTGTTTTATATAATTACATACCATACAGTTCACCCATTTAAAGTGTCCAATTCAGTGACTGTTTTTAATGTATTCACAGAGTTGTGCAACCATCACCACAATCAAGTTTTAGAACAATTTCATCAATTGAGAAAAAAACCCCGTACCCTTTAGCTATCTCTGCCTCTAACCACCCCCCACCCACTTTCTTGCCTCTCTTCCCCCAACGTCTCTAGCCCTAGGCAACCATGAATCTACTTTCTGTCTTTGTAGATTTGCCTATTCCGGATATATTCTGTAAATGGAATTATAGAATATGTGGGCTTTTGTGATTAGCTTCTTTCACTTAGCATGATGTTTCCAAGGTTCATCCATGTGAAATCAAAACTTTTT	TGTC	G31225237T	NF1	NM_000267.3(NF1):c.1988_2410-218delinsTGTC	coding	Pathogenic
17	31225240	A	AC	T31225242C	NF1	NM_001042492.3(NF1):c.1992dup:p.Ser665fs	coding	Pathogenic
17	31225242	TC	T	C31225244T	NF1	NM_001042492.3(NF1):c.1995del:p.Ser666fs	coding	Pathogenic
17	31226459	A	AC	G31226467C	NF1	NM_000267.3(NF1):c.2033dup:p.Ile679fs	coding	Pathogenic
17	31226459	AC	A	C31226466G	NF1	NM_001042492.2(NF1):c.2033del:p.Pro678fs	coding	Pathogenic
17	31226466	CG	C	G31226467A	NF1	NM_000267.3(NF1):c.2034del:p.Ile679fs	coding	Pathogenic
17	31226467	G	CA	G31226467C	NF1	NM_000267.3(NF1):c.2034delinsCA:p.Ile679fs	coding	Pathogenic
17	31226472	GC	G	C31226474G	NF1	NM_000267.3(NF1):c.2041del:p.Arg681fs	coding	Pathogenic
17	31226476	A	ACAAGC	C31226483A	NF1	NM_000267.3(NF1):c.2045_2049dup:p.Gln684fs	coding	Pathogenic
17	31226476	A	ACAAGCCCAGAC	A31226491G	NF1	NM_001042492.3(NF1):c.2047_2057dup:p.Leu687fs	coding	Pathogenic
17	31226480	GCCCAGACCAAACTAGAAGTGGCCCTGTACATGTTT	G	C31226482T	NF1	NM_001042492.3(NF1):c.2049_2083del:p.Gln684fs	coding	Pathogenic
17	31226495	GA	G	A31226497G	NF1	NM_001042492.3(NF1):c.2064del:p.Val689fs	coding	Pathogenic
17	31226495	G	GA	G31226498A	NF1	NM_000267.3(NF1):c.2064dup:p.Val689fs	coding	Pathogenic
17	31226501	GC	G	C31226504T	NF1	NM_000267.3(NF1):c.2071del:p.Leu691fs	coding	Pathogenic
17	31226509	CAT	C	A31226510G	NF1	NM_000267.3(NF1):c.2077_2078del:p.Met693fs	coding	Pathogenic
17	31226517	TGTG	T	T31226519A	NF1	NM_001042492.3(NF1):c.2086_2088del:p.Trp696del	coding	Pathogenic
17	31226554	GT	G	T31226555C	NF1	NM_001042492.3(NF1):c.2122del:p.Ser708fs	coding	Pathogenic
17	31226562	TC	T	C31226564G	NF1	NM_001042492.3(NF1):c.2131del:p.Arg711fs	coding	Pathogenic
17	31226566	C	CCA	C31226570A	NF1	NM_000267.3(NF1):c.2135_2136dup:p.Leu713fs	coding	Pathogenic
17	31226568	ACCTCTGT	A	C31226569G	NF1	NM_000267.3(NF1):c.2136_2142del:p.His712fs	coding	Pathogenic
17	31226581	AG	A	G31226582C	NF1	NM_000267.3(NF1):c.2149del:p.Ala717fs	coding	Pathogenic
17	31226581	AGCAGATATCCG	TGAAGTGTCT	A31226581T	NF1	NM_001042492.2(NF1):c.2148_2159delinsTGAAGTGTCT:p.Glu716fs	coding	Pathogenic
17	31226589	T	TC	G31226592C	NF1	NM_001042492.3(NF1):c.2158dup:p.Arg720fs	coding	Pathogenic
17	31226596	TG	T	G31226600T	NF1	NM_000267.3(NF1):c.2167del:p.Val723fs	coding	Pathogenic
17	31226610	TG	T	G31226611T	NF1	NM_000267.3(NF1):c.2178del:p.Ser727fs	coding	Pathogenic
17	31226629	GC	G	C31226632A	NF1	NM_001042492.3(NF1):c.2199del:p.Asn734fs	coding	Pathogenic
17	31226638	TA	T	A31226640C	NF1	NM_001042492.3(NF1):c.2207del:p.Asn736fs	coding	Pathogenic
17	31226639	AAC	A	C31226643T	NF1	NM_001042492.2(NF1):c.2208_2209CA[1]:p.Thr737fs	coding	Pathogenic
17	31226641	CA	C	A31226642C	NF1	NM_001042492.3(NF1):c.2209del:p.Thr737fs	coding	Pathogenic
17	31226661	C	CT	G31226663T	NF1	NM_001042492.3(NF1):c.2229dup:p.Val744fs	coding	Pathogenic
17	31226668	CA	C	A31226670T	NF1	NM_000267.3(NF1):c.2237del:p.Asn746fs	coding	Pathogenic
17	31226676	T	TG	T31226678G	NF1	NM_001042492.3(NF1):c.2244dup:p.Ser749fs	coding	Pathogenic
17	31227145	G	GAGCTTATCAGGTTCTCCATTGGCAGGCAGGGCTCTAAGTGCAGTAACTTGATTTGCTGTTGTATTTGCTTAGGAAGAGCAGCACTTCAGAAAAGAGTGATGGCACTGCTGAGGCGCATTGAGCATCCCACTGCAGGAAACACTGAGGTATGCCCTTAGCAACAGAAACACCCCTCCCAGGCGCCCACCCTCAATTTGGAAGCCTCTTGTTACATATGTGTGATCAGGAATAGCTTTTGAAGTAAATCCAAGATACGTGCATATTACAAGTATAATATCTGAGTATTTAATATACATCAAGTTTGAAACTTGGCTGTAGCTGATTGATGTTTAGCTCT	A31227485C	NF1	NM_001042492.3(NF1):c.2252-70_2326-39dup	noncoding	Pathogenic
17	31227183	GTGCAGTAACTTGATTTGCTGTTGTAT	G	G31227185T	NF1	NM_001042492.3(NF1):c.2252-33_2252-8del	noncoding	Pathogenic
17	31227219	AAG	A	A31227222C	NF1	NM_001042492.3(NF1):c.2256_2257del:p.Arg752fs	coding	Pathogenic
17	31227234	GAA	G	A31227237G	NF1	NM_001042492.3(NF1):c.2271_2272del:p.Arg758fs	coding	Pathogenic
17	31227240	AGTGAT	A	T31227242G	NF1	NM_001042492.3(NF1):c.2276_2280del:p.Val759fs	coding	Pathogenic
17	31227241	GT	G	T31227242G	NF1	NM_001042492.3(NF1):c.2276del:p.Val759fs	coding	Pathogenic
17	31227257	GGC	G	G31227260A	NF1	NM_001042492.3(NF1):c.2292_2293GC[1]:p.Arg765fs	coding	Pathogenic
17	31227258	GC	G	C31227259G	NF1	NM_001042492.3(NF1):c.2293del:p.Arg765fs	coding	Pathogenic
17	31227259	CGCATTGA	C	T31227264C	NF1	NM_000267.3(NF1):c.2298_2304del:p.Glu767fs	coding	Pathogenic
17	31227284	A	AC	A31227286C	NF1	NM_001042492.3(NF1):c.2319dup:p.Thr774fs	coding	Pathogenic
17	31227287	CTG	C	T31227288A	NF1	NM_000267.3(NF1):c.2322_2323del:p.Glu775fs	coding	Pathogenic
17	31227527	GGGAAGATACACATGCAAAATGGGAACAAGCAACAA	G	G31227528A	NF1	NM_001042492.3(NF1):c.2331_2365del:p.Trp777_Lys789delinsTer	coding	Pathogenic
17	31227532	GATACAC	G	A31227535G	NF1	NM_000267.3(NF1):c.2338_2343del:p.Thr780_His781del	coding	Pathogenic
17	31227534	T	TA	C31227536A	NF1	NM_000267.3(NF1):c.2338dup:p.Thr780fs	coding	Pathogenic
17	31227542	CA	C	A31227546T	NF1	NM_000267.3(NF1):c.2349del:p.Lys783fs	coding	Pathogenic
17	31227544	A	AAATGGGAACAAGCAACAAAGCTAATCCTT	C31227576T	NF1	NM_001042492.3(NF1):c.2350_2378dup:p.Tyr794_Pro795insGlyAsnLysGlnGlnSerTer	coding	Pathogenic
17	31227547	T	TG	A31227551G	NF1	NM_001042492.3(NF1):c.2353dup:p.Glu785fs	coding	Pathogenic
17	31227548	GG	C	G31227548C	NF1	NM_001042492.2(NF1):c.2351_2352delinsC:p.Trp784fs	coding	Pathogenic
17	31227565	C	CTA	A31227568T	NF1	NM_001042492.3(NF1):c.2369_2370dup:p.Ile791Ter	coding	Pathogenic
17	31227576	CT	C	T31227577A	NF1	NM_000267.3(NF1):c.2380del:p.Tyr794fs	coding	Pathogenic
17	31227581	CA	C	A31227585G	NF1	NM_001042492.3(NF1):c.2388del:p.Ala797fs	coding	Pathogenic
17	31227581	C	CA	G31227586A	NF1	NM_000267.3(NF1):c.2388dup:p.Ala797fs	coding	Pathogenic
17	31227593	TG	T	G31227595A	NF1	NM_001042492.3(NF1):c.2398del:p.Glu800fs	coding	Pathogenic
17	31227607	GT	G	T31227608A	NF1	NM_000267.3(NF1):c.2409+2del	noncoding	Pathogenic
17	31228915	TTACATTTTTTGTACTTTTGTCATGGAAGAAATGTTGGATAAAGCATAATTTGTCAAGTCTCAACTAATTAAGGTTTAATTCATGCTTTGCACAAAAATTTTGTGTTTAGGCTGCTGAAAGCCTTCACAAGACCATTGTTAAGAGGCGAATGTCCCATGTGAGTGGAGGAGGATCCATAGATTTGTCTGACACAGACTCCCTACAGGAATGGATCAACATGACTGGCTTCCTTTGTGCCCTTGGGGGAGTGTGCCTCCAGCAGAGAAGCAATTCTGGCCTGGCAACCTATAGCCCACCCATGGGTCCAGTCAGTGAACGTAAGGGTTCTATGATTTCAGTGATGTCTTCAGAGGGAAACGCAGATACACCTGTCAGCAAATTTATGGATCGGCTGTTGTCCTTAATGGTGTGTAACCATGAGAAAGTGGGACTTCAAATACGGACCAATGTTAAGGATCTGGTGGGTCTAGAATTGAGTCCTGCTCTGTATCCAATGCTATTTAACAAATTGAAGAATACCATCAGCAAGTTTTTTGACTCCCAAGGACAGGTAAAGTGTTCTCTTATTTTTCACCTTTCTCTATGAATAGAGTGACTTGTTTGAAATAAGCCTTT	AAAA	T31228915A	NF1	NM_000267.3(NF1):c.2410-110_2850+65delinsAAAA	noncoding	Pathogenic
17	31229025	GC	G	C31229026T	NF1	NM_000267.3(NF1):c.2411del:p.Ala804fs	coding	Pathogenic
17	31229031	GA	G	A31229034G	NF1	NM_001042492.3(NF1):c.2419del:p.Ser807fs	coding	Pathogenic
17	31229037	CT	C	T31229039C	NF1	NM_000267.3(NF1):c.2424del:p.His809fs	coding	Pathogenic
17	31229039	TCACAAGACCATTGTTAAGAGGCGAATGTCCCATGTGAGTGGAGGAGGATCCATAGATTTGTCTGA	T	A31229044G	NF1	NM_001042492.3(NF1):c.2429_2493del:p.Lys810fs	coding	Pathogenic
17	31229048	CA	C	A31229049T	NF1	NM_000267.3(NF1):c.2434del:p.Ile812fs	coding	Pathogenic
17	31229054	T	TG	A31229055G	NF1	NM_001042492.3(NF1):c.2439_2440insG:p.Lys814fs	coding	Pathogenic
17	31229062	G	GA	T31229065A	NF1	NM_000267.3(NF1):c.2449dup:p.Met817fs	coding	Pathogenic
17	31229066	GT	G	T31229067C	NF1	NM_001042492.3(NF1):c.2452del:p.Ser818fs	coding	Pathogenic
17	31229067	TC	T	C31229070A	NF1	NM_000267.3(NF1):c.2455del:p.His819fs	coding	Pathogenic
17	31229072	TG	T	G31229073T	NF1	NM_001042492.3(NF1):c.2458del:p.His819_Val820insTer	coding	Pathogenic
17	31229094	GATTTGTCTGAC	G	T31229096C	NF1	NM_001042492.3(NF1):c.2481_2491del:p.Leu828fs	coding	Pathogenic
17	31229095	AT	A	T31229098G	NF1	NM_000267.3(NF1):c.2483del:p.Leu828fs	coding	Pathogenic
17	31229098	TGTCTGACACA	T	T31229100A	NF1	NM_001042492.3(NF1):c.2485_2494del:p.Ser829fs	coding	Pathogenic
17	31229133	A	ATGAC	G31229140A	NF1	NM_001042492.3(NF1):c.2521_2524dup:p.Gly842fs	coding	Pathogenic
17	31229138	TG	T	G31229140C	NF1	NM_001042492.3(NF1):c.2525del:p.Gly842fs	coding	Pathogenic
17	31229139	GGCTTCCT	AGCTTCCA	G31229139A	NF1	NM_001042492.3(NF1):c.2524_2531delinsAGCTTCCA:p.Gly842_Leu844delinsSerPheHis	coding	Pathogenic
17	31229151	G	GC	T31229155C	NF1	NM_001042492.3(NF1):c.2539dup:p.Leu847fs	coding	Pathogenic
17	31229156	T	TG	A31229162G	NF1	NM_001042492.3(NF1):c.2546dup:p.Val850fs	coding	Pathogenic
17	31229156	T	TGG	A31229162G	NF1	NM_000267.3(NF1):c.2545_2546dup:p.Val850fs	coding	Pathogenic
17	31229203	ATAGC	A	T31229204C	NF1	NM_000267.3(NF1):c.2589_2592del:p.Ser864fs	coding	Pathogenic
17	31229210	A	ACCCAT	G31229216C	NF1	NM_001042492.3(NF1):c.2596_2600dup:p.Met867fs	coding	Pathogenic
17	31229218	G	GT	C31229220T	NF1	NM_000267.3(NF1):c.2604dup:p.Pro869fs	coding	Pathogenic
17	31229232	C	CGTAA	G31229238T	NF1	NM_001042492.3(NF1):c.2619_2622dup:p.Gly875Ter	coding	Pathogenic
17	31229233	G	GT	A31229235T	NF1	NM_000267.3(NF1):c.2619dup:p.Lys874Ter	coding	Pathogenic
17	31229235	A	AAGGGTTCTATGATT	T31229250A	NF1	NM_001042492.3(NF1):c.2621_2634dup:p.Ser879delinsArgValLeuTer	coding	Pathogenic
17	31229235	AAGGGTTCT	A	G31229237T	NF1	NM_000267.3(NF1):c.2622_2629del:p.Lys874fs	coding	Pathogenic
17	31229237	G	GA	G31229238A	NF1	NM_000267.3(NF1):c.2622_2623insA:p.Gly875fs	coding	Pathogenic
17	31229279	T	TA	C31229281A	NF1	NM_000267.3(NF1):c.2665dup:p.Thr889fs	coding	Pathogenic/Likely_pathogenic
17	31229280	ACACCTGTCAG	A	C31229283A	NF1	NM_000267.3(NF1):c.2668_2677del:p.Pro890fs	coding	Pathogenic
17	31229288	CA	C	A31229289G	NF1	NM_000267.3(NF1):c.2674del:p.Ser892fs	coding	Pathogenic
17	31229291	CA	C	A31229294T	NF1	NM_001042492.3(NF1):c.2679del:p.Lys893fs	coding	Pathogenic
17	31229309	G	GTTGTCCTTAATGGTGTGTAACCATGAGAAAGTGGGACTTCAAAT	A31229354T	NF1	NM_000267.3(NF1):c.2695_2738dup:p.Arg914_Thr915insCysProTer	coding	Pathogenic
17	31229324	G	GT	G31229326T	NF1	NM_000267.3(NF1):c.2710dup:p.Cys904fs	coding	Pathogenic
17	31229336	G	GA	G31229340A	NF1	NM_001042492.3(NF1):c.2724dup:p.Val909fs	coding	Pathogenic
17	31229341	TGG	T	G31229343A	NF1	NM_001042492.3(NF1):c.2728_2729del:p.Gly910fs	coding	Pathogenic
17	31229341	T	TG	A31229345G	NF1	NM_000267.3(NF1):c.2729dup:p.Leu911fs	coding	Pathogenic
17	31229362	A	AT	G31229364T	NF1	NM_001042492.3(NF1):c.2748dup:p.Val917fs	coding	Pathogenic
17	31229366	TA	T	A31229368G	NF1	NM_000267.3(NF1):c.2753del:p.Lys918fs	coding	Pathogenic
17	31229377	TG	T	G31229380T	NF1	NM_001042492.3(NF1):c.2765del:p.Gly922fs	coding	Pathogenic
17	31229414	A	ATG	T31229416G	NF1	NM_001042492.3(NF1):c.2800_2801insGT:p.Phe934fs	coding	Pathogenic
17	31229414	AT	A	T31229417A	NF1	NM_000267.3(NF1):c.2802del:p.Phe934fs	coding	Pathogenic
17	31229423	AT	A	T31229425G	NF1	NM_001042492.3(NF1):c.2810del:p.Lys936_Leu937insTer	coding	Pathogenic
17	31229433	ACCATCAG	A	C31229435A	NF1	NM_001042492.3(NF1):c.2820_2826del:p.Ile941fs	coding	Pathogenic
17	31229438	CA	C	A31229439G	NF1	NM_001042492.3(NF1):c.2824del:p.Ser942fs	coding	Pathogenic
17	31229444	G	GT	G31229451T	NF1	NM_001042492.3(NF1):c.2835dup:p.Asp946Ter	coding	Pathogenic
17	31229454	TC	T	C31229457A	NF1	NM_001042492.3(NF1):c.2842del:p.Gln948fs	coding	Pathogenic
17	31229462	AC	A	C31229463A	NF1	NM_000267.3(NF1):c.2848del:p.Gln950fs	coding	Pathogenic
17	31229679	T	TGGGTACGAGTGTCTGCGTATATCTGTATGCTTATTTGGCTCTATGCCTGTGGGTGCACTTACTCTGTGTGTTTAGATCAGTCAGTTTCATCTCTCTAGGGGGTCTGTCTTCTGGGCATTGATGGCAAATCATTAATGTATTTGTTCTTTCTTTAGGTTTTATTGACTGATACCAATACTCAATTTGTAGAACAAACCATAGCTATAATGAAGAACTTGCTAGATAATCATACTGAAGGCAGCTCTGAACATCTAGGGCAAGCTAGCATTGAAACAATGATGTTAAATCTGGTCAGGTAAGCATTCTACTGAAATGTAGCAGAAACATTTTAAGAGATAAGAAAAACCTCTTACACACTGATACTGGTAGTAATTGATAAAATAACTGGCCATTCTTTACTGCACACAAACTA	G31230096A	NF1	NM_000267.3(NF1):c.2851-151_2990+121dup	noncoding	Pathogenic
17	31229849	T	TA	C31229851A	NF1	NM_000267.3(NF1):c.2866dup:p.Thr956fs	coding	Pathogenic
17	31229852	CA	C	A31229854T	NF1	NM_000267.3(NF1):c.2870del:p.Asn957fs	coding	Pathogenic
17	31229866	TA	T	A31229867G	NF1	NM_001042492.3(NF1):c.2883del:p.Glu962fs	coding	Pathogenic
17	31229871	CA	C	A31229874C	NF1	NM_000267.3(NF1):c.2890del:p.Thr964fs	coding	Pathogenic
17	31229874	A	AC	A31229877C	NF1	NM_001042492.3(NF1):c.2892dup:p.Ile965fs	coding	Pathogenic
17	31229883	A	AT	A31229885T	NF1	NM_001042492.3(NF1):c.2900dup:p.Met968fs	coding	Pathogenic
17	31229917	GC	G	C31229918A	NF1	NM_000267.3(NF1):c.2934del:p.Ser979fs	coding	Pathogenic
17	31229929	ATC	A	C31229931A	NF1	NM_000267.3(NF1):c.2947_2948del:p.Leu983fs	coding	Pathogenic
17	31229930	TC	T	C31229931T	NF1	NM_001042492.3(NF1):c.2947del:p.His982_Leu983insTer	coding	Pathogenic
17	31229933	AG	A	G31229936C	NF1	NM_000267.3(NF1):c.2952del:p.Gln985fs	coding	Pathogenic
17	31229951	A	AAC	A31229955C	NF1	NM_000267.3(NF1):c.2969_2970dup:p.Met991fs	coding	Pathogenic
17	31229953	CAA	C	A31229954T	NF1	NM_000267.3(NF1):c.2970_2971del:p.Met991fs	coding	Pathogenic
17	31229953	CAAT	C	A31229954G	NF1	NM_000267.3(NF1):c.2970_2972del:p.Met992del	coding	Pathogenic
17	31230248	AT	A	T31230249G	NF1	NM_001042492.3(NF1):c.2991-11del	noncoding	Pathogenic
17	31230276	GG	TA	G31230276T	NF1	NM_001042492.3(NF1):c.3007_3008delinsTA:p.Gly1003Ter	coding	Pathogenic
17	31230294	AT	A	T31230296C	NF1	NM_000267.3(NF1):c.3027del:p.Gln1010fs	coding	Pathogenic
17	31230301	TA	T	A31230306C	NF1	NM_000267.3(NF1):c.3037del:p.Thr1013fs	coding	Pathogenic
17	31230311	AC	A	C31230312T	NF1	NM_000267.3(NF1):c.3043del:p.Leu1015fs	coding	Pathogenic
17	31230312	CTG	C	G31230316C	NF1	NM_001042492.3(NF1):c.3045_3046GT[1]:p.Cys1016fs	coding	Pathogenic
17	31230318	CA	C	A31230320T	NF1	NM_001042492.3(NF1):c.3051del:p.Gln1017fs	coding	Pathogenic
17	31230326	TG	T	G31230327A	NF1	NM_001042492.3(NF1):c.3058del:p.Glu1020fs	coding	Pathogenic
17	31230327	GA	G	A31230329G	NF1	NM_000267.3(NF1):c.3060del:p.Glu1020_Val1021insTer	coding	Pathogenic
17	31230331	TA	T	A31230333T	NF1	NM_000267.3(NF1):c.3064del:p.Val1021_Met1022insTer	coding	Pathogenic
17	31230342	A	AGGAGAGATGACCTCTCATTTTGC	C31230366G	NF1	NM_000267.3(NF1):c.3074_3096dup:p.Gln1033fs	coding	Pathogenic
17	31230342	AG	A	G31230344A	NF1	NM_000267.3(NF1):c.3075del:p.Arg1026fs	coding	Pathogenic
17	31230353	C	CCT	A31230359T	NF1	NM_001042492.3(NF1):c.3086_3087TC[3]:p.Phe1031fs	coding	Pathogenic
17	31230359	A	AT	G31230364T	NF1	NM_000267.3(NF1):c.3094dup:p.Cys1032fs	coding	Pathogenic
17	31230377	A	AT	A31230381T	NF1	NM_000267.3(NF1):c.3111dup:p.Arg1038Ter	coding	Pathogenic
17	31230377	AT	A	T31230380A	NF1	NM_000267.3(NF1):c.3111del:p.Phe1037fs	coding	Pathogenic
17	31230865	CAG	C	G31230867C	NF1	NM_000267.3(NF1):c.3139_3140del:p.Asp1047fs	coding	Pathogenic
17	31230885	TCAAAC	T	A31230889G	NF1	NM_000267.3(NF1):c.3161_3165del:p.Asn1054fs	coding	Pathogenic
17	31230910	T	TA	T31230915A	NF1	NM_001042492.3(NF1):c.3186dup:p.Cys1063fs	coding	Pathogenic
17	31230915	T	TTA	G31230916T	NF1	NM_001042492.3(NF1):c.3187_3188insTA:p.Cys1063fs	coding	Pathogenic
17	31230927	T	TA	G31230935A	NF1	NM_001042492.3(NF1):c.3197+9dup	noncoding	Benign/Likely_benign
17	31232043	A	AT	C31232070T	NF1	NM_001042492.3(NF1):c.3198-4dup	noncoding	Benign
17	31232043	ATT	A	T31232068C	NF1	NM_001042492.3(NF1):c.3198-5_3198-4del	noncoding	Benign
17	31232069	T	TC	A31232071C	NF1	NM_000267.3(NF1):c.3198-3dup	noncoding	Benign
17	31232082	CC	TT	C31232082T	NF1	NM_001042492.3(NF1):c.3207_3208delinsTT:p.Gln1070Ter	coding	Pathogenic
17	31232086	GC	G	C31232087A	NF1	NM_001042492.3(NF1):c.3212del:p.Ala1071fs	coding	Pathogenic
17	31232087	C	CA	G31232090A	NF1	NM_000267.3(NF1):c.3214dup:p.Ser1072fs	coding	Pathogenic
17	31232089	AGC	A	G31232090A	NF1	NM_001042492.3(NF1):c.3215_3216del:p.Ser1072fs	coding	Pathogenic
17	31232092	AT	TTCC	A31232092T	NF1	NM_001042492.3(NF1):c.3217_3218delinsTTCC:p.Met1073fs	coding	Pathogenic
17	31232101	G	GT	A31232103T	NF1	NM_001042492.3(NF1):c.3227dup:p.Val1077fs	coding	Pathogenic
17	31232117	CT	C	T31232118G	NF1	NM_001042492.3(NF1):c.3243del:p.Gly1082fs	coding	Pathogenic
17	31232123	T	TCC	T31232127C	NF1	NM_000267.3(NF1):c.3250_3251dup:p.Gln1086fs	coding	Pathogenic
17	31232135	C	CT	G31232137T	NF1	NM_000267.3(NF1):c.3261dup:p.Glu1088Ter	coding	Pathogenic
17	31232136	TGA	T	G31232137A	NF1	NM_001042492.3(NF1):c.3262_3263del:p.Glu1088fs	coding	Pathogenic
17	31232145	A	AC	G31232146C	NF1	NM_001042492.3(NF1):c.3270_3271insC:p.Asp1091fs	coding	Pathogenic
17	31232150	GT	G	T31232151G	NF1	NM_001042492.3(NF1):c.3276del:p.Val1093fs	coding	Pathogenic
17	31232173	TCA	T	C31232176G	NF1	NM_001042492.2(NF1):c.3299_3300CA[1]:p.Gln1101fs	coding	Pathogenic/Likely_pathogenic
17	31232709	ATTAT	A	T31232714G	NF1	NM_001042492.3(NF1):c.3329_3332del:p.Leu1109_Phe1110insTer	coding	Pathogenic
17	31232715	TA	T	A31232716T	NF1	NM_001042492.3(NF1):c.3331del:p.Phe1110_Met1111insTer	coding	Pathogenic
17	31232752	G	GA	G31232756A	NF1	NM_001042492.3(NF1):c.3370dup:p.Ser1124fs	coding	Pathogenic
17	31232764	A	AC	A31232766C	NF1	NM_001042492.3(NF1):c.3380dup:p.Gly1128fs	coding	Pathogenic
17	31232764	AC	A	C31232765A	NF1	NM_001042492.3(NF1):c.3380del:p.Thr1127fs	coding	Pathogenic
17	31232765	CAG	C	A31232766G	NF1	NM_001042492.3(NF1):c.3381_3382del:p.Gly1128fs	coding	Pathogenic
17	31232768	GT	G	T31232769G	NF1	NM_000267.3(NF1):c.3384del:p.Gly1129fs	coding	Pathogenic
17	31232776	AAACGTGGCAT	A	A31232777G	NF1	NM_001042492.3(NF1):c.3392_3401del:p.Lys1131fs	coding	Pathogenic
17	31232785	A	ATGTC	C31232791G	NF1	NM_000267.3(NF1):c.3402_3405dup:p.Arg1136fs	coding	Pathogenic
17	31232813	A	ACTGT	A31232818C	NF1	NM_000267.3(NF1):c.3429_3432dup:p.Thr1145fs	coding	Pathogenic
17	31232814	C	CTG	A31232818G	NF1	NM_000267.3(NF1):c.3431_3432dup:p.Thr1145fs	coding	Pathogenic
17	31232827	GC	G	C31232828A	NF1	NM_001042492.3(NF1):c.3443del:p.Ala1148fs	coding	Pathogenic
17	31232830	A	ATG	C31232834G	NF1	NM_000267.3(NF1):c.3447_3448dup:p.Ser1150fs	coding	Pathogenic
17	31232834	C	CA	C31232838A	NF1	NM_001042492.3(NF1):c.3452dup:p.Asn1151fs	coding	Pathogenic
17	31232840	TACTC	T	C31232842A	NF1	NM_000267.3(NF1):c.3457_3460del:p.Leu1153fs	coding	Pathogenic
17	31232840	T	TA	C31232842A	NF1	NM_001042492.3(NF1):c.3456dup:p.Leu1153fs	coding	Pathogenic
17	31232844	C	CA	T31232847A	NF1	NM_001042492.3(NF1):c.3461dup:p.Asn1154fs	coding	Pathogenic
17	31232868	C	CA	T31232870A	NF1	NM_000267.3(NF1):c.3484dup:p.Met1162fs	coding	Pathogenic
17	31233000	AG	A	G31233002C	NF1	NM_000267.3(NF1):c.3497delG	noncoding	Pathogenic
17	31233008	G	GT	A31233011T	NF1	NM_001042492.3(NF1):c.3505dup:p.Tyr1169fs	coding	Pathogenic
17	31233017	AG	A	G31233019A	NF1	NM_000267.3(NF1):c.3514del:p.Asp1172fs	coding	Pathogenic
17	31233029	CAA	C	A31233030G	NF1	NM_000267.3(NF1):c.3525_3526del:p.Arg1176fs	coding	Pathogenic
17	31233039	AT	A	T31233042A	NF1	NM_000267.3(NF1):c.3537del:p.Phe1179fs	coding	Pathogenic
17	31233070	CA	C	A31233072G	NF1	NM_000267.3(NF1):c.3567del:p.Gly1190fs	coding	Pathogenic
17	31233078	AG	CT	A31233078C	NF1	NM_001042492.3(NF1):c.3573_3574inv:p.Glu1192Ter	coding	Pathogenic
17	31233085	GAC	G	A31233090T	NF1	NM_001042492.3(NF1):c.3585_3586del:p.Leu1196fs	coding	Pathogenic
17	31233095	C	CA	G31233097A	NF1	NM_000267.3(NF1):c.3591dup:p.Glu1198fs	coding	Pathogenic
17	31233107	TG	T	G31233109C	NF1	NM_001042492.3(NF1):c.3604del:p.Ala1202fs	coding	Pathogenic
17	31233143	CAAT	C	A31233144G	NF1	NM_000267.3(NF1):c.3639_3641del:p.Met1215del	coding	Pathogenic
17	31233161	G	GA	G31233163A	NF1	NM_000267.3(NF1):c.3657dup:p.Glu1220fs	coding	Pathogenic
17	31233162	A	AGTTT	A31233164T	NF1	NM_001042492.3(NF1):c.3658_3659insTTTG:p.Glu1220delinsValTer	coding	Pathogenic
17	31233167	TC	T	C31233170T	NF1	NM_000267.3(NF1):c.3665del:p.Pro1222fs	coding	Pathogenic
17	31233181	G	GC	T31233183C	NF1	NM_000267.3(NF1):c.3677dup:p.Leu1227fs	coding	Pathogenic
17	31233189	CA	C	A31233191T	NF1	NM_000267.3(NF1):c.3686del:p.Asn1229fs	coding	Pathogenic
17	31233192	TGTGGTTCCTTGTTCTCA	T	T31233197G	NF1	NM_000267.3(NF1):c.3692_3708del:p.Val1231fs	coding	Pathogenic
17	31233198	TC	T	C31233200T	NF1	NM_000267.3(NF1):c.3695del:p.Pro1232fs	coding	Pathogenic
17	31235632	G	GT	A31235635T	NF1	NM_000267.3(NF1):c.3732dup:p.Thr1245fs	coding	Pathogenic
17	31235633	TTACTCTGTTTG	T	T31235634A	NF1	NM_000267.3(NF1):c.3732_3742del:p.Thr1245fs	coding	Pathogenic
17	31235638	C	CT	G31235640T	NF1	NM_000267.3(NF1):c.3737dup:p.Phe1247fs	coding	Pathogenic
17	31235638	CTGTT	C	T31235641A	NF1	NM_000267.3(NF1):c.3739_3742del:p.Phe1247fs	coding	Pathogenic
17	31235657	TACTCTACCAACTGCTCTGGAACATGTTTTCTAAAGAAGTAG	T	C31235659A	NF1	NM_000267.3(NF1):c.3757_3797del:p.Leu1253fs	coding	Pathogenic
17	31235677	AAC	A	C31235679T	NF1	NM_001042492.3(NF1):c.3777_3778del:p.Met1260fs	coding	Pathogenic
17	31235679	CATGT	C	A31235680T	NF1	NM_001042492.3(NF1):c.3778_3781del:p.Met1260fs	coding	Pathogenic
17	31235679	CATGTT	C	A31235680T	NF1	NM_000267.3(NF1):c.3778_3782del:p.Met1260fs	coding	Pathogenic
17	31235682	GT	G	T31235686C	NF1	NM_000267.3(NF1):c.3784del:p.Ser1262fs	coding	Pathogenic
17	31235703	GGCAGACTCCAT	G	C31235712T	NF1	NM_001042492.3(NF1):c.3810_3820del:p.Met1271fs	coding	Pathogenic
17	31235719	ACT	A	C31235724T	NF1	NM_000267.3(NF1):c.3822_3823del	coding	Pathogenic
17	31235722	C	CT	C31235724T	NF1	NM_000267.3(NF1):c.3821dup:p.Phe1275fs	coding	Pathogenic
17	31235726	TC	T	C31235728G	NF1	NM_001042492.3(NF1):c.3826del:p.Arg1276fs	coding	Pathogenic
17	31235753	TA	T	A31235755T	NF1	NM_001042492.3(NF1):c.3853del:p.Ile1284_Met1285insTer	coding	Pathogenic
17	31235765	G	GT	C31235769T	NF1	NM_001042492.3(NF1):c.3866dup:p.Lys1290fs	coding	Pathogenic
17	31235769	CA	C	A31235771G	NF1	NM_001042492.3(NF1):c.3869del:p.Lys1290fs	coding	Pathogenic
17	31235919	T	TATA	T31235923A	NF1	NM_001042492.3(NF1):c.3873_3875dup:p.Tyr1292Ter	coding	Pathogenic
17	31235927	GCTAC	G	C31235931T	NF1	NM_001042492.3(NF1):c.3884_3887del:p.Thr1295fs	coding	Pathogenic
17	31235939	CA	C	A31235944C	NF1	NM_000267.3(NF1):c.3897del:p.Lys1299fs	coding	Pathogenic
17	31235949	T	TTTATTACGAATTG	G31235950T	NF1	NM_000267.3(NF1):c.3902_3903insTTATTACGAATTG:p.Asp1302fs	coding	Pathogenic
17	31235955	CT	C	T31235958A	NF1	NM_000267.3(NF1):c.3911del:p.Leu1304fs	coding	Pathogenic
17	31235972	AT	A	T31235973C	NF1	NM_001042492.3(NF1):c.3926del:p.Ile1309fs	coding	Pathogenic
17	31235994	A	AT	G31235996T	NF1	NM_000267.3(NF1):c.3948dup:p.Val1317fs	coding	Pathogenic
17	31236009	TG	T	G31236011A	NF1	NM_001042492.3(NF1):c.3964del:p.Asp1322fs	coding	Pathogenic
17	31249007	AG	A	G31249009A	NF1	NM_000267.3(NF1):c.4000del:p.Glu1334fs	coding	Pathogenic
17	31249021	AACCTCCTTCAGATG	A	C31249024T	NF1	NM_001042492.3(NF1):c.4015_4028del:p.Asn1338_Leu1339insTer	coding	Pathogenic
17	31249027	CT	C	T31249029C	NF1	NM_000267.3(NF1):c.4020del:p.Gln1341fs	coding	Pathogenic
17	31249039	GA	G	A31249043G	NF1	NM_001042492.3(NF1):c.4034del:p.Lys1345fs	coding	Pathogenic
17	31249049	TC	T	C31249051A	NF1	NM_001042492.3(NF1):c.4042del:p.His1348fs	coding	Pathogenic
17	31249052	AT	A	T31249053G	NF1	NM_000267.3(NF1):c.4044del:p.His1348fs	coding	Pathogenic
17	31249059	C	CA	T31249061A	NF1	NM_001042492.3(NF1):c.4051dup:p.Ile1351fs	coding	Pathogenic
17	31249069	TC	T	C31249071T	NF1	NM_001042492.3(NF1):c.4062del:p.Ser1355fs	coding	Pathogenic
17	31249073	CA	C	A31249074G	NF1	NM_001042492.3(NF1):c.4065del:p.Glu1356fs	coding	Pathogenic
17	31249075	GA	G	A31249077T	NF1	NM_001042492.3(NF1):c.4068del:p.Glu1356fs	coding	Pathogenic
17	31249076	AAT	A	A31249077T	NF1	NM_000267.3(NF1):c.4068_4069del:p.Glu1356fs	coding	Pathogenic
17	31249077	AT	A	T31249079C	NF1	NM_000267.3(NF1):c.4070del:p.Phe1357fs	coding	Pathogenic
17	31249079	TC	T	C31249085T	NF1	NM_000267.3(NF1):c.4076del:p.Pro1359fs	coding	Pathogenic
17	31249079	T	TC	T31249086C	NF1	NM_001042492.3(NF1):c.4076dup:p.Gln1360fs	coding	Pathogenic
17	31249104	C	CTG	C31249105T	NF1	NM_000267.3(NF1):c.4095_4096insTG:p.His1366fs	coding	Pathogenic
17	31249115	AC	A	C31249117A	NF1	NM_001042492.3(NF1):c.4108del:p.Gln1370fs	coding	Pathogenic
17	31258346	G	GT	G31258347T	NF1	NM_001042492.3(NF1):c.4176_4177insT:p.Val1393fs	coding	Pathogenic
17	31258397	GT	G	T31258399C	NF1	NM_000267.3(NF1):c.4166del:p.Phe1389fs	coding	Pathogenic
17	31258406	AT	A	T31258409A	NF1	NM_001042492.3(NF1):c.4239del:p.Phe1413fs	coding	Pathogenic
17	31258422	AT	A	T31258424G	NF1	NM_000267.3(NF1):c.4191del:p.Ile1397fs	coding	Pathogenic
17	31258428	TCA	T	A31258430C	NF1	NM_000267.3(NF1):c.4197_4198del:p.Pro1400fs	coding	Pathogenic
17	31258430	AC	A	C31258432G	NF1	NM_000267.3(NF1):c.4199del:p.Pro1400fs	coding	Pathogenic
17	31258432	CG	C	G31258433T	NF1	NM_000267.3(NF1):c.4200del:p.Tyr1401fs	coding	Pathogenic
17	31258435	A	AT	G31258437T	NF1	NM_000267.3(NF1):c.4203dup:p.Glu1402Ter	coding	Pathogenic
17	31258442	A	AG	A31258446G	NF1	NM_001042492.3(NF1):c.4275dup:p.Ile1426fs	coding	Pathogenic
17	31258461	C	CCA	C31258465A	NF1	NM_000267.3(NF1):c.4230_4231dup:p.Pro1411fs	coding	Pathogenic
17	31258466	AC	A	C31258468T	NF1	NM_001042492.3(NF1):c.4298del:p.Pro1433fs	coding	Pathogenic
17	31258492	TA	T	A31258494T	NF1	NM_000267.3(NF1):c.4261del:p.Met1421fs	coding	Pathogenic
17	31258501	AG	A	G31258503T	NF1	NM_000267.3(NF1):c.4269+1del	coding	Pathogenic
17	31259029	TA	T	A31259030G	NF1	NM_000267.3(NF1):c.4270-2del	noncoding	Pathogenic
17	31259031	GA	G	A31259032T	NF1	NM_001042492.3(NF1):c.4333del:p.Ile1445fs	coding	Pathogenic
17	31259035	CT	C	T31259037C	NF1	NM_001042492.3(NF1):c.4338del:p.Gln1447fs	coding	Pathogenic
17	31259039	AG	CA	A31259039C	NF1	NM_001042492.3(NF1):c.4340_4341delinsCA:p.Gln1447Pro	coding	Pathogenic
17	31259077	C	CAT	G31259082A	NF1	NM_000267.3(NF1):c.4316_4317AT[3]:p.Met1440fs	coding	Pathogenic
17	31259078	A	AT	A31259080T	NF1	NM_000267.3(NF1):c.4317dup:p.Met1440fs	coding	Pathogenic
17	31259079	T	TA	T31259081A	NF1	NM_001042492.3(NF1):c.4381dup:p.Met1461fs	coding	Pathogenic
17	31259102	TG	T	G31259103A	NF1	NM_001042492.3(NF1):c.4404del:p.Ser1470fs	coding	Pathogenic
17	31260369	G	GT	C31260375T	NF1	NM_000267.3(NF1):c.4373dup:p.Leu1459fs	coding	Pathogenic
17	31260369	GT	G	T31260374C	NF1	NM_001042492.3(NF1):c.4436del:p.Phe1479fs	coding	Pathogenic
17	31260374	TC	T	C31260376T	NF1	NM_000267.3(NF1):c.4375del:p.Asp1460fs	coding	Pathogenic
17	31260392	AT	A	T31260394G	NF1	NM_000267.3(NF1):c.4393del:p.Cys1465fs	coding	Pathogenic
17	31260396	TC	T	C31260398T	NF1	NM_000267.3(NF1):c.4397del:p.Pro1466fs	coding	Pathogenic
17	31260400	AC	A	C31260401A	NF1	NM_001042492.3(NF1):c.4463del:p.Thr1488fs	coding	Pathogenic
17	31260418	CA	C	A31260419T	NF1	NM_001042492.3(NF1):c.4481del:p.His1494fs	coding	Pathogenic
17	31260418	CAT	C	T31260420G	NF1	NM_000267.3(NF1):c.4419_4420del:p.His1473fs	coding	Pathogenic
17	31260420	T	TA	G31260422A	NF1	NM_000267.3(NF1):c.4420dup:p.Ser1474fs	coding	Pathogenic
17	31260433	A	TG	A31260433T	NF1	NM_000267.3(NF1):c.4432delinsTG:p.Ile1478fs	coding	Pathogenic
17	31260458	T	TA	C31260460A	NF1	NM_001042492.3(NF1):c.4521dup:p.His1508fs	coding	Pathogenic
17	31260463	CG	C	G31260464T	NF1	NM_000267.3(NF1):c.4463del:p.Arg1488fs	coding	Pathogenic
17	31260502	C	CT	C31260506T	NF1	NM_001042492.3(NF1):c.4567dup:p.Ser1523fs	coding	Pathogenic
17	31260510	C	CA	C31260513A	NF1	NM_000267.3(NF1):c.4511dup:p.Asn1504fs	coding	Pathogenic
17	31261690	TAAG	T	A31261691T	NF1	NM_001042492.3(NF1):c.4578-20_4578-18del	noncoding	Pathogenic
17	31261696	G	GT	G31261700T	NF1	NM_001042492.3(NF1):c.4578-12dup	noncoding	Benign
17	31261707	CT	C	T31261708A	NF1	NM_001042492.3(NF1):c.4578-3del	noncoding	Pathogenic
17	31261709	AG	A	G31261712A	NF1	NM_000267.3(NF1):c.4516del	noncoding	Pathogenic
17	31261713	AT	A	T31261714C	NF1	NM_001042492.3(NF1):c.4581del:p.His1528fs	coding	Pathogenic
17	31261722	CT	C	T31261723G	NF1	NM_001042492.3(NF1):c.4590del:p.Val1531fs	coding	Pathogenic
17	31261730	AG	A	G31261731A	NF1	NM_000267.3(NF1):c.4535del:p.Arg1512fs	coding	Pathogenic
17	31261749	TG	T	G31261751C	NF1	NM_001042492.3(NF1):c.4618del:p.Ala1540fs	coding	Pathogenic
17	31261749	T	TGGCAACACTTCTTG	C31261764G	NF1	NM_000267.3(NF1):c.4554_4567dup:p.Ala1523fs	coding	Pathogenic
17	31261754	A	AG	C31261755G	NF1	NM_001042492.3(NF1):c.4621_4622insG:p.Thr1541fs	coding	Pathogenic
17	31261759	TC	T	C31261760T	NF1	NM_000267.3(NF1):c.4564del:p.Ala1523fs	coding	Pathogenic
17	31261763	GC	G	C31261764A	NF1	NM_001042492.3(NF1):c.4631del:p.Ala1544fs	coding	Pathogenic
17	31261794	TG	T	G31261796C	NF1	NM_000267.3(NF1):c.4600del:p.Ala1534fs	coding	Pathogenic
17	31261801	TA	T	A31261802C	NF1	NM_001042492.3(NF1):c.4669del:p.Thr1557fs	coding	Pathogenic
17	31261801	T	TA	C31261803A	NF1	NM_000267.3(NF1):c.4606dup:p.Thr1536fs	coding	Pathogenic/Likely_pathogenic
17	31261801	T	TAC	T31261808A	NF1	NM_001042492.3(NF1):c.4673_4674dup:p.Trp1559fs	coding	Pathogenic
17	31261815	GC	G	C31261817T	NF1	NM_000267.3(NF1):c.4621del:p.Asn1542fs	coding	Pathogenic
17	31261833	CA	C	A31261836G	NF1	NM_000267.3(NF1):c.4640del:p.Lys1547fs	coding	Pathogenic
17	31261833	C	CA	G31261837A	NF1	NM_000267.3(NF1):c.4640dup:p.Phe1548fs	coding	Pathogenic
17	31265242	GAAAAAGA	AAAAAGG	G31265242A	NF1	NM_000267.3(NF1):c.4675_4682delinsAAAAAGG:p.Glu1559fs	coding	Pathogenic
17	31265242	G	GA	G31265248A	NF1	NM_000267.3(NF1):c.4680dup:p.Glu1561fs	coding	Pathogenic
17	31265246	AAG	A	G31265248A	NF1	NM_000267.3(NF1):c.4681_4682del:p.Glu1561fs	coding	Pathogenic/Likely_pathogenic
17	31265249	A	AAG	A31265253G	NF1	NM_000267.3(NF1):c.4684_4685dup:p.Phe1563fs	coding	Pathogenic
17	31265251	GA	G	A31265253T	NF1	NM_000267.3(NF1):c.4686del:p.Glu1562fs	coding	Pathogenic
17	31265256	CAAGGCTTTGAAAACGTT	C	G31265260T	NF1	NM_001042492.3(NF1):c.4756_4772del:p.Ala1586fs	coding	Pathogenic
17	31265265	GA	G	A31265269C	NF1	NM_000267.3(NF1):c.4702del:p.Thr1568fs	coding	Pathogenic
17	31265271	GTTAAGTAT	G	A31265274T	NF1	NM_000267.3(NF1):c.4707_4714del:p.Leu1569fs	coding	Pathogenic
17	31265278	AT	A	T31265282C	NF1	NM_001042492.3(NF1):c.4778del:p.Phe1593fs	coding	Pathogenic
17	31265285	AC	A	C31265287A	NF1	NM_000267.3(NF1):c.4720del:p.Gln1574fs	coding	Pathogenic
17	31265300	C	CG	C31265301G	NF1	NM_001042492.3(NF1):c.4796_4797insG:p.Lys1600fs	coding	Pathogenic
17	31265317	A	AT	A31265324T	NF1	NM_000267.3(NF1):c.4756dup:p.Tyr1586fs	coding	Pathogenic
17	31265317	AT	A	T31265323A	NF1	NM_000267.3(NF1):c.4756del:p.Tyr1586fs	coding	Pathogenic
17	31265319	TTTTTA	T	T31265322A	NF1	NM_000267.3(NF1):c.4755_4759del:p.Phe1585fs	coding	Pathogenic
17	31265336	GGA	AC	G31265336A	NF1	NM_000267.3(NF1):c.4769_4771delinsAC:p.Arg1590fs	coding	Pathogenic
17	31325833	CAAAT	ATATCAG	C31325833A	NF1	NM_000267.3(NF1):c.4786_4790delinsATATCAG:p.Gln1596fs	coding	Pathogenic
17	31325843	G	GT	G31325845T	NF1	NM_001042492.3(NF1):c.4860dup:p.Asp1621Ter	coding	Pathogenic
17	31325846	AT	A	T31325849G	NF1	NM_001042492.3(NF1):c.4865del:p.Leu1622fs	coding	Pathogenic
17	31325853	G	GAT	C31325859T	NF1	NM_000267.3(NF1):c.4808_4809TA[3]:p.His1605fs	coding	Pathogenic
17	31325855	T	TA	T31325857A	NF1	NM_000267.3(NF1):c.4809dup:p.Tyr1604fs	coding	Pathogenic
17	31325871	GA	G	A31325872C	NF1	NM_001042492.3(NF1):c.4888del:p.Thr1630fs	coding	Pathogenic
17	31325873	CT	C	T31325876A	NF1	NM_000267.3(NF1):c.4829del:p.Thr1609_Leu1610insTer	coding	Pathogenic
17	31325888	A	AAAT	T31325889A	NF1	NM_000267.3(NF1):c.4841_4842insAAT:p.Tyr1614Ter	coding	Pathogenic
17	31325940	TCGCTTTAA	T	C31325941A	NF1	NM_000267.3(NF1):c.4894_4901del:p.Arg1632fs	coding	Pathogenic
17	31325946	TA	T	A31325950C	NF1	NM_000267.3(NF1):c.4903del:p.Thr1635fs	coding	Pathogenic
17	31325949	AAC	A	C31325951G	NF1	NM_000267.3(NF1):c.4904_4905del:p.Thr1635fs	coding	Pathogenic
17	31325955	CT	C	T31325958C	NF1	NM_001042492.3(NF1):c.4974del:p.Leu1659fs	coding	Pathogenic
17	31325957	TTCTC	T	C31325961A	NF1	NM_000267.3(NF1):c.4914_4917del	coding	Pathogenic
17	31325960	T	TC	T31325962C	NF1	NM_001042492.3(NF1):c.4977dup:p.Ser1660fs	coding	Pathogenic
17	31325963	C	CTT	A31325965T	NF1	NM_001042492.3(NF1):c.4980_4981insTT:p.Lys1661fs	coding	Pathogenic
17	31325963	CTAAG	C	A31325965G	NF1	NM_001042492.3(NF1):c.4981_4984del:p.Lys1661fs	coding	Pathogenic
17	31325967	GTG	CTTA	G31325967C	NF1	NM_001042492.2(NF1):c.4983_4985delinsCTTA:p.Lys1661fs	coding	Pathogenic
17	31325970	GT	G	T31325973G	NF1	NM_000267.3(NF1):c.4926del:p.Phe1642fs	coding	Pathogenic
17	31325977	G	GT	C31325983T	NF1	NM_000267.3(NF1):c.4935dup:p.Pro1646fs	coding	Pathogenic
17	31325977	GT	G	T31325982C	NF1	NM_000267.3(NF1):c.4935del:p.Pro1646fs	coding	Pathogenic/Likely_pathogenic
17	31325995	T	TACGAC	A31326002C	NF1	NM_000267.3(NF1):c.4950_4954dup:p.Asn1652fs	coding	Pathogenic
17	31325996	AC	A	C31325997G	NF1	NM_001042492.3(NF1):c.5013del:p.Ala1670_Tyr1671insTer	coding	Pathogenic
17	31326004	GTC	G	T31326007C	NF1	NM_000267.3(NF1):c.4958_4959TC[1]:p.Ser1654fs	coding	Pathogenic
17	31326013	GTCTATA	G	T31326020A	NF1	NM_000267.3(NF1):c.4973_4978del	coding	Pathogenic/Likely_pathogenic
17	31326023	ATA	T	A31326023T	NF1	NM_001042492.2(NF1):c.5039_5041delinsT:p.Tyr1680fs	coding	Pathogenic
17	31326029	G	GT	A31326031T	NF1	NM_001042492.3(NF1):c.5046dup:p.Asn1683Ter	coding	Pathogenic
17	31326030	T	GGTTAC	T31326030G	NF1	NM_001042492.3(NF1):c.5046delinsGGTTAC:p.Cys1682fs	coding	Pathogenic
17	31326031	AACTCCTGGGTC	A	C31326033G	NF1	NM_001042492.3(NF1):c.5049_5059del:p.Asn1683fs	coding	Pathogenic
17	31326058	TA	T	A31326059T	NF1	NM_001042492.3(NF1):c.5075del:p.Tyr1692fs	coding	Pathogenic
17	31326065	A	AGC	G31326069C	NF1	NM_000267.3(NF1):c.5020_5021dup:p.Leu1675fs	coding	Pathogenic
17	31326070	CT	C	T31326071G	NF1	NM_000267.3(NF1):c.5024del:p.Leu1675fs	coding	Pathogenic
17	31326072	GCTGA	G	A31326076G	NF1	NM_001042492.3(NF1):c.5092_5095del:p.Thr1698fs	coding	Pathogenic
17	31326101	T	TA	T31326102A	NF1	NM_000267.3(NF1):c.5054_5055insA:p.Val1686fs	coding	Pathogenic
17	31326113	AC	A	C31326114T	NF1	NM_001042492.3(NF1):c.5130del:p.Cys1711fs	coding	Pathogenic
17	31326140	TA	T	A31326141G	NF1	NM_000267.3(NF1):c.5094del:p.Ile1698fs	coding	Pathogenic
17	31326154	CAG	C	G31326156A	NF1	NM_001042492.3(NF1):c.5172_5173del:p.Lys1725fs	coding	Pathogenic
17	31326161	TA	T	A31326162C	NF1	NM_000267.3(NF1):c.5115del:p.Pro1706fs	coding	Pathogenic
17	31326182	T	TA	G31326184A	NF1	NM_001042492.3(NF1):c.5199dup:p.Glu1734fs	coding	Pathogenic
17	31326183	AGAAGAGGACCTGAAGGTATTCCACAATGCTC	TGCT	A31326183T	NF1	NM_001042492.3(NF1):c.5199_5230delinsTGCT:p.Leu1733fs	coding	Pathogenic
17	31327454	GAGTTTAATTCTTCTCCACTTCACCCCGTCACCACCACTTTCCAGGTTGGTTCTACTGCTGTCCA	G	T31327458A	NF1	NM_000267.3(NF1):c.5206-41_5228del	noncoding	Pathogenic
17	31327497	AG	A	G31327499T	NF1	NM_000267.3(NF1):c.5206delG	noncoding	Pathogenic
17	31327515	TCCAA	T	C31327516G	NF1	NM_000267.3(NF1):c.5223_5226del:p.Val1741_Gln1742insTer	coding	Pathogenic
17	31327524	CTT	C	T31327525C	NF1	NM_000267.3(NF1):c.5232_5233del:p.Ala1746fs	coding	Pathogenic
17	31327540	AAAAGTCCTAGGGCAATCAGTCTTTCT	A	G31327544T	NF1	NM_001042492.3(NF1):c.5314_5339del:p.Lys1771_Val1772insTer	coding	Pathogenic
17	31327545	T	TC	T31327548C	NF1	NM_000267.3(NF1):c.5254dup:p.Leu1752fs	coding	Pathogenic
17	31327548	T	TAGGGC	A31327555G	NF1	NM_000267.3(NF1):c.5257_5261dup:p.Ser1755fs	coding	Pathogenic
17	31327556	TC	T	C31327557A	NF1	NM_000267.3(NF1):c.5264del:p.Gln1754_Ser1755insTer	coding	Pathogenic
17	31327561	CTT	C	T31327563C	NF1	NM_000267.3(NF1):c.5270_5271del:p.Phe1757fs	coding	Pathogenic
17	31327574	AT	A	T31327577A	NF1	NM_000267.3(NF1):c.5284del:p.Tyr1762fs	coding	Pathogenic
17	31327592	AT	A	T31327594G	NF1	NM_001042492.3(NF1):c.5364del:p.Ile1788fs	coding	Pathogenic
17	31327605	G	GCCTA	G31327610C	NF1	NM_000267.3(NF1):c.5313_5316dup:p.Val1773fs	coding	Pathogenic
17	31327608	T	TAG	T31327611A	NF1	NM_001042492.3(NF1):c.5379_5380dup:p.Val1794fs	coding	Pathogenic
17	31327632	TA	T	A31327634C	NF1	NM_001042492.3(NF1):c.5404del:p.Thr1802fs	coding	Pathogenic
17	31327656	C	CG	C31327658G	NF1	NM_000267.3(NF1):c.5364dup:p.Leu1789fs	coding	Pathogenic
17	31327660	CACCTTCATGCACCAGGAGT	C	A31327661G	NF1	NM_000267.3(NF1):c.5368_5386del:p.Thr1790fs	coding	Pathogenic
17	31327690	TG	T	G31327691T	NF1	NM_000267.3(NF1):c.5398del:p.Val1800fs	coding	Pathogenic
17	31327698	C	CT	A31327700T	NF1	NM_000267.3(NF1):c.5406dup:p.Ile1803fs	coding	Pathogenic
17	31327698	C	CTT	A31327700T	NF1	NM_000267.3(NF1):c.5406_5407insTT:p.Ile1803fs	coding	Pathogenic
17	31327721	TG	T	G31327724A	NF1	NM_001042492.3(NF1):c.5494del:p.Glu1832fs	coding	Pathogenic
17	31327740	A	AC	T31327742C	NF1	NM_000267.3(NF1):c.5448dup:p.Ser1817fs	coding	Pathogenic
17	31327741	CTCTA	C	T31327744C	NF1	NM_000267.3(NF1):c.5451_5454del:p.Ile1818fs	coding	Pathogenic
17	31327745	AT	A	T31327746C	NF1	NM_001042492.3(NF1):c.5516del:p.Ile1839fs	coding	Pathogenic/Likely_pathogenic
17	31327746	T	TC	A31327752C	NF1	NM_001042492.3(NF1):c.5521dup:p.Gln1841fs	coding	Pathogenic
17	31327757	A	AC	A31327760C	NF1	NM_000267.3(NF1):c.5466dup:p.Lys1823fs	coding	Pathogenic
17	31327758	C	CT	C31327759T	NF1	NM_000267.3(NF1):c.5465_5466insT:p.Lys1823fs	coding	Pathogenic
17	31327762	G	GA	T31327764A	NF1	NM_001042492.3(NF1):c.5533dup:p.Ile1845fs	coding	Pathogenic
17	31327763	AT	A	T31327765C	NF1	NM_000267.3(NF1):c.5472del:p.Arg1825fs	coding	Pathogenic
17	31327770	CAAAAGAT	C	A31327771G	NF1	NM_000267.3(NF1):c.5478_5484del:p.Lys1827fs	coding	Pathogenic
17	31327775	GATGTCCCT	G	A31327776G	NF1	NM_000267.3(NF1):c.5483_5490del:p.Asp1828fs	coding	Pathogenic
17	31327776	ATG	A	G31327778C	NF1	NM_000267.3(NF1):c.5485_5486del:p.Val1829fs	coding	Pathogenic
17	31327790	CT	C	T31327791G	NF1	NM_000267.3(NF1):c.5498del:p.Leu1833fs	coding	Pathogenic
17	31327801	CG	T	C31327801T	NF1	NM_000267.3(NF1):c.5508_5509delinsT:p.Ala1837fs	coding	Pathogenic
17	31327815	TA	T	A31327816G	NF1	NM_000267.3(NF1):c.5523del:p.Gly1842fs	coding	Pathogenic
17	31327822	TTC	T	C31327824G	NF1	NM_000267.3(NF1):c.5531_5532del:p.Ser1843_Ser1844insTer	coding	Pathogenic
17	31330303	G	GC	T31330306C	NF1	NM_000267.3(NF1):c.5556dup:p.Tyr1853fs	coding	Pathogenic
17	31330311	TCTTCT	G	T31330311G	NF1	NM_000267.3(NF1):c.5562_5567delinsG:p.Asn1854fs	coding	Pathogenic
17	31330313	TTC	T	C31330315G	NF1	NM_001042492.3(NF1):c.5629_5630del:p.Leu1877fs	coding	Pathogenic
17	31330314	T	TC	T31330316C	NF1	NM_001042492.3(NF1):c.5629dup:p.Leu1877fs	coding	Pathogenic
17	31330321	GC	G	C31330323T	NF1	NM_000267.3(NF1):c.5574del:p.Ala1858_Leu1859insTer	coding	Pathogenic
17	31330323	C	CT	A31330326T	NF1	NM_001042492.3(NF1):c.5639dup:p.Leu1880fs	coding	Pathogenic
17	31330330	T	TG	T31330332G	NF1	NM_000267.3(NF1):c.5582dup:p.Cys1861fs	coding	Pathogenic
17	31330343	TA	T	A31330348T	NF1	NM_001042492.3(NF1):c.5662del:p.Ile1888fs	coding	Pathogenic
17	31330351	GAGGGCCAGTTACTAGAGACATC	G	G31330355T	NF1	NM_000267.3(NF1):c.5606_5627del:p.Gly1869fs	coding	Pathogenic
17	31330357	C	CAA	G31330359A	NF1	NM_001042492.3(NF1):c.5672_5673insAA:p.Leu1892fs	coding	Pathogenic
17	31330357	C	CA	G31330359A	NF1	NM_000267.3(NF1):c.5609dup:p.Leu1871fs	coding	Pathogenic
17	31330361	T	TA	C31330363A	NF1	NM_000267.3(NF1):c.5613dup:p.Leu1872fs	coding	Pathogenic
17	31330384	AT	A	T31330385C	NF1	NM_000267.3(NF1):c.5636del:p.Ile1879fs	coding	Pathogenic
17	31330394	AC	A	C31330395A	NF1	NM_001042492.3(NF1):c.5709del:p.Asn1903fs	coding	Pathogenic
17	31330407	TATTGTCTCTATTAGTAAGAC	T	T31330409C	NF1	NM_000267.3(NF1):c.5660_5679del:p.Ile1887fs	coding	Pathogenic
17	31330411	GTC	G	C31330415A	NF1	NM_001042492.2(NF1):c.5727_5728CT[1]:p.Ser1910fs	coding	Pathogenic
17	31330415	C	CT	A31330417T	NF1	NM_000267.3(NF1):c.5667dup:p.Ile1890fs	coding	Pathogenic
17	31330416	T	TATTA	G31330421A	NF1	NM_000267.3(NF1):c.5668_5671dup:p.Ser1891delinsAsnTer	coding	Pathogenic
17	31330449	CCT	C	T31330451A	NF1	NM_000267.3(NF1):c.5702_5703del:p.Leu1901fs	coding	Pathogenic
17	31330452	C	CA	C31330454A	NF1	NM_001042492.3(NF1):c.5767dup:p.Thr1923fs	coding	Pathogenic
17	31330461	AT	A	T31330466G	NF1	NM_000267.3(NF1):c.5717del:p.Leu1906fs	coding	Pathogenic
17	31330471	GA	G	A31330472G	NF1	NM_000267.3(NF1):c.5723del:p.Glu1908fs	coding	Pathogenic
17	31330472	AGT	A	G31330475A	NF1	NM_001042492.3(NF1):c.5787_5788GT[1]:p.Cys1930fs	coding	Pathogenic
17	31330485	AT	A	T31330488A	NF1	NM_001042492.3(NF1):c.5802del:p.Phe1934fs	coding	Pathogenic
17	31330491	CAAATCTA	C	A31330492G	NF1	NM_001042492.3(NF1):c.5806_5812del:p.Lys1936fs	coding	Pathogenic
17	31333090	TCACTAATAAAAGCCAATTGAAAGAATAGTGAGATAATCAGTTATCAGCTTGGCAAAGATTTTTTTTTTAAGATCCATTCCTGGTGGTCTGTGGAATTGTGAGTAGAGGCAATTTTTCTAGAAAGGCATTTGGAAGTGGATAACAAGACCTTAAGACTATTCATACCTTTTGGCCTCATAATTCTGCTTTTTAGCATTTATCCTAAAGAATTAATGTTAAAATGTTTATTATAGCATTATTTTTATGTAGATTTTTAAATTGAGGTATATCTTGTCATCAGTAAAGTGCAAGATCTTAAGTCAACAGCTTGATGAACTTCTACATGCAAATACATCATGAAAGTATCTCCAGATCTAGACATAGAACATTTCTAGCATCCAGAGGGATATTCTCAGTACCCTCCCTTCACCAAGAGTAAACACTATTATGACCTCTATTGCACAGATTTATTTTGCCTACTTTAGAACTTCATATGACATTATTTATAATAGCAAAAAAATGAACAGGCCAAAAGTCAAAGAATAAGGAACTGATTAAATTATTGGTTCTCCATCTGATGGAATAATATGAAGCCATTGAAAAATGGCTTTGTTACAGAATTTCAGTTTGGAAGATGAAAAGGTTCTAGAGATGGATGGTGGTGATGGCTGCACAATGATTTGAATGTACTCAGTGCCACTGAACTGTGCCCTTCAAAATGGGTAAAGCCACGGAACTGTACATTTAAAAATAGTTAAAATGGTAAATTTTGTGTTGTGTATATTTTACCACAATTTTAAAAACTCTTTGAGACTTTAGGTAAAGTGTATAGATAAATTTTTGTACAATTTTTGTCTTATAAATGTGAAGCTTTTTCAAGTAAGTTTAAAAGAAGTTTGCAGAATTTGTAATGTTGAATAAATAATCTCAGTATAGGCCAGGGGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCAGATCACGAGGTCAGGAGATTGAGACCATCCTGGCTAACACAGTGAAACCCCGTCTCTACTCAAAATATGAAAAAAAATTTGCCGGGCGTGGTGGTGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGTGTGAACCTGTGAACCCGGGAGGCGGAACTTGCAGTGAGCCGAGATCGCTCCTCTGCACTCCAGCCTGGGCGACAGAGGAGACTCCATCTCAAAAAAAAAAAAAATGAATAATCTCAGTATAATCACTGAAAAAAATATTCAGAGCCTACTGCATGTATAGCATAATCCCCGTTTTTGCGGGGGAGTGGGAGTGGGTTATACCTGTGTACACACACATAAATGTACATTAACTCTACATAAATTTGAAAGCCTGAGGAGAGATGAGATGATACACCAATGTTAATACAGTTTTCATTTTGTGGTGATGCTTTCCTTTTACCAAACTTTCTATGATTACCACATTTCCTTTTATAATGAGAATAAAACAACTTTTTAACAAGAAAGGACTAAAATGGAGGAAAATAAGACAAAACTTTTCAAAAATTGGCTTACTGGCTTTTAAAATTACTTTCTTCAAGGACTGTTCTTTCTTCGCCTCTACAAAAATATATTTGCCAAGTGTCTTTTCTCCAGGCCTGATTCTAGGTAATAGTCTTTACCTTTTACCATTTTTTCCCCGAATTCTTTATGTTAAATAATTGTTGATGTGATTTTCATTGACCATCACATGCTAATAGTGTATTTTTTTCCAGGTATTGAATTGAAACACCTTTGTTTGGAATACATGACTCCATGGCTGTCAAATCTAGTTCGTTTTTGCAAGCATAATGATGATGCCAAACGACAAAGAGTTACTGCTATTCTTGACAAGCTGATAACAATGACCATCAATGAAAAACAGATGTACCCATCTATTCAAGCAAAAATATGGGGAAGCCTTGGGCAGGTATTGAGTTTGCTCAAATATTTATCTAGTATCTCCTTTGTGCACATATTTATCTGGTGCCACATTGGGCAAAGCACTGCGCTAGACACTAGGGATAGAGTTGTAAAAAACACAGTTTCCTCCTTCAGAAAGCATGTAGACACTCACCCAGCTCTTCATCTGGTTCAAAATTGTAAATGTCTAGTGCATGTCTCAGAGCCAGAGAAAAGCTAGTTATTTGCACAGTCTCCTTCAAGGCATAATTATATATATATATATATATATAATTATGCCTTGAAGGAGACTGTGCAAATAACTAGATTTTATATATATATTATATAGAACTGTAGAAATCTGGTGACATTTCTAGTGCTTTATTCTAGTTCTCTACATTCCAAAGGTGTCAGTAGATGTTTCTTCTTATTGATGCTATTTGGGACATCTGCTTTCATTTATAGTTCTACATAAGAATGCCAATATTAAAATAGGATATAATGTAAATTTTATTTTTATCTGACAAGAATTAGGCATATCATTTCTTCAAAGTAATCATTTAAGGAAATAATGCCCTCACTCAAACACTGCTGCTCCTCCTCCAAATAATTAGAAATAACCTTGGAGCCAGTGTTGCAGCCCTAGAAAACATCCTGGTACTTAATGTCATTTCCTATATTTTATTTTTTTTTGAGACTGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCAGTGGTACAGTCTCGGCTCATTGCAACCTCTGCCTCCCAGGCTCAAGTGACCCTTCCACCTCAGCCTCCCAAGTAGCTGGGCCTACAGGTGCACACCAACACACCTGGCTAATTTTTGTATTTTTTTTTTTTTTTTTTTTTAGAGATAGGGTTTTGCCATGTTGCCCAGGCTGGTCTTGAACTCCTGGCCTCAAGCAATCCGCCCGCCTCAGCCTCCCCAAGTGCTGGGATTACAAGCGTGAGCCACTGCACCCAGCTCTGTATTTTCAAATTACTATTTTATATTGATGCTACATTACTGTCTTAGAAAAGCATAGAGATACTTTGCAAGTGACTGAAGATAGTATTGATAGAGATTTAAAATTTTTGAATACCAATCTCTTAATCTCTGAAGGAGTCAAATGAATATACTCATCCTTTACTGGATATTTTATAATAAATTGTATTTACTGACAGGCCTGTAAATAAAATCTAGTATTTTTGAGGCCTCAGGTAAAATAGAATTTTCATATTGATTAGGCTGTTCCAATGAATATTTTTTAATTAAAAATTAAATTGGTAGAGTGATTAAAAACATGTTATTTTCCTTCTTCAACTAGATTACAGATCTGCTTGATGTTGTACTAGACAGTTTCATCAAAACCAGTGCAACAGGTGGCTTGGGATCAATAAAAGCTGAGGTGATGGCAGATACTGCTGTAGCTTTGGCTTCTGGAAATGTGAAATTGGTTTCAAGCAAGGTAATCACTTTTCTTTTGCCTTCTGTACTATAGCATATCTGTTTTATCATCAGGAGGTTTTTTGTTTTGTAATTACTTTTAAATTAAACTGAACTTTTTTGTGCTAAAACTTTGAGTCCCATGTTTTTTTTTTTAAAAAAAAAAATCCTGCTTCTTTACAGGTTATTGGAAGGATGTGCAAAATAATTGACAAGACATGCTTATCTCCAACTCCTACTTTAGAACAACATCTTATGTGGGATGATATTGCTATTTTAGCAC	CTA	T31333090C	NF1	NM_000267.3(NF1):c.5750-1748_6184delinsCTA	noncoding	Pathogenic
17	31333749	TTTGAATGTACTCAGTGCCACTGAACTGTGCCCTTCAAAATGGGTAAAGCCACGGAACTGTACATTTAAAAATAGTTAAAATGGTAAATTTTGTGTTGTGTATATTTTACCACAATTTTAAAAACTCTTTGAGACTTTAGGTAAAGTGTATAGATAAATTTTTGTACAATTTTTGTCTTATAAATGTGAAGCTTTTTCAAGTAAGTTTAAAAGAAGTTTGCAGAATTTGTAATGTTGAATAAATAATCTCAGTATAGGCCAGGGGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCAGATCACGAGGTCAGGAGATTGAGACCATCCTGGCTAACACAGTGAAACCCCGTCTCTACTCAAAATATGAAAAAAAATTTGCCGGGCGTGGTGGTGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGTGTGAACCTGTGAACCCGGGAGGCGGAACTTGCAGTGAGCCGAGATCGCTCCTCTGCACTCCAGCCTGGGCGACAGAGGAGACTCCATCTCAAAAAAAAAAAAAATGAATAATCTCAGTATAATCACTGAAAAAAATATTCAGAGCCTACTGCATGTATAGCATAATCCCCGTTTTTGCGGGGGAGTGGGAGTGGGTTATACCTGTGTACACACACATAAATGTACATTAACTCTACATAAATTTGAAAGCCTGAGGAGAGATGAGATGATACACCAATGTTAATACAGTTTTCATTTTGTGGTGATGCTTTCCTTTTACCAAACTTTCTATGATTACCACATTTCCTTTTATAATGAGAATAAAACAACTTTTTAACAAGAAAGGACTAAAATGGAGGAAAATAAGACAAAACTTTTCAAAAATTGGCTTACTGGCTTTTAAAATTACTTTCTTCAAGGACTGTTCTTTCTTCGCCTCTACAAAAATATATTTGCCAAGTGTCTTTTCTCCAGGCCTGATTCTAGGTAATAGTCTTTACCTTTTACCATTTTTTCCCCGAATTCTTTATGTTAAATAATTGTTGATGTGATTTTCATTGACCATCACATGCTAATAGTGTATTTTTTTCCAGGTATTGAATTGAAACACCTTTGTTTGGAATACATGACTCCATGGCTGTCAAATCTAGTTCGTTTTTGCAAGCATAATGATGATGCCAAACGACAAAGAGTTACTGCTATTCTTGACAAGCTGATAACAATGACCATCAATGAAAAACAGATGTACCCATCTATTCAAGCAAAAATATGGGGAAGCCTTGGGCAGGTATTGAGTTTGCTCAAATATTTATCTAGTATCTCCTTTGTGCACATATTTATCTGGTGCCACATTGGGCAAAGCACTGCGCTAGACACTAGGGATAGAGTTGTAAAAAACACAGTTTCCTCCTTCAGAAAGCATGTAGACACTCACCCAGCTCTTCATCTGGTTCAAAATTGTAAATGTCTAGTGCATGTCTCAGAGCCAGAGAAAAGCTAGTTATTTGCACAGTCTCCTTCAAGGCATAA	T	G31333752A	NF1	NM_000267.3(NF1):c.5750-1086_5943+244del	noncoding	Pathogenic
17	31334376	GTTTTTGCGGGGGAGTGGGAGTGGGTTATACCTGTGTACACACACATAAATGTACATTAACTCTACATAAATTTGAAAGCCTGAGGAGAGATGAGATGATACACCAATGTTAATACAGTTTTCATTTTGTGGTGATGCTTTCCTTTTACCAAACTTTCTATGATTACCACATTTCCTTTTATAATGAGAATAAAACAACTTTTTAACAAGAAAGGACTAAAATGGAGGAAAATAAGACAAAACTTTTCAAAAATTGGCTTACTGGCTTTTAAAATTACTTTCTTCAAGGACTGTTCTTTCTTCGCCTCTACAAAAATATATTTGCCAAGTGTCTTTTCTCCAGGCCTGATTCTAGGTAATAGTCTTTACCTTTTACCATTTTTTCCCCGAATTCTTTATGTTAAATAATTGTTGATGTGATTTTCATTGACCATCACATGCTAATAGTGTATTTTTTTCCAGGTATTGAATTGAAACACCTTTGTTTGGAATACATGACTCCATGGCTGTCAAATCTAGTTCGTTTTTGCAAGCATAATGATGATGCCAAACGACAAAGAGTTACTGCTATTCTTGACAAGCTGATAACAATGACCATCAATGAAAAACAGATGTACCCATCTATTCAAGCAAAAATATGGGGAAGCCTTGGGCAGGTATTGAGTTTGCTCAAATATTTATCTAGTATCTCCTTTGTGCACATATTTATCTGGTGCCACATTGGGCAAAGCACTGCGCTAGACACTAGGGATAGAGTTGTAAAAAACACAGTTTCCTCCTTCAGAAAGCATGTAGACACTCACCCAGCTCTTCATCTGGTTCAAAATTGTAAATGTCTAGTGCATGTCTCAGAGCCAGAGAAAAGCTAGTTATTTGCACAGTCTCCTTCAAGGCATAAT	G	T31334378A	NF1	NM_000267.3(NF1):c.5750-460_5943+244del	noncoding	Pathogenic
17	31334462	AGAGATGAGATGATACACCAATGTTAATACAGTTTTCATTTTGTGGTGATGCTTTCCTTTTACCAAACTTTCTATGATTACCACATTTCCTTTTATAATGAGAATAAAACAACTTTTTAACAAGAAAGGACTAAAATGGAGGAAAATAAGACAAAACTTTTCAAAAATTGGCTTACTGGCTTTTAAAATTACTTTCTTCAAGGACTGTTCTTTCTTCGCCTCTACAAAAATATATTTGCCAAGTGTCTTTTCTCCAGGCCTGATTCTAGGTAATAGTCTTTACCTTTTACCATTTTTTCCCCGAATTCTTTATGTTAAATAATTGTTGATGTGATTTTCATTGACCATCACATGCTAATAGTGTATTTTTTTCCAGGTATTGAATTGAAACACCTTTGTTTGGAATACATGACTCCATGGCTGTCAAATCTAGTTCGTTTTTGCAAGCATAATGATGATGCCAAACGACAAAGAGTTACTGCTATTCTTGACAAGCTGATAACAATGACCATCAATGAAAAACAGATGTACCCATCTATTCAAGCAAAAATATGGGGAAGCCTTGGGCAGGTATTGAGTTTGCTCAAATATTTATCTAGTATCTCCTTTGTGCACATATTTATCTGGTGCCACATTGGGCAAAGCACTGCGCTAGACACTAGGGATAGAGTTGTAAAAAACACAGTTTCCTCCTTCAGAAAGCATGTAGACACTCACCCAGCTCTTCATCTGGTTCAAAATTGTAAATGTCTAGTGCATGTCTCAGAGCCAGAGAAAAGCTAGTTATTTGCACAGTCTCCTTCAAGGCATAATTATATATATATATATATATATAATTATGCCTTGAAGGAGACTGTGCAAATAACTAGATTTTATATATATATTATATAGAACTGTAGAAATCTGGTGACATTTCTAGTGCTTTATTCTAGTTCTCTACATTCCAAAGGTGTCAGTAGATGTTTCTTCTTATTGATGCTATTTGGGACATCTGCTTTCATTTATAGTTCTACATAAGAATGCCAATATTAAAATAGGATATAATGTAAATTTTATTTTTATCTGACAAGAATTAGGCATATCATTTCTTCAAAGTAATCATTTAAGGAAATAATGCCCTCACTCAAACACTGCTGCTCCTCCTCCAAATAATTAGAAATAACCTTGGAGCCAGTGTTGCAGCCCTAGAAAACATCCTGGTACTTAATGTCATTTCCTATATTTTATTTTTTTTTGAGACTGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCAGTGGTACAGTCTCGGCTCATTGCAACCTCTGCCTCCCAGGCTCAAGTGACCCTTCCACCTCAGCCTCCCAAGTAGCTGGGCCTACAGGTGCACACCAACACACCTGGCTAATTTTTGTATTTTTTTTTTTTTTTTTTTTTAGAGATAGGGTTTTGCCATGTTGCCCAGGCTGGTCTTGAACTCCTGGCCTCAAGCAATCCGCCCGCCTCAGCCTCCCCAAGTGCTGGGATTACAAGCGTGAGCCACTGCACCCAGCTCTGTATTTTCAAATTACTATTTTATATTGATGCTACATTACTGTCTTAGAAAAGCATAGAGATACTTTGCAAGTGACTGAAGATAGTATTGATAGAGATTTAAAATTTTTGAATACCAATCTCTTAATCTCTGAAGGAGTCAAATGAATATACTCATCCTTTACT	A	A31334464G	NF1	NM_000267.3(NF1):c.5750-374_5944-176del	noncoding	Pathogenic
17	31334824	GTATT	G	A31334826T	NF1	NM_001042492.3(NF1):c.5813-12_5813-9del	noncoding	Pathogenic
17	31334853	AC	A	C31334855T	NF1	NM_000267.3(NF1):c.5767del:p.Leu1923fs	coding	Pathogenic
17	31334854	C	CTG	C31334855T	NF1	NM_001042492.3(NF1):c.5829_5830insTG:p.Leu1944fs	coding	Pathogenic
17	31334855	CT	C	T31334858G	NF1	NM_000267.3(NF1):c.5770del:p.Cys1924fs	coding	Pathogenic/Likely_pathogenic
17	31334859	GT	G	T31334862G	NF1	NM_001042492.3(NF1):c.5837del:p.Leu1946fs	coding	Pathogenic
17	31334867	T	TA	C31334869A	NF1	NM_000267.3(NF1):c.5780dup:p.Tyr1927Ter	coding	Pathogenic
17	31334910	A	AT	A31334912T	NF1	NM_001042492.3(NF1):c.5886dup:p.Asn1963Ter	coding	Pathogenic
17	31334923	CA	C	A31334926C	NF1	NM_001042492.3(NF1):c.5901del:p.Lys1967fs	coding	Pathogenic
17	31334930	CAA	C	A31334932G	NF1	NM_000267.3(NF1):c.5844_5845del:p.Arg1949fs	coding	Pathogenic
17	31334932	A	AAT	G31334934T	NF1	NM_000267.3(NF1):c.5845_5846insTA:p.Arg1949fs	coding	Pathogenic
17	31334938	T	TA	C31334940A	NF1	NM_001042492.3(NF1):c.5914dup:p.Thr1972fs	coding	Pathogenic
17	31334948	CT	C	T31334950G	NF1	NM_000267.3(NF1):c.5862del:p.Asp1955fs	coding	Pathogenic
17	31334961	TA	T	A31334963C	NF1	NM_000267.3(NF1):c.5875del:p.Thr1959fs	coding	Pathogenic
17	31334967	TG	T	G31334968A	NF1	NM_000267.3(NF1):c.5880del:p.Met1960fs	coding	Pathogenic
17	31334978	G	GA	C31334984A	NF1	NM_001042492.3(NF1):c.5958dup:p.Gln1987fs	coding	Pathogenic
17	31334993	CCATCTATT	C	T31334996A	NF1	NM_000267.3(NF1):c.5908_5915del:p.Ile1971fs	coding	Pathogenic
17	31335001	TCAAG	T	G31335005A	NF1	NM_001042492.3(NF1):c.5980_5983del:p.Ala1994fs	coding	Pathogenic
17	31335031	GG	AA	G31335031A	NF1	NM_000267.3(NF1):c.5943_5943+1delinsAA	coding	Pathogenic
17	31336333	AT	A	T31336335A	NF1	NM_001042492.3(NF1):c.6009del:p.Thr2004fs	coding	Pathogenic
17	31336338	AG	A	G31336339A	NF1	NM_001042492.3(NF1):c.6013del:p.Asp2005fs	coding	Pathogenic
17	31336386	AG	A	G31336388T	NF1	NM_000267.3(NF1):c.5999del:p.Gly2000fs	coding	Pathogenic
17	31336407	AGC	GG	A31336407G	NF1	NM_001042492.3(NF1):c.6081_6083delinsGG:p.Ala2028fs	coding	Pathogenic
17	31336412	A	AG	T31336415G	NF1	NM_000267.3(NF1):c.6025dup:p.Val2009fs	coding	Pathogenic
17	31336415	T	TG	A31336417G	NF1	NM_000267.3(NF1):c.6027dup:p.Met2010fs	coding	Pathogenic
17	31336421	CA	C	A31336422G	NF1	NM_001042492.3(NF1):c.6096del:p.Asp2033fs	coding	Pathogenic
17	31336430	C	CT	G31336432T	NF1	NM_001042492.3(NF1):c.6105dup:p.Val2036fs	coding	Pathogenic
17	31336460	T	TG	T31336463G	NF1	NM_000267.3(NF1):c.6073dup:p.Val2025fs	coding	Pathogenic
17	31336462	GT	G	T31336465C	NF1	NM_001042492.3(NF1):c.6139del:p.Ser2047fs	coding	Pathogenic
17	31336470	CAAGGT	C	G31336473T	NF1	NM_001042492.3(NF1):c.6147_6147+4del	coding	Pathogenic
17	31336596	GT	G	T31336607A	NF1	NM_001042492.3(NF1):c.6148-28del	noncoding	Benign
17	31336607	T	TAA	T31336619A	NF1	NM_001042492.3(NF1):c.6148-18_6148-17dup	noncoding	Benign
17	31336607	T	TA	T31336619A	NF1	NM_001042492.3(NF1):c.6148-17dup	noncoding	Benign
17	31336630	TACA	T	A31336631G	NF1	NM_001042492.3(NF1):c.6148-4_6148-2del	noncoding	Pathogenic
17	31336636	TT	GGC	T31336636G	NF1	NM_001042492.3(NF1):c.6149_6150delinsGGC:p.Val2050fs	coding	Pathogenic
17	31336659	AT	A	T31336661G	NF1	NM_000267.3(NF1):c.6111del:p.Ile2037fs	coding	Pathogenic
17	31336673	C	CG	T31336674G	NF1	NM_001042492.3(NF1):c.6186_6187insG:p.Leu2063fs	coding	Pathogenic
17	31336683	AC	A	C31336684T	NF1	NM_000267.3(NF1):c.6134del:p.Thr2045fs	coding	Pathogenic
17	31336706	T	TA	T31336708A	NF1	NM_000267.3(NF1):c.6157dup:p.Met2053fs	coding	Pathogenic
17	31336732	CA	C	A31336733C	NF1	NM_001042492.3(NF1):c.6246del:p.Arg2083fs	coding	Pathogenic
17	31336760	CA	C	A31336762T	NF1	NM_000267.3(NF1):c.6212del:p.Asn2071fs	coding	Pathogenic
17	31336787	TC	T	C31336790T	NF1	NM_001042492.3(NF1):c.6303del:p.Tyr2102fs	coding	Pathogenic
17	31336792	A	AC	T31336795C	NF1	NM_001042492.3(NF1):c.6307dup:p.Leu2103fs	coding	Pathogenic
17	31336792	AC	A	C31336794T	NF1	NM_000267.3(NF1):c.6244del:p.Leu2082fs	coding	Pathogenic
17	31336793	C	CT	C31336794T	NF1	NM_000267.3(NF1):c.6243_6244insT:p.Leu2082fs	coding	Pathogenic
17	31336801	A	ACGTTGTTACTTTCTTAGTAGCCACAGGTCCGCTCTCCCTTAGAG	T31336847G	NF1	NM_000267.3(NF1):c.6253_6296dup:p.Ser2100_Thr2101insLeuLeuLeuSerTer	coding	Pathogenic
17	31336808	T	TA	C31336810A	NF1	NM_001042492.3(NF1):c.6322dup:p.Thr2108fs	coding	Pathogenic
17	31336810	CT	C	T31336813C	NF1	NM_000267.3(NF1):c.6263del:p.Phe2088fs	coding	Pathogenic
17	31336820	AG	A	G31336821C	NF1	NM_000267.3(NF1):c.6271del:p.Ala2091fs	coding	Pathogenic
17	31336827	GGT	G	G31336828C	NF1	NM_000267.3(NF1):c.6278_6279del:p.Gly2093fs	coding	Pathogenic
17	31336842	AGAGCT	A	G31336843T	NF1	NM_001042492.3(NF1):c.6356_6360del:p.Arg2119fs	coding	Pathogenic
17	31336845	G	GCTTC	A31336851T	NF1	NM_001042492.3(NF1):c.6360_6363dup:p.Thr2122fs	coding	Pathogenic
17	31336845	G	GTTTAA	C31336846T	NF1	NM_000267.3(NF1):c.6295_6296insTTTAA:p.Ala2099delinsValTer	coding	Pathogenic
17	31336846	CT	C	T31336848C	NF1	NM_001042492.3(NF1):c.6361del:p.Ser2121fs	coding	Pathogenic
17	31336852	C	CGG	A31336853G	NF1	NM_000267.3(NF1):c.6302_6303insGG:p.His2102fs	coding	Pathogenic
17	31336859	ACTGG	A	C31336860T	NF1	NM_000267.3(NF1):c.6310_6313del:p.Leu2104fs	coding	Pathogenic
17	31336874	CA	C	A31336875T	NF1	NM_001042492.3(NF1):c.6388del:p.Ile2130fs	coding	Pathogenic
17	31336879	ACT	A	C31336884G	NF1	NM_000267.3(NF1):c.6334_6335del	coding	Pathogenic
17	31336884	CTG	C	G31336888A	NF1	NM_001042492.3(NF1):c.6399_6400GT[1]:p.Cys2134fs	coding	Pathogenic
17	31336892	TTG	T	G31336894T	NF1	NM_001042492.3(NF1):c.6407_6408del:p.Cys2136fs	coding	Pathogenic
17	31336911	AG	A	G31336912T	NF1	NM_001042492.3(NF1):c.6425del:p.Ser2142fs	coding	Pathogenic
17	31337364	AC	A	C31337365A	NF1	NM_001042492.3(NF1):c.6428-3del	noncoding	Pathogenic
17	31337392	TCAGT	A	T31337392A	NF1	NM_000267.3(NF1):c.6389_6393delinsA:p.Leu2130fs	coding	Pathogenic
17	31337401	C	CA	G31337403A	NF1	NM_000267.3(NF1):c.6399dup:p.Glu2134fs	coding	Pathogenic/Likely_pathogenic
17	31337426	CTT	C	T31337427G	NF1	NM_000267.3(NF1):c.6424_6425del:p.Leu2142fs	coding	Pathogenic
17	31337442	AG	A	G31337443C	NF1	NM_001042492.3(NF1):c.6503del:p.Ser2168fs	coding	Pathogenic
17	31337458	CTGCTGTCATTGCCTTCCGT	C	G31337460C	NF1	NM_000267.3(NF1):c.6457_6475del:p.Ala2153fs	coding	Pathogenic
17	31337462	TGTCATTGCCTTCC	T	C31337465T	NF1	NM_000267.3(NF1):c.6462_6474del:p.Ile2155fs	coding	Pathogenic
17	31337464	T	TAA	C31337465A	NF1	NM_001042492.3(NF1):c.6524_6525insAA:p.Ile2176fs	coding	Pathogenic
17	31337476	GT	G	T31337478C	NF1	NM_001042492.3(NF1):c.6538del:p.Ser2180fs	coding	Pathogenic
17	31337478	TC	T	C31337480A	NF1	NM_001042492.3(NF1):c.6540del:p.Ser2181fs	coding	Pathogenic
17	31337484	TA	T	A31337485C	NF1	NM_000267.3(NF1):c.6482del:p.Tyr2161fs	coding	Pathogenic
17	31337485	ACCGGG	A	C31337486A	NF1	NM_000267.3(NF1):c.6483_6487del:p.Tyr2161_Asp2163delinsTer	coding	Pathogenic
17	31337508	GGC	G	G31337509T	NF1	NM_000267.3(NF1):c.6506_6507del:p.Gly2169fs	coding	Pathogenic
17	31337516	TGAGA	T	G31337523C	NF1	NM_001042492.3(NF1):c.6577_6578GA[3]:p.Glu2195fs	coding	Pathogenic
17	31337516	TGA	T	G31337525C	NF1	NM_000267.3(NF1):c.6522_6523del	coding	Pathogenic
17	31337519	GA	G	A31337520G	NF1	NM_001042492.3(NF1):c.6580del:p.Arg2194fs	coding	Pathogenic
17	31337527	CTT	C	T31337530G	NF1	NM_001042492.3(NF1):c.6590_6591del:p.Phe2197fs	coding	Pathogenic
17	31337547	GAA	G	A31337549C	NF1	NM_001042492.3(NF1):c.6609_6610del:p.Glu2203fs	coding	Pathogenic
17	31337833	TA	T	A31337834T	NF1	NM_001042492.3(NF1):c.6658del:p.Ile2220fs	coding	Pathogenic
17	31337842	GT	G	T31337843G	NF1	NM_000267.3(NF1):c.6604del:p.Cys2202fs	coding	Pathogenic
17	31337874	CT	C	T31337875C	NF1	NM_000267.3(NF1):c.6636del:p.Gln2213fs	coding	Pathogenic
17	31337879	AG	A	G31337881T	NF1	NM_001042492.3(NF1):c.6704+1del	coding	Pathogenic/Likely_pathogenic
17	31337881	GT	G	T31337882A	NF1	NM_000267.3(NF1):c.6641+2del	noncoding	Pathogenic
17	31338016	T	TAAAA	T31338019A	NF1	NM_001042492.3(NF1):c.6705-7_6705-6insAAAA	noncoding	Pathogenic
17	31338032	TTCC	T	T31338033A	NF1	NM_000267.3(NF1):c.6650_6652del:p.Phe2217_Gln2218delinsTer	coding	Pathogenic
17	31338035	CAATAT	C	A31338039C	NF1	NM_001042492.3(NF1):c.6719_6723del:p.Tyr2240fs	coding	Pathogenic
17	31338040	T	TA	T31338043A	NF1	NM_000267.3(NF1):c.6659dup:p.Asn2220fs	coding	Pathogenic
17	31338045	C	CAGGAA	T31338047G	NF1	NM_000267.3(NF1):c.6663_6664insGGAAA:p.Ser2222fs	coding	Pathogenic
17	31338069	TTGTC	T	G31338071T	NF1	NM_000267.3(NF1):c.6688_6691del:p.Val2230fs	coding	Pathogenic
17	31338111	TA	T	A31338114G	NF1	NM_001042492.3(NF1):c.6794del:p.Lys2265fs	coding	Pathogenic
17	31338120	TA	T	A31338122T	NF1	NM_001042492.3(NF1):c.6802del:p.Ile2268fs	coding	Pathogenic
17	31338139	GGTACCTGTTCCGCCCTCACTTCTCCCAAATATTTATGGTTCTCAAGTTGTAAAGCATATCTTTCATTTTTCTAAAAGACGTTTAAATTTGAGGTCAATGAAATATCTTATATGTTACTTATTAAGCCTTTAAAATGTATTTTGATTATTTATTGTAATTCTTTGAAGAAGTCTTCTCTAAAGAAGCTGTCTTTATATGTAAACTCTGATTACTTCATTAAGGAAGATGTCTTTAAAATAAAATATGTTGCCTCTTTTGCTAAGCAGGTACACTTAGTATTTTACCAGTTTTCAAAGCATTTAATTATATGGTAAGACTATAGCCTTGCATAAAATTATTTAATTTGTAATTACTATAATAATGTCTGACTCTTATAATGTAGAAATGTCAAAAAATAAGAAAACAAATGTACATTAAGCTAGCTACCAAGATCACCATAGCATGAGAAATCATTCTAGCATTTATTAAATAAGTAAATGTTCCTGAATTCATTCCGAGATTCAGTTTAGGAGTTAATGTTTTATTTCAATGAAAGTAAAATAAAAAATTCTGTTTTCCTAAAAGGCACTT	G	T31338141A	NF1	NM_001042492.3(NF1):c.6819+2_6826del	coding	Pathogenic
17	31338707	CTTGA	TGG	C31338707T	NF1	NM_001042492.3(NF1):c.6823_6827delinsTGG:p.Leu2275fs	coding	Pathogenic
17	31338714	GT	G	T31338716G	NF1	NM_001042492.3(NF1):c.6832del:p.Cys2278fs	coding	Pathogenic
17	31338718	C	CTT	A31338721T	NF1	NM_000267.3(NF1):c.6772_6773dup:p.Leu2258fs	coding	Pathogenic
17	31338720	TA	T	A31338724G	NF1	NM_001042492.3(NF1):c.6840del:p.Gly2281fs	coding	Pathogenic
17	31338727	AC	A	C31338729T	NF1	NM_001042492.3(NF1):c.6845del:p.Pro2282fs	coding	Pathogenic
17	31338730	T	TG	A31338732G	NF1	NM_001042492.3(NF1):c.6847dup:p.Asp2283fs	coding	Pathogenic
17	31338733	CACTT	C	T31338736A	NF1	NM_001042492.2(NF1):c.6852_6855del:p.Tyr2285fs	coding	Pathogenic
17	31338737	T	TA	C31338739A	NF1	NM_001042492.3(NF1):c.6854dup:p.Tyr2285Ter	coding	Pathogenic
17	31338738	AC	A	C31338739A	NF1	NM_000267.3(NF1):c.6792del:p.Thr2263_Tyr2264insTer	coding	Pathogenic
17	31338740	AAC	A	C31338742G	NF1	NM_000267.3(NF1):c.6795_6796del:p.Asn2265fs	coding	Pathogenic
17	31338744	G	GTCAA	G31338749T	NF1	NM_000267.3(NF1):c.6798_6801dup:p.Val2268fs	coding	Pathogenic
17	31338761	GC	G	C31338762T	NF1	NM_000267.3(NF1):c.6815del:p.Ala2272fs	coding	Pathogenic
17	31338775	A	AC	T31338777C	NF1	NM_001042492.3(NF1):c.6892dup:p.Leu2298fs	coding	Pathogenic
17	31338781	C	CA	T31338785A	NF1	NM_000267.3(NF1):c.6837dup:p.Leu2280fs	coding	Pathogenic
17	31338789	AG	A	G31338790C	NF1	NM_001042492.3(NF1):c.6906del:p.Gln2302fs	coding	Pathogenic
17	31338795	TTCTTA	T	T31338796A	NF1	NM_000267.3(NF1):c.6849_6853del:p.Leu2283_Leu2284insTer	coding	Pathogenic
17	31338798	T	TTA	A31338801T	NF1	NM_000267.3(NF1):c.6852_6853dup:p.Asn2285fs	coding	Pathogenic
17	31340488	CAT	C	A31340491C	NF1	NM_001042492.3(NF1):c.6922-14_6922-13del	noncoding	Benign/Likely_benign
17	31340507	C	CT	C31340509T	NF1	NM_001042492.3(NF1):c.6925dup:p.Ser2309fs	coding	Pathogenic
17	31340519	CA	C	A31340522G	NF1	NM_001042492.3(NF1):c.6939del:p.Ala2314fs	coding	Pathogenic
17	31340532	T	TG	T31340536G	NF1	NM_000267.3(NF1):c.6889dup:p.Val2297fs	coding	Pathogenic
17	31340561	T	TG	A31340563G	NF1	NM_001042492.3(NF1):c.6979dup:p.Glu2327fs	coding	Pathogenic
17	31340574	TATTCAGCAGGTACCGC	T	T31340576C	NF1	NM_000267.3(NF1):c.6930_6945del:p.Ser2311fs	coding	Pathogenic
17	31340609	GCATA	G	A31340611T	NF1	NM_000267.3(NF1):c.6965_6968del:p.His2322fs	coding	Pathogenic
17	31340612	TA	T	A31340613C	NF1	NM_000267.3(NF1):c.6967del:p.Thr2323fs	coding	Pathogenic
17	31340615	TTTAGATAG	T	T31340617C	NF1	NM_000267.3(NF1):c.6971_6978del:p.Leu2324fs	coding	Pathogenic
17	31340616	TTAGA	T	A31340620T	NF1	NM_000267.3(NF1):c.6974_6977del:p.Asp2325fs	coding	Pathogenic
17	31340621	T	TA	G31340623A	NF1	NM_001042492.3(NF1):c.7039dup:p.Ser2347fs	coding	Pathogenic
17	31340622	AG	A	G31340623T	NF1	NM_001042492.3(NF1):c.7040del:p.Ser2347fs	coding	Pathogenic
17	31340641	A	ACAAG	G31340646C	NF1	NM_001042492.3(NF1):c.7059_7062dup:p.Ser2355fs	coding	Pathogenic
17	31340642	CAAGGT	C	G31340646C	NF1	NM_001042492.3(NF1):c.7062+1_7062+5del	coding	Pathogenic
17	31342681	G	GA	T31342683A	NF1	NM_000267.3(NF1):c.7000-327dup	noncoding	Benign
17	31343020	AGTATTTATGGCAATCCGGAATCCTCTG	A	T31343022A	NF1	NM_000267.3(NF1):c.7013_7039del:p.Val2338_Leu2346del	coding	Pathogenic
17	31343034	T	TC	G31343037C	NF1	NM_001042492.3(NF1):c.7090dup:p.Arg2364fs	coding	Pathogenic
17	31343046	TG	T	G31343048A	NF1	NM_000267.3(NF1):c.7039del:p.Glu2347fs	coding	Pathogenic
17	31343055	ACT	A	C31343056G	NF1	NM_000267.3(NF1):c.7047_7048del:p.His2349fs	coding	Pathogenic
17	31343059	CAAGCAAATGGATCATTTTGT	C	A31343060T	NF1	NM_001042492.3(NF1):c.7114_7133del:p.Lys2372fs	coding	Pathogenic
17	31343063	C	CA	T31343067A	NF1	NM_001042492.3(NF1):c.7120dup:p.Met2374fs	coding	Pathogenic
17	31343073	A	AT	G31343078T	NF1	NM_001042492.3(NF1):c.7131dup:p.Val2378fs	coding	Pathogenic
17	31343073	AT	A	T31343077G	NF1	NM_001042492.3(NF1):c.7131del:p.Phe2377fs	coding	Pathogenic
17	31343086	C	CA	T31343089A	NF1	NM_001042492.3(NF1):c.7142dup:p.Asn2381fs	coding	Pathogenic
17	31343097	C	CA	T31343098A	NF1	NM_001042492.3(NF1):c.7151_7152insA:p.Ser2384_Asn2385insTer	coding	Pathogenic
17	31343097	C	CT	A31343099T	NF1	NM_000267.3(NF1):c.7089dup:p.Asn2364Ter	coding	Pathogenic
17	31343097	C	CTT	A31343099T	NF1	NM_000267.3(NF1):c.7089_7090insTT:p.Asn2364fs	coding	Pathogenic
17	31343097	CTAACTT	C	A31343105G	NF1	NM_000267.3(NF1):c.7096_7101del	coding	Pathogenic/Likely_pathogenic
17	31343101	C	CTT	A31343105T	NF1	NM_001042492.3(NF1):c.7157_7158dup:p.Asn2387fs	coding	Pathogenic
17	31343101	CT	C	T31343104A	NF1	NM_001042492.3(NF1):c.7158del:p.Phe2386fs	coding	Pathogenic
17	31343126	C	CT	A31343131T	NF1	NM_001042492.3(NF1):c.7184dup:p.Leu2395fs	coding	Pathogenic
17	31343130	TA	T	A31343134G	NF1	NM_000267.3(NF1):c.7125del:p.Tyr2377fs	coding	Pathogenic
17	31349086	CTTGT	C	G31349109T	NF1	NM_000267.3(NF1):c.7127-33TTGT[5]	noncoding	Benign
17	31349109	GT	G	T31349115G	NF1	NM_001042492.3(NF1):c.7190-5del	noncoding	Benign/Likely_benign
17	31349118	AG	A	G31349121T	NF1	NM_000267.3(NF1):c.7128delG	noncoding	Pathogenic
17	31349124	CA	C	A31349125G	NF1	NM_000267.3(NF1):c.7132del:p.Arg2378fs	coding	Pathogenic
17	31349138	CT	C	T31349139G	NF1	NM_001042492.3(NF1):c.7209del:p.Ala2404fs	coding	Pathogenic
17	31349141	C	CT	A31349143T	NF1	NM_001042492.3(NF1):c.7212dup:p.Ile2405fs	coding	Pathogenic
17	31349162	GA	G	A31349164T	NF1	NM_000267.3(NF1):c.7171del:p.Ile2391fs	coding	Pathogenic
17	31349176	C	CTACT	A31349181T	NF1	NM_001042492.3(NF1):c.7247_7250dup:p.Leu2419fs	coding	Pathogenic
17	31349178	AC	A	C31349179T	NF1	NM_001042492.3(NF1):c.7249del:p.Leu2416_Leu2417insTer	coding	Pathogenic
17	31349182	ACT	A	C31349185G	NF1	NM_000267.3(NF1):c.7192_7193del	coding	Pathogenic
17	31349185	CTG	C	T31349186G	NF1	NM_000267.3(NF1):c.7193_7194del:p.Leu2398fs	coding	Pathogenic
17	31349188	G	GT	A31349191T	NF1	NM_000267.3(NF1):c.7197dup:p.Asn2400Ter	coding	Pathogenic
17	31349190	TAACAA	T	A31349192C	NF1	NM_001042492.3(NF1):c.7262_7266del:p.Asn2421fs	coding	Pathogenic
17	31349190	TAACA	T	A31349195C	NF1	NM_000267.3(NF1):c.7202_7205del	coding	Pathogenic
17	31349190	TA	T	A31349192C	NF1	NM_001042492.3(NF1):c.7262del:p.Asn2421fs	coding	Pathogenic
17	31349195	AAC	A	C31349199G	NF1	NM_000267.3(NF1):c.7206_7207del	coding	Pathogenic
17	31349197	CA	C	A31349198C	NF1	NM_001042492.3(NF1):c.7268del:p.His2423fs	coding	Pathogenic
17	31349199	CAG	C	G31349201A	NF1	NM_001042492.3(NF1):c.7271_7272del:p.Arg2424fs	coding	Pathogenic
17	31349201	GA	G	A31349204T	NF1	NM_000267.3(NF1):c.7211del:p.Asn2404fs	coding	Pathogenic
17	31349207	GT	G	T31349208G	NF1	NM_001042492.3(NF1):c.7278del:p.Cys2426fs	coding	Pathogenic
17	31349210	AC	A	C31349211A	NF1	NM_001042492.3(NF1):c.7281del:p.Asp2427fs	coding	Pathogenic
17	31349214	AT	A	T31349217G	NF1	NM_000267.3(NF1):c.7224del:p.Phe2408fs	coding	Pathogenic
17	31349218	GA	G	A31349220G	NF1	NM_001042492.3(NF1):c.7290del:p.Glu2430_Val2431insTer	coding	Pathogenic
17	31349230	CAG	C	A31349233C	NF1	NM_001042492.2(NF1):c.7301_7302AG[1]:p.Ser2435fs	coding	Pathogenic
17	31349241	CTACT	C	C31349244G	NF1	NM_001042492.3(NF1):c.7314_7317del:p.Ala2437_Tyr2438insTer	coding	Pathogenic
17	31349249	CA	C	A31349250G	NF1	NM_000267.3(NF1):c.7257del:p.Ala2420fs	coding	Pathogenic
17	31350182	GC	G	C31350183T	NF1	NM_000267.3(NF1):c.7259del:p.Ala2420fs	coding	Pathogenic
17	31350183	C	CT	A31350187T	NF1	NM_001042492.3(NF1):c.7325dup:p.Leu2442fs	coding	Pathogenic
17	31350183	CT	C	T31350186A	NF1	NM_001042492.3(NF1):c.7325del:p.Leu2442fs	coding	Pathogenic
17	31350184	TTTAC	T	T31350189A	NF1	NM_001042492.2(NF1):c.7324_7327TTAC[1]:p.Leu2443fs	coding	Pathogenic
17	31350190	T	TAA	C31350192A	NF1	NM_000267.3(NF1):c.7267_7268insAA:p.Thr2423fs	coding	Pathogenic
17	31350190	T	TA	C31350192A	NF1	NM_000267.3(NF1):c.7267dup:p.Thr2423fs	coding	Pathogenic
17	31350196	GTC	G	C31350198G	NF1	NM_000267.3(NF1):c.7274_7275del:p.Val2424_Ser2425insTer	coding	Pathogenic
17	31350233	AG	A	G31350234A	NF1	NM_000267.3(NF1):c.7310del:p.Arg2437fs	coding	Pathogenic
17	31350242	CT	C	T31350244C	NF1	NM_000267.3(NF1):c.7320del:p.Leu2441fs	coding	Pathogenic
17	31350252	CT	C	T31350253G	NF1	NM_000267.3(NF1):c.7329del:p.Asp2444fs	coding	Pathogenic
17	31350253	TG	T	G31350254A	NF1	NM_001042492.3(NF1):c.7393del:p.Asp2465fs	coding	Pathogenic
17	31350266	G	GA	T31350271A	NF1	NM_000267.3(NF1):c.7346dup:p.Asn2449fs	coding	Pathogenic
17	31350274	TC	T	C31350276T	NF1	NM_000267.3(NF1):c.7352del:p.Pro2451fs	coding	Pathogenic
17	31350281	GA	G	A31350282T	NF1	NM_001042492.3(NF1):c.7421del:p.Asp2474fs	coding	Pathogenic
17	31350282	A	AT	A31350284T	NF1	NM_000267.3(NF1):c.7359dup:p.Thr2454fs	coding	Pathogenic
17	31350308	CCTTCCTATAG	C	C31350309G	NF1	NM_000267.3(NF1):c.7385_7394del:p.Pro2462fs	coding	Pathogenic
17	31350313	C	CT	A31350315T	NF1	NM_001042492.3(NF1):c.7453dup:p.Tyr2485fs	coding	Pathogenic
17	31352254	CAGGA	C	A31352255C	NF1	NM_001042492.3(NF1):c.7458-2_7459del	noncoding	Pathogenic
17	31352257	GACAC	TCT	G31352257T	NF1	NM_001042492.3(NF1):c.7458_7462delinsTCT:p.Arg2486fs	coding	Pathogenic
17	31352293	AG	A	G31352295T	NF1	NM_000267.3(NF1):c.7433del:p.Gly2478fs	coding	Pathogenic
17	31352302	AG	A	G31352304A	NF1	NM_000267.3(NF1):c.7442del:p.Gly2481fs	coding	Pathogenic
17	31352303	G	GGATA	C31352308G	NF1	NM_001042492.3(NF1):c.7505_7508dup:p.Tyr2503Ter	coding	Pathogenic
17	31352328	CTG	C	G31352330C	NF1	NM_001042492.3(NF1):c.7531_7532del:p.Val2511fs	coding	Pathogenic
17	31352331	T	TCGGC	A31352337G	NF1	NM_001042492.3(NF1):c.7534_7537dup:p.Gln2513fs	coding	Pathogenic
17	31352372	G	GT	A31352373T	NF1	NM_001042492.3(NF1):c.7573_7574insT:p.Asp2525fs	coding	Pathogenic
17	31352376	TG	T	G31352380C	NF1	NM_000267.3(NF1):c.7518del:p.Gln2507fs	coding	Pathogenic/Likely_pathogenic
17	31352400	C	CT	A31352402T	NF1	NM_001042492.3(NF1):c.7602dup:p.Lys2535Ter	coding	Pathogenic
17	31352403	AGAAGTTGCTTG	A	A31352405T	NF1	NM_000267.3(NF1):c.7543_7552+1del	coding	Pathogenic
17	31352404	GA	G	A31352406G	NF1	NM_000267.3(NF1):c.7544del:p.Lys2515fs	coding	Pathogenic
17	31352406	AG	A	G31352407T	NF1	NM_001042492.3(NF1):c.7608del:p.Lys2536fs	coding	Pathogenic
17	31352410	GC	G	C31352411T	NF1	NM_001042492.3(NF1):c.7612del:p.Gly2539fs	coding	Pathogenic
17	31352411	CT	C	T31352413G	NF1	NM_001042492.3(NF1):c.7614del:p.Gly2539fs	coding	Pathogenic
17	31352437	GA	G	A31352438T	NF1	NM_000267.3(NF1):c.7552+24del	noncoding	Benign
17	31356471	AG	A	G31356472T	NF1	NM_001042492.3(NF1):c.7628del:p.Ser2543fs	coding	Pathogenic
17	31356506	TAA	AG	T31356506A	NF1	NM_001042492.2(NF1):c.7662_7664delinsAG:p.Lys2555fs	coding	Pathogenic
17	31356539	A	AC	A31356546C	NF1	NM_000267.3(NF1):c.7638dup:p.Lys2547fs	coding	Pathogenic
17	31356539	AC	A	C31356545A	NF1	NM_000267.3(NF1):c.7638del:p.Lys2547_Met2548insTer	coding	Pathogenic
17	31356567	A	ACT	G31356570C	NF1	NM_001042492.3(NF1):c.7724_7725dup:p.Asp2576fs	coding	Pathogenic
17	31356568	CTG	C	T31356569A	NF1	NM_001042492.3(NF1):c.7725_7726del:p.Asp2576fs	coding	Pathogenic
17	31356965	CAG	C	A31356968G	NF1	NM_000267.3(NF1):c.7684_7685del	coding	Pathogenic
17	31356965	C	CA	G31356967A	NF1	NM_000267.3(NF1):c.7682dup:p.Arg2562fs	coding	Pathogenic
17	31356971	A	AT	C31356975T	NF1	NM_001042492.3(NF1):c.7753dup:p.Ser2585fs	coding	Pathogenic
17	31356977	T	TCA	T31356980C	NF1	NM_000267.3(NF1):c.7694_7695dup:p.Ser2566fs	coding	Pathogenic
17	31356990	AC	A	C31356993A	NF1	NM_000267.3(NF1):c.7709del:p.Pro2570fs	coding	Pathogenic
17	31356996	AT	A	T31356999A	NF1	NM_000267.3(NF1):c.7715del:p.Leu2572fs	coding	Pathogenic
17	31357002	GT	G	T31357003A	NF1	NM_000267.3(NF1):c.7719del:p.Val2575fs	coding	Pathogenic
17	31357003	TAA	T	A31357005G	NF1	NM_000267.3(NF1):c.7721_7722del:p.Lys2574fs	coding	Pathogenic
17	31357007	G	GTT	C31357011T	NF1	NM_001042492.3(NF1):c.7788_7789dup:p.Ser2597fs	coding	Pathogenic
17	31357017	C	CT	G31357019T	NF1	NM_000267.3(NF1):c.7734dup:p.Glu2579Ter	coding	Pathogenic
17	31357031	CT	C	T31357032C	NF1	NM_000267.3(NF1):c.7748del:p.Leu2583fs	coding	Pathogenic
17	31357057	TC	T	C31357059G	NF1	NM_001042492.3(NF1):c.7838del:p.Pro2613fs	coding	Pathogenic
17	31357057	T	TC	G31357060C	NF1	NM_000267.3(NF1):c.7775dup:p.Lys2593fs	coding	Pathogenic
17	31357059	CG	C	G31357060A	NF1	NM_001042492.3(NF1):c.7839del:p.Lys2614fs	coding	Pathogenic
17	31357066	CCAGG	C	A31357068G	NF1	NM_001042492.3(NF1):c.7847_7850del:p.Gln2616fs	coding	Pathogenic
17	31357245	GTTTAC	TTTTAG	G31357245T	NF1	NM_001042492.3(NF1):c.7870-24_7870-19delinsTTTTAG	noncoding	Pathogenic
17	31357296	GA	G	A31357297G	NF1	NM_001042492.3(NF1):c.7898del:p.Glu2633fs	coding	Pathogenic
17	31357305	CA	C	A31357307C	NF1	NM_001042492.3(NF1):c.7908del:p.Gln2636fs	coding	Pathogenic
17	31357316	T	TA	T31357317A	NF1	NM_000267.3(NF1):c.7854_7855insA:p.Tyr2619fs	coding	Pathogenic
17	31357319	TG	T	G31357320A	NF1	NM_000267.3(NF1):c.7858del:p.Glu2620fs	coding	Pathogenic
17	31357320	GA	G	A31357322T	NF1	NM_001042492.3(NF1):c.7923del:p.Glu2641fs	coding	Pathogenic
17	31357329	G	GC	A31357331C	NF1	NM_000267.3(NF1):c.7868dup:p.Glu2624fs	coding	Pathogenic
17	31357342	TTG	T	G31357346T	NF1	NM_001042492.3(NF1):c.7945_7946GT[1]:p.Phe2650fs	coding	Pathogenic
17	31357352	CAA	C	A31357354G	NF1	NM_000267.3(NF1):c.7892_7893del:p.Lys2631fs	coding	Pathogenic
17	31357352	C	CA	G31357356A	NF1	NM_000267.3(NF1):c.7893dup:p.Val2632fs	coding	Pathogenic
17	31357357	TC	T	C31357358T	NF1	NM_001042492.3(NF1):c.7959del:p.Pro2655fs	coding	Pathogenic
17	31357361	TC	T	C31357363T	NF1	NM_000267.3(NF1):c.7901del:p.Pro2634fs	coding	Pathogenic
17	31358463	CT	C	T31358472C	NF1	NM_001042492.3(NF1):c.7971-8del	noncoding	Benign/Likely_benign
17	31358497	C	CT	A31358499T	NF1	NM_000267.3(NF1):c.7926dup:p.Lys2643Ter	coding	Pathogenic
17	31358497	C	CTT	A31358499T	NF1	NM_001042492.3(NF1):c.7989_7990insTT:p.Lys2664fs	coding	Pathogenic
17	31358510	CCT	C	C31358511G	NF1	NM_001042492.3(NF1):c.8002_8003del:p.Leu2668fs	coding	Pathogenic
17	31358536	AT	A	T31358539G	NF1	NM_001042492.3(NF1):c.8030del:p.Leu2677fs	coding	Pathogenic
17	31358540	GT	G	T31358542A	NF1	NM_000267.3(NF1):c.7970del:p.Leu2656_Leu2657insTer	coding	Pathogenic
17	31358560	TTG	T	T31358563C	NF1	NM_001042492.2(NF1):c.8052_8053TG[1]:p.Val2685fs	coding	Pathogenic
17	31358565	CAG	C	A31358568T	NF1	NM_000267.3(NF1):c.7996_7997del	coding	Pathogenic
17	31358574	GT	G	T31358575G	NF1	NM_000267.3(NF1):c.8003del:p.Val2668fs	coding	Pathogenic
17	31358582	TG	T	G31358583A	NF1	NM_001042492.3(NF1):c.8074del:p.Glu2692fs	coding	Pathogenic
17	31358589	TC	T	C31358593A	NF1	NM_000267.3(NF1):c.8021del:p.Pro2674fs	coding	Pathogenic
17	31358593	CACCAC	A	C31358593A	NF1	NM_000267.3(NF1):c.8021_8026delinsA:p.Pro2674fs	coding	Pathogenic
17	31358613	T	TA	C31358615A	NF1	NM_000267.3(NF1):c.8042dup:p.Tyr2681Ter	coding	Pathogenic
17	31358619	CAA	C	A31358621G	NF1	NM_000267.3(NF1):c.8049_8050del:p.Ser2684fs	coding	Pathogenic
17	31358975	G	GT	A31358980T	NF1	NM_001042492.3(NF1):c.8124dup:p.Asn2709Ter	coding	Pathogenic
17	31360445	TA	T	A31360453G	NF1	NM_001042492.3(NF1):c.8161-34del	noncoding	Benign
17	31360528	TC	T	C31360529T	NF1	NM_001042492.3(NF1):c.8203del:p.Asp2736fs	coding	Pathogenic
17	31360530	TTGATGCCTTG	T	T31360531A	NF1	NM_000267.3(NF1):c.8142_8151del:p.Asp2715fs	coding	Pathogenic
17	31360619	GCA	G	A31360621T	NF1	NM_001042492.3(NF1):c.8295_8296del:p.Leu2766fs	coding	Pathogenic
17	31375012	TTA	T	A31375028T	NF1	NM_001042492.2(NF1):c.*859_*860AT[7]	noncoding	Benign
17	31940442	TCTTA	T	T31940448A	SUZ12	NM_015355.4(SUZ12):c.344_347TTAC[1]:p.Tyr117fs	coding	Pathogenic
17	31976540	AGC	A	G31976541C	SUZ12	NM_015355.4(SUZ12):c.844_845del:p.Ala282fs	coding	Pathogenic
17	31994686	TAA	T	A31994687G	SUZ12	NM_015355.4(SUZ12):c.1561_1562del:p.Lys521fs	coding	Pathogenic
17	31996827	A	AG	A31996830G	SUZ12	NM_015355.4(SUZ12):c.1826dup:p.Glu610fs	coding	Pathogenic
17	32477517	TCAGA	T	C32477522A	PSMD11	NM_002815.4(PSMD11):c.850-3_850del	noncoding	Pathogenic
17	32933275	TGGAGAATGAAGACTGGATCGAAGATGCCTCGTAA	T	A32933278C	TMEM98	NM_015544.3(TMEM98):c.236_263+6del	coding	Pathogenic
17	34998585	CTCTT	C	C34998587T	LIG3	NM_013975.4(LIG3):c.1990-17_1990-14del	noncoding	Benign
17	35101355	TG	T	G35101357T	RAD51D	NM_002878.3(RAD51D):c.748del:p.His250fs	coding	Pathogenic
17	35101357	GT	G	T35101359G	RAD51D	NM_133629.3(RAD51D):c.410del:p.Asn137fs	coding	Pathogenic
17	35103265	TGCCAAGGTCCCGGGCCAGGGTCTTCAGCTCTCGG	T	A35103270G	RAD51D	NM_002878.3(RAD51D):c.693_726del:p.Arg232fs	coding	Pathogenic
17	35103456	TC	T	C35103459T	RAD51D	NM_002878.3(RAD51D):c.664del:p.Glu222fs	coding	Pathogenic
17	35103466	GACCTCC	AACCTCA	G35103466A	RAD51D	NM_133629.3(RAD51D):c.313_319delinsTGAGGTT:p.Gly105_Gln107delinsTer	coding	Pathogenic
17	35103497	G	GA	C35103499A	RAD51D	NM_002878.3(RAD51D):c.623dup:p.Thr209fs	coding	Pathogenic/Likely_pathogenic
17	35103508	CA	C	A35103510C	RAD51D	NM_002878.3(RAD51D):c.612del:p.Val205fs	coding	Pathogenic
17	35106393	GCCAC	G	C35106394A	RAD51D	NM_002878.3(RAD51D):c.565_568del:p.Val189fs	coding	Pathogenic
17	35106397	CA	C	A35106398G	RAD51D	NM_002878.3(RAD51D):c.564del:p.Val189fs	coding	Pathogenic
17	35106453	AC	A	C35106455A	RAD51D	NM_002878.3(RAD51D):c.508del:p.Val170fs	coding	Pathogenic
17	35106455	CA	C	A35106456C	RAD51D	NM_002878.3(RAD51D):c.506del:p.Val169fs	coding	Pathogenic
17	35106478	CT	C	T35106479G	RAD51D	NM_002878.3(RAD51D):c.483del:p.Glu162fs	coding	Pathogenic
17	35107006	G	GAA	G35107007A	RAD51D	NM_002878.3(RAD51D):c.461_462insTT:p.Gln155fs	coding	Pathogenic
17	35107104	CT	C	T35107105G	RAD51D	NM_002878.3(RAD51D):c.363del:p.Ala122fs	coding	Pathogenic/Likely_pathogenic
17	35107107	CCATA	C	T35107110G	RAD51D	NM_133629.3(RAD51D):c.145-630_145-627del	coding	Pathogenic
17	35107380	T	TA	C35107382A	RAD51D	NM_002878.3(RAD51D):c.330dup:p.Ser111Ter	coding	Pathogenic
17	35107384	T	TG	C35107388G	RAD51D	NM_002878.3(RAD51D):c.326dup:p.Gly110fs	coding	Pathogenic
17	35107423	A	AC	A35107426C	RAD51D	NM_133629.3(RAD51D):c.145-944dup	coding	Pathogenic
17	35107439	T	TTA	C35107443A	RAD51D	NM_002878.3(RAD51D):c.270_271dup:p.Lys91fs	coding	Pathogenic/Likely_pathogenic
17	35107440	T	TTA	A35107441T	RAD51D	NM_002878.3(RAD51D):c.270_271insTA:p.Lys91Ter	coding	Pathogenic
17	35118509	GC	G	C35118511A	RAD51D	NM_133629.3(RAD51D):c.144+601del	coding	Pathogenic
17	35118520	G	GCC	G35118521C	RAD51D	NM_002878.3(RAD51D):c.243_244insGG:p.Leu82fs	coding	Pathogenic
17	35118534	G	GTCTTCAGTTCCTCGTAGAGA	A35118557T	RAD51D	NM_002878.3(RAD51D):c.210_229dup:p.Thr77delinsIleSerThrArgAsnTer	coding	Pathogenic
17	35118534	GTCTTCAGTTCCTCGTAGAGA	G	T35118537A	RAD51D	NM_133629.3(RAD51D):c.144+557_144+576del	coding	Pathogenic
17	35118563	ATTCACGGGGAAAGCCG	A	T35118564A	RAD51D	NM_133629.3(RAD51D):c.144+532_144+547del	coding	Pathogenic
17	35118615	AG	A	G35118618C	RAD51D	NM_133629.3(RAD51D):c.144+495del	coding	Pathogenic
17	35119086	TGGAATGTGGAGATCAGGAGCTCACCTTGTAAGACAAGC	T	G35119087C	RAD51D	NM_002878.3(RAD51D):c.131_144+24del	noncoding	Pathogenic/Likely_pathogenic
17	35119114	G	GTT	A35119116T	RAD51D	NM_002878.3(RAD51D):c.140_141insAA:p.Tyr47Ter	coding	Pathogenic
17	35119145	TC	T	C35119147A	RAD51D	NM_133629.3(RAD51D):c.109del:p.Glu37fs	coding	Pathogenic
17	35119155	CA	C	A35119156G	RAD51D	NM_133629.3(RAD51D):c.99del:p.Ala34fs	coding	Pathogenic
17	35119159	AAC	A	A35119160C	RAD51D	NM_002878.3(RAD51D):c.94_95del:p.Val32fs	coding	Pathogenic/Likely_pathogenic
17	35119169	AC	A	C35119171A	RAD51D	NM_002878.3(RAD51D):c.85del:p.Val29fs	coding	Pathogenic/Likely_pathogenic
17	35119532	CT	C	T35119533G	RAD51D	NM_002878.3(RAD51D):c.81del:p.Val28fs	coding	Pathogenic/Likely_pathogenic
17	35119587	GCACA	T	G35119587T	RAD51D	NM_133629.3(RAD51D):c.23_27delinsA:p.Leu8fs	coding	Pathogenic
17	35574898	TTAAG	T	A35574900G	PEX12	NM_000286.3(PEX12):c.*880_*883del	noncoding	Benign
17	35575967	TG	T	G35575970T	PEX12	NM_000286.3(PEX12):c.894del:p.Lys299_Met300insTer	coding	Pathogenic/Likely_pathogenic
17	35575972	AAG	A	A35575975G	PEX12	NM_000286.3(PEX12):c.886_887CT[1]:p.Leu297fs	coding	Pathogenic
17	35576095	A	AAT	C35576099T	PEX12	NM_000286.3(PEX12):c.765_766dup:p.Phe256fs	coding	Pathogenic
17	35576117	T	TA	G35576119A	PEX12	NM_000286.3(PEX12):c.744dup:p.Thr249fs	coding	Pathogenic/Likely_pathogenic
17	35576128	A	AAGGC	A35576134G	PEX12	NM_000286.3(PEX12):c.730_733dup:p.Leu245fs	coding	Pathogenic
17	35576182	CTG	C	G35576184T	PEX12	NM_000286.3(PEX12):c.681-3_681-2del	noncoding	Benign
17	35577446	CTCTT	C	C35577448A	PEX12	NM_000286.3(PEX12):c.268_271del:p.Lys90fs	coding	Pathogenic/Likely_pathogenic
17	35577958	CAA	C	A35577960G	PEX12	NM_000286.3(PEX12):c.62_63del:p.Ile20_Phe21insTer	coding	Pathogenic
17	35577967	A	ATGGC	T35577975C	PEX12	NM_000286.3(PEX12):c.51_54dup:p.Ser19fs	coding	Pathogenic
17	35577990	GC	G	C35577991A	PEX12	NM_000286.3(PEX12):c.31del:p.Ala11fs	coding	Pathogenic
17	35577994	CTG	C	T35577997A	PEX12	NM_000286.3(PEX12):c.24_25CA[1]:p.Thr9fs	coding	Pathogenic
17	35747210	CCTTA	C	A35747214C	GAS2L2	NM_139285.3(GAS2L2):c.887_890delTAAG:p.Val296Glyfs	coding	Pathogenic/Likely_pathogenic
17	35844679	CGGCGGCTATGGTGGGGACAGAGGA	C	T35844691A	TAF15	NM_139215.3(TAF15):c.1392_1415del:p.454_461GYGGDRGG[3]	coding	Benign
17	35844706	CGGCTATGGAGGAGACCGAGGAGGT	C	C35844721T	TAF15	NM_139215.3(TAF15):c.1422_1445del:p.454_461GYGGDRGG[3]	coding	Benign
17	37699167	T	TG	T37699175G	HNF1B	NM_000458.4(HNF1B):c.1561dup:p.Gln521fs	coding	Pathogenic
17	37699418	A	AG	C37699419G	HNF1B	NM_000458.4(HNF1B):c.1535-225_1535-224insC	noncoding	Benign
17	37700999	CT	C	T37701000G	HNF1B	NM_000458.4(HNF1B):c.1517del:p.Gln506fs	coding	Pathogenic
17	37701103	C	CGGGCTGCA	C37701119A	HNF1B	NM_000458.4(HNF1B):c.1406_1413dup:p.Val472fs	coding	Pathogenic
17	37701152	ACT	A	C37701155G	HNF1B	NM_000458.4(HNF1B):c.1361_1362AG[1]:p.Ser455fs	coding	Pathogenic
17	37701155	CTG	C	T37701158C	HNF1B	NM_000458.4(HNF1B):c.1358_1359CA[1]:p.Gln454fs	coding	Pathogenic
17	37704953	TG	T	G37704954A	HNF1B	NM_000458.4(HNF1B):c.1302del:p.Ile434_Met435insTer	coding	Pathogenic
17	37704956	TG	T	G37704957A	HNF1B	NM_000458.4(HNF1B):c.1299del:p.Ile434fs	coding	Pathogenic
17	37704997	T	TG	A37705000G	HNF1B	NM_000458.4(HNF1B):c.1258dup:p.His420fs	coding	Pathogenic
17	37705020	T	TG	C37705026G	HNF1B	NM_000458.4(HNF1B):c.1235dup:p.Val413fs	coding	Pathogenic
17	37709799	ACCGCCCCCATTTTATAGATGAGGAAGAGATCATAAGTAGTCGAGTAACCTGCTCAGGCTACACAGCTATTAAGAGCTGGAGCTGGGATTTGAACCTGGGCAATTGTAACTTCAAAGTTGGTGTTTCTCCCTCCCTAAGCATCGCCCCACCCCATCTACCATTTGTGCTGTGATCTTCGCTGTCATGGTGTCCCATGTCTTTCACTGTTCCAGTTCAAGAAGCTTCTCCCCATCGCCTCCTATCCACTACATCCTGACTTGCTAATGACTCTTCTTGTCAGTACCAAGGGGATGGTAAGGAGGAAGAGGGGGCTTGTGTCAAAGTGAGGTGCTCTCTAAGTTAAAAAATTGGCTTTGGAGGCCTTGGGGGGAGGGATGAATGAACATTTTATCAACACAAATGTCATTGGCAAGCCCCAAAACAAACAGTGTCCCACCGGGCTTGCTCCTTTATGAGGCATTCAATCAATAAAAAGAGAGCAGAACTCTGTCAGATTTATTGGCTGGGTTCAAACCGAACACCTCTTCTACCCGCCAAAGGCTGGGTCACCAGCACTACCTCTCCTTTCCGACTCTGGACAGCCCTCATTTTCCCCTATGGGGCTACAATGGTTCATTGTTTGAGGCAGGCCTTGTGAGAAGTTGTGTTTGTTTTGCCTCTTATCTTATCAGCTCCAGAGCGACAATGGCCCAGGTGTACTCACCATTTTACCATCAGGTGAGAGGAGATTGTGGCCTGGGTCCAGGCTGGCTGGGGAGACTTGCTGTAAAACCGACTGGCTGGTCACCATGGCGCTGTTGCCATGGTGACTGATTGTTGAGGAGGAAGTGATCTCATTGTTTCCCTGCTGGCTGTAGCGCACTCCTGCAAAACAACACAAACCCAGTAGGGAACATTAGTGCCACCAGGGTCCTGGAACAATGACTCGGCACCTCTTGTTTTCAAGGGTGGGTAATAAGAAAATAAAGTTGCTTTCTCCTCCCCTGTCCACCCACAAGAAATATCGGCTGCTTTTCTCCAGGGTAAATATGGCATGTTCTCTATTTAATTCTAGAATGTAAGCGCCACGAGGGCAGGAAATTTTTATCTCGTTTGTTTTGTTCACTGATGTATCCCCAGTGCCTTGGCACTGAATAGCCACTCGGTAAACTTCTGATG	CCTCCTTTTAACTTCATGATTTCTGTCCTTCCCAAAAAATGTAGTGCCTTAAACC	A37709799C	HNF1B	NM_000458.4(HNF1B):c.1046-294_1206+704delinsGGTTTAAGGCACTACATTTTTTGGGAAGGACAGAAATCATGAAGTTAAAAGGAGG	noncoding	Pathogenic
17	37710501	A	ACCATTTTACCATCAGGTGAGAGGAGATTGTGGCCTGGGTCCAGGCTGGCTGGGGAGACTTGCTGTAAAACCGACTGGCTGGTCACCATGGCGCTGTTGCCATGGTGACTGATTGTTGAGGAGGAAGTGATCTCATTGTTTCCCTGCTGGCTGTAGCGCACT	T37710665A	HNF1B	NM_000458.4(HNF1B):c.1047_1206+1dup	noncoding	Pathogenic
17	37710501	ACCATTTTACCATCAGGTGAGAGGAGATTGTGGCCTGGGTCCAGGCTGGCTGGGGAGACTTGCTGTAAAACCGACTGGCTGGTCACCATGGCGCTGTTGCCATGGTGACTGATTGTTGAGGAGGAAGTGATCTCATTGTTTCCCTGCTGGCTGTAGCGCACT	A	A37710504T	HNF1B	NM_000458.4(HNF1B):c.1047_1206+1del	noncoding	Pathogenic
17	37710561	TGCTGTAAAACCGACTGGCTGGTCACCATGG	T	G37710562C	HNF1B	NM_000458.4(HNF1B):c.1118_1147del:p.Ala373_Gln383delinsGlu	coding	Pathogenic
17	37710561	TGCTGTAAAACCGACTGGCTGGTCACCATG	T	T37710564G	HNF1B	NM_000458.4(HNF1B):c.1119_1147del:p.Met374fs	coding	Pathogenic
17	37710570	AC	A	C37710572G	HNF1B	NM_000458.4(HNF1B):c.1138del:p.Val380fs	coding	Pathogenic
17	37710576	T	TG	C37710579G	HNF1B	NM_000458.4(HNF1B):c.1132dup:p.Gln378fs	coding	Pathogenic
17	37710609	CTGAT	C	A37710612T	HNF1B	NM_000458.4(HNF1B):c.1096_1099del:p.Ile366fs	coding	Pathogenic
17	37710653	G	GT	A37710655T	HNF1B	NM_000458.4(HNF1B):c.1055dup:p.Tyr352Ter	coding	Pathogenic
17	37710660	A	AC	T37710662C	HNF1B	NM_000458.4(HNF1B):c.1048dup:p.Val350fs	coding	Pathogenic
17	37710662	TC	T	C37710664T	HNF1B	NM_000458.4(HNF1B):c.1046del:p.Gly349Glufs	coding	Pathogenic
17	37731593	ACCTGACAGCTTGTTTGGAGGAGAGGAGCTGGGCTGGTGGTGGGGGGAGCCGTGGGAGAGCAGAGGGTTCAGGCTGTGAGTCTGGTTGGAGCTATAGGCGTCCATGGCCAGCTTTTGCCGGAATGCCTCCTCCTTCCTGCGGTTTGCAAACCAGTTGTAGACACGGACCTCAGTGACCAAGTTGGAGCCCAGGCCGTGGGCTTTGGAGGGGGACACCCCTCGCTGCAAACATTCTGC	A	A37731598G	HNF1B	NM_000458.4(HNF1B):c.811_1045+1del	noncoding	Pathogenic
17	37731630	T	TG	T37731633G	HNF1B	NM_000458.4(HNF1B):c.1009dup:p.His337fs	coding	Pathogenic
17	37731633	TG	T	G37731639A	HNF1B	NM_000458.4(HNF1B):c.1006del:p.His336fs	coding	Pathogenic/Likely_pathogenic
17	37731633	T	TG	A37731640G	HNF1B	NM_000458.4(HNF1B):c.1006dup:p.His336fs	coding	Pathogenic
17	37731653	CAGAGG	C	A37731654G	HNF1B	NM_000458.4(HNF1B):c.982_986del:p.Pro328fs	coding	Pathogenic
17	37731656	AG	A	G37731659T	HNF1B	NM_000458.4(HNF1B):c.983del:p.Pro328fs	coding	Pathogenic
17	37731666	CTG	C	T37731669A	HNF1B	NM_000458.4(HNF1B):c.970_971CA[1]:p.His324fs	coding	Pathogenic
17	37731672	G	GT	C37731674T	HNF1B	NM_000458.4(HNF1B):c.967dup:p.Thr323fs	coding	Pathogenic
17	37731686	A	AT	A37731688T	HNF1B	NM_000458.4(HNF1B):c.953dup:p.Tyr318Ter	coding	Pathogenic
17	37731690	GC	G	C37731691G	HNF1B	NM_000458.4(HNF1B):c.949del:p.Ala317fs	coding	Pathogenic
17	37731789	TG	T	G37731792C	HNF1B	NM_000458.4(HNF1B):c.850del:p.His284fs	coding	Pathogenic
17	37731799	A	AG	A37731805G	HNF1B	NM_000458.4(HNF1B):c.840dup:p.Ser281fs	coding	Pathogenic
17	37731799	AG	A	G37731804A	HNF1B	NM_000458.4(HNF1B):c.840del:p.Ser281fs	coding	Pathogenic
17	37733576	AG	A	G37733578C	HNF1B	NM_000458.4(HNF1B):c.789del:p.Ala263_Leu264insTer	coding	Pathogenic
17	37733578	G	GCC	T37733581C	HNF1B	NM_000458.4(HNF1B):c.786_787dup:p.Ala263fs	coding	Pathogenic
17	37733638	TG	T	G37733641A	HNF1B	NM_000458.4(HNF1B):c.727del:p.Gln243fs	coding	Pathogenic
17	37733645	C	CGG	C37733649G	HNF1B	NM_000458.4(HNF1B):c.719_720dup:p.Ala241fs	coding	Pathogenic
17	37733648	GCCC	G	C37733651A	HNF1B	NM_000458.4(HNF1B):c.715_717del:p.Gly239del	coding	Pathogenic
17	37733648	GC	G	C37733653A	HNF1B	NM_000458.4(HNF1B):c.717del:p.Ala241fs	coding	Pathogenic
17	37733648	G	GC	A37733654C	HNF1B	NM_000458.4(HNF1B):c.717dup:p.Pro240fs	coding	Pathogenic
17	37733730	C	CTGTT	G37733735T	HNF1B	NM_000458.4(HNF1B):c.632_635dup:p.Ser213fs	coding	Pathogenic
17	37733870	G	GCAGA	A37733897G	HNF1B	NM_000458.4(HNF1B):c.545-73TCTG[7]	noncoding	Benign
17	37739436	T	TTA	C37739439T	HNF1B	NM_000458.4(HNF1B):c.544+2_544+3dup	noncoding	Pathogenic
17	37739437	T	TA	C37739439A	HNF1B	NM_000458.4(HNF1B):c.544+2dup	noncoding	Pathogenic
17	37739449	TC	T	C37739450T	HNF1B	NM_000458.4(HNF1B):c.534del:p.Ile179fs	coding	Pathogenic
17	37739458	GCTTT	G	T37739461G	HNF1B	NM_000458.4(HNF1B):c.522_525del:p.Arg174fs	coding	Pathogenic
17	37739480	CAGAGC	AGGGG	C37739480A	HNF1B	NM_000458.4(HNF1B):c.499_504delinsCCCCT:p.Ala167fs	coding	Pathogenic
17	37739496	TG	T	G37739499T	HNF1B	NM_000458.4(HNF1B):c.487del:p.Gln163fs	coding	Pathogenic
17	37739499	GTCTTCATAGGGGTGCCCTTGTTGAGATGCTGGGAGAGGTGCGACTGGTTCAGGCCGGTGACATCGACCACCTCCC	G	T37739503G	HNF1B	NM_000458.4(HNF1B):c.410_484del:p.Arg137_Lys161del	coding	Pathogenic
17	37739499	GT	G	T37739500C	HNF1B	NM_000458.4(HNF1B):c.484del:p.Thr162fs	coding	Pathogenic
17	37739506	TA	T	A37739507G	HNF1B	NM_000458.4(HNF1B):c.477del:p.Pro159_Met160insTer	coding	Pathogenic/Likely_pathogenic
17	37739511	G	GGGGCTGCA	T37739512G	HNF1B	NM_000458.4(HNF1B):c.472_473insTGCAGCCC:p.Thr158fs	coding	Pathogenic
17	37739512	TG	T	G37739513C	HNF1B	NM_000458.4(HNF1B):c.471del:p.Thr158fs	coding	Pathogenic
17	37739577	T	TG	A37739583G	HNF1B	NM_000458.4(HNF1B):c.406dup:p.Gln136fs	coding	Pathogenic
17	37739591	TTGCTGCA	T	C37739594T	HNF1B	NM_000458.4(HNF1B):c.386_392del:p.Met129fs	coding	Pathogenic
17	37739630	AG	A	G37739633T	HNF1B	NM_000458.4(HNF1B):c.353del:p.Pro118fs	coding	Pathogenic
17	37744542	TGAGCATCC	T	A37744544G	HNF1B	NM_000458.4(HNF1B):c.335_342del:p.Arg112fs	coding	Pathogenic
17	37744544	AGCATCCGGTCCACCTCC	A	A37744547C	HNF1B	NM_000458.4(HNF1B):c.324_340del:p.Glu109fs	coding	Pathogenic
17	37744562	GC	G	C37744565G	HNF1B	NM_000458.4(HNF1B):c.322del:p.Ala108fs	coding	Pathogenic
17	37744600	C	CAGCT	C37744605A	HNF1B	NM_000458.4(HNF1B):c.281_284dup:p.Gln96fs	coding	Pathogenic
17	37744604	TC	T	C37744606T	HNF1B	NM_000458.4(HNF1B):c.280del:p.Glu94fs	coding	Pathogenic
17	37744632	CG	C	G37744633T	HNF1B	NM_000458.4(HNF1B):c.252del:p.Asp84fs	coding	Pathogenic
17	37744651	CTCGT	C	T37744652C	HNF1B	NM_000458.4(HNF1B):c.230_233del:p.Asp77fs	coding	Pathogenic
17	37744667	CGGCCCTT	C	C37744671G	HNF1B	NM_000458.4(HNF1B):c.211_217del:p.Lys71fs	coding	Pathogenic
17	37744673	TTGGCG	T	G37744678C	HNF1B	NM_000458.4(HNF1B):c.207_211del:p.His69fs	coding	Pathogenic
17	37744677	CGT	C	T37744679G	HNF1B	NM_000458.4(HNF1B):c.206_207del:p.His69fs	coding	Pathogenic
17	37744697	TG	T	G37744699A	HNF1B	NM_000458.4(HNF1B):c.187del:p.His63fs	coding	Pathogenic
17	37744741	CA	C	A37744742G	HNF1B	NM_000458.4(HNF1B):c.143del:p.Leu48fs	coding	Pathogenic
17	37744763	AC	A	C37744767G	HNF1B	NM_000458.4(HNF1B):c.121del:p.Gly40_Val41insTer	coding	Pathogenic
17	37744774	C	CG	A37744779G	HNF1B	NM_000458.4(HNF1B):c.110dup:p.Asn38fs	coding	Pathogenic
17	37744814	TC	T	C37744816T	HNF1B	NM_000458.4(HNF1B):c.70del:p.Glu24fs	coding	Pathogenic
17	37744823	A	AC	G37744828C	HNF1B	NM_000458.4(HNF1B):c.61dup:p.Val21fs	coding	Pathogenic
17	37744838	AG	A	G37744841C	HNF1B	NM_000458.4(HNF1B):c.46del:p.Leu16fs	coding	Pathogenic
17	37744866	AC	A	C37744867G	HNF1B	NM_000458.4(HNF1B):c.18del:p.Ser7fs	coding	Pathogenic
17	38339517	ACCTG	GTAGATCA	A38339517G	GPR179	NM_001004334.4(GPR179):c.799_803delinsTGATCTAC:p.Gln267_Val268delinsTer	coding	Pathogenic/Likely_pathogenic
17	38343009	T	TGA	G38343013A	GPR179	NM_001004334.4(GPR179):c.779_780dup:p.Pro262fs	coding	Pathogenic
17	38343142	C	CT	G38343144T	GPR179	NM_001004334.4(GPR179):c.647dup:p.Ala217fs	coding	Pathogenic
17	38343511	TG	T	G38343517A	GPR179	NM_001004334.4(GPR179):c.278del:p.Pro93fs	coding	Pathogenic
17	38343602	AG	A	G38343603A	GPR179	NM_001004334.4(GPR179):c.187del:p.Leu63fs	coding	Pathogenic
17	39665382	G	GCGAGGTGT	G39665393A	TCAP	NM_003673.3(TCAP):c.26_33dup:p.Glu12fs	coding	Pathogenic
17	39665447	CTG	C	G39665449C	TCAP	NM_003673.4(TCAP):c.90_91del:p.Ser31fs	coding	Pathogenic
17	39665466	AGG	A	G39665469T	TCAP	NM_003673.3(TCAP):c.110_110+1del	coding	Pathogenic
17	39665740	CCA	C	C39665741G	TCAP	NM_003673.4(TCAP):c.136_137del:p.Gln46fs	coding	Pathogenic
17	39674672	A	AG	A39674676G	PGAP3	NM_033419.5(PGAP3):c.439dup:p.Leu147fs	coding	Pathogenic
17	39684626	T	TG	A39684632G	PGAP3	NM_033419.5(PGAP3):c.402dup:p.Met135fs	coding	Pathogenic
17	39684748	CA	C	A39684749C	PGAP3	NM_033419.5(PGAP3):c.280del:p.Trp94fs	coding	Pathogenic
17	39687933	C	CCGGCTCA	T39687944C	PGAP3	NM_033419.5(PGAP3):c.75_81dup:p.Val28Ter	coding	Pathogenic
17	39723965	GTTGAGGGAAAACACA	G	T39723967C	ERBB2	NM_004448.3(ERBB2):c.2264_2278del:p.Leu755_Thr759del	coding	Pathogenic
17	39723966	TT	CC	T39723966C	ERBB2	NM_004448.3(ERBB2):c.2263_2264delinsCC:p.Leu755Pro	coding	Pathogenic/Likely_pathogenic
17	39724745	G	GTGTGGGCTC	C39724755T	ERBB2	NM_004448.3(ERBB2):c.2328_2336dup:p.Val777_Ser779dup	coding	Pathogenic
17	39724748	T	TGGGCTCCCC	A39724758G	ERBB2	NM_004448.3(ERBB2):c.2331_2339dup:p.Gly778_Pro780dup	coding	Pathogenic
17	39724750	G	GGGCTCCCCA	C39724752G	ERBB2	NM_004448.3(ERBB2):c.2333_2334insGCTCCCCAG:p.Ser779_Pro780insLeuProSer	coding	Pathogenic
17	39970658	AACAC	A	A39970681T	GSDMA	NM_178171.5(GSDMA):c.558+12AC[11]	noncoding	Benign
17	40089358	GC	G	C40089360T	THRA	NM_001190919.1(THRA):c.1110+27del	coding	Pathogenic
17	40632281	TCTCA	T	C40632284A	SMARCE1	NM_003079.5(SMARCE1):c.624_627del:p.Ser208fs	coding	Pathogenic
17	40635946	CA	C	A40635947G	SMARCE1	NM_003079.5(SMARCE1):c.525del:p.Ala176fs	coding	Pathogenic
17	40636017	GC	A	G40636017A	SMARCE1	NM_003079.5(SMARCE1):c.454_455delinsT:p.Ala152fs	coding	Pathogenic
17	40818962	T	TGCCGCCGTGGCCGCCGCTGGAGCTTCC	C40818993G	KRT10	NM_000421.4(KRT10):c.1546_1572dup:p.Gly516_Gly524dup	coding	Benign
17	40818973	CCG	C	G40818975C	KRT10	NM_000421.4(KRT10):c.1560_1561del:p.Gly521fs	coding	Pathogenic
17	40819055	TGCCGCCGTGGCC	T	T40819075G	KRT10	NM_000421.4(KRT10):c.1456_1467GGCCACGGCGGC[1]:p.486_489GHGG[1]	coding	Benign
17	40819085	C	CG	A40819088G	KRT10	NM_000421.4(KRT10):c.1449dup:p.Gly484fs	coding	Pathogenic
17	40819625	CG	TC	C40819625T	KRT10	NM_000421.4(KRT10):c.1264_1265delinsGA:p.Arg422Glu	coding	Pathogenic
17	41034702	G	GCAGCAGCTTGGCTGGCAGCAGCTGGTCTCA	A41034758T	KRTAP1-3	NM_030966.2(KRTAP1-3):c.90_119dup:p.Glu31_Cys40dup	coding	Benign
17	41034721	C	CAGCTGGTCTCACAGCAGCTTGGCTGGCAGG	C41034751G	KRTAP1-3	NM_030966.2(KRTAP1-3):c.100_101insCCTGCCAGCCAAGCTGCTGTGAGACCAGCT:p.Cys34_Cys35insSerCysGlnProSerCysCysGluThrSer	coding	Benign
17	41041188	GC	G	C41041189A	KRTAP1-1	NM_030967.3(KRTAP1-1):c.209del:p.Cys70fs	coding	Benign
17	41501359	C	CT	C41501362T	KRT13	NM_153490.3(KRT13):c.1273dup:p.Ser425fs	coding	Benign
17	41583314	TG	T	G41583315T	KRT14	NM_000526.5(KRT14):c.1194del:p.Glu397_Tyr398insTer	coding	Pathogenic
17	41583383	TCTC	T	C41583386G	KRT14	NM_000526.5(KRT14):c.1123_1125del:p.Glu375del	coding	Pathogenic
17	41586520	AGC	A	G41586521A	KRT14	NM_000526.5(KRT14):c.313_314del:p.Ala105fs	coding	Pathogenic
17	41586742	GA	G	A41586743T	KRT14	NM_000526.5(KRT14):c.92del:p.Ile31fs	coding	Pathogenic
17	41586817	GC	G	C41586818G	KRT14	NM_000526.5(KRT14):c.17del:p.Arg6fs	coding	Pathogenic
17	41610341	CGCCCTCCAGCAGGCGGCGGTAGGTGG	GCC	C41610341G	KRT16	NM_005557.4(KRT16):c.1244_1270delinsGGC:p.Ala415_Glu424delinsGlyGln	coding	Pathogenic
17	41612297	TAGG	T	A41612301C	KRT16	NM_005557.4(KRT16):c.386_388CCT[1]:p.Ser130del	coding	Pathogenic
17	41612315	TT	CC	T41612315C	KRT16	NM_005557.4(KRT16):c.373_374delinsGG:p.Asn125Gly	coding	Pathogenic
17	41624214	AGGTAGGAGGCCAGGC	A	A41624218C	KRT17	NM_000422.3(KRT17):c.281_295del:p.Arg94_Tyr98del	coding	Pathogenic
17	41624217	TAGG	T	A41624221C	KRT17	NM_000422.3(KRT17):c.287_289CCT[1]:p.Ser97del	coding	Pathogenic
17	41756007	A	AC	T41756012C	JUP	NM_002230.4(JUP):c.2087-116dup	noncoding	Benign
17	41757421	CCA	C	C41757422G	JUP	NM_002230.4(JUP):c.2038_2039del:p.Trp680fs	coding	Pathogenic
17	41757750	AC	A	C41757751G	JUP	NM_002230.4(JUP):c.1807del:p.Val603fs	coding	Pathogenic
17	41763017	AGCTTCACG	A	G41763018A	JUP	NM_002230.4(JUP):c.1455_1462del:p.Val486fs	coding	Pathogenic
17	41771666	CT	C	T41771667G	JUP	NM_002230.4(JUP):c.188del:p.Gln63fs	coding	Pathogenic
17	41771736	T	TTGC	A41771745C	JUP	NM_002230.4(JUP):c.113_115GCA[3]:p.Ser39dup	coding	Pathogenic
17	41786567	TGC	T	G41786570C	JUP	NM_002230.4(JUP):c.-9+19_-9+20del	noncoding	Benign
17	41813025	TCCAGGCACCATGTTCCCCGCGGGCCCCCCCAGCCACAGCCTCCTCCGGCTCCCCCTGCTGCAGTTGCTGCTACTGGTGGTGCAGGC	T	C41813027G	FKBP10	NM_021939.4(FKBP10):c.-8_78del:p.Met1fs	noncoding	Pathogenic
17	41819219	T	TC	A41819226C	FKBP10	NM_021939.3(FKBP10):c.743dup:p.Gln249fs	coding	Pathogenic
17	41819306	TC	T	C41819313G	FKBP10	NM_021939.3(FKBP10):c.831del:p.Gly278fs	coding	Pathogenic
17	41819306	T	TC	G41819314C	FKBP10	NM_021939.3(FKBP10):c.831dup:p.Gly278fs	coding	Pathogenic
17	41819356	CACT	C	T41819359A	FKBP10	NM_021939.3(FKBP10):c.877_879del:p.Tyr293del	coding	Pathogenic
17	41819371	T	TTGATGGAC	G41819380T	FKBP10	NM_021939.3(FKBP10):c.890_897dup:p.Gly300Ter	coding	Pathogenic/Likely_pathogenic
17	41819559	A	AT	A41819561T	FKBP10	NM_021939.3(FKBP10):c.948dup:p.Ile317fs	coding	Pathogenic
17	41819587	GA	G	A41819588T	FKBP10	NM_021939.3(FKBP10):c.976del:p.Met326fs	coding	Pathogenic
17	41820469	C	CG	C41820479G	FKBP10	NM_021939.4(FKBP10):c.1256+17dup	noncoding	Benign/Likely_benign
17	41820960	G	GC	A41820967C	FKBP10	NM_021939.3(FKBP10):c.1276dup:p.Gln426fs	coding	Pathogenic
17	41820961	CC	A	C41820961A	FKBP10	NM_021939.3(FKBP10):c.1271_1272delinsA:p.Ala424fs	coding	Pathogenic
17	41821026	ATG	A	T41821033G	FKBP10	NM_021939.3(FKBP10):c.1343_1344delTG	coding	Pathogenic
17	41823015	GCTC	G	C41823018T	FKBP10	NM_021939.3(FKBP10):c.*610_*612del	noncoding	Benign
17	41935345	TA	T	A41935347G	ODAD4	NM_031421.5(ODAD4):c.245del:p.Lys82fs	coding	Pathogenic
17	41936500	A	AT	A41936501T	ODAD4	NM_031421.5(ODAD4):c.425_426insT:p.Lys142fs	coding	Pathogenic
17	42118011	ACTGAAGCTGAGGAGAGAGAGAGACGTCAGGGATGGGGGG	A	C42118035G	KAT2A	NM_021078.3(KAT2A):c.1181-33_1186del	coding	Benign
17	42218217	TG	T	G42218225T	STAT5B	NM_012448.4(STAT5B):c.1102del:p.Gln368fs	coding	Pathogenic
17	42218217	T	TG	T42218226G	STAT5B	NM_012448.3(STAT5B):c.1102dup:p.Gln368fs	coding	Pathogenic
17	42323632	G	GA	G42323636A	STAT3	NM_139276.3(STAT3):c.1601-10dup	noncoding	Benign
17	42325037	TCAC	T	C42325041A	STAT3	NM_003150.4(STAT3):c.1384_1386GTG[1]:p.Val463del	coding	Pathogenic
17	42329460	G	GT	A42329462T	STAT3	NM_003150.4(STAT3):c.1234-4dup	noncoding	Benign
17	42329773	GTCTC	G	C42329775G	STAT3	NM_139276.3(STAT3):c.1110-1_1112del	coding	Pathogenic
17	42337519	TCGTC	T	C42337523G	STAT3	NM_003150.4(STAT3):c.709_712del:p.Asp237fs	coding	Pathogenic
17	42405163	T	TG	A42405165G	CAVIN1	NM_012232.6(CAVIN1):c.696dup:p.Lys233fs	coding	Pathogenic
17	42405333	TC	T	C42405335G	CAVIN1	NM_012232.6(CAVIN1):c.526del:p.Glu176fs	coding	Pathogenic
17	42405338	CTCTT	C	T42405341A	CAVIN1	NM_012232.6(CAVIN1):c.518_521del:p.Lys173fs	coding	Pathogenic
17	42405378	T	TTCAC	T42405384C	CAVIN1	NM_012232.6(CAVIN1):c.478_481dup:p.Lys161fs	coding	Pathogenic
17	42422735	C	CA	C42422737A	CAVIN1	NM_012232.6(CAVIN1):c.362dup:p.Lys122fs	coding	Pathogenic
17	42422937	AC	A	C42422939A	CAVIN1	NM_012232.6(CAVIN1):c.160del:p.Val54fs	coding	Pathogenic
17	42422962	AC	A	C42422963T	CAVIN1	NM_012232.6(CAVIN1):c.135del:p.Lys45fs	coding	Pathogenic
17	42536320	C	CGGGGCCGGGGGCGCGGCAGGCGACG	A42536346G	NAGLU	NM_000263.4(NAGLU):c.49_73dup:p.Glu25fs	coding	Pathogenic
17	42536480	G	GGCGGC	C42536494G	NAGLU	NM_000263.4(NAGLU):c.212_216GCGCG[3]:p.Val75fs	coding	Pathogenic
17	42537493	AT	A	T42537494G	NAGLU	NM_000263.4(NAGLU):c.480del:p.Asn160fs	coding	Pathogenic
17	42537516	TGGAGCGGCCA	T	C42537521G	NAGLU	NM_000263.4(NAGLU):c.507_516del:p.Ser169fs	coding	Pathogenic
17	42538449	G	GC	T42538456C	NAGLU	NM_000263.4(NAGLU):c.648dup:p.Ser217fs	coding	Pathogenic
17	42541069	TC	T	C42541071T	NAGLU	NM_000263.4(NAGLU):c.886del:p.Leu296fs	coding	Pathogenic
17	42541085	CAA	C	A42541087G	NAGLU	NM_000263.4(NAGLU):c.902_903del:p.Lys301fs	coding	Pathogenic
17	42541127	C	CA	T42541130A	NAGLU	NM_000263.4(NAGLU):c.944dup:p.Asn315fs	coding	Pathogenic
17	42543164	G	GAGCC	T42543173A	NAGLU	NM_000263.4(NAGLU):c.1159_1162AGCC[3]:p.Val390fs	coding	Pathogenic
17	42543293	TGC	T	G42543294C	NAGLU	NM_000263.4(NAGLU):c.1288_1289del:p.Ala430fs	coding	Pathogenic
17	42543452	G	GT	A42543454T	NAGLU	NM_000263.4(NAGLU):c.1447dup:p.Tyr483fs	coding	Pathogenic/Likely_pathogenic
17	42543556	TG	T	G42543558T	NAGLU	NM_000263.4(NAGLU):c.1552del:p.Val518fs	coding	Pathogenic
17	42543949	T	TG	T42543951G	NAGLU	NM_000263.4(NAGLU):c.1944dup:p.Trp649fs	coding	Pathogenic
17	42565476	C	CGT	A42565488T	COASY	NM_025233.7(COASY):c.1395_1396TG[6]:p.Ile469Ter	coding	Pathogenic/Likely_pathogenic
17	42565719	CAG	C	A42565722C	COASY	NM_025233.7(COASY):c.1547_1548AG[1]:p.Ser517fs	coding	Pathogenic
17	42573007	CT	C	T42573008C	PSMC3IP	NM_016556.4(PSMC3IP):c.614del:p.Glu205fs	coding	Pathogenic
17	42573019	TTCC	T	C42573024G	PSMC3IP	NM_198204.2(MLX):c.*1418_*1420CCT[1]	coding	Pathogenic
17	42688979	T	TC	T42688981C	CNTNAP1	NM_003632.3(CNTNAP1):c.1561dup:p.Leu521fs	coding	Pathogenic
17	42693444	CCT	C	C42693445G	CNTNAP1	NM_003632.3(CNTNAP1):c.2901_2902del:p.Cys968fs	coding	Pathogenic
17	42695518	CAGAT	C	G42695520T	CNTNAP1	NM_003632.3(CNTNAP1):c.2993-1_2995del	noncoding	Pathogenic
17	42695534	C	CT	G42695538T	CNTNAP1	NM_003632.3(CNTNAP1):c.3009dup:p.Glu1004Ter	coding	Pathogenic
17	42794833	ATCT	A	T42794837C	WNK4	NM_032387.5(WNK4):c.2413_2415TCT[1]:p.Ser806del	coding	Benign
17	42798482	A	AG	C42798486G	COA3	NM_001040431.3(COA3):c.199dup:p.Leu67fs	coding	Pathogenic
17	42900952	TC	T	C42900955A	G6PC1	NM_000151.4(G6PC1):c.79del:p.Gln27fs	coding	Pathogenic
17	42901010	TC	T	C42901012T	G6PC1	NM_000151.4(G6PC1):c.136del:p.Leu46fs	coding	Pathogenic/Likely_pathogenic
17	42901025	GGT	G	G42901026T	G6PC1	NM_000151.4(G6PC1):c.150_151del:p.Trp50fs	coding	Pathogenic/Likely_pathogenic
17	42903959	TG	T	G42903962T	G6PC1	NM_000151.4(G6PC1):c.262del:p.Val88fs	coding	Pathogenic
17	42907558	G	GTA	C42907563T	G6PC1	NM_000151.4(G6PC1):c.377_378TA[3]:p.Tyr128fs	coding	Pathogenic
17	42907569	GATGGTCACATCTA	G	A42907570C	G6PC1	NM_000151.4(G6PC1):c.388_400del:p.Met130fs	coding	Pathogenic
17	42907570	AT	TA	A42907570T	G6PC1	NM_000151.4(G6PC1):c.388_389delinsTA:p.Met130Ter	coding	Pathogenic
17	42911329	CCTT	C	T42911332G	G6PC1	NM_000151.4(G6PC1):c.980_982del:p.Phe327del	coding	Pathogenic/Likely_pathogenic
17	42969192	GGC	G	C42969194G	PTGES3L	NM_001142653.1(PTGES3L):c.463-8_463-7del	noncoding	Benign
17	43039999	C	CAT	C43040005T	BRCA1	NM_007294.3(BRCA1):c.*5678_*5679insAT	noncoding	Benign
17	43044293	GGTGGAAGTGTTTGCTACCAAGTTTATTTGCAGTGTTAACAGCACAACATTTACAAAACGTATTTTGTACAATCAAGTCTTCACTGCCCTTGCACACTGGGGGGGCTAGGGAAGACCTAGTCCTTCCAACAGCTATAAACAGTCCTGGATAATGGGTTTATGAAAAACACTTTTTCTTCCTTCAGCAAGCAAAATTATTTATGAAGCTGTATGGTTTCAGCAACAGGGAGCAAAGGAAAAAAATCACCTCAAAGAAAGCAACAGCTTCCTTCCTGGTGGGATCTGTCATTTTATAGATATGAAATATTCATGCCAGAGGTCTTATATTTTAAGAGGAATGGATTATATACCAGAGCTACAACAATAAACATTTTACTTATTACTAATGAGGAATTAGAAGACTGTCTTTGGAAACCGGTTCTTGAAAATCTTCTGCTGTTTTAGAACACATTCTTTAGAAATCTAGCAAATATATCTCAGACTTTTAGAAATCTCTTCTAGTTTCATTTTCCTTTTTTTTTTTTTTTTTTTGAGCCACAGTCTCACTGTCACCCAGGCTGGAGTGCCGTGGTATGATCTTGGCTCACTGCAACCTCCACCTCCCGGGCTGAAGTGATTCTCCTGCCTTAGCCACCTGAGTAGCTGGGATTACAGGTGTCCACCACCATGACCGGCTAATTTCTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTTTCGAACTCCTGACCTCCAGTGATCTGCCCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCATGCCCAGGTTTCAAGTTTCCTTTTCATTTCTAATACCTGCCTCAGAATTTCCTCCCCAATGTTCCACTCCAACATTTGAGAACTGCCCAAGGACTATTCTGACTTTAAGTCACATAATCGATCCCAAGCACTCTCCTTCCATTGAAGGGTCTGACTCTCTGCCTTTGTGAACACAGGGTTTTAGAGAAGTAAACTTAGGGAAACCAGCTATTCTCTTGAGGCCAAGCCACTCTGTGCTTCCAGCCCTAAGCCAACAACAGCCTGAATAGAAAGAATAGGGCTGATAAATAATGAATCAGCATCTTGCTCAATTGGTGGCGTTTAAATGGTTTTAAAATCTTCTCAGGTGAAAAATTACCATAATTTTGTGCTCATGGCAGATTTCCAAGGGAGACTTCAAGCAGAAAATCTTTAAGGGACCCTTGCATAGCCAGAAGTCCTTTTCAGGCTGATGTACATAAAATATTTAGTAGCCAGGACAGTAGAAGGACTGAAGAGTGAGAGGAGCTCCCAGGGCCTGGAAAGGCCACTTTGTAAGCTCATTCTTGGGGTCCTGTGGCTCTGTACCTGTGGCTGGCTGCAGTCAGTAGTGGCTGTGGGGGATCTGGGGTATCAGGTAGGTGTCCAGCTCCTGGCACTGGTAGAGTGCTACACTGTCCAACACCCACTCTCGGGTCACCACAGGTGCCTCACACATCTGCCCAATT	G	T43044295C	BRCA1	NM_007294.3(BRCA1):c.5468_*1383del	noncoding	Pathogenic
17	43044804	CT	C	T43044823G	BRCA1	NM_007294.4(BRCA1):c.*873del	noncoding	Benign
17	43045571	GGACA	G	A43045573T	BRCA1	NM_007294.4(BRCA1):c.*103_*106del	noncoding	Pathogenic
17	43045705	TATCAGGTAGGTGTCCAGCTCCTGGCACTGGTAGAGTGCTACACTGTCCAACACCCACTCTCG	T	A43045706G	BRCA1	NM_007294.4(BRCA1):c.5503_5564del:p.Arg1835fs	coding	Pathogenic
17	43045709	AG	A	G43045711T	BRCA1	NM_007294.4(BRCA1):c.5560del:p.Tyr1853_Leu1854insTer	coding	Pathogenic
17	43045709	AGGTAG	A	G43045711T	BRCA1	NM_007294.4(BRCA1):c.5556_5560del:p.Tyr1853fs	coding	Pathogenic
17	43045711	G	GT	A43045713T	BRCA1	NM_007294.4(BRCA1):c.5558dup:p.Tyr1853Ter	coding	Pathogenic
17	43045711	GTAGGT	G	T43045712G	BRCA1	NM_007294.4(BRCA1):c.5554_5558del:p.Thr1852fs	coding	Pathogenic
17	43045713	AGGTGTCCAGCTCCTGGCACT	A	G43045717A	BRCA1	NM_007294.4(BRCA1):c.5537_5556del:p.Gln1846fs	coding	Pathogenic
17	43045714	GGT	G	G43045717C	BRCA1	NM_007294.4(BRCA1):c.5552_5553AC[1]:p.Thr1852fs	coding	Pathogenic
17	43045716	T	TG	T43045718G	BRCA1	NM_007294.4(BRCA1):c.5553dup:p.Thr1852fs	coding	Pathogenic
17	43045718	TC	T	C43045720A	BRCA1	NM_007294.4(BRCA1):c.5551del:p.Asp1851fs	coding	Pathogenic
17	43045721	AG	A	G43045722C	BRCA1	NM_007294.4(BRCA1):c.5548del:p.Leu1850fs	coding	Pathogenic
17	43045733	TG	T	G43045735T	BRCA1	NM_007294.4(BRCA1):c.5536del:p.Gln1846fs	coding	Pathogenic
17	43045735	GT	G	T43045736A	BRCA1	NM_007294.4(BRCA1):c.5534del:p.Tyr1845fs	coding	Pathogenic
17	43045736	TAG	T	A43045739T	BRCA1	NM_007294.4(BRCA1):c.5530_5531CT[1]:p.Tyr1845fs	coding	Pathogenic
17	43045736	T	TA	G43045738A	BRCA1	NM_007294.4(BRCA1):c.5533dup:p.Tyr1845fs	coding	Pathogenic
17	43045736	T	TC	A43045737C	BRCA1	NM_007294.4(BRCA1):c.5533_5534insG:p.Tyr1845Ter	coding	Pathogenic
17	43045738	GAGTGCTAC	G	G43045740C	BRCA1	NM_007294.4(BRCA1):c.5524_5531del:p.Val1842fs	coding	Pathogenic
17	43045744	TA	T	A43045745C	BRCA1	NM_007294.4(BRCA1):c.5525del:p.Val1842fs	coding	Pathogenic
17	43045748	CT	C	T43045749G	BRCA1	NM_007294.4(BRCA1):c.5521del:p.Ser1841fs	coding	Pathogenic
17	43045749	T	TGTCCAACACCCACTCTCGGGTCACCACAGGTGCCTCACACATCTGCCCAATTGCTGGAGACAGA	A43045815T	BRCA1	NM_007294.3(BRCA1):c.5468-11_5520dup	coding	Pathogenic
17	43045751	TC	T	C43045753A	BRCA1	NM_007294.4(BRCA1):c.5518del:p.Asp1840fs	coding	Pathogenic
17	43045757	AC	A	C43045760A	BRCA1	NM_007294.4(BRCA1):c.5512del:p.Val1838fs	coding	Pathogenic
17	43045758	CCCACTCTCGGGTCA	C	T43045763A	BRCA1	NM_007294.4(BRCA1):c.5498_5511del:p.Val1833fs	coding	Pathogenic
17	43045759	CCA	C	A43045761T	BRCA1	NM_007294.4(BRCA1):c.5509_5510del:p.Trp1837fs	coding	Pathogenic
17	43045759	CCACTCTCGGGTCACCACAGGTGCCT	C	T43045763A	BRCA1	NM_007294.4(BRCA1):c.5486_5510del:p.Glu1829fs	coding	Pathogenic
17	43045763	TCTCGGGTCAC	T	T43045765A	BRCA1	NM_007294.4(BRCA1):c.5497_5506del:p.Val1833fs	coding	Pathogenic
17	43045763	TCTCG	T	C43045764G	BRCA1	NM_007294.4(BRCA1):c.5503_5506del:p.Arg1835fs	coding	Pathogenic
17	43045764	CTCGGGTCACC	T	C43045764T	BRCA1	NM_007294.4(BRCA1):c.5496_5506delinsA:p.Val1833fs	coding	Pathogenic
17	43045766	C	CGG	T43045770G	BRCA1	NM_007294.4(BRCA1):c.5502_5503dup:p.Arg1835fs	coding	Pathogenic
17	43045766	C	CG	T43045770G	BRCA1	NM_007294.4(BRCA1):c.5503dup:p.Arg1835fs	coding	Pathogenic
17	43045766	CG	C	G43045769T	BRCA1	NM_007294.4(BRCA1):c.5503del:p.Arg1835fs	coding	Pathogenic
17	43045770	TCACC	T	C43045771A	BRCA1	NM_007294.4(BRCA1):c.5496_5499del:p.Val1833fs	coding	Pathogenic
17	43045774	C	CAA	C43045776A	BRCA1	NM_007294.4(BRCA1):c.5495_5496insTT:p.Val1833fs	coding	Pathogenic
17	43045776	C	CAA	G43045778A	BRCA1	NM_007294.4(BRCA1):c.5493_5494insTT:p.Val1832fs	coding	Pathogenic
17	43045777	AG	A	G43045779T	BRCA1	NM_007294.4(BRCA1):c.5492del:p.Pro1831fs	coding	Pathogenic
17	43045779	GT	G	T43045780G	BRCA1	NM_007294.4(BRCA1):c.5490del:p.Pro1831fs	coding	Pathogenic
17	43045784	TCA	T	C43045789T	BRCA1	NM_007294.4(BRCA1):c.5480_5481TG[2]:p.Cys1828_Glu1829delinsTer	coding	Pathogenic
17	43045784	T	TC	A43045786C	BRCA1	NM_007294.4(BRCA1):c.5485dup:p.Glu1829fs	coding	Pathogenic
17	43045786	AC	A	C43045787A	BRCA1	NM_007294.4(BRCA1):c.5483del:p.Cys1828fs	coding	Pathogenic
17	43045788	ACATCTGCC	A	T43045791A	BRCA1	NM_007294.4(BRCA1):c.5474_5481del:p.Gly1825fs	coding	Pathogenic
17	43045790	A	ATC	G43045794C	BRCA1	NM_007294.4(BRCA1):c.5478_5479dup:p.Met1827fs	coding	Pathogenic
17	43045792	CTGCCCAAT	C	C43045796T	BRCA1	NM_007294.3(BRCA1):c.5470_5477delATTGGGCA:p.Ile1824Aspfs	coding	Pathogenic
17	43046757	C	CA	G43046774A	BRCA1	NM_007294.3(BRCA1):c.5467+870dup	noncoding	Benign
17	43047641	AC	A	C43047643A	BRCA1	NM_007294.3(BRCA1):c.5467+1del	noncoding	Pathogenic
17	43047643	C	CA	T43047645A	BRCA1	NM_007294.4(BRCA1):c.5466dup:p.Ala1823fs	coding	Pathogenic
17	43047645	T	TA	G43047646A	BRCA1	NM_007294.4(BRCA1):c.5464_5465insT:p.His1822fs	coding	Pathogenic
17	43047646	G	GA	G43047647A	BRCA1	NM_007294.4(BRCA1):c.5463_5464insT:p.His1822fs	coding	Pathogenic
17	43047658	CCT	C	C43047661G	BRCA1	NM_007294.4(BRCA1):c.5448_5449AG[1]:p.Glu1817fs	coding	Pathogenic
17	43047669	GC	G	C43047670A	BRCA1	NM_007294.4(BRCA1):c.5440del:p.Ala1814fs	coding	Pathogenic
17	43047679	G	GCT	A43047681T	BRCA1	NM_007294.4(BRCA1):c.5430_5431insAG:p.Gln1811fs	coding	Pathogenic
17	43047679	G	GTC	C43047680T	BRCA1	NM_007294.4(BRCA1):c.5430_5431insGA:p.Gln1811fs	coding	Pathogenic
17	43047682	C	CA	C43047685A	BRCA1	NM_007294.4(BRCA1):c.5427dup:p.Val1810fs	coding	Pathogenic
17	43047690	A	AT	G43047693T	BRCA1	NM_007294.4(BRCA1):c.5419dup:p.Ile1807fs	coding	Pathogenic
17	43047690	AT	A	T43047692G	BRCA1	NM_007294.4(BRCA1):c.5419del:p.Ile1807fs	coding	Pathogenic
17	43047692	TG	T	G43047695T	BRCA1	NM_007294.4(BRCA1):c.5417del:p.Pro1806fs	coding	Pathogenic
17	43047695	GTGGACACC	G	T43047696C	BRCA1	NM_007294.4(BRCA1):c.5407_5414del:p.Gly1803fs	coding	Pathogenic
17	43049113	ATACT	A	T43049118G	BRCA1	NM_007294.3(BRCA1):c.5406+4_5406+7del	noncoding	Pathogenic/Likely_pathogenic
17	43049117	TTAC	T	A43049119G	BRCA1	NM_007294.3(BRCA1):c.5406+1_5406+3del	noncoding	Pathogenic/Likely_pathogenic
17	43049118	TA	T	A43049119C	BRCA1	NM_007294.3(BRCA1):c.5406+2del	noncoding	Pathogenic
17	43049128	AG	A	G43049131T	BRCA1	NM_007294.4(BRCA1):c.5398del:p.Gly1801fs	coding	Pathogenic
17	43049129	GGGTGAATGATGAAAGCTCCTTCACCACA	G	G43049131A	BRCA1	NM_007294.4(BRCA1):c.5370_5397del:p.Val1791fs	coding	Pathogenic
17	43049135	AT	A	T43049136G	BRCA1	NM_007294.4(BRCA1):c.5391del:p.Phe1798fs	coding	Pathogenic
17	43049137	G	GA	T43049139A	BRCA1	NM_007294.4(BRCA1):c.5389dup:p.Ser1797fs	coding	Pathogenic
17	43049139	TGAAAGCTCCTTCACCACAGAAGCACCACACAGCTGTACCATCCATTCCAGTTGATCTAAAATGGACATTTAGATGTAAAATCACTGCAGTAATCTGCATACTTAACCCAGGCCCTCTACCCTACACTCTCCGGATGAAGGCTTATAGCAAGACCTCTCAATGGGAGAGTCTGTCTCTCTGCTCCAAAGGACAATGGTCTTAAAATAGTAGGGGTATGGATTTTAAGTCAATTTGCCACTGATATGCCATGTAC	T	G43049140T	BRCA1	NM_007294.3(BRCA1):c.5333-198_5387del	coding	Pathogenic
17	43049140	GA	G	A43049143G	BRCA1	NM_007294.4(BRCA1):c.5386del:p.Ser1796fs	coding	Pathogenic
17	43049140	G	GA	G43049144A	BRCA1	NM_007294.4(BRCA1):c.5386dup:p.Ser1796fs	coding	Pathogenic
17	43049141	AAAGCTCCTTCACCACAG	A	T43049146A	BRCA1	NM_007294.4(BRCA1):c.5369_5385del:p.Ser1790fs	coding	Pathogenic
17	43049158	GA	G	A43049160G	BRCA1	NM_007294.4(BRCA1):c.5368del:p.Ser1790fs	coding	Pathogenic
17	43049160	AG	A	G43049161C	BRCA1	NM_007294.4(BRCA1):c.5366del:p.Ala1789fs	coding	Pathogenic
17	43049161	GC	T	G43049161T	BRCA1	NM_007294.4(BRCA1):c.5365_5366delinsA:p.Ala1789fs	coding	Pathogenic
17	43049164	CCACA	TCACT	C43049164T	BRCA1	NM_007294.4(BRCA1):c.5359_5363delinsAGTGA:p.Cys1787_Gly1788delinsSerAsp	coding	Pathogenic
17	43049164	CCA	C	C43049169G	BRCA1	NM_007294.4(BRCA1):c.5357_5358TG[2]:p.Cys1787fs	coding	Pathogenic
17	43049166	AC	CT	A43049166C	BRCA1	NM_007294.4(BRCA1):c.5360_5361delinsAG:p.Cys1787Ter	coding	Pathogenic
17	43049172	C	CTG	A43049176G	BRCA1	NM_007294.4(BRCA1):c.5353_5354dup:p.Gln1785fs	coding	Pathogenic
17	43049174	G	GT	A43049176T	BRCA1	NM_007294.4(BRCA1):c.5352dup:p.Gln1785fs	coding	Pathogenic
17	43049176	AC	A	C43049178A	BRCA1	NM_007294.4(BRCA1):c.5350del:p.Val1784fs	coding	Pathogenic
17	43049178	CA	C	A43049179T	BRCA1	NM_007294.4(BRCA1):c.5348del:p.Met1783fs	coding	Pathogenic
17	43049184	TTC	CA	T43049184C	BRCA1	NM_007294.4(BRCA1):c.5341_5343delinsTG:p.Glu1781fs	coding	Pathogenic
17	43049185	TC	T	C43049187A	BRCA1	NM_007294.4(BRCA1):c.5341del:p.Glu1781fs	coding	Pathogenic
17	43049188	AG	A	G43049189T	BRCA1	NM_007294.4(BRCA1):c.5338del:p.Leu1780fs	coding	Pathogenic
17	43049191	TG	T	G43049192A	BRCA1	NM_007294.4(BRCA1):c.5335del:p.Gln1779fs	coding	Pathogenic
17	43049215	TAAAATCACTGCAGTA	T	A43049217T	BRCA1	NM_007294.3(BRCA1):c.5333-36_5333-22del	noncoding	Pathogenic
17	43050880	G	GT	G43050890T	BRCA1	NM_007294.3(BRCA1):c.5332+174dup	noncoding	Benign
17	43051057	TCTTACCT	ATGTTG	T43051057A	BRCA1	NM_007294.3(BRCA1):c.5331_5332+6delinsCAACAT	noncoding	Pathogenic
17	43051061	ACCTGTGGGCATGTTGGTGAAGGG	A	T43051064C	BRCA1	NM_007294.4(BRCA1):c.5311_5332+1del	noncoding	Pathogenic
17	43051062	CCT	ATGTTG	C43051062A	BRCA1	NM_007294.3(BRCA1):c.5331_5332+1delinsCAACAT	coding	Pathogenic
17	43051062	CCTGTGGGCATGTTGGTGAAGGGCCCATAGCAACAGATTTCTAGCCCCCTGAAGA	C	C43051063T	BRCA1	NM_007294.4(BRCA1):c.5279_5332del:p.Ile1760_Asp1778delinsAsn	coding	Pathogenic
17	43051066	TG	T	G43051069C	BRCA1	NM_007294.4(BRCA1):c.5328del:p.Thr1777fs	coding	Pathogenic
17	43051066	T	TG	C43051070G	BRCA1	NM_007294.3(BRCA1):c.5328dupC:p.Thr1777Hisfs	coding	Pathogenic
17	43051070	CAT	C	A43051071G	BRCA1	NM_007294.4(BRCA1):c.5323_5324del:p.Met1775fs	coding	Pathogenic
17	43051073	GTT	G	T43051074G	BRCA1	NM_007294.4(BRCA1):c.5320_5321del:p.Asn1774fs	coding	Pathogenic
17	43051075	T	TG	T43051078G	BRCA1	NM_007294.4(BRCA1):c.5319dup:p.Asn1774fs	coding	Pathogenic
17	43051079	GA	G	A43051081G	BRCA1	NM_007294.4(BRCA1):c.5315del:p.Phe1772fs	coding	Pathogenic
17	43051083	GGC	G	G43051084C	BRCA1	NM_007294.4(BRCA1):c.5310_5311del:p.Pro1771fs	coding	Pathogenic
17	43051084	GC	G	C43051087A	BRCA1	NM_007294.4(BRCA1):c.5310del:p.Phe1772fs	coding	Pathogenic
17	43051084	G	GC	A43051088C	BRCA1	NM_007294.4(BRCA1):c.5310dup:p.Pro1771fs	coding	Pathogenic
17	43051090	AG	A	G43051091C	BRCA1	NM_007294.4(BRCA1):c.5304del:p.Tyr1769fs	coding	Pathogenic
17	43051092	CA	C	A43051094C	BRCA1	NM_007294.4(BRCA1):c.5302del:p.Cys1768fs	coding	Pathogenic
17	43051093	AAC	A	C43051095G	BRCA1	NM_007294.4(BRCA1):c.5300_5301del:p.Cys1767fs	coding	Pathogenic
17	43051095	CA	C	A43051096G	BRCA1	NM_007294.4(BRCA1):c.5299del:p.Cys1767fs	coding	Pathogenic
17	43051098	A	AT	C43051102T	BRCA1	NM_007294.4(BRCA1):c.5296dup:p.Ile1766fs	coding	Pathogenic
17	43051104	AG	A	G43051105C	BRCA1	NM_007294.4(BRCA1):c.5290del:p.Gly1763_Leu1764insTer	coding	Pathogenic
17	43051105	GC	G	C43051110T	BRCA1	NM_007294.4(BRCA1):c.5289del:p.Gly1763_Leu1764insTer	coding	Pathogenic
17	43051105	G	GC	T43051111C	BRCA1	NM_007294.3(BRCA1):c.5289dupG:p.Leu1764Alafs	coding	Pathogenic
17	43051110	CT	C	T43051111G	BRCA1	NM_007294.4(BRCA1):c.5284del:p.Arg1762fs	coding	Pathogenic
17	43051112	GA	G	A43051114G	BRCA1	NM_007294.4(BRCA1):c.5282del:p.Phe1761fs	coding	Pathogenic
17	43051118	CT	C	T43051119G	BRCA1	NM_007294.3(BRCA1):c.5278-2del	noncoding	Pathogenic
17	43053353	GT	G	T43053355A	BRCA1	NM_007294.3(BRCA1):c.5278-2237del	noncoding	Benign
17	43056686	AG	A	G43056687A	BRCA1	NM_007294.3(BRCA1):c.5277+365del	noncoding	Benign
17	43056992	G	GGGAGTGGAATAC	A43057005G	BRCA1	NM_007294.3(BRCA1):c.5277+48_5277+59dup	noncoding	Benign
17	43057045	GCTTTAC	G	A43057050C	BRCA1	NM_007294.4(BRCA1):c.5277+1_5277+6del	noncoding	Pathogenic
17	43057050	AC	A	C43057052T	BRCA1	NM_007294.3(BRCA1):c.5277+1del	noncoding	Pathogenic/Likely_pathogenic
17	43057051	CCTTTCTG	C	C43057052T	BRCA1	NM_007294.4(BRCA1):c.5271_5277del:p.Asp1757fs	coding	Pathogenic
17	43057052	CT	C	T43057055C	BRCA1	NM_007294.4(BRCA1):c.5276del:p.Lys1759fs	coding	Pathogenic
17	43057052	CTTTCTGT	C	T43057053C	BRCA1	NM_007294.4(BRCA1):c.5270_5276del:p.Asp1757fs	coding	Pathogenic
17	43057054	TTCTGTCC	T	C43057056G	BRCA1	NM_007294.4(BRCA1):c.5268_5274del:p.Asp1757fs	coding	Pathogenic
17	43057055	TCTGTC	T	T43057059G	BRCA1	NM_007294.4(BRCA1):c.5269_5273del:p.Asp1757fs	coding	Pathogenic
17	43057059	T	TG	C43057060G	BRCA1	NM_007294.4(BRCA1):c.5269_5270insC:p.Asp1757fs	coding	Pathogenic
17	43057060	C	CG	C43057061G	BRCA1	NM_007294.4(BRCA1):c.5268_5269insC:p.Asp1757fs	coding	Pathogenic
17	43057061	C	CG	T43057062G	BRCA1	NM_007294.4(BRCA1):c.5267_5268insC:p.Gln1756fs	coding	Pathogenic
17	43057062	T	TG	A43057066G	BRCA1	NM_007294.3(BRCA1):c.5266dupC:p.Gln1756Profs	coding	Pathogenic
17	43057069	CT	C	T43057070C	BRCA1	NM_007294.4(BRCA1):c.5259del:p.Glu1754fs	coding	Pathogenic
17	43057071	C	CT	G43057074T	BRCA1	NM_007294.4(BRCA1):c.5257dup:p.Arg1753fs	coding	Pathogenic
17	43057077	CGCTTTGGACCTTGGTG	C	C43057079T	BRCA1	NM_007294.4(BRCA1):c.5236_5251del:p.His1746fs	coding	Pathogenic
17	43057078	GC	G	C43057079T	BRCA1	NM_007294.4(BRCA1):c.5250del:p.Lys1750fs	coding	Pathogenic
17	43057079	C	CT	G43057083T	BRCA1	NM_007294.4(BRCA1):c.5249dup:p.Arg1751fs	coding	Pathogenic
17	43057079	CT	C	T43057082G	BRCA1	NM_007294.4(BRCA1):c.5249del:p.Lys1750fs	coding	Pathogenic
17	43057080	T	TGA	T43057081G	BRCA1	NM_007294.4(BRCA1):c.5248_5249insTC:p.Lys1750fs	coding	Pathogenic
17	43057081	T	TGA	T43057082G	BRCA1	NM_007294.4(BRCA1):c.5247_5248insTC:p.Lys1750fs	coding	Pathogenic
17	43057081	TTGGACCTTGGTGGTTTCTTCCATTGACCACATCTCCTCT	GA	T43057081G	BRCA1	NM_007294.4(BRCA1):c.5209_5248delinsTC:p.Arg1737fs	coding	Pathogenic
17	43057082	TGGACCTTGGTGGTTTCTTCCATTGACCACATCTCCTCTG	GA	T43057082G	BRCA1	NM_007294.4(BRCA1):c.5208_5247delinsTC:p.Arg1737fs	coding	Pathogenic
17	43057085	AC	A	C43057087T	BRCA1	NM_007294.4(BRCA1):c.5243del:p.Gly1748fs	coding	Pathogenic
17	43057087	CT	C	T43057089G	BRCA1	NM_007294.4(BRCA1):c.5241del:p.Gly1748fs	coding	Pathogenic
17	43057089	TG	T	G43057091T	BRCA1	NM_007294.4(BRCA1):c.5239del:p.Gln1747fs	coding	Pathogenic
17	43057089	T	TG	T43057092G	BRCA1	NM_007294.4(BRCA1):c.5239dup:p.Gln1747fs	coding	Pathogenic
17	43057091	GTGGTTT	CTCGCTTTGGAC	G43057091C	BRCA1	NM_007294.4(BRCA1):c.5232_5238delinsGTCCAAAGCGAG:p.Asn1745fs	coding	Pathogenic/Likely_pathogenic
17	43057091	GTGGTTTCT	G	G43057093C	BRCA1	NM_007294.4(BRCA1):c.5230_5237del:p.Arg1744fs	coding	Pathogenic
17	43057091	GT	G	T43057092G	BRCA1	NM_007294.4(BRCA1):c.5237del:p.His1746fs	coding	Pathogenic
17	43057092	TG	T	G43057094T	BRCA1	NM_007294.4(BRCA1):c.5236del:p.His1746fs	coding	Pathogenic
17	43057092	T	TGGTTTCTTCCATTGACCACATCTCCTCTGACTTCAAAATCATGCTGAAAGAAA	C43057146G	BRCA1	NM_007294.3(BRCA1):c.5194-10_5236dup	coding	Pathogenic
17	43057094	G	GT	C43057098T	BRCA1	NM_007294.4(BRCA1):c.5234dup:p.Asn1745fs	coding	Pathogenic
17	43057097	TC	T	C43057098T	BRCA1	NM_007294.4(BRCA1):c.5231del:p.Arg1744fs	coding	Pathogenic
17	43057098	CT	C	T43057100C	BRCA1	NM_007294.4(BRCA1):c.5230del:p.Arg1744fs	coding	Pathogenic
17	43057098	CTT	C	T43057099C	BRCA1	NM_007294.4(BRCA1):c.5229_5230del:p.Arg1744fs	coding	Pathogenic
17	43057104	TTGAC	T	T43057105C	BRCA1	NM_007294.4(BRCA1):c.5221_5224del:p.Val1741fs	coding	Pathogenic
17	43057105	TG	T	G43057106A	BRCA1	NM_007294.4(BRCA1):c.5223del:p.Asn1742fs	coding	Pathogenic
17	43057112	AT	A	T43057113C	BRCA1	NM_007294.4(BRCA1):c.5216del:p.Asp1739fs	coding	Pathogenic
17	43057112	ATC	A	T43057115C	BRCA1	NM_007294.4(BRCA1):c.5213_5214GA[1]:p.Asp1739fs	coding	Pathogenic
17	43057115	TC	T	C43057117T	BRCA1	NM_007294.4(BRCA1):c.5213del:p.Gly1738fs	coding	Pathogenic
17	43057116	CCT	C	C43057119G	BRCA1	NM_007294.4(BRCA1):c.5209_5210AG[1]:p.Gly1738fs	coding	Pathogenic
17	43057118	T	TG	C43057119G	BRCA1	NM_007294.4(BRCA1):c.5210_5211insC:p.Arg1737fs	coding	Pathogenic
17	43057119	C	CG	T43057120G	BRCA1	NM_007294.4(BRCA1):c.5209_5210insC:p.Arg1737fs	coding	Pathogenic
17	43057119	C	CT	G43057121T	BRCA1	NM_007294.4(BRCA1):c.5209dup:p.Arg1737fs	coding	Pathogenic
17	43057121	GA	G	A43057122C	BRCA1	NM_007294.4(BRCA1):c.5207del:p.Val1736fs	coding	Pathogenic
17	43057123	CT	C	T43057125C	BRCA1	NM_007294.4(BRCA1):c.5205del:p.Val1736fs	coding	Pathogenic
17	43057126	CA	C	A43057130T	BRCA1	NM_007294.4(BRCA1):c.5202del:p.Phe1734fs	coding	Pathogenic
17	43057127	A	AG	A43057128G	BRCA1	NM_007294.4(BRCA1):c.5201_5202insC:p.Phe1734_Glu1735insTer	coding	Pathogenic
17	43057128	A	AG	A43057129G	BRCA1	NM_007294.4(BRCA1):c.5200_5201insC:p.Phe1734fs	coding	Pathogenic
17	43057132	CATGC	AATA	C43057132A	BRCA1	NM_007294.3(BRCA1):c.5194-1_5197delinsTATT	coding	Pathogenic
17	43062098	CTTT	C	T43062108A	BRCA1	NM_007294.3(BRCA1):c.5193+1232_5193+1234del	noncoding	Benign
17	43063330	TA	T	A43063331C	BRCA1	NM_007294.3(BRCA1):c.5193+2del	noncoding	Pathogenic
17	43063331	AC	A	C43063333T	BRCA1	NM_007294.3(BRCA1):c.5193+1del	noncoding	Pathogenic/Likely_pathogenic
17	43063333	CTCATTCAGCATTTT	C	A43063336T	BRCA1	NM_007294.4(BRCA1):c.5179_5192del:p.Lys1727fs	coding	Pathogenic
17	43063339	CA	C	A43063340G	BRCA1	NM_007294.4(BRCA1):c.5186del:p.Leu1729fs	coding	Pathogenic
17	43063343	A	AT	C43063349T	BRCA1	NM_007294.4(BRCA1):c.5182dup:p.Met1728fs	coding	Pathogenic
17	43063343	AT	A	T43063348C	BRCA1	NM_007294.4(BRCA1):c.5182del:p.Met1728fs	coding	Pathogenic
17	43063343	ATT	A	T43063347C	BRCA1	NM_007294.4(BRCA1):c.5181_5182del:p.Lys1727fs	coding	Pathogenic
17	43063345	TTTTC	T	C43063353A	BRCA1	NM_007294.4(BRCA1):c.5173_5176GAAA[1]:p.Arg1726fs	coding	Pathogenic
17	43063347	TTC	T	C43063349T	BRCA1	NM_007294.4(BRCA1):c.5177_5178del:p.Arg1726fs	coding	Pathogenic
17	43063349	CT	C	T43063352C	BRCA1	NM_007294.4(BRCA1):c.5176del:p.Arg1726fs	coding	Pathogenic
17	43063353	C	CT	A43063357T	BRCA1	NM_007294.4(BRCA1):c.5172dup:p.Glu1725fs	coding	Pathogenic
17	43063359	T	AAA	T43063359A	BRCA1	NM_007294.4(BRCA1):c.5167delinsTTT:p.Ile1723fs	coding	Pathogenic
17	43063360	A	AG	A43063362G	BRCA1	NM_007294.4(BRCA1):c.5165dup:p.Ile1723fs	coding	Pathogenic
17	43063360	AGACTG	A	A43063362G	BRCA1	NM_007294.4(BRCA1):c.5161_5165del:p.Gln1721fs	coding	Pathogenic
17	43063362	A	AG	C43063363G	BRCA1	NM_007294.4(BRCA1):c.5163_5164insC:p.Ser1722fs	coding	Pathogenic
17	43063363	CT	C	T43063364G	BRCA1	NM_007294.4(BRCA1):c.5162del:p.Gln1721fs	coding	Pathogenic
17	43063367	G	GTCAC	C43063372T	BRCA1	NM_007294.4(BRCA1):c.5155_5158dup:p.Thr1720fs	coding	Pathogenic
17	43063367	GTCAC	TTT	G43063367T	BRCA1	NM_007294.4(BRCA1):c.5155_5159delinsAAA:p.Val1719fs	coding	Pathogenic
17	43063368	TCA	T	A43063370C	BRCA1	NM_007294.4(BRCA1):c.5156_5157del:p.Val1719fs	coding	Pathogenic
17	43063369	CA	C	A43063370C	BRCA1	NM_007294.4(BRCA1):c.5156del:p.Val1719fs	coding	Pathogenic/Likely_pathogenic
17	43063369	C	CTATT	A43063370T	BRCA1	NM_007294.4(BRCA1):c.5156_5157insAATA:p.Thr1720fs	coding	Pathogenic
17	43063370	A	AC	T43063375C	BRCA1	NM_007294.3(BRCA1):c.5153-1dup	coding	Pathogenic
17	43063370	AC	A	C43063374T	BRCA1	NM_007294.3(BRCA1):c.5155delG	coding	Pathogenic
17	43063374	CT	C	T43063375A	BRCA1	NM_007294.3(BRCA1):c.5153-2del	noncoding	Pathogenic
17	43063685	A	AT	C43063690T	BRCA1	NM_007294.3(BRCA1):c.5152+185dup	noncoding	Benign
17	43063788	CA	C	A43063793C	BRCA1	NM_007294.3(BRCA1):c.5152+85del	noncoding	Benign
17	43063870	T	TA	T43063871A	BRCA1	NM_007294.3(BRCA1):c.5152+3_5152+4insT	noncoding	Pathogenic
17	43063871	T	TA	C43063873A	BRCA1	NM_007294.3(BRCA1):c.5152+2dupT	noncoding	Pathogenic
17	43063873	CAGAAATAGCTAACTACCCATTTTCCTCCCGCAATTCCTAGAAAATATTTCAGTGTCCGTTCACACACAAACTCAGCAT	C	A43063874C	BRCA1	NM_007294.4(BRCA1):c.5075_5152del:p.Asp1692_Trp1718delinsGly	coding	Pathogenic
17	43063875	GA	G	A43063878T	BRCA1	NM_007294.4(BRCA1):c.5150del:p.Phe1717fs	coding	Pathogenic
17	43063877	A	AG	A43063878G	BRCA1	NM_007294.4(BRCA1):c.5148_5149insC:p.Phe1717fs	coding	Pathogenic
17	43063878	A	AG	T43063879G	BRCA1	NM_007294.4(BRCA1):c.5147_5148insC:p.Trp1718fs	coding	Pathogenic
17	43063880	AG	A	G43063881C	BRCA1	NM_007294.4(BRCA1):c.5145del:p.Tyr1716fs	coding	Pathogenic
17	43063888	A	AC	A43063892C	BRCA1	NM_007294.4(BRCA1):c.5137dup:p.Val1713fs	coding	Pathogenic
17	43063888	AC	A	C43063891A	BRCA1	NM_007294.4(BRCA1):c.5137del:p.Trp1712_Val1713insTer	coding	Pathogenic
17	43063892	A	AT	C43063897T	BRCA1	NM_007294.4(BRCA1):c.5133dup:p.Trp1712fs	coding	Pathogenic
17	43063892	AT	A	T43063896C	BRCA1	NM_007294.4(BRCA1):c.5133del:p.Lys1711fs	coding	Pathogenic
17	43063896	TC	T	C43063898T	BRCA1	NM_007294.4(BRCA1):c.5129del:p.Gly1710fs	coding	Pathogenic
17	43063899	TC	T	C43063902G	BRCA1	NM_007294.4(BRCA1):c.5126del:p.Gly1709fs	coding	Pathogenic
17	43063902	CG	C	G43063903C	BRCA1	NM_007294.4(BRCA1):c.5123del:p.Ala1708fs	coding	Pathogenic
17	43063904	CAATTCCTA	C	A43063905G	BRCA1	NM_007294.4(BRCA1):c.5114_5121del:p.Leu1705fs	coding	Pathogenic
17	43063913	GA	G	A43063917T	BRCA1	NM_007294.4(BRCA1):c.5112del:p.Phe1704_Leu1705insTer	coding	Pathogenic
17	43063919	AT	A	T43063922C	BRCA1	NM_007294.4(BRCA1):c.5106del:p.Lys1702fs	coding	Pathogenic
17	43063922	TCA	T	C43063923G	BRCA1	NM_007294.4(BRCA1):c.5102_5103del:p.Leu1701fs	coding	Pathogenic
17	43063923	CA	C	A43063924G	BRCA1	NM_007294.4(BRCA1):c.5102del:p.Leu1701fs	coding	Pathogenic
17	43063927	GT	G	T43063928C	BRCA1	NM_007294.4(BRCA1):c.5098del:p.Thr1700fs	coding	Pathogenic
17	43063933	TCA	T	C43063940A	BRCA1	NM_007294.4(BRCA1):c.5085_5086TG[3]:p.Cys1697_Glu1698delinsTer	coding	Pathogenic
17	43063934	CA	C	A43063935C	BRCA1	NM_007294.4(BRCA1):c.5091del:p.Cys1697fs	coding	Pathogenic
17	43063940	CAA	C	A43063942C	BRCA1	NM_007294.4(BRCA1):c.5084_5085del:p.Phe1695fs	coding	Pathogenic
17	43063941	A	AC	A43063942C	BRCA1	NM_007294.4(BRCA1):c.5084_5085insG:p.Phe1695fs	coding	Pathogenic
17	43063942	A	AC	A43063943C	BRCA1	NM_007294.4(BRCA1):c.5083_5084insG:p.Phe1695fs	coding	Pathogenic
17	43063945	TCAG	T	G43063948T	BRCA1	NM_007294.4(BRCA1):c.5078_5080del:p.Ala1693del	coding	Pathogenic/Likely_pathogenic
17	43063945	TC	T	C43063946A	BRCA1	NM_007294.4(BRCA1):c.5080del:p.Glu1694fs	coding	Pathogenic
17	43063946	CAGC	GCAGAATCAA	C43063946G	BRCA1	NM_007294.4(BRCA1):c.5077_5080delinsTTGATTCTGC:p.Ala1693_Glu1694delinsLeuIleLeuGln	coding	Pathogenic
17	43063947	AGCAT	A	G43063948C	BRCA1	NM_007294.4(BRCA1):c.5075_5078del:p.Asp1692fs	coding	Pathogenic
17	43063949	CA	C	A43063950T	BRCA1	NM_007294.4(BRCA1):c.5076del:p.Asp1692fs	coding	Pathogenic
17	43063952	CT	C	T43063953G	BRCA1	NM_007294.3(BRCA1):c.5075-2del	noncoding	Pathogenic/Likely_pathogenic
17	43067607	CCTGTTTTCATAACAACATGAGTAGTCTCTTCAGTAATTAGATTAGTTAAAGTGATGTGGTGTTTTCTGGCAAACTTGTACACGAGCAT	C	T43067611A	BRCA1	NM_007294.3(BRCA1):c.4987_5074del88:p.Val1665Serfs	coding	Pathogenic
17	43067610	G	GT	C43067615T	BRCA1	NM_007294.3(BRCA1):c.5071dupA:p.Thr1691Asnfs	coding	Pathogenic
17	43067616	A	AT	A43067618T	BRCA1	NM_007294.4(BRCA1):c.5065dup:p.Met1689fs	coding	Pathogenic
17	43067617	TAAC	T	A43067622T	BRCA1	NM_007294.4(BRCA1):c.5059_5061GTT[1]:p.Val1688del	coding	Pathogenic
17	43067622	A	AGTTG	C43067623G	BRCA1	NM_007294.4(BRCA1):c.5059_5060insCAAC:p.Val1687fs	coding	Pathogenic
17	43067622	AC	A	C43067623A	BRCA1	NM_007294.4(BRCA1):c.5059del:p.Val1687fs	coding	Pathogenic
17	43067623	C	CGTTG	A43067624G	BRCA1	NM_007294.4(BRCA1):c.5058_5059insCAAC:p.Val1687fs	coding	Pathogenic
17	43067624	A	ATGAG	A43067630G	BRCA1	NM_007294.4(BRCA1):c.5054_5057dup:p.Val1687fs	coding	Pathogenic
17	43067625	T	TG	A43067627G	BRCA1	NM_007294.4(BRCA1):c.5056dup:p.His1686fs	coding	Pathogenic
17	43067628	G	GTA	G43067631T	BRCA1	NM_007294.4(BRCA1):c.5052_5053dup:p.Thr1685fs	coding	Pathogenic
17	43067630	AG	A	G43067631T	BRCA1	NM_007294.4(BRCA1):c.5051del:p.Thr1684fs	coding	Pathogenic
17	43067630	AGT	A	G43067631C	BRCA1	NM_007294.4(BRCA1):c.5050_5051del:p.Thr1684fs	coding	Pathogenic
17	43067634	TCTTC	A	T43067634A	BRCA1	NM_007294.4(BRCA1):c.5044_5048delinsT:p.Thr1681_Glu1682insTer	coding	Pathogenic
17	43067638	C	CATTA	G43067640T	BRCA1	NM_007294.4(BRCA1):c.5043_5044insTAAT:p.Glu1682Ter	coding	Pathogenic
17	43067639	AG	A	G43067640T	BRCA1	NM_007294.4(BRCA1):c.5042del:p.Thr1681fs	coding	Pathogenic
17	43067640	G	GTAAT	G43067647A	BRCA1	NM_007294.4(BRCA1):c.5038_5041dup:p.Thr1681fs	coding	Pathogenic
17	43067640	G	GTTAA	A43067642T	BRCA1	NM_007294.4(BRCA1):c.5041_5042insTTAA:p.Thr1681fs	coding	Pathogenic
17	43067641	TAA	T	A43067642T	BRCA1	NM_007294.4(BRCA1):c.5039_5040del:p.Ile1680fs	coding	Pathogenic
17	43067641	TA	T	A43067643T	BRCA1	NM_007294.4(BRCA1):c.5040del:p.Thr1681fs	coding	Pathogenic
17	43067642	AATTAG	A	A43067648T	BRCA1	NM_007294.4(BRCA1):c.5030_5034CTAAT[1]:p.Leu1679fs	coding	Pathogenic
17	43067645	TAGATTAGTTAA	T	A43067648T	BRCA1	NM_007294.4(BRCA1):c.5026_5036del:p.Leu1676fs	coding	Pathogenic
17	43067646	AG	A	G43067647A	BRCA1	NM_007294.4(BRCA1):c.5035del:p.Asn1678_Leu1679insTer	coding	Pathogenic
17	43067648	A	ATTAG	A43067656G	BRCA1	NM_007294.4(BRCA1):c.5030_5033dup:p.Leu1679_Ile1680insTer	coding	Pathogenic
17	43067648	ATTAG	A	G43067652A	BRCA1	NM_007294.4(BRCA1):c.5030_5033del:p.Thr1677fs	coding	Pathogenic
17	43067650	TAGTTA	T	G43067652A	BRCA1	NM_007294.4(BRCA1):c.5027_5031del:p.Thr1675_Leu1676insTer	coding	Pathogenic
17	43067654	TAA	T	A43067656G	BRCA1	NM_007294.4(BRCA1):c.5026_5027del:p.Leu1676fs	coding	Pathogenic
17	43067654	TA	T	A43067657G	BRCA1	NM_007294.4(BRCA1):c.5027del:p.Thr1675_Leu1676insTer	coding	Pathogenic
17	43067654	T	TA	G43067658A	BRCA1	NM_007294.4(BRCA1):c.5027dup:p.Leu1676fs	coding	Pathogenic
17	43067660	G	GA	T43067662A	BRCA1	NM_007294.4(BRCA1):c.5021dup:p.Thr1675fs	coding	Pathogenic
17	43067662	TG	T	G43067663T	BRCA1	NM_007294.4(BRCA1):c.5019del:p.His1673fs	coding	Pathogenic
17	43067668	G	GT	C43067673T	BRCA1	NM_007294.4(BRCA1):c.5013dup:p.His1672fs	coding	Pathogenic
17	43067673	C	CG	T43067674G	BRCA1	NM_007294.4(BRCA1):c.5008_5009insC:p.Arg1670fs	coding	Pathogenic
17	43067674	T	TG	C43067677G	BRCA1	NM_007294.4(BRCA1):c.5007dup:p.Arg1670fs	coding	Pathogenic
17	43067674	T	TGGCAAACTTGTAC	A43067688G	BRCA1	NM_007294.4(BRCA1):c.4995_5007dup:p.Arg1670fs	coding	Pathogenic
17	43067676	GC	G	C43067677A	BRCA1	NM_007294.4(BRCA1):c.5005del:p.Ala1669fs	coding	Pathogenic
17	43067684	G	GT	A43067686T	BRCA1	NM_007294.4(BRCA1):c.4997dup:p.Tyr1666Ter	coding	Pathogenic
17	43067684	G	GTA	C43067687T	BRCA1	NM_007294.4(BRCA1):c.4996_4997dup:p.Lys1667fs	coding	Pathogenic
17	43067694	AT	A	T43067695C	BRCA1	NM_007294.4(BRCA1):c.4987del:p.Met1663fs	coding	Pathogenic
17	43070027	GGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTATAGGCATGCGCCACCACGCCCGGCTAATTGTGTATTTTTAGTAAAGATGGGGTTTCTTCATGTTGGTCAGGCTGGTCTTGATCTCCTGACCTTAGGTGATCTGACCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGCTTGAGCCACCATGCCCGGCCATGCAATTATTTTTATTATGAAGTGATGACAATGACAATTAATTACAGGGGTGGTAAACTTCTCAGGATGTCTGAAATCCACAAATAGCCCAAGCAGAAACGAGGTTTTACTGGTCTTAATATTTTAATGGGTATTTTTCCACAGTATGAAGCAATTCCCATTTCTGGCATTAAGGACCCAAGGTGATGCCAAAATCCTAATAGCAAGGGATATTGCAGGGCAGAAGTGGCAGGGCATTCTTACAAGCCAGGATGAAAACAAACACTAGAGAAATGCTACTATCTGGCAGTACATTTGGAACCAGTCTGAATTTAGTTAAATATGCTGGTAAATTCACCCATGTGAGACAAGGGGGAGAAAAAGATGCCTTCTGGGGAATAAAACTATACCTACTTGCTTTTACAGATAGAAAGGAAAATTCCAATTCGAAAGTCCTATATCATACCCAAAGTATAGCTTTTCCACTAATATTTAATAATTATTTTCTCAAGTAAATATACATAAAATAATCCACACTATAGCTTTATCTAGATCTAAATTTTCAGAAATTAGTAATCGAAATTAAATTACACAGAACTGTGATTGTTTTCTAGATTTCTTCCTCTAGGTTATTAATTGACAATACCTACATAAAACTCTTTCCAGAATGTTGTTAAGTCTTAGTCATTAGGGAGATACATATGGATACACTCACAAATTCTTCTGGGGTCAGGCCAGACACCACCATGGACATTCTTTTGTTGACCCTTTCTGTTGAAGCTGTCAATTCTGGCTTCTCCCTGCTCACACTTTCTTCCATTGCATTATACCCAGCAGTATCAGTAGTATGAGCAGCAGCTGGACTCTGGGCAGATTCTGCAACTTTCAATTGGGGAACTTTCAATGCAGAGGTTGAAGATGGTATGTTGCCAACACGAGCTGACTCTGGGGCTCTGTCTTCAGAAGGATCAGATTCAGGGTCATCAGAGAAGAGGCTGATTCCAGATTCCAGGTAAGGGGTTCCCTCTGAAAGGAATGGGAGAAGTTTAATTTACACAACGATGAATGTTGAATTACAAAGTTCTGGTCTCTGTTAAGAATTAAAAAGACCAATAAAGTTAGGTTAAGAGAAAAATGGGTACATGAATACAGTGTTGGTGGAAATCCAAAGTAGCTTAGTTTCCTAAAAAGGAAATATGGCATTATGTAGCAAACACCTTAACACGTATTTACACTTTCAGTCAACAATGCTAGTTTTAGAAATATATCCTAGGGAGATAAAAGATATATGCAAAGGTTTAGTCATAGGAATAGTATAATTTTAGAAACAATGTAGTTGTCCAATAATAGGAGATTAAATTACGATATACCTAGTCCAATGGAGTACTCTTCACCCATTAATTTGAATATAAATGTTGATGTACAATAAAACAGAAATGTTACTAATATATTAAAGACACCTAAGCAATATTATTTATCATGACATTATTTTAAAAATAAAAGTTTATGGGCCGAGCACGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGACGGGTGGATCACGAGGTCAGGAGATCAAGACCATCCTGGCTAACACAGTGAAACCCTGTCTCTACTGAAAATACAAAAAAAAAAATTAGCTGGGCGTGGTGGCGGGCGCCTGTAGTCCCGGCTACTAGGGAGGCTGAGGCAGGGGAATGGCGTGTACCCGGGAGGCAGAGCTTGCAGTGAGCTGAGATTGAGCCATTGCATTCCAGCCTGGGCAACAGAGCGAGACTCCGTCTCAAAAAAATAAATAAATAAAAATAAATAAATAAATAAAAGTTTATGTAAAATGACTAAAGAAACACAGAAATATTTTATTATTAAAGAATAAGAGTACAGGCCGGGTGCGGTGGCTCAGGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGCGGATCACCTGAGGTCAAGAGGTCGAGACCAGTCTGACCAACATGGAGAAACCCTGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTGGTGGTGCATGCCTGTAATCCCAGCTACTGGGGAGGCTGAAGCAGGAGAATCGCTCGAACCCAGGAGGCGGAGGTTGCGCTGAGCCGAGATTGCGCCATTGCACTCCAGCCTGGGCAACAAGAGTGAAACTCCGTCTCAAAAAAGAGTACGGGTAATATTTTTTTTTTTGAGAAGGGTCTCGGTCTGTCATCCAGGCTGCAGTGCAGTGGCACAAACATGGCTCACCTGCAGCCTTGACCTCCTGGACTCAAGTGATCTTCCTGTCTCAGCCTCCTGAGTAGCTGGGACCACAGGTGTTTGCCACCTTCCAGCTGATTTTTTTTTTTTTTGAGATGGAGTTTCATTCTTGTTGCCCAGGCTAGAGTGCAATGGCGCGATCTCAGCTCACTGAAACCTCTGCCTCCCA	G	A43070037G	BRCA1	NM_007294.3(BRCA1):c.4676-1420_4986+900del	noncoding	Pathogenic
17	43070924	TCA	T	C43070927A	BRCA1	NM_007294.3(BRCA1):c.4986+2_4986+3del	noncoding	Pathogenic
17	43070927	C	CA	T43070931A	BRCA1	NM_007294.4(BRCA1):c.4986dup:p.Met1663fs	coding	Pathogenic
17	43070929	AATTCTTCTGGGGTCAGGCC	A	T43070931G	BRCA1	NM_007294.4(BRCA1):c.4966_4984del:p.Gly1656fs	coding	Pathogenic
17	43070931	TTCTTCTGGGGTCAGGCCAG	T	T43070932A	BRCA1	NM_007294.4(BRCA1):c.4964_4982del:p.Ser1655fs	coding	Pathogenic
17	43070934	TTCTGGGGTCAGGCCAG	T	T43070935A	BRCA1	NM_007294.4(BRCA1):c.4964_4979del:p.Val1654_Ser1655insTer	coding	Pathogenic
17	43070937	TG	T	G43070941T	BRCA1	NM_007294.4(BRCA1):c.4976del:p.Pro1659fs	coding	Pathogenic
17	43070941	GT	G	T43070942C	BRCA1	NM_007294.4(BRCA1):c.4972del:p.Thr1658fs	coding	Pathogenic
17	43070944	AG	A	G43070946C	BRCA1	NM_007294.4(BRCA1):c.4969del:p.Gly1656_Leu1657insTer	coding	Pathogenic
17	43070965	ATTC	A	C43070968T	BRCA1	NM_007294.4(BRCA1):c.4946_4948del:p.Arg1649del	coding	Pathogenic
17	43070967	TCT	AAAA	T43070967A	BRCA1	NM_007294.4(BRCA1):c.4945_4947delinsTTTT:p.Arg1649fs	coding	Pathogenic
17	43070968	CT	C	T43070972G	BRCA1	NM_007294.4(BRCA1):c.4945del:p.Arg1649fs	coding	Pathogenic
17	43070968	CTT	C	T43070971G	BRCA1	NM_007294.4(BRCA1):c.4944_4945del:p.Arg1649fs	coding	Pathogenic
17	43070969	T	TAAAA	T43070970A	BRCA1	NM_007294.4(BRCA1):c.4944_4945insTTTT:p.Arg1649delinsPheTer	coding	Pathogenic
17	43070972	TG	T	G43070973T	BRCA1	NM_007294.4(BRCA1):c.4941del:p.Asn1647fs	coding	Pathogenic
17	43070972	TGTTGACCCTTTCTGTTGAAGCTGTCAATTCTGGCTTCTCCCTGCTCACACTTTCTTCCATTGCATTATACCCAGCAGTATCA	T	T43070975A	BRCA1	NM_007294.4(BRCA1):c.4860_4941del:p.Asp1621fs	coding	Pathogenic
17	43070977	AC	A	C43070980T	BRCA1	NM_007294.4(BRCA1):c.4936del:p.Val1646fs	coding	Pathogenic
17	43070978	C	CTT	C43070979T	BRCA1	NM_007294.4(BRCA1):c.4935_4936insAA:p.Val1646fs	coding	Pathogenic
17	43070979	C	CTT	C43070980T	BRCA1	NM_007294.4(BRCA1):c.4934_4935insAA:p.Val1646fs	coding	Pathogenic
17	43070980	C	CTT	C43070984T	BRCA1	NM_007294.4(BRCA1):c.4932_4933dup:p.Arg1645fs	coding	Pathogenic
17	43070992	GC	G	C43070993T	BRCA1	NM_007294.4(BRCA1):c.4921del:p.Ala1641fs	coding	Pathogenic
17	43070994	TGTCAATTCTGGCTTCTCCC	T	G43070995T	BRCA1	NM_007294.4(BRCA1):c.4901_4919del:p.Arg1634fs	coding	Pathogenic
17	43071003	TG	T	G43071005C	BRCA1	NM_007294.4(BRCA1):c.4910del:p.Pro1637fs	coding	Pathogenic
17	43071007	TTC	T	T43071010C	BRCA1	NM_007294.4(BRCA1):c.4903_4904GA[1]:p.Lys1636fs	coding	Pathogenic
17	43071010	TC	T	C43071013T	BRCA1	NM_007294.4(BRCA1):c.4903del:p.Glu1635fs	coding	Pathogenic
17	43071010	T	TC	T43071014C	BRCA1	NM_007294.4(BRCA1):c.4903dup:p.Glu1635fs	coding	Pathogenic
17	43071017	TCA	T	A43071021T	BRCA1	NM_007294.4(BRCA1):c.4893_4894TG[1]:p.Val1632fs	coding	Pathogenic
17	43071020	CACTTTCT	C	A43071021T	BRCA1	NM_007294.4(BRCA1):c.4887_4893del:p.Glu1629_Glu1630insTer	coding	Pathogenic
17	43071022	C	CT	C43071026T	BRCA1	NM_007294.4(BRCA1):c.4891dup:p.Ser1631fs	coding	Pathogenic
17	43071022	CT	C	T43071025C	BRCA1	NM_007294.4(BRCA1):c.4891del:p.Ser1631fs	coding	Pathogenic
17	43071024	TTC	T	C43071026T	BRCA1	NM_007294.4(BRCA1):c.4888_4889del:p.Glu1630fs	coding	Pathogenic
17	43071028	TCCATTGCATTATA	T	A43071031C	BRCA1	NM_007294.4(BRCA1):c.4873_4885del:p.Tyr1625fs	coding	Pathogenic
17	43071028	TC	T	C43071030A	BRCA1	NM_007294.4(BRCA1):c.4885del:p.Glu1629fs	coding	Pathogenic
17	43071028	T	TC	A43071031C	BRCA1	NM_007294.4(BRCA1):c.4885dup:p.Glu1629fs	coding	Pathogenic
17	43071035	C	CA	T43071037A	BRCA1	NM_007294.4(BRCA1):c.4878dup:p.Ala1627fs	coding	Pathogenic
17	43071036	AT	A	T43071038A	BRCA1	NM_007294.4(BRCA1):c.4877del:p.Asn1626fs	coding	Pathogenic
17	43071042	CCCAGCAGTAT	C	C43071044A	BRCA1	NM_007294.4(BRCA1):c.4862_4871del:p.Asp1621fs	coding	Pathogenic/Likely_pathogenic
17	43071070	G	GC	T43071072C	BRCA1	NM_007294.4(BRCA1):c.4843dup:p.Ala1615fs	coding	Pathogenic
17	43071072	T	TG	A43071075G	BRCA1	NM_007294.4(BRCA1):c.4841dup:p.Ala1615fs	coding	Pathogenic
17	43071075	A	AG	C43071076G	BRCA1	NM_007294.4(BRCA1):c.4838_4839insC:p.Pro1614fs	coding	Pathogenic
17	43071076	CT	C	T43071077C	BRCA1	NM_007294.4(BRCA1):c.4837del:p.Ser1613fs	coding	Pathogenic
17	43071076	CT	GGC	C43071076G	BRCA1	NM_007294.4(BRCA1):c.4837_4838delinsGCC:p.Ser1613fs	coding	Pathogenic
17	43071077	T	TC	T43071079C	BRCA1	NM_007294.4(BRCA1):c.4836dup:p.Ser1613fs	coding	Pathogenic
17	43071078	CTG	C	T43071079G	BRCA1	NM_007294.4(BRCA1):c.4834_4835del:p.Gln1612fs	coding	Pathogenic
17	43071079	TG	T	G43071082C	BRCA1	NM_007294.4(BRCA1):c.4834del:p.Gln1612fs	coding	Pathogenic
17	43071084	AG	A	G43071085A	BRCA1	NM_007294.4(BRCA1):c.4829del:p.Ser1610fs	coding	Pathogenic
17	43071085	G	GA	T43071087A	BRCA1	NM_007294.4(BRCA1):c.4828dup:p.Ser1610fs	coding	Pathogenic
17	43071090	T	TC	G43071091C	BRCA1	NM_007294.4(BRCA1):c.4823_4824insG:p.Glu1609fs	coding	Pathogenic
17	43071091	G	GC	A43071093C	BRCA1	NM_007294.4(BRCA1):c.4822dup:p.Ala1608fs	coding	Pathogenic
17	43071095	CT	C	T43071098C	BRCA1	NM_007294.4(BRCA1):c.4818del:p.Val1607fs	coding	Pathogenic
17	43071099	C	CAATA	T43071103A	BRCA1	NM_007294.4(BRCA1):c.4814_4815insTATT:p.Leu1605fs	coding	Pathogenic
17	43071103	TG	T	G43071107A	BRCA1	NM_007294.4(BRCA1):c.4810del:p.Gln1604fs	coding	Pathogenic/Likely_pathogenic
17	43071107	GA	G	A43071109C	BRCA1	NM_007294.4(BRCA1):c.4806del:p.Gln1604fs	coding	Pathogenic
17	43071110	CT	C	T43071113C	BRCA1	NM_007294.4(BRCA1):c.4803del:p.Val1602fs	coding	Pathogenic
17	43071114	C	CA	T43071117A	BRCA1	NM_007294.4(BRCA1):c.4799dup:p.Leu1600fs	coding	Pathogenic
17	43071122	AG	A	G43071124T	BRCA1	NM_007294.4(BRCA1):c.4791del:p.Ser1598fs	coding	Pathogenic
17	43071129	AG	A	G43071130A	BRCA1	NM_007294.4(BRCA1):c.4784del:p.Ser1595fs	coding	Pathogenic
17	43071131	AT	A	T43071132G	BRCA1	NM_007294.4(BRCA1):c.4782del:p.Ser1595fs	coding	Pathogenic
17	43071135	TATGT	G	T43071135G	BRCA1	NM_007294.4(BRCA1):c.4775_4779delinsC:p.Asn1592fs	coding	Pathogenic
17	43071148	CGA	C	A43071150C	BRCA1	NM_007294.4(BRCA1):c.4764_4765del:p.Arg1589fs	coding	Pathogenic
17	43071149	GA	G	A43071150G	BRCA1	NM_007294.4(BRCA1):c.4764del:p.Arg1589fs	coding	Pathogenic
17	43071154	G	GT	A43071155T	BRCA1	NM_007294.4(BRCA1):c.4759_4760insA:p.Ser1587fs	coding	Pathogenic
17	43071155	A	AT	C43071156T	BRCA1	NM_007294.4(BRCA1):c.4758_4759insA:p.Ser1587fs	coding	Pathogenic
17	43071158	CT	C	T43071159G	BRCA1	NM_007294.4(BRCA1):c.4755del:p.Glu1586fs	coding	Pathogenic
17	43071158	CTG	C	T43071159G	BRCA1	NM_007294.4(BRCA1):c.4754_4755del:p.Pro1585fs	coding	Pathogenic
17	43071159	T	TG	C43071164G	BRCA1	NM_007294.4(BRCA1):c.4754dup:p.Glu1586fs	coding	Pathogenic
17	43071163	GC	G	C43071164T	BRCA1	NM_007294.4(BRCA1):c.4750del:p.Ala1584fs	coding	Pathogenic
17	43071163	GCT	G	C43071166G	BRCA1	NM_007294.4(BRCA1):c.4747_4748AG[1]:p.Arg1583fs	coding	Pathogenic
17	43071168	GT	G	T43071169C	BRCA1	NM_007294.4(BRCA1):c.4745del:p.Asp1582fs	coding	Pathogenic
17	43071170	CT	C	T43071172C	BRCA1	NM_007294.4(BRCA1):c.4743del:p.Asp1582fs	coding	Pathogenic
17	43071174	AGAAG	A	A43071177T	BRCA1	NM_007294.4(BRCA1):c.4736_4739del:p.Pro1579fs	coding	Pathogenic
17	43071189	AG	A	G43071192T	BRCA1	NM_007294.4(BRCA1):c.4724del:p.Pro1575fs	coding	Pathogenic
17	43071196	TC	T	C43071197A	BRCA1	NM_007294.4(BRCA1):c.4717del:p.Asp1573fs	coding	Pathogenic
17	43071197	CAGAGA	C	A43071202G	BRCA1	NM_007294.4(BRCA1):c.4712_4716del:p.Leu1570_Phe1571insTer	coding	Pathogenic
17	43071201	GA	G	A43071203G	BRCA1	NM_007294.4(BRCA1):c.4712del:p.Phe1571fs	coding	Pathogenic
17	43071204	GAGGCTGATTC	T	G43071204T	BRCA1	NM_007294.4(BRCA1):c.4700_4710delinsA:p.Gly1567fs	coding	Pathogenic
17	43071204	G	GA	G43071206A	BRCA1	NM_007294.4(BRCA1):c.4709dup:p.Phe1571fs	coding	Pathogenic
17	43071205	AGGCTGATTCC	A	G43071206A	BRCA1	NM_007294.4(BRCA1):c.4699_4708del:p.Gly1567fs	coding	Pathogenic
17	43071209	T	TGATTCCA	G43071225A	BRCA1	NM_007294.4(BRCA1):c.4691_4697TGGAATC[3]:p.Ser1569fs	coding	Pathogenic
17	43071213	T	TCC	A43071216C	BRCA1	NM_007294.4(BRCA1):c.4699_4700dup:p.Ile1568fs	coding	Pathogenic
17	43071216	A	AT	G43071217T	BRCA1	NM_007294.4(BRCA1):c.4697_4698insA:p.Gly1567fs	coding	Pathogenic
17	43071217	G	GT	A43071218T	BRCA1	NM_007294.4(BRCA1):c.4696_4697insA:p.Ser1566fs	coding	Pathogenic
17	43071218	A	AT	C43071221T	BRCA1	NM_007294.4(BRCA1):c.4695dup:p.Ser1566fs	coding	Pathogenic
17	43071220	TCCAGGT	C	T43071220C	BRCA1	NM_007294.4(BRCA1):c.4688_4694delinsG:p.Tyr1563_Glu1565delinsTer	coding	Pathogenic
17	43071225	G	GT	A43071227T	BRCA1	NM_007294.4(BRCA1):c.4688dup:p.Tyr1563Ter	coding	Pathogenic
17	43071228	AGG	A	G43071231T	BRCA1	NM_007294.4(BRCA1):c.4684_4685del:p.Pro1562fs	coding	Pathogenic
17	43071232	GT	G	T43071234C	BRCA1	NM_007294.4(BRCA1):c.4681del:p.Thr1561fs	coding	Pathogenic
17	43071234	TCC	T	C43071236T	BRCA1	NM_007294.4(BRCA1):c.4678_4679del:p.Gly1560fs	coding	Pathogenic
17	43071521	G	GAATGTTCACTGTAACAATGCTTGT	A43071525G	BRCA1	NM_007294.3(BRCA1):c.4676-284_4676-283insATTACAAGCATTGTTACAGTGAAC	noncoding	Benign
17	43073637	TA	T	A43073645C	BRCA1	NM_007294.3(BRCA1):c.4675+693del	noncoding	Benign
17	43074328	TACCTAGATCTTGCCTTGGCAAGTAAGATGTTTCCGTCAAATCGTGTGGCCCAGACTCTTCCAGCTGTTGCTCCTCCACATCAACAACCTTAATGAGCTCCTCTTGAGATGGGTAGTTTCTATTCTGAAGACTCCCAGAGCAACTGTGCATGTACCACCTATCATCTAATGATGGGCATTTAGAAGGGGATG	T	T43074336A	BRCA1	NM_007294.4(BRCA1):c.4487_4675+2del	noncoding	Pathogenic
17	43074330	C	CT	C43074331T	BRCA1	NM_007294.4(BRCA1):c.4676dup:p.Thr1561fs	coding	Pathogenic
17	43074331	C	CT	A43074333T	BRCA1	NM_007294.4(BRCA1):c.4674dup:p.Glu1559fs	coding	Pathogenic
17	43074331	CT	C	T43074332A	BRCA1	NM_007294.4(BRCA1):c.4674del:p.Glu1559fs	coding	Pathogenic
17	43074332	TAGATCTTGCCTTGGCAAGTA	T	C43074337G	BRCA1	NM_007294.4(BRCA1):c.4654_4673del:p.Tyr1552fs	coding	Pathogenic
17	43074333	AG	A	G43074334A	BRCA1	NM_007294.4(BRCA1):c.4672del:p.Asp1557_Leu1558insTer	coding	Pathogenic
17	43074337	C	CT	G43074340T	BRCA1	NM_007294.4(BRCA1):c.4668dup:p.Asp1557fs	coding	Pathogenic
17	43074340	GCCTTGGCAAGTAAGATGTTT	G	T43074343G	BRCA1	NM_007294.4(BRCA1):c.4646_4665del:p.Glu1549fs	coding	Pathogenic
17	43074342	CT	C	T43074344G	BRCA1	NM_007294.4(BRCA1):c.4663del:p.Arg1555fs	coding	Pathogenic
17	43074347	CAAGT	C	T43074351A	BRCA1	NM_007294.4(BRCA1):c.4655_4658del:p.Tyr1552fs	coding	Pathogenic
17	43074347	CA	C	A43074349G	BRCA1	NM_007294.4(BRCA1):c.4658del:p.Leu1553fs	coding	Pathogenic
17	43074349	AG	A	G43074350T	BRCA1	NM_007294.4(BRCA1):c.4656del:p.Leu1553fs	coding	Pathogenic
17	43074350	G	GT	A43074352T	BRCA1	NM_007294.4(BRCA1):c.4655dup:p.Tyr1552Ter	coding	Pathogenic
17	43074351	T	TC	A43074352C	BRCA1	NM_007294.4(BRCA1):c.4654_4655insG:p.Tyr1552Ter	coding	Pathogenic
17	43074351	T	TG	A43074352G	BRCA1	NM_007294.4(BRCA1):c.4654_4655insC:p.Tyr1552fs	coding	Pathogenic
17	43074357	G	GTT	C43074361T	BRCA1	NM_007294.4(BRCA1):c.4647_4648dup:p.Thr1550fs	coding	Pathogenic
17	43074370	CG	C	G43074371T	BRCA1	NM_007294.4(BRCA1):c.4635del:p.His1545fs	coding	Pathogenic
17	43074379	CAG	C	G43074381C	BRCA1	NM_007294.4(BRCA1):c.4625_4626del:p.Ser1542fs	coding	Pathogenic
17	43074382	ACT	A	C43074385T	BRCA1	NM_007294.4(BRCA1):c.4620_4621AG[1]:p.Glu1541fs	coding	Pathogenic
17	43074385	CTTC	TTT	C43074385T	BRCA1	NM_007294.4(BRCA1):c.4618_4621delinsAAA:p.Glu1540fs	coding	Pathogenic
17	43074389	C	CA	G43074391A	BRCA1	NM_007294.4(BRCA1):c.4616dup:p.Glu1540fs	coding	Pathogenic
17	43074393	T	TC	G43074394C	BRCA1	NM_007294.4(BRCA1):c.4612_4613insG:p.Gln1538fs	coding	Pathogenic
17	43074394	G	GC	T43074395C	BRCA1	NM_007294.4(BRCA1):c.4611_4612insG:p.Gln1538fs	coding	Pathogenic
17	43074395	T	TGG	T43074396G	BRCA1	NM_007294.4(BRCA1):c.4610_4611insCC:p.Gln1537fs	coding	Pathogenic
17	43074396	T	TGG	C43074398G	BRCA1	NM_007294.4(BRCA1):c.4609_4610insCC:p.Gln1537fs	coding	Pathogenic
17	43074409	C	CAG	A43074411G	BRCA1	NM_007294.4(BRCA1):c.4596_4597insCT:p.Asp1533fs	coding	Pathogenic
17	43074410	A	AAG	C43074412G	BRCA1	NM_007294.4(BRCA1):c.4595_4596insCT:p.Asp1533fs	coding	Pathogenic
17	43074412	C	CA	C43074415A	BRCA1	NM_007294.4(BRCA1):c.4593dup:p.Val1532fs	coding	Pathogenic
17	43074414	AC	A	C43074416T	BRCA1	NM_007294.4(BRCA1):c.4591del:p.Val1531fs	coding	Pathogenic
17	43074415	CCTTA	C	C43074416A	BRCA1	NM_007294.4(BRCA1):c.4587_4590del:p.Ile1529fs	coding	Pathogenic
17	43074420	ATGAGCTCCTCT	A	C43074425A	BRCA1	NM_007294.4(BRCA1):c.4575_4585del:p.Gln1525fs	coding	Pathogenic
17	43074430	CTT	C	T43074431G	BRCA1	NM_007294.4(BRCA1):c.4574_4575del:p.Gln1525fs	coding	Pathogenic
17	43074433	GAGAT	G	A43074434G	BRCA1	NM_007294.4(BRCA1):c.4569_4572del:p.Ser1524fs	coding	Pathogenic
17	43074434	A	AGG	A43074436G	BRCA1	NM_007294.4(BRCA1):c.4571_4572insCC:p.Gln1525fs	coding	Pathogenic
17	43074435	GA	G	A43074436T	BRCA1	NM_007294.4(BRCA1):c.4570del:p.Ser1524fs	coding	Pathogenic
17	43074436	A	AGG	T43074437G	BRCA1	NM_007294.4(BRCA1):c.4569_4570insCC:p.Ser1524fs	coding	Pathogenic
17	43074470	ACT	A	C43074471G	BRCA1	NM_007294.4(BRCA1):c.4534_4535del:p.Ser1512fs	coding	Pathogenic
17	43074471	CT	C	T43074472G	BRCA1	NM_007294.4(BRCA1):c.4534del:p.Ser1512fs	coding	Pathogenic/Likely_pathogenic
17	43074471	CTG	C	T43074474C	BRCA1	NM_007294.4(BRCA1):c.4531_4532CA[1]:p.His1511fs	coding	Pathogenic
17	43074473	G	GT	G43074475T	BRCA1	NM_007294.4(BRCA1):c.4532dup:p.His1511fs	coding	Pathogenic
17	43074477	AT	A	T43074478G	BRCA1	NM_007294.4(BRCA1):c.4528del:p.Met1510fs	coding	Pathogenic
17	43074480	TACC	CTCATCTAATGATGGGCA	T43074480C	BRCA1	NM_007294.4(BRCA1):c.4523_4526delinsTGCCCATCATTAGATGAG:p.Trp1508_Tyr1509delinsLeuProIleIleArgTer	coding	Pathogenic
17	43074489	TC	T	C43074490A	BRCA1	NM_007294.4(BRCA1):c.4516del:p.Asp1506fs	coding	Pathogenic
17	43074494	TAATGA	T	A43074495T	BRCA1	NM_007294.4(BRCA1):c.4507_4511del:p.Ser1503fs	coding	Pathogenic
17	43074500	TG	T	G43074503C	BRCA1	NM_007294.4(BRCA1):c.4505del:p.Pro1502fs	coding	Pathogenic
17	43074512	AG	A	G43074516A	BRCA1	NM_007294.4(BRCA1):c.4493del:p.Pro1498fs	coding	Pathogenic
17	43074519	GA	G	A43074520C	BRCA1	NM_007294.4(BRCA1):c.4486del:p.Ser1496fs	coding	Pathogenic
17	43074719	GGGGTT	G	G43074727T	BRCA1	NM_007294.3(BRCA1):c.4485-203_4485-199del	noncoding	Benign
17	43074920	AGAAAGAAAGGAAAG	A	G43074935A	BRCA1	NM_007294.3(BRCA1):c.4485-413_4485-400del	noncoding	Benign
17	43075066	C	CGGAA	A43075087G	BRCA1	NM_007294.3(BRCA1):c.4485-565TTCC[6]	noncoding	Benign
17	43076486	AC	A	C43076488T	BRCA1	NM_007294.3(BRCA1):c.4484+1del	noncoding	Pathogenic
17	43076487	CCTTTCCACTCCTGGTTCTTTATTTTTACTGGTAGAACTATCTGCAGACACCTCAAACTTGTCAGCAGAAAGGCCTTCTGGATTCTGGCTTATAGGGTATTCACTACTTTTCTGTGAAGTTAATACTG	C	C43076492A	BRCA1	NM_007298.3(BRCA1):c.1049-3_1172del	coding	Pathogenic
17	43076488	CT	C	T43076491C	BRCA1	NM_007294.4(BRCA1):c.4483del:p.Arg1495fs	coding	Pathogenic
17	43076488	CTT	C	T43076490C	BRCA1	NM_007294.4(BRCA1):c.4482_4483del:p.Arg1495fs	coding	Pathogenic
17	43076497	CCTGGTTCTTTATTTTTACTGGT	C	C43076498A	BRCA1	NM_007294.4(BRCA1):c.4453_4474del:p.Thr1485fs	coding	Pathogenic
17	43076508	A	AT	A43076514T	BRCA1	NM_007294.4(BRCA1):c.4463dup:p.Asn1488fs	coding	Pathogenic
17	43076514	AC	A	C43076515T	BRCA1	NM_007294.4(BRCA1):c.4457del:p.Ser1486fs	coding	Pathogenic
17	43076515	CT	C	T43076516G	BRCA1	NM_007294.4(BRCA1):c.4456del:p.Ser1486fs	coding	Pathogenic
17	43076516	TGGTA	T	G43076518A	BRCA1	NM_007294.4(BRCA1):c.4452_4455del:p.Thr1485fs	coding	Pathogenic
17	43076524	CT	C	T43076525A	BRCA1	NM_007294.4(BRCA1):c.4447del:p.Ser1483fs	coding	Pathogenic
17	43076533	G	GA	C43076535A	BRCA1	NM_007294.4(BRCA1):c.4438dup:p.Ser1480fs	coding	Pathogenic
17	43076536	AC	A	C43076538T	BRCA1	NM_007294.4(BRCA1):c.4435del:p.Val1479fs	coding	Pathogenic
17	43076544	C	CT	G43076547T	BRCA1	NM_007294.4(BRCA1):c.4427dup:p.Phe1477fs	coding	Pathogenic
17	43076554	GAAAGGCCTTCTGGATTCT	AAA	G43076554A	BRCA1	NM_007294.4(BRCA1):c.4400_4418delinsTTT:p.Gln1467fs	coding	Pathogenic
17	43076554	GA	G	A43076557G	BRCA1	NM_007294.4(BRCA1):c.4417del:p.Ser1473fs	coding	Pathogenic
17	43076555	AA	C	A43076555C	BRCA1	NM_007294.4(BRCA1):c.4416_4417delinsG:p.Ser1473fs	coding	Pathogenic
17	43076557	AG	A	G43076559C	BRCA1	NM_007294.4(BRCA1):c.4414del:p.Leu1472fs	coding	Pathogenic
17	43076559	GC	G	C43076561T	BRCA1	NM_007294.4(BRCA1):c.4412del:p.Gly1471fs	coding	Pathogenic
17	43076561	C	CT	C43076564T	BRCA1	NM_007294.4(BRCA1):c.4410dup:p.Gly1471fs	coding	Pathogenic
17	43076565	T	TG	A43076568G	BRCA1	NM_007294.4(BRCA1):c.4406dup:p.Glu1470fs	coding	Pathogenic
17	43076569	TTCTGGCTTATAG	AA	T43076569A	BRCA1	NM_007294.4(BRCA1):c.4391_4403delinsTT:p.Pro1464fs	coding	Pathogenic
17	43076570	TC	T	C43076571T	BRCA1	NM_007294.4(BRCA1):c.4401del:p.Asn1468fs	coding	Pathogenic
17	43076573	G	GT	G43076574T	BRCA1	NM_007294.4(BRCA1):c.4398_4399insA:p.Gln1467fs	coding	Pathogenic
17	43076574	G	GT	C43076575T	BRCA1	NM_007294.4(BRCA1):c.4397_4398insA:p.Ser1466fs	coding	Pathogenic
17	43076575	C	CT	A43076578T	BRCA1	NM_007294.4(BRCA1):c.4396dup:p.Ser1466fs	coding	Pathogenic/Likely_pathogenic
17	43076577	T	TA	T43076579A	BRCA1	NM_007294.4(BRCA1):c.4394dup:p.Ser1466fs	coding	Pathogenic
17	43076578	AT	A	T43076579A	BRCA1	NM_007294.4(BRCA1):c.4393del:p.Pro1464_Ile1465insTer	coding	Pathogenic
17	43076579	TAG	AA	T43076579A	BRCA1	NM_007294.4(BRCA1):c.4391_4393delinsTT:p.Pro1464fs	coding	Pathogenic
17	43076579	TA	T	A43076580G	BRCA1	NM_007294.4(BRCA1):c.4392del:p.Pro1464_Ile1465insTer	coding	Pathogenic
17	43076579	T	TAGGG	T43076584A	BRCA1	NM_007294.4(BRCA1):c.4389_4392dup:p.Ile1465fs	coding	Pathogenic
17	43076580	A	AG	T43076584G	BRCA1	NM_007294.4(BRCA1):c.4391dup:p.Ile1465fs	coding	Pathogenic
17	43076580	AG	A	G43076583T	BRCA1	NM_007294.4(BRCA1):c.4391del:p.Pro1464fs	coding	Pathogenic
17	43076582	GGTATTCACTACTTTTCT	G	A43076585G	BRCA1	NM_007294.4(BRCA1):c.4373_4389del:p.Gln1458fs	coding	Pathogenic
17	43076583	G	GTATTCAC	C43076593T	BRCA1	NM_007294.4(BRCA1):c.4382_4388dup:p.Tyr1463Ter	coding	Pathogenic
17	43076584	TA	T	A43076585T	BRCA1	NM_007294.4(BRCA1):c.4387del:p.Tyr1463fs	coding	Pathogenic
17	43076585	A	AT	C43076588T	BRCA1	NM_007294.4(BRCA1):c.4386dup:p.Tyr1463fs	coding	Pathogenic
17	43076592	AC	A	C43076593T	BRCA1	NM_007294.4(BRCA1):c.4379del:p.Ser1460fs	coding	Pathogenic
17	43076598	CTG	C	T43076601A	BRCA1	NM_007294.4(BRCA1):c.4370_4371CA[1]:p.Gln1458fs	coding	Pathogenic
17	43077335	C	CT	G43077349T	BRCA1	NM_007294.3(BRCA1):c.4358-734dup	noncoding	Benign
17	43080890	T	TA	T43080901A	BRCA1	NM_007294.3(BRCA1):c.4357+1504dup	noncoding	Benign
17	43082393	ACAATACACAC	A	A43082395T	BRCA1	NM_007294.3(BRCA1):c.4357+1_4357+10del	noncoding	Pathogenic
17	43082402	AC	A	C43082404T	BRCA1	NM_007294.3(BRCA1):c.4357+1del	noncoding	Pathogenic
17	43082412	GA	G	A43082413T	BRCA1	NM_007294.4(BRCA1):c.4348del:p.Ser1450fs	coding	Pathogenic
17	43082412	G	GA	T43082414A	BRCA1	NM_007294.4(BRCA1):c.4348dup:p.Ser1450fs	coding	Pathogenic
17	43082418	C	CT	G43082422T	BRCA1	NM_007294.4(BRCA1):c.4342dup:p.Ser1448fs	coding	Pathogenic
17	43082422	G	GTTCT	G43082427T	BRCA1	NM_007294.4(BRCA1):c.4335_4338dup:p.Gln1447fs	coding	Pathogenic
17	43082422	GTTCTGGAT	G	T43082426G	BRCA1	NM_007294.4(BRCA1):c.4331_4338del:p.Asn1444fs	coding	Pathogenic
17	43082428	GAT	G	A43082429T	BRCA1	NM_007294.4(BRCA1):c.4331_4332del:p.Asn1444fs	coding	Pathogenic
17	43082439	TC	T	C43082441T	BRCA1	NM_007294.4(BRCA1):c.4321del:p.Asp1441fs	coding	Pathogenic
17	43082439	T	TC	T43082442C	BRCA1	NM_007294.3(BRCA1):c.4321dupG:p.Asp1441Glyfs	coding	Pathogenic
17	43082450	AG	A	G43082451A	BRCA1	NM_007294.4(BRCA1):c.4310del:p.Ser1437fs	coding	Pathogenic
17	43082451	GA	G	A43082453G	BRCA1	NM_007294.4(BRCA1):c.4309del:p.Ser1437fs	coding	Pathogenic
17	43082452	AAG	A	A43082455T	BRCA1	NM_007294.4(BRCA1):c.4305_4306CT[1]:p.Ser1436fs	coding	Pathogenic
17	43082460	C	CT	A43082463T	BRCA1	NM_007294.3(BRCA1):c.4300dupA:p.Ser1434Lysfs	coding	Pathogenic
17	43082464	TGATGGAA	T	A43082466G	BRCA1	NM_007294.4(BRCA1):c.4290_4296del:p.Pro1430_Ser1431insTer	coding	Pathogenic
17	43082471	A	AG	T43082475G	BRCA1	NM_007294.4(BRCA1):c.4289dup:p.Ser1431fs	coding	Pathogenic
17	43082474	G	GC	T43082475C	BRCA1	NM_007294.4(BRCA1):c.4286_4287insG:p.Tyr1429Ter	coding	Pathogenic
17	43082475	T	TA	G43082477A	BRCA1	NM_007294.4(BRCA1):c.4285dup:p.Tyr1429fs	coding	Pathogenic
17	43082475	T	TC	A43082476C	BRCA1	NM_007294.4(BRCA1):c.4285_4286insG:p.Tyr1429Ter	coding	Pathogenic
17	43082476	A	AC	G43082477C	BRCA1	NM_007294.4(BRCA1):c.4284_4285insG:p.Tyr1429fs	coding	Pathogenic
17	43082476	AG	C	A43082476C	BRCA1	NM_007294.4(BRCA1):c.4284_4285delinsG:p.Ser1428fs	coding	Pathogenic
17	43082477	GCT	G	C43082478G	BRCA1	NM_007294.4(BRCA1):c.4282_4283del:p.Ser1428fs	coding	Pathogenic
17	43082477	G	GC	T43082479C	BRCA1	NM_007294.4(BRCA1):c.4283dup:p.Ser1428fs	coding	Pathogenic
17	43082478	CT	C	T43082479G	BRCA1	NM_007294.4(BRCA1):c.4282del:p.Ser1428fs	coding	Pathogenic
17	43082479	T	TGTTAGAAGGCTGGCTCCCATGCTGTTCTAACACAGCTTA	C43082518A	BRCA1	NM_007294.4(BRCA1):c.4281_4282insTAAGCTGTGTTAGAACAGCATGGGAGCCAGCCTTCTAAC:p.Ser1428Ter	coding	Pathogenic
17	43082484	GA	G	A43082486G	BRCA1	NM_007294.4(BRCA1):c.4276del:p.Ser1426fs	coding	Pathogenic
17	43082493	CTCCCATGCTGTTCTAACACAGCTTCTAGTTCAGCCATTTCCTGCTGGAGCTTTATCAGGTTATGTTGCATGGTA	C	A43082498T	BRCA1	NM_007294.4(BRCA1):c.4194_4267del:p.Asp1398fs	coding	Pathogenic
17	43082494	TC	T	C43082497A	BRCA1	NM_007294.4(BRCA1):c.4266del:p.Ser1423fs	coding	Pathogenic
17	43082494	T	TC	A43082498C	BRCA1	NM_007294.4(BRCA1):c.4266dup:p.Ser1423fs	coding	Pathogenic
17	43082508	AAC	A	C43082512G	BRCA1	NM_007294.4(BRCA1):c.4249_4250GT[1]:p.Leu1418fs	coding	Pathogenic
17	43082510	CA	C	A43082511C	BRCA1	NM_007294.4(BRCA1):c.4250del:p.Val1417fs	coding	Pathogenic
17	43082517	TC	T	C43082518T	BRCA1	NM_007294.4(BRCA1):c.4243del:p.Glu1415fs	coding	Pathogenic
17	43082517	T	TA	C43082518A	BRCA1	NM_007294.4(BRCA1):c.4243_4244insT:p.Glu1415fs	coding	Pathogenic
17	43082520	A	AG	T43082522G	BRCA1	NM_007294.4(BRCA1):c.4240dup:p.Leu1414fs	coding	Pathogenic
17	43082521	GT	G	T43082523C	BRCA1	NM_007294.4(BRCA1):c.4239del:p.Glu1413fs	coding	Pathogenic
17	43082542	GC	G	C43082543T	BRCA1	NM_007294.4(BRCA1):c.4218del:p.Lys1406fs	coding	Pathogenic
17	43082546	TA	T	A43082547T	BRCA1	NM_007294.4(BRCA1):c.4214del:p.Ile1405fs	coding	Pathogenic
17	43082546	T	TA	T43082548A	BRCA1	NM_007294.4(BRCA1):c.4214dup:p.Leu1407fs	coding	Pathogenic
17	43082550	AG	A	G43082552T	BRCA1	NM_007294.4(BRCA1):c.4210del:p.Asn1403_Leu1404insTer	coding	Pathogenic
17	43082553	TTA	T	A43082555G	BRCA1	NM_007294.4(BRCA1):c.4206_4207del:p.His1402fs	coding	Pathogenic
17	43082555	AT	A	T43082556G	BRCA1	NM_007294.4(BRCA1):c.4205del:p.His1402fs	coding	Pathogenic
17	43082563	TG	T	G43082565T	BRCA1	NM_007294.4(BRCA1):c.4197del:p.Met1400fs	coding	Pathogenic
17	43082564	GG	A	G43082564A	BRCA1	NM_007294.4(BRCA1):c.4196_4197delinsT:p.Thr1399fs	coding	Pathogenic
17	43082564	GGT	G	G43082565A	BRCA1	NM_007294.4(BRCA1):c.4195_4196del:p.Thr1399fs	coding	Pathogenic
17	43082565	GT	G	T43082566A	BRCA1	NM_007294.4(BRCA1):c.4195del:p.Thr1399fs	coding	Pathogenic
17	43082566	T	TCC	A43082567C	BRCA1	NM_007294.4(BRCA1):c.4194_4195insGG:p.Thr1399fs	coding	Pathogenic
17	43082567	A	ACC	T43082568C	BRCA1	NM_007294.4(BRCA1):c.4193_4194insGG:p.Asp1398fs	coding	Pathogenic
17	43086109	T	TACACAC	G43086149C	BRCA1	NM_007294.3(BRCA1):c.4186-3572GT[22]	noncoding	Benign
17	43089550	T	TTC	T43089552C	BRCA1	NM_007294.3(BRCA1):c.4185+1393_4185+1394insAG	noncoding	Benign
17	43089551	T	TC	T43089552C	BRCA1	NM_007294.3(BRCA1):c.4185+1392_4185+1393insG	noncoding	Benign
17	43090058	AAAG	A	A43090066G	BRCA1	NM_007294.3(BRCA1):c.4185+877CTT[2]	noncoding	Benign
17	43090063	AG	A	G43090064A	BRCA1	NM_007294.3(BRCA1):c.4185+880del	noncoding	Benign
17	43090064	GA	G	A43090066G	BRCA1	NM_007294.3(BRCA1):c.4185+879del	noncoding	Benign
17	43090737	T	TGTGCGC	T43090747C	BRCA1	NM_007294.3(BRCA1):c.4185+201_4185+206dup	noncoding	Benign
17	43090874	GTGGGATACATACTACTGAATGCAAAGGACACCACACACACGCATGTGCACACACACACACGCTTTTTACCTGAGTGGTTAAAATGTCACTCTGAGAGGATAGCCCTGAGCAGTCTTCAGAGACGCTTGTTTCACTCTCACACCCAGATGCTGCTTCACCTTAAATAACAAAAACAGAGGTTCAGATGTAAAAGCAGACTATAAACGCTGCAACTTGCTGTGTCTTTTTCTTCTCAT	G	G43090878C	BRCA1	NM_007294.3(BRCA1):c.4097-78_4185+69del	noncoding	Pathogenic
17	43090905	CCA	C	A43090913G	BRCA1	NM_007294.4(BRCA1):c.4185+31TG[3]	noncoding	Benign
17	43090921	GCA	G	A43090933G	BRCA1	NM_007294.4(BRCA1):c.4185+11TG[5]	noncoding	Benign
17	43090922	CACACACACACACGCTTTTTA	T	C43090922T	BRCA1	NM_007294.4(BRCA1):c.4185+2_4185+22delinsA	noncoding	Pathogenic
17	43090940	TTACC	T	A43090942G	BRCA1	NM_007294.3(BRCA1):c.4185_4185+3del	noncoding	Pathogenic
17	43090942	AC	A	C43090944T	BRCA1	NM_007294.4(BRCA1):c.4185+1del	noncoding	Pathogenic
17	43090945	TGA	T	A43090947T	BRCA1	NM_007294.4(BRCA1):c.4182_4183del:p.Gln1395fs	coding	Pathogenic
17	43090945	T	TGA	T43090949A	BRCA1	NM_007294.4(BRCA1):c.4182_4183dup:p.Gln1395fs	coding	Pathogenic
17	43090953	TA	T	A43090957T	BRCA1	NM_007294.4(BRCA1):c.4175del:p.Ile1391_Leu1392insTer	coding	Pathogenic
17	43090958	TGTCA	T	G43090959C	BRCA1	NM_007294.4(BRCA1):c.4167_4170del:p.Ser1389fs	coding	Pathogenic
17	43090959	G	GTC	A43090962T	BRCA1	NM_007294.4(BRCA1):c.4168_4169dup:p.Asp1390fs	coding	Pathogenic
17	43090959	GTC	G	T43090960A	BRCA1	NM_007294.4(BRCA1):c.4168_4169del:p.Asp1390fs	coding	Pathogenic
17	43090960	TCA	T	A43090962T	BRCA1	NM_007294.4(BRCA1):c.4167_4168del:p.Ser1389fs	coding	Pathogenic
17	43090961	CA	C	A43090962C	BRCA1	NM_007294.4(BRCA1):c.4167del:p.Ser1389fs	coding	Pathogenic
17	43090961	C	CCT	A43090962C	BRCA1	NM_007294.4(BRCA1):c.4167_4168insAG:p.Asp1390fs	coding	Pathogenic
17	43090962	A	ACT	G43090967C	BRCA1	NM_007294.4(BRCA1):c.4163_4164AG[3]:p.Ser1389fs	coding	Pathogenic
17	43090962	ACT	A	C43090965G	BRCA1	NM_007294.4(BRCA1):c.4163_4164AG[1]:p.Gln1388_Ser1389insTer	coding	Pathogenic
17	43090962	ACTCT	A	C43090963G	BRCA1	NM_007294.4(BRCA1):c.4163_4166del:p.Gln1388fs	coding	Pathogenic
17	43090963	CT	C	T43090964C	BRCA1	NM_007294.4(BRCA1):c.4165del:p.Ser1389fs	coding	Pathogenic
17	43090964	TCTGA	T	C43090965G	BRCA1	NM_007294.4(BRCA1):c.4161_4164del:p.Gln1388fs	coding	Pathogenic
17	43090965	C	CT	G43090967T	BRCA1	NM_007294.4(BRCA1):c.4163dup:p.Ser1389fs	coding	Pathogenic
17	43090965	CTG	C	T43090966A	BRCA1	NM_007294.4(BRCA1):c.4162_4163del:p.Gln1388fs	coding	Pathogenic
17	43090966	TGAGAG	T	G43090969T	BRCA1	NM_007294.4(BRCA1):c.4158_4162del:p.Ser1387fs	coding	Pathogenic
17	43090966	TGA	T	A43090970G	BRCA1	NM_007294.4(BRCA1):c.4159_4160TC[1]:p.Gln1388fs	coding	Pathogenic
17	43090966	T	TGA	G43090972A	BRCA1	NM_007294.4(BRCA1):c.4159_4160TC[3]:p.Gln1388fs	coding	Pathogenic
17	43090973	A	ATAGCCCTGAG	C43090984T	BRCA1	NM_007294.4(BRCA1):c.4146_4155dup:p.Ser1386fs	coding	Pathogenic
17	43090975	AGC	A	G43090976C	BRCA1	NM_007294.4(BRCA1):c.4152_4153del:p.Leu1385fs	coding	Pathogenic
17	43090988	CTT	C	T43090989C	BRCA1	NM_007294.4(BRCA1):c.4139_4140del:p.Glu1380fs	coding	Pathogenic
17	43090990	TCA	T	C43090991G	BRCA1	NM_007294.4(BRCA1):c.4137_4138del:p.Glu1380fs	coding	Pathogenic
17	43090991	CA	C	A43090992G	BRCA1	NM_007294.4(BRCA1):c.4137del:p.Glu1380fs	coding	Pathogenic
17	43090991	CAG	C	G43090995C	BRCA1	NM_007294.4(BRCA1):c.4134_4135CT[1]:p.Val1378_Ser1379insTer	coding	Pathogenic
17	43090999	CT	C	T43091001G	BRCA1	NM_007294.4(BRCA1):c.4129del:p.Ser1377fs	coding	Pathogenic
17	43090999	CTT	C	T43091000G	BRCA1	NM_007294.4(BRCA1):c.4128_4129del:p.Ser1377fs	coding	Pathogenic
17	43090999	CTTGT	C	G43091002C	BRCA1	NM_007294.4(BRCA1):c.4126_4129del:p.Thr1376fs	coding	Pathogenic
17	43091001	TG	T	G43091002T	BRCA1	NM_007294.4(BRCA1):c.4127del:p.Thr1376fs	coding	Pathogenic
17	43091005	TCA	T	A43091007T	BRCA1	NM_007294.4(BRCA1):c.4122_4123del:p.Ser1374fs	coding	Pathogenic
17	43091007	ACT	A	T43091011A	BRCA1	NM_007294.4(BRCA1):c.4118_4119AG[1]:p.Glu1373_Ser1374insTer	coding	Pathogenic
17	43091011	TCA	T	A43091015C	BRCA1	NM_007294.4(BRCA1):c.4114_4115TG[1]:p.Cys1372_Glu1373delinsTer	coding	Pathogenic
17	43091011	T	TAA	C43091012A	BRCA1	NM_007294.4(BRCA1):c.4117_4118insTT:p.Glu1373fs	coding	Pathogenic
17	43091012	CA	C	A43091013C	BRCA1	NM_007294.4(BRCA1):c.4116del:p.Cys1372fs	coding	Pathogenic
17	43091012	C	CAA	C43091014A	BRCA1	NM_007294.4(BRCA1):c.4116_4117insTT:p.Glu1373fs	coding	Pathogenic/Likely_pathogenic
17	43091015	AC	A	C43091018A	BRCA1	NM_007294.4(BRCA1):c.4113del:p.Cys1372fs	coding	Pathogenic
17	43091016	C	CAGAT	C43091017A	BRCA1	NM_007294.4(BRCA1):c.4112_4113insATCT:p.Cys1372fs	coding	Pathogenic
17	43091017	CCA	C	C43091018G	BRCA1	NM_007294.4(BRCA1):c.4110_4111del:p.Gly1371fs	coding	Pathogenic
17	43091017	C	CAGAT	C43091018A	BRCA1	NM_007294.4(BRCA1):c.4111_4112insATCT:p.Gly1371fs	coding	Pathogenic
17	43091018	C	CAGAT	G43091023A	BRCA1	NM_007294.4(BRCA1):c.4107_4110dup:p.Gly1371fs	coding	Pathogenic
17	43091020	G	GAGAT	T43091022G	BRCA1	NM_007294.4(BRCA1):c.4108_4109insATCT:p.Ser1370fs	coding	Pathogenic
17	43091021	A	AAGAT	T43091022A	BRCA1	NM_007294.4(BRCA1):c.4107_4108insATCT:p.Ser1370fs	coding	Pathogenic
17	43091436	TA	T	A43091438G	BRCA1	NM_007294.4(BRCA1):c.4094del:p.Asn1364_Leu1365insTer	coding	Pathogenic
17	43091437	AAG	A	A43091438T	BRCA1	NM_007294.4(BRCA1):c.4092_4093del:p.Leu1365fs	coding	Pathogenic
17	43091440	TTTGAATCCATGCTTTGC	T	T43091442C	BRCA1	NM_007294.4(BRCA1):c.4074_4090del:p.Gln1359fs	coding	Pathogenic
17	43091445	AT	A	T43091446C	BRCA1	NM_007294.4(BRCA1):c.4085del:p.Asp1362fs	coding	Pathogenic
17	43091451	GC	G	C43091452T	BRCA1	NM_007294.4(BRCA1):c.4079del:p.Ser1360fs	coding	Pathogenic
17	43091456	G	GC	T43091458C	BRCA1	NM_007294.4(BRCA1):c.4074dup:p.Gln1359fs	coding	Pathogenic
17	43091459	CT	C	T43091461C	BRCA1	NM_007294.4(BRCA1):c.4071del:p.Glu1358fs	coding	Pathogenic
17	43091460	T	TTCAA	T43091463A	BRCA1	NM_007294.4(BRCA1):c.4070_4071insTTGA:p.Glu1357delinsAspTer	coding	Pathogenic
17	43091461	TCTTG	T	C43091462A	BRCA1	NM_007294.4(BRCA1):c.4066_4069del:p.Gln1356fs	coding	Pathogenic
17	43091461	T	TTCAA	C43091462T	BRCA1	NM_007294.4(BRCA1):c.4069_4070insTTGA:p.Glu1357fs	coding	Pathogenic
17	43091462	CT	A	C43091462A	BRCA1	NM_007294.4(BRCA1):c.4068_4069delinsT:p.Gln1356fs	coding	Pathogenic
17	43091462	CTTGA	C	G43091465A	BRCA1	NM_007294.4(BRCA1):c.4065_4068del:p.Asn1355fs	coding	Pathogenic
17	43091462	CTTGATTA	C	G43091465T	BRCA1	NM_007294.4(BRCA1):c.4062_4068del:p.Asn1354fs	coding	Pathogenic
17	43091464	TGATTA	T	G43091465T	BRCA1	NM_007294.4(BRCA1):c.4062_4066del:p.Asn1354fs	coding	Pathogenic
17	43091464	TG	T	G43091465A	BRCA1	NM_007294.4(BRCA1):c.4066del:p.Gln1356fs	coding	Pathogenic
17	43091465	GAT	A	G43091465A	BRCA1	NM_007294.4(BRCA1):c.4064_4066delinsT:p.Asn1355fs	coding	Pathogenic
17	43091465	GATTA	G	A43091466T	BRCA1	NM_007294.4(BRCA1):c.4062_4065del:p.Asn1355fs	coding	Pathogenic
17	43091466	A	AT	A43091469T	BRCA1	NM_007294.4(BRCA1):c.4064dup:p.Asn1355fs	coding	Pathogenic
17	43091466	ATTAT	A	A43091469T	BRCA1	NM_007294.4(BRCA1):c.4061_4064del:p.Asn1354fs	coding	Pathogenic
17	43091469	ATTTTC	A	T43091472C	BRCA1	NM_007294.4(BRCA1):c.4057_4061del:p.Glu1352_Glu1353insTer	coding	Pathogenic
17	43091478	C	CA	G43091481A	BRCA1	NM_007294.3(BRCA1):c.4052dupT:p.Leu1351Phefs	coding	Pathogenic
17	43091479	A	AC	A43091480C	BRCA1	NM_007294.4(BRCA1):c.4051_4052insG:p.Leu1351fs	coding	Pathogenic
17	43091480	A	AC	G43091481C	BRCA1	NM_007294.4(BRCA1):c.4050_4051insG:p.Leu1351fs	coding	Pathogenic
17	43091481	G	GC	G43091485C	BRCA1	NM_007294.4(BRCA1):c.4049dup:p.Glu1352fs	coding	Pathogenic
17	43091485	G	GTA	T43091487A	BRCA1	NM_007294.4(BRCA1):c.4045_4046insTA:p.Thr1349fs	coding	Pathogenic
17	43091487	TC	T	C43091489T	BRCA1	NM_007294.4(BRCA1):c.4043del:p.Gly1348fs	coding	Pathogenic
17	43091488	CCT	C	C43091491T	BRCA1	NM_007294.4(BRCA1):c.4039_4040AG[1]:p.Gly1348fs	coding	Pathogenic
17	43091489	CTCTT	C	T43091494C	BRCA1	NM_007294.4(BRCA1):c.4034_4037AAGA[1]:p.Arg1347fs	coding	Pathogenic
17	43091491	C	CT	C43091495T	BRCA1	NM_007294.4(BRCA1):c.4039dup:p.Arg1347fs	coding	Pathogenic
17	43091491	CTT	C	T43091493C	BRCA1	NM_007294.4(BRCA1):c.4038_4039del:p.Gly1348fs	coding	Pathogenic
17	43091494	TC	T	C43091495T	BRCA1	NM_007294.4(BRCA1):c.4036del:p.Glu1346fs	coding	Pathogenic
17	43091495	CT	C	T43091497C	BRCA1	NM_007294.4(BRCA1):c.4035del:p.Glu1346fs	coding	Pathogenic
17	43091509	A	GGTCC	A43091509G	BRCA1	NM_007294.4(BRCA1):c.4022delinsGGACC:p.Val1341fs	coding	Pathogenic
17	43091511	C	CAA	T43091514A	BRCA1	NM_007294.4(BRCA1):c.4018_4019dup:p.Leu1340fs	coding	Pathogenic
17	43091514	T	TAA	T43091515A	BRCA1	NM_007294.4(BRCA1):c.4016_4017insTT:p.Glu1339fs	coding	Pathogenic
17	43091515	T	TC	T43091518C	BRCA1	NM_007294.4(BRCA1):c.4015dup:p.Glu1339fs	coding	Pathogenic
17	43091517	CT	C	T43091519G	BRCA1	NM_007294.4(BRCA1):c.4013del:p.Lys1338fs	coding	Pathogenic
17	43091522	CACTCAGACCA	C	A43091527C	BRCA1	NM_007294.4(BRCA1):c.3999_4008del:p.Gly1334fs	coding	Pathogenic
17	43091525	TCAGA	T	A43091527C	BRCA1	NM_007294.4(BRCA1):c.4002_4005del:p.Leu1335fs	coding	Pathogenic
17	43091529	AC	A	C43091531A	BRCA1	NM_007294.4(BRCA1):c.4001del:p.Gly1334fs	coding	Pathogenic
17	43091529	ACCAACTC	A	A43091532T	BRCA1	NM_007294.4(BRCA1):c.3995_4001del:p.Gly1332fs	coding	Pathogenic
17	43091531	CA	C	A43091533C	BRCA1	NM_007294.4(BRCA1):c.3999del:p.Gly1334fs	coding	Pathogenic
17	43091537	CCTGG	C	G43091540T	BRCA1	NM_007294.4(BRCA1):c.3990_3993del:p.Ser1330fs	coding	Pathogenic
17	43091544	TTC	GAAA	T43091544G	BRCA1	NM_007294.4(BRCA1):c.3985_3987delinsTTTC:p.Glu1329fs	coding	Pathogenic
17	43091548	G	GA	C43091550A	BRCA1	NM_007294.4(BRCA1):c.3982dup:p.Ser1328fs	coding	Pathogenic
17	43091549	AC	A	C43091550T	BRCA1	NM_007294.4(BRCA1):c.3981del:p.Gln1327fs	coding	Pathogenic
17	43091554	T	TGCCTCATTTGTTTGGAAGAACCAATCAA	A43091584C	BRCA1	NM_007294.4(BRCA1):c.3949_3976dup:p.His1326fs	coding	Pathogenic
17	43091557	CT	C	T43091558C	BRCA1	NM_007294.4(BRCA1):c.3973del:p.Arg1325fs	coding	Pathogenic
17	43091557	CTC	TT	C43091557T	BRCA1	NM_007294.4(BRCA1):c.3972_3974delinsAA:p.Met1324fs	coding	Pathogenic
17	43091558	TC	T	C43091559A	BRCA1	NM_007294.4(BRCA1):c.3972del:p.Met1324fs	coding	Pathogenic
17	43091559	CATTT	C	A43091560G	BRCA1	NM_007294.4(BRCA1):c.3968_3971del:p.Gln1323fs	coding	Pathogenic
17	43091560	ATT	A	T43091562G	BRCA1	NM_007294.4(BRCA1):c.3969_3970del:p.Gln1323fs	coding	Pathogenic
17	43091560	ATTTG	A	T43091565G	BRCA1	NM_007294.4(BRCA1):c.3963_3966CAAA[1]:p.Lys1322_Gln1323insTer	coding	Pathogenic
17	43091563	TG	T	G43091564T	BRCA1	NM_007294.4(BRCA1):c.3967del:p.Gln1323fs	coding	Pathogenic
17	43091564	GT	G	T43091567G	BRCA1	NM_007294.4(BRCA1):c.3966del:p.Lys1322fs	coding	Pathogenic
17	43091569	GA	G	A43091571G	BRCA1	NM_007294.4(BRCA1):c.3961del:p.Ser1321fs	coding	Pathogenic
17	43091571	AG	A	G43091572A	BRCA1	NM_007294.4(BRCA1):c.3959del:p.Ser1320fs	coding	Pathogenic
17	43091573	AAC	A	A43091574C	BRCA1	NM_007294.4(BRCA1):c.3956_3957del:p.Gly1319fs	coding	Pathogenic
17	43091575	CCAAT	C	T43091579G	BRCA1	NM_007294.4(BRCA1):c.3952_3955del:p.Ile1318fs	coding	Pathogenic
17	43091576	CA	C	A43091578T	BRCA1	NM_007294.4(BRCA1):c.3954del:p.Ile1318fs	coding	Pathogenic
17	43091576	C	CA	T43091579A	BRCA1	NM_007294.4(BRCA1):c.3954dup:p.Gly1319fs	coding	Pathogenic
17	43091580	CAAGA	C	A43091584G	BRCA1	NM_007294.4(BRCA1):c.3947_3950del:p.Pro1315_Phe1316insTer	coding	Pathogenic
17	43091596	G	GTGTT	A43091604T	BRCA1	NM_007294.4(BRCA1):c.3931_3934dup:p.Thr1312fs	coding	Pathogenic
17	43091596	GTGTT	G	T43091600A	BRCA1	NM_007294.4(BRCA1):c.3931_3934del:p.Asn1311fs	coding	Pathogenic
17	43091598	GT	G	T43091601G	BRCA1	NM_007294.4(BRCA1):c.3932del:p.Asn1311fs	coding	Pathogenic
17	43091600	TTGTA	T	G43091602T	BRCA1	NM_007294.4(BRCA1):c.3927_3930del:p.Asn1309fs	coding	Pathogenic
17	43091602	G	GT	A43091604T	BRCA1	NM_007294.4(BRCA1):c.3928dup:p.Thr1310fs	coding	Pathogenic
17	43091604	AT	A	T43091607G	BRCA1	NM_007294.4(BRCA1):c.3926del:p.Asn1309fs	coding	Pathogenic
17	43091613	CAA	C	A43091614G	BRCA1	NM_007294.4(BRCA1):c.3916_3917del:p.Leu1306fs	coding	Pathogenic
17	43091613	CA	C	A43091615G	BRCA1	NM_007294.4(BRCA1):c.3917del:p.Asp1305_Leu1306insTer	coding	Pathogenic
17	43091616	GT	G	T43091617C	BRCA1	NM_007294.4(BRCA1):c.3914del:p.Asp1305fs	coding	Pathogenic
17	43091620	TC	T	C43091622A	BRCA1	NM_007294.4(BRCA1):c.3910del:p.Glu1304fs	coding	Pathogenic
17	43091621	C	CCA	A43091624C	BRCA1	NM_007294.4(BRCA1):c.3908_3909dup:p.Glu1304fs	coding	Pathogenic
17	43091622	C	CA	T43091625A	BRCA1	NM_007294.4(BRCA1):c.3908dup:p.Leu1303fs	coding	Pathogenic
17	43091623	AA	TCC	A43091623T	BRCA1	NM_007294.4(BRCA1):c.3907_3908delinsGGA:p.Leu1303fs	coding	Pathogenic
17	43091628	ACT	A	C43091629G	BRCA1	NM_007294.4(BRCA1):c.3901_3902del:p.Cys1300_Ser1301insTer	coding	Pathogenic
17	43091641	GA	G	A43091645C	BRCA1	NM_007294.4(BRCA1):c.3889del:p.Ser1297fs	coding	Pathogenic
17	43091645	AC	A	C43091646A	BRCA1	NM_007294.4(BRCA1):c.3885del:p.Leu1295fs	coding	Pathogenic
17	43091647	AAGCT	A	T43091651A	BRCA1	NM_007294.4(BRCA1):c.3880_3883del:p.Ser1294fs	coding	Pathogenic
17	43091648	AG	A	G43091649C	BRCA1	NM_007294.4(BRCA1):c.3882del:p.Leu1295fs	coding	Pathogenic
17	43091653	GCAGAACAT	G	C43091654T	BRCA1	NM_007294.4(BRCA1):c.3870_3877del:p.Lys1290fs	coding	Pathogenic
17	43091653	GCA	G	C43091654G	BRCA1	NM_007294.4(BRCA1):c.3876_3877del:p.Ser1292_Ala1293insTer	coding	Pathogenic
17	43091654	CA	C	A43091655G	BRCA1	NM_007294.4(BRCA1):c.3876del:p.Ala1293fs	coding	Pathogenic
17	43091656	GA	G	A43091658C	BRCA1	NM_007294.4(BRCA1):c.3874del:p.Ser1292fs	coding	Pathogenic
17	43091658	A	AG	C43091659G	BRCA1	NM_007294.4(BRCA1):c.3872_3873insC:p.Ser1292fs	coding	Pathogenic
17	43091658	AC	A	C43091659A	BRCA1	NM_007294.4(BRCA1):c.3872del:p.Cys1291fs	coding	Pathogenic
17	43091659	CATTTT	C	A43091660G	BRCA1	NM_007294.4(BRCA1):c.3867_3871del:p.Lys1290fs	coding	Pathogenic
17	43091659	C	CG	A43091660G	BRCA1	NM_007294.4(BRCA1):c.3871_3872insC:p.Cys1291fs	coding	Pathogenic
17	43091660	A	AG	T43091661G	BRCA1	NM_007294.4(BRCA1):c.3870_3871insC:p.Cys1291fs	coding	Pathogenic
17	43091660	ATT	A	T43091663G	BRCA1	NM_007294.4(BRCA1):c.3869_3870del:p.Lys1290fs	coding	Pathogenic
17	43091668	TC	T	C43091670T	BRCA1	NM_007294.4(BRCA1):c.3862del:p.Glu1288fs	coding	Pathogenic
17	43091669	CCTCA	C	C43091672A	BRCA1	NM_007294.4(BRCA1):c.3858_3861del:p.Ser1286fs	coding	Pathogenic
17	43091674	CT	C	T43091675A	BRCA1	NM_007294.4(BRCA1):c.3856del:p.Ser1286fs	coding	Pathogenic
17	43091677	AG	A	G43091679T	BRCA1	NM_007294.4(BRCA1):c.3853del:p.Ser1286fs	coding	Pathogenic
17	43091678	G	GGT	A43091682T	BRCA1	NM_007294.4(BRCA1):c.3851_3852dup:p.Leu1285fs	coding	Pathogenic
17	43091680	TGATGTTCCTGA	T	T43091685C	BRCA1	NM_007294.4(BRCA1):c.3840_3850del:p.Gln1281fs	coding	Pathogenic
17	43091686	TC	T	C43091688T	BRCA1	NM_007294.4(BRCA1):c.3844del:p.Glu1282fs	coding	Pathogenic
17	43091687	CCTGAG	C	C43091688A	BRCA1	NM_007294.4(BRCA1):c.3839_3843del:p.Ala1279_Ser1280insTer	coding	Pathogenic
17	43091688	CTGAG	GCCT	C43091688G	BRCA1	NM_007294.4(BRCA1):c.3839_3843delinsAGGC:p.Ser1280_Gln1281delinsTer	coding	Pathogenic
17	43091688	CTG	C	T43091689A	BRCA1	NM_007294.4(BRCA1):c.3841_3842del:p.Gln1281fs	coding	Pathogenic
17	43091690	GAGAT	G	A43091691G	BRCA1	NM_007294.4(BRCA1):c.3837_3840del:p.Ser1280fs	coding	Pathogenic
17	43091695	GC	G	C43091697T	BRCA1	NM_007294.4(BRCA1):c.3835del:p.Ala1279fs	coding	Pathogenic
17	43091697	CT	C	T43091700G	BRCA1	NM_007294.4(BRCA1):c.3833del:p.Lys1278fs	coding	Pathogenic
17	43091700	T	TG	C43091702G	BRCA1	NM_007294.4(BRCA1):c.3830dup:p.Ala1279fs	coding	Pathogenic
17	43091705	A	AT	A43091707T	BRCA1	NM_007294.4(BRCA1):c.3825dup:p.Leu1276fs	coding	Pathogenic
17	43091705	AT	A	T43091706A	BRCA1	NM_007294.4(BRCA1):c.3825del:p.Leu1276fs	coding	Pathogenic
17	43091706	T	TA	T43091708A	BRCA1	NM_007294.4(BRCA1):c.3824dup:p.Leu1276fs	coding	Pathogenic
17	43091707	ATTACC	A	T43091709G	BRCA1	NM_007294.4(BRCA1):c.3819_3823del:p.Gln1273fs	coding	Pathogenic
17	43091709	T	TA	C43091711A	BRCA1	NM_007294.4(BRCA1):c.3821dup:p.Ile1275fs	coding	Pathogenic
17	43091710	A	AC	T43091713C	BRCA1	NM_007294.3(BRCA1):c.3820dupG:p.Val1274Glyfs	coding	Pathogenic
17	43091710	AC	A	C43091712T	BRCA1	NM_007294.4(BRCA1):c.3820del:p.Gln1273_Val1274insTer	coding	Pathogenic
17	43091715	G	GA	T43091716A	BRCA1	NM_007294.4(BRCA1):c.3815_3816insT:p.Gln1273fs	coding	Pathogenic
17	43091716	T	TA	T43091717A	BRCA1	NM_007294.4(BRCA1):c.3814_3815insT:p.Asn1272fs	coding	Pathogenic
17	43091717	T	TA	C43091719A	BRCA1	NM_007294.4(BRCA1):c.3813dup:p.Asn1272Ter	coding	Pathogenic
17	43091736	AT	A	T43091738C	BRCA1	NM_007294.4(BRCA1):c.3794del:p.Asn1265fs	coding	Pathogenic
17	43091739	CT	C	T43091741C	BRCA1	NM_007294.4(BRCA1):c.3791del:p.Lys1264fs	coding	Pathogenic/Likely_pathogenic
17	43091748	TA	T	A43091750T	BRCA1	NM_007294.4(BRCA1):c.3782del:p.Leu1261fs	coding	Pathogenic
17	43091750	A	AT	A43091752T	BRCA1	NM_007294.4(BRCA1):c.3780dup:p.Leu1261fs	coding	Pathogenic
17	43091751	TA	T	A43091754T	BRCA1	NM_007294.4(BRCA1):c.3779del:p.Leu1260fs	coding	Pathogenic
17	43091752	AAATTCTCC	A	A43091753T	BRCA1	NM_007294.4(BRCA1):c.3771_3778del:p.Glu1257fs	coding	Pathogenic
17	43091752	A	AT	A43091753T	BRCA1	NM_007294.4(BRCA1):c.3778_3779insA:p.Leu1260fs	coding	Pathogenic
17	43091753	AATTCTCCT	A	A43091754C	BRCA1	NM_007294.4(BRCA1):c.3770_3777del:p.Glu1257fs	coding	Pathogenic
17	43091754	ATTCTC	A	T43091755C	BRCA1	NM_007294.4(BRCA1):c.3772_3776del:p.Glu1258fs	coding	Pathogenic
17	43091755	TTC	T	T43091758C	BRCA1	NM_007294.4(BRCA1):c.3772_3773GA[1]:p.Asn1259fs	coding	Pathogenic
17	43091758	TCC	T	C43091759T	BRCA1	NM_007294.4(BRCA1):c.3771_3772del:p.Asn1259fs	coding	Pathogenic
17	43091759	CC	G	C43091759G	BRCA1	NM_007294.4(BRCA1):c.3771_3772delinsC:p.Glu1257fs	coding	Pathogenic
17	43091759	CCT	C	C43091762G	BRCA1	NM_007294.4(BRCA1):c.3768_3769AG[1]:p.Glu1257fs	coding	Pathogenic
17	43091761	TCTGTGTTCTTAGACAGACA	T	G43091764C	BRCA1	NM_007294.4(BRCA1):c.3751_3769del:p.Cys1251fs	coding	Pathogenic
17	43091762	CTG	C	G43091766T	BRCA1	NM_007294.4(BRCA1):c.3765_3766CA[1]:p.Thr1256fs	coding	Pathogenic
17	43091764	G	GT	G43091766T	BRCA1	NM_007294.4(BRCA1):c.3766dup:p.Thr1256fs	coding	Pathogenic
17	43091765	TG	T	G43091766T	BRCA1	NM_007294.4(BRCA1):c.3765del:p.Asn1255fs	coding	Pathogenic
17	43091766	G	GT	C43091769T	BRCA1	NM_007294.3(BRCA1):c.3764dupA:p.Asn1255Lysfs	coding	Pathogenic
17	43091766	GTT	G	T43091767C	BRCA1	NM_007294.4(BRCA1):c.3763_3764del:p.Asn1255fs	coding	Pathogenic
17	43091767	TTC	T	C43091769T	BRCA1	NM_007294.4(BRCA1):c.3762_3763del:p.Asn1255fs	coding	Pathogenic
17	43091768	T	TAA	C43091769A	BRCA1	NM_007294.4(BRCA1):c.3762_3763insTT:p.Asn1255fs	coding	Pathogenic
17	43091769	C	CAA	T43091770A	BRCA1	NM_007294.4(BRCA1):c.3761_3762insTT:p.Lys1254fs	coding	Pathogenic
17	43091769	C	CA	T43091770A	BRCA1	NM_007294.4(BRCA1):c.3761_3762insT:p.Lys1254fs	coding	Pathogenic
17	43091770	TTAGAC	T	T43091771A	BRCA1	NM_007294.4(BRCA1):c.3756_3760del:p.Ser1253fs	coding	Pathogenic
17	43091770	T	TA	T43091771A	BRCA1	NM_007294.4(BRCA1):c.3760_3761insT:p.Lys1254fs	coding	Pathogenic
17	43091770	TTA	T	T43091771G	BRCA1	NM_007294.4(BRCA1):c.3759_3760del:p.Lys1254fs	coding	Pathogenic
17	43091771	TAGAC	T	G43091777C	BRCA1	NM_007294.4(BRCA1):c.3752_3755GTCT[1]:p.Ser1253fs	coding	Pathogenic
17	43091771	TAG	T	G43091773C	BRCA1	NM_007294.4(BRCA1):c.3758_3759del:p.Leu1252_Ser1253insTer	coding	Pathogenic
17	43091771	TA	T	A43091772G	BRCA1	NM_007294.4(BRCA1):c.3759del:p.Lys1254fs	coding	Pathogenic
17	43091771	T	TA	G43091773A	BRCA1	NM_007294.3(BRCA1):c.3759dupT:p.Lys1254Terfs	coding	Pathogenic
17	43091773	GAC	G	C43091775G	BRCA1	NM_007294.4(BRCA1):c.3756_3757del:p.Leu1252_Ser1253insTer	coding	Pathogenic
17	43091775	CAG	C	G43091777C	BRCA1	NM_007294.4(BRCA1):c.3754_3755del:p.Leu1252fs	coding	Pathogenic
17	43091778	ACACT	A	A43091780G	BRCA1	NM_007294.4(BRCA1):c.3749_3752del:p.Glu1250fs	coding	Pathogenic
17	43091780	AC	A	C43091781T	BRCA1	NM_007294.4(BRCA1):c.3750del:p.Glu1250fs	coding	Pathogenic
17	43091782	T	TG	C43091783G	BRCA1	NM_007294.4(BRCA1):c.3748_3749insC:p.Glu1250fs	coding	Pathogenic
17	43091783	C	CGGTAGCAACGGTGCTATGCCTAGTAGACTGAGAAGGTATATTG	T43091827G	BRCA1	NM_007294.4(BRCA1):c.3705_3747dup:p.Glu1250delinsGlnTyrThrPheSerValTyrTer	coding	Pathogenic
17	43091783	C	CG	T43091786G	BRCA1	NM_007294.4(BRCA1):c.3747dup:p.Glu1250fs	coding	Pathogenic
17	43091783	CGGTAGCAACGGTGCTATGCCTAGTAGACTGAGAA	C	G43091788T	BRCA1	NM_007294.4(BRCA1):c.3714_3747del:p.Gln1240fs	coding	Pathogenic
17	43091787	AGCAACGGTGCTAT	A	A43091790C	BRCA1	NM_007294.4(BRCA1):c.3731_3743del:p.His1244fs	coding	Pathogenic
17	43091790	AACGGTGCTATGCCTAGTAG	A	G43091793T	BRCA1	NM_007294.4(BRCA1):c.3722_3740del:p.Ser1241fs	coding	Pathogenic
17	43091792	CGGTGCTAT	C	G43091794C	BRCA1	NM_007294.4(BRCA1):c.3731_3738del:p.His1244fs	coding	Pathogenic
17	43091794	GT	G	T43091795G	BRCA1	NM_007294.4(BRCA1):c.3736del:p.Thr1246fs	coding	Pathogenic
17	43091796	GC	G	C43091797T	BRCA1	NM_007294.4(BRCA1):c.3734del:p.Ser1245fs	coding	Pathogenic
17	43091800	T	TCCTAGTAGACTGAGAAGGTATATTGTTTACTTTACCAAATAACAAGTGTC	G43091801C	BRCA1	NM_007294.4(BRCA1):c.3730_3731insGACACTTGTTATTTGGTAAAGTAAACAATATACCTTCTCAGTCTACTAGG:p.His1244fs	coding	Pathogenic
17	43091801	G	GCCTAGTAGACTGAGAAGGTATATTGTTTACTTTACCAAATAACAAGTGTC	T43091851C	BRCA1	NM_007294.4(BRCA1):c.3729_3730insGACACTTGTTATTTGGTAAAGTAAACAATATACCTTCTCAGTCTACTAGG:p.His1244delinsAspThrCysTyrLeuValLysTer	coding	Pathogenic
17	43091804	T	TA	G43091806A	BRCA1	NM_007294.4(BRCA1):c.3726dup:p.Arg1243Ter	coding	Pathogenic
17	43091814	A	AG	A43091816G	BRCA1	NM_007294.4(BRCA1):c.3716dup:p.Gln1240fs	coding	Pathogenic
17	43091814	AGA	G	A43091814G	BRCA1	NM_007294.4(BRCA1):c.3715_3717delinsC:p.Ser1239fs	coding	Pathogenic
17	43091815	GAAGGT	G	A43091817T	BRCA1	NM_007294.4(BRCA1):c.3711_3715del:p.Pro1238fs	coding	Pathogenic
17	43091815	GA	G	A43091817G	BRCA1	NM_007294.4(BRCA1):c.3715del:p.Ser1239fs	coding	Pathogenic
17	43091817	AGGTATATT	A	G43091819T	BRCA1	NM_007294.4(BRCA1):c.3706_3713del:p.Asn1236fs	coding	Pathogenic
17	43091818	GGT	G	G43091819A	BRCA1	NM_007294.4(BRCA1):c.3711_3712del:p.Pro1238fs	coding	Pathogenic
17	43091819	G	GTA	T43091825A	BRCA1	NM_007294.4(BRCA1):c.3708_3709TA[3]:p.Pro1238fs	coding	Pathogenic
17	43091820	TA	T	A43091821T	BRCA1	NM_007294.4(BRCA1):c.3710del:p.Ile1237fs	coding	Pathogenic
17	43091823	ATT	A	T43091824G	BRCA1	NM_007294.4(BRCA1):c.3706_3707del:p.Asn1236fs	coding	Pathogenic
17	43091823	ATTGT	A	G43091826A	BRCA1	NM_007294.4(BRCA1):c.3704_3707del:p.Asn1235fs	coding	Pathogenic
17	43091826	GT	G	T43091829A	BRCA1	NM_007294.4(BRCA1):c.3704del:p.Asn1235fs	coding	Pathogenic
17	43091826	GTTTAC	G	T43091832C	BRCA1	NM_007294.4(BRCA1):c.3695_3699GTAAA[1]:p.Val1234fs	coding	Pathogenic
17	43091831	CT	C	T43091834A	BRCA1	NM_007294.4(BRCA1):c.3699del:p.Lys1233_Val1234insTer	coding	Pathogenic
17	43091832	TTTAC	T	T43091833C	BRCA1	NM_007294.4(BRCA1):c.3695_3698del:p.Gly1232fs	coding	Pathogenic
17	43091835	AC	A	C43091837A	BRCA1	NM_007294.4(BRCA1):c.3695del:p.Gly1232fs	coding	Pathogenic
17	43091837	C	CA	T43091841A	BRCA1	NM_007294.4(BRCA1):c.3693dup:p.Gly1232fs	coding	Pathogenic
17	43091847	GT	G	T43091848G	BRCA1	NM_007294.4(BRCA1):c.3683del:p.His1228fs	coding	Pathogenic
17	43091851	TGGAA	T	G43091853C	BRCA1	NM_007294.4(BRCA1):c.3676_3679del:p.Phe1226fs	coding	Pathogenic
17	43091858	AG	A	G43091861A	BRCA1	NM_007294.4(BRCA1):c.3672del:p.Cys1225fs	coding	Pathogenic
17	43091859	G	GGGAA	C43091865G	BRCA1	NM_007294.3(BRCA1):c.3668_3671dupTTCC:p.Cys1225Serfs	coding	Pathogenic
17	43091861	GA	G	A43091863G	BRCA1	NM_007294.4(BRCA1):c.3669del:p.Cys1225fs	coding	Pathogenic
17	43091864	GCT	G	C43091867T	BRCA1	NM_007294.4(BRCA1):c.3663_3664AG[1]:p.Glu1222fs	coding	Pathogenic
17	43091865	CT	C	T43091866C	BRCA1	NM_007294.4(BRCA1):c.3665del:p.Glu1222fs	coding	Pathogenic
17	43091872	TC	T	C43091874T	BRCA1	NM_007294.4(BRCA1):c.3658del:p.Asp1220fs	coding	Pathogenic
17	43091878	CTAGAT	C	T43091879A	BRCA1	NM_007294.4(BRCA1):c.3648_3652del:p.Leu1216_Ser1217insTer	coding	Pathogenic
17	43091879	T	TA	G43091881A	BRCA1	NM_007294.4(BRCA1):c.3651dup:p.Ser1218Ter	coding	Pathogenic
17	43091880	A	AT	G43091881T	BRCA1	NM_007294.4(BRCA1):c.3650_3651insA:p.Ser1217_Ser1218insTer	coding	Pathogenic
17	43091881	G	GA	T43091883A	BRCA1	NM_007294.4(BRCA1):c.3649dup:p.Ser1217fs	coding	Pathogenic
17	43091881	G	GT	A43091882T	BRCA1	NM_007294.4(BRCA1):c.3649_3650insA:p.Ser1217fs	coding	Pathogenic
17	43091882	A	AT	A43091884T	BRCA1	NM_007294.3(BRCA1):c.3648dupA:p.Ser1217Ilefs	coding	Pathogenic
17	43091882	ATAAGT	A	A43091884C	BRCA1	NM_007294.4(BRCA1):c.3644_3648del:p.Asn1215fs	coding	Pathogenic
17	43091886	GTTCTC	G	C43091891G	BRCA1	NM_007294.4(BRCA1):c.3640_3644del:p.Glu1214fs	coding	Pathogenic
17	43091887	TTC	T	C43091891T	BRCA1	NM_007294.4(BRCA1):c.3640_3641GA[1]:p.Asn1215fs	coding	Pathogenic
17	43091887	T	TTC	T43091893C	BRCA1	NM_007294.4(BRCA1):c.3640_3641GA[3]:p.Asn1215fs	coding	Pathogenic
17	43091889	CT	C	T43091890C	BRCA1	NM_007294.4(BRCA1):c.3641del:p.Glu1214fs	coding	Pathogenic
17	43091893	TC	T	C43091894T	BRCA1	NM_007294.4(BRCA1):c.3637del:p.Glu1213fs	coding	Pathogenic
17	43091896	GAGGA	G	A43091897C	BRCA1	NM_007294.4(BRCA1):c.3631_3634del:p.Ser1211fs	coding	Pathogenic
17	43091900	ACT	A	C43091903A	BRCA1	NM_007294.4(BRCA1):c.3627_3628AG[1]:p.Glu1210fs	coding	Pathogenic
17	43091901	C	CT	C43091903T	BRCA1	NM_007294.4(BRCA1):c.3629dup:p.Ser1211fs	coding	Pathogenic
17	43091902	TC	T	C43091903T	BRCA1	NM_007294.4(BRCA1):c.3628del:p.Glu1210fs	coding	Pathogenic
17	43091903	C	CT	A43091905T	BRCA1	NM_007294.3(BRCA1):c.3627dupA:p.Glu1210Argfs	coding	Pathogenic
17	43091904	TA	T	A43091906T	BRCA1	NM_007294.4(BRCA1):c.3626del:p.Lys1208_Leu1209insTer	coding	Pathogenic
17	43091904	T	TA	T43091907A	BRCA1	NM_007294.4(BRCA1):c.3626dup:p.Leu1209fs	coding	Pathogenic
17	43091905	A	AT	A43091906T	BRCA1	NM_007294.4(BRCA1):c.3625_3626insA:p.Leu1209fs	coding	Pathogenic
17	43091905	AATTTC	TT	A43091905T	BRCA1	NM_007294.4(BRCA1):c.3621_3626delinsAA:p.Leu1209fs	coding	Pathogenic
17	43091906	A	AT	C43091910T	BRCA1	NM_007294.4(BRCA1):c.3624dup:p.Leu1209fs	coding	Pathogenic
17	43091906	AT	A	T43091909C	BRCA1	NM_007294.4(BRCA1):c.3624del:p.Lys1208fs	coding	Pathogenic
17	43091909	TC	T	C43091910T	BRCA1	NM_007294.4(BRCA1):c.3621del:p.Lys1208fs	coding	Pathogenic
17	43091910	C	CT	G43091913T	BRCA1	NM_007294.4(BRCA1):c.3620dup:p.Lys1208fs	coding	Pathogenic
17	43091914	GC	G	C43091918T	BRCA1	NM_007294.4(BRCA1):c.3616del:p.Ala1206fs	coding	Pathogenic
17	43091918	CT	C	T43091919C	BRCA1	NM_007294.4(BRCA1):c.3612del:p.Ala1206fs	coding	Pathogenic
17	43091925	G	GT	A43091927T	BRCA1	NM_007294.4(BRCA1):c.3605dup:p.Tyr1202Ter	coding	Pathogenic
17	43091926	TA	T	A43091928C	BRCA1	NM_007294.4(BRCA1):c.3604del:p.Tyr1202fs	coding	Pathogenic
17	43091928	ACCCTGAG	A	C43091931A	BRCA1	NM_007294.4(BRCA1):c.3596_3602del:p.Ala1199fs	coding	Pathogenic
17	43091930	CCT	C	C43091931G	BRCA1	NM_007294.4(BRCA1):c.3599_3600del:p.Gln1200fs	coding	Pathogenic
17	43091937	CA	C	A43091940T	BRCA1	NM_007294.4(BRCA1):c.3593del:p.Leu1198fs	coding	Pathogenic
17	43091937	C	CAA	T43091941A	BRCA1	NM_007294.4(BRCA1):c.3592_3593dup:p.Leu1198fs	coding	Pathogenic
17	43091940	AT	A	T43091941G	BRCA1	NM_007294.4(BRCA1):c.3590del:p.His1197fs	coding	Pathogenic
17	43091940	ATGTGTATG	A	T43091941G	BRCA1	NM_007294.4(BRCA1):c.3583_3590del:p.His1195fs	coding	Pathogenic
17	43091941	TGTGTATGG	T	T43091945A	BRCA1	NM_007294.4(BRCA1):c.3582_3589del:p.His1195fs	coding	Pathogenic
17	43091943	T	TG	T43091945G	BRCA1	NM_007294.4(BRCA1):c.3587dup:p.His1197fs	coding	Pathogenic
17	43091944	G	GT	A43091946T	BRCA1	NM_007294.3(BRCA1):c.3586dupA:p.Thr1196Asnfs	coding	Pathogenic
17	43091947	TG	T	G43091950T	BRCA1	NM_007294.4(BRCA1):c.3583del:p.His1195fs	coding	Pathogenic
17	43091950	G	GA	T43091951A	BRCA1	NM_007294.4(BRCA1):c.3580_3581insT:p.Thr1194fs	coding	Pathogenic
17	43091950	GT	G	T43091951G	BRCA1	NM_007294.4(BRCA1):c.3580del:p.Thr1194fs	coding	Pathogenic
17	43091951	T	TA	G43091952A	BRCA1	NM_007294.4(BRCA1):c.3579_3580insT:p.Thr1194fs	coding	Pathogenic
17	43091952	G	GA	G43091956A	BRCA1	NM_007294.4(BRCA1):c.3578dup:p.Thr1194fs	coding	Pathogenic
17	43091954	A	ATT	A43091955T	BRCA1	NM_007294.4(BRCA1):c.3576_3577insAA:p.Phe1193fs	coding	Pathogenic
17	43091959	CT	C	T43091960A	BRCA1	NM_007294.4(BRCA1):c.3571del:p.Ser1191fs	coding	Pathogenic
17	43091960	TAG	T	A43091961G	BRCA1	NM_007294.4(BRCA1):c.3569_3570del:p.Pro1190fs	coding	Pathogenic
17	43091960	TA	T	A43091961G	BRCA1	NM_007294.4(BRCA1):c.3570del:p.Ser1191fs	coding	Pathogenic
17	43091961	AG	A	G43091963A	BRCA1	NM_007294.4(BRCA1):c.3569del:p.Pro1190fs	coding	Pathogenic
17	43091966	T	TC	T43091969C	BRCA1	NM_007294.4(BRCA1):c.3564dup:p.Ser1189fs	coding	Pathogenic
17	43091980	CCT	C	C43091981T	BRCA1	NM_007294.4(BRCA1):c.3549_3550del:p.Gly1184fs	coding	Pathogenic
17	43091981	CT	A	C43091981A	BRCA1	NM_007294.4(BRCA1):c.3549_3550delinsT:p.Lys1183fs	coding	Pathogenic
17	43091981	CTT	C	T43091983C	BRCA1	NM_007294.4(BRCA1):c.3548_3549del:p.Lys1183fs	coding	Pathogenic
17	43091981	CTTT	ATC	C43091981A	BRCA1	NM_007294.4(BRCA1):c.3547_3550delinsGAT:p.Lys1183fs	coding	Pathogenic
17	43091987	G	GTC	G43091988T	BRCA1	NM_007294.4(BRCA1):c.3543_3544insGA:p.Gln1182fs	coding	Pathogenic
17	43091988	GAC	G	A43091989G	BRCA1	NM_007294.4(BRCA1):c.3541_3542del:p.Val1181fs	coding	Pathogenic
17	43091989	AC	A	C43091990G	BRCA1	NM_007294.4(BRCA1):c.3541del:p.Val1181fs	coding	Pathogenic
17	43091989	ACG	A	G43091991T	BRCA1	NM_007294.4(BRCA1):c.3540_3541del:p.Val1181fs	coding	Pathogenic
17	43091996	TG	T	G43091997C	BRCA1	NM_007294.4(BRCA1):c.3534del:p.Ser1178fs	coding	Pathogenic
17	43091998	CTA	TT	C43091998T	BRCA1	NM_007294.4(BRCA1):c.3531_3533delinsAA:p.Phe1177fs	coding	Pathogenic
17	43091999	TA	T	A43092004C	BRCA1	NM_007294.4(BRCA1):c.3531del:p.Phe1177fs	coding	Pathogenic
17	43091999	T	TA	C43092005A	BRCA1	NM_007294.4(BRCA1):c.3531dup:p.Ser1178Ter	coding	Pathogenic
17	43092004	AC	A	C43092005A	BRCA1	NM_007294.4(BRCA1):c.3526del:p.Val1176fs	coding	Pathogenic
17	43092018	CT	C	T43092020A	BRCA1	NM_007294.4(BRCA1):c.3512del:p.Lys1171fs	coding	Pathogenic
17	43092021	AATGTC	A	G43092024T	BRCA1	NM_007294.4(BRCA1):c.3505_3509del:p.Asn1168_Asp1169insTer	coding	Pathogenic
17	43092024	G	GT	C43092026T	BRCA1	NM_007294.4(BRCA1):c.3506dup:p.Asp1169fs	coding	Pathogenic
17	43092026	C	CT	A43092027T	BRCA1	NM_007294.4(BRCA1):c.3504_3505insA:p.Asp1169fs	coding	Pathogenic
17	43092027	A	AT	C43092032T	BRCA1	NM_007294.4(BRCA1):c.3503dup:p.Asn1168fs	coding	Pathogenic
17	43092027	AT	A	T43092031C	BRCA1	NM_007294.4(BRCA1):c.3503del:p.Asn1168fs	coding	Pathogenic
17	43092031	TCAGCAAAACTA	T	C43092032G	BRCA1	NM_007294.4(BRCA1):c.3489_3499del:p.Ser1164fs	coding	Pathogenic
17	43092032	CA	C	A43092033G	BRCA1	NM_007294.4(BRCA1):c.3498del:p.Glu1167fs	coding	Pathogenic
17	43092034	GC	G	C43092035A	BRCA1	NM_007294.4(BRCA1):c.3496del:p.Ala1166fs	coding	Pathogenic
17	43092035	CAA	C	A43092038C	BRCA1	NM_007294.4(BRCA1):c.3494_3495del:p.Phe1165fs	coding	Pathogenic
17	43092037	AAACTAGTATCTTC	A	A43092038C	BRCA1	NM_007294.4(BRCA1):c.3481_3493del:p.Glu1161fs	coding	Pathogenic
17	43092038	AACTAGTATCTT	A	A43092039C	BRCA1	NM_007294.4(BRCA1):c.3482_3492del:p.Glu1161fs	coding	Pathogenic
17	43092039	ACTAGTAT	A	A43092042T	BRCA1	NM_007294.4(BRCA1):c.3485_3491del:p.Asp1162fs	coding	Pathogenic
17	43092039	ACTAGTATCTTC	A	A43092042T	BRCA1	NM_007294.4(BRCA1):c.3481_3491del:p.Glu1161fs	coding	Pathogenic
17	43092042	AGTAT	A	G43092043C	BRCA1	NM_007294.4(BRCA1):c.3485_3488del:p.Asp1162fs	coding	Pathogenic
17	43092042	AGTATCTTCCT	A	G43092043T	BRCA1	NM_007294.4(BRCA1):c.3479_3488del:p.Lys1160fs	coding	Pathogenic
17	43092043	GTATCTTCCTT	G	C43092047T	BRCA1	NM_007294.4(BRCA1):c.3478_3487del:p.Lys1160fs	coding	Pathogenic
17	43092045	AT	A	T43092046C	BRCA1	NM_007294.4(BRCA1):c.3485del:p.Asp1162fs	coding	Pathogenic
17	43092047	CTTCCT	C	C43092050A	BRCA1	NM_007294.4(BRCA1):c.3479_3483del:p.Lys1160fs	coding	Pathogenic
17	43092049	TC	T	C43092051T	BRCA1	NM_007294.4(BRCA1):c.3481del:p.Glu1161fs	coding	Pathogenic
17	43092050	CCTTT	C	C43092051A	BRCA1	NM_007294.4(BRCA1):c.3477_3480del:p.Ile1159fs	coding	Pathogenic
17	43092051	C	CT	A43092055T	BRCA1	NM_007294.4(BRCA1):c.3479dup:p.Glu1161fs	coding	Pathogenic
17	43092051	CT	C	T43092054A	BRCA1	NM_007294.4(BRCA1):c.3479del:p.Lys1160fs	coding	Pathogenic
17	43092051	CTT	C	T43092053A	BRCA1	NM_007294.4(BRCA1):c.3478_3479del:p.Lys1160fs	coding	Pathogenic
17	43092052	TTT	G	T43092052G	BRCA1	NM_007294.4(BRCA1):c.3477_3479delinsC:p.Lys1160fs	coding	Pathogenic
17	43092055	A	AT	C43092059T	BRCA1	NM_007294.4(BRCA1):c.3475dup:p.Ile1159fs	coding	Pathogenic/Likely_pathogenic
17	43092055	AT	A	T43092058C	BRCA1	NM_007294.4(BRCA1):c.3475del:p.Glu1158_Ile1159insTer	coding	Pathogenic
17	43092062	CA	C	A43092063T	BRCA1	NM_007294.4(BRCA1):c.3468del:p.Asp1156fs	coding	Pathogenic
17	43092068	C	CT	A43092070T	BRCA1	NM_007294.4(BRCA1):c.3462dup:p.Asp1155fs	coding	Pathogenic
17	43092068	CTAACA	C	T43092069G	BRCA1	NM_007294.4(BRCA1):c.3458_3462del:p.Leu1153fs	coding	Pathogenic
17	43092070	AAC	A	C43092072G	BRCA1	NM_007294.4(BRCA1):c.3459_3460del:p.Leu1154fs	coding	Pathogenic
17	43092072	CA	C	A43092073G	BRCA1	NM_007294.4(BRCA1):c.3458del:p.Leu1153fs	coding	Pathogenic
17	43092075	GT	G	T43092076C	BRCA1	NM_007294.4(BRCA1):c.3455del:p.Asp1152fs	coding	Pathogenic
17	43092080	CA	C	A43092081G	BRCA1	NM_007294.4(BRCA1):c.3450del:p.Asp1151fs	coding	Pathogenic
17	43092080	C	CA	G43092082A	BRCA1	NM_007294.4(BRCA1):c.3450dup:p.Asp1151Ter	coding	Pathogenic
17	43092082	GGT	G	G43092085C	BRCA1	NM_007294.4(BRCA1):c.3447_3448del:p.Thr1149_Pro1150insTer	coding	Pathogenic
17	43092088	TC	T	C43092089A	BRCA1	NM_007294.4(BRCA1):c.3442del:p.Glu1148fs	coding	Pathogenic
17	43092089	CAG	C	G43092091A	BRCA1	NM_007294.4(BRCA1):c.3440_3441del:p.Cys1146_Ser1147insTer	coding	Pathogenic
17	43092091	GAACA	G	A43092095C	BRCA1	NM_007294.4(BRCA1):c.3436_3439del:p.Cys1146fs	coding	Pathogenic
17	43092097	AC	A	C43092099T	BRCA1	NM_007294.4(BRCA1):c.3433del:p.Val1145fs	coding	Pathogenic
17	43092103	G	TA	G43092103T	BRCA1	NM_007294.4(BRCA1):c.3428delinsTA:p.Ser1143fs	coding	Pathogenic
17	43092104	ATGCATGACTAC	G	A43092104G	BRCA1	NM_007294.4(BRCA1):c.3416_3427delinsC:p.Ser1139fs	coding	Pathogenic
17	43092106	GC	G	C43092107A	BRCA1	NM_007294.4(BRCA1):c.3424del:p.Ala1142fs	coding	Pathogenic
17	43092110	G	GA	C43092112A	BRCA1	NM_007294.4(BRCA1):c.3420dup:p.His1141fs	coding	Pathogenic
17	43092113	TA	T	A43092114C	BRCA1	NM_007294.4(BRCA1):c.3417del:p.Ser1139fs	coding	Pathogenic
17	43092114	A	AC	T43092116C	BRCA1	NM_007294.4(BRCA1):c.3416dup:p.Ser1139fs	coding	Pathogenic
17	43092114	AC	A	C43092115T	BRCA1	NM_007294.4(BRCA1):c.3416del:p.Ser1139fs	coding	Pathogenic
17	43092116	T	TC	T43092117C	BRCA1	NM_007294.4(BRCA1):c.3414_3415insG:p.Ser1139fs	coding	Pathogenic
17	43092117	TC	T	C43092120A	BRCA1	NM_007294.4(BRCA1):c.3413del:p.Gly1138fs	coding	Pathogenic
17	43092117	T	TC	A43092121C	BRCA1	NM_007294.4(BRCA1):c.3413dup:p.Ser1139fs	coding	Pathogenic
17	43092125	GCTGTT	G	G43092128A	BRCA1	NM_007294.4(BRCA1):c.3401_3405del:p.Glu1134fs	coding	Pathogenic
17	43092132	TAA	T	A43092133G	BRCA1	NM_007294.4(BRCA1):c.3397_3398del:p.Leu1133fs	coding	Pathogenic
17	43092134	AG	A	G43092135T	BRCA1	NM_007294.4(BRCA1):c.3396del:p.Asn1132_Leu1133insTer	coding	Pathogenic
17	43092135	GT	G	T43092137A	BRCA1	NM_007294.4(BRCA1):c.3395del:p.Asn1132fs	coding	Pathogenic
17	43092139	TCTGAAATC	T	C43092140A	BRCA1	NM_007294.4(BRCA1):c.3384_3391del:p.Leu1128_Ile1129insTer	coding	Pathogenic
17	43092140	CT	C	T43092141G	BRCA1	NM_007294.4(BRCA1):c.3390del:p.Asp1131fs	coding	Pathogenic
17	43092142	GA	G	A43092145T	BRCA1	NM_007294.4(BRCA1):c.3388del:p.Ser1130fs	coding	Pathogenic
17	43092153	TG	T	G43092155A	BRCA1	NM_007294.4(BRCA1):c.3377del:p.Pro1126fs	coding	Pathogenic
17	43092154	GGA	G	G43092159A	BRCA1	NM_007294.4(BRCA1):c.3371_3372TC[2]:p.Pro1126fs	coding	Pathogenic
17	43092157	G	GA	G43092159A	BRCA1	NM_007294.4(BRCA1):c.3373dup:p.Ser1125fs	coding	Pathogenic
17	43092162	ATCTGTATTAAC	A	T43092163A	BRCA1	NM_007294.4(BRCA1):c.3358_3368del:p.Val1120fs	coding	Pathogenic
17	43092164	CTG	C	G43092166A	BRCA1	NM_007294.4(BRCA1):c.3365_3366del:p.Thr1122fs	coding	Pathogenic
17	43092167	TATTAA	T	A43092168C	BRCA1	NM_007294.4(BRCA1):c.3359_3363del:p.Val1120fs	coding	Pathogenic
17	43092168	AT	A	T43092170A	BRCA1	NM_007294.4(BRCA1):c.3362del:p.Asn1121fs	coding	Pathogenic
17	43092170	TAA	T	A43092171C	BRCA1	NM_007294.4(BRCA1):c.3359_3360del:p.Val1120fs	coding	Pathogenic
17	43092170	T	TA	C43092173A	BRCA1	NM_007294.4(BRCA1):c.3360dup:p.Asn1121Ter	coding	Pathogenic
17	43092171	AAC	A	C43092173G	BRCA1	NM_007294.4(BRCA1):c.3358_3359del:p.Thr1119_Val1120insTer	coding	Pathogenic
17	43092173	CA	C	A43092174G	BRCA1	NM_007294.4(BRCA1):c.3357del:p.Val1120fs	coding	Pathogenic
17	43092175	GTC	G	C43092177G	BRCA1	NM_007294.4(BRCA1):c.3354_3355del:p.Gln1118fs	coding	Pathogenic
17	43092179	G	GA	C43092182A	BRCA1	NM_007294.4(BRCA1):c.3351dup:p.Gln1118fs	coding	Pathogenic
17	43092184	ACTT	A	T43092189A	BRCA1	NM_007294.4(BRCA1):c.3341_3343AAG[1]:p.Glu1115del	coding	Benign
17	43092185	CTTCT	C	T43092187C	BRCA1	NM_007294.4(BRCA1):c.3342_3345del:p.Glu1114_Glu1115insTer	coding	Pathogenic
17	43092187	TC	T	C43092188T	BRCA1	NM_007294.4(BRCA1):c.3343del:p.Glu1115fs	coding	Pathogenic
17	43092189	TTCA	T	C43092191A	BRCA1	NM_007294.4(BRCA1):c.3339_3341del:p.Tyr1113_Glu1114delinsTer	coding	Pathogenic
17	43092194	ATTCT	A	T43092196G	BRCA1	NM_007294.4(BRCA1):c.3333_3336del:p.Gln1111fs	coding	Pathogenic
17	43092195	TTCTTG	T	T43092196C	BRCA1	NM_007294.4(BRCA1):c.3331_3335del:p.Gln1111fs	coding	Pathogenic
17	43092196	TC	T	C43092197T	BRCA1	NM_007294.4(BRCA1):c.3334del:p.Glu1112fs	coding	Pathogenic
17	43092196	TCTTG	T	G43092200T	BRCA1	NM_007294.4(BRCA1):c.3331_3334del:p.Gln1111fs	coding	Pathogenic
17	43092197	C	CT	G43092200T	BRCA1	NM_007294.4(BRCA1):c.3333dup:p.Glu1112fs	coding	Pathogenic
17	43092197	CT	C	T43092199G	BRCA1	NM_007294.4(BRCA1):c.3333del:p.Glu1112fs	coding	Pathogenic
17	43092199	TG	T	G43092200C	BRCA1	NM_007294.4(BRCA1):c.3331del:p.Gln1111fs	coding	Pathogenic
17	43092200	GC	G	C43092201T	BRCA1	NM_007294.4(BRCA1):c.3330del:p.Lys1110fs	coding	Pathogenic
17	43092200	GCT	G	C43092201T	BRCA1	NM_007294.4(BRCA1):c.3329_3330del:p.Lys1110fs	coding	Pathogenic
17	43092200	G	GT	C43092201T	BRCA1	NM_007294.4(BRCA1):c.3330_3331insA:p.Gln1111fs	coding	Pathogenic
17	43092201	C	CT	A43092208T	BRCA1	NM_007294.3(BRCA1):c.3329dupA:p.Gln1111Alafs	coding	Pathogenic
17	43092201	CT	C	T43092207A	BRCA1	NM_007294.4(BRCA1):c.3329del:p.Lys1110fs	coding	Pathogenic
17	43092201	CTTTT	C	T43092204A	BRCA1	NM_007294.4(BRCA1):c.3326_3329del:p.Lys1109fs	coding	Pathogenic
17	43092201	CTTTTT	C	T43092203A	BRCA1	NM_007294.4(BRCA1):c.3325_3329del:p.Lys1109fs	coding	Pathogenic
17	43092204	TTTTA	T	A43092208C	BRCA1	NM_007294.4(BRCA1):c.3323_3326del:p.Ile1108fs	coding	Pathogenic
17	43092206	TTA	T	A43092208T	BRCA1	NM_007294.4(BRCA1):c.3323_3324del:p.Ile1108fs	coding	Pathogenic
17	43092213	AG	A	G43092215A	BRCA1	NM_007294.4(BRCA1):c.3317del:p.Pro1106fs	coding	Pathogenic
17	43092216	AT	A	T43092217G	BRCA1	NM_007294.4(BRCA1):c.3314del:p.His1105fs	coding	Pathogenic
17	43092221	T	TG	A43092222G	BRCA1	NM_007294.4(BRCA1):c.3309_3310insC:p.Lys1104fs	coding	Pathogenic
17	43092222	A	AG	C43092223G	BRCA1	NM_007294.4(BRCA1):c.3308_3309insC:p.Cys1103_Lys1104insTer	coding	Pathogenic
17	43092223	CAATT	C	A43092225C	BRCA1	NM_007294.4(BRCA1):c.3304_3307del:p.Asn1102fs	coding	Pathogenic
17	43092223	C	CG	A43092224G	BRCA1	NM_007294.4(BRCA1):c.3307_3308insC:p.Cys1103fs	coding	Pathogenic
17	43092225	ATTAC	A	A43092228C	BRCA1	NM_007294.4(BRCA1):c.3302_3305del:p.Ser1101fs	coding	Pathogenic
17	43092234	AG	A	G43092236A	BRCA1	NM_007294.4(BRCA1):c.3296del:p.Pro1099fs	coding	Pathogenic
17	43092236	GA	G	A43092238G	BRCA1	NM_007294.4(BRCA1):c.3294del:p.Pro1099fs	coding	Pathogenic
17	43092237	AAG	A	G43092239C	BRCA1	NM_007294.4(BRCA1):c.3292_3293del:p.Leu1098fs	coding	Pathogenic
17	43092241	C	CT	G43092245T	BRCA1	NM_007294.4(BRCA1):c.3289dup:p.Ser1097fs	coding	Pathogenic
17	43092241	CT	C	T43092244G	BRCA1	NM_007294.4(BRCA1):c.3289del:p.Ser1097fs	coding	Pathogenic
17	43092241	CTT	C	T43092243G	BRCA1	NM_007294.4(BRCA1):c.3288_3289del:p.Leu1098fs	coding	Pathogenic
17	43092242	T	TTTGTTTATAGACCTCAGGTTGCAAAACCCCTAATCTAAGCATAGCA	C43092291G	BRCA1	NM_007294.4(BRCA1):c.3243_3288dup:p.Ser1097delinsCysTyrAlaTer	coding	Pathogenic
17	43092244	TG	T	G43092245T	BRCA1	NM_007294.4(BRCA1):c.3286del:p.Gln1096fs	coding	Pathogenic
17	43092245	GT	G	T43092248A	BRCA1	NM_007294.4(BRCA1):c.3285del:p.Lys1095fs	coding	Pathogenic
17	43092250	TAG	T	G43092252C	BRCA1	NM_007294.4(BRCA1):c.3279_3280del:p.Val1093_Tyr1094insTer	coding	Pathogenic
17	43092251	AG	A	G43092252A	BRCA1	NM_007294.4(BRCA1):c.3279del:p.Tyr1094fs	coding	Pathogenic
17	43092253	ACCTCAGGTTGCAAAAC	A	T43092256C	BRCA1	NM_007294.4(BRCA1):c.3262_3277del:p.Val1088fs	coding	Pathogenic
17	43092264	CA	C	A43092268C	BRCA1	NM_007294.4(BRCA1):c.3266del:p.Leu1089fs	coding	Pathogenic
17	43092268	AC	A	C43092272T	BRCA1	NM_007294.4(BRCA1):c.3262del:p.Val1088fs	coding	Pathogenic
17	43092270	C	CTAG	C43092271T	BRCA1	NM_007294.4(BRCA1):c.3260_3261insCTA:p.Val1088_Leu1089insTer	coding	Pathogenic
17	43092272	CT	C	T43092273A	BRCA1	NM_007294.4(BRCA1):c.3258del:p.Val1088fs	coding	Pathogenic
17	43092273	TA	T	A43092275T	BRCA1	NM_007294.4(BRCA1):c.3257del:p.Arg1085_Leu1086insTer	coding	Pathogenic
17	43092273	T	TA	T43092276A	BRCA1	NM_007294.3(BRCA1):c.3257dupT:p.Leu1086Phefs	coding	Pathogenic
17	43092273	T	TTC	A43092274T	BRCA1	NM_007294.4(BRCA1):c.3257_3258insGA:p.Gly1087fs	coding	Pathogenic
17	43092274	A	ATC	A43092275T	BRCA1	NM_007294.4(BRCA1):c.3256_3257insGA:p.Leu1086Ter	coding	Pathogenic
17	43092275	A	AT	C43092277T	BRCA1	NM_007294.3(BRCA1):c.3255dupA:p.Leu1086Ilefs	coding	Pathogenic
17	43092275	A	ATC	A43092279C	BRCA1	NM_007294.4(BRCA1):c.3254_3255dup:p.Leu1086fs	coding	Pathogenic
17	43092275	AT	A	T43092276C	BRCA1	NM_007294.4(BRCA1):c.3255del:p.Arg1085fs	coding	Pathogenic
17	43092276	T	TTC	C43092277T	BRCA1	NM_007294.4(BRCA1):c.3254_3255insGA:p.Leu1086fs	coding	Pathogenic
17	43092277	C	CT	A43092279T	BRCA1	NM_007294.3(BRCA1):c.3253dupA:p.Arg1085Lysfs	coding	Pathogenic
17	43092279	AAGCAT	A	A43092285T	BRCA1	NM_007294.4(BRCA1):c.3242_3246ATGCT[1]:p.Ala1082_Met1083insTer	coding	Pathogenic
17	43092292	AATTTTGGC	A	A43092293C	BRCA1	NM_007294.4(BRCA1):c.3231_3238del:p.Pro1078fs	coding	Pathogenic
17	43092301	CCT	C	C43092304G	BRCA1	NM_007294.4(BRCA1):c.3226_3227AG[1]:p.Gly1077fs	coding	Pathogenic
17	43092301	CCTCT	C	C43092302G	BRCA1	NM_007294.4(BRCA1):c.3226_3229del:p.Arg1076fs	coding	Pathogenic
17	43092304	CT	C	T43092305G	BRCA1	NM_007294.4(BRCA1):c.3226del:p.Arg1076fs	coding	Pathogenic
17	43092306	G	GT	C43092310T	BRCA1	NM_007294.4(BRCA1):c.3224dup:p.Asn1075fs	coding	Pathogenic
17	43092312	ACC	A	C43092313T	BRCA1	NM_007294.4(BRCA1):c.3217_3218del:p.Leu1072_Gly1073insTer	coding	Pathogenic
17	43092316	AG	A	G43092317T	BRCA1	NM_007294.4(BRCA1):c.3214del:p.Glu1071_Leu1072insTer	coding	Pathogenic
17	43092318	T	TTC	G43092322C	BRCA1	NM_007294.4(BRCA1):c.3211_3212dup:p.Leu1072fs	coding	Pathogenic
17	43092319	T	TC	T43092321C	BRCA1	NM_007294.4(BRCA1):c.3211dup:p.Glu1071fs	coding	Pathogenic
17	43092320	C	CT	G43092322T	BRCA1	NM_007294.4(BRCA1):c.3210dup:p.Glu1071fs	coding	Pathogenic
17	43092322	G	GCTTGAATGTTTTCATCACTGGAACCTATTTCATTAATACTGGAGCCCACTTCATTAGTA	G43092384T	BRCA1	NM_007294.4(BRCA1):c.3150_3208dup:p.Ala1070delinsValLeuMetLysTrpAlaProValLeuMetLysTer	coding	Pathogenic
17	43092324	TTGAA	T	A43092327T	BRCA1	NM_007294.4(BRCA1):c.3203_3206del:p.Ile1068fs	coding	Pathogenic
17	43092325	TG	T	G43092326A	BRCA1	NM_007294.4(BRCA1):c.3205del:p.Gln1069fs	coding	Pathogenic
17	43092326	GA	G	A43092328T	BRCA1	NM_007294.4(BRCA1):c.3204del:p.Gln1069fs	coding	Pathogenic
17	43092334	T	TC	A43092336C	BRCA1	NM_007294.4(BRCA1):c.3196dup:p.Glu1066fs	coding	Pathogenic
17	43092336	A	AC	T43092337C	BRCA1	NM_007294.4(BRCA1):c.3194_3195insG:p.Asp1065fs	coding	Pathogenic
17	43092337	T	TC	A43092339C	BRCA1	NM_007294.4(BRCA1):c.3193dup:p.Asp1065fs	coding	Pathogenic
17	43092342	GG	C	G43092342C	BRCA1	NM_007294.4(BRCA1):c.3188_3189delinsG:p.Gly1062_Ser1063insTer	coding	Pathogenic
17	43092347	CT	C	T43092348A	BRCA1	NM_007294.4(BRCA1):c.3183del:p.Ile1061fs	coding	Pathogenic
17	43092348	TA	T	A43092349T	BRCA1	NM_007294.4(BRCA1):c.3182del:p.Ile1061fs	coding	Pathogenic
17	43092349	AT	A	T43092352C	BRCA1	NM_007294.4(BRCA1):c.3181del:p.Glu1060_Ile1061insTer	coding	Pathogenic
17	43092356	TA	T	A43092358T	BRCA1	NM_007294.4(BRCA1):c.3174del:p.Asn1059fs	coding	Pathogenic
17	43092358	ATACT	A	T43092359G	BRCA1	NM_007294.4(BRCA1):c.3169_3172del:p.Ser1057fs	coding	Pathogenic
17	43092362	TG	T	G43092364A	BRCA1	NM_007294.4(BRCA1):c.3168del:p.Ser1057fs	coding	Pathogenic
17	43092366	GC	G	C43092369A	BRCA1	NM_007294.4(BRCA1):c.3164del:p.Gly1055fs	coding	Pathogenic
17	43092366	G	GCCCA	T43092372C	BRCA1	NM_007294.4(BRCA1):c.3161_3164dup:p.Ser1056fs	coding	Pathogenic
17	43092372	T	TC	T43092373C	BRCA1	NM_007294.4(BRCA1):c.3158_3159insG:p.Val1054fs	coding	Pathogenic
17	43092373	TC	T	C43092374A	BRCA1	NM_007294.4(BRCA1):c.3157del:p.Glu1053fs	coding	Pathogenic
17	43092373	T	TC	A43092375C	BRCA1	NM_007294.4(BRCA1):c.3157dup:p.Glu1053fs	coding	Pathogenic
17	43092375	AT	A	T43092377A	BRCA1	NM_007294.4(BRCA1):c.3155del:p.Asn1052fs	coding	Pathogenic
17	43092385	GA	G	A43092387C	BRCA1	NM_007294.4(BRCA1):c.3145del:p.Ser1049fs	coding	Pathogenic
17	43092387	AC	A	C43092389T	BRCA1	NM_007294.4(BRCA1):c.3143del:p.Gly1048fs	coding	Pathogenic
17	43092389	CTACT	C	A43092391C	BRCA1	NM_007294.4(BRCA1):c.3138_3141del:p.Gly1048fs	coding	Pathogenic
17	43092392	CTTCA	C	C43092395A	BRCA1	NM_007294.4(BRCA1):c.3135_3138del:p.Asn1045fs	coding	Pathogenic
17	43092392	CTTCATTAATA	C	C43092395G	BRCA1	NM_007294.4(BRCA1):c.3129_3138del:p.Asn1043fs	coding	Pathogenic
17	43092396	ATTAATATTGC	A	A43092399G	BRCA1	NM_007294.4(BRCA1):c.3125_3134del:p.Ser1042fs	coding	Pathogenic
17	43092398	TA	T	A43092400T	BRCA1	NM_007294.4(BRCA1):c.3132del:p.Asn1045fs	coding	Pathogenic
17	43092410	AGCTG	A	G43092414T	BRCA1	NM_007294.4(BRCA1):c.3117_3120del:p.Ser1040fs	coding	Pathogenic
17	43092413	TG	T	G43092415C	BRCA1	NM_007294.4(BRCA1):c.3117del:p.Ser1040fs	coding	Pathogenic
17	43092414	GGCT	TC	G43092414T	BRCA1	NM_007294.4(BRCA1):c.3114_3117delinsGA:p.Ala1039fs	coding	Pathogenic
17	43092415	GC	G	C43092416T	BRCA1	NM_007294.4(BRCA1):c.3115del:p.Ala1039fs	coding	Pathogenic
17	43092416	CTT	C	T43092417C	BRCA1	NM_007294.4(BRCA1):c.3113_3114del:p.Glu1038fs	coding	Pathogenic
17	43092416	CTT	TC	C43092416T	BRCA1	NM_007294.4(BRCA1):c.3113_3115delinsGA:p.Glu1038fs	coding	Pathogenic
17	43092418	TCTTTAA	T	C43092419A	BRCA1	NM_007294.4(BRCA1):c.3107_3112del:p.Phe1036_Glu1038delinsTer	coding	Pathogenic
17	43092420	T	TA	T43092421A	BRCA1	NM_007294.4(BRCA1):c.3110_3111insT:p.Lys1037fs	coding	Pathogenic
17	43092421	TTAAA	T	T43092422A	BRCA1	NM_007294.4(BRCA1):c.3106_3109del:p.Phe1036fs	coding	Pathogenic
17	43092421	T	TA	T43092422A	BRCA1	NM_007294.4(BRCA1):c.3109_3110insT:p.Lys1037fs	coding	Pathogenic
17	43092422	TA	T	A43092427C	BRCA1	NM_007294.4(BRCA1):c.3108del:p.Phe1036fs	coding	Pathogenic
17	43092422	T	TA	C43092428A	BRCA1	NM_007294.4(BRCA1):c.3108dup:p.Lys1037Ter	coding	Pathogenic
17	43092426	AAC	A	C43092428T	BRCA1	NM_007294.4(BRCA1):c.3103_3104del:p.Val1035fs	coding	Pathogenic
17	43092430	T	TTTTCTCTAATGTTA	A43092447T	BRCA1	NM_007294.4(BRCA1):c.3087_3100dup:p.Asn1034fs	coding	Pathogenic
17	43092434	CT	C	T43092435C	BRCA1	NM_007294.4(BRCA1):c.3096del:p.Glu1033fs	coding	Pathogenic
17	43092436	CTAATGTTATTA	C	T43092437C	BRCA1	NM_007294.4(BRCA1):c.3084_3094del:p.Asn1029fs	coding	Pathogenic
17	43092439	A	AT	G43092441T	BRCA1	NM_007294.4(BRCA1):c.3091dup:p.Ile1031fs	coding	Pathogenic
17	43092447	AC	A	C43092448G	BRCA1	NM_007294.4(BRCA1):c.3083del:p.Arg1028fs	coding	Pathogenic
17	43092454	A	ATGTGCTCACTGTACTTGGAATGATCTCATTTCCCATTTCTCTTTCAGGTGACATTGAATGTTCCTCAAAGTTTTCC	T43092456G	BRCA1	NM_007294.4(BRCA1):c.3076_3077insGGAAAACTTTGAGGAACATTCAATGTCACCTGAAAGAGAAATGGGAAATGAGATCATTCCAAGTACAGTGAGCACA:p.Ile1026delinsArgLysThrLeuArgAsnIleGlnCysHisLeuLysGluLysTrpGluMetArgSerPheGlnValGlnTer	coding	Pathogenic
17	43092455	T	TTGTGCTCACTGTACTTGGAATGATCTCATTTCCCATTTCTCTTTCAGGTGACATTGAATGTTCCTCAAAGTTTTCC	T43092478A	BRCA1	NM_007294.4(BRCA1):c.3075_3076insGGAAAACTTTGAGGAACATTCAATGTCACCTGAAAGAGAAATGGGAAATGAGATCATTCCAAGTACAGTGAGCACA:p.Ile1026delinsGlyLysLeuTer	coding	Pathogenic
17	43092462	CA	C	A43092463C	BRCA1	NM_007294.4(BRCA1):c.3068del:p.Val1023fs	coding	Pathogenic
17	43092464	CT	C	T43092465G	BRCA1	NM_007294.4(BRCA1):c.3066del:p.Thr1022_Val1023insTer	coding	Pathogenic
17	43092466	G	GT	A43092468T	BRCA1	NM_007294.4(BRCA1):c.3064dup:p.Thr1022fs	coding	Pathogenic
17	43092468	AC	A	C43092469T	BRCA1	NM_007294.4(BRCA1):c.3062del:p.Ser1021fs	coding	Pathogenic
17	43092471	TGGAA	T	G43092472T	BRCA1	NM_007294.4(BRCA1):c.3056_3059del:p.Ile1019fs	coding	Pathogenic
17	43092471	TG	T	G43092473A	BRCA1	NM_007294.4(BRCA1):c.3059del:p.Pro1020fs	coding	Pathogenic
17	43092476	T	TTCTCA	G43092477T	BRCA1	NM_007294.4(BRCA1):c.3054_3055insTGAGA:p.Ile1019Ter	coding	Pathogenic
17	43092477	G	GTCTCA	T43092479C	BRCA1	NM_007294.4(BRCA1):c.3053_3054insTGAGA:p.Ile1019fs	coding	Pathogenic
17	43092478	T	TTCTCA	T43092485C	BRCA1	NM_007294.3(BRCA1):c.3048_3052dupTGAGA:p.Asn1018Metfs	coding	Pathogenic
17	43092486	T	TC	A43092490C	BRCA1	NM_007294.4(BRCA1):c.3044dup:p.Asn1016fs	coding	Pathogenic
17	43092492	TTC	T	C43092496T	BRCA1	NM_007294.4(BRCA1):c.3035_3036GA[1]:p.Glu1013fs	coding	Pathogenic
17	43092496	CTT	C	T43092498C	BRCA1	NM_007294.4(BRCA1):c.3033_3034del:p.Glu1013fs	coding	Pathogenic
17	43092500	CAG	C	A43092501G	BRCA1	NM_007294.4(BRCA1):c.3029_3030del:p.Pro1010fs	coding	Pathogenic
17	43092506	A	AC	A43092508C	BRCA1	NM_007294.4(BRCA1):c.3024dup:p.Ser1009fs	coding	Pathogenic
17	43092507	CATTG	C	T43092509A	BRCA1	NM_007294.4(BRCA1):c.3020_3023del:p.Ser1007fs	coding	Pathogenic
17	43092509	TTGAA	T	A43092512T	BRCA1	NM_007294.4(BRCA1):c.3018_3021del:p.His1006fs	coding	Pathogenic
17	43092510	TGAATG	T	G43092511T	BRCA1	NM_007294.4(BRCA1):c.3016_3020del:p.His1006fs	coding	Pathogenic
17	43092515	G	GT	C43092518T	BRCA1	NM_007294.4(BRCA1):c.3015dup:p.His1006fs	coding	Pathogenic
17	43092515	GT	G	T43092517C	BRCA1	NM_007294.4(BRCA1):c.3015del:p.Glu1005fs	coding	Pathogenic
17	43092517	TC	T	C43092519T	BRCA1	NM_007294.4(BRCA1):c.3013del:p.Glu1005fs	coding	Pathogenic
17	43092518	CCT	C	T43092520A	BRCA1	NM_007294.4(BRCA1):c.3011_3012del:p.Glu1004fs	coding	Pathogenic
17	43092521	CAAAG	C	A43092522T	BRCA1	NM_007294.4(BRCA1):c.3006_3009del:p.Asn1002fs	coding	Pathogenic
17	43092521	CAA	C	A43092523G	BRCA1	NM_007294.4(BRCA1):c.3008_3009del:p.Asn1002_Phe1003insTer	coding	Pathogenic
17	43092525	GT	G	T43092529C	BRCA1	NM_007294.3(BRCA1):c.3005delA:p.Asn1002Thrfs	coding	Pathogenic
17	43092531	CT	C	T43092532C	BRCA1	NM_007294.4(BRCA1):c.2999del:p.Glu1000fs	coding	Pathogenic
17	43092535	AG	TA	A43092535T	BRCA1	NM_007294.4(BRCA1):c.2995_2996delinsTA:p.Leu999Ter	coding	Pathogenic
17	43092540	A	ATT	C43092546T	BRCA1	NM_007294.4(BRCA1):c.2989_2990dup:p.Asn997fs	coding	Pathogenic
17	43092540	AT	A	T43092545C	BRCA1	NM_007294.4(BRCA1):c.2990del:p.Asn997fs	coding	Pathogenic
17	43092540	ATTTTTCTTACATTTAGT	A	T43092544A	BRCA1	NM_007294.4(BRCA1):c.2974_2990del:p.Thr992fs	coding	Pathogenic
17	43092546	CT	C	T43092548A	BRCA1	NM_007294.4(BRCA1):c.2984del:p.Lys995fs	coding	Pathogenic
17	43092548	TAC	T	C43092550T	BRCA1	NM_007294.4(BRCA1):c.2981_2982del:p.Lys993_Cys994insTer	coding	Pathogenic
17	43092549	AC	A	C43092550A	BRCA1	NM_007294.4(BRCA1):c.2981del:p.Cys994fs	coding	Pathogenic
17	43092550	CA	C	A43092551T	BRCA1	NM_007294.4(BRCA1):c.2980del:p.Cys994fs	coding	Pathogenic
17	43092551	ATTTAGTT	A	T43092554A	BRCA1	NM_007294.4(BRCA1):c.2973_2979del:p.Lys991fs	coding	Pathogenic
17	43092556	GT	G	T43092560A	BRCA1	NM_007294.4(BRCA1):c.2974del:p.Thr992fs	coding	Pathogenic
17	43092560	TA	T	A43092562C	BRCA1	NM_007294.4(BRCA1):c.2970del:p.Thr992fs	coding	Pathogenic
17	43092563	CA	C	A43092566T	BRCA1	NM_007294.4(BRCA1):c.2967del:p.Phe989fs	coding	Pathogenic
17	43092566	ATGACT	A	C43092570T	BRCA1	NM_007294.4(BRCA1):c.2960_2964del:p.Lys987fs	coding	Pathogenic
17	43092570	C	CT	G43092573T	BRCA1	NM_007294.4(BRCA1):c.2960dup:p.Ser988fs	coding	Pathogenic
17	43092575	TG	T	G43092578A	BRCA1	NM_007294.4(BRCA1):c.2955del:p.Ile986fs	coding	Pathogenic
17	43092578	GAA	G	A43092582G	BRCA1	NM_007294.4(BRCA1):c.2951_2952del:p.Phe984fs	coding	Pathogenic
17	43092578	GA	G	A43092583G	BRCA1	NM_007294.4(BRCA1):c.2952del:p.Ile986fs	coding	Pathogenic
17	43092578	G	GA	G43092584A	BRCA1	NM_007294.4(BRCA1):c.2952dup:p.Pro985fs	coding	Pathogenic
17	43092583	AG	A	G43092584T	BRCA1	NM_007294.4(BRCA1):c.2947del:p.Leu983fs	coding	Pathogenic
17	43092585	TG	T	G43092587T	BRCA1	NM_007294.4(BRCA1):c.2945del:p.Pro982fs	coding	Pathogenic
17	43092590	GT	G	T43092591A	BRCA1	NM_007294.4(BRCA1):c.2940del:p.Pro981fs	coding	Pathogenic
17	43092592	AT	A	T43092593A	BRCA1	NM_007294.4(BRCA1):c.2938del:p.Ile980fs	coding	Pathogenic
17	43092596	GA	G	A43092597T	BRCA1	NM_007294.4(BRCA1):c.2934del:p.Arg979fs	coding	Pathogenic
17	43092597	A	AT	A43092599T	BRCA1	NM_007294.4(BRCA1):c.2933dup:p.Tyr978Ter	coding	Pathogenic
17	43092600	T	TGG	T43092604G	BRCA1	NM_007294.4(BRCA1):c.2929_2930dup:p.Tyr978fs	coding	Pathogenic
17	43092603	GT	G	T43092607G	BRCA1	NM_007294.4(BRCA1):c.2927del:p.Asn976fs	coding	Pathogenic
17	43092609	TAA	T	A43092612G	BRCA1	NM_007294.4(BRCA1):c.2920_2921del:p.Leu974fs	coding	Pathogenic
17	43092609	TA	T	A43092613G	BRCA1	NM_007294.4(BRCA1):c.2921del:p.Leu974fs	coding	Pathogenic
17	43092609	T	TA	G43092614A	BRCA1	NM_007294.4(BRCA1):c.2921dup:p.Leu974fs	coding	Pathogenic
17	43092610	AAAAG	A	A43092611T	BRCA1	NM_007294.4(BRCA1):c.2917_2920del:p.Leu973fs	coding	Pathogenic
17	43092615	TC	T	C43092617A	BRCA1	NM_007294.4(BRCA1):c.2915del:p.Gly972fs	coding	Pathogenic
17	43092617	CAT	C	A43092618G	BRCA1	NM_007294.4(BRCA1):c.2912_2913del:p.His971fs	coding	Pathogenic
17	43092620	GT	G	T43092623A	BRCA1	NM_007294.4(BRCA1):c.2910del:p.Lys970fs	coding	Pathogenic
17	43092623	TA	T	A43092624T	BRCA1	NM_007294.4(BRCA1):c.2907del:p.Asn969fs	coding	Pathogenic
17	43092623	TAT	AG	T43092623A	BRCA1	NM_007294.4(BRCA1):c.2906_2908delinsCT:p.Asn969fs	coding	Pathogenic
17	43092624	AT	A	T43092627G	BRCA1	NM_007294.4(BRCA1):c.2906del:p.Asn969fs	coding	Pathogenic
17	43092626	T	TGA	T43092627G	BRCA1	NM_007294.4(BRCA1):c.2904_2905insTC:p.Asn969fs	coding	Pathogenic
17	43092627	T	TG	A43092630G	BRCA1	NM_007294.4(BRCA1):c.2903dup:p.Asn969fs	coding	Pathogenic
17	43092627	T	TGA	G43092629A	BRCA1	NM_007294.4(BRCA1):c.2903_2904insTC:p.Asn969fs	coding	Pathogenic
17	43092628	G	GGA	T43092632A	BRCA1	NM_007294.4(BRCA1):c.2901_2902dup:p.Pro968fs	coding	Pathogenic
17	43092632	TA	T	A43092634T	BRCA1	NM_007294.4(BRCA1):c.2898del:p.Thr967fs	coding	Pathogenic
17	43092640	CCA	C	C43092641G	BRCA1	NM_007294.4(BRCA1):c.2889_2890del:p.Gly964fs	coding	Pathogenic
17	43092643	GT	G	T43092646C	BRCA1	NM_007294.4(BRCA1):c.2887del:p.Thr963fs	coding	Pathogenic
17	43092648	GT	G	T43092650G	BRCA1	NM_007294.4(BRCA1):c.2882del:p.Asn961fs	coding	Pathogenic
17	43092651	GCC	G	C43092652T	BRCA1	NM_007294.4(BRCA1):c.2878_2879del:p.Gly960fs	coding	Pathogenic
17	43092654	TCTGAA	T	A43092659G	BRCA1	NM_007294.4(BRCA1):c.2872_2876del:p.Phe958fs	coding	Pathogenic
17	43092655	CT	C	T43092656G	BRCA1	NM_007294.4(BRCA1):c.2875del:p.Arg959fs	coding	Pathogenic
17	43092658	A	AT	A43092659T	BRCA1	NM_007294.4(BRCA1):c.2872_2873insA:p.Phe958fs	coding	Pathogenic
17	43092659	A	AT	C43092660T	BRCA1	NM_007294.4(BRCA1):c.2871_2872insA:p.Phe958fs	coding	Pathogenic
17	43092660	C	CT	G43092662T	BRCA1	NM_007294.4(BRCA1):c.2870dup:p.Phe958fs	coding	Pathogenic
17	43092660	CTGAGA	C	G43092664T	BRCA1	NM_007294.4(BRCA1):c.2866_2870del:p.Ser956fs	coding	Pathogenic
17	43092662	GA	G	A43092663G	BRCA1	NM_007294.4(BRCA1):c.2868del:p.Gln957fs	coding	Pathogenic
17	43092663	AG	A	G43092664A	BRCA1	NM_007294.4(BRCA1):c.2867del:p.Ser956fs	coding	Pathogenic
17	43092664	G	GA	T43092666A	BRCA1	NM_007294.4(BRCA1):c.2866dup:p.Ser956fs	coding	Pathogenic
17	43092665	AT	A	T43092666G	BRCA1	NM_007294.4(BRCA1):c.2865del:p.Ser956fs	coding	Pathogenic
17	43092666	TGATAG	T	G43092667A	BRCA1	NM_007294.4(BRCA1):c.2860_2864del:p.Leu954fs	coding	Pathogenic
17	43092666	TGATA	T	T43092669C	BRCA1	NM_007294.4(BRCA1):c.2861_2864del:p.Leu954fs	coding	Pathogenic
17	43092666	T	TA	G43092667A	BRCA1	NM_007294.4(BRCA1):c.2864_2865insT:p.Ser956fs	coding	Pathogenic
17	43092669	TA	T	A43092670G	BRCA1	NM_007294.4(BRCA1):c.2861del:p.Leu954fs	coding	Pathogenic
17	43092669	T	TA	G43092671A	BRCA1	NM_007294.4(BRCA1):c.2861dup:p.Ser955fs	coding	Pathogenic
17	43092673	CAA	C	A43092676C	BRCA1	NM_007294.4(BRCA1):c.2856_2857del:p.Phe952fs	coding	Pathogenic
17	43092677	ACCTAGAGCCT	A	A43092681T	BRCA1	NM_007294.4(BRCA1):c.2844_2853del:p.Gly949fs	coding	Pathogenic
17	43092679	C	CG	T43092680G	BRCA1	NM_007294.4(BRCA1):c.2851_2852insC:p.Arg951fs	coding	Pathogenic
17	43092680	T	TA	G43092682A	BRCA1	NM_007294.4(BRCA1):c.2850dup:p.Arg951Ter	coding	Pathogenic
17	43092680	T	TG	A43092681G	BRCA1	NM_007294.4(BRCA1):c.2850_2851insC:p.Arg951fs	coding	Pathogenic
17	43092682	G	GA	G43092684A	BRCA1	NM_007294.4(BRCA1):c.2848dup:p.Ser950fs	coding	Pathogenic
17	43092687	TC	T	C43092689T	BRCA1	NM_007294.4(BRCA1):c.2843del:p.Gly948fs	coding	Pathogenic
17	43092689	CTT	C	T43092691G	BRCA1	NM_007294.4(BRCA1):c.2840_2841del:p.Lys947fs	coding	Pathogenic
17	43092693	GAT	G	T43092695C	BRCA1	NM_007294.4(BRCA1):c.2836_2837del:p.Ile946fs	coding	Pathogenic
17	43092695	TAC	G	T43092695G	BRCA1	NM_007294.4(BRCA1):c.2834_2836delinsC:p.Ser945fs	coding	Pathogenic
17	43092695	TAC	T	A43092696T	BRCA1	NM_007294.4(BRCA1):c.2834_2835del:p.Ser945fs	coding	Pathogenic
17	43092695	T	TA	C43092697A	BRCA1	NM_007294.3(BRCA1):c.2835dupT:p.Ile946Tyrfs	coding	Pathogenic
17	43092695	T	TGG	A43092696G	BRCA1	NM_007294.4(BRCA1):c.2835_2836insCC:p.Ile946fs	coding	Pathogenic
17	43092700	CA	C	A43092701T	BRCA1	NM_007294.4(BRCA1):c.2830del:p.Cys944fs	coding	Pathogenic
17	43092701	ATTTGGCATTA	TTATCAAACTGGCTTATCTT	A43092701T	BRCA1	NM_007294.4(BRCA1):c.2820_2830delinsAAGATAAGCCAGTTTGATAA:p.Asp940_Cys944delinsGluArgTer	coding	Pathogenic
17	43092703	TTGGCATTATCAAC	T	A43092708T	BRCA1	NM_007294.4(BRCA1):c.2815_2827del:p.Val939fs	coding	Pathogenic
17	43092707	CA	C	A43092708T	BRCA1	NM_007294.4(BRCA1):c.2823del:p.Asn941fs	coding	Pathogenic
17	43092716	CT	C	T43092717G	BRCA1	NM_007294.4(BRCA1):c.2814del:p.Val939fs	coding	Pathogenic
17	43092717	TGG	T	G43092718C	BRCA1	NM_007294.4(BRCA1):c.2812_2813del:p.Pro938fs	coding	Pathogenic
17	43092718	GG	C	G43092718C	BRCA1	NM_007294.4(BRCA1):c.2812_2813delinsG:p.Pro938fs	coding	Pathogenic
17	43092719	GCTTA	G	C43092720T	BRCA1	NM_007294.4(BRCA1):c.2808_2811del:p.Lys937fs	coding	Pathogenic
17	43092721	TTATC	T	A43092723T	BRCA1	NM_007294.4(BRCA1):c.2806_2809del:p.Asp936fs	coding	Pathogenic
17	43092723	ATC	A	C43092725T	BRCA1	NM_007294.4(BRCA1):c.2806_2807del:p.Lys935_Asp936insTer	coding	Pathogenic
17	43092725	C	CT	C43092729T	BRCA1	NM_007294.4(BRCA1):c.2805dup:p.Asp936fs	coding	Pathogenic
17	43092725	CT	C	T43092728C	BRCA1	NM_007294.4(BRCA1):c.2805del:p.Asp936fs	coding	Pathogenic
17	43092728	TC	T	C43092729T	BRCA1	NM_007294.4(BRCA1):c.2802del:p.Asp936fs	coding	Pathogenic
17	43092731	GACCA	G	A43092736C	BRCA1	NM_007294.4(BRCA1):c.2792_2795TGGT[1]:p.Gly933fs	coding	Pathogenic
17	43092731	GAC	G	A43092732C	BRCA1	NM_007294.4(BRCA1):c.2798_2799del:p.Gly933fs	coding	Pathogenic
17	43092731	GA	G	A43092732C	BRCA1	NM_007294.4(BRCA1):c.2799del:p.Gln934fs	coding	Pathogenic
17	43092734	CA	C	A43092736C	BRCA1	NM_007294.4(BRCA1):c.2796del:p.Gly933fs	coding	Pathogenic
17	43092742	G	GAAAGCCTGCAGTGATAA	G43092743A	BRCA1	NM_007294.4(BRCA1):c.2788_2789insTTATCACTGCAGGCTTT:p.Pro930fs	coding	Pathogenic
17	43092743	G	GAAAGCCTGCAGTGATAA	T43092760A	BRCA1	NM_007294.4(BRCA1):c.2787_2788insTTATCACTGCAGGCTTT:p.Pro930fs	coding	Pathogenic
17	43092747	GC	G	C43092749T	BRCA1	NM_007294.4(BRCA1):c.2783del:p.Gly928fs	coding	Pathogenic
17	43092752	C	CA	G43092754A	BRCA1	NM_007294.4(BRCA1):c.2778dup:p.Ala927fs	coding	Pathogenic
17	43092752	C	CAT	G43092754T	BRCA1	NM_007294.4(BRCA1):c.2778_2779insAT:p.Ala927fs	coding	Pathogenic
17	43092753	AGT	A	T43092755A	BRCA1	NM_007294.4(BRCA1):c.2776_2777del:p.Thr926fs	coding	Pathogenic
17	43092754	G	GTA	G43092756A	BRCA1	NM_007294.4(BRCA1):c.2776_2777insTA:p.Thr926fs	coding	Pathogenic
17	43092756	GA	G	A43092757T	BRCA1	NM_007294.4(BRCA1):c.2774del:p.Ile925fs	coding	Pathogenic
17	43092760	TTAAC	T	A43092762G	BRCA1	NM_007294.4(BRCA1):c.2767_2770del:p.Val923fs	coding	Pathogenic
17	43092763	ACTGT	A	C43092768A	BRCA1	NM_007294.4(BRCA1):c.2760_2763ACAG[1]:p.Thr922fs	coding	Pathogenic
17	43092764	CT	C	T43092765G	BRCA1	NM_007294.4(BRCA1):c.2766del:p.Val923fs	coding	Pathogenic
17	43092768	CT	C	T43092769G	BRCA1	NM_007294.4(BRCA1):c.2762del:p.Gln921fs	coding	Pathogenic
17	43092770	GT	G	T43092771A	BRCA1	NM_007294.4(BRCA1):c.2760del:p.Gln921fs	coding	Pathogenic
17	43092775	G	GCACCC	G43092776C	BRCA1	NM_007294.4(BRCA1):c.2755_2756insGGGTG:p.Pro919fs	coding	Pathogenic
17	43092776	GCT	TG	G43092776T	BRCA1	NM_007294.4(BRCA1):c.2753_2755delinsCA:p.Lys918fs	coding	Pathogenic
17	43092776	G	GCACCC	T43092778A	BRCA1	NM_007294.4(BRCA1):c.2754_2755insGGGTG:p.Pro919fs	coding	Pathogenic
17	43092779	TG	T	G43092780A	BRCA1	NM_007294.4(BRCA1):c.2751del:p.Lys918fs	coding	Pathogenic
17	43092780	GA	G	A43092781T	BRCA1	NM_007294.4(BRCA1):c.2750del:p.Ile917fs	coding	Pathogenic
17	43092780	GATATTAGACTC	G	A43092783T	BRCA1	NM_007294.4(BRCA1):c.2740_2750del:p.Glu914fs	coding	Pathogenic
17	43092781	A	AT	A43092783T	BRCA1	NM_007294.3(BRCA1):c.2749dupA:p.Ile917Asnfs	coding	Pathogenic
17	43092782	TA	T	A43092783T	BRCA1	NM_007294.4(BRCA1):c.2748del:p.Asn916fs	coding	Pathogenic
17	43092785	TAG	T	G43092787C	BRCA1	NM_007294.4(BRCA1):c.2744_2745del:p.Glu914_Ser915insTer	coding	Pathogenic
17	43092785	T	TA	G43092787A	BRCA1	NM_007294.4(BRCA1):c.2745dup:p.Asn916Ter	coding	Pathogenic
17	43092800	CTTGA	C	G43092803T	BRCA1	NM_007294.4(BRCA1):c.2727_2730del:p.Asn909fs	coding	Pathogenic
17	43092800	CTTGAT	C	G43092803T	BRCA1	NM_007294.4(BRCA1):c.2726_2730del:p.Asn909fs	coding	Pathogenic
17	43092802	TG	T	G43092803A	BRCA1	NM_007294.4(BRCA1):c.2728del:p.Gln910fs	coding	Pathogenic
17	43092804	A	AT	C43092809T	BRCA1	NM_007294.3(BRCA1):c.2726dupA:p.Asn909Lysfs	coding	Pathogenic
17	43092804	AT	A	T43092808C	BRCA1	NM_007294.4(BRCA1):c.2726del:p.Asn909fs	coding	Pathogenic
17	43092808	TCTTC	T	C43092812T	BRCA1	NM_007294.4(BRCA1):c.2719_2722del:p.Glu907fs	coding	Pathogenic
17	43092811	TC	T	C43092813T	BRCA1	NM_007294.4(BRCA1):c.2719del:p.Glu907fs	coding	Pathogenic
17	43092813	CT	C	T43092817G	BRCA1	NM_007294.4(BRCA1):c.2717del:p.Lys906fs	coding	Pathogenic
17	43092820	TCA	T	C43092823T	BRCA1	NM_007294.4(BRCA1):c.2707_2708TG[1]:p.Cys903_Glu904delinsTer	coding	Pathogenic
17	43092820	TC	T	C43092821A	BRCA1	NM_007294.4(BRCA1):c.2710del:p.Glu904fs	coding	Pathogenic
17	43092821	CA	C	A43092822C	BRCA1	NM_007294.4(BRCA1):c.2709del:p.Cys903fs	coding	Pathogenic
17	43092823	CA	C	A43092824T	BRCA1	NM_007294.4(BRCA1):c.2707del:p.Cys903fs	coding	Pathogenic
17	43092823	C	CAT	T43092826A	BRCA1	NM_007294.4(BRCA1):c.2706_2707dup:p.Cys903fs	coding	Pathogenic
17	43092824	AT	A	T43092826C	BRCA1	NM_007294.4(BRCA1):c.2706del:p.Glu902fs	coding	Pathogenic
17	43092826	TC	T	C43092827A	BRCA1	NM_007294.4(BRCA1):c.2704del:p.Glu902fs	coding	Pathogenic
17	43092827	CAA	C	A43092830G	BRCA1	NM_007294.4(BRCA1):c.2702_2703del:p.Thr900_Phe901insTer	coding	Pathogenic
17	43092835	AC	A	C43092836T	BRCA1	NM_007294.4(BRCA1):c.2695del:p.Val899fs	coding	Pathogenic
17	43092836	C	CT	G43092841T	BRCA1	NM_007294.4(BRCA1):c.2694dup:p.Val899fs	coding	Pathogenic
17	43092836	C	CTT	G43092841T	BRCA1	NM_007294.4(BRCA1):c.2693_2694dup:p.Val899fs	coding	Pathogenic
17	43092836	CT	C	T43092840G	BRCA1	NM_007294.4(BRCA1):c.2694del:p.Val899fs	coding	Pathogenic
17	43092837	TTTTGGAC	T	G43092842T	BRCA1	NM_007294.4(BRCA1):c.2687_2693del:p.Ser896fs	coding	Pathogenic
17	43092837	TTTTGGACTTTG	T	G43092841C	BRCA1	NM_007294.4(BRCA1):c.2683_2693del:p.Gln895fs	coding	Pathogenic
17	43092839	T	TTG	G43092842T	BRCA1	NM_007294.4(BRCA1):c.2690_2691dup:p.Lys898fs	coding	Pathogenic
17	43092841	G	GGT	A43092843T	BRCA1	NM_007294.4(BRCA1):c.2689_2690insAC:p.Pro897fs	coding	Pathogenic
17	43092842	G	GT	A43092843T	BRCA1	NM_007294.4(BRCA1):c.2688_2689insA:p.Pro897fs	coding	Pathogenic
17	43092843	A	AT	C43092844T	BRCA1	NM_007294.4(BRCA1):c.2687_2688insA:p.Ser896fs	coding	Pathogenic
17	43092843	ACTTTGTTT	A	G43092848A	BRCA1	NM_007294.4(BRCA1):c.2680_2687del:p.Lys894fs	coding	Pathogenic
17	43092844	C	CT	G43092848T	BRCA1	NM_007294.4(BRCA1):c.2686dup:p.Ser896fs	coding	Pathogenic
17	43092844	CT	C	T43092847G	BRCA1	NM_007294.4(BRCA1):c.2686del:p.Ser896fs	coding	Pathogenic
17	43092844	CTT	C	T43092846G	BRCA1	NM_007294.4(BRCA1):c.2685_2686del:p.Pro897fs	coding	Pathogenic
17	43092844	CTTTG	C	G43092848C	BRCA1	NM_007294.4(BRCA1):c.2683_2686del:p.Gln895fs	coding	Pathogenic
17	43092848	GT	G	T43092851C	BRCA1	NM_007294.4(BRCA1):c.2682del:p.Lys894fs	coding	Pathogenic
17	43092848	GTT	G	T43092850C	BRCA1	NM_007294.4(BRCA1):c.2681_2682del:p.Lys894fs	coding	Pathogenic
17	43092848	GTTTC	G	C43092852A	BRCA1	NM_007294.4(BRCA1):c.2679_2682del:p.Lys893fs	coding	Pathogenic
17	43092850	TTC	T	C43092852T	BRCA1	NM_007294.4(BRCA1):c.2679_2680del:p.Lys894fs	coding	Pathogenic
17	43092852	C	CT	A43092856T	BRCA1	NM_007294.4(BRCA1):c.2678dup:p.Lys894fs	coding	Pathogenic
17	43092852	CTTTA	C	T43092853A	BRCA1	NM_007294.4(BRCA1):c.2675_2678del:p.Ser891_Leu892insTer	coding	Pathogenic
17	43092859	GA	G	A43092860C	BRCA1	NM_007294.4(BRCA1):c.2671del:p.Ser891fs	coding	Pathogenic
17	43092860	AC	A	C43092863A	BRCA1	NM_007294.4(BRCA1):c.2670del:p.Ser891fs	coding	Pathogenic
17	43092864	A	AG	A43092866G	BRCA1	NM_007294.4(BRCA1):c.2666dup:p.Gly890fs	coding	Pathogenic
17	43092865	G	GA	G43092867A	BRCA1	NM_007294.4(BRCA1):c.2665dup:p.Ser889fs	coding	Pathogenic
17	43092870	G	GT	G43092871T	BRCA1	NM_007294.4(BRCA1):c.2660_2661insA:p.His888fs	coding	Pathogenic
17	43092871	G	GC	A43092873C	BRCA1	NM_007294.4(BRCA1):c.2659dup:p.Ala887fs	coding	Pathogenic
17	43092871	G	GT	C43092872T	BRCA1	NM_007294.4(BRCA1):c.2659_2660insA:p.Ala887fs	coding	Pathogenic
17	43092872	CAG	C	G43092876A	BRCA1	NM_007294.4(BRCA1):c.2655_2656CT[1]:p.Ser886fs	coding	Pathogenic
17	43092872	C	CT	A43092873T	BRCA1	NM_007294.4(BRCA1):c.2658_2659insA:p.Ala887fs	coding	Pathogenic
17	43092876	GA	G	A43092878T	BRCA1	NM_007294.4(BRCA1):c.2654del:p.Phe885fs	coding	Pathogenic
17	43092876	G	GA	T43092879A	BRCA1	NM_007294.4(BRCA1):c.2654dup:p.Ser886fs	coding	Pathogenic
17	43092878	A	AT	G43092880T	BRCA1	NM_007294.4(BRCA1):c.2652dup:p.Phe885fs	coding	Pathogenic
17	43092880	G	GTGCC	T43092882G	BRCA1	NM_007294.4(BRCA1):c.2650_2651insGGCA:p.Thr884fs	coding	Pathogenic
17	43092880	GTT	G	T43092881G	BRCA1	NM_007294.4(BRCA1):c.2649_2650del:p.Thr884fs	coding	Pathogenic
17	43092881	T	TAGCC	T43092882A	BRCA1	NM_007294.4(BRCA1):c.2649_2650insGGCT:p.Thr884fs	coding	Pathogenic
17	43092881	T	TTGCC	A43092885C	BRCA1	NM_007294.4(BRCA1):c.2649_2650insGGCA:p.Thr884fs	coding	Pathogenic
17	43092882	TGCA	T	G43092883C	BRCA1	NM_007294.4(BRCA1):c.2646_2648del:p.Cys882_Ala883delinsTer	coding	Pathogenic
17	43092882	T	TTGCC	G43092883T	BRCA1	NM_007294.4(BRCA1):c.2648_2649insGGCA:p.Thr884fs	coding	Pathogenic
17	43092883	G	GTGCC	C43092884T	BRCA1	NM_007294.4(BRCA1):c.2647_2648insGGCA:p.Ala883fs	coding	Pathogenic
17	43092887	A	AT	C43092890T	BRCA1	NM_007294.4(BRCA1):c.2643dup:p.Cys882fs	coding	Pathogenic
17	43092887	AT	A	T43092889C	BRCA1	NM_007294.4(BRCA1):c.2643del:p.Glu881fs	coding	Pathogenic
17	43092893	CT	C	T43092895C	BRCA1	NM_007294.4(BRCA1):c.2637del:p.Glu880fs	coding	Pathogenic
17	43092900	AT	A	T43092903C	BRCA1	NM_007294.4(BRCA1):c.2630del:p.Asn877fs	coding	Pathogenic
17	43092909	AT	A	T43092912G	BRCA1	NM_007294.4(BRCA1):c.2621del:p.Asn874fs	coding	Pathogenic
17	43092913	GA	G	A43092917C	BRCA1	NM_007294.4(BRCA1):c.2617del:p.Ser873fs	coding	Pathogenic
17	43092913	G	GA	C43092918A	BRCA1	NM_007294.3(BRCA1):c.2617dupT:p.Ser873Phefs	coding	Pathogenic
17	43092918	C	CA	G43092919A	BRCA1	NM_007294.4(BRCA1):c.2612_2613insT:p.Phe872fs	coding	Pathogenic
17	43092918	C	CG	A43092921G	BRCA1	NM_007294.4(BRCA1):c.2612dup:p.Phe872fs	coding	Pathogenic
17	43092918	CGG	C	G43092919A	BRCA1	NM_007294.4(BRCA1):c.2611_2612del:p.Pro871fs	coding	Pathogenic
17	43092919	G	AA	G43092919A	BRCA1	NM_007294.4(BRCA1):c.2612delinsTT:p.Pro871fs	coding	Pathogenic
17	43092926	A	ATGAC	G43092933A	BRCA1	NM_007294.4(BRCA1):c.2601_2604dup:p.Phe869fs	coding	Pathogenic
17	43092936	CT	C	T43092939G	BRCA1	NM_007294.4(BRCA1):c.2594del:p.Lys865fs	coding	Pathogenic
17	43092937	TTTGAA	AAAAGAAT	T43092937A	BRCA1	NM_007294.4(BRCA1):c.2589_2594delinsATTCTTTT:p.Ser864fs	coding	Pathogenic
17	43092937	TTTGAAACC	T	A43092943T	BRCA1	NM_007294.4(BRCA1):c.2586_2593del:p.Val863fs	coding	Pathogenic
17	43092940	G	GA	C43092944A	BRCA1	NM_007294.4(BRCA1):c.2590dup:p.Ser864fs	coding	Pathogenic
17	43092943	AC	A	C43092945T	BRCA1	NM_007294.4(BRCA1):c.2587del:p.Val863fs	coding	Pathogenic
17	43092952	G	GAA	T43092953A	BRCA1	NM_007294.4(BRCA1):c.2578_2579insTT:p.Thr860fs	coding	Pathogenic
17	43092953	T	TAA	T43092955A	BRCA1	NM_007294.4(BRCA1):c.2577_2578insTT:p.Thr860fs	coding	Pathogenic
17	43092954	AT	A	T43092956C	BRCA1	NM_007294.4(BRCA1):c.2576del:p.Asn859fs	coding	Pathogenic
17	43092963	AT	A	T43092964A	BRCA1	NM_007294.4(BRCA1):c.2567del:p.Tyr856fs	coding	Pathogenic
17	43092964	T	TAATCA	C43092966A	BRCA1	NM_007294.4(BRCA1):c.2566_2567insTGATT:p.Tyr856fs	coding	Pathogenic
17	43092965	ACTGAG	A	T43092967A	BRCA1	NM_007294.4(BRCA1):c.2561_2565del:p.Ala854fs	coding	Pathogenic
17	43092967	T	TGC	A43092969C	BRCA1	NM_007294.4(BRCA1):c.2563_2564insGC:p.Gln855fs	coding	Pathogenic
17	43092968	G	GGC	A43092969G	BRCA1	NM_007294.4(BRCA1):c.2562_2563insGC:p.Gln855fs	coding	Pathogenic
17	43092969	A	AGC	A43092972G	BRCA1	NM_007294.4(BRCA1):c.2560_2561dup:p.Gln855fs	coding	Pathogenic
17	43092972	A	AT	C43092974T	BRCA1	NM_007294.3(BRCA1):c.2558dupA:p.Asp853Glufs	coding	Pathogenic
17	43092973	T	TGAAAAGTGAA	C43092974G	BRCA1	NM_007294.4(BRCA1):c.2557_2558insTTCACTTTTC:p.Asp853fs	coding	Pathogenic
17	43092974	CA	C	A43092976G	BRCA1	NM_007294.4(BRCA1):c.2556del:p.Asp853fs	coding	Pathogenic
17	43092974	C	CA	G43092977A	BRCA1	NM_007294.4(BRCA1):c.2556dup:p.Asp853Ter	coding	Pathogenic
17	43092974	C	CGAAAAGTGAA	A43092975G	BRCA1	NM_007294.4(BRCA1):c.2556_2557insTTCACTTTTC:p.Asp853fs	coding	Pathogenic
17	43092977	G	GTT	C43092980T	BRCA1	NM_007294.4(BRCA1):c.2552_2553dup:p.Leu852fs	coding	Pathogenic
17	43092977	GTT	G	T43092978C	BRCA1	NM_007294.4(BRCA1):c.2552_2553del:p.Glu851fs	coding	Pathogenic
17	43092979	TCA	T	A43092981T	BRCA1	NM_007294.4(BRCA1):c.2550_2551del:p.Ser850fs	coding	Pathogenic
17	43092979	TC	T	C43092980A	BRCA1	NM_007294.4(BRCA1):c.2551del:p.Glu851fs	coding	Pathogenic
17	43092982	CT	C	T43092985C	BRCA1	NM_007294.4(BRCA1):c.2548del:p.Ser850fs	coding	Pathogenic
17	43092985	TCTTC	T	T43092987A	BRCA1	NM_007294.4(BRCA1):c.2542_2545del:p.Glu848fs	coding	Pathogenic
17	43092991	ATT	C	A43092991C	BRCA1	NM_007294.4(BRCA1):c.2538_2540delinsG:p.Met847fs	coding	Pathogenic
17	43092994	TCTATG	T	A43092997T	BRCA1	NM_007294.4(BRCA1):c.2532_2536del:p.Ser844fs	coding	Pathogenic
17	43093000	CTT	C	T43093001G	BRCA1	NM_007294.4(BRCA1):c.2529_2530del:p.Ser844fs	coding	Pathogenic
17	43093003	GT	G	T43093006C	BRCA1	NM_007294.4(BRCA1):c.2527del:p.Thr843fs	coding	Pathogenic
17	43093006	T	TC	G43093010C	BRCA1	NM_007294.4(BRCA1):c.2524dup:p.Glu842fs	coding	Pathogenic
17	43093009	CGACT	C	A43093011T	BRCA1	NM_007294.4(BRCA1):c.2518_2521del:p.Ser840fs	coding	Pathogenic
17	43093012	CT	C	T43093013G	BRCA1	NM_007294.4(BRCA1):c.2518del:p.Ser840fs	coding	Pathogenic
17	43093012	CTG	C	T43093015G	BRCA1	NM_007294.4(BRCA1):c.2515_2516CA[1]:p.His839fs	coding	Pathogenic
17	43093015	TG	T	G43093017T	BRCA1	NM_007294.4(BRCA1):c.2515del:p.His839fs	coding	Pathogenic
17	43093017	GT	G	T43093019A	BRCA1	NM_007294.4(BRCA1):c.2513del:p.Asn838fs	coding	Pathogenic
17	43093019	TA	T	A43093021C	BRCA1	NM_007294.4(BRCA1):c.2511del:p.Asn838fs	coding	Pathogenic
17	43093022	CTT	C	T43093023C	BRCA1	NM_007294.4(BRCA1):c.2507_2508del:p.Glu836fs	coding	Pathogenic
17	43093024	TC	T	C43093025A	BRCA1	NM_007294.4(BRCA1):c.2506del:p.Glu836fs	coding	Pathogenic
17	43093026	A	AT	G43093028T	BRCA1	NM_007294.4(BRCA1):c.2504dup:p.His835fs	coding	Pathogenic
17	43093026	A	ATGTCCCAATGGATACTT	A43093044T	BRCA1	NM_007294.4(BRCA1):c.2488_2504dup:p.His835fs	coding	Pathogenic
17	43093029	TC	T	C43093032A	BRCA1	NM_007294.4(BRCA1):c.2501del:p.Gly834fs	coding	Pathogenic
17	43093032	C	CA	T43093035A	BRCA1	NM_007294.4(BRCA1):c.2498dup:p.Leu833fs	coding	Pathogenic
17	43093033	A	AATGGATAC	T43093042A	BRCA1	NM_007294.4(BRCA1):c.2490_2497dup:p.Leu833fs	coding	Pathogenic
17	43093033	A	AATGGATACTT	A43093045T	BRCA1	NM_007294.4(BRCA1):c.2488_2497dup:p.Leu833Ter	coding	Pathogenic
17	43093037	G	GAC	T43093039C	BRCA1	NM_007294.4(BRCA1):c.2493_2494insGT:p.Pro832fs	coding	Pathogenic
17	43093038	ATACT	A	C43093041A	BRCA1	NM_007294.4(BRCA1):c.2489_2492del:p.Lys830fs	coding	Pathogenic
17	43093039	TACTTAAAGCCTTCTG	CA	T43093039C	BRCA1	NM_007294.4(BRCA1):c.2477_2492delinsTG:p.Thr826fs	coding	Pathogenic
17	43093041	C	CATGGATACTT	T43093042A	BRCA1	NM_007294.4(BRCA1):c.2489_2490insAAGTATCCAT:p.Tyr831fs	coding	Pathogenic
17	43093042	T	TAGGGG	T43093043A	BRCA1	NM_007294.4(BRCA1):c.2488_2489insCCCCT:p.Lys830fs	coding	Pathogenic
17	43093043	TAA	T	A43093045G	BRCA1	NM_007294.4(BRCA1):c.2486_2487del:p.Gly828_Phe829insTer	coding	Pathogenic
17	43093043	TA	T	A43093046G	BRCA1	NM_007294.4(BRCA1):c.2487del:p.Phe829fs	coding	Pathogenic
17	43093043	T	TA	G43093047A	BRCA1	NM_007294.4(BRCA1):c.2487dup:p.Lys830Ter	coding	Pathogenic
17	43093043	T	TAGGGG	A43093045G	BRCA1	NM_007294.4(BRCA1):c.2487_2488insCCCCT:p.Lys830fs	coding	Pathogenic
17	43093049	CT	C	T43093051C	BRCA1	NM_007294.4(BRCA1):c.2481del:p.Gly828fs	coding	Pathogenic
17	43093052	CTG	C	G43093056C	BRCA1	NM_007294.4(BRCA1):c.2475_2476CA[1]:p.Thr826fs	coding	Pathogenic
17	43093053	TG	T	G43093054T	BRCA1	NM_007294.4(BRCA1):c.2477del:p.Thr826fs	coding	Pathogenic
17	43093054	GT	G	T43093055G	BRCA1	NM_007294.4(BRCA1):c.2476del:p.Thr826fs	coding	Pathogenic
17	43093055	TG	T	G43093056T	BRCA1	NM_007294.4(BRCA1):c.2475del:p.Asp825fs	coding	Pathogenic
17	43093056	G	GT	C43093058T	BRCA1	NM_007294.4(BRCA1):c.2474dup:p.Asp825fs	coding	Pathogenic
17	43093057	TC	T	C43093058A	BRCA1	NM_007294.4(BRCA1):c.2473del:p.Asp825fs	coding	Pathogenic
17	43093059	AT	A	T43093062C	BRCA1	NM_007294.4(BRCA1):c.2471del:p.Asn824fs	coding	Pathogenic
17	43093062	TC	T	C43093063T	BRCA1	NM_007294.4(BRCA1):c.2468del:p.Arg823fs	coding	Pathogenic
17	43093063	CT	C	T43093064A	BRCA1	NM_007294.4(BRCA1):c.2467del:p.Arg823fs	coding	Pathogenic
17	43093073	TG	T	G43093075A	BRCA1	NM_007294.4(BRCA1):c.2457del:p.Asp821fs	coding	Pathogenic
17	43093080	AC	A	C43093082A	BRCA1	NM_007294.4(BRCA1):c.2450del:p.Gly817fs	coding	Pathogenic
17	43093080	ACCATGAATTAGTCC	A	C43093082T	BRCA1	NM_007294.4(BRCA1):c.2437_2450del:p.Gly813fs	coding	Pathogenic
17	43093082	CATGA	C	G43093085T	BRCA1	NM_007294.4(BRCA1):c.2445_2448del:p.Ile815fs	coding	Pathogenic
17	43093085	G	GA	T43093088A	BRCA1	NM_007294.4(BRCA1):c.2445dup:p.His816fs	coding	Pathogenic
17	43093087	A	AT	A43093090T	BRCA1	NM_007294.4(BRCA1):c.2443dup:p.Ile815fs	coding	Pathogenic
17	43093087	AT	A	T43093089A	BRCA1	NM_007294.4(BRCA1):c.2443del:p.Ile815fs	coding	Pathogenic
17	43093088	T	TA	T43093089A	BRCA1	NM_007294.4(BRCA1):c.2442_2443insT:p.Ile815fs	coding	Pathogenic
17	43093092	T	TC	T43093096C	BRCA1	NM_007294.4(BRCA1):c.2438dup:p.Leu814fs	coding	Pathogenic
17	43093097	TG	T	G43093101T	BRCA1	NM_007294.4(BRCA1):c.2433del:p.Lys812fs	coding	Pathogenic
17	43093097	T	TG	T43093102G	BRCA1	NM_007294.4(BRCA1):c.2433dup:p.Lys812fs	coding	Pathogenic
17	43093101	G	GT	C43093106T	BRCA1	NM_007294.4(BRCA1):c.2429dup:p.Asn810fs	coding	Pathogenic
17	43093101	GT	G	T43093105C	BRCA1	NM_007294.4(BRCA1):c.2429del:p.Asn810fs	coding	Pathogenic
17	43093106	CA	C	A43093109T	BRCA1	NM_007294.4(BRCA1):c.2424del:p.Phe808fs	coding	Pathogenic
17	43093112	C	CT	G43093114T	BRCA1	NM_007294.4(BRCA1):c.2418dup:p.Ala807fs	coding	Pathogenic
17	43093112	CT	C	T43093113G	BRCA1	NM_007294.4(BRCA1):c.2418del:p.Ala807fs	coding	Pathogenic
17	43093113	TGC	T	G43093114A	BRCA1	NM_007294.4(BRCA1):c.2416_2417del:p.Ala806fs	coding	Pathogenic
17	43093118	ACT	A	C43093119G	BRCA1	NM_007294.4(BRCA1):c.2411_2412del:p.Gln804fs	coding	Pathogenic
17	43093119	CT	C	T43093120G	BRCA1	NM_007294.4(BRCA1):c.2411del:p.Gln804fs	coding	Pathogenic
17	43093119	CTGACTCACACATTT	C	T43093120A	BRCA1	NM_007294.4(BRCA1):c.2398_2411del:p.Lys800fs	coding	Pathogenic
17	43093120	TGA	T	G43093121C	BRCA1	NM_007294.4(BRCA1):c.2409_2410del:p.Ser803fs	coding	Pathogenic
17	43093121	GACTC	G	T43093124A	BRCA1	NM_007294.4(BRCA1):c.2406_2409del:p.Gln804fs	coding	Pathogenic
17	43093121	GA	G	A43093122C	BRCA1	NM_007294.4(BRCA1):c.2409del:p.Gln804fs	coding	Pathogenic
17	43093122	ACT	A	T43093124A	BRCA1	NM_007294.4(BRCA1):c.2407_2408del:p.Gln804fs	coding	Pathogenic
17	43093124	TCA	T	C43093129T	BRCA1	NM_007294.4(BRCA1):c.2401_2402TG[2]:p.Val802fs	coding	Pathogenic
17	43093128	AC	A	C43093129A	BRCA1	NM_007294.4(BRCA1):c.2402del:p.Cys801fs	coding	Pathogenic
17	43093129	CATTT	C	A43093134G	BRCA1	NM_007294.4(BRCA1):c.2394_2397AAAT[1]:p.Lys800fs	coding	Pathogenic
17	43093134	AT	A	T43093137G	BRCA1	NM_007294.4(BRCA1):c.2396del:p.Asn799fs	coding	Pathogenic
17	43093136	T	TTGGTTCTGTTTTTGCCTTCCCTAGAGTGCTAACTTCCAGTAACGAGATACTTTCC	A43093194G	BRCA1	NM_007294.4(BRCA1):c.2340_2394dup:p.Asn799delinsGlyLysTyrLeuValThrGlySerTer	coding	Pathogenic
17	43093137	TG	T	G43093139T	BRCA1	NM_007294.4(BRCA1):c.2393del:p.Pro798fs	coding	Pathogenic
17	43093138	GG	T	G43093138T	BRCA1	NM_007294.4(BRCA1):c.2392_2393delinsA:p.Pro798fs	coding	Pathogenic
17	43093139	GTT	G	T43093140C	BRCA1	NM_007294.4(BRCA1):c.2390_2391del:p.Glu797fs	coding	Pathogenic
17	43093140	TTC	T	C43093142G	BRCA1	NM_007294.4(BRCA1):c.2389_2390del:p.Glu797fs	coding	Pathogenic
17	43093141	TC	T	C43093142T	BRCA1	NM_007294.4(BRCA1):c.2389del:p.Glu797fs	coding	Pathogenic
17	43093143	T	TG	T43093145G	BRCA1	NM_007294.4(BRCA1):c.2387dup:p.Glu797fs	coding	Pathogenic
17	43093144	G	GT	G43093150T	BRCA1	NM_007294.4(BRCA1):c.2386dup:p.Thr796fs	coding	Pathogenic
17	43093144	GT	A	G43093144A	BRCA1	NM_007294.4(BRCA1):c.2386_2387delinsT:p.Lys795_Thr796insTer	coding	Pathogenic
17	43093144	GT	G	T43093149G	BRCA1	NM_007294.4(BRCA1):c.2386del:p.Thr796fs	coding	Pathogenic
17	43093150	G	GC	T43093153C	BRCA1	NM_007294.4(BRCA1):c.2380dup:p.Ala794fs	coding	Pathogenic
17	43093152	C	CT	C43093155T	BRCA1	NM_007294.4(BRCA1):c.2378dup:p.Ala794fs	coding	Pathogenic
17	43093154	TC	T	C43093157T	BRCA1	NM_007294.4(BRCA1):c.2376del:p.Lys793fs	coding	Pathogenic
17	43093161	AGT	A	T43093163C	BRCA1	NM_007294.4(BRCA1):c.2368_2369del:p.Thr790fs	coding	Pathogenic
17	43093168	AC	A	C43093169T	BRCA1	NM_007294.4(BRCA1):c.2362del:p.Val788fs	coding	Pathogenic
17	43093169	CT	C	T43093171C	BRCA1	NM_007294.4(BRCA1):c.2361del:p.Val788fs	coding	Pathogenic
17	43093171	TC	T	C43093173A	BRCA1	NM_007294.4(BRCA1):c.2359del:p.Glu787fs	coding	Pathogenic
17	43093171	T	TC	A43093174C	BRCA1	NM_007294.3(BRCA1):c.2359dupG:p.Glu787Glyfs	coding	Pathogenic
17	43093173	CA	C	A43093174G	BRCA1	NM_007294.4(BRCA1):c.2357del:p.Leu786fs	coding	Pathogenic
17	43093173	CAGTAACG	C	T43093176A	BRCA1	NM_007294.4(BRCA1):c.2351_2357del:p.Ser784fs	coding	Pathogenic
17	43093174	AG	A	G43093175T	BRCA1	NM_007294.4(BRCA1):c.2356del:p.Leu786fs	coding	Pathogenic
17	43093175	G	GT	A43093177T	BRCA1	NM_007294.4(BRCA1):c.2355dup:p.Leu786fs	coding	Pathogenic
17	43093179	CGA	C	G43093182T	BRCA1	NM_007294.4(BRCA1):c.2348_2349TC[1]:p.Ser784fs	coding	Pathogenic
17	43093182	GAT	G	T43093184C	BRCA1	NM_007294.4(BRCA1):c.2347_2348del:p.Ile783fs	coding	Pathogenic
17	43093184	T	TA	C43093186A	BRCA1	NM_007294.4(BRCA1):c.2346dup:p.Ile783fs	coding	Pathogenic
17	43093185	AC	A	C43093186T	BRCA1	NM_007294.4(BRCA1):c.2345del:p.Ser782fs	coding	Pathogenic
17	43093186	C	CT	C43093190T	BRCA1	NM_007294.4(BRCA1):c.2344dup:p.Ser782fs	coding	Pathogenic
17	43093187	TTTCC	T	T43093189G	BRCA1	NM_007294.4(BRCA1):c.2340_2343del:p.Glu781fs	coding	Pathogenic
17	43093192	TGA	T	A43093194T	BRCA1	NM_007294.4(BRCA1):c.2337_2338del:p.Gln780fs	coding	Pathogenic
17	43093198	C	CCA	T43093201C	BRCA1	NM_007294.4(BRCA1):c.2331_2332dup:p.Gly778fs	coding	Pathogenic
17	43093201	TA	T	A43093203T	BRCA1	NM_007294.4(BRCA1):c.2329del:p.Tyr777fs	coding	Pathogenic
17	43093203	A	AT	C43093205T	BRCA1	NM_007294.4(BRCA1):c.2327dup:p.Asp776fs	coding	Pathogenic
17	43093207	GTACCAGGTACCAA	G	A43093209G	BRCA1	NM_007294.4(BRCA1):c.2311_2323del:p.Val772fs	coding	Pathogenic
17	43093208	TA	T	A43093209C	BRCA1	NM_007294.4(BRCA1):c.2322del:p.Thr775fs	coding	Pathogenic
17	43093213	GGTACCAA	G	G43093214T	BRCA1	NM_007294.4(BRCA1):c.2311_2317del:p.Pro773fs	coding	Pathogenic
17	43093215	TAC	T	A43093216C	BRCA1	NM_007294.4(BRCA1):c.2314_2315del:p.Val772fs	coding	Pathogenic
17	43093216	AC	A	C43093218A	BRCA1	NM_007294.4(BRCA1):c.2314del:p.Val772fs	coding	Pathogenic
17	43093217	CCAATGAA	C	C43093218A	BRCA1	NM_007294.4(BRCA1):c.2307_2313del:p.Ile769fs	coding	Pathogenic
17	43093218	C	CG	A43093219G	BRCA1	NM_007294.4(BRCA1):c.2312_2313insC:p.Leu771fs	coding	Pathogenic
17	43093219	A	AG	A43093220G	BRCA1	NM_007294.4(BRCA1):c.2311_2312insC:p.Leu771fs	coding	Pathogenic
17	43093220	A	ATGAAATACTGCTACTCTCT	A43093240T	BRCA1	NM_007294.4(BRCA1):c.2292_2310dup:p.Leu771delinsArgGluTer	coding	Pathogenic
17	43093222	GA	G	A43093225T	BRCA1	NM_007294.4(BRCA1):c.2308del:p.Ser770fs	coding	Pathogenic
17	43093228	CT	C	T43093229G	BRCA1	NM_007294.4(BRCA1):c.2302del:p.Ser768fs	coding	Pathogenic
17	43093231	CT	C	T43093232A	BRCA1	NM_007294.4(BRCA1):c.2299del:p.Ser767fs	coding	Pathogenic
17	43093232	TAC	T	A43093233T	BRCA1	NM_007294.4(BRCA1):c.2297_2298del:p.Ser766fs	coding	Pathogenic
17	43093232	T	TA	C43093234A	BRCA1	NM_007294.4(BRCA1):c.2298dup:p.Ser767Ter	coding	Pathogenic
17	43093233	ACT	A	C43093238A	BRCA1	NM_007294.4(BRCA1):c.2292_2293AG[2]:p.Glu765_Ser766insTer	coding	Pathogenic
17	43093241	CA	C	A43093242G	BRCA1	NM_007294.4(BRCA1):c.2289del:p.Ser763_Val764insTer	coding	Pathogenic
17	43093246	CTT	C	T43093248C	BRCA1	NM_007294.4(BRCA1):c.2283_2284del:p.Arg762fs	coding	Pathogenic
17	43093250	CAGTTTGCAAAACCCTTTCTCCACTTAACATGAGAT	C	A43093251C	BRCA1	NM_007294.4(BRCA1):c.2246_2280del:p.Asp749fs	coding	Pathogenic
17	43093252	GT	G	T43093255G	BRCA1	NM_007294.4(BRCA1):c.2278del:p.Thr760fs	coding	Pathogenic
17	43093257	CA	C	A43093261C	BRCA1	NM_007294.4(BRCA1):c.2273del:p.Leu758fs	coding	Pathogenic
17	43093257	C	CA	C43093262A	BRCA1	NM_007294.4(BRCA1):c.2273dup:p.Leu758fs	coding	Pathogenic
17	43093261	AC	A	C43093264T	BRCA1	NM_007294.4(BRCA1):c.2269del:p.Val757fs	coding	Pathogenic
17	43093267	TC	T	C43093268T	BRCA1	NM_007294.4(BRCA1):c.2263del:p.Glu755fs	coding	Pathogenic
17	43093270	CCACTT	C	C43093271A	BRCA1	NM_007294.4(BRCA1):c.2256_2260del:p.Ser753fs	coding	Pathogenic
17	43093271	CACTTA	C	T43093274A	BRCA1	NM_007294.4(BRCA1):c.2255_2259del:p.Leu752fs	coding	Pathogenic
17	43093273	C	CT	A43093276T	BRCA1	NM_007294.4(BRCA1):c.2257dup:p.Ser753fs	coding	Pathogenic
17	43093274	T	TTA	A43093277T	BRCA1	NM_007294.4(BRCA1):c.2255_2256dup:p.Ser753Ter	coding	Pathogenic
17	43093276	AAC	A	C43093278T	BRCA1	NM_007294.4(BRCA1):c.2253_2254del:p.Met751fs	coding	Pathogenic
17	43093278	CATGAG	C	G43093281C	BRCA1	NM_007294.4(BRCA1):c.2248_2252del:p.Leu750fs	coding	Pathogenic
17	43093279	ATGAGATCTTT	A	T43093280G	BRCA1	NM_007294.4(BRCA1):c.2242_2251del:p.Lys748fs	coding	Pathogenic
17	43093283	G	GTC	A43093284T	BRCA1	NM_007294.4(BRCA1):c.2247_2248insGA:p.Leu750fs	coding	Pathogenic
17	43093284	A	ATC	T43093288C	BRCA1	NM_007294.4(BRCA1):c.2245_2246dup:p.Asp749fs	coding	Pathogenic
17	43093285	TC	T	C43093286T	BRCA1	NM_007294.4(BRCA1):c.2245del:p.Asp749fs	coding	Pathogenic
17	43093286	C	CT	G43093290T	BRCA1	NM_007294.4(BRCA1):c.2244dup:p.Asp749fs	coding	Pathogenic
17	43093289	TG	T	G43093293T	BRCA1	NM_007294.4(BRCA1):c.2241del:p.Asp749fs	coding	Pathogenic
17	43093289	T	TG	T43093294G	BRCA1	NM_007294.3(BRCA1):c.2241dupC:p.Lys748Glnfs	coding	Pathogenic
17	43093294	T	TC	T43093296C	BRCA1	NM_007294.3(BRCA1):c.2236dupG:p.Asp746Glyfs	coding	Pathogenic
17	43093302	AT	A	T43093304A	BRCA1	NM_007294.4(BRCA1):c.2228del:p.Asn743fs	coding	Pathogenic
17	43093303	TTA	T	A43093305T	BRCA1	NM_007294.4(BRCA1):c.2226_2227del:p.Asn742fs	coding	Pathogenic
17	43093307	TAG	T	G43093309C	BRCA1	NM_007294.4(BRCA1):c.2222_2223del:p.Val740_Ser741insTer	coding	Pathogenic
17	43093307	T	TA	G43093309A	BRCA1	NM_007294.4(BRCA1):c.2223dup:p.Asn742Ter	coding	Pathogenic
17	43093309	G	GACACTTTAACTGTTTCTAGTTTCTCTTCTTTTTCTTCTCTTGGAAGGCTAGGATTGACAAATTCTTT	A43093378C	BRCA1	NM_007294.4(BRCA1):c.2155_2221dup:p.Ser741Ter	coding	Pathogenic
17	43093312	AC	A	C43093313T	BRCA1	NM_007294.4(BRCA1):c.2218del:p.Val740fs	coding	Pathogenic
17	43093313	C	CT	A43093317T	BRCA1	NM_007294.4(BRCA1):c.2217dup:p.Val740fs	coding	Pathogenic
17	43093313	CTT	C	T43093315A	BRCA1	NM_007294.4(BRCA1):c.2216_2217del:p.Lys739fs	coding	Pathogenic
17	43093313	CTTTA	TTT	C43093313T	BRCA1	NM_007294.4(BRCA1):c.2214_2218delinsAAA:p.Lys739fs	coding	Pathogenic
17	43093314	T	TAG	T43093315A	BRCA1	NM_007294.4(BRCA1):c.2216_2217insCT:p.Lys739fs	coding	Pathogenic
17	43093315	TTAAC	T	A43093317G	BRCA1	NM_007294.4(BRCA1):c.2212_2215del:p.Val738fs	coding	Pathogenic
17	43093315	T	TAG	T43093316A	BRCA1	NM_007294.4(BRCA1):c.2215_2216insCT:p.Lys739fs	coding	Pathogenic
17	43093316	TA	T	A43093318C	BRCA1	NM_007294.4(BRCA1):c.2214del:p.Val740fs	coding	Pathogenic
17	43093316	T	TAA	C43093319A	BRCA1	NM_007294.4(BRCA1):c.2213_2214dup:p.Lys739fs	coding	Pathogenic
17	43093316	T	TA	C43093319A	BRCA1	NM_007294.4(BRCA1):c.2214dup:p.Lys739Ter	coding	Pathogenic
17	43093318	ACT	A	C43093319G	BRCA1	NM_007294.4(BRCA1):c.2211_2212del:p.Thr737_Val738insTer	coding	Pathogenic
17	43093319	C	CT	G43093321T	BRCA1	NM_007294.4(BRCA1):c.2211dup:p.Val738fs	coding	Pathogenic
17	43093319	CTG	C	G43093321T	BRCA1	NM_007294.4(BRCA1):c.2210_2211del:p.Thr737fs	coding	Pathogenic
17	43093320	TG	T	G43093321T	BRCA1	NM_007294.4(BRCA1):c.2210del:p.Thr737fs	coding	Pathogenic
17	43093321	GT	G	T43093324C	BRCA1	NM_007294.4(BRCA1):c.2209del:p.Thr737fs	coding	Pathogenic
17	43093324	TC	T	C43093325T	BRCA1	NM_007294.4(BRCA1):c.2206del:p.Glu736fs	coding	Pathogenic
17	43093325	CT	C	T43093326A	BRCA1	NM_007294.4(BRCA1):c.2205del:p.Glu736fs	coding	Pathogenic
17	43093327	AG	A	G43093328T	BRCA1	NM_007294.4(BRCA1):c.2203del:p.Lys734_Leu735insTer	coding	Pathogenic
17	43093328	G	GT	C43093332T	BRCA1	NM_007294.4(BRCA1):c.2202dup:p.Leu735fs	coding	Pathogenic
17	43093328	GT	G	T43093331C	BRCA1	NM_007294.4(BRCA1):c.2202del:p.Lys734fs	coding	Pathogenic
17	43093329	TTTCTC	T	C43093334T	BRCA1	NM_007294.4(BRCA1):c.2197_2201del:p.Glu733fs	coding	Pathogenic
17	43093329	TTTCTCTTCTTTTTC	T	C43093337G	BRCA1	NM_007294.4(BRCA1):c.2188_2201del:p.Glu730fs	coding	Pathogenic
17	43093331	TC	T	C43093332T	BRCA1	NM_007294.4(BRCA1):c.2199del:p.Lys734fs	coding	Pathogenic
17	43093332	C	CT	C43093334T	BRCA1	NM_007294.4(BRCA1):c.2198dup:p.Lys734fs	coding	Pathogenic
17	43093334	CT	C	T43093336C	BRCA1	NM_007294.4(BRCA1):c.2196del:p.Glu733fs	coding	Pathogenic
17	43093334	CTTCT	C	C43093337T	BRCA1	NM_007294.4(BRCA1):c.2193_2196del:p.Glu732fs	coding	Pathogenic
17	43093334	CTTCTT	C	C43093337T	BRCA1	NM_007294.4(BRCA1):c.2192_2196del:p.Lys731fs	coding	Pathogenic
17	43093335	TT	C	T43093335C	BRCA1	NM_007294.4(BRCA1):c.2195_2196delinsG:p.Glu732fs	coding	Pathogenic
17	43093336	TCTTTTTC	CCTTTTT	T43093336C	BRCA1	NM_007294.4(BRCA1):c.2188_2195delinsAAAAAGG:p.Glu730fs	coding	Pathogenic
17	43093337	CT	C	T43093342C	BRCA1	NM_007294.4(BRCA1):c.2193del:p.Glu732fs	coding	Pathogenic
17	43093337	C	TT	C43093337T	BRCA1	NM_007294.4(BRCA1):c.2194delinsAA:p.Glu732fs	coding	Pathogenic
17	43093341	TTCTTC	T	C43093346G	BRCA1	NM_007294.4(BRCA1):c.2185_2189del:p.Glu729fs	coding	Pathogenic
17	43093342	T	TC	T43093344C	BRCA1	NM_007294.4(BRCA1):c.2188dup:p.Glu730fs	coding	Pathogenic
17	43093345	TC	T	C43093346T	BRCA1	NM_007294.4(BRCA1):c.2185del:p.Glu729fs	coding	Pathogenic
17	43093353	AAG	A	A43093354G	BRCA1	NM_007294.4(BRCA1):c.2176_2177del:p.Leu726fs	coding	Pathogenic
17	43093354	AG	A	G43093356C	BRCA1	NM_007294.4(BRCA1):c.2176del:p.Leu726fs	coding	Pathogenic
17	43093356	GC	G	C43093357T	BRCA1	NM_007294.4(BRCA1):c.2174del:p.Ser725fs	coding	Pathogenic
17	43093359	AGGATTGACAAATTCTTTAAGTTCACTGGTATTTGAACACTTAGTAAAAGAACCAGGTGCATTTGTTAACTTCAGCTCTGGGAAAGTATCGCTGTCATGTCT	A	G43093360T	BRCA1	NM_007294.4(BRCA1):c.2071_2171del:p.Lys690_Arg691insTer	coding	Pathogenic
17	43093362	ATTGACAAATTCTTT	A	T43093363A	BRCA1	NM_007294.4(BRCA1):c.2155_2168del:p.Lys719fs	coding	Pathogenic
17	43093364	TG	T	G43093365A	BRCA1	NM_007294.4(BRCA1):c.2166del:p.Asn723fs	coding	Pathogenic
17	43093366	AC	A	C43093367A	BRCA1	NM_007294.4(BRCA1):c.2164del:p.Val722fs	coding	Pathogenic
17	43093367	CAA	C	A43093369T	BRCA1	NM_007294.4(BRCA1):c.2162_2163del:p.Phe721fs	coding	Pathogenic
17	43093367	C	CAAATTCTT	T43093376A	BRCA1	NM_007294.4(BRCA1):c.2156_2163dup:p.Val722fs	coding	Pathogenic
17	43093368	A	AC	A43093369C	BRCA1	NM_007294.4(BRCA1):c.2162_2163insG:p.Phe721fs	coding	Pathogenic
17	43093369	A	AC	A43093370C	BRCA1	NM_007294.4(BRCA1):c.2161_2162insG:p.Phe721fs	coding	Pathogenic
17	43093370	AT	A	T43093372C	BRCA1	NM_007294.4(BRCA1):c.2160del:p.Glu720fs	coding	Pathogenic
17	43093370	ATTCT	A	C43093373A	BRCA1	NM_007294.4(BRCA1):c.2157_2160del:p.Lys719fs	coding	Pathogenic
17	43093371	TTC	T	C43093373T	BRCA1	NM_007294.4(BRCA1):c.2158_2159del:p.Glu720fs	coding	Pathogenic
17	43093373	C	CT	A43093377T	BRCA1	NM_007294.4(BRCA1):c.2157dup:p.Glu720fs	coding	Pathogenic
17	43093376	TAAGTTCACTGGT	AAAGA	T43093376A	BRCA1	NM_007294.4(BRCA1):c.2143_2155delinsTCTTT:p.Thr715fs	coding	Pathogenic
17	43093378	AGTTC	A	G43093379A	BRCA1	NM_007294.4(BRCA1):c.2149_2152del:p.Glu717fs	coding	Pathogenic
17	43093385	TG	T	G43093387T	BRCA1	NM_007294.4(BRCA1):c.2145del:p.Ser716fs	coding	Pathogenic
17	43093386	GGTATT	G	G43093387T	BRCA1	NM_007294.4(BRCA1):c.2140_2144del:p.Asn714fs	coding	Pathogenic
17	43093387	GTA	CT	G43093387C	BRCA1	NM_007294.4(BRCA1):c.2142_2144delinsAG:p.Asn714fs	coding	Pathogenic
17	43093388	TA	T	A43093389T	BRCA1	NM_007294.4(BRCA1):c.2142del:p.Asn714fs	coding	Pathogenic
17	43093391	T	TTG	A43093394T	BRCA1	NM_007294.4(BRCA1):c.2138_2139dup:p.Asn714fs	coding	Pathogenic
17	43093394	AAC	A	A43093397T	BRCA1	NM_007294.4(BRCA1):c.2133_2134GT[1]:p.Cys712fs	coding	Pathogenic
17	43093398	CTT	C	T43093399A	BRCA1	NM_007294.4(BRCA1):c.2131_2132del:p.Lys711fs	coding	Pathogenic
17	43093399	T	TTAGTAAAAGAACCAGGTGCA	T43093421A	BRCA1	NM_007294.4(BRCA1):c.2112_2131dup:p.Lys711fs	coding	Pathogenic
17	43093401	A	TT	A43093401T	BRCA1	NM_007294.4(BRCA1):c.2130delinsAA:p.Cys712fs	coding	Pathogenic
17	43093402	G	GT	A43093404T	BRCA1	NM_007294.4(BRCA1):c.2128dup:p.Thr710fs	coding	Pathogenic
17	43093402	G	GTC	A43093404C	BRCA1	NM_007294.4(BRCA1):c.2128_2129insGA:p.Thr710fs	coding	Pathogenic
17	43093403	TAA	T	A43093406G	BRCA1	NM_007294.4(BRCA1):c.2126_2127del:p.Phe709fs	coding	Pathogenic
17	43093403	TA	T	A43093407G	BRCA1	NM_007294.4(BRCA1):c.2127del:p.Phe709fs	coding	Pathogenic
17	43093403	T	TTC	A43093404T	BRCA1	NM_007294.4(BRCA1):c.2127_2128insGA:p.Thr710fs	coding	Pathogenic
17	43093404	A	AT	A43093405T	BRCA1	NM_007294.4(BRCA1):c.2126_2127insA:p.Phe709fs	coding	Pathogenic
17	43093405	A	AACT	A43093407C	BRCA1	NM_007294.4(BRCA1):c.2125_2126insAGT:p.Phe709Ter	coding	Pathogenic
17	43093405	A	AT	A43093406T	BRCA1	NM_007294.4(BRCA1):c.2125_2126insA:p.Phe709fs	coding	Pathogenic
17	43093410	AC	A	C43093412A	BRCA1	NM_007294.4(BRCA1):c.2120del:p.Gly707fs	coding	Pathogenic
17	43093418	CAT	C	A43093419T	BRCA1	NM_007294.4(BRCA1):c.2111_2112del:p.Asn704fs	coding	Pathogenic
17	43093419	ATT	A	T43093421G	BRCA1	NM_007294.4(BRCA1):c.2110_2111del:p.Asn704fs	coding	Pathogenic
17	43093425	TA	T	A43093427C	BRCA1	NM_007294.4(BRCA1):c.2105del:p.Lys701_Leu702insTer	coding	Pathogenic
17	43093425	T	TA	C43093428A	BRCA1	NM_007294.4(BRCA1):c.2105dup:p.Leu702fs	coding	Pathogenic
17	43093428	CTT	C	T43093429C	BRCA1	NM_007294.4(BRCA1):c.2101_2102del:p.Lys701fs	coding	Pathogenic
17	43093431	C	CT	A43093432T	BRCA1	NM_007294.4(BRCA1):c.2099_2100insA:p.Lys701fs	coding	Pathogenic
17	43093432	A	AT	G43093433T	BRCA1	NM_007294.4(BRCA1):c.2098_2099insA:p.Leu700fs	coding	Pathogenic
17	43093440	GA	G	A43093443G	BRCA1	NM_007294.4(BRCA1):c.2090del:p.Phe697fs	coding	Pathogenic
17	43093440	G	GA	G43093444A	BRCA1	NM_007294.4(BRCA1):c.2090dup:p.Glu699fs	coding	Pathogenic
17	43093441	AAAGT	A	A43093443T	BRCA1	NM_007294.4(BRCA1):c.2086_2089del:p.Thr696fs	coding	Pathogenic
17	43093444	G	GT	A43093446T	BRCA1	NM_007294.4(BRCA1):c.2086dup:p.Thr696fs	coding	Pathogenic
17	43093444	GT	G	T43093445A	BRCA1	NM_007294.4(BRCA1):c.2086del:p.Thr696fs	coding	Pathogenic
17	43093447	TC	T	C43093448G	BRCA1	NM_007294.4(BRCA1):c.2083del:p.Asp695fs	coding	Pathogenic
17	43093450	C	CT	G43093452T	BRCA1	NM_007294.4(BRCA1):c.2080dup:p.Ser694fs	coding	Pathogenic
17	43093450	CTG	C	G43093452C	BRCA1	NM_007294.4(BRCA1):c.2079_2080del:p.Asp693fs	coding	Pathogenic
17	43093451	T	TTA	G43093452T	BRCA1	NM_007294.4(BRCA1):c.2079_2080insTA:p.Ser694Ter	coding	Pathogenic
17	43093452	G	GTA	C43093454A	BRCA1	NM_007294.4(BRCA1):c.2078_2079insTA:p.Ser694fs	coding	Pathogenic
17	43093453	T	TTA	C43093454T	BRCA1	NM_007294.4(BRCA1):c.2077_2078insTA:p.Asp693fs	coding	Pathogenic
17	43093454	CAT	C	A43093455G	BRCA1	NM_007294.4(BRCA1):c.2075_2076del:p.His692fs	coding	Pathogenic
17	43093454	C	TAT	C43093454T	BRCA1	NM_007294.4(BRCA1):c.2077delinsATA:p.Asp693fs	coding	Pathogenic
17	43093455	ATG	A	G43093457C	BRCA1	NM_007294.4(BRCA1):c.2074_2075del:p.Arg691_His692insTer	coding	Pathogenic
17	43093456	TG	T	G43093457T	BRCA1	NM_007294.4(BRCA1):c.2074del:p.His692fs	coding	Pathogenic
17	43093459	CT	C	T43093463A	BRCA1	NM_007294.4(BRCA1):c.2071del:p.Arg691fs	coding	Pathogenic
17	43093459	CTT	C	T43093462A	BRCA1	NM_007294.4(BRCA1):c.2070_2071del:p.Arg691fs	coding	Pathogenic
17	43093461	TTTAC	T	A43093464G	BRCA1	NM_007294.4(BRCA1):c.2066_2069del:p.Ser689fs	coding	Pathogenic
17	43093464	A	AC	T43093466C	BRCA1	NM_007294.4(BRCA1):c.2066dup:p.Ser689fs	coding	Pathogenic
17	43093464	ACTTG	A	C43093465T	BRCA1	NM_007294.4(BRCA1):c.2063_2066del:p.Thr688fs	coding	Pathogenic
17	43093466	TTGTC	T	C43093470T	BRCA1	NM_007294.4(BRCA1):c.2061_2064del:p.Thr688fs	coding	Pathogenic
17	43093470	CTGTT	C	T43093471C	BRCA1	NM_007294.4(BRCA1):c.2057_2060del:p.Glu686fs	coding	Pathogenic
17	43093482	CT	C	T43093484G	BRCA1	NM_007294.4(BRCA1):c.2048del:p.Lys683fs	coding	Pathogenic
17	43093487	T	TA	C43093489A	BRCA1	NM_007294.4(BRCA1):c.2043dup:p.Asn682Ter	coding	Pathogenic
17	43093491	C	CGG	T43093492G	BRCA1	NM_007294.4(BRCA1):c.2039_2040insCC:p.Lys680fs	coding	Pathogenic
17	43093492	T	TGG	T43093493G	BRCA1	NM_007294.4(BRCA1):c.2038_2039insCC:p.Lys680fs	coding	Pathogenic
17	43093493	T	TG	C43093494G	BRCA1	NM_007294.4(BRCA1):c.2037_2038insC:p.Lys680fs	coding	Pathogenic
17	43093494	C	GG	C43093494G	BRCA1	NM_007294.4(BRCA1):c.2037delinsCC:p.Lys679fs	coding	Pathogenic
17	43093501	CCA	C	C43093502G	BRCA1	NM_007294.4(BRCA1):c.2028_2029del:p.Gly677fs	coding	Pathogenic
17	43093507	G	GCA	G43093510C	BRCA1	NM_007294.4(BRCA1):c.2022_2023dup:p.Ala675fs	coding	Pathogenic
17	43093509	AG	A	G43093511T	BRCA1	NM_007294.4(BRCA1):c.2021del:p.Pro674fs	coding	Pathogenic
17	43093511	GT	G	T43093513C	BRCA1	NM_007294.4(BRCA1):c.2019del:p.Glu673fs	coding	Pathogenic
17	43093513	TC	T	C43093514T	BRCA1	NM_007294.4(BRCA1):c.2017del:p.Glu673fs	coding	Pathogenic
17	43093517	T	TAC	C43093520A	BRCA1	NM_007294.4(BRCA1):c.2012_2013dup:p.Lys672fs	coding	Pathogenic
17	43093518	A	AC	T43093521C	BRCA1	NM_007294.4(BRCA1):c.2012dup:p.Gly671_Lys672insTer	coding	Pathogenic
17	43093529	G	GT	G43093532T	BRCA1	NM_007294.4(BRCA1):c.2001dup:p.Leu668fs	coding	Pathogenic
17	43093534	AG	A	G43093536T	BRCA1	NM_007294.4(BRCA1):c.1996del:p.Leu666fs	coding	Pathogenic
17	43093536	GT	G	T43093539C	BRCA1	NM_007294.4(BRCA1):c.1994del:p.Asn665fs	coding	Pathogenic
17	43093552	AC	A	C43093553T	BRCA1	NM_007294.4(BRCA1):c.1978del:p.Val660fs	coding	Pathogenic
17	43093552	ACT	A	C43093553G	BRCA1	NM_007294.4(BRCA1):c.1977_1978del:p.Val660fs	coding	Pathogenic
17	43093558	AT	A	T43093561G	BRCA1	NM_007294.4(BRCA1):c.1972del:p.Met658fs	coding	Pathogenic
17	43093562	GGTTGTAC	G	G43093563T	BRCA1	NM_007294.4(BRCA1):c.1962_1968del:p.Lys654fs	coding	Pathogenic
17	43093566	G	GC	T43093567C	BRCA1	NM_007294.4(BRCA1):c.1964_1965insG:p.Tyr655Ter	coding	Pathogenic
17	43093566	GT	G	T43093567A	BRCA1	NM_007294.4(BRCA1):c.1964del:p.Tyr655fs	coding	Pathogenic
17	43093567	T	TA	C43093569A	BRCA1	NM_007294.4(BRCA1):c.1963dup:p.Tyr655fs	coding	Pathogenic
17	43093567	T	TC	A43093568C	BRCA1	NM_007294.4(BRCA1):c.1963_1964insG:p.Tyr655Ter	coding	Pathogenic
17	43093568	A	AC	T43093570C	BRCA1	NM_007294.4(BRCA1):c.1962dup:p.Tyr655fs	coding	Pathogenic
17	43093568	ACT	A	C43093569T	BRCA1	NM_007294.4(BRCA1):c.1961_1962del:p.Lys654fs	coding	Pathogenic
17	43093569	C	CT	C43093578T	BRCA1	NM_007294.4(BRCA1):c.1961dup:p.Tyr655fs	coding	Pathogenic
17	43093569	CT	C	T43093577C	BRCA1	NM_007294.4(BRCA1):c.1961del:p.Lys654fs	coding	Pathogenic
17	43093569	CTT	C	T43093576C	BRCA1	NM_007294.4(BRCA1):c.1960_1961del:p.Lys654fs	coding	Pathogenic
17	43093569	CTTTT	C	T43093574C	BRCA1	NM_007294.4(BRCA1):c.1958_1961del:p.Lys653fs	coding	Pathogenic
17	43093571	TT	C	T43093571C	BRCA1	NM_007294.4(BRCA1):c.1959_1960delinsG:p.Lys654fs	coding	Pathogenic
17	43093574	TTTTC	T	C43093578A	BRCA1	NM_007294.3(BRCA1):c.1953_1956delGAAA:p.Lys653Serfs	coding	Pathogenic
17	43093577	TC	T	C43093578T	BRCA1	NM_007294.4(BRCA1):c.1953del:p.Lys654fs	coding	Pathogenic
17	43093577	T	TC	T43093579C	BRCA1	NM_007294.3(BRCA1):c.1953dupG:p.Lys652Glufs	coding	Pathogenic
17	43093578	C	CT	A43093582T	BRCA1	NM_007294.3(BRCA1):c.1952dupA:p.Lys652Glufs	coding	Pathogenic
17	43093578	CT	C	T43093581A	BRCA1	NM_007294.4(BRCA1):c.1952del:p.Lys651fs	coding	Pathogenic
17	43093578	CTTTA	C	T43093580C	BRCA1	NM_007294.4(BRCA1):c.1949_1952del:p.Ile650fs	coding	Pathogenic
17	43093580	TTA	T	A43093582C	BRCA1	NM_007294.4(BRCA1):c.1949_1950del:p.Ile650fs	coding	Pathogenic
17	43093580	T	TTG	A43093582G	BRCA1	NM_007294.4(BRCA1):c.1950_1951insCA:p.Lys651fs	coding	Pathogenic
17	43093581	T	TA	T43093583A	BRCA1	NM_007294.4(BRCA1):c.1949dup:p.Lys652fs	coding	Pathogenic
17	43093581	T	TTG	A43093582T	BRCA1	NM_007294.4(BRCA1):c.1949_1950insCA:p.Lys652fs	coding	Pathogenic
17	43093583	TCTCTTCACTG	T	C43093586A	BRCA1	NM_007294.4(BRCA1):c.1938_1947del:p.Ser646fs	coding	Pathogenic
17	43093585	TCTTCACTG	T	T43093588A	BRCA1	NM_007294.4(BRCA1):c.1938_1945del:p.Ser646fs	coding	Pathogenic
17	43093591	CTGCTAGAACAACTATCAATT	C	T43093595A	BRCA1	NM_007294.4(BRCA1):c.1920_1939del:p.Gln640_Ile641insTer	coding	Pathogenic
17	43093594	CT	C	T43093595A	BRCA1	NM_007294.4(BRCA1):c.1936del:p.Ser646fs	coding	Pathogenic
17	43093600	CA	C	A43093602C	BRCA1	NM_007294.4(BRCA1):c.1930del:p.Cys644fs	coding	Pathogenic
17	43093601	AA	T	A43093601T	BRCA1	NM_007294.4(BRCA1):c.1929_1930delinsA:p.Ser643fs	coding	Pathogenic
17	43093607	C	CA	T43093610A	BRCA1	NM_007294.4(BRCA1):c.1923dup:p.Asp642Ter	coding	Pathogenic
17	43093609	A	AT	G43093613T	BRCA1	NM_007294.4(BRCA1):c.1921dup:p.Ile641fs	coding	Pathogenic
17	43093609	AT	A	T43093612G	BRCA1	NM_007294.4(BRCA1):c.1921del:p.Ile641fs	coding	Pathogenic
17	43093618	TC	T	C43093619A	BRCA1	NM_007294.4(BRCA1):c.1912del:p.Glu638fs	coding	Pathogenic
17	43093619	CAGTA	C	A43093620C	BRCA1	NM_007294.4(BRCA1):c.1908_1911del:p.Cys636fs	coding	Pathogenic
17	43093620	AGTACAATTAG	A	A43093623G	BRCA1	NM_007294.4(BRCA1):c.1901_1910del:p.Pro634fs	coding	Pathogenic
17	43093621	GTACAA	G	A43093623T	BRCA1	NM_007294.4(BRCA1):c.1905_1909del:p.Asn635_Cys636insTer	coding	Pathogenic
17	43093624	CA	C	A43093626T	BRCA1	NM_007294.4(BRCA1):c.1906del:p.Cys636fs	coding	Pathogenic
17	43093628	T	TA	G43093630A	BRCA1	NM_007294.4(BRCA1):c.1902dup:p.Asn635Ter	coding	Pathogenic
17	43093630	G	GGTGGGCTTAGATTT	C43093645G	BRCA1	NM_007294.4(BRCA1):c.1887_1900dup:p.Pro634delinsGlnIleTer	coding	Pathogenic
17	43093632	TG	T	G43093635C	BRCA1	NM_007294.4(BRCA1):c.1898del:p.Pro633fs	coding	Pathogenic
17	43093636	C	CA	T43093637A	BRCA1	NM_007294.4(BRCA1):c.1894_1895insT:p.Ser632fs	coding	Pathogenic
17	43093637	T	TA	T43093638A	BRCA1	NM_007294.4(BRCA1):c.1893_1894insT:p.Ser632Ter	coding	Pathogenic
17	43093638	T	TA	G43093640A	BRCA1	NM_007294.3(BRCA1):c.1892dupT:p.Ser632Lysfs	coding	Pathogenic
17	43093641	AT	A	T43093644C	BRCA1	NM_007294.4(BRCA1):c.1889del:p.Asn630fs	coding	Pathogenic
17	43093645	CT	C	T43093646A	BRCA1	NM_007294.4(BRCA1):c.1885del:p.Arg629fs	coding	Pathogenic
17	43093646	TACTG	T	G43093650A	BRCA1	NM_007294.4(BRCA1):c.1881_1884del:p.Ser628fs	coding	Pathogenic
17	43093648	C	CGG	T43093649G	BRCA1	NM_007294.4(BRCA1):c.1882_1883insCC:p.Ser628fs	coding	Pathogenic
17	43093649	T	TGG	A43093651G	BRCA1	NM_007294.4(BRCA1):c.1881_1882insCC:p.Ser628fs	coding	Pathogenic
17	43093650	G	GAACT	C43093652A	BRCA1	NM_007294.4(BRCA1):c.1880_1881insAGTT:p.Ser628fs	coding	Pathogenic
17	43093652	C	CACTA	T43093653A	BRCA1	NM_007294.4(BRCA1):c.1878_1879insTAGT:p.Val627Ter	coding	Pathogenic
17	43093653	T	TACTA	G43093658A	BRCA1	NM_007294.3(BRCA1):c.1874_1877dupTAGT:p.Val627Serfs	coding	Pathogenic
17	43093655	CT	C	T43093656A	BRCA1	NM_007294.4(BRCA1):c.1875del:p.Leu625_Val626insTer	coding	Pathogenic
17	43093670	GA	G	A43093672T	BRCA1	NM_007294.4(BRCA1):c.1860del:p.His621fs	coding	Pathogenic
17	43093675	TG	T	G43093676C	BRCA1	NM_007294.4(BRCA1):c.1855del:p.His619fs	coding	Pathogenic
17	43093676	GC	G	C43093678T	BRCA1	NM_007294.4(BRCA1):c.1854del:p.Arg618fs	coding	Pathogenic
17	43093682	TAGA	T	A43093686C	BRCA1	NM_007294.4(BRCA1):c.1843_1845TCT[1]:p.Ser616del	coding	Benign
17	43093683	AG	A	G43093684A	BRCA1	NM_007294.4(BRCA1):c.1847del:p.Ser616fs	coding	Pathogenic
17	43093684	GAA	G	A43093685G	BRCA1	NM_007294.4(BRCA1):c.1845_1846del:p.Ser616fs	coding	Pathogenic
17	43093684	G	GA	G43093687A	BRCA1	NM_007294.4(BRCA1):c.1846dup:p.Ser616fs	coding	Pathogenic
17	43093685	A	AC	A43093686C	BRCA1	NM_007294.4(BRCA1):c.1845_1846insG:p.Ser616fs	coding	Pathogenic
17	43093686	A	AC	G43093687C	BRCA1	NM_007294.4(BRCA1):c.1844_1845insG:p.Ser616fs	coding	Pathogenic
17	43093687	G	GAC	T43093690A	BRCA1	NM_007294.4(BRCA1):c.1842_1843dup:p.Ser615fs	coding	Pathogenic
17	43093690	TTC	T	T43093691C	BRCA1	NM_007294.4(BRCA1):c.1839_1840del:p.Lys614fs	coding	Pathogenic
17	43093693	CT	C	T43093694C	BRCA1	NM_007294.4(BRCA1):c.1837del:p.Arg613fs	coding	Pathogenic
17	43093694	T	TC	T43093697C	BRCA1	NM_007294.4(BRCA1):c.1836dup:p.Arg613fs	coding	Pathogenic
17	43093699	AG	A	G43093700C	BRCA1	NM_007294.4(BRCA1):c.1831del:p.Arg610_Leu611insTer	coding	Pathogenic
17	43093704	AT	A	T43093706C	BRCA1	NM_007294.4(BRCA1):c.1826del:p.Asn609fs	coding	Pathogenic
17	43093704	ATTCT	A	C43093707T	BRCA1	NM_007294.3(BRCA1):c.1823_1826delAGAA:p.Lys608Ilefs	coding	Pathogenic
17	43093707	CT	C	T43093712A	BRCA1	NM_007294.4(BRCA1):c.1823del:p.Lys608fs	coding	Pathogenic
17	43093707	CTTTT	C	T43093709A	BRCA1	NM_007294.4(BRCA1):c.1820_1823del:p.Lys607fs	coding	Pathogenic
17	43093713	AG	A	G43093715T	BRCA1	NM_007294.4(BRCA1):c.1817del:p.Pro606fs	coding	Pathogenic
17	43093718	CT	C	T43093722G	BRCA1	NM_007294.4(BRCA1):c.1812del:p.Ala605fs	coding	Pathogenic
17	43093725	AT	A	T43093727G	BRCA1	NM_007294.4(BRCA1):c.1805del:p.Asn602fs	coding	Pathogenic
17	43093727	TG	T	G43093728T	BRCA1	NM_007294.4(BRCA1):c.1803del:p.His601fs	coding	Pathogenic
17	43093731	GA	G	A43093732T	BRCA1	NM_007294.4(BRCA1):c.1799del:p.Ile600fs	coding	Pathogenic
17	43093732	ATATT	A	T43093735A	BRCA1	NM_007294.4(BRCA1):c.1795_1798del:p.Asn599fs	coding	Pathogenic
17	43093745	GT	G	T43093747C	BRCA1	NM_007294.4(BRCA1):c.1785del:p.Glu595fs	coding	Pathogenic
17	43093745	GTTCCATA	G	C43093748G	BRCA1	NM_007294.4(BRCA1):c.1779_1785del:p.Met594fs	coding	Pathogenic
17	43093749	CATATTGCTTATACTGCTGCTTATAGGTTCAGCTTTCGTTTTGAAAGCAGATTCTTTTTCGAGTGATTCTATTGGGTTAGGATTTTTCTCATTCTGAATAGAATCACCTTTTGTTTTATTCTCATGACCACTATTAGTAATATTCATCACTTGACCATTCTGCTCCGTTTGGTTAGTTCCCTGATTTATCATTTCAGGAGTCTTTTGAACTGCCAAATCTGCTTTCTTGATAAAATCCTCAGGATGAAGGCCTGATGTAGGTCTCCTTTTACGCTTTAATTTATTTGTGAGGGGACGCTCTTGTATTATCTGTGGCTCAGTAACAAATGCTCCTATAATTAGATTTTCAGTTACATGGCTTAAGTTGGGGAGGCTTGCCTTCTTCCGATAGGTTTTCCCAAATATTTTGTCTTCAATATTACTCTCTACTGATTTGGAGTGAACTCTTTCACTTTTACATATTAAAGCCTCATGAGGATCACTGGCCAGTAAGTCTATTTTCTCTGAAGAACCAGAATATTCATCTACCTCATTTAGAACGTCCAATACATCAGCTACTTTGGCATTTGATTCAGACTCCCCATCATGTGAGTCATCAGAACCTAACAGTTCATCACTTCTGGAAAACCACTCATTAACTTTCTGAATGCTGCTATTTAGTGTTATCCAAGGAACATCTTCAGTATCTCTAGGATTCTCTGAGCATGGCAGTTTCTGCTTATTCCATTCTTTTCTCTCACACAGGGGATCAGCATTCAGATCTACCTTTTTTTCTGTGCTGGGAGTCCGCCTATCATTACATGTTTCCTTACTTCCAGCCCATCTGTTATGTTGGCTCCTTGCTAAGCCAGGCTGTTTGCTTTTATTACAGAATTCAGCCTTTTCTACATTCATTCTGTCTTTAGTGAGTAATAAACTGCTGTTCTCATGCTGTAATGAGCTGGCATGAGTATTTGTGCCACATGGCTCCACATGCAAGTTTGAAACAGAACTACCCTGATACTTTTCTGGATGCCTCTCAGCTGCACGCTTCTCAGTGGTGTTCAAATCATTATTACTGGGTTGATGATGTTCAGTATTTGTTACATCCGTCTCAGAAAATTCACAAGCAGCTGAAAATATACAAAAATAACAAGGT	C	T43093751C	BRCA1	NM_007294.3(BRCA1):c.671-26_1781del	coding	Pathogenic
17	43093750	AT	A	T43093751A	BRCA1	NM_007294.4(BRCA1):c.1780del:p.Met594fs	coding	Pathogenic
17	43093758	TA	T	A43093759T	BRCA1	NM_007294.4(BRCA1):c.1772del:p.Ile591fs	coding	Pathogenic
17	43093761	ACT	G	A43093761G	BRCA1	NM_007294.4(BRCA1):c.1768_1770delinsC:p.Ser590fs	coding	Pathogenic
17	43093765	CT	C	T43093766G	BRCA1	NM_007294.4(BRCA1):c.1765del:p.Ser589fs	coding	Pathogenic
17	43093766	TGC	T	G43093767T	BRCA1	NM_007294.4(BRCA1):c.1763_1764del:p.Ser588fs	coding	Pathogenic
17	43093768	C	CT	A43093771T	BRCA1	NM_007294.4(BRCA1):c.1762dup:p.Ser588fs	coding	Pathogenic
17	43093768	CTTAT	C	T43093769A	BRCA1	NM_007294.4(BRCA1):c.1759_1762del:p.Ile587fs	coding	Pathogenic
17	43093770	T	TA	T43093772A	BRCA1	NM_007294.4(BRCA1):c.1760dup:p.Ser588fs	coding	Pathogenic
17	43093771	ATAG	TC	A43093771T	BRCA1	NM_007294.4(BRCA1):c.1757_1760delinsGA:p.Pro586fs	coding	Pathogenic
17	43093771	AT	A	T43093772A	BRCA1	NM_007294.4(BRCA1):c.1759del:p.Pro586_Ile587insTer	coding	Pathogenic
17	43093773	AG	A	G43093775T	BRCA1	NM_007294.4(BRCA1):c.1757del:p.Pro586fs	coding	Pathogenic
17	43093775	GTTCAGCT	G	A43093779G	BRCA1	NM_007294.4(BRCA1):c.1749_1755del:p.Lys583fs	coding	Pathogenic
17	43093785	CG	C	G43093786T	BRCA1	NM_007294.4(BRCA1):c.1745del:p.Thr582fs	coding	Pathogenic
17	43093786	GT	G	T43093790G	BRCA1	NM_007294.4(BRCA1):c.1744del:p.Thr582fs	coding	Pathogenic
17	43093796	CAG	C	G43093798T	BRCA1	NM_007294.4(BRCA1):c.1733_1734del:p.Ser578fs	coding	Pathogenic
17	43093799	A	AT	C43093802T	BRCA1	NM_007294.4(BRCA1):c.1731dup:p.Ser578fs	coding	Pathogenic
17	43093800	TTC	T	C43093802T	BRCA1	NM_007294.4(BRCA1):c.1729_1730del:p.Glu577fs	coding	Pathogenic
17	43093802	C	CT	C43093808T	BRCA1	NM_007294.4(BRCA1):c.1728dup:p.Glu577fs	coding	Pathogenic
17	43093804	T	TC	T43093805C	BRCA1	NM_007294.4(BRCA1):c.1726_1727insG:p.Lys576fs	coding	Pathogenic
17	43093805	T	TC	T43093806C	BRCA1	NM_007294.4(BRCA1):c.1725_1726insG:p.Lys576fs	coding	Pathogenic
17	43093807	T	TC	G43093809C	BRCA1	NM_007294.4(BRCA1):c.1723dup:p.Glu575fs	coding	Pathogenic
17	43093813	GATTCT	G	C43093817G	BRCA1	NM_007294.4(BRCA1):c.1713_1717del:p.Glu572fs	coding	Pathogenic
17	43093814	A	AT	C43093817T	BRCA1	NM_007294.4(BRCA1):c.1716dup:p.Ser573fs	coding	Pathogenic
17	43093814	AT	A	T43093816C	BRCA1	NM_007294.4(BRCA1):c.1716del:p.Glu572fs	coding	Pathogenic
17	43093830	A	AT	C43093836T	BRCA1	NM_007294.4(BRCA1):c.1700dup:p.Asn567fs	coding	Pathogenic
17	43093830	AT	A	T43093835C	BRCA1	NM_007294.4(BRCA1):c.1700del:p.Asn567fs	coding	Pathogenic
17	43093835	T	TC	T43093837C	BRCA1	NM_007294.4(BRCA1):c.1695dup:p.Lys566fs	coding	Pathogenic
17	43093839	AT	A	T43093841C	BRCA1	NM_007294.4(BRCA1):c.1691del:p.Asn564fs	coding	Pathogenic
17	43093845	A	ACTTTC	A43093846C	BRCA1	NM_007294.4(BRCA1):c.1685_1686insGAAAG:p.Ile562fs	coding	Pathogenic
17	43093846	A	AT	A43093848T	BRCA1	NM_007294.4(BRCA1):c.1684dup:p.Ile562fs	coding	Pathogenic
17	43093846	ATAGAATCACCTTTTGTTTTATTCTCATGACCACTATTAGTAATATTCA	CTTTC	A43093846C	BRCA1	NM_007294.4(BRCA1):c.1637_1685delinsGAAAG:p.Met546fs	coding	Pathogenic
17	43093852	TCA	T	A43093854C	BRCA1	NM_007294.4(BRCA1):c.1677_1678del:p.Asp560fs	coding	Pathogenic
17	43093854	AC	A	C43093856T	BRCA1	NM_007294.4(BRCA1):c.1676del:p.Gly559fs	coding	Pathogenic
17	43093856	C	CT	G43093861T	BRCA1	NM_007294.4(BRCA1):c.1674dup:p.Gly559fs	coding	Pathogenic
17	43093856	CT	C	T43093860G	BRCA1	NM_007294.4(BRCA1):c.1674del:p.Gly559fs	coding	Pathogenic
17	43093856	CTT	C	T43093859G	BRCA1	NM_007294.4(BRCA1):c.1673_1674del:p.Lys558fs	coding	Pathogenic
17	43093857	TTTTG	T	G43093861T	BRCA1	NM_007294.4(BRCA1):c.1670_1673del:p.Thr557fs	coding	Pathogenic
17	43093861	GT	G	T43093865A	BRCA1	NM_007294.4(BRCA1):c.1669del:p.Thr557fs	coding	Pathogenic
17	43093876	CCACTATTAGTAATATTCAT	C	A43093881T	BRCA1	NM_007294.4(BRCA1):c.1636_1654del:p.Met546fs	coding	Pathogenic
17	43093878	A	AG	C43093879G	BRCA1	NM_007294.4(BRCA1):c.1652_1653insC:p.Gly552fs	coding	Pathogenic
17	43093879	C	CG	T43093880G	BRCA1	NM_007294.4(BRCA1):c.1651_1652insC:p.Ser551fs	coding	Pathogenic
17	43093880	TA	T	A43093881T	BRCA1	NM_007294.4(BRCA1):c.1650del:p.Asn550fs	coding	Pathogenic
17	43093880	T	TA	T43093882A	BRCA1	NM_007294.4(BRCA1):c.1650dup:p.Ser551Ter	coding	Pathogenic
17	43093881	AT	A	T43093883A	BRCA1	NM_007294.4(BRCA1):c.1649del:p.Asn550fs	coding	Pathogenic
17	43093885	GTAATATTC	T	G43093885T	BRCA1	NM_007294.4(BRCA1):c.1638_1646delinsA:p.Met546fs	coding	Pathogenic
17	43093887	AAT	A	A43093890T	BRCA1	NM_007294.4(BRCA1):c.1640_1641AT[1]:p.Ile548fs	coding	Pathogenic
17	43093889	T	TC	A43093890C	BRCA1	NM_007294.4(BRCA1):c.1641_1642insG:p.Ile548fs	coding	Pathogenic
17	43093902	AC	A	C43093904A	BRCA1	NM_007294.4(BRCA1):c.1628del:p.Gly543fs	coding	Pathogenic
17	43093904	CATTCT	C	A43093905G	BRCA1	NM_007294.4(BRCA1):c.1622_1626del:p.Gln541fs	coding	Pathogenic
17	43093905	ATTCTGCTCCG	A	C43093908T	BRCA1	NM_007294.4(BRCA1):c.1616_1625del:p.Thr539fs	coding	Pathogenic
17	43093907	T	TC	T43093909C	BRCA1	NM_007294.4(BRCA1):c.1623dup:p.Asn542fs	coding	Pathogenic
17	43093912	TC	T	C43093914G	BRCA1	NM_007294.4(BRCA1):c.1618del:p.Glu540fs	coding	Pathogenic
17	43093914	CGTTTG	C	T43093918A	BRCA1	NM_007294.4(BRCA1):c.1612_1616del:p.Gln538fs	coding	Pathogenic
17	43093919	GGTTA	G	A43093923C	BRCA1	NM_007294.4(BRCA1):c.1608_1611del:p.Asn537fs	coding	Pathogenic
17	43093924	GTTCCCTGATT	G	T43093926A	BRCA1	NM_007294.4(BRCA1):c.1597_1606del:p.Asn533fs	coding	Pathogenic
17	43093928	CCT	C	C43093929G	BRCA1	NM_007294.4(BRCA1):c.1601_1602del:p.Gln534fs	coding	Pathogenic
17	43093929	C	CT	G43093931T	BRCA1	NM_007294.4(BRCA1):c.1601dup:p.Thr536fs	coding	Pathogenic
17	43093929	CTGATTTA	C	G43093931C	BRCA1	NM_007294.4(BRCA1):c.1595_1601del:p.Ile532fs	coding	Pathogenic
17	43093930	TG	T	G43093931A	BRCA1	NM_007294.4(BRCA1):c.1600del:p.Gln534fs	coding	Pathogenic
17	43093941	TTCAGGAG	T	A43093944T	BRCA1	NM_007294.4(BRCA1):c.1583_1589del:p.Thr528fs	coding	Pathogenic
17	43093950	CTT	C	T43093953G	BRCA1	NM_007294.4(BRCA1):c.1579_1580del:p.Lys527fs	coding	Pathogenic
17	43093953	TTG	T	T43093954A	BRCA1	NM_007294.4(BRCA1):c.1576_1577del:p.Gln526fs	coding	Pathogenic
17	43093955	GA	G	A43093957C	BRCA1	NM_007294.4(BRCA1):c.1575del:p.Gln526fs	coding	Pathogenic
17	43093955	G	GA	C43093958A	BRCA1	NM_007294.4(BRCA1):c.1575dup:p.Gln526fs	coding	Pathogenic
17	43093960	GC	G	C43093962A	BRCA1	NM_007294.4(BRCA1):c.1570del:p.Ala524fs	coding	Pathogenic
17	43093962	CA	C	A43093965T	BRCA1	NM_007294.4(BRCA1):c.1568del:p.Leu523fs	coding	Pathogenic
17	43093964	A	AG	A43093965G	BRCA1	NM_007294.4(BRCA1):c.1566_1567insC:p.Ala524fs	coding	Pathogenic
17	43093967	CTGC	TTTA	C43093967T	BRCA1	NM_007294.4(BRCA1):c.1561_1564delinsTAAA:p.Ala521_Asp522delinsTer	coding	Pathogenic
17	43093969	GC	TA	G43093969T	BRCA1	NM_007294.4(BRCA1):c.1561_1562delinsTA:p.Ala521Ter	coding	Pathogenic
17	43093974	CT	C	T43093976G	BRCA1	NM_007294.4(BRCA1):c.1556del:p.Lys519fs	coding	Pathogenic
17	43093979	TA	T	A43093983T	BRCA1	NM_007294.4(BRCA1):c.1551del:p.Phe517fs	coding	Pathogenic
17	43093981	AAATCCTCA	CG	A43093981C	BRCA1	NM_007294.4(BRCA1):c.1542_1550delinsCG:p.Glu515fs	coding	Pathogenic
17	43093999	CCTGATGTAGGT	C	G43094002C	BRCA1	NM_007294.4(BRCA1):c.1521_1531del:p.Thr509fs	coding	Pathogenic
17	43094000	CT	C	T43094001G	BRCA1	NM_007294.4(BRCA1):c.1530del:p.Gly511fs	coding	Pathogenic
17	43094007	AG	A	G43094009T	BRCA1	NM_007294.4(BRCA1):c.1523del:p.Pro508fs	coding	Pathogenic
17	43094009	GTCTCC	G	C43094011T	BRCA1	NM_007294.4(BRCA1):c.1517_1521del:p.Arg506fs	coding	Pathogenic
17	43094012	TC	T	C43094014T	BRCA1	NM_007294.4(BRCA1):c.1518del:p.Arg507fs	coding	Pathogenic
17	43094016	T	TA	T43094017A	BRCA1	NM_007294.4(BRCA1):c.1514_1515insT:p.Lys505fs	coding	Pathogenic
17	43094017	T	TA	T43094018A	BRCA1	NM_007294.4(BRCA1):c.1513_1514insT:p.Lys505fs	coding	Pathogenic
17	43094018	T	TA	C43094020A	BRCA1	NM_007294.4(BRCA1):c.1512dup:p.Lys505Ter	coding	Pathogenic
17	43094019	A	AC	G43094021C	BRCA1	NM_007294.3(BRCA1):c.1511dupG:p.Lys505Terfs	coding	Pathogenic
17	43094020	CG	C	G43094021C	BRCA1	NM_007294.4(BRCA1):c.1510del:p.Arg504fs	coding	Pathogenic
17	43094020	CGCTTT	C	G43094021A	BRCA1	NM_007294.4(BRCA1):c.1506_1510del:p.Leu502_Lys503insTer	coding	Pathogenic
17	43094021	GCTTTAATTTATTT	G	C43094022G	BRCA1	NM_007294.4(BRCA1):c.1497_1509del:p.Asn500fs	coding	Pathogenic
17	43094021	GCTTTA	G	C43094022A	BRCA1	NM_007294.4(BRCA1):c.1505_1509del:p.Leu502fs	coding	Pathogenic
17	43094022	C	CTTTAATTTAT	G43094035T	BRCA1	NM_007294.4(BRCA1):c.1499_1508dup:p.Arg504_Lys505insTer	coding	Pathogenic
17	43094022	CT	C	T43094025A	BRCA1	NM_007294.4(BRCA1):c.1508del:p.Lys503fs	coding	Pathogenic
17	43094022	CTTTAA	C	A43094027T	BRCA1	NM_007294.4(BRCA1):c.1504_1508del:p.Leu502fs	coding	Pathogenic
17	43094023	TTTAA	T	A43094026T	BRCA1	NM_007294.4(BRCA1):c.1504_1507del:p.Leu502fs	coding	Pathogenic
17	43094025	TA	T	A43094027T	BRCA1	NM_007294.4(BRCA1):c.1505del:p.Lys501_Leu502insTer	coding	Pathogenic
17	43094026	AATTT	A	A43094031G	BRCA1	NM_007294.4(BRCA1):c.1497_1500AAAT[1]:p.Asn500_Lys501insTer	coding	Pathogenic
17	43094031	AT	A	T43094034G	BRCA1	NM_007294.4(BRCA1):c.1499del:p.Asn500fs	coding	Pathogenic
17	43094032	TTTGTGAGGGGACGCTC	T	G43094037A	BRCA1	NM_007294.4(BRCA1):c.1483_1498del:p.Glu495fs	coding	Pathogenic
17	43094038	AG	A	G43094042A	BRCA1	NM_007294.4(BRCA1):c.1492del:p.Leu498fs	coding	Pathogenic
17	43094042	GA	G	A43094043C	BRCA1	NM_007294.4(BRCA1):c.1488del:p.Leu498fs	coding	Pathogenic
17	43094050	T	TG	T43094052G	BRCA1	NM_007294.4(BRCA1):c.1480dup:p.Gln494fs	coding	Pathogenic
17	43094053	AT	A	T43094055A	BRCA1	NM_007294.4(BRCA1):c.1477del:p.Ile493fs	coding	Pathogenic
17	43094068	G	GT	A43094070T	BRCA1	NM_007294.4(BRCA1):c.1462dup:p.Thr488fs	coding	Pathogenic
17	43094077	G	GCTCCTATAATTAGATTTTCAGTTACATGGCTTAAGTTGGGGAGGCTTGCCTTCTT	C43094134T	BRCA1	NM_007294.4(BRCA1):c.1399_1453dup:p.Ala485delinsGluGluGlyLysProProGlnLeuLysProCysAsnTer	coding	Pathogenic
17	43094083	A	ATAAT	G43094090A	BRCA1	NM_007294.4(BRCA1):c.1444_1447dup:p.Ile483fs	coding	Pathogenic
17	43094083	ATAAT	A	A43094086G	BRCA1	NM_007294.4(BRCA1):c.1444_1447del:p.Leu481_Ile482insTer	coding	Pathogenic
17	43094086	AT	A	T43094088A	BRCA1	NM_007294.4(BRCA1):c.1444del:p.Ile482fs	coding	Pathogenic
17	43094089	A	AT	G43094090T	BRCA1	NM_007294.4(BRCA1):c.1441_1442insA:p.Leu481fs	coding	Pathogenic
17	43094090	G	GT	A43094091T	BRCA1	NM_007294.4(BRCA1):c.1440_1441insA:p.Leu481fs	coding	Pathogenic
17	43094091	A	AT	C43094096T	BRCA1	NM_007294.3(BRCA1):c.1439dupA:p.Asn480Lysfs	coding	Pathogenic
17	43094093	TTTCAGTTACA	T	T43094095G	BRCA1	NM_007294.4(BRCA1):c.1428_1437del:p.His476fs	coding	Pathogenic
17	43094095	TCA	T	C43094096G	BRCA1	NM_007294.4(BRCA1):c.1434_1435del:p.Glu479fs	coding	Pathogenic
17	43094096	CA	C	A43094097G	BRCA1	NM_007294.4(BRCA1):c.1434del:p.Glu479fs	coding	Pathogenic
17	43094108	TTAAG	T	A43094110T	BRCA1	NM_007294.4(BRCA1):c.1419_1422del:p.Asn473fs	coding	Pathogenic
17	43094114	TG	T	G43094118A	BRCA1	NM_007294.4(BRCA1):c.1416del:p.Asn473fs	coding	Pathogenic
17	43094118	G	GA	G43094120A	BRCA1	NM_007294.4(BRCA1):c.1412dup:p.Asn473fs	coding	Pathogenic
17	43094122	CTT	C	T43094123G	BRCA1	NM_007294.4(BRCA1):c.1407_1408del:p.Ser470fs	coding	Pathogenic
17	43094125	GC	G	C43094127T	BRCA1	NM_007294.4(BRCA1):c.1405del:p.Ala469fs	coding	Pathogenic
17	43094127	CT	C	T43094129C	BRCA1	NM_007294.4(BRCA1):c.1403del:p.Lys468fs	coding	Pathogenic
17	43094132	TC	T	C43094134G	BRCA1	NM_007294.4(BRCA1):c.1398del:p.Lys467fs	coding	Pathogenic
17	43094135	G	GA	T43094137A	BRCA1	NM_007294.4(BRCA1):c.1395dup:p.Arg466fs	coding	Pathogenic
17	43094137	T	TA	G43094139A	BRCA1	NM_007294.4(BRCA1):c.1393dup:p.Tyr465fs	coding	Pathogenic
17	43094137	T	TAGGTTTTCCC	A43094149G	BRCA1	NM_007294.4(BRCA1):c.1384_1393dup:p.Tyr465fs	coding	Pathogenic
17	43094138	A	AC	G43094139C	BRCA1	NM_007294.4(BRCA1):c.1392_1393insG:p.Tyr465fs	coding	Pathogenic
17	43094138	A	AG	T43094141G	BRCA1	NM_007294.4(BRCA1):c.1392dup:p.Tyr465fs	coding	Pathogenic
17	43094138	AG	A	G43094140T	BRCA1	NM_007294.4(BRCA1):c.1392del:p.Tyr465fs	coding	Pathogenic
17	43094139	G	GC	G43094140C	BRCA1	NM_007294.4(BRCA1):c.1391_1392insG:p.Tyr465fs	coding	Pathogenic
17	43094140	G	GC	T43094141C	BRCA1	NM_007294.4(BRCA1):c.1390_1391insG:p.Thr464fs	coding	Pathogenic
17	43094140	G	GT	C43094145T	BRCA1	NM_007294.4(BRCA1):c.1390dup:p.Thr464fs	coding	Pathogenic
17	43094140	GT	G	T43094144C	BRCA1	NM_007294.4(BRCA1):c.1390del:p.Thr464fs	coding	Pathogenic
17	43094141	TT	C	T43094141C	BRCA1	NM_007294.4(BRCA1):c.1389_1390delinsG:p.Thr464fs	coding	Pathogenic
17	43094141	TTTT	CTTTC	T43094141C	BRCA1	NM_007294.4(BRCA1):c.1387_1390delinsGAAAG:p.Lys463fs	coding	Pathogenic
17	43094144	T	CC	T43094144C	BRCA1	NM_007294.4(BRCA1):c.1387delinsGG:p.Lys463fs	coding	Pathogenic
17	43094144	TC	T	C43094147A	BRCA1	NM_007294.4(BRCA1):c.1386del:p.Thr464fs	coding	Pathogenic
17	43094144	T	TC	A43094148C	BRCA1	NM_007294.4(BRCA1):c.1386dup:p.Lys463fs	coding	Pathogenic
17	43094147	CA	C	A43094150T	BRCA1	NM_007294.4(BRCA1):c.1383del:p.Phe461fs	coding	Pathogenic
17	43094147	C	CA	T43094151A	BRCA1	NM_007294.4(BRCA1):c.1383dup:p.Gly462fs	coding	Pathogenic
17	43094150	A	AT	A43094152T	BRCA1	NM_007294.4(BRCA1):c.1380dup:p.Phe461fs	coding	Pathogenic
17	43094150	AT	A	T43094151A	BRCA1	NM_007294.4(BRCA1):c.1380del:p.Phe461fs	coding	Pathogenic
17	43094151	TA	T	A43094152T	BRCA1	NM_007294.4(BRCA1):c.1379del:p.Ile460fs	coding	Pathogenic
17	43094152	A	AT	G43094157T	BRCA1	NM_007294.4(BRCA1):c.1378dup:p.Ile460fs	coding	Pathogenic
17	43094152	ATT	A	T43094155G	BRCA1	NM_007294.4(BRCA1):c.1377_1378del:p.Lys459fs	coding	Pathogenic
17	43094156	TG	T	G43094157T	BRCA1	NM_007294.4(BRCA1):c.1374del:p.Asp458fs	coding	Pathogenic
17	43094159	CT	C	T43094161C	BRCA1	NM_007294.4(BRCA1):c.1371del:p.Asp458fs	coding	Pathogenic
17	43094166	A	ATC	T43094168C	BRCA1	NM_007294.4(BRCA1):c.1364_1365insGA:p.Asn455fs	coding	Pathogenic
17	43094167	T	TA	T43094168A	BRCA1	NM_007294.4(BRCA1):c.1363_1364insT:p.Asn455fs	coding	Pathogenic
17	43094169	AC	A	C43094170T	BRCA1	NM_007294.4(BRCA1):c.1361del:p.Ser454fs	coding	Pathogenic
17	43094169	ACT	A	C43094174A	BRCA1	NM_007294.4(BRCA1):c.1356_1357AG[2]:p.Glu453_Ser454insTer	coding	Pathogenic
17	43094174	CT	C	T43094175A	BRCA1	NM_007294.4(BRCA1):c.1356del:p.Glu453fs	coding	Pathogenic
17	43094176	AC	A	C43094177T	BRCA1	NM_007294.4(BRCA1):c.1354del:p.Ser451_Val452insTer	coding	Pathogenic
17	43094183	TG	T	G43094185A	BRCA1	NM_007294.4(BRCA1):c.1347del:p.Lys450fs	coding	Pathogenic
17	43094185	GAGTGAACTCTTTCACTTTT	G	G43094187C	BRCA1	NM_007294.4(BRCA1):c.1327_1345del:p.Lys443fs	coding	Pathogenic
17	43094189	GAA	G	A43094190C	BRCA1	NM_007294.4(BRCA1):c.1340_1341del:p.Val447fs	coding	Pathogenic
17	43094189	G	GC	A43094190C	BRCA1	NM_007294.4(BRCA1):c.1341_1342insG:p.His448fs	coding	Pathogenic
17	43094190	A	AC	A43094191C	BRCA1	NM_007294.4(BRCA1):c.1340_1341insG:p.His448fs	coding	Pathogenic
17	43094191	A	AC	T43094193C	BRCA1	NM_007294.4(BRCA1):c.1339dup:p.Val447fs	coding	Pathogenic
17	43094194	C	CT	C43094198T	BRCA1	NM_007294.4(BRCA1):c.1336dup:p.Arg446fs	coding	Pathogenic
17	43094194	CT	C	T43094197C	BRCA1	NM_007294.4(BRCA1):c.1336del:p.Arg446fs	coding	Pathogenic
17	43094194	CTT	C	T43094196C	BRCA1	NM_007294.4(BRCA1):c.1335_1336del:p.Arg446fs	coding	Pathogenic
17	43094197	TC	T	C43094198A	BRCA1	NM_007294.4(BRCA1):c.1333del:p.Glu445fs	coding	Pathogenic
17	43094200	CT	C	T43094204A	BRCA1	NM_007294.4(BRCA1):c.1330del:p.Ser444fs	coding	Pathogenic
17	43094204	T	TAC	T43094208C	BRCA1	NM_007294.4(BRCA1):c.1325_1326dup:p.Lys443fs	coding	Pathogenic
17	43094206	CAT	C	A43094209T	BRCA1	NM_007294.4(BRCA1):c.1321_1322AT[1]:p.Ile441fs	coding	Pathogenic
17	43094207	A	AT	A43094209T	BRCA1	NM_007294.4(BRCA1):c.1323dup:p.Cys442fs	coding	Pathogenic
17	43094209	A	AT	A43094212T	BRCA1	NM_007294.4(BRCA1):c.1321dup:p.Ile441fs	coding	Pathogenic
17	43094211	TA	T	A43094214G	BRCA1	NM_007294.4(BRCA1):c.1319del:p.Ala439_Leu440insTer	coding	Pathogenic
17	43094211	T	TA	G43094215A	BRCA1	NM_007294.4(BRCA1):c.1319dup:p.Leu440fs	coding	Pathogenic
17	43094215	G	GC	T43094218C	BRCA1	NM_007294.4(BRCA1):c.1315dup:p.Ala439fs	coding	Pathogenic
17	43094217	CTCAT	C	T43094218G	BRCA1	NM_007294.4(BRCA1):c.1310_1313del:p.His437fs	coding	Pathogenic
17	43094222	GAGGATC	ACTTT	G43094222A	BRCA1	NM_007294.4(BRCA1):c.1303_1309delinsAAAGT:p.Asp435fs	coding	Pathogenic
17	43094229	A	ACTGGCCAGTAAGTCTATTTTCTCTGAAGAAC	A43094262T	BRCA1	NM_007294.4(BRCA1):c.1271_1301dup:p.Ser434fs	coding	Pathogenic
17	43094231	T	TG	C43094234G	BRCA1	NM_007294.4(BRCA1):c.1299dup:p.Ser434fs	coding	Pathogenic
17	43094233	GC	G	C43094235A	BRCA1	NM_007294.4(BRCA1):c.1297del:p.Ala433fs	coding	Pathogenic
17	43094235	CAGTA	C	A43094239C	BRCA1	NM_007294.4(BRCA1):c.1292_1295del:p.Leu431fs	coding	Pathogenic
17	43094236	AGT	TC	A43094236T	BRCA1	NM_007294.4(BRCA1):c.1293_1295delinsGA:p.Leu432fs	coding	Pathogenic
17	43094237	G	GT	A43094239T	BRCA1	NM_007294.4(BRCA1):c.1293dup:p.Leu432fs	coding	Pathogenic
17	43094238	TAAGTCTATTTTCTCTG	T	T43094242A	BRCA1	NM_007294.4(BRCA1):c.1277_1292del:p.Ser426fs	coding	Pathogenic
17	43094238	TA	T	A43094240G	BRCA1	NM_007294.4(BRCA1):c.1292del:p.Leu431fs	coding	Pathogenic
17	43094238	T	TA	G43094241A	BRCA1	NM_007294.3(BRCA1):c.1292dupT:p.Leu431Phefs	coding	Pathogenic
17	43094242	T	TC	T43094244C	BRCA1	NM_007294.4(BRCA1):c.1288dup:p.Asp430fs	coding	Pathogenic
17	43094242	T	TG	C43094243G	BRCA1	NM_007294.4(BRCA1):c.1288_1289insC:p.Asp430fs	coding	Pathogenic
17	43094243	C	CG	T43094244G	BRCA1	NM_007294.4(BRCA1):c.1287_1288insC:p.Asp430fs	coding	Pathogenic
17	43094243	C	CT	A43094245T	BRCA1	NM_007294.3(BRCA1):c.1287dupA:p.Asp430Argfs	coding	Pathogenic
17	43094243	CT	C	T43094244A	BRCA1	NM_007294.4(BRCA1):c.1287del:p.Ile429fs	coding	Pathogenic
17	43094245	AT	A	T43094249C	BRCA1	NM_007294.4(BRCA1):c.1285del:p.Lys428_Ile429insTer	coding	Pathogenic
17	43094253	TG	T	G43094254A	BRCA1	NM_007294.4(BRCA1):c.1277del:p.Ser425_Ser426insTer	coding	Pathogenic
17	43094254	GA	G	A43094256G	BRCA1	NM_007294.4(BRCA1):c.1276del:p.Ser426fs	coding	Pathogenic
17	43094257	G	GA	C43094260A	BRCA1	NM_007294.4(BRCA1):c.1273dup:p.Ser425fs	coding	Pathogenic
17	43094264	A	AAT	T43094269A	BRCA1	NM_007294.4(BRCA1):c.1263_1264AT[3]:p.Ser423fs	coding	Pathogenic
17	43094265	A	AT	A43094267T	BRCA1	NM_007294.3(BRCA1):c.1265dupA:p.Tyr422Terfs	coding	Pathogenic
17	43094273	CT	C	T43094274A	BRCA1	NM_007294.4(BRCA1):c.1257del:p.Asp420fs	coding	Pathogenic
17	43094274	T	TA	C43094276A	BRCA1	NM_007294.4(BRCA1):c.1256dup:p.Asp420fs	coding	Pathogenic
17	43094275	AC	A	C43094277T	BRCA1	NM_007294.4(BRCA1):c.1255del:p.Glu418_Val419insTer	coding	Pathogenic
17	43094277	CT	C	T43094278C	BRCA1	NM_007294.4(BRCA1):c.1253del:p.Glu418fs	coding	Pathogenic
17	43094278	TC	T	C43094279A	BRCA1	NM_007294.4(BRCA1):c.1252del:p.Glu418fs	coding	Pathogenic
17	43094278	T	TC	A43094280C	BRCA1	NM_007294.4(BRCA1):c.1252dup:p.Glu418fs	coding	Pathogenic
17	43094279	CA	T	C43094279T	BRCA1	NM_007294.4(BRCA1):c.1251_1252delinsA:p.Asn417fs	coding	Pathogenic
17	43094284	AGAACGTC	A	G43094285C	BRCA1	NM_007294.4(BRCA1):c.1240_1246del:p.Leu413_Asp414insTer	coding	Pathogenic
17	43094289	G	GT	C43094291T	BRCA1	NM_007294.3(BRCA1):c.1241dupA:p.Asp414Glufs	coding	Pathogenic
17	43094290	TC	T	C43094292A	BRCA1	NM_007294.4(BRCA1):c.1240del:p.Asp414fs	coding	Pathogenic
17	43094290	T	TC	A43094293C	BRCA1	NM_007294.4(BRCA1):c.1240dup:p.Asp414fs	coding	Pathogenic
17	43094296	ACAT	TG	A43094296T	BRCA1	NM_007294.4(BRCA1):c.1232_1235delinsCA:p.Asp411fs	coding	Pathogenic
17	43094297	CAT	C	A43094298C	BRCA1	NM_007294.4(BRCA1):c.1232_1233del:p.Asp411fs	coding	Pathogenic
17	43094300	CA	C	A43094301G	BRCA1	NM_007294.4(BRCA1):c.1230del:p.Asp411fs	coding	Pathogenic
17	43094300	C	CAGCT	C43094306G	BRCA1	NM_007294.4(BRCA1):c.1227_1230dup:p.Asp411delinsSerTer	coding	Pathogenic
17	43094306	CT	C	T43094309G	BRCA1	NM_007294.4(BRCA1):c.1224del:p.Lys408_Val409insTer	coding	Pathogenic
17	43094311	GCATTTGATTCAGACTCCCCATCATGTGAGTCATCAGAACCTAA	G	T43094314G	BRCA1	NM_007294.4(BRCA1):c.1177_1219del:p.Leu393fs	coding	Pathogenic
17	43094312	CATTTGATTCAGACTCCCCATCATGTGAGTCATCAGAACCTAACA	C	A43094313G	BRCA1	NM_007294.4(BRCA1):c.1175_1218del:p.Leu392fs	coding	Pathogenic
17	43094312	C	CT	A43094313T	BRCA1	NM_007294.4(BRCA1):c.1218_1219insA:p.Ala407fs	coding	Pathogenic
17	43094313	A	AT	G43094317T	BRCA1	NM_007294.4(BRCA1):c.1217dup:p.Asn406fs	coding	Pathogenic
17	43094313	AT	A	T43094316G	BRCA1	NM_007294.4(BRCA1):c.1217del:p.Asn406fs	coding	Pathogenic
17	43094314	TTTGATTCAGACTCCCCATCATGTGAGTCATCAGAACCTAACA	T	T43094315G	BRCA1	NM_007294.4(BRCA1):c.1175_1216del:p.Leu392_Asn406delinsHis	coding	Pathogenic
17	43094315	TTGATTCAGACTCCCCATCATGTGAGTCATCAGAACCTAACA	T	T43094316G	BRCA1	NM_007294.4(BRCA1):c.1175_1215del:p.Leu392fs	coding	Pathogenic
17	43094315	TTGATTCAGACTCCCCATCATGTGAGTCATCAGAACCTAAC	T	T43094316A	BRCA1	NM_007294.4(BRCA1):c.1176_1215del:p.Leu393fs	coding	Pathogenic
17	43094316	TGATTCAGACTCCCCATCATGTGAGTCATCAGAACCTAACA	T	A43094318T	BRCA1	NM_007294.4(BRCA1):c.1175_1214del:p.Leu392fs	coding	Pathogenic
17	43094319	T	TAG	T43094320A	BRCA1	NM_007294.4(BRCA1):c.1211_1212insCT:p.Glu404fs	coding	Pathogenic
17	43094320	TCA	T	C43094321G	BRCA1	NM_007294.4(BRCA1):c.1209_1210del:p.Glu404fs	coding	Pathogenic
17	43094320	T	TAG	C43094321A	BRCA1	NM_007294.4(BRCA1):c.1210_1211insCT:p.Glu404fs	coding	Pathogenic
17	43094321	CA	C	A43094322G	BRCA1	NM_007294.4(BRCA1):c.1209del:p.Glu404fs	coding	Pathogenic
17	43094321	C	CA	G43094323A	BRCA1	NM_007294.4(BRCA1):c.1209dup:p.Glu404Ter	coding	Pathogenic
17	43094325	C	CT	C43094327T	BRCA1	NM_007294.4(BRCA1):c.1205dup:p.Ser403fs	coding	Pathogenic
17	43094326	TC	T	C43094330A	BRCA1	NM_007294.4(BRCA1):c.1204del:p.Glu402fs	coding	Pathogenic
17	43094336	G	GT	G43094338T	BRCA1	NM_007294.4(BRCA1):c.1194dup:p.His399fs	coding	Pathogenic
17	43094340	GT	G	T43094341C	BRCA1	NM_007294.4(BRCA1):c.1190del:p.Asp397fs	coding	Pathogenic
17	43094342	CA	C	A43094343T	BRCA1	NM_007294.4(BRCA1):c.1188del:p.Asp396fs	coding	Pathogenic
17	43094350	C	CA	C43094351A	BRCA1	NM_007294.4(BRCA1):c.1180_1181insT:p.Gly394fs	coding	Pathogenic
17	43094350	C	CCT	A43094353C	BRCA1	NM_007294.4(BRCA1):c.1179_1180dup:p.Gly394fs	coding	Pathogenic
17	43094351	C	CA	T43094352A	BRCA1	NM_007294.4(BRCA1):c.1179_1180insT:p.Gly394fs	coding	Pathogenic
17	43094352	TAACA	T	A43094353G	BRCA1	NM_007294.4(BRCA1):c.1175_1178del:p.Leu392fs	coding	Pathogenic
17	43094356	AG	A	G43094357T	BRCA1	NM_007294.4(BRCA1):c.1174del:p.Leu392fs	coding	Pathogenic
17	43094364	AC	A	C43094365T	BRCA1	NM_007294.4(BRCA1):c.1166del:p.Ser389fs	coding	Pathogenic
17	43094365	CT	C	T43094367C	BRCA1	NM_007294.4(BRCA1):c.1165del:p.Ser389fs	coding	Pathogenic
17	43094371	GAA	G	A43094374C	BRCA1	NM_007294.4(BRCA1):c.1158_1159del:p.Ser387fs	coding	Pathogenic
17	43094371	G	GA	C43094376A	BRCA1	NM_007294.4(BRCA1):c.1159dup:p.Ser387fs	coding	Pathogenic
17	43094378	A	AC	T43094380C	BRCA1	NM_007294.4(BRCA1):c.1152dup:p.Trp385fs	coding	Pathogenic
17	43094381	CAT	C	A43094382T	BRCA1	NM_007294.4(BRCA1):c.1148_1149del:p.Asn383fs	coding	Pathogenic
17	43094382	AT	A	T43094384A	BRCA1	NM_007294.4(BRCA1):c.1148del:p.Asn383fs	coding	Pathogenic
17	43094387	CTT	C	T43094389C	BRCA1	NM_007294.4(BRCA1):c.1142_1143del:p.Lys381fs	coding	Pathogenic
17	43094389	TTCTGAATGCTGCTATTTAGTGTTATCCAAGGAACATCTTCAGTATCTCTAGGATTC	T	A43094395G	BRCA1	NM_007294.4(BRCA1):c.1086_1141del:p.Asn363fs	coding	Pathogenic
17	43094390	TC	T	C43094391T	BRCA1	NM_007294.4(BRCA1):c.1140del:p.Val382fs	coding	Pathogenic
17	43094390	T	TC	T43094392C	BRCA1	NM_007294.4(BRCA1):c.1140dup:p.Lys381fs	coding	Pathogenic
17	43094395	ATGCT	A	T43094396G	BRCA1	NM_007294.4(BRCA1):c.1132_1135del:p.Ser378fs	coding	Pathogenic
17	43094397	GC	G	C43094398T	BRCA1	NM_007294.4(BRCA1):c.1133del:p.Ser378fs	coding	Pathogenic
17	43094398	CTGCTATTT	C	T43094399A	BRCA1	NM_007294.4(BRCA1):c.1125_1132del:p.Asn376fs	coding	Pathogenic
17	43094401	C	CT	A43094403T	BRCA1	NM_007294.4(BRCA1):c.1129dup:p.Ser377fs	coding	Pathogenic
17	43094401	CT	C	T43094402A	BRCA1	NM_007294.4(BRCA1):c.1129del:p.Ser377fs	coding	Pathogenic
17	43094403	AT	A	T43094406A	BRCA1	NM_007294.4(BRCA1):c.1127del:p.Asn376fs	coding	Pathogenic
17	43094407	AG	A	G43094408T	BRCA1	NM_007294.4(BRCA1):c.1123del:p.Thr374_Leu375insTer	coding	Pathogenic
17	43094407	AG	T	A43094407T	BRCA1	NM_007294.4(BRCA1):c.1123_1124delinsA:p.Leu375fs	coding	Pathogenic
17	43094407	AGT	A	G43094410T	BRCA1	NM_007294.4(BRCA1):c.1120_1121AC[1]:p.Leu375fs	coding	Pathogenic
17	43094408	GTG	A	G43094408A	BRCA1	NM_007294.4(BRCA1):c.1121_1123delinsT:p.Thr374fs	coding	Pathogenic
17	43094409	TG	T	G43094410T	BRCA1	NM_007294.4(BRCA1):c.1121del:p.Thr374fs	coding	Pathogenic
17	43094418	AG	A	G43094420A	BRCA1	NM_007294.4(BRCA1):c.1112del:p.Pro371fs	coding	Pathogenic
17	43094420	GA	G	A43094422C	BRCA1	NM_007294.4(BRCA1):c.1110del:p.Pro371fs	coding	Pathogenic
17	43094422	ACAT	A	A43094424T	BRCA1	NM_007294.4(BRCA1):c.1106_1108del:p.Asp369del	coding	Benign
17	43094423	C	CAG	T43094425G	BRCA1	NM_007294.4(BRCA1):c.1107_1108insCT:p.Val370fs	coding	Pathogenic
17	43094425	T	TC	T43094427C	BRCA1	NM_007294.4(BRCA1):c.1105dup:p.Asp369fs	coding	Pathogenic
17	43094425	T	TGA	C43094426G	BRCA1	NM_007294.4(BRCA1):c.1105_1106insTC:p.Asp369fs	coding	Pathogenic
17	43094426	CT	C	T43094428C	BRCA1	NM_007294.4(BRCA1):c.1104del:p.Asp369fs	coding	Pathogenic
17	43094428	T	TG	C43094429G	BRCA1	NM_007294.4(BRCA1):c.1102_1103insC:p.Glu368fs	coding	Pathogenic
17	43094429	C	CG	A43094430G	BRCA1	NM_007294.4(BRCA1):c.1101_1102insC:p.Glu368fs	coding	Pathogenic
17	43094430	A	AG	T43094432G	BRCA1	NM_007294.4(BRCA1):c.1100dup:p.Thr367_Glu368insTer	coding	Pathogenic
17	43094431	G	GT	A43094433T	BRCA1	NM_007294.4(BRCA1):c.1099dup:p.Thr367fs	coding	Pathogenic
17	43094438	TAGGATTCTCTG	T	G43094441C	BRCA1	NM_007294.4(BRCA1):c.1082_1092del:p.Cys360_Ser361insTer	coding	Pathogenic
17	43094438	TAG	T	A43094439G	BRCA1	NM_007294.4(BRCA1):c.1091_1092del:p.Pro364fs	coding	Pathogenic/Likely_pathogenic
17	43094439	AG	A	G43094441A	BRCA1	NM_007294.4(BRCA1):c.1091del:p.Pro364fs	coding	Pathogenic
17	43094442	AT	A	T43094444C	BRCA1	NM_007294.4(BRCA1):c.1088del:p.Asn363fs	coding	Pathogenic
17	43094443	TTC	T	C43094447G	BRCA1	NM_007294.4(BRCA1):c.1084_1085GA[1]:p.Asn363fs	coding	Pathogenic
17	43094445	C	CT	C43094447T	BRCA1	NM_007294.4(BRCA1):c.1085dup:p.Asn363fs	coding	Pathogenic
17	43094447	C	CT	G43094449T	BRCA1	NM_007294.4(BRCA1):c.1083dup:p.Glu362fs	coding	Pathogenic
17	43094449	G	GT	A43094450T	BRCA1	NM_007294.4(BRCA1):c.1081_1082insA:p.Ser361fs	coding	Pathogenic
17	43094453	ATGGCAGTTTC	A	G43094456C	BRCA1	NM_007294.4(BRCA1):c.1068_1077del:p.Gln356fs	coding	Pathogenic
17	43094458	AG	A	G43094459T	BRCA1	NM_007294.4(BRCA1):c.1072del:p.Leu358fs	coding	Pathogenic
17	43094459	G	GT	C43094463T	BRCA1	NM_007294.4(BRCA1):c.1071dup:p.Leu358fs	coding	Pathogenic
17	43094463	CT	C	T43094464G	BRCA1	NM_007294.4(BRCA1):c.1067del:p.Gln356fs	coding	Pathogenic
17	43094468	TATTCC	T	C43094473T	BRCA1	NM_007294.4(BRCA1):c.1058_1062del:p.Glu352_Trp353insTer	coding	Pathogenic
17	43094476	TC	T	C43094477T	BRCA1	NM_007294.4(BRCA1):c.1054del:p.Glu352fs	coding	Pathogenic
17	43094480	TTC	T	T43094485A	BRCA1	NM_007294.4(BRCA1):c.1045_1046GA[2]:p.Arg350fs	coding	Pathogenic
17	43094483	TCTCA	T	T43094485A	BRCA1	NM_007294.4(BRCA1):c.1044_1047del:p.Leu347_Cys348insTer	coding	Pathogenic
17	43094485	TCA	T	C43094490G	BRCA1	NM_007294.4(BRCA1):c.1040_1041TG[2]:p.Cys348_Glu349delinsTer	coding	Pathogenic
17	43094485	T	TGTGA	C43094486G	BRCA1	NM_007294.4(BRCA1):c.1045_1046insTCAC:p.Glu349fs	coding	Pathogenic
17	43094486	C	CGTGA	A43094487G	BRCA1	NM_007294.4(BRCA1):c.1044_1045insTCAC:p.Glu349fs	coding	Pathogenic
17	43094489	AC	A	C43094490A	BRCA1	NM_007294.4(BRCA1):c.1041del:p.Cys348fs	coding	Pathogenic
17	43094490	CA	C	A43094491G	BRCA1	NM_007294.4(BRCA1):c.1040del:p.Leu347fs	coding	Pathogenic
17	43094490	CAG	C	A43094491G	BRCA1	NM_007294.4(BRCA1):c.1039_1040del:p.Leu347fs	coding	Pathogenic
17	43094491	AG	A	G43094495A	BRCA1	NM_007294.4(BRCA1):c.1039del:p.Leu347fs	coding	Pathogenic
17	43094499	AG	A	G43094500C	BRCA1	NM_007294.4(BRCA1):c.1031del:p.Ala344fs	coding	Pathogenic
17	43094512	A	AC	T43094515C	BRCA1	NM_007294.4(BRCA1):c.1018dup:p.Val340fs	coding	Pathogenic
17	43094512	A	AT	C43094513T	BRCA1	NM_007294.4(BRCA1):c.1018_1019insA:p.Val340fs	coding	Pathogenic
17	43094512	AC	A	C43094514T	BRCA1	NM_007294.4(BRCA1):c.1018del:p.Lys339_Val340insTer	coding	Pathogenic
17	43094513	C	CG	C43094514G	BRCA1	NM_007294.4(BRCA1):c.1017_1018insC:p.Val340fs	coding	Pathogenic
17	43094513	C	CT	C43094514T	BRCA1	NM_007294.4(BRCA1):c.1017_1018insA:p.Val340fs	coding	Pathogenic
17	43094514	C	CG	T43094515G	BRCA1	NM_007294.4(BRCA1):c.1016_1017insC:p.Lys339fs	coding	Pathogenic
17	43094514	C	CT	C43094522T	BRCA1	NM_007294.4(BRCA1):c.1016dup:p.Val340fs	coding	Pathogenic
17	43094514	CT	C	T43094521C	BRCA1	NM_007294.4(BRCA1):c.1016del:p.Lys339fs	coding	Pathogenic
17	43094515	TTTTTTTCTGTGCTGGGAGTCCGCCTATCATTACATGTTTCCTTACTTCCAGCCCATCTGTTATG	T	T43094518G	BRCA1	NM_007294.4(BRCA1):c.952_1015del:p.His318fs	coding	Pathogenic
17	43094520	TTC	T	C43094522G	BRCA1	NM_007294.4(BRCA1):c.1009_1010del:p.Glu337fs	coding	Pathogenic
17	43094520	TTCTGTGCTGGGAG	T	T43094523C	BRCA1	NM_007294.4(BRCA1):c.998_1010del:p.Thr333fs	coding	Pathogenic
17	43094522	C	CT	G43094524T	BRCA1	NM_007294.3(BRCA1):c.1008dupA:p.Glu337Argfs	coding	Pathogenic
17	43094523	TGTGCTGGGAGTCCGCCTATCATTACATGTTTCCTTACTTCCAGCCCATCTGTTATGTTGGCTCC	T	G43094524T	BRCA1	NM_007294.4(BRCA1):c.944_1007del:p.Arg315fs	coding	Pathogenic
17	43094528	TG	T	G43094531A	BRCA1	NM_007294.4(BRCA1):c.1002del:p.Ser335fs	coding	Pathogenic
17	43094540	T	TATCATTAC	G43094551C	BRCA1	NM_007294.4(BRCA1):c.983_990dup:p.Arg331fs	coding	Pathogenic
17	43094542	TCATTA	T	T43094546G	BRCA1	NM_007294.4(BRCA1):c.984_988del:p.Cys328_Asp330delinsTer	coding	Pathogenic
17	43094544	ATT	A	T43094545A	BRCA1	NM_007294.4(BRCA1):c.985_986del:p.Cys328_Asn329insTer	coding	Pathogenic
17	43094545	T	TG	T43094546G	BRCA1	NM_007294.4(BRCA1):c.985_986insC:p.Asn329fs	coding	Pathogenic
17	43094546	T	TG	A43094547G	BRCA1	NM_007294.4(BRCA1):c.984_985insC:p.Asn329fs	coding	Pathogenic
17	43094548	CAT	C	A43094549G	BRCA1	NM_007294.4(BRCA1):c.981_982del:p.Thr327_Cys328insTer	coding	Pathogenic
17	43094549	ATG	A	G43094551T	BRCA1	NM_007294.4(BRCA1):c.980_981del:p.Thr327fs	coding	Pathogenic
17	43094551	GT	G	T43094554C	BRCA1	NM_007294.4(BRCA1):c.979del:p.Thr327fs	coding	Pathogenic
17	43094559	AC	A	C43094560T	BRCA1	NM_007294.4(BRCA1):c.971del:p.Ser324fs	coding	Pathogenic
17	43094562	TCCAGC	T	G43094566T	BRCA1	NM_007294.4(BRCA1):c.964_968del:p.Ala322fs	coding	Pathogenic
17	43094564	CA	C	A43094565G	BRCA1	NM_007294.4(BRCA1):c.966del:p.Gly323fs	coding	Pathogenic
17	43094566	GC	G	C43094569A	BRCA1	NM_007294.4(BRCA1):c.964del:p.Ala322fs	coding	Pathogenic
17	43094569	CA	C	A43094570T	BRCA1	NM_007294.4(BRCA1):c.961del:p.Trp321fs	coding	Pathogenic
17	43094570	ATC	A	C43094572G	BRCA1	NM_007294.4(BRCA1):c.959_960del:p.Arg320fs	coding	Pathogenic
17	43094572	CT	C	T43094573G	BRCA1	NM_007294.4(BRCA1):c.958del:p.Arg320fs	coding	Pathogenic
17	43094575	T	TAC	T43094576A	BRCA1	NM_007294.4(BRCA1):c.955_956insGT:p.Asn319fs	coding	Pathogenic
17	43094576	TA	T	A43094577T	BRCA1	NM_007294.4(BRCA1):c.954del:p.His318fs	coding	Pathogenic
17	43094576	T	TAA	T43094578A	BRCA1	NM_007294.4(BRCA1):c.954_955insTT:p.Asn319fs	coding	Pathogenic
17	43094576	T	TAC	T43094578C	BRCA1	NM_007294.4(BRCA1):c.954_955insGT:p.Asn319fs	coding	Pathogenic
17	43094577	AT	A	T43094578G	BRCA1	NM_007294.4(BRCA1):c.953del:p.His318fs	coding	Pathogenic
17	43094577	ATGTTG	A	T43094578G	BRCA1	NM_007294.4(BRCA1):c.949_953del:p.Ser316_Gln317insTer	coding	Pathogenic
17	43094578	T	ACA	T43094578A	BRCA1	NM_007294.4(BRCA1):c.953delinsTGT:p.His318fs	coding	Pathogenic
17	43094579	GT	G	T43094581G	BRCA1	NM_007294.4(BRCA1):c.951del:p.Gln317fs	coding	Pathogenic
17	43094594	AG	A	G43094595C	BRCA1	NM_007294.4(BRCA1):c.936del:p.Gly312_Leu313insTer	coding	Pathogenic
17	43094596	C	CCAGG	T43094602A	BRCA1	NM_007294.4(BRCA1):c.931_934dup:p.Gly312fs	coding	Pathogenic
17	43094597	CA	C	A43094598G	BRCA1	NM_007294.4(BRCA1):c.933del:p.Gly312fs	coding	Pathogenic
17	43094600	GC	G	C43094601T	BRCA1	NM_007294.4(BRCA1):c.930del:p.Gln310fs	coding	Pathogenic
17	43094601	CT	C	T43094602G	BRCA1	NM_007294.4(BRCA1):c.929del:p.Gln310fs	coding	Pathogenic
17	43094603	GT	G	T43094606G	BRCA1	NM_007294.4(BRCA1):c.927del:p.Lys309fs	coding	Pathogenic
17	43094606	TGC	T	G43094607T	BRCA1	NM_007294.4(BRCA1):c.923_924del:p.Ser308fs	coding	Pathogenic
17	43094606	TG	T	G43094607C	BRCA1	NM_007294.4(BRCA1):c.924del:p.Ser308fs	coding	Pathogenic
17	43094607	GC	G	C43094608T	BRCA1	NM_007294.4(BRCA1):c.923del:p.Ser308fs	coding	Pathogenic
17	43094607	GCT	A	G43094607A	BRCA1	NM_007294.4(BRCA1):c.922_924delinsT:p.Lys307_Ser308insTer	coding	Pathogenic
17	43094607	GCT	G	C43094608T	BRCA1	NM_007294.4(BRCA1):c.922_923del:p.Ser308fs	coding	Pathogenic
17	43094619	GA	G	A43094621T	BRCA1	NM_007294.4(BRCA1):c.911del:p.Phe304fs	coding	Pathogenic
17	43094621	AT	A	T43094623C	BRCA1	NM_007294.4(BRCA1):c.909del:p.Glu303fs	coding	Pathogenic
17	43094623	TC	T	C43094624A	BRCA1	NM_007294.4(BRCA1):c.907del:p.Glu303fs	coding	Pathogenic
17	43094625	A	AG	C43094627G	BRCA1	NM_007294.4(BRCA1):c.905dup:p.Ala302_Glu303insTer	coding	Pathogenic
17	43094626	GC	G	C43094628T	BRCA1	NM_007294.4(BRCA1):c.904del:p.Ala302fs	coding	Pathogenic
17	43094627	C	CA	C43094628A	BRCA1	NM_007294.4(BRCA1):c.903_904insT:p.Ala302fs	coding	Pathogenic
17	43094628	C	CA	T43094629A	BRCA1	NM_007294.4(BRCA1):c.902_903insT:p.Lys301fs	coding	Pathogenic
17	43094629	TTTTCTACATTCATTCTGTCTTTAGTGAGTAATAAACTGCTGTTCTCATGCTGTAATGAGCTGGCATGAGTATTTGTGCCACATGGCTCCACATGCAAGTTTGAAACAGAACTACCCTGATACTTTTCTGGATGCCTCTCAGCTGCACGCTTCTCAGTGGTGTTCAAATCATTATTACTGGGTTGATGATGTTCAGTATTTGTTACATCCGTCTCAGAAAATTCACAAGCAGCTGAAAATATACAAAAATAACAAGGTACTCAAAAACTGAATTGTCATTAAAAAAATACATACTTCATACACCTTGGAGGTGGAAATCAACCAACTGGCTATATTAGAGAAACTAACCTCATAAACTACCAAGTATACTGAAGATGTAGCTCATACTCTTTCATTTAATTCCTATTTACCTAGATTATTTCCACTTAGGATCCATTAAATTTTTAA	T	T43094634A	BRCA1	NM_007294.3(BRCA1):c.671-215_901del	coding	Pathogenic
17	43094633	CT	C	T43094634A	BRCA1	NM_007294.4(BRCA1):c.897del:p.Glu300fs	coding	Pathogenic
17	43094634	TAC	T	C43094636T	BRCA1	NM_007294.4(BRCA1):c.895_896del:p.Val299fs	coding	Pathogenic
17	43094635	A	ACATT	T43094645A	BRCA1	NM_007294.4(BRCA1):c.888_891AATG[3]:p.Val299fs	coding	Pathogenic
17	43094635	ACATTC	GA	A43094635G	BRCA1	NM_007294.4(BRCA1):c.891_896delinsTC:p.Met297fs	coding	Pathogenic
17	43094636	CAT	C	A43094637T	BRCA1	NM_007294.4(BRCA1):c.893_894del:p.Asn298fs	coding	Pathogenic
17	43094642	TTCTG	T	G43094646T	BRCA1	NM_007294.4(BRCA1):c.885_888del:p.Asp295fs	coding	Pathogenic
17	43094644	CT	C	T43094645G	BRCA1	NM_007294.4(BRCA1):c.886del:p.Arg296fs	coding	Pathogenic
17	43094644	CTG	C	G43094646C	BRCA1	NM_007294.4(BRCA1):c.885_886del:p.Asp295fs	coding	Pathogenic
17	43094646	GTCTTT	G	T43094647A	BRCA1	NM_007294.4(BRCA1):c.880_884del:p.Lys294fs	coding	Pathogenic
17	43094648	CT	C	T43094651A	BRCA1	NM_007294.4(BRCA1):c.882del:p.Asp295fs	coding	Pathogenic
17	43094651	TAGTGAGTAATAAACTGCTGTTCTCATGCTGTA	T	G43094653T	BRCA1	NM_007294.4(BRCA1):c.848_879del:p.Ser282_Leu283insTer	coding	Pathogenic
17	43094651	TAGTG	T	G43094655A	BRCA1	NM_007294.4(BRCA1):c.876_879del:p.Thr293fs	coding	Pathogenic
17	43094655	GA	G	A43094656G	BRCA1	NM_007294.4(BRCA1):c.875del:p.Leu292fs	coding	Pathogenic
17	43094656	AG	A	G43094657T	BRCA1	NM_007294.4(BRCA1):c.874del:p.Leu292fs	coding	Pathogenic
17	43094657	G	GT	A43094659T	BRCA1	NM_007294.4(BRCA1):c.873dup:p.Leu292fs	coding	Pathogenic
17	43094661	TA	T	A43094664C	BRCA1	NM_007294.4(BRCA1):c.869del:p.Leu290fs	coding	Pathogenic
17	43094668	C	CTG	T43094672G	BRCA1	NM_007294.4(BRCA1):c.861_862dup:p.Ser288fs	coding	Pathogenic
17	43094668	CT	C	T43094669G	BRCA1	NM_007294.4(BRCA1):c.862del:p.Ser288fs	coding	Pathogenic
17	43094678	GCT	G	C43094679G	BRCA1	NM_007294.4(BRCA1):c.851_852del:p.Gln284fs	coding	Pathogenic
17	43094680	T	TGTAATGA	C43094689T	BRCA1	NM_007294.4(BRCA1):c.844_850dup:p.Gln284fs	coding	Pathogenic
17	43094681	G	GT	A43094683T	BRCA1	NM_007294.4(BRCA1):c.849dup:p.Gln284fs	coding	Pathogenic
17	43094682	T	TA	T43094685A	BRCA1	NM_007294.4(BRCA1):c.848dup:p.Leu283fs	coding	Pathogenic
17	43094684	ATGAG	A	T43094685C	BRCA1	NM_007294.4(BRCA1):c.843_846del:p.Ser282fs	coding	Pathogenic
17	43094688	G	GCT	G43094691C	BRCA1	NM_007294.4(BRCA1):c.841_842dup:p.Ser281fs	coding	Pathogenic
17	43094692	G	GC	A43094694C	BRCA1	NM_007294.4(BRCA1):c.838dup:p.Ala280fs	coding	Pathogenic
17	43094694	ATGAGTATT	A	A43094697T	BRCA1	NM_007294.4(BRCA1):c.829_836del:p.Asn277fs	coding	Pathogenic
17	43094695	TG	T	G43094696A	BRCA1	NM_007294.4(BRCA1):c.835del:p.His279fs	coding	Pathogenic
17	43094696	G	GT	A43094697T	BRCA1	NM_007294.4(BRCA1):c.834_835insA:p.His279fs	coding	Pathogenic
17	43094697	A	AT	G43094698T	BRCA1	NM_007294.4(BRCA1):c.833_834insA:p.His279fs	coding	Pathogenic
17	43094698	G	GT	A43094700T	BRCA1	NM_007294.4(BRCA1):c.832dup:p.Thr278fs	coding	Pathogenic
17	43094700	ATT	A	T43094702G	BRCA1	NM_007294.4(BRCA1):c.829_830del:p.Asn277fs	coding	Pathogenic
17	43094702	T	TA	T43094703A	BRCA1	NM_007294.4(BRCA1):c.828_829insT:p.Asn277Ter	coding	Pathogenic
17	43094703	TGTG	ATT	T43094703A	BRCA1	NM_007294.4(BRCA1):c.825_828delinsAAT:p.Thr276fs	coding	Pathogenic
17	43094706	G	GCCACATGGCT	C43094724G	BRCA1	NM_007294.4(BRCA1):c.815_824dup:p.Thr276fs	coding	Pathogenic
17	43094706	G	GCCACATGGCTC	A43094719C	BRCA1	NM_007294.4(BRCA1):c.814_824dup:p.Thr276fs	coding	Pathogenic
17	43094713	G	GGCTCCACATGC	A43094725G	BRCA1	NM_007294.4(BRCA1):c.807_817dup:p.Pro273fs	coding	Pathogenic
17	43094714	G	GTCCACATGGA	C43094715T	BRCA1	NM_007294.4(BRCA1):c.816_817insTCCATGTGGA:p.Pro273fs	coding	Pathogenic
17	43094715	C	CTCCACATGGA	C43094724G	BRCA1	NM_007294.4(BRCA1):c.815_816insTCCATGTGGA:p.Glu272fs	coding	Pathogenic
17	43094721	AT	A	T43094722G	BRCA1	NM_007294.4(BRCA1):c.809del:p.His270fs	coding	Pathogenic
17	43094724	CAAGTTTGAAAC	T	C43094724T	BRCA1	NM_007294.4(BRCA1):c.796_807delinsA:p.Val266fs	coding	Pathogenic
17	43094731	GAA	G	A43094733C	BRCA1	NM_007294.4(BRCA1):c.798_799del:p.Ser267fs	coding	Pathogenic
17	43094731	GA	G	A43094734C	BRCA1	NM_007294.4(BRCA1):c.799del:p.Ser267fs	coding	Pathogenic
17	43094731	G	GA	C43094735A	BRCA1	NM_007294.4(BRCA1):c.799dup:p.Ser267fs	coding	Pathogenic
17	43094735	CAG	C	G43094737A	BRCA1	NM_007294.4(BRCA1):c.794_795del:p.Ser265fs	coding	Pathogenic
17	43094736	AGAAC	A	G43094737T	BRCA1	NM_007294.4(BRCA1):c.791_794del:p.Ser264fs	coding	Pathogenic
17	43094742	A	AC	T43094746C	BRCA1	NM_007294.4(BRCA1):c.788dup:p.Gly263_Ser264insTer	coding	Pathogenic
17	43094742	AC	A	C43094745T	BRCA1	NM_007294.4(BRCA1):c.788del:p.Gly263fs	coding	Pathogenic
17	43094746	TG	T	G43094747A	BRCA1	NM_007294.4(BRCA1):c.784del:p.Gln262fs	coding	Pathogenic
17	43094751	C	CT	C43094756T	BRCA1	NM_007294.4(BRCA1):c.779dup:p.Tyr261fs	coding	Pathogenic
17	43094751	C	CTT	C43094756T	BRCA1	NM_007294.4(BRCA1):c.778_779dup:p.Tyr261fs	coding	Pathogenic
17	43094755	TC	T	C43094756T	BRCA1	NM_007294.4(BRCA1):c.775del:p.Glu259fs	coding	Pathogenic
17	43094760	A	ATC	G43094762C	BRCA1	NM_007294.4(BRCA1):c.770_771insGA:p.His257fs	coding	Pathogenic
17	43094760	A	AT	G43094762T	BRCA1	NM_007294.4(BRCA1):c.770dup:p.His257fs	coding	Pathogenic
17	43094776	CG	C	G43094777C	BRCA1	NM_007294.4(BRCA1):c.754del:p.Arg252fs	coding	Pathogenic
17	43094779	TTC	T	T43094782A	BRCA1	NM_007294.4(BRCA1):c.748_749GA[1]:p.Lys251fs	coding	Pathogenic
17	43094784	AGT	A	T43094786G	BRCA1	NM_007294.4(BRCA1):c.745_746del:p.Thr248_Thr249insTer	coding	Pathogenic
17	43094785	G	GT	G43094787T	BRCA1	NM_007294.4(BRCA1):c.745dup:p.Thr249fs	coding	Pathogenic
17	43094786	TG	T	G43094788T	BRCA1	NM_007294.4(BRCA1):c.744del:p.Thr249fs	coding	Pathogenic
17	43094787	G	GT	G43094788T	BRCA1	NM_007294.4(BRCA1):c.743_744insA:p.Thr249fs	coding	Pathogenic
17	43094788	G	GT	G43094790T	BRCA1	NM_007294.4(BRCA1):c.742dup:p.Thr248fs	coding	Pathogenic
17	43094792	T	TC	A43094794C	BRCA1	NM_007294.4(BRCA1):c.738dup:p.Asn247fs	coding	Pathogenic
17	43094793	CA	C	A43094796T	BRCA1	NM_007294.4(BRCA1):c.737del:p.Asp245_Leu246insTer	coding	Pathogenic
17	43094799	AT	A	T43094801A	BRCA1	NM_007294.4(BRCA1):c.731del:p.Asn244fs	coding	Pathogenic
17	43094800	T	TTACTGGGTTGATGATGTTCAGTATTTGTTAC	T43094803C	BRCA1	NM_007294.4(BRCA1):c.730_731insGTAACAAATACTGAACATCATCAACCCAGTA:p.Asn244delinsSerAsnLysTyrTer	coding	Pathogenic
17	43094801	T	TTACTGGGTTGATGATGTTCAGTATTTGTTAC	A43094802T	BRCA1	NM_007294.4(BRCA1):c.729_730insGTAACAAATACTGAACATCATCAACCCAGTA:p.Asn244fs	coding	Pathogenic
17	43094815	TG	T	G43094816A	BRCA1	NM_007294.4(BRCA1):c.715del:p.His239fs	coding	Pathogenic
17	43094823	AG	A	G43094824T	BRCA1	NM_007294.4(BRCA1):c.707del:p.Thr236fs	coding	Pathogenic
17	43094824	G	GT	A43094826T	BRCA1	NM_007294.4(BRCA1):c.706dup:p.Thr236fs	coding	Pathogenic
17	43094826	AT	A	T43094829G	BRCA1	NM_007294.4(BRCA1):c.704del:p.Asn235fs	coding	Pathogenic
17	43094826	ATTTGT	A	T43094828A	BRCA1	NM_007294.4(BRCA1):c.700_704del:p.Thr234fs	coding	Pathogenic
17	43094831	TTAC	T	T43094832A	BRCA1	NM_007294.4(BRCA1):c.697_699del:p.Val233del	coding	Pathogenic
17	43094832	TAC	T	C43094834T	BRCA1	NM_007294.4(BRCA1):c.697_698del:p.Val233fs	coding	Pathogenic
17	43094833	AC	A	C43094834A	BRCA1	NM_007294.4(BRCA1):c.697del:p.Asp232_Val233insTer	coding	Pathogenic
17	43094835	A	AT	C43094837T	BRCA1	NM_007294.4(BRCA1):c.695dup:p.Asp232fs	coding	Pathogenic
17	43094838	CGTCT	C	G43094839C	BRCA1	NM_007294.4(BRCA1):c.689_692del:p.Glu230fs	coding	Pathogenic
17	43094845	GA	G	A43094849T	BRCA1	NM_007294.4(BRCA1):c.685del:p.Ser229fs	coding	Pathogenic
17	43094852	C	CG	A43094853G	BRCA1	NM_007294.4(BRCA1):c.678_679insC:p.Glu227fs	coding	Pathogenic
17	43094854	CA	C	A43094856G	BRCA1	NM_007294.4(BRCA1):c.676del:p.Cys226fs	coding	Pathogenic
17	43094871	AC	A	C43094872A	BRCA1	NM_007294.3(BRCA1):c.671-12del	noncoding	Benign/Likely_benign
17	43095103	A	ATAC	C43095104T	BRCA1	NM_007294.3(BRCA1):c.671-244_671-243insGTA	noncoding	Benign
17	43095105	A	ACCT	A43095109C	BRCA1	NM_007297.4(BRCA1):c.530-248_530-246dup	noncoding	Benign
17	43095847	C	CT	G43095854T	BRCA1	NM_007294.4(BRCA1):c.668dup:p.Ala224fs	coding	Pathogenic
17	43095847	CT	C	T43095853G	BRCA1	NM_007294.4(BRCA1):c.668del:p.Lys223fs	coding	Pathogenic
17	43095847	CTT	C	T43095852G	BRCA1	NM_007294.4(BRCA1):c.667_668del:p.Lys223fs	coding	Pathogenic
17	43095866	CT	C	T43095867G	BRCA1	NM_007294.4(BRCA1):c.649del:p.Ser217fs	coding	Pathogenic
17	43095875	TC	T	C43095878T	BRCA1	NM_007294.4(BRCA1):c.640del:p.Asp214fs	coding	Pathogenic
17	43095893	G	GTGATTTGT	A43095902T	BRCA1	NM_007294.4(BRCA1):c.615_622dup:p.Thr208fs	coding	Pathogenic/Likely_pathogenic
17	43095900	G	GT	A43095902T	BRCA1	NM_007294.4(BRCA1):c.615dup:p.Gln206fs	coding	Pathogenic
17	43095911	TG	T	G43095912A	BRCA1	NM_007294.4(BRCA1):c.604del:p.Gln202fs	coding	Pathogenic
17	43095918	CCACA	C	A43095920T	BRCA1	NM_007294.3(BRCA1):c.594_597delTGTG	coding	Pathogenic/Likely_pathogenic
17	43096376	C	CAAAAAAAAAAA	G43096395A	BRCA1	NM_007294.3(BRCA1):c.594-472_594-462dup	noncoding	Benign
17	43096571	CA	C	A43096590C	BRCA1	NM_007294.3(BRCA1):c.594-650del	noncoding	Benign
17	43096737	ATTTTCATCAGTCACAATTACTGCTGTGTCAATATTACTGTATATGAGGAACTTAGAGAACAATCTGCTAGAAGCAAGCATGTGCAGAGTTCTACTGTTATCCTAAATTCCTTTGGACAGTGCTAATAACTAAATCCAACAAACAAAAAGGGTATTTCCTCCACTATAAAATGAGAGAACTAAACTAGATGATCTCTAAGGTTTCTTCCAATACCATGATTCTAGTCTGGAGAAACACCAGCCTACTTGAGGGAGGAAGGTGGGAAGAGGGAGAAATTCAGAAAGAAAGCAAACAAAAAACTGTGGGGTATGCTTAGTACCCGGATGATGAAAAAAATCTATACACCAAATCCCAAGTCGTGTGTTTACCTATATAACAAACTGCACATACATCCCTGAACCTAAAATAAAAGTTAAAATATTTTTAAAAAGAGAGAAACATCAATCCTTAATATTAACTAAATAGGAAAATACCAGCTTCATAGACAAAGGTTCTCTTTGACTCACCTGCAATAAGTTGCCTTATTAACGGTATCTTCAGAAGAATCAGATCCTAAAAAATTTCCCCCCAAAAAATAAATCAATAAAAGTTTTCTTAATTAAAAGGGTTAAAAAAATGTACTTGTTGAAAAACAGATATTCAACTAGAAATATTTACTGAGCATCTACTGTGGCAGGTACAATGCTAGTTAAGCTAGTATGTAATACAGAGAAGTGGTTAAAGGCATGGGCTTCGCCAGGCACAGTGGCTCTCACCTGTAATCCCAGCACTTGAGGAGGCCGAGATGGGTGGATTATTTGAGGTTAGGAGTTCAAGACCAGCCTGGCCAACAAAGTGAGACCCCCGTTTCTACTGAAAACAAAAACAAAAACAAAAAAAAAGCACAGGCTCTGACATCTAACTTCCTAGGTTTGAATCATGGCTCAGCCACTTACTAGGTTTAATACCTTGGAAAAATTTCATAACTTCTCTGTGCCTTAATTTTCTCATCTGTAAAATAAGTATAATAGGAACAATCTCAGAGGTCTGACAAGCATCTAATGAGTTATACAAGAAAAGCACAATAGTGCCTGGAATATAGTTAAGTGCTCCTAAATATCAACTACTATAACTATTTTTACAATGCCTGTTGTCTAGGAATTTATGATCATAAGGGGGGAAAACAGTAAGTGTTATGATAAATAGATGGTGGTGCCTGGGAGCTCAAAAGATGGCTATCCTTTTTAATTATAAATATATTCTAAAAGAAAATCCAATTTGAGAGCCCAGTTTGAATTCTGAGCTCAGCAGCTCTTTTTTTTTTTTTTTTGGAGGTCTTGCTCTGTCACCCAGGTTGGAGTGCAGTGGCATGATCATAGCTCACTACAGCCTCAAACTCCTGGGTTCAATGTATCCACTCACCTCTGCCTCCTGAGTAGCTGGGACTACAGATGCACACCACCACACCCAGCTAATTTAAAAAAGAAATTTTTTTGTAGAGATGAGGTCTTGCTATGTTGCCCAGGCTGGTCTCAAACTCCTGGCTTCAAGCAATCCTCTGCCACTGCTGAGATTACAGATGTGAGCTACTATGCTGGCCTCAACTTTTCTTTTTATAAGCTTAAAAAAATTTATTATTTTTAAAAATTATTATTTTTTTGAGATGCAGTCTCACTCTATTGCCCAGGCTGGAGTGCAGTGGTGTAGTGTTGGCTCATTGTAACCTCCGCCTCCCTGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAAGCATGTGCTACCACACCCAGCTAATTTTTTTTTTTTTTTGTATTTTTAGTAAAGAGGGGTTTCACCAGGTTATCCAGGCTGGTCTCGAACTCTGACCTCAGGTGATCTACCTGCCTCAGCCTCCCAAAGTATTGGGATTACAGGCATGAGCCACCGCACCGGCCAAAAATGTATTATTATTTTAAAAATAGAGACAGGGTTCCCCTATGTTGGCCAGGCTGGTCTTAAACTCGTGGACTCAACCAATCCTTCTGCCTCGGTCTTCCAAAGCGTTAGGATTACAGGCACGAGCCATCCTGCCCAGCCAAGATTCAGCTCTTTTTTTTTTTTTTTGAGATGGAGTTTCACTCTTGTTGCCTAGGCTGGAGTGCAATGGTGCGATCTTGGCTCACTGCAACCTCTGCTTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCATAAGCCACCACCCCGGCTAATTTTTTTTTTTTTTTTTTTAGTAGAGATGGGGTTTCTCCATGTTGGTCAGGCTGGTCTTGAACTCCCGACCTCAGGTGATCCGCCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGCGCCTGGCAATTCAGCTCTTCTTAAAAGGCTTCCTCATCTAGTACAATTTATCTTGGAACTAAATACTGTAGCAATCCATCATGTTTTTTCTTATTGCTACTCTCCATCTTTCCAAAACATATTTACACATATTTAAAACCAGATATTCTTTCTTTTGCTCTCTTTTTTTTTTTTAGATGGAGTTTCGCTATTTTTGCCCAGGCTGGAGTGCAATGGTGCGATCTCGGTTCACCGCAACCTCCACCTCCCGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGTTATGTGCCACCACACCTGGCTAATTTTTTATTTTTTGGTACAGACAGAGTTTCTCCATGTTGGCTAGGCTGGTCTCGAACTCCCGACCTCAGGTGATCCACCCACTTTGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCATGCCTGGCCTCTTTTGCTCCCTTTTTAAAGTAAGATTCTTCAAGGTGGGAACTGCGTCTTTTACATTTTTTATAACTCACCATAGGGCTCATAAAATTCACTTCCCAAAGCTGCCTACCACAAATACAAATTATGACCAAGATTTTTGGCAAAACTATAAGATAAGGAATCCAGCAATTATTATTAAATACTTAAAAAACCTGAGACCCTTACCCAATTCAATGTAGACAGACGTCTTTTGAGGTTGTATCCGCTGCTTTGTCCTCAGAGTTCTCACAGTTCCAAGGTTAGAGAGTTGGACACTGAGACTGGTTTCCTGCTAAACAGTATGGTAAAGAACAGTCAAGCAATTGTTGGCCAGTTCTGTGCTTTTCCTCCTGAAGAGAAACTTGACACCATGGACAAAATAAATTGACCATCATCAGTCAGCTAACATGTATGATGCCTGGAAAAAATGCCCAGGAATTTACACACTAAAATGTCTGGGGCTGGGAGCGGTAGCTCATGCCTATAATCCCAGCACTTTGGGAGGCTGGAGCAGGACTGCTTGAGGCCAGGAGTTCAAGACCAGCATAAGCAACAGAGTGAGACCCAGTCTCTACAAAATAATAGTAGTAGTAATAATAAAATGTGTGGGATATGTGTGATTTGAATTTTTTTTTCTGTTGTCTTAAATTTTTCAAACCTGATTATGTATTATTTGTGTAATTTTTGAAGTATTAATATAGCATATTTTGAAGCTGATACTTGATATACATTCCAATCACATCTGATAACTTTTTTTTTTGTTTTGGGGGGTGTACAGAGTCCTGCTCTGTCACCCAGGCTGGAGTGCAGTGGCGCAATCTCAGCTCACTGCAACCTCCGCCTCCTAAGTTCAAGAGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGTCTACAAGCGTGTGCAACTATGCCTGGCTAATTTGTGTGTGTGTGTGTATATATATATACATATATATGTGTGTGTGTGTGTATATATATATATAACATATATATAACATATATATATTATATATATATAACATATATATAACATATATATATGTTATATATATATAACATATATATAACATATATATATATATATATATAATATATATATATATATATATATAT	A	T43096738G	BRCA1	NM_007294.3(BRCA1):c.442-822_593+506del	noncoding	Pathogenic
17	43097267	G	GCGTT	G43097268C	BRCA1	NM_007294.4(BRCA1):c.569_570insAACG:p.Val191fs	coding	Pathogenic
17	43097291	TA	T	A43097297T	BRCA1	NM_007294.4(BRCA1):c.548-3del	noncoding	Benign/Likely_benign
17	43097306	CA	C	A43097312T	BRCA1	NM_007294.4(BRCA1):c.548-18del	noncoding	Benign
17	43097344	GT	G	T43097346A	BRCA1	NM_007294.4(BRCA1):c.548-56del	noncoding	Benign
17	43097346	TA	T	A43097353T	BRCA1	NM_007297.4(BRCA1):c.407-58del	noncoding	Benign
17	43097356	TA	T	A43097357C	BRCA1	NM_007294.3(BRCA1):c.548-68del	noncoding	Benign
17	43099609	GGAACTGCGTCTTTTACATTTTTTATAACTCACCATAGGGCTCATAAAATTCACTTCCCAAAGCTGCCTACCACAAATACAAATTATGACCAAGATTTTTGGCAAAACTATAAGATAAGGAATCCAGCAATTATTATTAAATACTTAAAAAACCTGAGACCCTTACCCAATTCAATGT	G	G43099610A	BRCA1	NM_007294.3(BRCA1):c.536_547+165del	noncoding	Pathogenic
17	43099785	GT	G	T43099786A	BRCA1	NM_007294.4(BRCA1):c.536del:p.Tyr179fs	coding	Pathogenic
17	43099790	CA	C	A43099791G	BRCA1	NM_007294.4(BRCA1):c.531del:p.Val178fs	coding	Pathogenic
17	43099790	C	CA	G43099792A	BRCA1	NM_007294.4(BRCA1):c.531dup:p.Val178fs	coding	Pathogenic
17	43099792	GA	G	A43099793C	BRCA1	NM_007294.4(BRCA1):c.529del:p.Ser177fs	coding	Pathogenic
17	43099797	CTTTTGAGGTTGTATCCGCTGCTTTGTCCTCAGAGTTCTCACAGTTCCAAGGTTAGAGAGTTGGACACTGAGACTGGTTTCCTGCTAAACAGTATGGTAAAGAACAGTCAAGCAATTGTTGGCCAGT	C	T43099799C	BRCA1	NM_007294.3(BRCA1):c.442-43_524del	coding	Pathogenic
17	43099801	TG	T	G43099802A	BRCA1	NM_007294.4(BRCA1):c.520del:p.Gln174fs	coding	Pathogenic
17	43099802	GA	G	A43099803G	BRCA1	NM_007294.4(BRCA1):c.519del:p.Gln174fs	coding	Pathogenic
17	43099803	AG	A	G43099805T	BRCA1	NM_007294.4(BRCA1):c.518del:p.Pro173fs	coding	Pathogenic
17	43099805	GT	G	T43099807G	BRCA1	NM_007294.4(BRCA1):c.516del:p.Gln172fs	coding	Pathogenic
17	43099807	TG	T	G43099808T	BRCA1	NM_007294.4(BRCA1):c.514del:p.Gln172fs	coding	Pathogenic
17	43099808	G	GT	A43099810T	BRCA1	NM_007294.4(BRCA1):c.513dup:p.Gln172fs	coding	Pathogenic
17	43099809	T	TA	T43099811A	BRCA1	NM_007294.4(BRCA1):c.512dup:p.Gln172fs	coding	Pathogenic
17	43099811	TC	T	C43099813G	BRCA1	NM_007294.4(BRCA1):c.510del:p.Ile171fs	coding	Pathogenic
17	43099818	CTTTG	C	T43099820C	BRCA1	NM_007294.4(BRCA1):c.500_503del:p.Thr167fs	coding	Pathogenic
17	43099820	TTG	T	G43099822C	BRCA1	NM_007294.4(BRCA1):c.500_501del:p.Thr167fs	coding	Pathogenic
17	43099827	CAG	C	A43099830T	BRCA1	NM_007294.4(BRCA1):c.491_492CT[1]:p.Leu165fs	coding	Pathogenic
17	43099827	C	CA	G43099829A	BRCA1	NM_007294.3(BRCA1):c.494dupT:p.Arg166Glufs	coding	Pathogenic
17	43099828	AG	A	G43099829A	BRCA1	NM_007294.4(BRCA1):c.493del:p.Thr164_Leu165insTer	coding	Pathogenic
17	43099831	GT	G	T43099833C	BRCA1	NM_007294.4(BRCA1):c.490del:p.Thr164fs	coding	Pathogenic
17	43099833	TC	T	C43099834T	BRCA1	NM_007294.4(BRCA1):c.488del:p.Arg163fs	coding	Pathogenic
17	43099835	TCA	T	C43099838G	BRCA1	NM_007294.4(BRCA1):c.483_484TG[1]:p.Val162fs	coding	Pathogenic
17	43099835	T	TCA	G43099840C	BRCA1	NM_007294.4(BRCA1):c.483_484TG[3]:p.Arg163Ter	coding	Pathogenic
17	43099836	C	CA	C43099838A	BRCA1	NM_007294.4(BRCA1):c.485dup:p.Arg163fs	coding	Pathogenic
17	43099844	CAAGGTTAG	C	A43099846G	BRCA1	NM_007294.4(BRCA1):c.470_477del:p.Ser157fs	coding	Pathogenic
17	43099846	AG	A	G43099848T	BRCA1	NM_007294.4(BRCA1):c.475del:p.Gly160fs	coding	Pathogenic
17	43099850	TAG	T	A43099855T	BRCA1	NM_007294.4(BRCA1):c.466_467CT[2]:p.Leu156_Ser157insTer	coding	Pathogenic
17	43099852	G	GAT	G43099854T	BRCA1	NM_007294.4(BRCA1):c.469_470insAT:p.Ser157fs	coding	Pathogenic
17	43099854	GAGTTGGAC	G	G43099856C	BRCA1	NM_007294.4(BRCA1):c.460_467del:p.Val154fs	coding	Pathogenic
17	43099855	A	AG	T43099857G	BRCA1	NM_007294.4(BRCA1):c.466dup:p.Leu156fs	coding	Pathogenic
17	43099856	GT	G	T43099858G	BRCA1	NM_007294.4(BRCA1):c.465del:p.Gln155fs	coding	Pathogenic
17	43099856	GTT	G	T43099857G	BRCA1	NM_007294.4(BRCA1):c.464_465del:p.Gln155fs	coding	Pathogenic
17	43099863	ACT	A	C43099864G	BRCA1	NM_007294.4(BRCA1):c.457_458del:p.Ser153fs	coding	Pathogenic
17	43099864	CTG	C	T43099865A	BRCA1	NM_007294.4(BRCA1):c.456_457del:p.Ser153fs	coding	Pathogenic
17	43099865	TG	T	G43099866A	BRCA1	NM_007294.4(BRCA1):c.456del:p.Ser153fs	coding	Pathogenic
17	43099876	TC	T	C43099878T	BRCA1	NM_007294.3(BRCA1):c.445del:p.Glu149fs	coding	Pathogenic
17	43104057	CA	C	A43104069G	BRCA1	NM_007294.4(BRCA1):c.441+64del	noncoding	Benign
17	43104058	AAAAAAAAAAAAG	A	A43104069G	BRCA1	NM_007294.3(BRCA1):c.441+52_441+63del	noncoding	Benign
17	43104071	AAAAAAAAAAGAAAAG	A	A43104074G	BRCA1	NM_007294.4(BRCA1):c.441+36_441+50del	noncoding	Benign
17	43104072	AAAAAAAAAGAAAAG	A	A43104075G	BRCA1	NM_007294.4(BRCA1):c.441+36_441+49del	noncoding	Benign
17	43104083	AAAG	A	G43104104A	BRCA1	NM_007294.3(BRCA1):c.441+18CTT[6]	noncoding	Benign
17	43104104	GA	G	A43104108C	BRCA1	NM_007294.4(BRCA1):c.441+17del	noncoding	Benign/Likely_benign
17	43104122	CAAGG	C	A43104128T	BRCA1	NM_007294.4(BRCA1):c.433_436CCTT[1]:p.Ser146fs	coding	Pathogenic
17	43104131	A	AT	C43104136T	BRCA1	NM_007294.4(BRCA1):c.431dup:p.Asn144fs	coding	Pathogenic
17	43104131	AT	A	T43104135C	BRCA1	NM_007294.4(BRCA1):c.431del:p.Asn144fs	coding	Pathogenic
17	43104131	ATTTTCGGG	A	T43104134C	BRCA1	NM_007294.4(BRCA1):c.424_431del:p.Pro142fs	coding	Pathogenic
17	43104144	C	CT	C43104146T	BRCA1	NM_007294.4(BRCA1):c.418dup:p.Ser140fs	coding	Pathogenic
17	43104144	CTCTGTAG	C	T43104145A	BRCA1	NM_007294.4(BRCA1):c.412_418del:p.Leu138fs	coding	Pathogenic
17	43104146	C	CT	G43104148T	BRCA1	NM_007294.4(BRCA1):c.416dup:p.Ser140fs	coding	Pathogenic
17	43104147	TG	T	G43104148T	BRCA1	NM_007294.4(BRCA1):c.415del:p.Gln139fs	coding	Pathogenic
17	43104148	GTAGA	G	T43104149A	BRCA1	NM_007294.4(BRCA1):c.411_414del:p.Leu138fs	coding	Pathogenic
17	43104151	GA	G	A43104153G	BRCA1	NM_007294.4(BRCA1):c.411del:p.Leu138fs	coding	Pathogenic
17	43104151	G	GA	G43104154A	BRCA1	NM_007294.4(BRCA1):c.411dup:p.Leu138fs	coding	Pathogenic
17	43104155	TC	T	C43104156T	BRCA1	NM_007294.4(BRCA1):c.407del:p.Arg136fs	coding	Pathogenic
17	43104156	C	CT	G43104161T	BRCA1	NM_007294.3(BRCA1):c.406dupA:p.Arg136Lysfs	coding	Pathogenic
17	43104156	CT	C	T43104160G	BRCA1	NM_007294.4(BRCA1):c.406del:p.Arg136fs	coding	Pathogenic
17	43104162	GCA	G	A43104164G	BRCA1	NM_007294.4(BRCA1):c.399_400del:p.Ala134fs	coding	Pathogenic
17	43104165	CG	C	G43104167T	BRCA1	NM_007294.4(BRCA1):c.397del:p.Arg133fs	coding	Pathogenic
17	43104172	TGT	AGA	T43104172A	BRCA1	NM_007294.4(BRCA1):c.389_391delinsTCT:p.Tyr130_Arg131delinsPheTer	coding	Pathogenic
17	43104176	GC	G	C43104179A	BRCA1	NM_007294.4(BRCA1):c.386del:p.Gly129fs	coding	Pathogenic
17	43104177	CC	G	C43104177G	BRCA1	NM_007294.4(BRCA1):c.385_386delinsC:p.Gly129fs	coding	Pathogenic
17	43104186	T	TA	G43104187A	BRCA1	NM_007294.4(BRCA1):c.376_377insT:p.Gln126fs	coding	Pathogenic
17	43104187	G	GA	G43104188A	BRCA1	NM_007294.4(BRCA1):c.375_376insT:p.Gln126fs	coding	Pathogenic
17	43104188	G	GA	T43104190A	BRCA1	NM_007294.4(BRCA1):c.374dup:p.Gln126fs	coding	Pathogenic
17	43104190	TG	T	G43104191A	BRCA1	NM_007294.4(BRCA1):c.372del:p.Ile125fs	coding	Pathogenic
17	43104194	AG	A	G43104195A	BRCA1	NM_007294.4(BRCA1):c.368del:p.Ser123fs	coding	Pathogenic
17	43104198	ACT	A	C43104199T	BRCA1	NM_007294.4(BRCA1):c.363_364del:p.Glu121fs	coding	Pathogenic
17	43104201	T	TC	A43104203C	BRCA1	NM_007294.4(BRCA1):c.361dup:p.Glu121fs	coding	Pathogenic
17	43104205	CT	A	C43104205A	BRCA1	NM_007294.4(BRCA1):c.357_358delinsT:p.Lys119fs	coding	Pathogenic
17	43104216	TC	T	C43104217A	BRCA1	NM_007294.4(BRCA1):c.346del:p.Glu116fs	coding	Pathogenic
17	43104218	AGG	A	G43104219A	BRCA1	NM_007294.4(BRCA1):c.343_344del:p.Ser114_Pro115insTer	coding	Pathogenic
17	43104219	GGA	G	A43104223T	BRCA1	NM_007294.4(BRCA1):c.340_341TC[1]:p.Ser114_Pro115insTer	coding	Pathogenic
17	43104220	GA	G	A43104221G	BRCA1	NM_007294.4(BRCA1):c.342del:p.Pro115fs	coding	Pathogenic
17	43104224	GTTAT	G	A43104227T	BRCA1	NM_007294.4(BRCA1):c.335_338del:p.Asn112fs	coding	Pathogenic
17	43104227	A	AT	C43104232T	BRCA1	NM_007294.4(BRCA1):c.335dup:p.Asn112fs	coding	Pathogenic
17	43104227	AT	A	T43104231C	BRCA1	NM_007294.4(BRCA1):c.335del:p.Asn112fs	coding	Pathogenic
17	43104231	TC	T	C43104233T	BRCA1	NM_007294.4(BRCA1):c.331del:p.Glu111fs	coding	Pathogenic
17	43104232	C	CT	C43104233T	BRCA1	NM_007294.4(BRCA1):c.330_331insA:p.Glu111fs	coding	Pathogenic
17	43104232	CCT	C	C43104233T	BRCA1	NM_007294.4(BRCA1):c.329_330del:p.Lys110fs	coding	Pathogenic
17	43104233	C	CT	G43104240T	BRCA1	NM_007294.4(BRCA1):c.329dup:p.Glu111fs	coding	Pathogenic
17	43104233	CT	C	T43104239G	BRCA1	NM_007294.4(BRCA1):c.329del:p.Lys110fs	coding	Pathogenic
17	43104233	CTT	C	T43104238G	BRCA1	NM_007294.4(BRCA1):c.328_329del:p.Lys110fs	coding	Pathogenic
17	43104239	TG	T	G43104240C	BRCA1	NM_007294.4(BRCA1):c.323del:p.Ala108fs	coding	Pathogenic
17	43104241	CA	C	A43104245T	BRCA1	NM_007294.4(BRCA1):c.321del:p.Phe107fs	coding	Pathogenic
17	43104245	AT	A	T43104247A	BRCA1	NM_007294.4(BRCA1):c.317del:p.Asn106fs	coding	Pathogenic
17	43104252	C	CT	G43104254T	BRCA1	NM_007294.4(BRCA1):c.310dup:p.Ser104fs	coding	Pathogenic
17	43104252	CT	C	T43104253G	BRCA1	NM_007294.4(BRCA1):c.310del:p.Ser104fs	coding	Pathogenic
17	43104257	TG	T	G43104258C	BRCA1	NM_007294.4(BRCA1):c.305del:p.Ala102fs	coding	Pathogenic
17	43104260	ATC	A	C43104262G	BRCA1	NM_007294.3(BRCA1):c.302-1_302del	coding	Pathogenic
17	43104262	CT	C	T43104263G	BRCA1	NM_007294.3(BRCA1):c.302-2del	noncoding	Pathogenic
17	43104877	CTG	C	G43104881C	BRCA1	NM_007294.4(BRCA1):c.288_289CA[1]:p.Thr97fs	coding	Pathogenic
17	43104877	CTGTG	ACAGGTT	C43104877A	BRCA1	NM_007294.4(BRCA1):c.288_292delinsAACCTGT:p.Asp96fs	coding	Pathogenic
17	43104882	TCAAG	T	A43104884T	BRCA1	NM_007294.4(BRCA1):c.283_286del:p.Leu95fs	coding	Pathogenic
17	43104887	CTGAAAAGCACAAA	C	A43104891T	BRCA1	NM_007294.4(BRCA1):c.269_281del:p.Ile90fs	coding	Pathogenic
17	43104889	GA	TTC	G43104889T	BRCA1	NM_007294.4(BRCA1):c.279_280delinsGAA:p.Phe93fs	coding	Pathogenic
17	43104890	AAA	GG	A43104890G	BRCA1	NM_007294.4(BRCA1):c.277_279delinsCC:p.Phe93fs	coding	Pathogenic
17	43104894	GCA	G	C43104897A	BRCA1	NM_007294.4(BRCA1):c.271_272TG[1]:p.Ala92fs	coding	Pathogenic
17	43104917	TTCAACAAGTTG	T	T43104918A	BRCA1	NM_007294.4(BRCA1):c.241_251del:p.Gln81fs	coding	Pathogenic
17	43104922	CA	C	A43104924G	BRCA1	NM_007294.4(BRCA1):c.246del:p.Val83fs	coding	Pathogenic
17	43104925	GT	G	T43104927G	BRCA1	NM_007294.4(BRCA1):c.243del:p.Gln81fs	coding	Pathogenic
17	43104928	GAC	AA	G43104928A	BRCA1	NM_007294.4(BRCA1):c.239_241delinsTT:p.Ser80fs	coding	Pathogenic
17	43104931	TA	T	A43104934T	BRCA1	NM_007294.4(BRCA1):c.237del:p.Phe79fs	coding	Pathogenic
17	43104936	CT	C	T43104937C	BRCA1	NM_007294.4(BRCA1):c.232del:p.Arg78fs	coding	Pathogenic
17	43104939	G	AACAAGTTGAC	G43104939A	BRCA1	NM_007294.4(BRCA1):c.230delinsGTCAACTTGTT:p.Thr77fs	coding	Pathogenic
17	43104941	ACTTT	A	T43104945G	BRCA1	NM_007294.4(BRCA1):c.224_227del:p.Glu75fs	coding	Pathogenic
17	43106456	C	CT	G43106461T	BRCA1	NM_007294.3(BRCA1):c.211dup:p.Arg71fs	coding	Pathogenic
17	43106456	CT	C	T43106460G	BRCA1	NM_007297.4(BRCA1):c.70del:p.Arg24fs	coding	Pathogenic
17	43106456	CTTTTGGTTATATCATTCTTACA	C	T43106458A	BRCA1	NM_007294.3(BRCA1):c.190_211del:p.Cys64fs	coding	Pathogenic
17	43106462	G	GT	A43106465T	BRCA1	NM_007294.3(BRCA1):c.205dup:p.Thr69fs	coding	Pathogenic
17	43106463	TTA	T	A43106467C	BRCA1	NM_007294.4(BRCA1):c.201_202TA[1]:p.Ile68fs	coding	Pathogenic
17	43106465	A	AT	A43106467T	BRCA1	NM_007297.4(BRCA1):c.61dup:p.Ile21fs	coding	Pathogenic
17	43106472	TC	T	C43106473T	BRCA1	NM_007300.4(BRCA1):c.195del:p.Asn66fs	coding	Pathogenic
17	43106474	TTACA	T	C43106477A	BRCA1	NM_007294.3(BRCA1):c.190_193del:p.Cys64fs	coding	Pathogenic
17	43106477	C	CTTTATATCATCCTTACATT	A43106478T	BRCA1	NM_007294.4(BRCA1):c.190_191insAATGTAAGGATGATATAAA:p.Cys64Ter	coding	Pathogenic
17	43106478	A	AT	A43106480T	BRCA1	NM_007294.3(BRCA1):c.189dupA:p.Cys64Metfs	coding	Pathogenic
17	43106479	TAA	T	A43106481G	BRCA1	NM_007294.4(BRCA1):c.187_188del:p.Leu63fs	coding	Pathogenic
17	43106484	GAC	G	A43106487T	BRCA1	NM_007294.4(BRCA1):c.180_181GT[1]:p.Cys61fs	coding	Pathogenic
17	43106484	G	GGCGC	A43106485G	BRCA1	NM_007294.4(BRCA1):c.183_184insGCGC:p.Pro62fs	coding	Pathogenic
17	43106485	A	AGCGC	C43106486G	BRCA1	NM_007294.4(BRCA1):c.182_183insGCGC:p.Cys61fs	coding	Pathogenic
17	43106488	C	CT	G43106490T	BRCA1	NM_007294.4(BRCA1):c.179dup:p.Cys61fs	coding	Pathogenic
17	43106488	CT	C	T43106489G	BRCA1	NM_007294.4(BRCA1):c.179del:p.Gln60fs	coding	Pathogenic
17	43106488	CTG	C	T43106491A	BRCA1	NM_007294.4(BRCA1):c.176_177CA[1]:p.Gln60fs	coding	Pathogenic
17	43106496	GC	G	C43106499T	BRCA1	NM_007294.4(BRCA1):c.171del:p.Pro58fs	coding	Pathogenic
17	43106496	G	GC	T43106500C	BRCA1	NM_007294.4(BRCA1):c.171dup:p.Pro58fs	coding	Pathogenic
17	43106501	T	TTC	T43106505C	BRCA1	NM_007294.4(BRCA1):c.165_166dup:p.Lys56fs	coding	Pathogenic
17	43106507	TG	T	G43106509T	BRCA1	NM_007294.4(BRCA1):c.160del:p.Gln54fs	coding	Pathogenic
17	43106517	GT	G	T43106520C	BRCA1	NM_007294.4(BRCA1):c.150del:p.Lys50fs	coding	Pathogenic
17	43106523	GC	G	C43106524A	BRCA1	NM_007294.4(BRCA1):c.144del:p.Met48fs	coding	Pathogenic
17	43106524	CA	C	A43106525T	BRCA1	NM_007294.4(BRCA1):c.143del:p.Met48fs	coding	Pathogenic
17	43106526	T	TA	G43106527A	BRCA1	NM_007294.4(BRCA1):c.141_142insT:p.Met48fs	coding	Pathogenic
17	43106527	G	GA	C43106528A	BRCA1	NM_007294.4(BRCA1):c.140_141insT:p.Met48fs	coding	Pathogenic
17	43106528	C	CA	T43106533A	BRCA1	NM_007294.4(BRCA1):c.139dup:p.Cys47fs	coding	Pathogenic
17	43113362	ATTTTC	A	C43113377T	BRCA1	NM_007294.3(BRCA1):c.134+2349GAAAA[2]	noncoding	Benign
17	43114718	TTTACCAAGTACATAGTTTGTACCTGGTACCAGGTTATGTACCAGGTACATAAATACTTAAAAACAAATTAGTTGACATTTAAGGTAAGATGTGAGCCATAGCTTAACATAAAGAAAAGGAGAAAGCCCACTTGTTCTACTAAATTACCTACTCTACTTTTTCTGAAATTCTTTTATTAAGAAACAAACATTTTCATTTCAAAAGACAAGATCATCAAATACGTAAATATAACTTGAATCACTGCTATAAATGAATTTTGGCCTAAATAGAAACTGGTATCAGGTCCTTTCCTGTCTTCACAATGATTACAAAGCGGGCAAACACTGACCCTTAGAAGGGGGAATGCATAAGGATATGCAGAAATGAACAGAAAGGAGAAACTGGGAAGGCTCAAACACAATGTGCTTATTTCAAAACTGCTTGCAGTTTGCTTTCACTGATGGACACAAAAAATACAAAACACTGTTCAAAATGATGTTACATCCTAATAGATAATATATGTCAGTCGGGTGTGGTGGCTCACGCCTGTAATCCCAGAACTTTGGGAGGCCGAGGCAGGTGGATCACAAGGTCAGGAGTTCGAGACCAGCCTGGCCAATATGGTGAAACCTTATCTCTACTAAAAGTACAAAAATTAGCCAAGCATGGTGGCGGGTGCCTGTAGTCCCAGCTACCTGGGAGGCTGAGGTAGAAGAATCGCTTGAACTCGGGGGGCGGAGGTTGCAGTGAGCCAAGATCATGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTTTGTCTCAAAAAAAAAAAAAAAGATAATATATGTCAAAACTTTACCAGGAACTATGATTACAACCAACTTTTGATAACTATATACTCTCTGAGAAAGAATGAAATGGAGTTGGATTTTTCGTTCTCACTTAATTGAAGAAAGTAAAGCTTCTATAAAGTTAGGTGTTTCCTGGGTTATGAAGGACAAAAACAAAAGCTAATAATGGAGCCACATAACACATTCAAACTTACTTGCAAAATATGTGGTCACACTTTGTGGAG	T	T43114719A	BRCA1	NM_007294.3(BRCA1):c.105_134+1007del	noncoding	Pathogenic
17	43115501	CA	C	A43115516G	BRCA1	NM_007294.3(BRCA1):c.134+224del	noncoding	Benign
17	43115719	AACTT	A	A43115724G	BRCA1	NM_007294.3(BRCA1):c.134+3_134+6del	noncoding	Pathogenic
17	43115722	T	TA	T43115723A	BRCA1	NM_007294.3(BRCA1):c.134+3_134+4insT	noncoding	Pathogenic
17	43115723	TACTT	A	T43115723A	BRCA1	NM_007294.3(BRCA1):c.133_134+3delinsT	noncoding	Pathogenic
17	43115723	TA	T	A43115724C	BRCA1	NM_007294.3(BRCA1):c.134+2del	noncoding	Pathogenic
17	43115725	CTT	C	T43115726G	BRCA1	NM_007294.4(BRCA1):c.134_135del:p.Lys45fs	coding	Pathogenic
17	43115725	CTTGCAAAATATGTGGTCACACTTTGTGGAGACAGGTTCCTTGATCAACTCCAGA	C	T43115726C	BRCA1	NM_007294.4(BRCA1):c.81_134del:p.Cys27_Lys45delinsTer	coding	Pathogenic
17	43115727	TGC	T	G43115728A	BRCA1	NM_007294.4(BRCA1):c.131_132del:p.Phe43_Cys44insTer	coding	Pathogenic
17	43115729	CA	C	A43115733T	BRCA1	NM_007294.4(BRCA1):c.130del:p.Cys44fs	coding	Pathogenic
17	43115729	C	CA	T43115734A	BRCA1	NM_007294.4(BRCA1):c.130dup:p.Cys44fs	coding	Pathogenic
17	43115735	AT	A	T43115736G	BRCA1	NM_007294.4(BRCA1):c.124del:p.Ile42fs	coding	Pathogenic
17	43115737	GT	G	T43115738G	BRCA1	NM_007294.4(BRCA1):c.122del:p.His41fs	coding	Pathogenic
17	43115738	TG	T	G43115740T	BRCA1	NM_007294.4(BRCA1):c.121del:p.His41fs	coding	Pathogenic
17	43115741	TCA	T	A43115745T	BRCA1	NM_007294.4(BRCA1):c.115_116TG[1]:p.Cys39_Asp40delinsTer	coding	Pathogenic
17	43115746	CTT	C	T43115748G	BRCA1	NM_007294.4(BRCA1):c.112_113del:p.Lys38fs	coding	Pathogenic
17	43115754	A	AG	A43115756G	BRCA1	NM_007294.4(BRCA1):c.105dup:p.Ser36fs	coding	Pathogenic
17	43115754	AGACAG	A	A43115756T	BRCA1	NM_007294.4(BRCA1):c.101_105del:p.Pro34fs	coding	Pathogenic
17	43115754	AGACAGGTT	A	G43115755C	BRCA1	NM_007294.4(BRCA1):c.98_105del:p.Glu33fs	coding	Pathogenic
17	43115757	CA	C	A43115758G	BRCA1	NM_007294.4(BRCA1):c.102del:p.Val35fs	coding	Pathogenic
17	43115758	AG	A	G43115760T	BRCA1	NM_007294.4(BRCA1):c.101del:p.Pro34fs	coding	Pathogenic
17	43115766	TG	T	G43115767A	BRCA1	NM_007294.4(BRCA1):c.93del:p.Lys32fs	coding	Pathogenic
17	43115775	CCA	C	C43115776G	BRCA1	NM_007294.4(BRCA1):c.83_84del:p.Leu28fs	coding	Pathogenic
17	43115776	CA	C	A43115777G	BRCA1	NM_007294.4(BRCA1):c.83del:p.Leu28fs	coding	Pathogenic
17	43115780	CT	C	T43115781A	BRCA1	NM_007294.3(BRCA1):c.81-2del	noncoding	Pathogenic
17	43115789	TA	T	A43115790G	BRCA1	NM_007294.3(BRCA1):c.81-11del	noncoding	Benign
17	43115790	AG	A	G43115797A	BRCA1	NM_007294.3(BRCA1):c.81-12del	noncoding	Benign/Likely_benign
17	43116191	C	CT	G43116200T	BRCA1	NM_007294.3(BRCA1):c.81-420dup	noncoding	Benign
17	43116191	C	CTT	G43116200T	BRCA1	NM_007294.3(BRCA1):c.81-420_81-419dup	noncoding	Benign
17	43124016	CCAGATGGGACA	C	A43124018T	BRCA1	NM_007294.4(BRCA1):c.71_81del:p.Cys24fs	coding	Pathogenic
17	43124021	TGG	T	G43124023A	BRCA1	NM_007294.4(BRCA1):c.74_75del:p.Pro25fs	coding	Pathogenic
17	43124021	TG	T	G43124024A	BRCA1	NM_007294.4(BRCA1):c.75del:p.Ile26fs	coding	Pathogenic
17	43124023	GGA	G	G43124024C	BRCA1	NM_007294.4(BRCA1):c.72_73del:p.Pro25fs	coding	Pathogenic
17	43124023	G	GGACA	C43124028G	BRCA1	NM_007294.4(BRCA1):c.70_73dup:p.Pro25fs	coding	Pathogenic
17	43124024	GAC	G	A43124027T	BRCA1	NM_007294.4(BRCA1):c.69_70GT[1]:p.Cys24fs	coding	Pathogenic
17	43124024	G	GAGAC	C43124026G	BRCA1	NM_007294.4(BRCA1):c.72_73insGTCT:p.Pro25fs	coding	Pathogenic
17	43124025	A	AT	C43124026T	BRCA1	NM_007294.4(BRCA1):c.71_72insA:p.Cys24Ter	coding	Pathogenic
17	43124026	CACT	C	A43124027C	BRCA1	NM_007294.4(BRCA1):c.68_70del:p.Glu23_Cys24delinsGly	coding	Pathogenic
17	43124026	C	CGACA	A43124027G	BRCA1	NM_007294.4(BRCA1):c.70_71insTGTC:p.Cys24fs	coding	Pathogenic
17	43124026	C	CT	A43124027T	BRCA1	NM_007294.4(BRCA1):c.70_71insA:p.Cys24Ter	coding	Pathogenic
17	43124027	A	AC	T43124029C	BRCA1	NM_007294.4(BRCA1):c.69dup:p.Cys24fs	coding	Pathogenic
17	43124027	A	ACT	A43124032C	BRCA1	NM_007294.4(BRCA1):c.66_67AG[3]:p.Cys24fs	coding	Pathogenic
17	43124027	ACT	A	C43124030A	BRCA1	NM_007294.4(BRCA1):c.66_67AG[1]:p.Glu23fs	coding	Pathogenic
17	43124028	C	CT	C43124030T	BRCA1	NM_007294.4(BRCA1):c.68dup:p.Cys24fs	coding	Pathogenic
17	43124028	CT	C	T43124029C	BRCA1	NM_007294.4(BRCA1):c.68del:p.Glu23fs	coding	Pathogenic
17	43124029	T	TG	C43124030G	BRCA1	NM_007294.4(BRCA1):c.67_68insC:p.Glu23fs	coding	Pathogenic
17	43124030	C	CGA	T43124031G	BRCA1	NM_007294.4(BRCA1):c.66_67insTC:p.Glu23fs	coding	Pathogenic
17	43124030	C	CT	A43124032T	BRCA1	NM_007294.3(BRCA1):c.66dupA:p.Glu23Argfs	coding	Pathogenic
17	43124031	TAAGA	T	A43124032T	BRCA1	NM_007294.4(BRCA1):c.62_65del:p.Ile21fs	coding	Pathogenic
17	43124031	TAA	T	A43124032G	BRCA1	NM_007294.4(BRCA1):c.64_65del:p.Leu22fs	coding	Pathogenic
17	43124031	TA	T	A43124033G	BRCA1	NM_007294.4(BRCA1):c.65del:p.Ile21_Leu22insTer	coding	Pathogenic
17	43124031	T	TAA	G43124034A	BRCA1	NM_007294.4(BRCA1):c.64_65dup:p.Leu22fs	coding	Pathogenic
17	43124031	T	TTA	A43124032T	BRCA1	NM_007294.4(BRCA1):c.65_66insTA:p.Leu22fs	coding	Pathogenic
17	43124034	G	GA	T43124036A	BRCA1	NM_007294.4(BRCA1):c.62dup:p.Glu23fs	coding	Pathogenic
17	43124035	AT	A	T43124039C	BRCA1	NM_007294.4(BRCA1):c.61del:p.Ile21fs	coding	Pathogenic
17	43124044	A	AT	A43124046T	BRCA1	NM_007294.4(BRCA1):c.52dup:p.Met18fs	coding	Pathogenic
17	43124045	TA	T	A43124046G	BRCA1	NM_007294.4(BRCA1):c.51del:p.Met18fs	coding	Pathogenic
17	43124046	AGCATTAATGACATTTTGTACTTCTTCAAC	A	A43124049G	BRCA1	NM_007294.4(BRCA1):c.22_50del:p.Val8fs	coding	Pathogenic
17	43124049	ATTAATGACATTTTGTACTTCTTCAACGCG	A	T43124050A	BRCA1	NM_007294.4(BRCA1):c.19_47del:p.Arg7fs	coding	Pathogenic
17	43124051	TA	T	A43124053T	BRCA1	NM_007294.4(BRCA1):c.45del:p.Asn16fs	coding	Pathogenic
17	43124051	T	TA	T43124054A	BRCA1	NM_007294.4(BRCA1):c.45dup:p.Asn16Ter	coding	Pathogenic
17	43124055	GAC	G	C43124057T	BRCA1	NM_007294.4(BRCA1):c.40_41del:p.Val14fs	coding	Pathogenic
17	43124056	AC	A	C43124057A	BRCA1	NM_007294.4(BRCA1):c.40del:p.Val14fs	coding	Pathogenic
17	43124056	ACATT	A	C43124057T	BRCA1	NM_007294.4(BRCA1):c.37_40del:p.Asn13fs	coding	Pathogenic
17	43124057	CATTT	C	A43124058T	BRCA1	NM_007294.4(BRCA1):c.36_39del:p.Asn13fs	coding	Pathogenic
17	43124062	T	TG	T43124064G	BRCA1	NM_007294.4(BRCA1):c.34dup:p.Gln12fs	coding	Pathogenic
17	43124064	T	TG	A43124065G	BRCA1	NM_007294.4(BRCA1):c.32_33insC:p.Gln12fs	coding	Pathogenic
17	43124076	G	GC	G43124078C	BRCA1	NM_007294.4(BRCA1):c.20dup:p.Val8fs	coding	Pathogenic
17	43124078	G	GC	A43124079C	BRCA1	NM_007294.4(BRCA1):c.18_19insG:p.Arg7fs	coding	Pathogenic
17	43124136	A	AAT	T43124137A	BRCA1	NM_007294.4(BRCA1):c.-19-22_-19-21insAT	noncoding	Benign
17	43124195	ATAAAG	A	G43124200T	BRCA1	NM_007294.3(BRCA1):c.-19-85_-19-81del	noncoding	Benign
17	43661440	GC	G	C43661444A	MEOX1	NM_004527.4(MEOX1):c.94del:p.Ala32fs	coding	Pathogenic
17	43753937	GC	G	C43753939A	SOST	NM_025237.3(SOST):c.*1404del	noncoding	Benign
17	43753993	CT	C	T43754004A	SOST	NM_025237.3(SOST):c.*1348del	noncoding	Benign
17	43754075	G	GC	T43754076C	SOST	NM_025237.3(SOST):c.*1266_*1267insG	noncoding	Benign
17	44004694	CG	C	G44004697C	NAGS	NM_153006.3(NAGS):c.34del:p.Ala12fs	coding	Pathogenic
17	44006637	CG	C	G44006638C	NAGS	NM_153006.3(NAGS):c.1025del:p.Arg342fs	coding	Pathogenic
17	44007628	C	CT	G44007630T	NAGS	NM_153006.3(NAGS):c.1307dup:p.Thr439fs	coding	Pathogenic
17	44007629	TG	T	G44007635C	NAGS	NM_153006.3(NAGS):c.1313del:p.Gly438fs	coding	Pathogenic
17	44071158	GAGTGGCTCAACCTCATCTTCA	G	C44071164T	G6PC3	NM_138387.3(G6PC3):c.199_218+1del	coding	Pathogenic
17	44071171	T	TC	A44071173C	G6PC3	NM_138387.3(G6PC3):c.207dup:p.Ile70fs	coding	Pathogenic
17	44071174	TC	T	C44071175T	G6PC3	NM_001319945.2(G6PC3):c.210del:p.Phe71fs	coding	Pathogenic
17	44075012	CT	C	T44075016G	G6PC3	NM_001319945.2(G6PC3):c.416+246del	coding	Pathogenic
17	44075681	TCCA	T	C44075682T	G6PC3	NM_138387.4(G6PC3):c.680_682del:p.Ser227_Ile228delinsPhe	coding	Pathogenic
17	44075685	TC	T	C44075686A	G6PC3	NM_138387.4(G6PC3):c.684del:p.Ser229fs	coding	Pathogenic
17	44075907	A	AC	T44075914C	G6PC3	NM_001319945.2(G6PC3):c.*204dup	coding	Pathogenic
17	44075933	A	AT	C44075938T	G6PC3	NM_001319945.2(G6PC3):c.*228dup	coding	Pathogenic
17	44251263	TCAC	T	A44251268C	SLC4A1	NM_000342.4(SLC4A1):c.2545_2547GTG[1]:p.Val850del	coding	Pathogenic
17	44251435	A	ACATCTGGGTG	A44251446C	SLC4A1	NM_000342.3(SLC4A1):c.2464_2465insCACCCAGATG:p.Val822Alafs	coding	Pathogenic
17	44259838	AGGAGTGTTGGG	A	T44259843C	SLC4A1	NM_000342.4(SLC4A1):c.569_579del:p.Pro190fs	coding	Pathogenic
17	44259902	A	AC	A44259909C	SLC4A1	NM_000342.4(SLC4A1):c.515dup:p.Val173fs	coding	Pathogenic
17	44349241	G	GC	T44349245C	GRN	NM_002087.3(GRN):c.80dup:p.Val28fs	coding	Pathogenic
17	44349249	G	GC	T44349252C	GRN	NM_002087.3(GRN):c.87dup:p.Cys30fs	coding	Pathogenic
17	44349253	G	GCTGC	G44349261C	GRN	NM_002087.3(GRN):c.93_96dup:p.Asp33fs	coding	Pathogenic
17	44349262	AC	A	C44349266G	GRN	NM_002087.3(GRN):c.102del:p.Gly35fs	coding	Pathogenic
17	44349518	C	CT	C44349520T	GRN	NM_002087.3(GRN):c.232dup:p.Ser78fs	coding	Pathogenic
17	44350176	G	GAGTC	C44350182G	GRN	NM_002087.3(GRN):c.350-50_350-47dup	noncoding	Benign
17	44350259	TGATA	T	A44350261T	GRN	NM_002087.4(GRN):c.383_386del:p.Asp128fs	coding	Pathogenic
17	44350262	TAGTC	T	C44350266T	GRN	NM_002087.3(GRN):c.388_391del:p.Gln130fs	coding	Pathogenic
17	44350262	T	TA	G44350264A	GRN	NM_002087.3(GRN):c.385dup:p.Ser129fs	coding	Pathogenic
17	44350301	T	TA	T44350303A	GRN	NM_002087.3(GRN):c.424dup:p.Met142fs	coding	Pathogenic
17	44350501	T	TTGTGAAGACAGGGTGCACTGCTGTC	C44350502T	GRN	NM_002087.3(GRN):c.522_523insTGTGAAGACAGGGTGCACTGCTGTC:p.His175fs	coding	Pathogenic
17	44350538	CT	C	T44350539G	GRN	NM_002087.3(GRN):c.560del:p.Leu187fs	coding	Pathogenic
17	44350570	CAG	C	A44350571G	GRN	NM_002087.3(GRN):c.592_593del:p.Arg198fs	coding	Pathogenic
17	44350766	CCA	C	C44350767G	GRN	NM_002087.3(GRN):c.675_676del:p.Ser226fs	coding	Pathogenic
17	44351028	CCCACTCAGG	C	T44351033C	GRN	NM_002087.3(GRN):c.709-4_713del	noncoding	Pathogenic
17	44351080	C	CTG	A44351089T	GRN	NM_002087.3(GRN):c.753_754TG[5]:p.Asp254fs	coding	Pathogenic
17	44351080	CTG	C	T44351087A	GRN	NM_002087.3(GRN):c.753_754TG[3]:p.Cys253_Asp254delinsTer	coding	Pathogenic
17	44351095	T	TCC	A44351098C	GRN	NM_002087.3(GRN):c.768_769dup:p.Gln257fs	coding	Pathogenic
17	44351102	T	TA	G44351105A	GRN	NM_002087.3(GRN):c.776dup:p.Cys260fs	coding	Pathogenic
17	44351138	CCTCA	C	C44351141A	GRN	NM_002087.3(GRN):c.813_816del:p.Thr272fs	coding	Pathogenic
17	44351429	CG	C	G44351434C	GRN	NM_002087.3(GRN):c.907del:p.Ala303fs	coding	Pathogenic
17	44351688	C	CAA	G44351691A	GRN	NM_002087.3(GRN):c.1073_1074dup:p.Ala359fs	coding	Pathogenic
17	44351759	C	CA	C44351761A	GRN	NM_002087.3(GRN):c.1144dup:p.Thr382Asnfs	coding	Pathogenic
17	44352080	G	GT	G44352082T	GRN	NM_002087.3(GRN):c.1246dup:p.Cys416fs	coding	Pathogenic
17	44352391	C	CAACGT	G44352397A	GRN	NM_002087.3(GRN):c.1465_1469dup:p.Lys491fs	coding	Pathogenic
17	44374421	CA	C	A44374422G	ITGA2B	NM_000419.5(ITGA2B):c.2992del:p.Trp998fs	coding	Pathogenic
17	44374434	CCCTCT	C	T44374439C	ITGA2B	NM_000419.5(ITGA2B):c.2975_2979del:p.Glu992fs	coding	Pathogenic
17	44374686	C	CG	C44374692G	ITGA2B	NM_000419.5(ITGA2B):c.2915dup:p.Leu973fs	coding	Pathogenic
17	44374686	CG	A	C44374686A	ITGA2B	NM_000419.5(ITGA2B):c.2915_2916delinsT:p.Pro972fs	coding	Pathogenic
17	44374718	TG	T	G44374719A	ITGA2B	NM_000419.5(ITGA2B):c.2883del:p.Phe961fs	coding	Pathogenic
17	44377731	A	AC	A44377733C	ITGA2B	NM_000419.5(ITGA2B):c.2153dup:p.Cys718fs	coding	Pathogenic
17	44377736	G	GC	A44377738C	ITGA2B	NM_000419.5(ITGA2B):c.2148dup:p.Leu717fs	coding	Pathogenic/Likely_pathogenic
17	44380301	GC	G	C44380302T	ITGA2B	NM_000419.5(ITGA2B):c.1545-1del	coding	Pathogenic
17	44380490	TCTGATGGGATAGG	T	C44380491G	ITGA2B	NM_000419.5(ITGA2B):c.1440-13_1440-1del	coding	Pathogenic
17	44380900	TGTCTAC	T	T44380902G	ITGA2B	NM_000419.5(ITGA2B):c.1366_1371del:p.Val456_Asp457del	coding	Pathogenic
17	44383624	TACAC	T	A44383627G	ITGA2B	NM_000419.5(ITGA2B):c.1075_1078del:p.Val359fs	coding	Pathogenic
17	44384298	TG	T	G44384303C	ITGA2B	NM_000419.5(ITGA2B):c.891+12del	noncoding	Benign
17	44385565	AC	A	C44385566G	ITGA2B	NM_000419.5(ITGA2B):c.559del:p.Val187fs	coding	Pathogenic
17	44385705	GGGGGCGCAGGCCT	G	G44385708A	ITGA2B	NM_000419.5(ITGA2B):c.409-2_419del	coding	Pathogenic
17	44386028	AG	A	G44386032C	ITGA2B	NM_000419.5(ITGA2B):c.291del:p.Ser98fs	coding	Pathogenic
17	44386078	GTC	G	T44386081C	ITGA2B	NM_000419.5(ITGA2B):c.240_241del:p.Glu80fs	coding	Pathogenic
17	44389382	GC	G	C44389385A	ITGA2B	NM_000419.5(ITGA2B):c.91del:p.Ala31fs	coding	Pathogenic
17	44557720	T	TGATGCC	C44557722A	FZD2	NM_001466.4(FZD2):c.33_34insATGCCG:p.Leu12_Pro13insMetPro	coding	Benign
17	44851708	AC	A	C44851710T	EFTUD2	NM_004247.4(EFTUD2):c.2823+1del	noncoding	Pathogenic
17	44852422	AAGAC	A	C44852430G	EFTUD2	NM_004247.4(EFTUD2):c.2694_2697GTCT[1]:p.Val900fs	coding	Pathogenic
17	44852449	TG	T	G44852452T	EFTUD2	NM_004247.4(EFTUD2):c.2674del:p.Gln892fs	coding	Pathogenic
17	44852523	AG	A	G44852527A	EFTUD2	NM_004247.4(EFTUD2):c.2600del:p.Pro867fs	coding	Pathogenic
17	44852528	A	AG	C44852530G	EFTUD2	NM_004247.4(EFTUD2):c.2595dup:p.Ser866fs	coding	Pathogenic
17	44852562	CCT	C	C44852563G	EFTUD2	NM_004247.4(EFTUD2):c.2562-2_2562-1del	coding	Pathogenic
17	44853312	CG	C	G44853314T	EFTUD2	NM_004247.4(EFTUD2):c.2544del:p.Val849fs	coding	Pathogenic
17	44853351	C	CCT	A44853356C	EFTUD2	NM_004247.4(EFTUD2):c.2504_2505dup:p.Val836fs	coding	Pathogenic
17	44853563	TG	T	G44853565C	EFTUD2	NM_004247.4(EFTUD2):c.2419del:p.Gln807fs	coding	Pathogenic
17	44853630	G	GA	T44853633A	EFTUD2	NM_004247.4(EFTUD2):c.2352dup:p.Arg785fs	coding	Pathogenic
17	44859140	C	CTT	C44859142T	EFTUD2	NM_004247.4(EFTUD2):c.1901_1902insAA:p.Leu635fs	coding	Pathogenic
17	44859902	TA	T	A44859903C	EFTUD2	NM_004247.4(EFTUD2):c.1860+2del	noncoding	Pathogenic
17	44859985	GCTCCA	G	T44859987A	EFTUD2	NM_004247.4(EFTUD2):c.1775_1779del:p.Val592fs	coding	Pathogenic
17	44860004	AAC	A	C44860006G	EFTUD2	NM_004247.4(EFTUD2):c.1759_1760del:p.Val587fs	coding	Pathogenic
17	44862752	TG	T	G44862755A	EFTUD2	NM_004247.4(EFTUD2):c.1567del:p.Gln523fs	coding	Pathogenic
17	44862765	CA	C	A44862766T	EFTUD2	NM_004247.4(EFTUD2):c.1554del:p.Asp518fs	coding	Pathogenic
17	44862853	CTG	C	T44862854G	EFTUD2	NM_004247.4(EFTUD2):c.1465_1466del:p.Gln489fs	coding	Pathogenic
17	44863769	CAT	C	A44863770G	EFTUD2	NM_004247.4(EFTUD2):c.1297_1298del:p.Met433fs	coding	Pathogenic
17	44868279	CTACTT	C	T44868280A	EFTUD2	NM_004247.4(EFTUD2):c.1058+3_1058+7del	noncoding	Benign/Likely_benign
17	44872557	CA	C	A44872558G	EFTUD2	NM_004247.4(EFTUD2):c.882del:p.Asp295fs	coding	Pathogenic
17	44876038	C	CA	C44876040A	EFTUD2	NM_004247.4(EFTUD2):c.764dup:p.Cys256fs	coding	Pathogenic
17	44880593	TG	T	G44880595T	EFTUD2	NM_004247.4(EFTUD2):c.579del:p.Gly195fs	coding	Pathogenic
17	44885314	T	TA	C44885315A	EFTUD2	NM_004247.4(EFTUD2):c.291_292insT:p.Lys98Ter	coding	Pathogenic
17	44885341	G	GA	G44885352A	EFTUD2	NM_004247.4(EFTUD2):c.272-17dup	noncoding	Benign
17	44901648	CCCCGGTAGGTGAGGCCCTGCCCCTTTAGTCCAGCAGGATTCTCTGCCCTAAAGCTTCAATCCTGTTTTTTCATTTTGTTTTGTTTTGTTTTGTTTTTTTAACCACACATACCTCTTCTTTATTTGTCATGTTAAACCAACAGAGATAGGTTTCTGCCTCCAATCCCAGAAAGAAAAACAAACAGCAGATGGCAAAGCTGAGTTGAAGTGGGCAGAATGAGTCAGAAAGTTGGGCTAGGAAGGTCGGCTTCCCTTAGTCCTTTGACTTTCATTCTCAGATCAGAATTGGGATGCTCTGCCTCTGGGTTGTATGGTGTCTAGTGTAATGATCCTGTGGCAGTGTTGAGAGAGAGACCCCAACATTCAGATCCTTGAGTTCCTTTCTCTCTTCCTGAGATTTCCAATCAACCCATCCA	C	G44901653A	CCDC103	NM_213607.3(CCDC103):c.276+1_277-298del	coding	Pathogenic
17	44902466	T	TG	T44902472G	CCDC103	NM_213607.3(CCDC103):c.383dup:p.Pro129fs	coding	Pathogenic
17	44907369	TG	AC	T44907369A	GFAP	NM_002055.5(GFAP):c.1276_1277delinsGT:p.Gln426Val	coding	Benign
17	44908071	TC	T	C44908074G	GFAP	NM_002055.5(GFAP):c.1249del:p.Asp417fs	coding	Pathogenic
17	44910133	CAGCTAAC	GAT	C44910133G	GFAP	NM_002055.5(GFAP):c.1171+475_1171+482delinsATC	coding	Pathogenic
17	44911313	C	CTGCAAG	G44911316C	GFAP	NM_002055.5(GFAP):c.1049_1050insCTTGCA:p.Gln350_Asp351insHisLeu	coding	Pathogenic
17	44911786	CA	AG	C44911786A	GFAP	NM_002055.5(GFAP):c.791_792delinsCT:p.Leu264Pro	coding	Pathogenic
17	44914095	T	TG	A44914102G	GFAP	NM_002055.5(GFAP):c.462-13dup	noncoding	Benign/Likely_benign
17	44915106	G	GAGCCGC	T44915122C	GFAP	NM_002055.5(GFAP):c.369_374GCGGCT[3]:p.124_125RL[3]	coding	Pathogenic
17	44915113	A	AGCCGCAGCT	C44915123G	GFAP	NM_002055.5(GFAP):c.365_373dup:p.Leu125_Arg126insGlnLeuArg	coding	Pathogenic
17	44915228	CCTT	ACTC	C44915228A	GFAP	NM_002055.5(GFAP):c.256_259delinsGAGT:p.Lys86_Val87delinsGluPhe	coding	Pathogenic
17	45439481	CTG	C	T45439484G	PLEKHM1	NM_014798.3(PLEKHM1):c.3051_3052CA[1]:p.Thr1018fs	coding	Pathogenic
17	45894659	TC	T	C45894662G	MAPT	NM_005910.5(MAPT):c.-42del	noncoding	Benign
17	46024409	A	AT	A46024413T	MAPT	NM_005910.5(MAPT):c.*241dup	noncoding	Benign
17	46024483	T	TC	T46024489C	MAPT	NM_005910.5(MAPT):c.*317dup	noncoding	Benign
17	46025077	C	CCT	G46025082C	MAPT	NM_016834.5(MAPT):c.*907_*908CT[3]	noncoding	Benign
17	46025316	C	CT	G46025317T	MAPT;KANSL1	NM_001123066.3(MAPT):c.*1145_*1146insT	noncoding	Benign
17	46025375	TCA	T	A46025379G	MAPT	NM_016834.5(MAPT):c.*1206_*1207AC[1]	noncoding	Benign
17	46026079	TAG	T	A46026080T	MAPT	NM_005910.5(MAPT):c.*1909_*1910del	noncoding	Benign
17	46026561	C	CT	A46026562T	MAPT	NM_005910.5(MAPT):c.*2390_*2391insT	noncoding	Benign
17	46026912	TG	T	G46026914C	MAPT	NM_005910.5(MAPT):c.*2743del	noncoding	Benign
17	46027044	TCTC	T	C46027047A	MAPT	NM_005910.5(MAPT):c.*2876_*2878del	noncoding	Benign
17	46027210	CCTT	C	C46027214A	MAPT	NM_016834.5(MAPT):c.*3040_*3042CTT[1]	noncoding	Benign
17	46029955	CT	C	T46029967A	MAPT;KANSL1	NM_001193466.2(KANSL1):c.*1520del	noncoding	Benign
17	46030121	GT	G	T46030131C	MAPT;KANSL1	NM_001193466.2(KANSL1):c.*1354del	noncoding	Benign
17	46030147	GT	G	T46030157C	MAPT;KANSL1	NM_001193466.2(KANSL1):c.*1328del	noncoding	Benign
17	46030240	A	AT	A46030250T	MAPT	NM_001193466.2(KANSL1):c.*1235dup	noncoding	Benign
17	46030590	GA	G	A46030604T	MAPT;KANSL1	NM_001193466.2(KANSL1):c.*885del	noncoding	Benign
17	46031116	A	AGCCCTCT	G46031121T	MAPT;KANSL1	NM_001193466.2(KANSL1):c.*359_*360insAGAGGGC	noncoding	Benign
17	46032087	T	TC	T46032090C	KANSL1	NM_015443.4(KANSL1):c.3049dup:p.Asp1017fs	coding	Pathogenic
17	46032179	ACC	A	C46032180A	KANSL1	NM_015443.4(KANSL1):c.2956_2957del:p.Gly986fs	coding	Pathogenic
17	46032197	CAA	C	A46032199G	KANSL1	NM_001193466.2(KANSL1):c.2938_2939del:p.Leu980fs	coding	Pathogenic
17	46032234	T	TG	T46032241G	KANSL1	NM_015443.4(KANSL1):c.2902dup:p.Gln968fs	coding	Pathogenic
17	46033066	GCCTGCCCCATCACCTGCTGCC	G	T46033069G	KANSL1	NM_001193466.2(KANSL1):c.2830_2837+13del	noncoding	Pathogenic
17	46033130	CCT	C	T46033134C	KANSL1	NM_001193466.2(KANSL1):c.2783_2784AG[1]:p.Arg929fs	coding	Pathogenic
17	46033411	TCTC	T	C46033415A	KANSL1	NM_015443.4(KANSL1):c.2710GAG[1]:p.Glu905del	coding	Benign/Likely_benign
17	46033433	CAG	C	G46033437C	KANSL1	NM_015443.4(KANSL1):c.2692_2693del:p.Leu898fs	coding	Pathogenic
17	46034235	GT	G	T46034237G	KANSL1	NM_015443.4(KANSL1):c.2591del:p.Asn864fs	coding	Pathogenic
17	46039096	GTGGGTTGAGCAA	CAT	G46039096C	KANSL1	NM_001193466.2(KANSL1):c.2311_2323delinsATG:p.Leu771fs	coding	Pathogenic
17	46039772	C	CA	T46039774A	KANSL1	NM_001193466.2(KANSL1):c.2132dup:p.Met711fs	coding	Pathogenic
17	46039846	AT	A	T46039849C	KANSL1	NM_001193466.2(KANSL1):c.2058del:p.Lys686fs	coding	Pathogenic
17	46050682	CGGAT	C	G46050683T	KANSL1	NM_001193466.2(KANSL1):c.1867_1870del:p.Ile623fs	coding	Pathogenic
17	46066659	G	GT	G46066662T	KANSL1	NM_015443.4(KANSL1):c.1725dup:p.Arg576fs	coding	Pathogenic
17	46067618	CCAAT	C	C46067619A	KANSL1	NM_001193466.2(KANSL1):c.1579_1582del:p.Ile527fs	coding	Pathogenic
17	46082441	CA	C	A46082443T	KANSL1	NM_001193466.2(KANSL1):c.1532del:p.Lys510_Leu511insTer	coding	Pathogenic
17	46170854	CAG	C	A46170855G	KANSL1	NM_015443.4(KANSL1):c.1288_1289del:p.Leu430fs	coding	Pathogenic
17	46170874	CG	C	G46170877A	KANSL1	NM_001193466.2(KANSL1):c.1269del:p.Glu424fs	coding	Pathogenic
17	46171086	GCAGCTTCAGCCTTTCGAGT	G	T46171091A	KANSL1	NM_015443.4(KANSL1):c.1039_1057del:p.Thr347fs	coding	Pathogenic
17	46171097	CT	C	T46171100C	KANSL1	NM_001193466.2(KANSL1):c.1046del:p.Lys349fs	coding	Pathogenic
17	46171265	GT	G	T46171266C	KANSL1	NM_001193466.2(KANSL1):c.878del:p.Asp293fs	coding	Pathogenic
17	46171334	CAG	C	A46171335G	KANSL1	NM_001193466.2(KANSL1):c.808_809del:p.Leu270fs	coding	Pathogenic/Likely_pathogenic
17	46171335	AG	A	G46171339A	KANSL1	NM_001193466.2(KANSL1):c.808del:p.Leu270fs	coding	Pathogenic
17	46171364	AC	A	C46171370A	KANSL1	NM_001193466.2(KANSL1):c.779del:p.Gly260fs	coding	Pathogenic
17	46171369	C	CA	C46171370A	KANSL1	NM_015443.4(KANSL1):c.774_775insT:p.Gly259fs	coding	Pathogenic
17	46171532	A	ACCCC	T46171539C	KANSL1	NM_015443.4(KANSL1):c.608_611dup:p.Met205fs	coding	Pathogenic
17	46171571	AC	A	C46171576A	KANSL1	NM_001193466.2(KANSL1):c.572del:p.Gly191fs	coding	Pathogenic
17	46171603	GT	G	T46171607C	KANSL1	NM_001193466.2(KANSL1):c.540del:p.Lys180fs	coding	Pathogenic
17	46171606	T	TTC	C46171609T	KANSL1	NM_001193466.2(KANSL1):c.536_537dup:p.Lys180fs	coding	Pathogenic
17	46171694	TG	T	G46171696C	KANSL1	NM_001193466.2(KANSL1):c.449del:p.Pro150fs	coding	Pathogenic
17	46172180	T	TGCCGAG	A46172196G	KANSL1	NM_001193466.2(KANSL1):c.-49_-44CTCGGC[3]	noncoding	Benign
17	46192787	CAGG	C	G46192799A	KANSL1	NM_015443.4(KANSL1):c.-90+24CCT[3]	noncoding	Benign
17	46932123	TC	T	C46932125A	GOSR2	NM_004287.5(GOSR2):c.262del:p.Gln88fs	coding	Pathogenic
17	46938570	G	GT	C46938580T	GOSR2	NM_004287.4(GOSR2):c.478-20dup	noncoding	Benign
17	46938605	CAGA	C	A46938612T	GOSR2	NM_004287.5(GOSR2):c.485_487AGA[2]:p.Lys164del	coding	Pathogenic
17	47274460	C	CAGTG	C47274465A	ITGB3	NM_000212.3(ITGB3):c.122_125dup:p.Cys42Ter	coding	Pathogenic
17	47283411	TG	T	G47283412T	ITGB3	NM_000212.3(ITGB3):c.224del:p.Cys75fs	coding	Pathogenic
17	47286416	CTG	C	T47286419A	ITGB3	NM_000212.3(ITGB3):c.774_775del:p.Cys258_Asp259delinsTer	coding	Pathogenic
17	47289770	C	CT	A47289772T	ITGB3	NM_000212.3(ITGB3):c.1030dup:p.Tyr344fs	coding	Pathogenic
17	47292285	T	TA	T47292288A	ITGB3	NM_000212.2(ITGB3):c.1409dup:p.Asn470fs	coding	Pathogenic
17	47292425	AG	A	G47292428T	ITGB3	NM_000212.3(ITGB3):c.1550del:p.Gly517fs	coding	Pathogenic
17	47299407	AT	A	T47299408G	ITGB3	NM_000212.3(ITGB3):c.1791del:p.Asn597fs	coding	Pathogenic
17	47302817	TC	T	C47302819T	ITGB3	NM_000212.3(ITGB3):c.2113del:p.Leu705fs	coding	Pathogenic
17	47943372	G	TTTCCCCT	G47943372T	PNPO	NM_018129.4(PNPO):c.205delinsTTTCCCCT:p.Ala69fs	coding	Pathogenic
17	47945887	ACTGC	A	C47945891A	PNPO	NM_018129.4(PNPO):c.448_451del:p.Pro150fs	coding	Pathogenic
17	48530822	G	GGGGCGCTGT	A48530841G	HOXB1	NM_002144.4(HOXB1):c.65_73ACAGCGCCC[3]:p.His25_Ala27dup	coding	Benign
17	48804924	GCTTTCCAAAGTCGGGCA	G	T48804927G	TTLL6	NM_001366314.2(TTLL6):c.-901_-885del	coding	Benign
17	49841592	AAGG	A	G49841595A	TAC4	NM_170685.2(TAC4):c.218-11_218-9del	noncoding	Benign
17	49973760	TG	T	G49973766C	DLX4	NM_138281.3(DLX4):c.546del:p.Gln183fs	coding	Pathogenic
17	49991806	TCCCC	T	C49991807G	DLX3	NM_005220.3(DLX3):c.571_574del:p.Gly191fs	coding	Pathogenic
17	49991806	TC	T	C49991810G	DLX3	NM_005220.3(DLX3):c.574del:p.Glu192fs	coding	Pathogenic
17	49991818	TAG	T	A49991821T	DLX3	NM_005220.3(DLX3):c.559_560CT[1]:p.Tyr188fs	coding	Pathogenic
17	50166064	T	TC	T50166067C	SGCA	NM_000023.4(SGCA):c.26dup:p.Leu10fs	coding	Pathogenic
17	50167415	C	CA	C50167417A	SGCA	NM_000023.4(SGCA):c.86dup:p.His29fs	coding	Pathogenic
17	50167445	A	AT	C50167446T	SGCA	NM_000023.4(SGCA):c.115_116insT:p.Thr39fs	coding	Pathogenic
17	50167584	GT	G	T50167585C	SGCA	NM_000023.4(SGCA):c.161del:p.Val54fs	coding	Pathogenic
17	50167589	AC	A	C50167592G	SGCA	NM_000023.4(SGCA):c.168del:p.Ala57fs	coding	Pathogenic
17	50167605	A	AC	T50167608C	SGCA	NM_000023.4(SGCA):c.183dup:p.Tyr62fs	coding	Pathogenic
17	50167624	AG	A	G50167627A	SGCA	NM_000023.4(SGCA):c.203del:p.Gly68fs	coding	Pathogenic
17	50167657	AC	GA	A50167657G	SGCA	NM_000023.4(SGCA):c.233_234delinsGA:p.Tyr78Ter	coding	Pathogenic
17	50167660	C	CA	C50167661A	SGCA	NM_000023.4(SGCA):c.236_237insA:p.Gln80fs	coding	Pathogenic
17	50167948	TCA	T	C50167951G	SGCA	NM_000023.4(SGCA):c.315_316CA[1]:p.Thr106fs	coding	Pathogenic
17	50167955	C	CTACA	A50167960T	SGCA	NM_000023.4(SGCA):c.322_325dup:p.Asn109fs	coding	Pathogenic/Likely_pathogenic
17	50167980	A	ACTCGG	A50167987T	SGCA	NM_000023.4(SGCA):c.348_352dup:p.Gln118fs	coding	Pathogenic
17	50168374	GC	G	C50168379T	SGCA	NM_000023.4(SGCA):c.391del:p.Leu131fs	coding	Pathogenic
17	50168394	GC	G	C50168396G	SGCA	NM_000023.4(SGCA):c.408del:p.Glu137fs	coding	Pathogenic
17	50168476	GA	G	A50168477C	SGCA	NM_000023.4(SGCA):c.489del:p.Leu164fs	coding	Pathogenic
17	50168517	TC	T	C50168518T	SGCA	NM_000023.4(SGCA):c.530del:p.Ser177fs	coding	Pathogenic
17	50169163	ACG	A	G50169165C	SGCA	NM_000023.4(SGCA):c.658_659del:p.Ala220fs	coding	Pathogenic
17	50170163	GC	G	C50170165T	SGCA	NM_000023.4(SGCA):c.770del:p.Pro257fs	coding	Pathogenic
17	50170182	A	ACC	A50170187C	SGCA	NM_000023.4(SGCA):c.790_791dup:p.Gly265fs	coding	Pathogenic
17	50170193	T	TG	A50170197G	SGCA	NM_000023.4(SGCA):c.801dup:p.Ile268fs	coding	Pathogenic
17	50170283	GC	G	C50170287T	SGCA	NM_000023.4(SGCA):c.892del:p.Leu298fs	coding	Pathogenic
17	50175310	A	AGATG	C50175316A	SGCA	NM_000023.4(SGCA):c.1039_1042dup:p.Ala348fs	coding	Pathogenic
17	50185510	AG	A	G50185511C	COL1A1	NM_000088.3(COL1A1):c.4386del:p.Phe1463fs	coding	Pathogenic
17	50185534	CGAATT	C	G50185535C	COL1A1	NM_000088.3(COL1A1):c.4358_4362del	coding	Pathogenic
17	50185549	GGGCACCAACGTCCAAGGGGGCCA	G	G50185550C	COL1A1	NM_000088.4(COL1A1):c.4325_4347del:p.Val1442fs	coding	Pathogenic
17	50185564	A	AG	C50185570G	COL1A1	NM_000088.3(COL1A1):c.4332dup:p.Asp1446fs	coding	Pathogenic
17	50185564	A	AGGGG	C50185570G	COL1A1	NM_000088.3(COL1A1):c.4329_4332dup:p.Leu1445fs	coding	Pathogenic
17	50185569	G	GCCACATC	G50185577C	COL1A1	NM_000088.3(COL1A1):c.4321_4327dup:p.Ala1443fs	coding	Pathogenic
17	50185778	CG	C	G50185779T	COL1A1	NM_000088.3(COL1A1):c.4247del:p.Thr1416fs	coding	Pathogenic
17	50185990	CA	C	A50185991G	COL1A1	NM_000088.3(COL1A1):c.4035del:p.Ala1346fs	coding	Pathogenic
17	50186011	CA	C	A50186012T	COL1A1	NM_000088.4(COL1A1):c.4014del:p.Glu1337_Tyr1338insTer	coding	Pathogenic
17	50186500	G	GTA	C50186503T	COL1A1	NM_000088.3(COL1A1):c.3820_3821dup:p.Trp1275fs	coding	Pathogenic
17	50186502	ACTCTC	A	C50186505G	COL1A1	NM_000088.3(COL1A1):c.3815_3819delGAGAG	coding	Pathogenic
17	50186665	CT	C	T50186667G	COL1A1	NM_000088.3(COL1A1):c.3788del:p.Lys1263fs	coding	Pathogenic
17	50186684	C	CGG	C50186688G	COL1A1	NM_000088.4(COL1A1):c.3768_3769dup:p.Arg1257fs	coding	Pathogenic
17	50186701	G	GCTGCC	C50186709G	COL1A1	NM_000088.3(COL1A1):c.3748_3752dup:p.Ser1251fs	coding	Pathogenic
17	50186704	GC	G	C50186707T	COL1A1	NM_000088.4(COL1A1):c.3749del:p.Gly1250fs	coding	Pathogenic
17	50186812	GC	G	C50186813G	COL1A1	NM_000088.3(COL1A1):c.3641del:p.Arg1214fs	coding	Pathogenic
17	50186860	GA	G	A50186862G	COL1A1	NM_000088.3(COL1A1):c.3593del:p.Phe1198fs	coding	Pathogenic
17	50186886	CA	C	A50186887G	COL1A1	NM_000088.3(COL1A1):c.3567del:p.Gly1190fs	coding	Pathogenic
17	50186887	A	AG	A50186893G	COL1A1	NM_000088.3(COL1A1):c.3566dup:p.Gly1190fs	coding	Pathogenic
17	50186913	C	CG	A50186920G	COL1A1	NM_000088.3(COL1A1):c.3540dup:p.Gly1181fs	coding	Pathogenic
17	50187050	CA	C	A50187051G	COL1A1	NM_000088.3(COL1A1):c.3495del:p.Gly1166fs	coding	Pathogenic
17	50187051	AG	A	G50187056C	COL1A1	NM_000088.4(COL1A1):c.3494del:p.Pro1165fs	coding	Pathogenic
17	50187114	A	AG	A50187120G	COL1A1	NM_000088.3(COL1A1):c.3431dup:p.Gly1145fs	coding	Pathogenic
17	50187485	CG	C	G50187489A	COL1A1	NM_000088.3(COL1A1):c.3421del:p.Arg1141fs	coding	Pathogenic
17	50187507	CT	C	T50187508C	COL1A1	NM_000088.4(COL1A1):c.3399del:p.Ala1134fs	coding	Pathogenic
17	50187884	CA	C	A50187885G	COL1A1	NM_000088.3(COL1A1):c.3360del:p.Gly1121fs	coding	Pathogenic/Likely_pathogenic
17	50187959	T	TG	T50187961G	COL1A1	NM_000088.3(COL1A1):c.3285dup:p.Lys1096fs	coding	Pathogenic
17	50187960	G	GTC	A50187963T	COL1A1	NM_000088.3(COL1A1):c.3283_3284dup:p.Asp1095fs	coding	Pathogenic
17	50187974	CT	C	T50187976G	COL1A1	NM_000088.3(COL1A1):c.3270del:p.Gly1091fs	coding	Pathogenic
17	50188120	GCCGA	G	C50188122A	COL1A1	NM_000088.3(COL1A1):c.3233_3236del:p.Val1078fs	coding	Pathogenic
17	50188131	CG	C	G50188133C	COL1A1	NM_000088.3(COL1A1):c.3225del:p.Gly1076fs	coding	Pathogenic
17	50188527	TAC	T	C50188529G	COL1A1	NM_000088.3(COL1A1):c.3207+1_3207+2del	noncoding	Pathogenic
17	50188566	AACGGGGCCAGGGGC	A	G50188569C	COL1A1	NM_000088.3(COL1A1):c.3157_3170del:p.Ala1053fs	coding	Pathogenic
17	50188568	CG	C	G50188572C	COL1A1	NM_000088.3(COL1A1):c.3168del:p.Val1057fs	coding	Pathogenic
17	50188574	CA	C	A50188575G	COL1A1	NM_000088.3(COL1A1):c.3162del:p.Gly1055fs	coding	Pathogenic
17	50188576	GGGGCACCAGGAGCACCAGGAGCACCAGGGGGTCCAGC	G	C50188580G	COL1A1	NM_000088.3(COL1A1):c.3124_3160del:p.Ala1042fs	coding	Pathogenic
17	50188578	GGCACCAGGA	G	A50188596G	COL1A1	NM_000088.3(COL1A1):c.3141_3149TCCTGGTGC[1]:p.1047_1049APG[2]	coding	Pathogenic
17	50188578	G	GGCACCAGGA	G50188605A	COL1A1	NM_000088.3(COL1A1):c.3141_3149TCCTGGTGC[3]:p.1047_1049APG[4]	coding	Pathogenic
17	50188601	CA	C	A50188602G	COL1A1	NM_000088.4(COL1A1):c.3135del:p.Gly1046fs	coding	Pathogenic
17	50188604	GGG	A	G50188604A	COL1A1	NM_000088.3(COL1A1):c.3131_3133delinsT:p.Pro1044fs	coding	Pathogenic
17	50188613	CG	C	G50188617C	COL1A1	NM_000088.3(COL1A1):c.3123del:p.Ala1042fs	coding	Pathogenic
17	50188622	T	TC	T50188624C	COL1A1	NM_000088.4(COL1A1):c.3114dup:p.Thr1039fs	coding	Pathogenic
17	50188799	CAG	C	G50188815A	COL1A1	NM_000088.4(COL1A1):c.3046-20CT[7]	noncoding	Benign
17	50188799	C	CAG	A50188817G	COL1A1	NM_000088.3(COL1A1):c.3046-20CT[9]	noncoding	Benign
17	50188921	AG	A	G50188926T	COL1A1	NM_000088.3(COL1A1):c.3026del:p.Pro1009fs	coding	Pathogenic
17	50188939	AG	A	G50188945C	COL1A1	NM_000088.3(COL1A1):c.3008del:p.Pro1003fs	coding	Pathogenic
17	50188945	GC	G	C50188948A	COL1A1	NM_000088.4(COL1A1):c.3002del:p.Gly1001fs	coding	Pathogenic
17	50188956	CA	C	A50188957G	COL1A1	NM_000088.3(COL1A1):c.2991del:p.Gly998fs	coding	Pathogenic
17	50188957	AG	A	G50188962A	COL1A1	NM_000088.4(COL1A1):c.2990del:p.Pro997fs	coding	Pathogenic
17	50188962	GA	G	A50188963C	COL1A1	NM_000088.4(COL1A1):c.2985del:p.Pro997fs	coding	Pathogenic
17	50189169	GA	G	A50189170G	COL1A1	NM_000088.4(COL1A1):c.2935del:p.Ser979fs	coding	Pathogenic
17	50189170	AG	A	G50189174C	COL1A1	NM_000088.3(COL1A1):c.2934del:p.Ser979fs	coding	Pathogenic
17	50189176	CA	C	A50189177G	COL1A1	NM_000088.4(COL1A1):c.2928del:p.Gly977fs	coding	Pathogenic
17	50189189	GA	G	A50189191G	COL1A1	NM_000088.4(COL1A1):c.2915del:p.Phe972fs	coding	Pathogenic
17	50189193	CCTCT	C	T50189199C	COL1A1	NM_000088.3(COL1A1):c.2904_2905AG[2]:p.Arg970fs	coding	Pathogenic
17	50189204	TC	T	C50189205T	COL1A1	NM_000088.4(COL1A1):c.2900del:p.Arg967fs	coding	Pathogenic
17	50189215	GCA	G	C50189216G	COL1A1	NM_000088.4(COL1A1):c.2888_2889del:p.Leu963fs	coding	Pathogenic
17	50189223	AC	A	C50189225A	COL1A1	NM_000088.3(COL1A1):c.2881del:p.Val961fs	coding	Pathogenic
17	50189412	CA	C	A50189413G	COL1A1	NM_000088.4(COL1A1):c.2793del:p.Gly932fs	coding	Pathogenic
17	50189418	GGCCAG	CGCCA	G50189418C	COL1A1	NM_000088.3(COL1A1):c.2783_2788delinsTGGCG:p.Pro928fs	coding	Pathogenic
17	50189419	G	GC	A50189422C	COL1A1	NM_000088.4(COL1A1):c.2786dup:p.Ala931fs	coding	Pathogenic
17	50189421	CA	C	A50189422G	COL1A1	NM_000088.3(COL1A1):c.2784del:p.Gly929fs	coding	Pathogenic
17	50189430	CA	C	A50189431G	COL1A1	NM_000088.3(COL1A1):c.2775del:p.Gly926fs	coding	Pathogenic
17	50189431	AG	A	G50189436A	COL1A1	NM_000088.4(COL1A1):c.2774del:p.Pro925fs	coding	Pathogenic
17	50189488	G	GC	G50189491C	COL1A1	NM_000088.4(COL1A1):c.2717dup:p.Lys907fs	coding	Pathogenic
17	50189520	CA	C	A50189521G	COL1A1	NM_000088.3(COL1A1):c.2685del:p.Gly896fs	coding	Pathogenic/Likely_pathogenic
17	50189521	A	AG	T50189527G	COL1A1	NM_000088.3(COL1A1):c.2684dup:p.Gly896fs	coding	Pathogenic
17	50189521	AG	A	G50189526T	COL1A1	NM_000088.3(COL1A1):c.2684del:p.Pro895fs	coding	Pathogenic
17	50189532	C	CA	T50189534A	COL1A1	NM_000088.4(COL1A1):c.2673dup:p.Ala892fs	coding	Pathogenic
17	50189672	GACTT	G	T50189675A	COL1A1	NM_000088.3(COL1A1):c.2667+3_2667+6del	noncoding	Pathogenic
17	50190009	CA	C	A50190010G	COL1A1	NM_000088.3(COL1A1):c.2550del:p.Gly851fs	coding	Pathogenic
17	50190010	AG	A	G50190015T	COL1A1	NM_000088.3(COL1A1):c.2549del:p.Pro850fs	coding	Pathogenic
17	50190034	GC	G	C50190036A	COL1A1	NM_000088.3(COL1A1):c.2525del:p.Gly842fs	coding	Pathogenic
17	50190036	CA	C	A50190037G	COL1A1	NM_000088.4(COL1A1):c.2523del:p.Gly842fs	coding	Pathogenic
17	50190037	AG	A	G50190042A	COL1A1	NM_000088.4(COL1A1):c.2522del:p.Pro841fs	coding	Pathogenic
17	50190049	A	ATCGCCTTTAGCACCAGCATCACCAGGT	G50190093C	COL1A1	NM_000088.3(COL1A1):c.2484_2510dup:p.Glu828_Gly836dup	coding	Pathogenic
17	50190069	CA	C	A50190070C	COL1A1	NM_000088.4(COL1A1):c.2490del:p.Asp831fs	coding	Pathogenic
17	50190327	A	AG	C50190334G	COL1A1	NM_000088.4(COL1A1):c.2450dup:p.Gly818fs	coding	Pathogenic
17	50190327	AG	A	G50190333C	COL1A1	NM_000088.3(COL1A1):c.2450del:p.Pro817fs	coding	Pathogenic/Likely_pathogenic
17	50190333	GC	G	C50190335A	COL1A1	NM_000088.4(COL1A1):c.2444del:p.Gly815fs	coding	Pathogenic
17	50190353	C	CCG	G50190354C	COL1A1	NM_000088.3(COL1A1):c.2424_2425insCG:p.Gly809fs	coding	Pathogenic
17	50190353	C	CG	A50190360G	COL1A1	NM_000088.3(COL1A1):c.2424dup:p.Gly809fs	coding	Pathogenic
17	50190353	CG	C	G50190359A	COL1A1	NM_000088.3(COL1A1):c.2424del:p.Gly809fs	coding	Pathogenic
17	50190542	CG	C	G50190547C	COL1A1	NM_000088.4(COL1A1):c.2397del:p.Gly800fs	coding	Pathogenic
17	50190861	CA	TG	C50190861T	COL1A1	NM_000088.3(COL1A1):c.2298_2299inv:p.Gly767Ser	coding	Pathogenic
17	50190906	CT	C	T50190909G	COL1A1	NM_000088.4(COL1A1):c.2253del:p.Gly752fs	coding	Pathogenic
17	50191400	CT	C	T50191401G	COL1A1	NM_000088.3(COL1A1):c.2217del:p.Pro741fs	coding	Pathogenic
17	50191445	CA	C	A50191446G	COL1A1	NM_000088.3(COL1A1):c.2172del:p.Gly725fs	coding	Pathogenic
17	50191478	CA	C	A50191479C	COL1A1	NM_000088.3(COL1A1):c.2139del:p.Ala714fs	coding	Pathogenic
17	50191812	AC	A	C50191814G	COL1A1	NM_000088.4(COL1A1):c.2102del:p.Gly701fs	coding	Pathogenic
17	50191822	CCT	C	T50191824G	COL1A1	NM_000088.3(COL1A1):c.2091_2092del:p.Ala699fs	coding	Pathogenic
17	50191830	AC	A	C50191832A	COL1A1	NM_000088.4(COL1A1):c.2084del:p.Gly695fs	coding	Pathogenic
17	50191841	CA	C	A50191842G	COL1A1	NM_000088.3(COL1A1):c.2073del:p.Gly692fs	coding	Pathogenic
17	50191852	TGCACA	T	G50191853C	COL1A1	NM_000088.4(COL1A1):c.2058_2062del:p.Val687fs	coding	Pathogenic
17	50191997	CA	C	A50191998G	COL1A1	NM_000088.3(COL1A1):c.2010del:p.Gly671fs	coding	Pathogenic
17	50192022	AC	A	C50192025T	COL1A1	NC_000017.11:g.50192025del	coding	Pathogenic
17	50192806	AG	C	A50192806C	COL1A1	NM_000088.3(COL1A1):c.1865_1866delinsG:p.Pro622fs	coding	Pathogenic
17	50192806	AGGGG	A	G50192808T	COL1A1	NM_000088.3(COL1A1):c.1862_1865del:p.Pro621fs	coding	Pathogenic
17	50192814	CCTGAG	C	G50192817C	COL1A1	NM_000088.4(COL1A1):c.1853_1857del:p.Ala618fs	coding	Pathogenic
17	50192824	AGCC	A	G50192825T	COL1A1	NM_000088.3(COL1A1):c.1845_1847del:p.Glu615_Ala616delinsAsp	coding	Pathogenic
17	50193041	GCT	G	T50193045C	COL1A1	NM_000088.3(COL1A1):c.1770_1771AG[1]:p.Glu591fs	coding	Pathogenic
17	50193989	CG	C	G50193992C	COL1A1	NM_000088.3(COL1A1):c.1720del:p.Arg574fs	coding	Pathogenic
17	50193989	CGGGCACCA	C	G50193992T	COL1A1	NM_000088.4(COL1A1):c.1713_1720del:p.Gly572fs	coding	Pathogenic
17	50194006	TG	T	G50194011T	COL1A1	NM_000088.3(COL1A1):c.1703del:p.Pro568fs	coding	Pathogenic
17	50194145	GC	G	C50194147A	COL1A1	NM_000088.3(COL1A1):c.1652del:p.Gly551fs	coding	Pathogenic
17	50194151	AG	A	G50194153A	COL1A1	NM_000088.4(COL1A1):c.1646del:p.Pro549fs	coding	Pathogenic
17	50194179	AG	A	G50194180A	COL1A1	NM_000088.3(COL1A1):c.1618del:p.Gly539_Leu540insTer	coding	Pathogenic
17	50194351	TG	T	G50194353C	COL1A1	NM_000088.3(COL1A1):c.1611del:p.Lys538fs	coding	Pathogenic
17	50194361	CA	C	A50194362G	COL1A1	NM_000088.4(COL1A1):c.1601del:p.Leu534fs	coding	Pathogenic
17	50194400	TC	T	C50194402T	COL1A1	NM_000088.4(COL1A1):c.1562del:p.Gly521fs	coding	Pathogenic
17	50194590	CAT	C	A50194591C	COL1A1	NM_000088.3(COL1A1):c.1496_1497del:p.Asp499fs	coding	Pathogenic
17	50194595	GC	G	C50194596G	COL1A1	NM_000088.3(COL1A1):c.1492del:p.Ala498fs	coding	Pathogenic
17	50194729	CA	C	A50194730G	COL1A1	NM_000088.3(COL1A1):c.1452del:p.Gly485fs	coding	Pathogenic
17	50194787	CT	C	T50194788C	COL1A1	NM_000088.3(COL1A1):c.1394del:p.Glu465fs	coding	Pathogenic
17	50194799	GC	G	C50194801A	COL1A1	NM_000088.3(COL1A1):c.1382del:p.Gly461fs	coding	Pathogenic
17	50194802	AG	A	G50194807T	COL1A1	NM_000088.3(COL1A1):c.1379del:p.Pro460fs	coding	Pathogenic
17	50195063	CCA	C	C50195064G	COL1A1	NM_000088.4(COL1A1):c.1335_1336del:p.Gly446fs	coding	Pathogenic
17	50195094	GT	G	T50195096C	COL1A1	NM_000088.4(COL1A1):c.1305del:p.Glu435fs	coding	Pathogenic
17	50195098	AC	A	C50195101T	COL1A1	NM_000088.3(COL1A1):c.1301delG:p.Gly434Valfs	coding	Pathogenic
17	50195238	AC	A	C50195241T	COL1A1	NM_000088.3(COL1A1):c.1292del:p.Gly431fs	coding	Pathogenic
17	50195249	CA	C	A50195250G	COL1A1	NM_000088.4(COL1A1):c.1281del:p.Gly428fs	coding	Pathogenic
17	50195261	CG	C	G50195265C	COL1A1	NM_000088.3(COL1A1):c.1269del:p.Gly424fs	coding	Pathogenic
17	50195269	TG	T	G50195273T	COL1A1	NM_000088.3(COL1A1):c.1261del:p.Gln421fs	coding	Pathogenic
17	50195283	GC	G	C50195285T	COL1A1	NM_000088.3(COL1A1):c.1247del:p.Gly416fs	coding	Pathogenic
17	50195434	ATTGGCACC	A	G50195437T	COL1A1	NM_000088.3(COL1A1):c.1192_1199del:p.Gly398fs	coding	Pathogenic
17	50195593	CA	C	A50195594G	COL1A1	NM_000088.3(COL1A1):c.1128del:p.Gly377fs	coding	Pathogenic
17	50195594	A	AG	C50195601G	COL1A1	NM_000088.3(COL1A1):c.1127dup:p.Gly377fs	coding	Pathogenic
17	50195594	AG	A	G50195600C	COL1A1	NM_000088.4(COL1A1):c.1127del:p.Pro376fs	coding	Pathogenic
17	50195600	GC	G	C50195602A	COL1A1	NM_000088.3(COL1A1):c.1121del:p.Gly374fs	coding	Pathogenic
17	50195619	CCCTGGGGACCTTCAGAG	C	G50195623C	COL1A1	NM_000088.3(COL1A1):c.1086_1102del:p.Ser363fs	coding	Pathogenic
17	50195935	A	AGC	A50195938G	COL1A1	NM_000088.4(COL1A1):c.1042_1043dup:p.Val349fs	coding	Pathogenic
17	50196155	AG	A	G50196160C	COL1A1	NM_000088.3(COL1A1):c.1001del:p.Pro334fs	coding	Pathogenic
17	50196178	C	CACCATCA	T50196186A	COL1A1	NM_000088.3(COL1A1):c.972_978dup:p.Ala327Ter	coding	Pathogenic
17	50196194	A	AG	C50196196G	COL1A1	NM_000088.3(COL1A1):c.962dup:p.Arg322fs	coding	Pathogenic
17	50196332	AG	A	G50196335C	COL1A1	NM_000088.4(COL1A1):c.938del:p.Pro313fs	coding	Pathogenic
17	50196345	TCACCAG	ACCTCTCA	T50196345A	COL1A1	NM_000088.3(COL1A1):c.920_926delinsTGAGAGGT:p.Pro307fs	coding	Pathogenic
17	50196490	AC	A	C50196492A	COL1A1	NM_000088.3(COL1A1):c.896del:p.Gly299fs	coding	Pathogenic
17	50196626	AGCAGGACC	A	G50196627A	COL1A1	NM_000088.3(COL1A1):c.841_848del:p.Gly281fs	coding	Pathogenic
17	50196641	TC	AA	T50196641A	COL1A1	NM_000088.4(COL1A1):c.833_834delinsTT:p.Gly278Val	coding	Pathogenic
17	50196664	TGAAACCCTAAAGCAGGAAAGAGGTAGAAGGTAAGAACCTGTG	T	A50196667G	COL1A1	NM_000088.3(COL1A1):c.805-36_810del	coding	Pathogenic
17	50197011	CTG	C	G50197015C	COL1A1	NM_000088.3(COL1A1):c.799_800CA[1]:p.His267fs	coding	Pathogenic
17	50197011	CTGTG	C	G50197013C	COL1A1	NM_000088.3(COL1A1):c.799_802del:p.His267fs	coding	Pathogenic
17	50197043	TC	T	C50197045G	COL1A1	NM_000088.3(COL1A1):c.770del:p.Gly257fs	coding	Pathogenic
17	50197198	A	AG	C50197199G	COL1A1	NM_000088.3(COL1A1):c.731_732insC:p.Gly245fs	coding	Pathogenic
17	50197749	CA	C	A50197750G	COL1A1	NM_000088.3(COL1A1):c.678del:p.Gly227fs	coding	Pathogenic
17	50198169	CA	C	A50198170G	COL1A1	NM_000088.3(COL1A1):c.579del:p.Gly194fs	coding	Pathogenic/Likely_pathogenic
17	50198170	A	AG	C50198177G	COL1A1	NM_000088.4(COL1A1):c.578dup:p.Gly194fs	coding	Pathogenic
17	50198176	GC	G	C50198178A	COL1A1	NM_000088.3(COL1A1):c.572del:p.Gly191fs	coding	Pathogenic
17	50198185	AC	T	A50198185T	COL1A1	NM_000088.3(COL1A1):c.563_564delinsA:p.Gly188fs	coding	Pathogenic
17	50198203	AC	A	C50198206T	COL1A1	NC_000017.11:g.50198206del	coding	Pathogenic
17	50198465	AT	A	T50198468C	COL1A1	NM_000088.4(COL1A1):c.510del:p.Lys170fs	coding	Pathogenic
17	50198476	T	TAGCCATAAGACAGCTGGGG	A50198499C	COL1A1	NM_000088.3(COL1A1):c.481_499dup:p.Tyr167fs	coding	Pathogenic
17	50199237	CA	C	A50199238G	COL1A1	NM_000088.4(COL1A1):c.459del:p.Gly154fs	coding	Pathogenic
17	50199238	A	AG	T50199244G	COL1A1	NM_000088.3(COL1A1):c.458dup:p.Gly154fs	coding	Pathogenic
17	50199238	AG	A	G50199243T	COL1A1	NM_000088.4(COL1A1):c.458del:p.Pro153fs	coding	Pathogenic
17	50199255	CG	C	G50199261T	COL1A1	NM_000088.4(COL1A1):c.441del:p.Gly148fs	coding	Pathogenic
17	50199264	C	CG	T50199271G	COL1A1	NM_000088.3(COL1A1):c.432dup:p.Gly145fs	coding	Pathogenic
17	50199309	CA	C	A50199310G	COL1A1	NM_000088.3(COL1A1):c.387del:p.Gly130fs	coding	Pathogenic
17	50199310	A	AG	C50199317G	COL1A1	NM_000088.3(COL1A1):c.386dup:p.Gly130fs	coding	Pathogenic
17	50199310	AG	A	G50199316C	COL1A1	NM_000088.4(COL1A1):c.386del:p.Pro129fs	coding	Pathogenic
17	50199575	TGGTC	T	C50199579G	COL1A1	NM_000088.4(COL1A1):c.310_313del:p.Asp104fs	coding	Pathogenic
17	50199698	AGCCCCAG	A	A50199732G	COL1A1	NM_000088.3(COL1A1):c.298+20CTGGGGC[4]	noncoding	Benign
17	50199718	AG	CA	A50199718C	COL1A1	NM_000088.4(COL1A1):c.298+34_298+35delinsTG	noncoding	Benign
17	50199764	GGGCAGACGGGACAGCACTCGCCCTCGGGGACTTC	G	A50199768G	COL1A1	NM_000088.4(COL1A1):c.253_286del:p.Glu85fs	coding	Pathogenic
17	50199838	A	AT	C50199840T	COL1A1	NM_000088.3(COL1A1):c.212dup:p.Asp71fs	coding	Pathogenic
17	50199852	TGC	GGCAACA	T50199852G	COL1A1	NM_000088.3(COL1A1):c.197_199delinsTGTTGCC:p.Gly66fs	coding	Pathogenic
17	50199888	GT	G	T50199891C	COL1A1	NM_000088.3(COL1A1):c.162del:p.Lys54fs	coding	Pathogenic
17	50199933	AGGTGATT	A	A50199938G	COL1A1	NM_000088.3(COL1A1):c.111_117del:p.Ile38fs	coding	Pathogenic
17	50201442	CT	C	T50201443C	COL1A1	NM_000088.4(COL1A1):c.71del:p.Glu24fs	coding	Pathogenic
17	50201443	TCTTGGC	T	T50201445G	COL1A1	NM_000088.3(COL1A1):c.65_70del:p.Gly22_Gln23del	coding	Pathogenic
17	50354012	TG	T	G50354014C	XYLT2	NM_022167.4(XYLT2):c.520del:p.Ala174fs	coding	Pathogenic
17	50354465	G	GC	G50354472C	XYLT2	NM_022167.4(XYLT2):c.692dup:p.Val232fs	coding	Pathogenic
17	50356220	TC	T	C50356225A	XYLT2	NM_022167.4(XYLT2):c.1446del:p.Asn483fs	coding	Pathogenic
17	50541664	GT	G	T50541666G	EPN3	NM_017957.3(EPN3):c.1557del:p.Ala520fs	coding	Benign
17	50568985	AGT	A	G50569014T	CACNA1G	NM_018896.5(CACNA1G):c.354+5GT[14]	noncoding	Benign
17	56594284	C	CG	C56594288G	NOG	NM_005450.6(NOG):c.64dup:p.Ala22fs	coding	Pathogenic
17	56594580	GA	G	A56594581T	NOG	NM_005450.6(NOG):c.358del:p.Ile120fs	coding	Pathogenic
17	56835239	AC	A	C56835242A	DGKE	NM_003647.3(DGKE):c.447del:p.Lys150fs	coding	Pathogenic
17	56844157	CA	C	A56844164C	DGKE	NM_003647.3(DGKE):c.610del:p.Thr204fs	coding	Pathogenic
17	56844157	C	CA	C56844165A	DGKE	NM_003647.3(DGKE):c.610dup:p.Thr204fs	coding	Pathogenic
17	58206342	C	CG	C58206344G	MKS1	NM_001165927.1(MKS1):c.1498dup:p.Arg500fs	coding	Pathogenic
17	58206501	G	GTGCC	T58206508C	MKS1	NM_001165927.1(MKS1):c.1420_1423dup:p.Thr475fs	coding	Pathogenic/Likely_pathogenic
17	58206543	T	TC	T58206549C	MKS1	NM_017777.4(MKS1):c.1408-1dup	coding	Pathogenic
17	58207097	TG	T	G58207099T	MKS1	NM_001165927.1(MKS1):c.1364del:p.Pro455fs	coding	Pathogenic/Likely_pathogenic
17	58207917	GC	G	C58207921A	MKS1	NM_001165927.1(MKS1):c.1219del:p.Ala407fs	coding	Pathogenic
17	58208152	TAGG	T	G58208155A	MKS1	NM_001165927.1(MKS1):c.1085_1087del:p.Ser362del	coding	Pathogenic/Likely_pathogenic
17	58208155	GAGA	G	A58208158T	MKS1	NM_001165927.1(MKS1):c.1082_1084del:p.Phe361del	coding	Pathogenic
17	58212356	TGCA	T	C58212358G	MKS1	NM_017777.4(MKS1):c.915+19_915+21del	noncoding	Benign
17	58213072	C	CG	T58213073G	MKS1	NM_001165927.1(MKS1):c.737_738insC:p.Glu246fs	coding	Pathogenic
17	58214338	C	CAGAA	T58214339A	MKS1	NM_017777.4(MKS1):c.564_565insTTCT:p.Glu189delinsPheTer	coding	Pathogenic
17	58216123	AG	A	G58216125T	MKS1	NM_001165927.1(MKS1):c.351del:p.Tyr118fs	coding	Pathogenic
17	58216279	CATTATAATACATCAAACTTTTGCTTCTGTAACTGTTTAATCAAATCAGTTCTACAGAACTGATGCTATCTGACATGTTTTCATAACCAACACTAAACTAATGAATGGCAGGGGAACCAAGAACATTAGAGCTAAAAGGAACCA	C	A58216280G	MKS1	NM_001165927.1(MKS1):c.232-179_232-37del	noncoding	Pathogenic
17	58218715	CT	C	T58218718G	MKS1	NM_017777.4(MKS1):c.94del:p.Arg32fs	coding	Pathogenic
17	58219176	C	CCCGGG	A58219182C	MKS1	NM_001165927.1(MKS1):c.50+281_50+285dup	coding	Pathogenic
17	58244088	GAGAC	G	G58244090C	LPO	NM_006151.3(LPO):c.164+9_164+12del	noncoding	Benign
17	58244090	G	GAC	T58244133A	LPO	NM_006151.3(LPO):c.164+10AC[22]	noncoding	Benign
17	58273466	GGGGTTGGGTTCCAT	G	T58273470C	MPO	NM_000250.2(MPO):c.1555_1568del:p.Met519fs	coding	Pathogenic/Likely_pathogenic
17	58587937	CTGCCGGTGGCT	C	C58587940A	TEX14	NM_031272.4(TEX14):c.2650_2660del:p.Ser884fs	coding	Pathogenic
17	58692690	GT	G	T58692693C	RAD51C	NM_058216.3(RAD51C):c.50del:p.Phe17fs	coding	Pathogenic
17	58692693	TCC	T	C58692695G	RAD51C	NM_058216.3(RAD51C):c.52_53del:p.Pro18fs	coding	Pathogenic
17	58692706	A	AGCGGT	G58692716T	RAD51C	NM_058216.3(RAD51C):c.68_72dup:p.Val25fs	coding	Pathogenic
17	58692716	G	TTC	G58692716T	RAD51C	NM_058216.3(RAD51C):c.73delinsTTC:p.Val25fs	coding	Pathogenic
17	58692730	T	TG	C58692732G	RAD51C	NM_058216.3(RAD51C):c.88dup:p.Ala30fs	coding	Pathogenic
17	58692732	CG	C	G58692736T	RAD51C	NM_058216.3(RAD51C):c.93del:p.Phe32fs	coding	Pathogenic
17	58692739	CCA	C	C58692740G	RAD51C	NM_058216.3(RAD51C):c.97_98del:p.Gln33fs	coding	Pathogenic
17	58692746	G	GC	T58692748C	RAD51C	NM_058216.3(RAD51C):c.104dup:p.Ala35_Glu36insTer	coding	Pathogenic
17	58694942	TC	T	C58694943T	RAD51C	NM_058216.3(RAD51C):c.158del:p.Ser53fs	coding	Pathogenic
17	58694943	CTA	TT	C58694943T	RAD51C	NM_058216.3(RAD51C):c.158_160delinsTT:p.Ser53fs	coding	Pathogenic
17	58694963	ACT	A	C58694966G	RAD51C	NM_058216.3(RAD51C):c.179_180CT[1]:p.Leu61fs	coding	Pathogenic
17	58694969	CAA	C	A58694971T	RAD51C	NM_058216.3(RAD51C):c.186_187del:p.Gln62fs	coding	Pathogenic
17	58694983	A	AGAAT	T58694989A	RAD51C	NM_058216.3(RAD51C):c.200_203dup:p.Cys68Ter	coding	Pathogenic
17	58694998	TAAACC	T	A58695001G	RAD51C	NM_058216.3(RAD51C):c.216_220del:p.Pro73fs	coding	Pathogenic
17	58695006	G	GAT	G58695011A	RAD51C	NM_058216.3(RAD51C):c.222_223AT[3]:p.Ala76fs	coding	Pathogenic
17	58695008	T	TA	T58695010A	RAD51C	NM_058216.3(RAD51C):c.224dup:p.Tyr75Ter	coding	Pathogenic
17	58695009	AT	A	T58695010G	RAD51C	NM_058216.3(RAD51C):c.225del:p.Arg74_Tyr75insTer	coding	Pathogenic
17	58695013	TG	T	G58695015T	RAD51C	NM_058216.3(RAD51C):c.230del:p.Gly77fs	coding	Pathogenic
17	58695098	T	TA	C58695099A	RAD51C	NM_058216.3(RAD51C):c.313_314insA:p.Ser105fs	coding	Pathogenic
17	58695147	CAG	C	G58695149A	RAD51C	NM_058216.3(RAD51C):c.364_365del:p.Glu122fs	coding	Pathogenic
17	58695148	AGAAATTTG	C	A58695148C	RAD51C	NM_058216.3(RAD51C):c.363_371delinsC:p.Glu122fs	coding	Pathogenic
17	58695164	C	CG	C58695165G	RAD51C	NM_058216.3(RAD51C):c.379_380insG:p.Pro127fs	coding	Pathogenic
17	58695174	G	GA	C58695180A	RAD51C	NM_058216.3(RAD51C):c.394dup:p.Thr132fs	coding	Pathogenic
17	58696719	T	TA	C58696721A	RAD51C	NM_058216.3(RAD51C):c.432dup:p.Pro145fs	coding	Pathogenic
17	58696720	AC	A	C58696722A	RAD51C	NM_058216.3(RAD51C):c.434del:p.Pro145fs	coding	Pathogenic
17	58696735	AG	T	A58696735T	RAD51C	NM_058216.3(RAD51C):c.447_448delinsT:p.Gly150fs	coding	Pathogenic
17	58696784	GT	G	T58696786G	RAD51C	NM_058216.3(RAD51C):c.498del:p.Asp167fs	coding	Pathogenic
17	58696787	G	GAT	G58696791T	RAD51C	NM_058216.3(RAD51C):c.501_502dup:p.Arg168fs	coding	Pathogenic
17	58696806	C	CT	A58696808T	RAD51C	NM_058216.3(RAD51C):c.519dup:p.Thr174fs	coding	Pathogenic
17	58696811	G	GC	T58696814C	RAD51C	NM_058216.3(RAD51C):c.525dup:p.Cys176fs	coding	Pathogenic
17	58696822	GC	G	C58696823A	RAD51C	NM_058216.3(RAD51C):c.535del:p.His179fs	coding	Pathogenic
17	58696845	AAC	A	C58696849A	RAD51C	NM_058216.3(RAD51C):c.559_560CA[1]:p.His187fs	coding	Pathogenic/Likely_pathogenic
17	58696849	CAAGG	C	A58696850G	RAD51C	NM_058216.3(RAD51C):c.562_565del:p.Lys188fs	coding	Pathogenic
17	58703218	TTTCACTC	T	C58703221G	RAD51C	NM_058216.3(RAD51C):c.597_603del:p.Phe199fs	coding	Pathogenic
17	58703243	CAT	C	A58703246T	RAD51C	NM_058216.3(RAD51C):c.620_621AT[1]:p.Ile208fs	coding	Pathogenic
17	58703244	ATATT	A	T58703249A	RAD51C	NM_058216.3(RAD51C):c.621_624TATT[1]:p.Tyr209fs	coding	Pathogenic
17	58703270	TAC	T	C58703274G	RAD51C	NM_058216.3(RAD51C):c.648_649CA[1]:p.Thr217fs	coding	Pathogenic
17	58703274	CAG	C	A58703277T	RAD51C	NM_058216.3(RAD51C):c.651_652AG[1]:p.Glu218fs	coding	Pathogenic/Likely_pathogenic
17	58703297	CT	C	T58703299C	RAD51C	NM_058216.3(RAD51C):c.675del:p.Leu226fs	coding	Pathogenic
17	58703325	CA	C	A58703328G	RAD51C	NM_058216.3(RAD51C):c.704del:p.Lys235fs	coding	Pathogenic
17	58709883	AT	A	T58709885G	RAD51C	NM_058216.3(RAD51C):c.732del:p.Ile244fs	coding	Pathogenic/Likely_pathogenic
17	58709926	GT	G	T58709927A	RAD51C	NM_058216.3(RAD51C):c.774del:p.Thr259fs	coding	Pathogenic/Likely_pathogenic
17	58709971	CA	C	A58709974T	RAD51C	NM_058216.3(RAD51C):c.821del:p.Asn274fs	coding	Pathogenic
17	58720756	CCAAT	C	A58720759G	RAD51C	NM_058216.3(RAD51C):c.851_854del:p.Asn284fs	coding	Pathogenic
17	58720756	C	CCAAT	G58720763A	RAD51C	NM_058216.3(RAD51C):c.851_854dup:p.Met286fs	coding	Pathogenic
17	58720794	TTGCTTGTTCC	T	T58720798A	RAD51C	NM_058216.3(RAD51C):c.890_899del:p.Leu297fs	coding	Pathogenic
17	58724036	TCAGGG	T	C58724037G	RAD51C	NM_058216.3(RAD51C):c.905-3_906del	noncoding	Pathogenic/Likely_pathogenic
17	58724037	CAG	C	A58724038G	RAD51C	NM_058216.3(RAD51C):c.905-2_905-1del	noncoding	Pathogenic/Likely_pathogenic
17	58724042	GA	G	A58724045G	RAD51C	NM_058216.3(RAD51C):c.910del:p.Ser304fs	coding	Pathogenic/Likely_pathogenic
17	58732547	CAGT	C	G58732549T	RAD51C	NM_058216.3(RAD51C):c.1026+5_1026+7del	noncoding	Pathogenic/Likely_pathogenic
17	59028459	TC	T	C59028461A	TRIM37	NM_015294.6(TRIM37):c.2212del:p.Glu738fs	coding	Pathogenic
17	59051299	TGAAA	T	A59051305T	TRIM37	NM_015294.6(TRIM37):c.1225_1228del:p.Phe409fs	coding	Pathogenic
17	59106909	A	AG	A59106914G	TRIM37	NM_001005207.3(TRIM37):c.-449dupC	noncoding	Benign
17	59660395	TGTCA	T	C59660398G	CLTC	NM_004859.4(CLTC):c.977_980del:p.Ser326fs	coding	Pathogenic
17	59661581	TG	T	G59661582T	CLTC	NM_004859.4(CLTC):c.1307del:p.Cys436fs	coding	Pathogenic
17	59663894	TG	T	G59663896C	CLTC	NM_004859.4(CLTC):c.1423del:p.Ala475fs	coding	Pathogenic
17	59666568	AGC	A	C59666570T	CLTC	NM_004859.4(CLTC):c.1873_1874del:p.Arg625fs	coding	Pathogenic
17	59666609	CGTGC	AGA	C59666609A	CLTC	NM_004859.4(CLTC):c.1912_1916delinsAGA:p.Ala639fs	coding	Pathogenic
17	59677041	CAT	C	T59677043G	CLTC	NM_004859.4(CLTC):c.2651_2652del:p.Ile884fs	coding	Pathogenic
17	59677123	A	AAG	T59677131G	CLTC	NM_004859.4(CLTC):c.2733_2734GA[4]:p.Asp913fs	coding	Pathogenic
17	59677184	TTA	T	T59677185A	CLTC	NM_004859.4(CLTC):c.2793_2794del:p.Asn932fs	coding	Pathogenic
17	59679425	GTC	G	C59679427T	CLTC	NM_004859.4(CLTC):c.2827_2828del:p.Leu943fs	coding	Pathogenic
17	59682663	ATGC	A	G59682668A	CLTC	NM_004859.4(CLTC):c.3637_3639GCT[1]:p.Ala1214del	coding	Pathogenic
17	59685188	C	CA	G59685190A	CLTC	NM_004859.4(CLTC):c.4568dup:p.Ser1524fs	coding	Pathogenic
17	59685195	T	TA	G59685197A	CLTC	NM_004859.4(CLTC):c.4575dup:p.Glu1526fs	coding	Pathogenic
17	59697708	CAG	C	A59697709C	PTRH2	NM_001015509.2(PTRH2):c.272_273del:p.Ala91fs	coding	Pathogenic
17	60656791	CA	C	A60656793G	PPM1D	NM_003620.3(PPM1D):c.1212del:p.Glu405fs	coding	Pathogenic
17	60656794	GA	G	A60656797C	PPM1D	NM_003620.3(PPM1D):c.1216del:p.Thr406fs	coding	Pathogenic
17	60656826	TACACC	T	A60656829C	PPM1D	NM_003620.3(PPM1D):c.1248_1252del:p.Pro417fs	coding	Pathogenic
17	60656826	T	TACAC	C60656831A	PPM1D	NM_003620.3(PPM1D):c.1246_1247AC[4]:p.Pro417fs	coding	Pathogenic
17	60656829	A	AC	A60656832C	PPM1D	NM_003620.3(PPM1D):c.1250dup:p.Pro418fs	coding	Pathogenic
17	60656838	C	CA	G60656841A	PPM1D	NM_003620.4(PPM1D):c.1259dup:p.Ser421fs	coding	Pathogenic
17	60663002	A	AG	A60663005G	PPM1D	NM_003620.3(PPM1D):c.1270dup:p.Glu424fs	coding	Pathogenic
17	60663002	AGG	A	G60663003A	PPM1D	NM_003620.4(PPM1D):c.1269_1270del:p.Glu424fs	coding	Pathogenic
17	60663003	G	GGAGGA	T60663009G	PPM1D	NM_003620.4(PPM1D):c.1270_1274dup:p.Asp425fs	coding	Pathogenic
17	60663008	ATCCATGG	A	T60663009C	PPM1D	NM_003620.4(PPM1D):c.1275_1281del:p.Pro426fs	coding	Pathogenic
17	60663122	GT	A	G60663122A	PPM1D	NM_003620.4(PPM1D):c.1388_1389delinsA:p.Gly463fs	coding	Pathogenic
17	60663262	CA	C	A60663269T	PPM1D	NM_003620.4(PPM1D):c.1535del:p.Asn512fs	coding	Pathogenic
17	61457598	CG	C	G61457601C	TBX4	NM_001321120.2(TBX4):c.251del:p.Gly84fs	coding	Pathogenic
17	61465891	C	CA	T61465893A	TBX4	NM_001321120.2(TBX4):c.355dup:p.Ile119fs	coding	Pathogenic
17	61478712	CT	C	T61478713G	TBX4	NM_001321120.2(TBX4):c.636del:p.Ala213fs	coding	Pathogenic
17	61483613	A	AGT	A61483654G	TBX4	NM_001321120.2(TBX4):c.*98_*99GT[21]	noncoding	Benign
17	61683556	A	AATCTGAATT	G61683566A	BRIP1	NM_032043.3(BRIP1):c.3481_3489dup:p.Asn1161_Asp1163dup	coding	Pathogenic
17	61684041	C	CAGCTGTCA	A61684046G	BRIP1	NM_032043.2(BRIP1):c.3004_3005insTGACAGCT:p.Trp1002fs	coding	Pathogenic
17	61684047	ACT	A	C61684052T	BRIP1	NM_032043.3(BRIP1):c.2993_2994AG[2]:p.Arg999fs	coding	Pathogenic
17	61684050	CTCTT	C	C61684052G	BRIP1	NM_032043.2(BRIP1):c.2992_2995del:p.Lys998fs	coding	Pathogenic/Likely_pathogenic
17	61684052	C	CTTTG	G61684067T	BRIP1	NM_032043.3(BRIP1):c.2982_2985CAAA[4]:p.Lys998fs	coding	Pathogenic
17	61684052	CTT	C	T61684054G	BRIP1	NM_032043.2(BRIP1):c.2992_2993del:p.Lys998fs	coding	Pathogenic/Likely_pathogenic
17	61684052	CTTTG	C	T61684063G	BRIP1	NM_032043.2(BRIP1):c.2990_2993delCAAA	coding	Pathogenic/Likely_pathogenic
17	61684071	GT	G	T61684073G	BRIP1	NM_032043.2(BRIP1):c.2974del:p.Thr992fs	coding	Pathogenic
17	61684083	GA	G	A61684084T	BRIP1	NM_032043.3(BRIP1):c.2962del:p.Ser988fs	coding	Pathogenic
17	61684098	A	AT	C61684105T	BRIP1	NM_032043.2(BRIP1):c.2947dup:p.Ile983fs	coding	Pathogenic/Likely_pathogenic
17	61684098	AT	A	T61684104C	BRIP1	NM_032043.2(BRIP1):c.2947del:p.Ile983fs	coding	Pathogenic/Likely_pathogenic
17	61685907	TC	T	C61685909T	BRIP1	NM_032043.2(BRIP1):c.2833del:p.Glu945fs	coding	Pathogenic
17	61685910	TG	T	G61685912A	BRIP1	NM_032043.3(BRIP1):c.2830del:p.Gln944fs	coding	Pathogenic
17	61685912	GAC	G	C61685916T	BRIP1	NM_032043.3(BRIP1):c.2825_2826GT[1]:p.Val943fs	coding	Pathogenic
17	61685948	TG	T	G61685950T	BRIP1	NM_032043.2(BRIP1):c.2792del:p.Pro931fs	coding	Pathogenic
17	61685951	TGATA	T	A61685955G	BRIP1	NM_032043.2(BRIP1):c.2786_2789del:p.Leu929fs	coding	Pathogenic/Likely_pathogenic
17	61685951	T	TGATA	G61685959A	BRIP1	NM_032043.2(BRIP1):c.2786_2789dup:p.Pro931fs	coding	Pathogenic
17	61685984	T	TG	A61685986G	BRIP1	NM_032043.3(BRIP1):c.2756dup:p.Pro920fs	coding	Pathogenic
17	61686003	GA	G	A61686004G	BRIP1	NM_032043.2(BRIP1):c.2737del:p.Ser913fs	coding	Pathogenic
17	61686008	C	CA	C61686010A	BRIP1	NM_032043.2(BRIP1):c.2732dup:p.Thr912fs	coding	Pathogenic
17	61686050	CT	C	T61686053A	BRIP1	NM_032043.3(BRIP1):c.2690del:p.Lys897fs	coding	Pathogenic
17	61686053	TATGG	T	G61686056A	BRIP1	NM_032043.2(BRIP1):c.2684_2687del:p.Val894_Ser895insTer	coding	Pathogenic
17	61686100	AG	A	G61686102A	BRIP1	NM_032043.2(BRIP1):c.2640del:p.Leu881fs	coding	Pathogenic
17	61686145	GC	G	C61686147G	BRIP1	NM_032043.2(BRIP1):c.2595del:p.Gln866fs	coding	Pathogenic
17	61686151	C	CCGTA	C61686153G	BRIP1	NM_032043.2(BRIP1):c.2589_2590insTACG:p.Val864fs	coding	Pathogenic
17	61686159	G	GA	G61686163A	BRIP1	NM_032043.3(BRIP1):c.2581dup:p.Ser861fs	coding	Pathogenic
17	61693466	CATCCACTAGAATAA	C	A61693467G	BRIP1	NM_032043.3(BRIP1):c.2525_2538del:p.Leu842fs	coding	Pathogenic
17	61693467	ATCCACTAGAATAAGA	GG	A61693467G	BRIP1	NM_032043.3(BRIP1):c.2523_2538delinsCC:p.Leu842fs	coding	Pathogenic
17	61693479	AAG	A	A61693482C	BRIP1	NM_032043.3(BRIP1):c.2524_2525del:p.Leu842fs	coding	Pathogenic
17	61693485	TCC	T	C61693488A	BRIP1	NM_032043.2(BRIP1):c.2518_2519del:p.Gly840fs	coding	Pathogenic
17	61693485	T	TC	A61693490C	BRIP1	NM_032043.3(BRIP1):c.2519dup:p.Ala841fs	coding	Pathogenic
17	61693496	TTC	T	C61693498G	BRIP1	NM_032043.3(BRIP1):c.2507_2508del:p.Arg836fs	coding	Pathogenic
17	61693500	GT	G	T61693501G	BRIP1	NM_032043.3(BRIP1):c.2504del:p.His835fs	coding	Pathogenic
17	61715948	T	TA	C61715950A	BRIP1	NM_032043.2(BRIP1):c.2492+2dup	noncoding	Pathogenic/Likely_pathogenic
17	61715951	CT	C	T61715952A	BRIP1	NM_032043.2(BRIP1):c.2491del:p.Arg831fs	coding	Pathogenic
17	61715978	T	TA	T61715980A	BRIP1	NM_032043.2(BRIP1):c.2464dup:p.Tyr822fs	coding	Pathogenic
17	61716043	GTA	CAAAT	G61716043C	BRIP1	NM_032043.2(BRIP1):c.2398_2400delinsATTTG:p.Tyr800fs	coding	Pathogenic
17	61743050	G	GT	A61743053T	BRIP1	NM_032043.2(BRIP1):c.2341dup:p.Thr781fs	coding	Pathogenic/Likely_pathogenic
17	61743110	CA	C	A61743113C	BRIP1	NM_032043.2(BRIP1):c.2281del:p.Cys761fs	coding	Pathogenic
17	61743118	T	TA	C61743120A	BRIP1	NM_032043.2(BRIP1):c.2273dup:p.Ala759fs	coding	Pathogenic/Likely_pathogenic
17	61744432	CTT	C	T61744434C	BRIP1	NM_032043.2(BRIP1):c.2255_2256del:p.Lys752fs	coding	Pathogenic
17	61744434	TTCTC	T	T61744437C	BRIP1	NM_032043.2(BRIP1):c.2251_2254delGAGA	coding	Pathogenic
17	61744434	TTC	T	T61744439C	BRIP1	NM_032043.2(BRIP1):c.2253_2254delGA	coding	Pathogenic
17	61744448	TTTGA	T	A61744452C	BRIP1	NM_032043.2(BRIP1):c.2237_2240del:p.Ile746fs	coding	Pathogenic
17	61744463	G	GTAC	A61744467T	BRIP1	NM_032043.2(BRIP1):c.2223_2225dup:p.Tyr742Ter	coding	Pathogenic
17	61744467	A	AC	T61744470C	BRIP1	NM_032043.2(BRIP1):c.2221dup:p.Val741fs	coding	Pathogenic
17	61744470	TG	T	G61744471C	BRIP1	NM_032043.2(BRIP1):c.2218del:p.Gln740fs	coding	Pathogenic
17	61744483	C	CA	T61744488A	BRIP1	NM_032043.2(BRIP1):c.2205dup:p.Asp736Ter	coding	Pathogenic/Likely_pathogenic
17	61744555	CA	C	A61744556G	BRIP1	NM_032043.2(BRIP1):c.2133del:p.Gly712fs	coding	Pathogenic
17	61744570	GTTCTT	G	C61744573A	BRIP1	NM_032043.2(BRIP1):c.2114_2118del:p.Lys705fs	coding	Pathogenic/Likely_pathogenic
17	61744571	TTC	T	C61744573T	BRIP1	NM_032043.3(BRIP1):c.2116_2117del:p.Glu706fs	coding	Pathogenic
17	61744581	T	GGA	T61744581G	BRIP1	NM_032043.2(BRIP1):c.2108delinsTCC:p.Lys703fs	coding	Pathogenic
17	61776412	G	GC	A61776414C	BRIP1	NM_032043.2(BRIP1):c.2085dup:p.Pro696fs	coding	Pathogenic
17	61776418	AAC	A	C61776422A	BRIP1	NM_032043.3(BRIP1):c.2076_2077GT[1]:p.Cys693fs	coding	Pathogenic/Likely_pathogenic
17	61776455	TAACAA	T	C61776458G	BRIP1	NM_032043.2(BRIP1):c.2038_2042del:p.Leu680fs	coding	Pathogenic
17	61776458	CAA	C	A61776461G	BRIP1	NM_032043.2(BRIP1):c.2038_2039del:p.Leu680fs	coding	Pathogenic
17	61776458	C	CAA	G61776463A	BRIP1	NM_032043.2(BRIP1):c.2038_2039dup:p.Leu680fs	coding	Pathogenic/Likely_pathogenic
17	61776467	TC	T	C61776470A	BRIP1	NM_032043.2(BRIP1):c.2030del:p.Gly677fs	coding	Pathogenic
17	61776471	A	AC	T61776473C	BRIP1	NM_032043.3(BRIP1):c.2026dup:p.Val676fs	coding	Pathogenic
17	61776483	A	GG	A61776483G	BRIP1	NM_032043.2(BRIP1):c.2015delinsCC:p.Phe672fs	coding	Pathogenic
17	61776487	C	CA	T61776491A	BRIP1	NM_032043.2(BRIP1):c.2010dup:p.Glu671Ter	coding	Pathogenic
17	61776510	G	GT	A61776512T	BRIP1	NM_032043.3(BRIP1):c.1987dup:p.Thr663fs	coding	Pathogenic
17	61776527	AC	A	C61776530T	BRIP1	NM_032043.2(BRIP1):c.1970del:p.Gly657fs	coding	Pathogenic
17	61776530	C	CT	G61776533T	BRIP1	NM_032043.3(BRIP1):c.1967dup:p.Arg658fs	coding	Pathogenic
17	61776540	GACCCAATGGT	G	C61776544A	BRIP1	NM_032043.3(BRIP1):c.1948_1957del:p.Thr650fs	coding	Pathogenic
17	61776561	AC	A	C61776563T	BRIP1	NM_032043.2(BRIP1):c.1936delG	coding	Pathogenic
17	61780276	GAT	G	A61780279G	BRIP1	NM_032043.2(BRIP1):c.1918_1919delAT	coding	Pathogenic
17	61780305	AT	A	T61780306G	BRIP1	NM_032043.2(BRIP1):c.1890del:p.Phe631fs	coding	Pathogenic
17	61780306	TG	T	G61780307T	BRIP1	NM_032043.2(BRIP1):c.1889del:p.Thr630fs	coding	Pathogenic
17	61780307	G	GT	A61780309T	BRIP1	NM_032043.2(BRIP1):c.1888dup:p.Thr630fs	coding	Pathogenic
17	61780342	T	TC	G61780343C	BRIP1	NM_032043.2(BRIP1):c.1853_1854insG:p.Pro619fs	coding	Pathogenic/Likely_pathogenic
17	61780364	AC	A	C61780365A	BRIP1	NM_032043.2(BRIP1):c.1831del:p.Val611fs	coding	Pathogenic
17	61780842	CA	C	A61780843G	BRIP1	NM_032043.2(BRIP1):c.1791del:p.Val598fs	coding	Pathogenic
17	61780859	CA	C	A61780863G	BRIP1	NM_032043.3(BRIP1):c.1774del:p.Trp592fs	coding	Pathogenic
17	61780926	AC	A	C61780929A	BRIP1	NM_032043.3(BRIP1):c.1707del:p.Leu570fs	coding	Pathogenic
17	61780930	ATT	A	T61780934G	BRIP1	NM_032043.2(BRIP1):c.1702_1703del:p.Asn568fs	coding	Pathogenic/Likely_pathogenic
17	61780936	G	GGTTGTTGAAATATCAATTTGATATA	T61780937G	BRIP1	NM_032043.2(BRIP1):c.1697_1698insTATATCAAATTGATATTTCAACAAC:p.Lys567_Asn568insIleSerAsnTer	coding	Pathogenic
17	61780936	GT	G	T61780937C	BRIP1	NM_032043.3(BRIP1):c.1697del:p.Asp566fs	coding	Pathogenic
17	61780949	ATC	A	C61780951G	BRIP1	NM_032043.3(BRIP1):c.1683_1684del:p.Gln561fs	coding	Pathogenic
17	61780964	G	GAGTA	C61780972A	BRIP1	NM_032043.3(BRIP1):c.1666_1669dup:p.Ser557fs	coding	Pathogenic
17	61780970	GTC	G	C61780972G	BRIP1	NM_032043.3(BRIP1):c.1662_1663del:p.Gln554fs	coding	Pathogenic
17	61780972	CT	C	T61780973G	BRIP1	NM_032043.2(BRIP1):c.1661del:p.Gln554fs	coding	Pathogenic
17	61780984	A	AATTTT	A61780992T	BRIP1	NM_032043.2(BRIP1):c.1645_1649dup:p.Ala551fs	coding	Pathogenic
17	61784275	AT	A	T61784279G	BRIP1	NM_032043.3(BRIP1):c.1622del:p.Asn541fs	coding	Pathogenic
17	61784283	TA	T	A61784288G	BRIP1	NM_032043.3(BRIP1):c.1614del:p.Phe538fs	coding	Pathogenic
17	61784303	A	AT	A61784305T	BRIP1	NM_032043.2(BRIP1):c.1594dup:p.Met532fs	coding	Pathogenic
17	61784354	TC	T	C61784355T	BRIP1	NM_032043.2(BRIP1):c.1543del:p.Glu515fs	coding	Pathogenic
17	61784360	GC	G	C61784362T	BRIP1	NM_032043.2(BRIP1):c.1537del:p.Ala513fs	coding	Pathogenic
17	61784387	A	AT	C61784394T	BRIP1	NM_032043.2(BRIP1):c.1510dup:p.Ile504fs	coding	Pathogenic/Likely_pathogenic
17	61784387	AT	A	T61784393C	BRIP1	NM_032043.2(BRIP1):c.1510del:p.Ile504fs	coding	Pathogenic
17	61784414	G	GA	T61784420A	BRIP1	NM_032043.2(BRIP1):c.1483dup:p.Ser495fs	coding	Pathogenic
17	61793604	ATGGG	A	T61793605A	BRIP1	NM_032043.3(BRIP1):c.1462_1465del:p.Pro488fs	coding	Pathogenic
17	61793608	GA	G	A61793612G	BRIP1	NM_032043.2(BRIP1):c.1461del:p.Ile489fs	coding	Pathogenic
17	61793626	T	TAC	C61793629A	BRIP1	NM_032043.3(BRIP1):c.1442_1443dup:p.Ile482fs	coding	Pathogenic
17	61793640	AAAGTT	A	T61793644A	BRIP1	NM_032043.2(BRIP1):c.1425_1429del:p.Leu475fs	coding	Pathogenic/Likely_pathogenic
17	61799137	GATCT	G	A61799138T	BRIP1	NM_032043.3(BRIP1):c.1299_1302del:p.Lys433fs	coding	Pathogenic
17	61799188	CAAACCGAAGCTGAACTTCTGTT	C	A61799190C	BRIP1	NM_032043.2(BRIP1):c.1230_1251del:p.Thr411fs	coding	Pathogenic
17	61799195	A	AAGCTG	A61799202G	BRIP1	NM_032043.3(BRIP1):c.1240_1244dup:p.Arg416fs	coding	Pathogenic
17	61799203	CT	C	T61799205C	BRIP1	NM_032043.2(BRIP1):c.1236del:p.Val413fs	coding	Pathogenic
17	61799204	TTC	T	C61799206G	BRIP1	NM_032043.2(BRIP1):c.1234_1235del:p.Glu412fs	coding	Pathogenic/Likely_pathogenic
17	61799217	T	TA	C61799220A	BRIP1	NM_032043.3(BRIP1):c.1222dup:p.Tyr408fs	coding	Pathogenic
17	61799235	G	GCACA	G61799240C	BRIP1	NM_032043.2(BRIP1):c.1204_1205insTGTG	coding	Pathogenic
17	61799242	CCT	C	T61799244G	BRIP1	NM_032043.3(BRIP1):c.1196_1197del:p.Glu399fs	coding	Pathogenic
17	61799251	T	TA	T61799253A	BRIP1	NM_032043.3(BRIP1):c.1188dup:p.Asn397Ter	coding	Pathogenic
17	61799278	GTTCTTTC	TAT	G61799278T	BRIP1	NM_032043.2(BRIP1):c.1155_1162delinsATA:p.Lys386_Gln388delinsTer	coding	Pathogenic
17	61801254	CT	C	T61801257C	BRIP1	NM_032043.3(BRIP1):c.1138del:p.Ser380fs	coding	Pathogenic
17	61801263	AT	A	T61801266G	BRIP1	NM_032043.3(BRIP1):c.1129del:p.Gln376_Ile377insTer	coding	Pathogenic
17	61801265	TTG	T	T61801268C	BRIP1	NM_032043.3(BRIP1):c.1124_1125CA[1]:p.Gln376fs	coding	Pathogenic/Likely_pathogenic
17	61801278	AG	T	A61801278T	BRIP1	NM_032043.3(BRIP1):c.1114_1115delinsA:p.Leu372fs	coding	Pathogenic
17	61801282	A	AGT	T61801285G	BRIP1	NM_032043.2(BRIP1):c.1109_1110dup:p.Tyr371fs	coding	Pathogenic
17	61801290	GGACAA	G	G61801291A	BRIP1	NM_032043.2(BRIP1):c.1098_1102del:p.Cys367fs	coding	Pathogenic
17	61801305	TCAGCATCTTGTATTAG	T	C61801306T	BRIP1	NM_032043.2(BRIP1):c.1072_1087del:p.Leu358fs	coding	Pathogenic
17	61801310	AT	A	T61801311C	BRIP1	NM_032043.2(BRIP1):c.1082del:p.Asp361fs	coding	Pathogenic
17	61801337	A	ATATG	G61801342T	BRIP1	NM_032043.2(BRIP1):c.1052_1055dup:p.Tyr353fs	coding	Pathogenic
17	61801374	A	AAG	G61801375A	BRIP1	NM_032043.2(BRIP1):c.1018_1019insCT:p.Leu340fs	coding	Pathogenic
17	61801408	G	GT	G61801409T	BRIP1	NM_032043.2(BRIP1):c.984_985insA:p.Gln329fs	coding	Pathogenic
17	61801434	CT	C	T61801435A	BRIP1	NM_032043.2(BRIP1):c.958del:p.Ser320fs	coding	Pathogenic
17	61801460	AT	A	T61801461A	BRIP1	NM_032043.2(BRIP1):c.932del:p.Tyr311fs	coding	Pathogenic
17	61801468	AT	A	T61801472C	BRIP1	NM_032043.3(BRIP1):c.924del:p.Lys308fs	coding	Pathogenic
17	61808466	CG	C	G61808467T	BRIP1	NM_032043.2(BRIP1):c.918del:p.Asn306fs	coding	Pathogenic
17	61808467	G	GT	C61808473T	BRIP1	NM_032043.2(BRIP1):c.917dup:p.Asn306fs	coding	Pathogenic/Likely_pathogenic
17	61808481	GC	G	C61808482A	BRIP1	NM_032043.2(BRIP1):c.903del:p.Leu301fs	coding	Pathogenic
17	61808494	C	CA	T61808495A	BRIP1	NM_032043.2(BRIP1):c.890_891insT:p.Lys297fs	coding	Pathogenic
17	61808494	CT	C	T61808496C	BRIP1	NM_032043.2(BRIP1):c.890del:p.Lys297fs	coding	Pathogenic/Likely_pathogenic
17	61808508	TG	T	G61808509A	BRIP1	NM_032043.2(BRIP1):c.876del:p.Phe292fs	coding	Pathogenic
17	61808518	GA	G	A61808519C	BRIP1	NM_032043.2(BRIP1):c.866del:p.Val289fs	coding	Pathogenic
17	61808544	GA	G	A61808545T	BRIP1	NM_032043.2(BRIP1):c.840del:p.His281fs	coding	Pathogenic/Likely_pathogenic
17	61808577	C	CT	G61808579T	BRIP1	NM_032043.2(BRIP1):c.807dup:p.Gly270fs	coding	Pathogenic
17	61808607	T	TA	T61808610A	BRIP1	NM_032043.2(BRIP1):c.777dup:p.Thr260fs	coding	Pathogenic
17	61808624	T	TTG	C61808633T	BRIP1	NM_032043.3(BRIP1):c.759_760dup:p.Lys254fs	coding	Pathogenic
17	61808637	TC	T	C61808640A	BRIP1	NM_032043.2(BRIP1):c.747del:p.Thr250fs	coding	Pathogenic
17	61808644	A	ATATATTT	G61808653A	BRIP1	NM_032043.3(BRIP1):c.734_740dup:p.Tyr247Ter	coding	Pathogenic
17	61808676	G	GA	T61808678A	BRIP1	NM_032043.2(BRIP1):c.708dup:p.His237fs	coding	Pathogenic
17	61808738	CT	C	T61808739A	BRIP1	NM_032043.3(BRIP1):c.646del:p.Arg216fs	coding	Pathogenic/Likely_pathogenic
17	61808739	TAG	T	G61808741A	BRIP1	NM_032043.3(BRIP1):c.644_645del:p.Cys214_Ser215insTer	coding	Pathogenic
17	61808747	TGGCCAGGG	T	C61808751T	BRIP1	NC_000017.11:g.61808751_61808758del	coding	Pathogenic
17	61808751	CA	C	A61808752G	BRIP1	NM_032043.2(BRIP1):c.633del:p.Gly212fs	coding	Pathogenic
17	61808752	A	AG	C61808758G	BRIP1	NM_032043.2(BRIP1):c.632dup:p.Gly212fs	coding	Pathogenic
17	61808752	AG	A	G61808757C	BRIP1	NM_032043.2(BRIP1):c.632del:p.Pro211fs	coding	Pathogenic
17	61847111	GAA	G	A61847114G	BRIP1	NM_032043.3(BRIP1):c.615_616del:p.Ser206fs	coding	Pathogenic
17	61847119	GT	G	T61847122A	BRIP1	NM_032043.3(BRIP1):c.608del:p.Asn203fs	coding	Pathogenic
17	61847123	AT	A	T61847124C	BRIP1	NM_032043.3(BRIP1):c.604del:p.Lys201_Ile202insTer	coding	Pathogenic
17	61847129	TC	T	C61847131A	BRIP1	NM_032043.3(BRIP1):c.598del:p.Glu200fs	coding	Pathogenic
17	61847142	TGA	T	A61847144T	BRIP1	NM_032043.2(BRIP1):c.584_585del:p.Leu195fs	coding	Pathogenic
17	61847151	CA	C	A61847152G	BRIP1	NM_032043.2(BRIP1):c.576del:p.Thr192_Val193insTer	coding	Pathogenic
17	61847151	C	CA	G61847153A	BRIP1	NM_032043.3(BRIP1):c.576dup:p.Val193fs	coding	Pathogenic
17	61847179	CA	C	A61847182T	BRIP1	NM_032043.2(BRIP1):c.548del:p.Leu183fs	coding	Pathogenic
17	61847215	T	TC	T61847217C	BRIP1	NM_032043.3(BRIP1):c.512dup:p.Arg173fs	coding	Pathogenic
17	61849154	ATTCTT	A	T61849160C	BRIP1	NM_032043.2(BRIP1):c.477_481delAAGAA	coding	Pathogenic/Likely_pathogenic
17	61849157	CT	C	T61849161C	BRIP1	NM_032043.2(BRIP1):c.478del:p.Arg160fs	coding	Pathogenic
17	61849161	TC	T	C61849162T	BRIP1	NM_032043.3(BRIP1):c.474del:p.Arg160fs	coding	Pathogenic
17	61849173	GAA	G	A61849176T	BRIP1	NM_032043.3(BRIP1):c.461_462del:p.Phe154fs	coding	Pathogenic
17	61849173	G	GA	T61849178A	BRIP1	NM_032043.2(BRIP1):c.462dup:p.Gln155fs	coding	Pathogenic
17	61849193	CTG	C	G61849195A	BRIP1	NM_032043.3(BRIP1):c.441_442del:p.Tyr147_Arg148delinsTer	coding	Pathogenic
17	61849195	G	GT	A61849197T	BRIP1	NM_032043.2(BRIP1):c.440dup:p.Tyr147Ter	coding	Pathogenic/Likely_pathogenic
17	61849195	GT	G	T61849196A	BRIP1	NM_032043.2(BRIP1):c.440del:p.Tyr147fs	coding	Pathogenic
17	61849196	TAT	AG	T61849196A	BRIP1	NM_032043.2(BRIP1):c.438_440delinsCT:p.Tyr147fs	coding	Pathogenic
17	61849207	CTGTTTCTTA	TTT	C61849207T	BRIP1	NM_032043.2(BRIP1):c.420_429delinsAAA:p.Lys142fs	coding	Pathogenic
17	61849235	AGAGTG	A	A61849237T	BRIP1	NM_032043.2(BRIP1):c.396_400del:p.Thr133fs	coding	Pathogenic
17	61849241	G	GT	C61849248T	BRIP1	NM_032043.2(BRIP1):c.394dup:p.Thr132fs	coding	Pathogenic
17	61849249	AG	A	G61849253A	BRIP1	NM_032043.2(BRIP1):c.386del:p.Pro129fs	coding	Pathogenic
17	61849252	GGA	G	A61849254T	BRIP1	NM_032043.3(BRIP1):c.382_383del:p.Ser128fs	coding	Pathogenic
17	61849272	TA	T	A61849280C	BRIP1	NM_032043.3(BRIP1):c.380-17del	noncoding	Benign/Likely_benign
17	61849272	T	TA	C61849281A	BRIP1	NM_032043.2(BRIP1):c.380-24dup	noncoding	Benign/Likely_benign
17	61857075	G	GTGCC	A61857080T	BRIP1	NM_032043.2(BRIP1):c.358_361dup:p.Thr121fs	coding	Pathogenic
17	61857099	GTGCTTGGATAGTTGAAA	G	C61857102A	BRIP1	NM_032043.3(BRIP1):c.321_337del:p.Phe108fs	coding	Pathogenic
17	61857128	TC	T	C61857130T	BRIP1	NM_032043.2(BRIP1):c.308del:p.Gly103fs	coding	Pathogenic
17	61857138	AT	A	T61857139G	BRIP1	NM_032043.2(BRIP1):c.298del:p.Asp99_Met100insTer	coding	Pathogenic
17	61857143	ATTGT	A	T61857148A	BRIP1	NM_032043.3(BRIP1):c.286_289ACAA[1]:p.Asn97fs	coding	Pathogenic/Likely_pathogenic
17	61857193	CT	C	T61857195C	BRIP1	NM_032043.2(BRIP1):c.243del:p.Val82fs	coding	Pathogenic/Likely_pathogenic
17	61857195	TC	T	C61857196A	BRIP1	NM_032043.3(BRIP1):c.241del:p.Glu81fs	coding	Pathogenic/Likely_pathogenic
17	61857226	GT	G	T61857229C	BRIP1	NM_032043.2(BRIP1):c.210del:p.Lys70fs	coding	Pathogenic
17	61859794	AC	A	C61859796A	BRIP1	NM_032043.2(BRIP1):c.205+1del	noncoding	Pathogenic/Likely_pathogenic
17	61859799	T	TAA	G61859802A	BRIP1	NM_032043.2(BRIP1):c.200_201dup:p.Ser68fs	coding	Pathogenic
17	61859805	A	GAG	A61859805G	BRIP1	NM_032043.2(BRIP1):c.196delinsCTC:p.Ser66fs	coding	Pathogenic
17	61859813	CATGCTAAAGCAGAACAAAGTAAGGCTAAGCTTTTTCCACTTCCTGTGGGACTCTCCAACAAACAATGTTGCTTGCTGTTTAATCCTCTGAGAATCTATGAACACAGAAACCAATGAAAATAATAAACATATTAACTTTATAAAGGTCTCTCTCCATCTGAAGTTTAAATAGAACAGCAAGGAAAAGTGAGATTGCACTCCAGGGAACACAACAATAGCAGAAGGAACTCATATTTAGTTAAATCCAAACTGTATTCCTTTACACCTCTCCCTAAGATTATCTTACTAAAATATCAAGCACAAGAGAAGAAATGAAAAGAGGAATCTGTGCCAGAATTATGCAAGCATCAATGATTTCTGTAAAACCAGAATACATTACTACCTATCAATATATTTGATGAAAACTTAATGAAGGATACTGCTAGTGAGAGTACAAATTGTTACAACTACTTGGTAGAGAAATAAACAATTTCTTATAAAGTGAAGATGCCCAGCTCCAGCAAGTCCAGTTCTATGTGTACACCCAAAACCTTTCCCACATGAACACAAGGAAACATGCATAAGAAAGTTCACAGCAGCAGCCACGCTTGTAATCCCATCACTTTGGGAGGCCAAGGCAGGTGGATCATTTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACACGGTGAAAACCCGTCTCTACTAAAAATCCAAAAATTAGCTGGGCGTGGTGGCGCATCCCTGTAATCCCAGCTACTGGGGAGGCTGAGGCAGGAGAATAGCTTCAGCCTGGGAGGCAGGGGTTGCAGTGAGCCAAGATCGCGCCACTGCACTCCAATCTGGGCGACAGAGTGAGACGCTGTCTCAAAAACAAAAAGAAAAAAGGAAGTTCACAGCAGCATTGTTTGTAACTGCAAAAGAATGTAAACAACCTAAATGTCTACCAATAAGAAAATGGACAGATAAATTCTGGTATATTCATCCAATGGAATTTATACAACAATTAAAATGGATTAAGAATCAACAGGGCTATACATTAAAAATAATGCTAAGTTAAAAAACTCAAGTTCTGCATAAAAAGTAAGGTACCGTATCACATCAATGCACAGTTTCAAATATGTAAAATAATATTCTATATTGTTTATGGATACATATATATGTAATAAAAGTATAAAAACATGGCTAGGAAAGGAAAAGAACAAATTCAGGATACTAATAATCTTGTTACCAGTAAATAAGATATGAAGTACATATGGCAAAATAGCTGTAACAAAACTGGAAAGCTGGTTTACTCAAATTTGTATATTAATTTTCTACATGATCCAAACAAAACAATGGTGAGAAAAATAGTATTCTGTGTAAAAGATAGTAAATACTCTGTTTTTACTTAAAAGTATAGCAGTTTTTCATTAAAAGTATAGAAATTCCAAATGAGCTGAGAACATTTTTCAGAATGTTCTTCTTTGCCTTAACCACAGATATATACAGTTTAGCTGCAATCAGTAGTTTCCCAGAGGTTAGATATTCTTCCAAGTGAACCCAGAAAATATTCTCCATTTACTGAGAATATGAATGCAGTCAAATACTCAATGTACTTTATGGGTCATAAGTATCTATATCTTAATAAAAACTTAACTGCTGAAAAATACTTACAGAATTCATCATAGCAAGCTGTGACGGGTAAGCTTTATAAGGAAAGTAAATCTTCACCCCACCAATTGTATATTCAGACCACATTGAAGACATAGTGCTTTCCTGTTTATTTCAGATTCCTAACTACAACAGAAATGAAAATGTCAAATATTGAGACACGCCTTACAAAGAAAACCAGAGAACCAAAACTAAGGGAGAAATCTGGAAACAGAAACTGGAATTAATAAAAGTATAAACAAAACAAATGGAAACAAAATAATTTCCTAGTCTTATAAATCACAGCGGTCAAGAGCATGTCTTAGAGTCTAACAAATCTAGATTTGTATCCTTCACTCTGCCAGGTATTAGTTGTGTGACTTCGGGAAAGTTAGTTACCTTCTCTAAGCCACAGTGACTGCATGTACCCCATAGGATTGTGGTAATGATTAAGTGAAATAATGTGCAAATATGATAAAGTACATACCAGATTAAACATGAGCTCTTGTAACAGTTAGATCAGATGTAATCAACCTACAGAAACAAATAAGTTCCTGAGGCCTCTCTCTCTACAACTCCGTAGCATCACTCTTTCTCCAGTTCTTCCCCTTTGTGTTACCCCTTTCTGCAGTCCTCCAGTTAGAAGAAAAAAGCTGTTGACCAGAAGTCAGGAAGCATAGGTTCTATACCAGGTTTTGGTATACTGCCTGGTATGTTATCTTTGACTCAGGTATGTTATCTTTGACATATCTTTTTACTTCTCTAGTCTAAGATCCTTACCTGTGATAACCCCTAATTTAATTTAAAGGCTGTTATAAGAAAGAGAATGCCTTGGCACATAGTAGGCACTCAAAAATGTTATTTGAAGATCAGTAGAGTATTATAGAAACAGGATGGGCTTTGGAGTAAGGCAATCCTAAGTTTGAATTCCACTGTGTGAATCACTTAACTTCTCAGAGCTTGTTTCTCCATATATGGAATTGAAATACTACTACTTACCTGACAGGGTTTTTATGAAAATTAGCCAGGGCAGAATGTACCTAACCCAGGATCTGATACAGATGAGGATCACTTTAATCCTCACCTCTTCTAAACCACTTTTCTTAACCTAGGATCCACGGATGTAATTCAGAGACAATGACCTCTTGAAATTGCAAGCATAAGTTTCTGTACATGATTGCATTTTTCTGAAGAAAAAGTCCATAGATTTCTCTTCCCGTAAATATATCTCAAGGAAATCAAAATAGCGGGGGAAATTACATGCACTGTTATTAAATAAGGAATTATTTGCAGTCGTGGGAAAAAATTGTAAATTCAACCTGGGGACGAAGAGATGGTTAAAATAGCAATTCAATAGATTATGA	C	T61859815G	BRIP1	NM_032043.2(BRIP1):c.-31+498_187del	coding	Pathogenic
17	61859822	G	GCAGAACAAAGTAAGGCTAAGCTTTTTCCACTTCCTGTGGGACTCTCCAACAAACAATGTTGCTTGCTGTTTAATCCTCTGAGAATCTATGAA	C61859917G	BRIP1	NM_032043.2(BRIP1):c.94-7_178dup	coding	Pathogenic
17	61859829	AAAGT	A	T61859833G	BRIP1	NM_032043.3(BRIP1):c.168_171del:p.Leu56fs	coding	Pathogenic
17	61859859	TG	T	G61859862A	BRIP1	NM_032043.2(BRIP1):c.141del:p.Thr48fs	coding	Pathogenic/Likely_pathogenic
17	61859869	CAACA	C	A61859875T	BRIP1	NM_032043.3(BRIP1):c.124_127TGTT[1]:p.Leu43fs	coding	Pathogenic/Likely_pathogenic
17	61859888	C	CT	G61859890T	BRIP1	NM_032043.3(BRIP1):c.112dup:p.Ser38fs	coding	Pathogenic
17	61859904	GA	G	A61859906T	BRIP1	NM_032043.3(BRIP1):c.96del:p.Leu33fs	coding	Pathogenic
17	61861461	C	CA	G61861464A	BRIP1	NM_032043.2(BRIP1):c.78dup:p.Ala27fs	coding	Pathogenic/Likely_pathogenic
17	61861471	C	CG	T61861475G	BRIP1	NM_032043.2(BRIP1):c.68dup:p.Ser24fs	coding	Pathogenic
17	61861484	T	TA	G61861487A	BRIP1	NM_032043.2(BRIP1):c.55dup:p.Tyr19fs	coding	Pathogenic
17	61861493	TA	T	A61861496T	BRIP1	NM_032043.2(BRIP1):c.46del:p.Tyr16fs	coding	Pathogenic
17	61861509	CA	C	A61861511T	BRIP1	NM_032043.2(BRIP1):c.30del:p.Ile10fs	coding	Pathogenic
17	61861528	CATTGA	C	T61861530G	BRIP1	NM_032043.2(BRIP1):c.7_11del:p.Ser3fs	coding	Pathogenic
17	61965160	T	TACTGC	C61965166A	MED13	NM_005121.3(MED13):c.4685_4689dup:p.Met1564fs	coding	Pathogenic
17	61972804	CT	C	T61972811C	MED13	NM_005121.3(MED13):c.3889del:p.Arg1297fs	coding	Pathogenic
17	61982994	AGAAG	A	G61982999A	MED13	NM_005121.3(MED13):c.3001_3004CTTC[1]:p.Pro1002fs	coding	Pathogenic
17	62033874	AGATAG	A	G62033880A	MED13	NM_005121.3(MED13):c.722_726del:p.Pro241fs	coding	Pathogenic
17	62063242	AG	A	G62063246C	MED13	NM_005121.3(MED13):c.125del:p.Pro42fs	coding	Pathogenic
17	62553745	AT	A	T62553748A	TLK2	NM_006852.6(TLK2):c.713del:p.Leu238fs	coding	Pathogenic
17	62565024	TAG	T	G62565028T	TLK2	NM_006852.6(TLK2):c.859_860del:p.Arg286_Asp287insTer	coding	Pathogenic
17	62565115	TA	T	A62565116T	TLK2	NM_006852.4(TLK2):c.947del:p.Tyr316fs	coding	Pathogenic
17	62573263	GA	G	A62573267T	TLK2	NM_006852.6(TLK2):c.1021del:p.Met341fs	coding	Pathogenic
17	62600680	GA	G	A62600683T	TLK2	NM_006852.6(TLK2):c.1583del:p.Asn528fs	coding	Pathogenic
17	62602066	CA	C	A62602067G	TLK2	NM_006852.4(TLK2):c.1746del:p.Ala583fs	coding	Pathogenic
17	63420385	TC	T	C63420387G	TANC2	NM_025185.4(TANC2):c.4405del:p.Arg1469fs	coding	Pathogenic/Likely_pathogenic
17	63420430	AG	A	G63420431T	TANC2	NM_025185.4(TANC2):c.4449del:p.Gln1483fs	coding	Pathogenic/Likely_pathogenic
17	63477105	CCTCGGGCCGCCGGGGGCCGG	C	C63477106G	ACE	NM_000789.4(ACE):c.12_31del:p.Ser5fs	coding	Pathogenic/Likely_pathogenic
17	63477126	GGCTGCT	G	T63477132C	ACE	NM_000789.4(ACE):c.35_37TGC[1]:p.Leu13_Leu14del	coding	Pathogenic
17	63482665	CTGGA	C	T63482666C	ACE	NM_000789.4(ACE):c.1319_1322del:p.Leu440fs	coding	Pathogenic
17	63498093	A	ACT	G63498098C	ACE	NM_000789.4(ACE):c.*728_*729CT[3]	noncoding	Benign
17	63706650	A	AT	C63706652T	STRADA	NM_001003787.4(STRADA):c.842dup:p.Asp281fs	coding	Pathogenic
17	63713498	TCA	T	C63713501G	STRADA	NM_001003787.4(STRADA):c.252_253TG[1]:p.Val85fs	coding	Pathogenic
17	63837200	G	GAGGTAGAACCTTATCTGCCATCTTC	C63837226A	SMARCD2	NM_001098426.2(SMARCD2):c.414_438dup:p.Gln147delinsGluAspGlyArgTer	coding	Pathogenic
17	63939080	G	GCA	G63939094A	SCN4A	NM_000334.4(SCN4A):c.*1689_*1690dupTG	noncoding	Benign
17	63939367	C	CACACATATAT	A63939391C	SCN4A	NM_000334.4(SCN4A):c.*1394_*1403dupATATATGTGT	noncoding	Benign
17	63942934	T	TGG	A63942936G	SCN4A	NM_000334.4(SCN4A):c.4179_4180insCC:p.Ile1394fs	coding	Pathogenic
17	63943341	T	TCCCTCCTCCCCGGGGACC	T63943346C	SCN4A	NM_000334.4(SCN4A):c.4018-246_4018-245insAGGGGGTCCCCGGGGAGG	noncoding	Benign
17	63949462	CG	C	G63949468C	SCN4A	NM_000334.4(SCN4A):c.2919del:p.Glu974fs	coding	Pathogenic
17	63951662	T	TC	G63951668C	SCN4A	NM_000334.4(SCN4A):c.2614dup:p.Glu872fs	coding	Pathogenic
17	63966170	AG	A	G63966172T	SCN4A	NM_000334.4(SCN4A):c.1173del:p.Phe392fs	coding	Pathogenic
17	63971269	AG	A	G63971275T	SCN4A	NM_000334.4(SCN4A):c.612-17del	noncoding	Benign
17	63972626	C	CG	T63972633G	SCN4A	NM_000334.4(SCN4A):c.215dup:p.Pro73fs	coding	Pathogenic
17	64075251	T	TAA	G64075267A	ERN1	NM_001433.5(ERN1):c.283-19_283-18dup	noncoding	Benign
17	64477856	CAA	C	A64477860G	POLG2	NM_007215.4(POLG2):c.1423_1424del:p.Leu475fs	coding	Pathogenic
17	64482911	T	TA	C64482914A	POLG2	NM_007215.4(POLG2):c.1191+6dup	noncoding	Benign
17	65534007	GA	G	A65534012G	AXIN2	NM_004655.4(AXIN2):c.2309del:p.Phe770fs	coding	Pathogenic/Likely_pathogenic
17	65534010	AAAGT	A	A65534015G	AXIN2	NM_004655.4(AXIN2):c.2299_2302ACTT[1]:p.Tyr768fs	coding	Pathogenic
17	65536436	ACGGGGGGTGGTG	A	G65536443T	AXIN2	NM_004655.4(AXIN2):c.2013_2024del:p.Thr672_Arg675del	coding	Benign
17	65536466	GC	G	C65536473A	AXIN2	NM_004655.4(AXIN2):c.1994del:p.Gly665fs	coding	Pathogenic
17	65536466	G	GC	A65536474C	AXIN2	NM_004655.4(AXIN2):c.1994dup:p.Asn666fs	coding	Pathogenic/Likely_pathogenic
17	65536896	TCA	T	A65536898T	AXIN2	NM_004655.4(AXIN2):c.1878_1879del:p.Ser626fs	coding	Pathogenic
17	65536953	AG	A	G65536954C	AXIN2	NM_004655.4(AXIN2):c.1822del:p.Leu608fs	coding	Pathogenic
17	65536975	C	CGGGGGCCCCTCCTTCCCTGGCGGGCAGGGCCA	C65537010G	AXIN2	NM_004655.4(AXIN2):c.1769_1800dup:p.Gly601fs	coding	Pathogenic
17	65536980	G	GC	T65536985C	AXIN2	NM_004655.4(AXIN2):c.1795dup:p.Ala599fs	coding	Pathogenic
17	65537389	AT	A	T65537390A	AXIN2	NM_004655.4(AXIN2):c.1646del:p.Tyr549fs	coding	Pathogenic
17	65537398	GC	G	C65537403A	AXIN2	NM_004655.4(AXIN2):c.1637del:p.Gly546fs	coding	Pathogenic
17	65537422	C	CCGCTGCGTGGCCTCCG	C65537440G	AXIN2	NM_004655.4(AXIN2):c.1598_1613dup:p.Val539fs	coding	Pathogenic
17	65537563	G	GGCCGCGGGAGGCA	T65537579C	AXIN2	NM_004655.4(AXIN2):c.1460_1472dup:p.Pro494fs	coding	Pathogenic
17	65537786	GC	G	C65537791T	AXIN2	NM_004655.4(AXIN2):c.1249del:p.Ala417fs	coding	Pathogenic
17	65537820	C	CCT	T65537831C	AXIN2	NM_004655.4(AXIN2):c.1206_1207AG[6]:p.Gly406fs	coding	Pathogenic
17	65537820	CCT	C	C65537829T	AXIN2	NM_004655.4(AXIN2):c.1206_1207AG[4]:p.Glu405fs	coding	Pathogenic
17	65537852	CAGA	C	A65537855G	AXIN2	NM_004655.4(AXIN2):c.1201-20_1201-18del	noncoding	Benign
17	65538184	AA	GC	A65538184G	AXIN2	NM_004655.4(AXIN2):c.1200+18_1200+19delinsGC	noncoding	Benign
17	65557856	CAG	C	A65557859T	AXIN2	NM_004655.4(AXIN2):c.761_762CT[1]:p.Leu255fs	coding	Pathogenic
17	65557890	G	GA	G65557894A	AXIN2	NM_004655.4(AXIN2):c.730dup:p.Ser244fs	coding	Pathogenic
17	65558256	AG	A	G65558258T	AXIN2	NM_004655.4(AXIN2):c.364del:p.Asn121_Leu122insTer	coding	Pathogenic
17	65558425	CCG	C	C65558426G	AXIN2	NM_004655.4(AXIN2):c.194_195del:p.Pro65fs	coding	Pathogenic
17	65558447	GT	G	T65558449C	AXIN2	NM_004655.4(AXIN2):c.173del:p.Asn58fs	coding	Pathogenic
17	65558748	AG	A	G65558750A	AXIN2	NM_004655.4(AXIN2):c.-116-13del	noncoding	Benign/Likely_benign
17	67344616	ACT	A	C67344619G	PSMD12	NM_002816.5(PSMD12):c.1071_1072del:p.Arg357fs	coding	Pathogenic
17	67347469	GA	G	A67347470C	PSMD12	NM_002816.5(PSMD12):c.526del:p.Ser176fs	coding	Pathogenic
17	67350277	AG	A	G67350279A	PSMD12	NM_002816.5(PSMD12):c.356del:p.Pro119fs	coding	Pathogenic
17	67357537	CAG	C	G67357545A	PSMD12	NM_002816.5(PSMD12):c.142_143CT[3]:p.Leu50fs	coding	Pathogenic
17	67825768	CCGCTGCGGAG	C	G67825776C	BPTF	NM_182641.4(BPTF):c.52_61del:p.Glu18fs	coding	Pathogenic
17	67825971	GC	G	C67825979A	BPTF	NM_182641.4(BPTF):c.255del:p.Ser86fs	coding	Pathogenic
17	67825971	G	GC	A67825980C	BPTF	NM_182641.4(BPTF):c.255dup:p.Ser86fs	coding	Pathogenic
17	67854314	CT	C	T67854315G	BPTF	NM_182641.4(BPTF):c.989del:p.Leu330fs	coding	Pathogenic
17	67866473	T	TA	C67866475A	BPTF	NM_182641.4(BPTF):c.1447dup:p.Thr483fs	coding	Pathogenic
17	67893557	G	GA	G67893560A	BPTF	NM_182641.4(BPTF):c.2245dup:p.Arg749fs	coding	Pathogenic
17	67893655	AGACT	A	G67893660A	BPTF	NM_182641.4(BPTF):c.2346_2349del:p.Thr783fs	coding	Pathogenic
17	67893676	GA	G	A67893680C	BPTF	NM_182641.4(BPTF):c.2366del:p.Asn789fs	coding	Pathogenic
17	67894102	T	TG	A67894105G	BPTF	NM_182641.4(BPTF):c.2482dup:p.Glu828fs	coding	Pathogenic
17	67903834	C	CA	G67903844A	BPTF	NM_182641.4(BPTF):c.2598dup:p.Glu867fs	coding	Pathogenic
17	67909750	AGAAGGACCAAGG	A	G67909751T	BPTF	NM_182641.4(BPTF):c.2982_2992+1del	coding	Pathogenic
17	67911180	CA	C	A67911186T	BPTF	NM_182641.4(BPTF):c.3302del:p.Asn1101fs	coding	Pathogenic
17	67912719	CTG	C	T67912722G	BPTF	NM_182641.4(BPTF):c.4836_4837TG[1]:p.Val1613fs	coding	Pathogenic
17	67918745	GGA	G	A67918747T	BPTF	NM_182641.4(BPTF):c.5337_5338del:p.Val1780fs	coding	Pathogenic
17	67922929	AT	A	T67922931G	BPTF	NM_182641.4(BPTF):c.5649del:p.Ile1883fs	coding	Pathogenic
17	67959642	T	TCCTCCAGCCCCTCCAGCC	C67959667G	BPTF	NM_182641.4(BPTF):c.8035_8043GCCCCTCCA[4]:p.2676_2678APP[5]	coding	Benign
17	68515413	G	GT	A68515415T	PRKAR1A	NM_212472.2(PRKAR1A):c.15dup:p.Thr6fs	coding	Pathogenic
17	68515466	C	CAG	A68515470G	PRKAR1A	NM_212472.2(PRKAR1A):c.69_70dup:p.Lys24fs	coding	Pathogenic
17	68515479	TTCAAGCGCTGC	T	G68515484A	PRKAR1A	NM_212472.2(PRKAR1A):c.85_95del:p.Ala29fs	coding	Pathogenic
17	68515496	GATTCT	G	C68515500G	PRKAR1A	NM_212472.2(PRKAR1A):c.101_105del:p.Ser34fs	coding	Pathogenic
17	68515537	CA	C	A68515538T	PRKAR1A	NM_212472.2(PRKAR1A):c.139del:p.Met47fs	coding	Pathogenic
17	68522790	CAGGCACTCGTACAGACTCAAGGGAGGATGAGATTT	C	A68522791C	PRKAR1A	NM_212472.2(PRKAR1A):c.213_247del:p.Gly72fs	coding	Pathogenic
17	68523716	C	CT	C68523721T	PRKAR1A	NM_212472.2(PRKAR1A):c.349-5dup	noncoding	Benign/Likely_benign
17	68523732	CA	C	A68523736G	PRKAR1A	NM_212472.2(PRKAR1A):c.360del:p.Asp121fs	coding	Pathogenic
17	68523749	A	AT	G68523751T	PRKAR1A	NM_212472.2(PRKAR1A):c.374dup:p.Met125fs	coding	Pathogenic
17	68523760	A	AG	C68523762G	PRKAR1A	NM_212472.2(PRKAR1A):c.385dup:p.Ala129fs	coding	Pathogenic
17	68523780	ATG	A	T68523783C	PRKAR1A	NM_212472.2(PRKAR1A):c.405_406TG[1]:p.Val136fs	coding	Pathogenic
17	68523806	AATGAGAGAAG	A	A68523807G	PRKAR1A	NM_002734.5(PRKAR1A):c.431_440del:p.Asn144fs	coding	Pathogenic
17	68524062	AC	A	C68524063T	PRKAR1A	NM_212472.2(PRKAR1A):c.488del:p.Thr163fs	coding	Pathogenic
17	68524063	CTG	C	T68524066A	PRKAR1A	NM_212472.2(PRKAR1A):c.489_490TG[1]:p.Val164fs	coding	Pathogenic
17	68524935	GTGAT	G	T68524940C	PRKAR1A	NM_002734.5(PRKAR1A):c.531_534del:p.Asp178fs	coding	Pathogenic
17	68525744	TGCACTTTA	T	C68525746G	PRKAR1A	NM_212472.2(PRKAR1A):c.550-8_550-1del	noncoding	Pathogenic
17	68525770	AA	CAC	A68525770C	PRKAR1A	NM_212472.2(PRKAR1A):c.566_567delinsCAC:p.Glu189fs	coding	Pathogenic
17	68525819	GATTT	G	T68525822G	PRKAR1A	NM_212472.2(PRKAR1A):c.618_621del:p.Ile206fs	coding	Pathogenic
17	68525825	TG	T	G68525827A	PRKAR1A	NM_212472.2(PRKAR1A):c.623del:p.Gly208fs	coding	Pathogenic
17	68525863	ATG	A	T68525866A	PRKAR1A	NM_212472.2(PRKAR1A):c.660_661TG[1]:p.Val221fs	coding	Pathogenic
17	68525896	A	AT	A68525898T	PRKAR1A	NM_212472.2(PRKAR1A):c.693dup:p.Arg232Ter	coding	Pathogenic
17	68525898	A	AG	A68525900G	PRKAR1A	NM_212472.2(PRKAR1A):c.695dup:p.Arg233fs	coding	Pathogenic
17	68527823	GTTATTT	G	T68527833G	PRKAR1A	NM_212472.2(PRKAR1A):c.709-7_709-2del	noncoding	Pathogenic
17	68527841	G	GAA	G68527844A	PRKAR1A	NM_212472.2(PRKAR1A):c.711_712dup:p.Ser238fs	coding	Pathogenic
17	68527892	CTATTT	C	T68527895G	PRKAR1A	NM_212472.2(PRKAR1A):c.764_768del:p.Ile255fs	coding	Pathogenic
17	68528886	GG	CT	G68528886C	PRKAR1A	NM_212472.2(PRKAR1A):c.786_787delinsCT:p.Trp262_Glu263delinsCysTer	coding	Pathogenic
17	68528910	A	AT	G68528913T	PRKAR1A	NM_212472.2(PRKAR1A):c.812dup:p.Leu271fs	coding	Pathogenic
17	68528946	T	TA	G68528947A	PRKAR1A	NM_212472.2(PRKAR1A):c.846_847insA:p.Val283fs	coding	Pathogenic
17	68529978	GA	G	A68529979T	PRKAR1A	NM_212472.2(PRKAR1A):c.951del:p.Arg317fs	coding	Pathogenic
17	68530423	AAC	A	C68530425G	PRKAR1A	NM_212472.2(PRKAR1A):c.1122_1123del:p.Asn374fs	coding	Pathogenic
17	68531025	G	GT	C68531037T	PRKAR1A	NM_212472.2(PRKAR1A):c.*587dup	coding	Benign
17	68540888	GGAGCC	G	A68540890C	FAM20A	NM_017565.4(FAM20A):c.1175_1179del:p.Arg392fs	coding	Pathogenic
17	68554804	AG	A	G68554806C	FAM20A	NM_017565.4(FAM20A):c.612del:p.Leu205fs	coding	Pathogenic
17	68600631	CAG	C	A68600634T	FAM20A	NM_017565.4(FAM20A):c.32_33CT[1]:p.Leu12fs	coding	Pathogenic
17	69149049	TGA	T	A69149055G	ABCA10	NM_080282.3(ABCA10):c.4511_4512TC[2]:p.Gln1506fs	coding	Benign
17	69154324	C	CACCTGGAA	G69154333A	ABCA10	NM_080282.3(ABCA10):c.3695-6_3696dup	coding	Benign
17	70175305	GCCTGGCTTTCGT	G	G70175310T	KCNJ2	NM_000891.2(KCNJ2):c.271_282del:p.Ala91_Leu94del	coding	Pathogenic
17	70175756	AG	A	G70175760A	KCNJ2	NM_000891.3(KCNJ2):c.721del:p.Glu241fs	coding	Pathogenic
17	70176139	TC	T	C70176141T	KCNJ2	NM_000891.2(KCNJ2):c.1102del:p.Leu368fs	coding	Pathogenic
17	70176962	G	GGTT	T70176972G	KCNJ2	NM_000891.2(KCNJ2):c.*646_*648dupGTT	noncoding	Benign
17	70177991	A	AT	C70178002T	KCNJ2	NM_000891.2(KCNJ2):c.*1678dup	noncoding	Benign
17	72121686	AG	A	G72121687C	SOX9	NM_000346.4(SOX9):c.296del:p.Ser99fs	coding	Pathogenic
17	72122758	GGCGGAGCGGCT	G	G72122762C	SOX9	NM_000346.4(SOX9):c.475_485del:p.Glu159fs	coding	Pathogenic
17	72122839	CG	C	G72122842C	SOX9	NM_000346.4(SOX9):c.555del:p.Gln186fs	coding	Pathogenic
17	72122914	CG	C	G72122915A	SOX9	NM_000346.4(SOX9):c.628del:p.Asp210fs	coding	Pathogenic
17	72123592	G	GC	A72123594C	SOX9	NM_000346.4(SOX9):c.736dup:p.Gln246fs	coding	Pathogenic
17	72123594	AG	A	G72123595C	SOX9	NM_000346.4(SOX9):c.738del:p.Gln246fs	coding	Pathogenic
17	72123639	A	AG	C72123646G	SOX9	NM_000346.4(SOX9):c.788dup:p.Arg264fs	coding	Pathogenic
17	72123886	G	GC	A72123889C	SOX9	NM_000346.4(SOX9):c.1031dup:p.Pro345fs	coding	Pathogenic
17	72123909	AGGCCCCGCC	A	C72123918A	SOX9	NM_000346.4(SOX9):c.1061_1069del:p.Pro354_Pro356del	coding	Benign
17	72123956	CC	G	C72123956G	SOX9	NM_000346.4(SOX9):c.1099_1100delinsG:p.Pro367fs	coding	Pathogenic
17	72123959	C	CA	G72123961A	SOX9	NM_000346.4(SOX9):c.1103dup:p.Gln369fs	coding	Pathogenic
17	72124116	ACAGCCCCTTCAACCTCC	A	G72124119C	SOX9	NM_000346.4(SOX9):c.1262_1278del:p.Ser421fs	coding	Pathogenic
17	72124168	CTCACAGTACGACTACACCG	C	T72124169A	SOX9	NM_000346.4(SOX9):c.1312_1330del:p.Ser438fs	coding	Pathogenic
17	72126364	CT	C	T72126376G	SOX9	NM_000346.4(SOX9):c.*1989del	noncoding	Benign
17	73206747	G	GC	G73206754C	COG1	NM_018714.3(COG1):c.2665dup:p.Arg889fs	coding	Pathogenic
17	74274284	GAGCCGCGACC	G	A74274285G	DNAI2	NM_023036.6(DNAI2):c.-72_-63del	noncoding	Benign
17	74310025	C	CG	A74310027G	DNAI2	NM_023036.6(DNAI2):c.1357dup:p.Glu453fs	coding	Pathogenic
17	74310087	TG	T	G74310091A	DNAI2	NM_023036.6(DNAI2):c.1422del:p.Thr475fs	coding	Pathogenic
17	74310097	C	CA	C74310099A	DNAI2	NM_023036.6(DNAI2):c.1429dup:p.Thr477fs	coding	Pathogenic
17	74310128	AC	CATT	A74310128C	DNAI2	NM_023036.6(DNAI2):c.1459_1460delinsCATT:p.Thr487fs	coding	Pathogenic
17	74312190	AG	A	G74312191A	DNAI2	NM_023036.6(DNAI2):c.1683del:p.Lys562fs	coding	Pathogenic
17	74312204	GA	G	A74312205C	DNAI2	NM_023036.6(DNAI2):c.1697del:p.Asp566fs	coding	Pathogenic
17	74314158	AG	A	G74314161A	DNAI2	NM_023036.6(DNAI2):c.1763del:p.Gly588fs	coding	Pathogenic
17	74344293	AG	A	G74344298T	KIF19	NM_153209.4(KIF19):c.532del:p.Gly177_Val178insTer	coding	Benign
17	74919831	A	AC	A74919837C	USH1G	NM_173477.5(USH1G):c.1004dup:p.Leu336fs	coding	Pathogenic
17	74919981	A	AC	G74919983C	USH1G	NM_173477.5(USH1G):c.854dup:p.Ala286fs	coding	Pathogenic/Likely_pathogenic
17	74919984	GGAGACGCTGTCCTCGTCCGA	G	A74919988G	USH1G	NM_173477.5(USH1G):c.832_851del:p.Ser278fs	coding	Pathogenic
17	74920023	CG	C	G74920027C	USH1G	NM_173477.5(USH1G):c.812del:p.Pro271fs	coding	Pathogenic
17	74920441	A	AC	A74920444C	USH1G	NM_173477.5(USH1G):c.394dup:p.Val132fs	coding	Pathogenic
17	74920627	T	TGA	C74920629A	USH1G	NM_173477.5(USH1G):c.208_209insTC:p.His70fs	coding	Pathogenic
17	74920630	A	AG	T74920635G	USH1G	NM_173477.5(USH1G):c.205dup:p.Leu69fs	coding	Pathogenic
17	74920648	ATG	A	G74920650C	USH1G	NM_173477.5(USH1G):c.186_187del:p.Ile63fs	coding	Pathogenic
17	74922961	CAG	C	A74922966T	USH1G	NM_173477.5(USH1G):c.111_112del:p.Trp38fs	coding	Pathogenic
17	75488016	T	TGC	A75488019G	TMEM94	NM_014738.6(TMEM94):c.495_496dup:p.His166fs	coding	Pathogenic
17	75489310	AC	A	C75489311A	TMEM94	NM_014738.6(TMEM94):c.810del:p.Asp270fs	coding	Pathogenic
17	75494905	G	GA	T75494912A	TMEM94	NM_014738.6(TMEM94):c.2605dup:p.Met869fs	coding	Pathogenic
17	75517101	CGCCCTCCCT	C	G75517120C	TSEN54	NM_207346.3(TSEN54):c.285+30GCCCTCCCT[2]	noncoding	Benign
17	75521460	GCA	G	A75521462T	TSEN54	NM_207346.3(TSEN54):c.575_576del:p.His192fs	coding	Pathogenic
17	75521750	CAA	C	A75521751G	TSEN54	NM_207346.3(TSEN54):c.670_671del:p.Lys224fs	coding	Pathogenic
17	75521899	AG	A	G75521904T	TSEN54	NM_207346.3(TSEN54):c.823del:p.Val275fs	coding	Pathogenic
17	75522018	AC	A	C75522021T	TSEN54	NM_207346.3(TSEN54):c.940del:p.Leu314fs	coding	Pathogenic
17	75522069	CG	C	G75522072A	TSEN54	NM_207346.3(TSEN54):c.991del:p.Glu331fs	coding	Pathogenic
17	75522139	G	GGGAGCACCACGCGGAGGCC	C75522160G	TSEN54	NM_207346.3(TSEN54):c.1060_1078dup:p.Ala360fs	coding	Pathogenic
17	75522201	CGG	GGC	C75522201G	TSEN54	NM_207346.3(TSEN54):c.1120_1122delinsGGC:p.Arg374Gly	coding	Benign
17	75522250	TGCAGAGGAGCCAGC	T	A75522253C	TSEN54	NM_207346.3(TSEN54):c.1172_1185del:p.Gln391fs	coding	Pathogenic
17	75523683	GC	G	C75523684T	TSEN54	NM_207346.3(TSEN54):c.1335del:p.Leu446fs	coding	Pathogenic/Likely_pathogenic
17	75523734	G	GAT	A75523736T	TSEN54	NM_207346.3(TSEN54):c.1386_1387insTA:p.Lys463Ter	coding	Pathogenic
17	75523743	A	AC	T75523747C	TSEN54	NM_207346.3(TSEN54):c.1397dup:p.Gly467fs	coding	Pathogenic
17	75630842	G	GTGT	G75630843T	RECQL5	NM_004259.7(RECQL5):c.1586-6_1586-5insACA	noncoding	Benign
17	75727414	ACCGGCGCTGCAACACCCAGGCGGAGCTGCTGGC	A	C75727416G	ITGB4	NM_000213.5(ITGB4):c.175_207del:p.Arg59_Ala69del	coding	Pathogenic
17	75729291	A	AC	T75729299C	ITGB4	NM_000213.5(ITGB4):c.600dup:p.Phe201fs	coding	Pathogenic
17	75751112	G	GT	A75751114T	ITGB4	NM_000213.5(ITGB4):c.3793+2dup	noncoding	Pathogenic
17	75755758	TG	T	G75755762C	ITGB4	NM_000213.5(ITGB4):c.4620del:p.Thr1542fs	coding	Pathogenic
17	75755774	CAG	C	A75755777T	ITGB4	NM_000213.5(ITGB4):c.4633_4634AG[1]:p.Arg1545fs	coding	Pathogenic
17	75755781	AGCTG	A	T75755784A	ITGB4	NM_000213.5(ITGB4):c.4642_4645del:p.Trp1548fs	coding	Pathogenic
17	75756420	TC	T	C75756426A	ITGB4	NM_000213.5(ITGB4):c.4709-3del	noncoding	Benign/Likely_benign
17	75758221	GCATGGCGTGGGGA	CAT	G75758221C	GALK1	NM_000154.2(GALK1):c.1083_1096delinsATG:p.Pro362fs	coding	Pathogenic
17	75762735	GC	G	C75762736T	GALK1	NM_000154.2(GALK1):c.761del:p.Ser254fs	coding	Pathogenic
17	75762786	AG	A	G75762789T	GALK1	NM_000154.2(GALK1):c.710del:p.Pro237fs	coding	Pathogenic
17	75762818	CA	C	A75762819T	GALK1	NM_000154.2(GALK1):c.678del:p.Asn226fs	coding	Pathogenic
17	75763094	GA	G	A75763096G	GALK1	NM_000154.2(GALK1):c.530del:p.Phe177fs	coding	Pathogenic
17	75763384	A	AC	A75763391C	GALK1	NM_000154.2(GALK1):c.410dup:p.Gly138fs	coding	Pathogenic/Likely_pathogenic
17	75763384	AC	A	C75763390A	GALK1	NM_000154.2(GALK1):c.410del:p.Gly137fs	coding	Pathogenic/Likely_pathogenic
17	75828923	G	GTCCA	G75828928T	UNC13D	NM_199242.2(UNC13D):c.3011_3014dup:p.Tyr1006fs	coding	Pathogenic
17	75831315	TGTGA	T	A75831319T	UNC13D	NM_199242.3(UNC13D):c.2477_2480del:p.Leu826fs	coding	Pathogenic
17	75831355	C	CG	C75831360G	UNC13D	NM_199242.2(UNC13D):c.2448-11dup	noncoding	Benign
17	75834092	ACTCC	A	C75834095G	UNC13D	NM_199242.2(UNC13D):c.2346_2349del:p.Arg782fs	coding	Pathogenic
17	75834356	ATCTCATGGC	TCGGACAAGGTA	A75834356T	UNC13D	NM_199242.2(UNC13D):c.2258_2267delinsTACCTTGTCCGA:p.Gly753fs	coding	Pathogenic
17	75834485	CCGA	C	C75834486T	UNC13D	NM_199242.3(UNC13D):c.2135_2137del:p.Ile712_Gly713delinsSer	coding	Pathogenic
17	75835417	TCTGCACAGCGCG	T	A75835424C	UNC13D	NM_199242.2(UNC13D):c.1828_1839del:p.Arg610_Gln613del	coding	Pathogenic
17	75835502	G	GA	T75835506A	UNC13D	NM_199242.2(UNC13D):c.1754dup:p.His586fs	coding	Pathogenic
17	75835723	CT	C	T75835724G	UNC13D	NM_199242.3(UNC13D):c.1650del:p.Glu551fs	coding	Pathogenic
17	75840091	C	CGGCTGGCCGAAGT	C75840109G	UNC13D	NM_199242.3(UNC13D):c.865_877dup:p.Arg293fs	coding	Pathogenic
17	75842587	CCAGCAGG	C	C75842591T	UNC13D	NM_199242.3(UNC13D):c.408_414del:p.Cys136fs	coding	Pathogenic
17	75843203	TG	T	G75843206C	UNC13D	NM_199242.2(UNC13D):c.216del:p.Asn73fs	coding	Pathogenic
17	75949227	TC	T	C75949232G	ACOX1	NM_004035.7(ACOX1):c.1717del:p.Asp573fs	coding	Pathogenic
17	75949799	TG	T	G75949800T	ACOX1	NM_004035.7(ACOX1):c.1396del:p.Gln466fs	coding	Pathogenic
17	75960255	CAAGTTCCAGGCGGGCATG	C	T75960259A	ACOX1	NM_004035.7(ACOX1):c.372_389del:p.Phe124_Asn129del	coding	Pathogenic
17	75960324	GA	G	A75960326C	ACOX1	NM_004035.7(ACOX1):c.320del:p.Phe107fs	coding	Pathogenic
17	75960368	GC	G	C75960369A	ACOX1	NM_004035.7(ACOX1):c.276del:p.His93fs	coding	Pathogenic
17	75978663	TG	T	G75978665A	ACOX1	NM_004035.7(ACOX1):c.139del:p.Gln47fs	coding	Pathogenic
17	76088897	TTCAAGCATCAGCCCA	T	A76088900C	EXOC7	NM_001013839.4(EXOC7):c.1059_1073del:p.Asp353_Leu357del	coding	Pathogenic
17	76101846	GGAT	G	G76101850A	EXOC7	NM_001013839.4(EXOC7):c.138ATC[1]:p.Ser48del	coding	Pathogenic
17	76137651	TC	T	C76137655G	FOXJ1	NM_001454.4(FOXJ1):c.967del:p.Glu323fs	coding	Pathogenic
17	76137747	G	GTGCT	G76137752T	FOXJ1	NM_001454.4(FOXJ1):c.868_871dup:p.Thr291fs	coding	Pathogenic
17	76471301	A	AC	T76471304C	RHBDF2	NM_024599.5(RHBDF2):c.*331dup	noncoding	Benign
17	76540199	GCCAA	G	A76540202G	PRCD	NM_001077620.3(PRCD):c.61_64del:p.Asn21fs	coding	Pathogenic
17	76733042	C	CA	G76733044A	METTL23	NM_001206985.2(METTL23):c.-52dup	coding	Pathogenic
17	76733059	CCTCA	C	C76733062G	METTL23	NM_001206983.2(METTL23):c.169_172del:p.His57fs	coding	Pathogenic
17	76733063	ACTGT	A	T76733067G	METTL23	NM_001080510.5(METTL23):c.174_177del:p.Cys58fs	coding	Pathogenic
17	76733069	TG	T	G76733071A	METTL23	NM_001206985.2(METTL23):c.-24del	coding	Pathogenic
17	76733069	T	TG	A76733072G	METTL23	NM_001080510.5(METTL23):c.178dup:p.Glu60fs	coding	Pathogenic
17	76733173	CAAGAT	C	A76733175T	METTL23	NM_001080510.4(METTL23):c.282_286del:p.Gln94fs	coding	Pathogenic
17	77498705	T	TC	A77498714C	SEPTIN9	NM_001113491.2(SEPTIN9):c.*55dup	noncoding	Benign
17	78121613	C	CA	G78121615A	TMC6	NM_007267.7(TMC6):c.1325dup:p.Thr444fs	coding	Pathogenic
17	78123932	AGATGAATGGATGGATGAGTGGAGCTCGGAGCCTGGGTCATGAGGTGGAGGCATTACCTGTACACCAGGGTGATGCAGGTGATAAAGAAGCTCACGCCCACAGTGGAGAGGTAGGCCAGGGGCATGTTGTAGGGCAGGCCACCCACCCTGGGTGTGCACTGGCTGCCATCCAGGGGGCTGCCACACGGCTGGTTCAGCGTGGCGTTACTGTAGTGGCCGTAGTACATGACGGTGTGGGTGAAGCAACCCTGCCACAGGGAGATCCAGCCGAGTCAGGGACTTTCCCCACGCCCCACCCGACCCTCAGGCCTGACAGCCACAGGGGCAGAGCAGGAGGAGGCCAGGCAGGGGCAGTGAGGGAAACAGGGAGGGGCCTTGGCCACAGCAATCTTGGGCCTCCAGCCCCATGGGAACCCCAGCACGATGAGCATCCAGGGTCATTGAGGGGGAGGCGGGGAGCTGGCTGTGGCCACCTGGAGTCACAGCGGGGCAAGGGTTGGGGGCCCCAGGGGAGCTGGGACAAGAAGGGAACACGGTACCAGGGTAGCAGAAGACAGGCACCCCCCGTCCCCCAGTCCTAGGGCTTCCTCACCGCGCCTGTGAGGAGCTCCAGGCCTGTGCAGACGGGGGCAGGGCCCGGCAGGGCGGGTGGGAAGGCGACCTGAGGGCCCATGATGAAGGCCACCAGCAGCAGCAGCAGGAGGGCATTGAAAGCCAGCAGGGTCTTGAGAAAGAG	A	T78123935A	TMC6	NM_007267.7(TMC6):c.748_1082+56del	noncoding	Pathogenic
17	78124103	AG	A	G78124108C	TMC6	NM_007267.7(TMC6):c.967del:p.Leu323fs	coding	Pathogenic
17	78137732	G	GT	G78137734T	TMC8	NM_152468.5(TMC8):c.1268dup:p.Glu425fs	coding	Pathogenic
17	78138652	TG	T	G78138655C	TMC8	NM_152468.5(TMC8):c.1746del:p.Leu583fs	coding	Pathogenic
17	78476713	TGCTGTGGAAAATAAGAGTC	T	G78476714C	DNAH17	NM_173628.4(DNAH17):c.7994_8012del:p.Gly2665fs	coding	Pathogenic
17	78567156	TTA	T	T78567159G	DNAH17	NM_173628.4(DNAH17):c.1291_1292TA[1]:p.Tyr431_Lys432delinsTer	coding	Pathogenic
17	78993846	G	GGCGGC	T78993849G	CANT1	NM_001159773.2(CANT1):c.909_910insGCCGC:p.Gln304fs	coding	Pathogenic
17	78993849	T	TGGCGC	A78993863G	CANT1	NM_001159773.2(CANT1):c.897_901GCGCC[3]:p.Ser303fs	coding	Pathogenic
17	78995118	CG	C	G78995121T	CANT1	NM_001159773.2(CANT1):c.734del:p.Pro245fs	coding	Pathogenic
17	78997344	CA	C	A78997345G	CANT1	NM_001159773.2(CANT1):c.278del:p.Leu93fs	coding	Pathogenic
17	78997344	CAG	C	A78997345G	CANT1	NM_001159773.2(CANT1):c.277_278del:p.Leu93fs	coding	Pathogenic
17	79834118	T	TGCCGCC	A79834128G	CBX4	NM_003655.3(CBX4):c.1515_1517GGC[5]:p.Ala509_Ala510dup	coding	Benign
17	80039965	GC	G	C80039966T	CCDC40	NM_017950.4(CCDC40):c.248del:p.Ala83fs	coding	Pathogenic
17	80040112	G	GTTAGCGGGGAGGCTGGTCTCCAAGGC	C80040141A	CCDC40	NM_017950.4(CCDC40):c.397_422dup:p.Phe141fs	coding	Pathogenic
17	80050196	G	GA	G80050198A	CCDC40	NM_017950.4(CCDC40):c.1073dup:p.Arg359fs	coding	Pathogenic
17	80058954	CG	C	G80058956A	CCDC40	NM_017950.4(CCDC40):c.1416del:p.Ile473fs	coding	Pathogenic
17	80081601	TC	T	C80081603A	CCDC40	NM_017950.4(CCDC40):c.1620del:p.Ile541fs	coding	Pathogenic
17	80081958	CT	TG	C80081958T	CCDC40	NM_017950.4(CCDC40):c.1889_1890delinsTG:p.Ala630Val	coding	Benign
17	80084934	AGG	A	G80084936C	CCDC40	NM_017950.4(CCDC40):c.2183_2184del:p.Gly728fs	coding	Pathogenic
17	80086000	TA	T	A80086001G	CCDC40	NM_017950.4(CCDC40):c.2236-2del	noncoding	Pathogenic
17	80087748	CA	ACCG	C80087748A	CCDC40	NM_017950.4(CCDC40):c.2591_2592delinsACCG:p.Thr864fs	coding	Pathogenic
17	80089876	A	ACTGT	G80089877C	CCDC40	NM_017950.4(CCDC40):c.2824_2825insCTGT:p.Arg942fs	coding	Pathogenic
17	80089876	A	ATGT	G80089877T	CCDC40	NM_017950.4(CCDC40):c.2824_2825insTGT:p.Arg942delinsMetTrp	coding	Pathogenic
17	80095281	C	CT	G80095283T	CCDC40	NM_017950.4(CCDC40):c.2852dup:p.Lys952fs	coding	Pathogenic
17	80095430	G	GA	T80095435A	CCDC40	NM_017950.4(CCDC40):c.3004dup:p.Ile1002fs	coding	Pathogenic
17	80097351	AC	A	C80097352T	CCDC40	NM_017950.4(CCDC40):c.3129del:p.Phe1044fs	coding	Pathogenic
17	80097377	AC	A	C80097380G	CCDC40	NM_017950.4(CCDC40):c.3157del:p.Arg1053fs	coding	Pathogenic/Likely_pathogenic
17	80104728	GTCCTGGAGGAGACTCACCCAGCTCACCAGCAGGGAGCCAGCAGACCAGGGCCCCGGGATGCCCAGGCACACCCCGGCCGTCCCAGAGCAGTGCCCACACAGTGCGACGTCCCCCCCAACAGCCGCTTCGATTGCGCCCCTGACAAGGCCATCACCCAGGAACAGTGCGAGGCCCGCGGCTGTTGCTACATCCCTGCAAAGCAGGGGCTGCAGGGAGCCCAGATGGGGCAGCCCTGGTGCTTCTTCCCACCCAGCTACCCCAGCTACAAGCTGGAGAACCTGAGCTCCTCTGAAATGGGCTACACGGCCACCCTGACCCGTACCACCCCCACCTTCTTCCCCAAGGACATCCTGACCCTGCGGCTGGACGTGATGATGGAGACTGAGAACCGCCTCCACTTCACGGTGGGCAGGGCAGGGGCGGGGGCGGCGGCCAGGGCAGAGGGTGCGCGTGGACATCGACACCCACGCACCTCACAAGGGTGGGGTGCATGTTGCACCACTGTGTGCTGGGCCCTTGCTGGGAGCGGAGGTGTGAGCAGACAATGGCAGCGCCCCTCGGGGAGCAGTGGGGACACCACGGTGACAGGTACTCCAGAAGGCAGGGCTCGGGGCTCATTCATCTTTATGAAAAGGTGGGTCAGGTAGAGTAGGGCTGCCAGAGGTTGCGAATGAAAACAGGATGCCCAGTAAACCCGAATTGCAGATACCCCAGGCATGACTTTGTTTTTTTGTGTAAGGATGCAAAATTTGGGATGTATTTATACTAGAAAAGCTGCTTGTTGTTTATCTGAAATTCAGAGTTATCAGGTGTTCTGTATTTTACCTCCATCCTGGGGGAGGCGTCCTCCTCCTGGCTCTGCAGATGAGGGAGCCGAGGCTCAGAGAGGCTGAATGTGCTGCCCATGGTCCCACATCCATGTGTGGCTGCACCAGGACCTGACCTGTCCTTGGCGTGCGGGTTGTTCTCTGGAGAGTAAGGTGGCTGTGGGGAACATCAATAAACCCCCATCTCTTCTAGATCAAAGATCCAGCTAACAGGCGCTACGAGGTGCCCTTGGAGACCCCGCATGTCCACAGCCGGGCACCGTCCCCACTCTACAGCGTGGAGTTCTCCGAGGAGCCCTTCGGGGTGATCGTGCGCCGGCAGCTGGACGGCCGCGTGCTGTGAGTTCTGGGCTCTGTGCCAGCATGATGGGGAGGGCGACGCGCATTTCTCACACGGCAGGGAGGGCCACACGCGTTTGTTTCTCACACGATGGGCAGGGCGACACATGTTTGTTTCTCACACGGCGGGGAGGGCGACGGGCATTTCTCACAGGGCGCTCCCTGGGTCTTTTACTCACATAGGTCTAAATCCCATGTAAACACGTGTTCAGGACTCACCAAGCCCCTGCTTGTCATTTAACTCAGGAAAACTCTCAGGAACGACAGCACTTGGATTTGCCTTAATCTTAAGAGAAGTTGCCTTCGGAAATGCGTTTTTCTTTTTTTGCTCATTCATTTACTCAGTGTCCACGCACTGACCCTCCGTGCCGGGTGGTTTGGATCCTGCTCCCGGGGACAGACACACAGTGAGGGGAAGCCATAAGCAAGTCCATGCAGACACAGCGTCAGGGAGTGGTCATGCAGAGAGCACGCTAGAAGCCAGCTGTGCAGACACGGGGCAGGGAGGTCCCCTCTAGAAGCCAGCTGTGCAGACGCAGGGGACAGGGATGGCCTCTCTGGAAGCCAGCTGTGCAGATGTTGGGGGCAGGGGTGGCCTCTCTGGAAGCCAGCTGTGCAGGAGTGGGGGGTGGGGAGGCCACTCTGGAAACCAGCTGTGCAGATGCAGGGGACAGGGGTGGCCTCTCTGAGCTGACCTCTGAGTAGAGAGACCCAAGAGAAGTTTCTCAAAGCATCTTATCAAGCTAGGTATGGTGGTTCATGTCTGCAATTCCAGCACTTTGGGAGGCCAAGGCGAGAGGGTCACTTGAGCCCAGGAGTTCAAGACCATCCTGGGCAACATAGCAAGACCCCATCTCTTAAAAAATAAAAATAAAAAATTAGCTGGGAATTGTGGCACATGCCTGTGGTCCCAGCTACTCAGGAGGCTGAGGCAAGAGGATCCCTTGAGCCCAGGGGTTCGAGGTTGCAGTGAACCATGATTTTGCCACTGCACTTCAGCCTTGCTGAAGACCCCGTCTCAAAAAACAAACAACAAACAGGCATCTTATCAGATCTCGGTCTTGAAAGCACTCAGCGTAGTCTTGCCCAGGGGAGGGTGGGTGCGGTGTGAGCCCGTCCTGCGAAATTAGCTGTGCTGTGTTAACAGAGGACGCGTCTTCCTGTGGACCGGGTTTATCTGCGGCTTTCATTTCTCGGAGGTGCTGTTTGCCTTGCACTTGACCCCCAGCAAACCTCAGGGGTCCTTCTCAGGCATGGCTGGGCTGGGATCTGGGAGGACTTTGGCCACAAGCTCCTAGGCCTGGAAAGGTTCTGTTCAGCCCCTGCCCAGCCTTGCTTGGGGTCATGGGACAGGCATGTGTGCCAGTTCCGGTACCAGCCAGTTCCTGGAGGTCAGCCCCTTGGGGGCCCCTCAGGGGTGGTGTGGGCCCAGCCAGGCGGTGCGCCTCTTCTGATATGCCCTGAGAGTTGATCACGCTGGTGCCAGGGTGCCAAGGGCTGCAGGGCTCGGCACGGCCGCCTGTCCCAGGGTCAGTGTGCTGCAGGGCTGGCCAGGCCACTCCGCCCTCCCAGGGCACCAGGGCCCGGGGGTGCTCTCTGGGTGCTCTCAGGCTCGTGTGGCCCCTTGGGTGTGAGCAAGCCTGGCTGGCCTCTGTCCCGCAGGCTGAACACGACGGTGGCGCCCCTGTTCTTTGCGGACCAGTTCCTTCAGCTGTCCACCTCGCTGCCCTCGCAGTATATCACAGGCCTCGCCGAGCACCTCAGTCCCCTGATGCTCAGCACCAGCTGGACCAGGATCACCCTGTGGAACCGGGACCTTGCGCCCACGGTACAGCGGCGGGCGGCGGGCGGGGGCACTGAGCTGGGGAGCGCAGGTGCTGAAGCGCCGTC	G	G80104734C	GAA	NM_000152.5(GAA):c.148_859-11del	coding	Pathogenic
17	80104815	GCAGTGCCCACA	G	C80104822G	GAA	NM_000152.5(GAA):c.236_246del:p.Pro79fs	coding	Pathogenic
17	80104837	T	TC	A80104845C	GAA	NM_000152.5(GAA):c.258dup:p.Asn87fs	coding	Pathogenic
17	80104950	AT	A	T80104951G	GAA	NM_000152.5(GAA):c.365del:p.Met122fs	coding	Pathogenic/Likely_pathogenic
17	80104963	GGT	G	T80104965C	GAA	NM_000152.5(GAA):c.379_380del:p.Cys127fs	coding	Pathogenic
17	80105065	TCC	T	C80105068A	GAA	NM_000152.5(GAA):c.482_483del:p.Pro161fs	coding	Pathogenic
17	80105110	CT	C	T80105111G	GAA	NM_000152.5(GAA):c.525del:p.Glu176fs	coding	Pathogenic
17	80105110	CTG	C	T80105111A	GAA	NM_000152.5(GAA):c.525_526del:p.Asn177fs	coding	Pathogenic
17	80105131	CGGTG	C	T80105134C	GAA	NM_000152.5(GAA):c.546+2_546+5del	coding	Pathogenic
17	80107579	CT	C	T80107580G	GAA	NM_000152.5(GAA):c.716del:p.Leu239fs	coding	Pathogenic
17	80107584	CTT	C	T80107586G	GAA	NM_000152.5(GAA):c.722_723del:p.Phe241fs	coding	Pathogenic
17	80107618	C	CT	G80107620T	GAA	NM_000152.5(GAA):c.755dup:p.Pro253fs	coding	Pathogenic
17	80107620	GC	G	C80107623T	GAA	NM_000152.5(GAA):c.759del:p.Ser254fs	coding	Pathogenic
17	80107630	TATATCACAGGCCTCGCCGA	C	T80107630C	GAA	NM_000152.5(GAA):c.766_785delinsC:p.Tyr256fs	coding	Pathogenic
17	80107663	CTGAT	A	C80107663A	GAA	NM_000152.5(GAA):c.799_803delinsA:p.Leu267fs	coding	Pathogenic
17	80107727	A	AGCAGCAG	G80107730A	GAA	NM_000152.5(GAA):c.858+7_858+8insAGCAGGC	noncoding	Benign/Likely_benign
17	80107727	A	AGCAGCGG	G80107730A	GAA	NM_000152.5(GAA):c.858+7_858+8insAGCGGGC	noncoding	Benign
17	80107727	A	AGCGGCGG	G80107746C	GAA	NM_000152.5(GAA):c.858+6GCGGCGG[3]	noncoding	Benign/Likely_benign
17	80108383	TG	T	G80108385T	GAA	NM_000152.5(GAA):c.1051del:p.Val351fs	coding	Pathogenic
17	80108541	GG	C	G80108541C	GAA	NM_000152.5(GAA):c.1128_1129delinsC:p.Trp376fs	coding	Pathogenic
17	80108554	AC	A	C80108556G	GAA	NM_000152.5(GAA):c.1143del:p.Ala382fs	coding	Pathogenic
17	80108563	AC	A	C80108566G	GAA	NM_000152.5(GAA):c.1153del:p.Arg385fs	coding	Pathogenic
17	80108600	TC	T	C80108605T	GAA	NM_000152.5(GAA):c.1192del:p.Leu398fs	coding	Pathogenic
17	80108600	T	TC	T80108606C	GAA	NM_000152.5(GAA):c.1192dup:p.Leu398fs	coding	Pathogenic
17	80108725	T	TG	A80108728G	GAA	NM_000152.5(GAA):c.1225dup:p.Asp409fs	coding	Pathogenic
17	80108728	A	AG	C80108729G	GAA	NM_000152.5(GAA):c.1226_1227insG:p.Asp409fs	coding	Pathogenic
17	80108793	C	CTGCA	C80108798T	GAA	NM_000152.5(GAA):c.1292_1295dup:p.Gln433fs	coding	Pathogenic
17	80109963	T	TCGGGCCCTGCCGGGAGCTA	A80109984G	GAA	NM_000152.5(GAA):c.1347_1365dup:p.Arg456fs	coding	Pathogenic
17	80109972	GC	G	C80109974G	GAA	NM_000152.5(GAA):c.1356del:p.Ser454fs	coding	Pathogenic
17	80109994	A	AC	G80109996C	GAA	NM_000152.5(GAA):c.1377dup:p.Glu460fs	coding	Pathogenic
17	80110008	AG	A	G80110014T	GAA	NM_000152.5(GAA):c.1396del:p.Val466fs	coding	Pathogenic
17	80110024	CCAA	C	A80110026G	GAA	NM_000152.5(GAA):c.1408_1410del:p.Asn470del	coding	Pathogenic
17	80110028	CGAGA	C	G80110029C	GAA	NM_000152.5(GAA):c.1411_1414del:p.Glu471fs	coding	Pathogenic
17	80110044	CTGA	GTTGG	C80110044G	GAA	NM_000152.5(GAA):c.1426_1429delinsGTTGG:p.Leu476fs	coding	Pathogenic
17	80110729	AT	A	T80110730G	GAA	NM_000152.5(GAA):c.1441del:p.Trp481fs	coding	Pathogenic
17	80110749	T	TC	G80110754C	GAA	NM_000152.5(GAA):c.1464dup:p.Asp489fs	coding	Pathogenic
17	80110806	T	TC	A80110809C	GAA	NM_000152.5(GAA):c.1519dup:p.His507fs	coding	Pathogenic
17	80110967	CA	C	A80110968G	GAA	NM_000152.5(GAA):c.1579del:p.Arg527fs	coding	Pathogenic
17	80110974	TC	GT	T80110974G	GAA	NM_000152.5(GAA):c.1585_1586delinsGT:p.Ser529Val	coding	Pathogenic
17	80111990	T	TG	A80111997G	GAA	NM_000152.5(GAA):c.1650dup:p.Thr551fs	coding	Pathogenic
17	80111997	AC	A	C80112000T	GAA	NM_000152.5(GAA):c.1654del:p.Leu552fs	coding	Pathogenic
17	80112584	GGTGA	T	G80112584T	GAA	NM_000152.5(GAA):c.1761_1765delinsT:p.Val588fs	coding	Pathogenic
17	80112644	C	CCGATA	C80112652A	GAA	NM_000152.5(GAA):c.1824_1828dup:p.Ala610fs	coding	Pathogenic
17	80112648	T	TA	C80112650A	GAA	NM_000152.5(GAA):c.1826dup:p.Tyr609Ter	coding	Pathogenic
17	80112649	AC	A	C80112650G	GAA	NM_000152.5(GAA):c.1827del:p.Arg608_Tyr609insTer	coding	Pathogenic
17	80112893	CTGCTGGGGG	C	T80112897C	GAA	NM_000152.5(GAA):c.1910_1918del:p.Leu637_Val639del	coding	Pathogenic
17	80112948	CAGA	C	A80112949G	GAA	NM_000152.5(GAA):c.1962_1964del:p.Glu656del	coding	Pathogenic
17	80113240	G	GCGAGC	G80113248A	GAA	NM_000152.5(GAA):c.2066_2070dup:p.Ala691fs	coding	Pathogenic
17	80113254	C	CA	G80113256A	GAA	NM_000152.5(GAA):c.2078dup:p.Ala694fs	coding	Pathogenic
17	80113257	GC	G	C80113259A	GAA	NM_000152.5(GAA):c.2082del:p.Ala694_Met695insTer	coding	Pathogenic
17	80113315	TC	T	C80113317A	GAA	NM_000152.5(GAA):c.2140del:p.His714fs	coding	Pathogenic
17	80113333	CG	C	G80113338A	GAA	NM_000152.5(GAA):c.2161del:p.Glu721fs	coding	Pathogenic
17	80113344	GTGGCCCGGCCCC	TGCGACGTGG	G80113344T	GAA	NM_000152.5(GAA):c.2167_2179delinsTGCGACGTGG:p.Val723_Leu727delinsCysAspValVal	coding	Pathogenic
17	80113360	TC	T	C80113362T	GAA	NM_000152.5(GAA):c.2185del:p.Leu729fs	coding	Pathogenic/Likely_pathogenic
17	80116994	CTG	C	T80116997G	GAA	NM_000152.5(GAA):c.2217_2218TG[1]:p.Val740fs	coding	Pathogenic
17	80117014	T	TG	A80117021G	GAA	NM_000152.5(GAA):c.2242dup:p.Glu748fs	coding	Pathogenic
17	80117059	G	AT	G80117059A	GAA	NM_000152.5(GAA):c.2281delinsAT:p.Ala761fs	coding	Pathogenic/Likely_pathogenic
17	80117634	C	CA	C80117636A	GAA	NM_000152.5(GAA):c.2367dup:p.Pro790fs	coding	Pathogenic/Likely_pathogenic
17	80117699	CT	C	T80117700G	GAA	NM_000152.5(GAA):c.2432del:p.Leu811fs	coding	Pathogenic
17	80117850	GAGGGGCCGCCCCCCGCAGTGTAGGTTATCAAGGAGCCAGCCAGGCCAGTGAGGTGGGGAGGGCACAGCCCCACAAAGGCGTGGAGCATGGCCGGCAGGAGCTCAGTGGTCTGCATGGTGGAGGTTCTGCCGGGCCCGGCCTCGGGCAGCCGTGGGATAGCACTTGAGGTGGGGAAGGTCTTGGGTCATCACCACGGGGTTCCAGCCCCTGCGGCCGCAGGTGTTCCTGCAGATCCTAGTTACTGGCAGCCTGGTGCTGTACCAGCCTAGCATTCCCGGGCCCTGGAGGCCTCCACCTCCACCAGGGTGGGGATGATGACATCACGTGTCCTTCCCTTTCCAGGGCCCTGGCCTCACAACCACAGAGTCCCGCCAGCAGCCCATGGCCCTGGCTGTGGCCCTGACCAAGGGTGGGGAGGCCCGAGGGGAGCTGTTCTGGGACGATGGAGAGAGCCTGGAAGTGCTGGAGCGAGGGGCCTACACACAGGTCATCTTCCTGGCCAGGAATGTGAGTCCTGGGGCTGCTCAGGCTGGTGGGC	G	C80117859G	GAA	NM_000152.5(GAA):c.2481+110_2646+39del	noncoding	Pathogenic
17	80118192	GGGCCCTGGCCTCACAACCACAGAGTCCCGCCAGCAGCCCATGGCCCTGGCTGTGGCCCTGACCAAGGGTGGGGAGGCCCGAGGGGAGCTGTTCTGGGACGATGGAGAGAGCCTGGAAGTGCTGGAGCGAGGGGCCTACACACAGGTCATCTTCCTGGCCAGGAAT	G	G80118194T	GAA	NM_000152.5(GAA):c.2483_2646+1del	coding	Pathogenic
17	80118209	CCA	C	C80118212G	GAA	NM_000152.5(GAA):c.2501_2502del:p.Thr834fs	coding	Pathogenic
17	80118253	AC	A	C80118255A	GAA	NM_000152.5(GAA):c.2544del:p.Lys849fs	coding	Pathogenic
17	80118660	TCG	T	C80118661T	GAA	NM_000152.5(GAA):c.2655_2656del:p.Val886fs	coding	Pathogenic
17	80118706	G	GCTGCAGAAGGTGA	T80118723C	GAA	NM_000152.5(GAA):c.2704_2716dup:p.Val906fs	coding	Pathogenic
17	80118710	CAGA	C	A80118713G	GAA	NM_000152.5(GAA):c.2707_2709del:p.Lys903del	coding	Pathogenic
17	80119283	CTG	C	G80119287C	GAA	NM_000152.5(GAA):c.2815_2816del:p.Val939fs	coding	Pathogenic
17	80210678	CGGAGGTCCTTG	C	G80210679T	SGSH	NM_000199.5(SGSH):c.1272_1282del:p.Tyr424_Arg428delinsTer	coding	Pathogenic/Likely_pathogenic
17	80210825	AC	A	C80210826G	SGSH	NM_000199.5(SGSH):c.1135del:p.Val379fs	coding	Pathogenic
17	80210880	CG	C	G80210882T	SGSH	NM_000199.5(SGSH):c.1080del:p.Val361fs	coding	Pathogenic
17	80210933	A	AG	T80210936G	SGSH	NM_000199.5(SGSH):c.1027dup:p.Leu343fs	coding	Pathogenic
17	80212256	TG	T	G80212258A	SGSH	NM_000199.5(SGSH):c.763del:p.Gln255fs	coding	Pathogenic
17	80213921	ACAG	GC	A80213921G	SGSH	NM_000199.5(SGSH):c.664-39_664-36delinsGC	noncoding	Benign
17	80214718	C	CA	C80214722A	SGSH	NM_000199.5(SGSH):c.402dup:p.Asp135Ter	coding	Pathogenic
17	80214744	A	AC	G80214746C	SGSH	NM_000199.5(SGSH):c.376dup:p.Val126fs	coding	Pathogenic
17	80307125	TAGGATGTTC	T	G80307137A	RNF213	NC_000017.11:g.80307137_80307145del	noncoding	Benign
17	80360054	A	AT	G80360057T	RNF213	NM_001256071.3(RNF213):c.11055-5dup	noncoding	Benign
17	80997348	GC	G	C80997355G	CHMP6	NM_024591.5(CHMP6):c.495+14del	noncoding	Benign
17	81239402	C	CCGCCTCCG	T81239416C	NDUFAF8	NM_001086521.2(NDUFAF8):c.45_52dup:p.Phe18fs	coding	Pathogenic
17	81510872	GC	G	C81510878A	ACTG1	NM_001614.5(ACTG1):c.985-40del	noncoding	Benign
17	81528602	TG	T	G81528603A	FSCN2	NM_001077182.3(FSCN2):c.72del:p.Thr25fs	coding	Benign
17	81868935	TGTC	T	G81868942T	ARHGDIA	NM_004309.6(ARHGDIA):c.547_549GAC[2]:p.Asp185del	coding	Pathogenic
17	81934645	ACACTGACCAGGAGGGCCTGGGCC	A	A81934647C	PYCR1	NM_006907.4(PYCR1):c.618_633+7del	noncoding	Pathogenic
17	81935120	TG	T	G81935125C	PYCR1	NM_006907.4(PYCR1):c.345del:p.Arg116fs	coding	Pathogenic
17	81936737	TG	T	G81936742C	PYCR1	NM_006907.4(PYCR1):c.67+10del	noncoding	Benign/Likely_benign
17	81936755	T	TG	T81936757G	PYCR1	NM_006907.4(PYCR1):c.59dup:p.Ala21fs	coding	Pathogenic
17	81936803	GC	G	C81936806A	PYCR1	NM_006907.4(PYCR1):c.11del:p.Gly4fs	coding	Pathogenic
17	82362585	TC	T	C82362588T	TEX19	NM_207459.4(TEX19):c.438del:p.Trp147fs	coding	Benign
17	82586178	TGGAGACCACAGGGAAGTCAAAGGTAGGCGGAGGGGAAAGGAGGAGAGGGGAGACCACAGGGAGGTGAAAGGTGGGCCGGGGGGGGAAAGGAGGAGAGG	T	A82586193G	FOXK2	NM_004514.4(FOXK2):c.1569_1576+90del	coding	Benign
17	82586206	C	CG	A82586209G	FOXK2	NM_004514.4(FOXK2):c.1576+8dup	noncoding	Benign
17	82832398	T	TGG	A82832401G	ZNF750	NM_024702.3(ZNF750):c.55_56dup:p.Gly20fs	coding	Pathogenic
17	82911756	AG	A	G82911760T	TBCD	NM_005993.4(TBCD):c.2009delG:p.Gly670Valfs	noncoding	Pathogenic
17	82932687	A	AC	A82932690C	TBCD	NM_005993.5(TBCD):c.3145dup:p.His1049fs	coding	Pathogenic
18	348060	A	ATT	A348063T	COLEC12	NM_130386.3(COLEC12):c.280+3_280+4dup	noncoding	Benign
18	2656194	TC	T	C2656195G	SMCHD1	NM_015295.2(SMCHD1):c.120del:p.Asp42fs	coding	Pathogenic
18	2697997	TATATG	T	T2698001G	SMCHD1	NM_015295.2(SMCHD1):c.1302_1306del:p.Tyr434_Arg436delinsTer	coding	Pathogenic
18	2700876	GA	G	A2700879G	SMCHD1	NM_015295.2(SMCHD1):c.1608del:p.Asp537fs	coding	Pathogenic
18	2703712	CAG	C	G2703716A	SMCHD1	NM_015295.2(SMCHD1):c.1670_1671GA[1]:p.Glu558fs	coding	Pathogenic
18	2705720	CTT	C	T2705723A	SMCHD1	NM_015295.2(SMCHD1):c.1872_1873del:p.Phe624fs	coding	Pathogenic
18	2707640	C	CT	A2707642T	SMCHD1	NM_015295.2(SMCHD1):c.2142dup:p.Ile715Tyrfs	coding	Pathogenic
18	2707837	AAG	A	A2707838G	SMCHD1	NM_015295.3(SMCHD1):c.2178_2179del:p.Glu728fs	coding	Pathogenic
18	2732412	AT	A	T2732413G	SMCHD1	NM_015295.2(SMCHD1):c.3197del:p.Met1066fs	coding	Pathogenic
18	2732448	GAA	G	A2732450G	SMCHD1	NM_015295.3(SMCHD1):c.3234_3235del:p.Glu1080fs	coding	Pathogenic
18	2732450	AAG	A	G2732454A	SMCHD1	NM_015295.2(SMCHD1):c.3236_3237GA[1]:p.Glu1080fs	coding	Pathogenic
18	2732485	AAATT	A	T2732488A	SMCHD1	NM_015295.3(SMCHD1):c.3272_3275del:p.Ile1091fs	coding	Pathogenic
18	2732488	TTAAAG	T	A2732492G	SMCHD1	NM_015295.3(SMCHD1):c.3276_3276+4del	coding	Pathogenic
18	2739438	TC	T	C2739440T	SMCHD1	NM_015295.3(SMCHD1):c.3434del:p.Pro1145fs	coding	Pathogenic
18	2750443	AC	A	C2750446G	SMCHD1	NM_015295.2(SMCHD1):c.4104del:p.Val1369fs	coding	Pathogenic
18	2751340	A	AT	C2751344T	SMCHD1	NM_015295.3(SMCHD1):c.4231dup:p.Ser1411fs	coding	Pathogenic
18	2769706	G	GCAGA	A2769711C	SMCHD1	NM_015295.2(SMCHD1):c.4733_4736dup:p.Glu1579fs	coding	Pathogenic
18	2769769	C	CT	A2769774T	SMCHD1	NM_015295.2(SMCHD1):c.4799dup:p.Leu1600fs	coding	Pathogenic
18	2769794	A	AT	A2769796T	SMCHD1	NM_015295.2(SMCHD1):c.4821dup:p.Ile1608fs	coding	Pathogenic
18	2769975	AT	A	T2769983C	SMCHD1	NM_015295.3(SMCHD1):c.4847-6del	noncoding	Benign
18	2771581	TA	T	A2771586T	SMCHD1	NM_015295.2(SMCHD1):c.5020del:p.Ile1674fs	coding	Pathogenic
18	2906766	TCCCCGACGCCCGGCAGAGGCGCCCTCGC	T	A2906772C	EMILIN2	NM_032048.3(EMILIN2):c.2360-11_2376del	noncoding	Benign
18	2919345	C	CT	C2919348T	LPIN2	NM_014646.2(LPIN2):c.*947dup	noncoding	Benign
18	2923758	G	GAT	T2923759A	LPIN2	NM_014646.2(LPIN2):c.2174+16_2174+17insAT	noncoding	Benign
18	2925233	TGAGGA	T	A2925238C	LPIN2	NM_014646.2(LPIN2):c.1924_1928del:p.Ser642fs	coding	Pathogenic
18	2931394	CAG	C	A2931399T	LPIN2	NM_014646.2(LPIN2):c.1312_1313CT[2]:p.Ser439fs	coding	Pathogenic
18	2937815	GAGG	TAC	G2937815T	LPIN2	NM_001375808.2(LPIN2):c.1042_1045delinsGTA:p.Pro348fs	coding	Pathogenic
18	2951103	CAT	C	A2951104G	LPIN2	NM_014646.2(LPIN2):c.540_541del:p.Thr180_Cys181insTer	coding	Pathogenic
18	2960705	A	AACAC	T2960710A	LPIN2	NM_014646.2(LPIN2):c.132_133GT[4]:p.Ser46fs	coding	Pathogenic
18	3129532	GACA	G	A3129539G	MYOM1	NM_003803.3(MYOM1):c.2507-22TGT[2]	noncoding	Benign
18	3189094	CACA	C	C3189099T	MYOM1	NM_003803.3(MYOM1):c.432-10_432-8del	noncoding	Benign
18	3451541	GA	G	A3451542G	TGIF1	NM_003244.3(TGIF1):c.16+1037del	coding	Benign
18	3452224	CT	C	T3452225C	TGIF1	NM_003244.3(TGIF1):c.16+1720del	coding	Benign
18	3457898	AC	A	C3457899G	TGIF1	NM_003244.3(TGIF1):c.778del:p.Arg260fs	coding	Pathogenic
18	3458204	AT	A	T3458214C	TGIF1	NM_003244.3(TGIF1):c.*274del	noncoding	Benign
18	6956767	TAGGTAGAAACAAG	T	G6956770A	LAMA1	NM_005559.4(LAMA1):c.7965-15_7965-3del	coding	Pathogenic
18	6973129	AG	A	G6973133A	LAMA1	NM_005559.4(LAMA1):c.6701del:p.Pro2234fs	coding	Pathogenic
18	6977772	TG	T	G6977773A	LAMA1	NM_005559.4(LAMA1):c.6299del:p.Leu2099_Ser2100insTer	coding	Pathogenic
18	6997871	CT	C	T6997872C	LAMA1	NM_005559.4(LAMA1):c.4676del:p.Glu1559fs	coding	Pathogenic
18	7016493	GT	G	T7016494A	LAMA1	NM_005559.4(LAMA1):c.2986del:p.Thr996fs	coding	Pathogenic
18	7016544	CT	C	T7016548C	LAMA1	NM_005559.4(LAMA1):c.2935del:p.Arg979fs	coding	Pathogenic/Likely_pathogenic
18	7016662	AAT	A	T7016664G	LAMA1	NM_005559.4(LAMA1):c.2816_2817del:p.Tyr939fs	coding	Pathogenic
18	7031987	T	TA	T7031997A	LAMA1	NM_005559.4(LAMA1):c.2274+70dup	noncoding	Benign
18	7034581	CTGTGAAA	C	T7034582A	LAMA1	NM_005559.4(LAMA1):c.1942_1948del:p.Phe648fs	coding	Pathogenic
18	7042162	TG	T	G7042164A	LAMA1	NM_005559.4(LAMA1):c.1243del:p.His415fs	coding	Pathogenic
18	7117659	CCT	C	C7117664G	LAMA1	NM_005559.4(LAMA1):c.56_57AG[2]:p.Gly21fs	coding	Pathogenic
18	7117709	GC	G	C7117714G	LAMA1	NM_005559.4(LAMA1):c.11del:p.Gly4fs	coding	Pathogenic
18	9117903	GGTAA	G	G9117908T	NDUFV2	NM_021074.5(NDUFV2):c.120+5_120+8del	coding	Pathogenic
18	9122506	AT	A	T9122510A	NDUFV2	NM_021074.5(NDUFV2):c.301-3del	noncoding	Benign
18	9134198	C	CG	T9134199G	NDUFV2	NM_021074.5(NDUFV2):c.669_670insG:p.Ser224fs	coding	Pathogenic
18	10671540	TCTCTAGTC	T	T10671542A	PIEZO2	NM_022068.3(PIEZO2):c.8238_8245del:p.Trp2746_Glu2749delinsTer	coding	Pathogenic
18	10671577	AT	A	T10671578A	PIEZO2	NM_022068.3(PIEZO2):c.8208del:p.Tyr2737fs	coding	Pathogenic
18	10671602	ATCT	A	T10671609A	PIEZO2	NM_022068.3(PIEZO2):c.8175_8177AGA[2]:p.Glu2727del	coding	Pathogenic
18	10677883	G	GA	G10677895A	PIEZO2	NM_022068.3(PIEZO2):c.7614-19dup	noncoding	Benign
18	10680239	TG	T	G10680243T	PIEZO2	NM_022068.3(PIEZO2):c.7572del:p.Asn2525fs	coding	Pathogenic
18	10705374	CA	C	A10705375G	PIEZO2	NM_022068.3(PIEZO2):c.5621del:p.Leu1874fs	coding	Pathogenic
18	10705563	TG	T	G10705567T	PIEZO2	NM_001378183.1(PIEZO2):c.5771del:p.Pro1924fs	coding	Pathogenic
18	10744202	AC	A	C10744203A	PIEZO2	NM_001378183.1(PIEZO2):c.4453del:p.Ile1484_Val1485insTer	coding	Pathogenic
18	10758111	CA	C	A10758112C	PIEZO2	NM_022068.3(PIEZO2):c.3705del:p.Cys1235fs	coding	Pathogenic
18	10762939	AGAAGTTCTCAG	A	A10762941C	PIEZO2	NM_022068.3(PIEZO2):c.3020_3030del:p.Pro1007fs	coding	Pathogenic
18	10794978	AGC	TTCG	A10794978T	PIEZO2	NM_022068.3(PIEZO2):c.1550_1552delinsCGAA:p.Ser517fs	coding	Pathogenic
18	11752545	GCTTACA	G	C11752546A	GNAL	NM_182978.4(GNAL):c.377-307_377-302del	coding	Benign
18	11753832	G	GT	C11753836T	GNAL	NM_182978.4(GNAL):c.514dup:p.Ser172fs	coding	Pathogenic
18	11864576	C	CA	C11864578A	GNAL	NM_182978.4(GNAL):c.822dup:p.Arg275fs	coding	Pathogenic
18	12337447	CTG	C	G12337449A	AFG3L2	NM_006796.2(AFG3L2):c.2067_2068del:p.Tyr689_Ser690delinsTer	coding	Pathogenic
18	12337494	GG	TA	G12337494T	AFG3L2	NM_006796.2(AFG3L2):c.2021_2022delinsTA:p.Ser674Leu	coding	Pathogenic
18	12340278	CAG	C	G12340282C	AFG3L2	NM_006796.3(AFG3L2):c.1901_1902del:p.Val633_Ser634insTer	coding	Pathogenic
18	12344197	CCA	C	C12344200G	AFG3L2	NM_006796.3(AFG3L2):c.1710_1711TG[1]:p.Val571fs	coding	Pathogenic
18	12367394	CAA	C	A12367396G	AFG3L2	NM_006796.3(AFG3L2):c.293-14_293-13del	noncoding	Benign/Likely_benign
18	13884816	AG	A	G13884821C	MC2R	NM_000529.2(MC2R):c.702del:p.Phe235fs	coding	Pathogenic
18	13884884	CT	C	T13884885G	MC2R	NM_000529.2(MC2R):c.634del:p.Arg212fs	coding	Pathogenic
18	13884937	CACA	C	A13884938T	MC2R	NM_000529.2(MC2R):c.579_581del:p.Tyr193_Val194delinsTer	coding	Pathogenic
18	13884958	GA	G	A13884959C	MC2R	NM_000529.2(MC2R):c.560del:p.Val187fs	coding	Pathogenic
18	13885059	T	TG	A13885061G	MC2R	NM_000529.2(MC2R):c.459dup:p.Ile154fs	coding	Pathogenic
18	21449695	AC	A	C21449698A	GREB1L	NM_001142966.2(GREB1L):c.1582del:p.Gln528fs	coding	Pathogenic
18	21452083	GCGATGACCTAGA	G	G21452085A	GREB1L	NM_001142966.2(GREB1L):c.1852_1863del:p.Asp618_Asp621del	coding	Benign
18	21473074	TC	T	C21473075A	GREB1L	NM_001142966.2(GREB1L):c.2227del:p.Gln743fs	coding	Pathogenic
18	21490105	CCG	C	C21490108A	GREB1L	NC_000018.10:g.21490106_21490107CG[1]	coding	Pathogenic
18	21500568	T	TC	T21500571C	GREB1L	NM_001142966.2(GREB1L):c.4000dup:p.Leu1334fs	coding	Pathogenic
18	21520822	AG	A	G21520824T	GREB1L	NM_001142966.2(GREB1L):c.5608+1del	coding	Pathogenic
18	21540013	G	GAT	C21540033T	ESCO1	NM_052911.3(ESCO1):c.1954-22AT[10]	noncoding	Benign
18	21844002	GT	G	T21844003C	MIB1	NM_020774.3(MIB1):c.2050-89del	noncoding	Benign
18	22172065	GC	G	C22172069A	GATA6	NM_005257.5(GATA6):c.925del:p.Gln309fs	coding	Pathogenic
18	22172111	TACC	T	C22172140T	GATA6	NM_005257.5(GATA6):c.969_971CCA[9]:p.His333del	coding	Benign
18	22172210	AC	A	C22172214G	GATA6	NM_005257.6(GATA6):c.1070del:p.Pro357fs	coding	Pathogenic
18	22172214	CG	C	G22172216T	GATA6	NM_005257.5(GATA6):c.1072del:p.Val358fs	coding	Pathogenic
18	22182774	TATGAAAAA	T	T22182776G	GATA6	NM_005257.5(GATA6):c.1448_1455del:p.Met483fs	coding	Pathogenic
18	22182782	AAG	A	A22182785G	GATA6	NM_005257.5(GATA6):c.1455_1456AG[1]:p.Glu486fs	coding	Pathogenic
18	22182830	CAA	C	A22182832G	GATA6	NM_005257.5(GATA6):c.1504_1505del:p.Lys502fs	coding	Pathogenic
18	22993633	CAT	C	T22993635A	RBBP8	NM_002894.2(RBBP8):c.1808_1809delTA:p.Ile603Lysfs	coding	Pathogenic
18	23533363	CTGAG	C	G23533365A	NPC1	NM_000271.5(NPC1):c.3742_3745del:p.Leu1248fs	coding	Pathogenic/Likely_pathogenic
18	23533373	CAG	C	A23533374G	NPC1	NM_000271.5(NPC1):c.3734_3735del:p.Pro1245fs	coding	Pathogenic/Likely_pathogenic
18	23533430	TG	T	G23533431A	NPC1	NM_000271.5(NPC1):c.3678del:p.Phe1226fs	coding	Pathogenic
18	23533446	GA	G	A23533450T	NPC1	NM_000271.5(NPC1):c.3662del:p.Phe1221fs	coding	Pathogenic
18	23533494	TGTAA	T	A23533497G	NPC1	NM_000271.5(NPC1):c.3611_3614del:p.Leu1204fs	coding	Pathogenic
18	23533495	G	GT	A23533497T	NPC1	NM_000271.5(NPC1):c.3613dup:p.Thr1205fs	coding	Pathogenic
18	23534463	C	CAAGT	G23534468A	NPC1	NM_000271.5(NPC1):c.3570_3573dup:p.Ala1192fs	coding	Pathogenic/Likely_pathogenic
18	23534474	TC	T	C23534476G	NPC1	NM_000271.5(NPC1):c.3562del:p.Glu1188fs	coding	Pathogenic
18	23534519	C	CT	G23534521T	NPC1	NM_000271.5(NPC1):c.3517dup:p.Arg1173fs	coding	Pathogenic
18	23535565	CAT	C	A23535566G	NPC1	NM_000271.5(NPC1):c.3379_3380del:p.Met1127fs	coding	Pathogenic
18	23536680	G	GAAAT	C23536686A	NPC1	NM_000271.5(NPC1):c.3234_3237dup:p.Pro1080fs	coding	Pathogenic
18	23538555	TG	T	G23538559T	NPC1	NM_000271.5(NPC1):c.3027del:p.Lys1010fs	coding	Pathogenic
18	23538604	T	TC	T23538611C	NPC1	NM_000271.5(NPC1):c.2978dup:p.Asp994fs	coding	Pathogenic/Likely_pathogenic
18	23538609	CC	AT	C23538609A	NPC1	NM_000271.5(NPC1):c.2973_2974delinsAT:p.Gly992Trp	coding	Pathogenic/Likely_pathogenic
18	23539810	C	CT	A23539812T	NPC1	NM_000271.5(NPC1):c.2795dup:p.Tyr932Ter	coding	Pathogenic
18	23539941	C	CA	G23539943A	NPC1	NM_000271.5(NPC1):c.2664dup:p.Val889fs	coding	Pathogenic
18	23540417	TA	T	A23540433G	NPC1	NM_000271.5(NPC1):c.2604+30del	noncoding	Benign
18	23541376	A	AC	T23541378C	NPC1	NM_000271.5(NPC1):c.2302dup:p.Val768fs	coding	Pathogenic
18	23541391	AAG	A	G23541399A	NPC1	NM_000271.5(NPC1):c.2280_2281CT[3]:p.Phe763fs	coding	Pathogenic
18	23543503	G	GA	G23543505A	NPC1	NM_000271.5(NPC1):c.2196dup:p.Pro733fs	coding	Pathogenic
18	23543572	TAAA	T	A23543588T	NPC1	NM_000271.5(NPC1):c.2131-6_2131-4del	noncoding	Benign
18	23543572	TAA	T	A23543589T	NPC1	NM_000271.5(NPC1):c.2131-5_2131-4del	noncoding	Benign
18	23543572	TA	T	A23543590T	NPC1	NM_000271.5(NPC1):c.2131-4del	noncoding	Benign
18	23544377	CA	C	A23544378C	NPC1	NM_000271.5(NPC1):c.2096del:p.Val699fs	coding	Pathogenic
18	23544943	A	ACCCC	G23544953C	NPC1	NM_000271.5(NPC1):c.1947+8_1947+11dup	noncoding	Benign
18	23544943	A	ACCC	G23544953C	NPC1	NM_000271.5(NPC1):c.1947+8_1947+10dup	noncoding	Benign
18	23544943	A	AC	G23544953C	NPC1	NM_000271.5(NPC1):c.1947+8dup	noncoding	Benign/Likely_benign
18	23544950	C	CG	C23544951G	NPC1	NM_000271.5(NPC1):c.1947+9_1947+10insC	noncoding	Benign/Likely_benign
18	23544952	C	CCCCG	G23544953C	NPC1	NM_000271.5(NPC1):c.1947+7_1947+8insCGGG	noncoding	Benign/Likely_benign
18	23544952	C	CG	C23544955G	NPC1	NM_000271.5(NPC1):c.1947+6dup	noncoding	Benign
18	23544986	GC	G	C23544990A	NPC1	NM_000271.5(NPC1):c.1920del:p.His641fs	coding	Pathogenic/Likely_pathogenic
18	23545000	G	GAAAT	T23545006A	NPC1	NM_000271.5(NPC1):c.1903_1906dup:p.Ser636fs	coding	Pathogenic
18	23545057	C	CT	C23545061T	NPC1	NM_000271.5(NPC1):c.1849dup:p.Ser617fs	coding	Pathogenic
18	23545062	AC	A	C23545063G	NPC1	NM_000271.5(NPC1):c.1844del:p.Arg615fs	coding	Pathogenic
18	23551652	CG	C	G23551655A	NPC1	NM_000271.5(NPC1):c.1628del:p.Pro543fs	coding	Pathogenic
18	23554813	C	CT	C23554817T	NPC1	NM_000271.5(NPC1):c.1497dup:p.Gly500fs	coding	Pathogenic
18	23554941	TAA	T	A23554942G	NPC1	NM_000271.5(NPC1):c.1368_1369del:p.Ser456_Tyr457insTer	coding	Pathogenic
18	23556315	GTGTT	G	T23556319C	NPC1	NM_000271.5(NPC1):c.1250_1253del:p.Lys417fs	coding	Pathogenic
18	23556427	CAG	C	A23556430G	NPC1	NM_000271.5(NPC1):c.1138_1139CT[1]:p.Trp381fs	coding	Pathogenic
18	23556503	AG	A	G23556504A	NPC1	NM_000271.5(NPC1):c.1065del:p.Phe356fs	coding	Pathogenic
18	23556534	GA	G	A23556537G	NPC1	NM_000271.5(NPC1):c.1034del:p.Phe345fs	coding	Pathogenic
18	23556538	GA	G	A23556539C	NPC1	NM_000271.5(NPC1):c.1030del:p.Ser344fs	coding	Pathogenic
18	23556594	G	GTC	A23556597T	NPC1	NM_000271.5(NPC1):c.973_974dup:p.Asp325fs	coding	Pathogenic
18	23560259	CA	C	A23560265C	NPC1	NM_000271.5(NPC1):c.852del:p.Phe284fs	coding	Pathogenic
18	23561464	AG	A	G23561466A	NPC1	NM_000271.5(NPC1):c.526del:p.Leu176fs	coding	Pathogenic
18	23568833	ACT	A	C23568836G	NPC1	NM_000271.5(NPC1):c.449_450AG[1]:p.Ser151fs	coding	Pathogenic/Likely_pathogenic
18	23568861	T	TTC	A23568864T	NPC1	NM_000271.5(NPC1):c.423_424dup:p.Lys142fs	coding	Pathogenic/Likely_pathogenic
18	23568862	T	TTC	C23568863T	NPC1	NM_000271.5(NPC1):c.423_424insGA:p.Lys142fs	coding	Pathogenic
18	23568869	T	TG	T23568871G	NPC1	NM_000271.5(NPC1):c.416dup:p.Asn140fs	coding	Pathogenic
18	23568890	AG	A	G23568892A	NPC1	NM_000271.5(NPC1):c.395del:p.Pro132fs	coding	Pathogenic/Likely_pathogenic
18	23568932	ACT	A	C23568935G	NPC1	NM_000271.5(NPC1):c.350_351AG[1]:p.Gln119fs	coding	Pathogenic
18	23573531	GCA	G	C23573532A	NPC1	NM_000271.5(NPC1):c.99_100del:p.Ala34fs	coding	Pathogenic
18	23573564	TG	T	G23573565T	NPC1	NM_000271.5(NPC1):c.67del:p.Gln23fs	coding	Pathogenic
18	23873194	T	TG	T23873196G	LAMA3	NM_000227.5(LAMA3):c.151dup:p.Val51fs	coding	Pathogenic
18	23894927	AC	A	C23894930T	LAMA3	NM_198129.4(LAMA3):c.5485del:p.Leu1829fs	coding	Pathogenic
18	23898754	AC	A	C23898756G	LAMA3	NM_198129.4(LAMA3):c.5632del:p.Arg1878fs	coding	Pathogenic
18	23901162	CA	C	A23901163G	LAMA3	NM_000227.5(LAMA3):c.1214del:p.Gln405fs	coding	Pathogenic
18	23903036	CAG	C	A23903039T	LAMA3	NM_000227.5(LAMA3):c.1403_1404AG[1]:p.Gln468_Ser469insTer	coding	Pathogenic
18	23904582	TG	T	G23904584T	LAMA3	NM_000227.5(LAMA3):c.1678del:p.Val560fs	coding	Pathogenic/Likely_pathogenic
18	23904644	GC	G	C23904646G	LAMA3	NM_198129.3(LAMA3):c.6567del:p.Glu2190fs	coding	Pathogenic/Likely_pathogenic
18	23932164	CG	C	G23932166C	LAMA3	NM_198129.4(LAMA3):c.8583del:p.Leu2862fs	coding	Pathogenic
18	23932224	TC	T	C23932227G	LAMA3	NM_000227.5(LAMA3):c.3817del:p.Arg1273fs	coding	Pathogenic
18	23949809	GC	G	C23949810T	LAMA3	NM_000227.5(LAMA3):c.4570del:p.Leu1524fs	coding	Pathogenic
18	27952306	T	TAACA	G27952311A	CDH2	NM_001792.5(CDH2):c.2564_2567dup:p.Leu856fs	coding	Pathogenic/Likely_pathogenic
18	27952309	CAG	C	A27952310G	CDH2	NM_001792.5(CDH2):c.2563_2564del:p.Leu855fs	coding	Pathogenic/Likely_pathogenic
18	31068033	T	TTC	G31068037C	DSC2	NM_024422.6(DSC2):c.2686_2687dup:p.Ala897fs	coding	Benign/Likely_benign
18	31068034	T	TTC	C31068035T	DSC2	NM_024422.6(DSC2):c.2686_2687insGA:p.Glu896fs	coding	Benign
18	31068914	TA	T	A31068918C	DSC2	NM_024422.6(DSC2):c.2487del:p.Phe829fs	coding	Pathogenic
18	31070789	AG	A	G31070791A	DSC2	NM_024422.6(DSC2):c.2186del:p.Pro729fs	coding	Pathogenic
18	31074729	AC	A	C31074730T	DSC2	NM_024422.6(DSC2):c.1841del:p.Ser614fs	coding	Pathogenic
18	31080129	TA	T	A31080130T	DSC2	NM_024422.6(DSC2):c.1486del:p.Tyr496fs	coding	Pathogenic
18	31080185	AG	A	G31080186T	DSC2	NM_024422.6(DSC2):c.1430del:p.Thr477fs	coding	Pathogenic
18	31080244	C	CTG	T31080248G	DSC2	NM_024422.6(DSC2):c.1370_1371dup:p.Val458fs	coding	Pathogenic
18	31086560	T	TTAA	G31086565A	DSC2	NM_024422.6(DSC2):c.942+13_942+15dup	noncoding	Benign/Likely_benign
18	31086635	A	AT	A31086637T	DSC2	NM_024422.6(DSC2):c.882dup:p.Phe295fs	coding	Pathogenic
18	31087825	G	GT	A31087827T	DSC2	NM_024422.6(DSC2):c.631-13dup	noncoding	Benign/Likely_benign
18	31093653	GA	G	A31093661T	DSC2	NM_024422.6(DSC2):c.70-11del	noncoding	Benign/Likely_benign
18	31101936	TCC	T	C31101937G	DSC2	NM_024422.6(DSC2):c.34_35del:p.Gly12fs	coding	Pathogenic
18	31326909	A	AT	G31326911T	DSG1	NM_001942.4(DSG1):c.121dup:p.Trp41fs	coding	Pathogenic
18	31336426	T	TC	A31336428C	DSG1	NM_001942.4(DSG1):c.1079dup:p.Ile361fs	coding	Pathogenic
18	31339964	CA	C	A31339966T	DSG1	NM_001942.4(DSG1):c.1628del:p.Asn543fs	coding	Pathogenic
18	31343964	CG	C	G31343965C	DSG1	NM_001942.4(DSG1):c.1861del:p.Ala621fs	coding	Pathogenic
18	31386689	TG	T	G31386690A	DSG4	NM_177986.5(DSG4):c.87del:p.Lys30fs	coding	Pathogenic
18	31391155	CT	C	T31391156G	DSG4	NM_177986.5(DSG4):c.763del:p.Cys255fs	coding	Pathogenic
18	31409555	G	GT	C31409557T	DSG4	NM_177986.5(DSG4):c.2038dup:p.Ser680fs	coding	Pathogenic
18	31411347	G	GCCTCAGGGGCCGCAAGGAAGAGGAGCTCTACCATGGGAA	C31411389T	DSG4	NM_177986.5(DSG4):c.2257_2295dup:p.Ser753_Thr765dup	coding	Benign
18	31411386	A	ACCTCAGGGGCCGCAAGGAAGAGGAGCTCTACCATGGGAG	C31411389T	DSG4	NM_177986.5(DSG4):c.2295_2296insTCAGGGGCCGCAAGGAAGAGGAGCTCTACCATGGGAGCC:p.Leu766_Arg767insSerGlyAlaAlaArgLysArgSerSerThrMetGlyAla	coding	Benign
18	31521184	A	AT	C31521185T	DSG2	NM_001943.5(DSG2):c.464_465insT:p.Glu156fs	coding	Pathogenic
18	31521213	G	GT	G31521216T	DSG2	NM_001943.5(DSG2):c.495dup:p.Gly166fs	coding	Pathogenic
18	31521227	AGAGTT	A	T31521232G	DSG2	NM_001943.5(DSG2):c.512_516del:p.Leu171fs	coding	Pathogenic/Likely_pathogenic
18	31521252	CT	C	T31521267A	DSG2	NM_001943.5(DSG2):c.523+24del	noncoding	Benign
18	31521252	CTT	C	T31521266A	DSG2	NM_001943.5(DSG2):c.523+23_523+24del	noncoding	Benign
18	31522156	AATCGT	A	G31522160T	DSG2	NM_001943.5(DSG2):c.601_605del:p.Val201fs	coding	Pathogenic
18	31522179	ATCCTCC	A	T31522180A	DSG2	NM_001943.5(DSG2):c.621_626del:p.Tyr207_Pro209delinsTer	coding	Pathogenic
18	31524501	T	TA	C31524503A	DSG2	NM_001943.5(DSG2):c.745dup:p.Thr249fs	coding	Pathogenic
18	31524744	T	TA	C31524746A	DSG2	NM_001943.5(DSG2):c.871dup:p.Thr291fs	coding	Pathogenic
18	31538869	TTG	T	T31538872A	DSG2	NM_001943.5(DSG2):c.1771_1772TG[1]:p.Cys591_Glu592delinsTer	coding	Pathogenic
18	31542771	AG	A	G31542775C	DSG2	NM_001943.5(DSG2):c.2257del:p.Ala753fs	coding	Pathogenic
18	31545753	TCA	T	C31545758G	DSG2	NM_001943.5(DSG2):c.2368_2369CA[2]:p.Thr791fs	coding	Pathogenic
18	31545913	CA	C	A31545919T	DSG2	NM_001943.5(DSG2):c.2533del:p.Lys844_Ile845insTer	coding	Pathogenic/Likely_pathogenic
18	31546003	CA	C	A31546006C	DSG2	NM_001943.5(DSG2):c.2620del:p.Thr874fs	coding	Pathogenic
18	31546144	G	GTAGC	C31546151G	DSG2	NM_001943.5(DSG2):c.2761_2764dup:p.Thr922fs	coding	Pathogenic
18	31546307	TG	T	G31546309T	DSG2	NM_001943.5(DSG2):c.2923del:p.Leu974_Val975insTer	coding	Pathogenic/Likely_pathogenic
18	31546339	GT	G	T31546341G	DSG2	NM_001943.5(DSG2):c.2955del:p.Val986fs	coding	Pathogenic/Likely_pathogenic
18	31595128	G	GTGAGTC	G31595137A	TTR	NM_000371.3(TTR):c.212_217dup:p.Glu71_Ser72dup	coding	Pathogenic
18	31598546	ATCTG	A	G31598554T	TTR	NM_000371.3(TTR):c.337-14_337-11del	noncoding	Benign
18	31598651	TGTC	T	G31598655A	TTR	NM_000371.4(TTR):c.421GTC[1]:p.Val142del	coding	Pathogenic
18	31598677	GGACTTCTCC	G	G31598678T	TTR	NM_000371.3(TTR):c.*3_*11del	noncoding	Benign
18	32018888	AGCG	A	G32018891A	RNF125	NM_017831.4(RNF125):c.28_30del:p.Gly10del	coding	Benign
18	33734361	A	AAAAG	A33734369G	ASXL3	NM_030632.3(ASXL3):c.1032_1035dup:p.Thr346fs	coding	Pathogenic
18	33738498	CAA	C	A33738499G	ASXL3	NM_030632.3(ASXL3):c.1095_1096del:p.Glu367fs	coding	Pathogenic
18	33738591	CACAG	C	A33738596C	ASXL3	NM_030632.3(ASXL3):c.1188_1191ACAG[1]:p.Thr398fs	coding	Pathogenic
18	33738610	ACAACAG	TCACAT	A33738610T	ASXL3	NM_030632.3(ASXL3):c.1206_1212delinsTCACAT:p.Glu402fs	coding	Pathogenic
18	33738749	GT	G	T33738750A	ASXL3	NM_030632.3(ASXL3):c.1346del:p.Val449fs	coding	Pathogenic
18	33738756	AG	A	G33738758A	ASXL3	NM_030632.3(ASXL3):c.1354del:p.Glu452fs	coding	Pathogenic
18	33738790	CTG	C	T33738793A	ASXL3	NM_030632.3(ASXL3):c.1389_1390del:p.Cys463_Glu464delinsTer	coding	Pathogenic
18	33738825	C	CT	G33738827T	ASXL3	NM_030632.3(ASXL3):c.1422dup:p.Glu475Ter	coding	Pathogenic
18	33738851	C	CT	A33738853T	ASXL3	NM_030632.3(ASXL3):c.1448dup:p.Thr484fs	coding	Pathogenic
18	33738881	GCA	G	A33738883C	ASXL3	NM_030632.3(ASXL3):c.1479_1480del:p.Pro494fs	coding	Pathogenic
18	33738883	A	ATGCT	C33738884T	ASXL3	NM_030632.3(ASXL3):c.1479_1480insTGCT:p.Pro494fs	coding	Pathogenic
18	33738886	TC	T	C33738888T	ASXL3	NM_030632.3(ASXL3):c.1484del:p.Pro495fs	coding	Pathogenic
18	33738898	C	CT	G33738901T	ASXL3	NM_030632.3(ASXL3):c.1496dup:p.Leu499fs	coding	Pathogenic
18	33738902	GA	G	A33738904T	ASXL3	NM_030632.3(ASXL3):c.1500del:p.Glu500fs	coding	Pathogenic
18	33738936	CTT	C	T33738938G	ASXL3	NM_030632.3(ASXL3):c.1534_1535del:p.Leu512fs	coding	Pathogenic
18	33738979	AC	A	C33738983A	ASXL3	NM_030632.3(ASXL3):c.1579del:p.Gln527fs	coding	Pathogenic
18	33739026	ACT	A	C33739031T	ASXL3	NM_030632.3(ASXL3):c.1623_1624CT[2]:p.Leu543fs	coding	Pathogenic
18	33739098	TAG	T	G33739102C	ASXL3	NM_030632.3(ASXL3):c.1696_1697GA[1]:p.Glu566fs	coding	Pathogenic
18	33739205	C	CA	G33739207A	ASXL3	NM_030632.3(ASXL3):c.1802dup:p.Leu602fs	coding	Pathogenic
18	33739224	GC	G	C33739225A	ASXL3	NM_030632.3(ASXL3):c.1821del:p.Ala606_Cys607insTer	coding	Pathogenic
18	33739249	TGA	T	A33739253C	ASXL3	NM_030632.3(ASXL3):c.1847_1848AG[1]:p.Ser617fs	coding	Pathogenic
18	33739287	CAG	C	A33739288G	ASXL3	NM_030632.3(ASXL3):c.1884_1885del:p.Gly629fs	coding	Pathogenic
18	33739342	G	GA	C33739344A	ASXL3	NM_030632.3(ASXL3):c.1939dup:p.Thr647fs	coding	Pathogenic
18	33739364	T	TC	T33739366C	ASXL3	NM_030632.3(ASXL3):c.1961dup:p.Ser654_Ser655insTer	coding	Pathogenic
18	33739378	TACAG	T	G33739382A	ASXL3	NM_030632.3(ASXL3):c.1978_1981del:p.Asp660fs	coding	Pathogenic
18	33740021	G	GA	G33740030A	ASXL3	NM_030632.3(ASXL3):c.2625dup:p.Val876fs	coding	Pathogenic
18	33743160	GCAGA	G	G33743163A	ASXL3	NM_030632.3(ASXL3):c.3315_3318del:p.Thr1106fs	coding	Pathogenic
18	33743172	TAA	T	A33743173G	ASXL3	NM_030632.3(ASXL3):c.3325_3326del:p.Lys1109fs	coding	Pathogenic
18	33743176	C	CTCTT	G33743182C	ASXL3	NM_030632.3(ASXL3):c.3330_3333dup:p.Ala1112fs	coding	Pathogenic
18	33743178	CTT	C	T33743180G	ASXL3	NM_030632.3(ASXL3):c.3332_3333del:p.Phe1111fs	coding	Pathogenic
18	33743340	CTG	C	G33743342A	ASXL3	NM_030632.3(ASXL3):c.3494_3495del:p.Asn1164_Cys1165insTer	coding	Pathogenic
18	33743468	T	TA	C33743470A	ASXL3	NM_030632.3(ASXL3):c.3621dup:p.Pro1208fs	coding	Pathogenic
18	33743672	C	CTGCT	T33743679C	ASXL3	NM_030632.3(ASXL3):c.3827_3830dup:p.Asn1278fs	coding	Pathogenic
18	33743867	CTG	C	T33743870C	ASXL3	NM_030632.3(ASXL3):c.4020_4021TG[1]:p.Val1341fs	coding	Pathogenic
18	33743935	AT	G	A33743935G	ASXL3	NM_030632.3(ASXL3):c.4087_4088delinsG:p.Met1363fs	coding	Pathogenic
18	33743999	CTG	C	G33744001A	ASXL3	NM_030632.3(ASXL3):c.4153_4154del:p.Val1385fs	coding	Pathogenic
18	33744011	G	GT	A33744013T	ASXL3	NM_030632.3(ASXL3):c.4164dup:p.Thr1389fs	coding	Pathogenic
18	33744056	TCA	T	C33744059G	ASXL3	NM_030632.3(ASXL3):c.4209_4210CA[1]:p.Thr1404fs	coding	Pathogenic
18	33744062	ACT	A	C33744067G	ASXL3	NM_030632.3(ASXL3):c.4215_4216CT[2]:p.Leu1407fs	coding	Pathogenic/Likely_pathogenic
18	33744101	G	GAAAC	T33744107A	ASXL3	NM_030632.3(ASXL3):c.4255_4258dup:p.Met1420fs	coding	Pathogenic
18	33744306	TCTGA	T	A33744310T	ASXL3	NM_030632.3(ASXL3):c.4462_4465del:p.Thr1488fs	coding	Pathogenic/Likely_pathogenic
18	33744353	G	GCAGAC	T33744362A	ASXL3	NM_030632.3(ASXL3):c.4509_4513dup:p.Val1505fs	coding	Pathogenic
18	33744751	G	GA	G33744753A	ASXL3	NM_030632.3(ASXL3):c.4904dup:p.Gln1636fs	coding	Pathogenic
18	33745329	CA	C	A33745334G	ASXL3	NM_030632.3(ASXL3):c.5486del:p.Lys1829fs	coding	Pathogenic
18	34820945	AC	A	C34820946A	DTNA	NM_001390.4(DTNA):c.1001+31del	noncoding	Benign
18	34868154	CA	C	A34868170G	DTNA	NM_001390.4(DTNA):c.1662+4108del	coding	Benign
18	35369475	G	GT	C35369482T	ZNF396	NM_001322286.2(ZNF396):c.747dup:p.Gln250fs	coding	Benign
18	36205092	T	TA	G36205096A	MOCOS	NM_017947.4(MOCOS):c.1037dup:p.Gln347fs	coding	Pathogenic
18	42004549	ATTAT	A	T42004555A	PIK3C3	NM_002647.4(PIK3C3):c.1170+14_1170+17del	noncoding	Benign
18	42923770	GA	G	A42923785T	RIT2	NM_002930.4(RIT2):c.235-8del	noncoding	Benign
18	44701385	A	AG	C44701391G	SETBP1	NM_015559.3(SETBP1):c.44dup:p.Glu16fs	coding	Pathogenic
18	44701770	TC	T	C44701773G	SETBP1	NM_015559.3(SETBP1):c.427del:p.Arg143fs	coding	Pathogenic
18	44876705	C	CTCTT	A44876706T	SETBP1	NM_015559.3(SETBP1):c.540+7422_540+7423insTCTT	coding	Benign
18	44950421	G	GCA	T44950424C	SETBP1	NM_015559.3(SETBP1):c.1082_1083dup:p.Phe362fs	coding	Pathogenic
18	44950744	TA	T	A44950748T	SETBP1	NM_015559.3(SETBP1):c.1408del:p.Lys469_Met470insTer	coding	Pathogenic
18	44950907	CA	C	A44950908T	SETBP1	NM_015559.3(SETBP1):c.1568del:p.His523fs	coding	Pathogenic
18	44951000	CT	C	T44951001G	SETBP1	NM_015559.3(SETBP1):c.1661del:p.Leu554fs	coding	Pathogenic
18	44951011	GC	G	C44951016G	SETBP1	NM_015559.3(SETBP1):c.1676del:p.Pro559fs	coding	Pathogenic
18	44951159	AC	A	C44951161A	SETBP1	NM_015559.3(SETBP1):c.1821del:p.Ser608fs	coding	Pathogenic
18	44951163	G	GC	G44951168C	SETBP1	NM_015559.3(SETBP1):c.1827dup:p.Val610fs	coding	Pathogenic
18	44951356	C	CT	A44951357T	SETBP1	NM_015559.3(SETBP1):c.2016_2017insT:p.Lys673Ter	coding	Pathogenic
18	44951601	GCCAGCCGGATGTT	G	G44951609T	SETBP1	NM_015559.3(SETBP1):c.2269_2281del:p.Asp757fs	coding	Pathogenic
18	44951746	GA	T	G44951746T	SETBP1	NM_015559.3(SETBP1):c.2406_2407delinsT:p.Leu802fs	coding	Pathogenic
18	44951802	GA	G	A44951804T	SETBP1	NM_015559.3(SETBP1):c.2464del:p.Ile822fs	coding	Pathogenic
18	44952010	GA	G	A44952011G	SETBP1	NM_015559.3(SETBP1):c.2671del:p.Arg891fs	coding	Pathogenic
18	45068440	TA	T	A45068451G	SETBP1	NM_015559.3(SETBP1):c.*4753del	noncoding	Benign
18	45865765	CAAA	C	A45865780T	EPG5	NM_020964.3(EPG5):c.6622-9_6622-7del	noncoding	Benign
18	45865765	CAA	C	A45865781T	EPG5	NM_020964.3(EPG5):c.6622-8_6622-7del	noncoding	Benign
18	45865765	CA	C	A45865782T	EPG5	NM_020964.3(EPG5):c.6622-7del	noncoding	Benign
18	45865765	C	CA	T45865783A	EPG5	NM_020964.3(EPG5):c.6622-23dup	noncoding	Benign
18	45866810	G	GCTGA	T45866814A	EPG5	NM_020964.3(EPG5):c.6608_6609insTCAG:p.Lys2205fs	coding	Pathogenic
18	45866841	AC	A	C45866842T	EPG5	NM_020964.3(EPG5):c.6577del:p.Val2193fs	coding	Pathogenic
18	45867617	GCAGA	G	G45867620A	EPG5	NM_020964.3(EPG5):c.6353_6356del:p.Val2118fs	coding	Pathogenic
18	45880081	GTC	G	C45880083G	EPG5	NM_020964.3(EPG5):c.5659_5660del:p.Asp1887fs	coding	Pathogenic
18	45882413	G	GTGAA	G45882420A	EPG5	NM_020964.3(EPG5):c.5375_5378dup:p.Leu1794fs	coding	Pathogenic
18	45899472	TG	T	G45899474T	EPG5	NM_020964.3(EPG5):c.4740del:p.Thr1581fs	coding	Pathogenic
18	45908000	AT	A	T45908001G	EPG5	NM_020964.3(EPG5):c.4286del:p.His1429fs	coding	Pathogenic
18	45913732	C	CAGAGTTTATCACCAATTCCCCTTCAATA	C45913762G	EPG5	NM_020964.3(EPG5):c.3762_3789dup:p.Ala1264delinsTyrTer	coding	Pathogenic
18	45915589	CA	C	A45915590G	EPG5	NM_020964.3(EPG5):c.3614del:p.Leu1205fs	coding	Pathogenic
18	45930734	G	GC	T45930737C	EPG5	NM_020964.3(EPG5):c.2353dup:p.Ala785fs	coding	Pathogenic
18	45939632	CA	C	A45939637C	EPG5	NM_020964.3(EPG5):c.2066del:p.Phe688_Leu689insTer	coding	Pathogenic
18	45949542	AGAAG	A	G45949547A	EPG5	NM_020964.3(EPG5):c.1431_1434CTTC[1]:p.Phe478_Leu479insTer	coding	Pathogenic
18	45951236	AC	A	C45951237G	EPG5	NM_020964.3(EPG5):c.1254del:p.Ser419fs	coding	Pathogenic
18	45952633	GCA	G	C45952636G	EPG5	NM_020964.3(EPG5):c.1017_1018del:p.Ala340fs	coding	Pathogenic
18	45952651	A	AGG	A45952654G	EPG5	NM_020964.3(EPG5):c.1009-10_1009-9dup	noncoding	Benign
18	45955090	C	CTT	G45955094T	EPG5	NM_020964.3(EPG5):c.310_311dup:p.Glu105fs	coding	Pathogenic
18	46477889	GA	G	A46477891T	LOXHD1	NM_001384474.1(LOXHD1):c.6404del:p.Phe2135fs	coding	Pathogenic
18	46483755	AC	A	C46483756A	LOXHD1	NM_144612.6(LOXHD1):c.5997-11del	noncoding	Benign/Likely_benign
18	46485120	T	TC	G46485123C	LOXHD1	NM_144612.6(LOXHD1):c.5894dup:p.Gly1966fs	coding	Pathogenic
18	46485126	GC	G	C46485129G	LOXHD1	NM_001384474.1(LOXHD1):c.6074del:p.Gly2025fs	coding	Pathogenic
18	46505875	GC	G	C46505878A	LOXHD1	NM_144612.7(LOXHD1):c.5654del:p.Gly1885fs	coding	Pathogenic
18	46522162	CG	C	G46522164C	LOXHD1	NM_001384474.1(LOXHD1):c.5023del:p.Arg1675fs	coding	Pathogenic
18	46522264	GC	G	C46522265G	LOXHD1	NM_144612.6(LOXHD1):c.4921del:p.Ala1641fs	coding	Pathogenic
18	46524764	G	GC	G46524768C	LOXHD1	NM_144612.6(LOXHD1):c.4683dup:p.Arg1562fs	coding	Pathogenic
18	46529293	GA	G	A46529295T	LOXHD1	NM_001384474.1(LOXHD1):c.4413del:p.Pro1472fs	coding	Pathogenic
18	46560316	CTCT	C	T46560328C	LOXHD1	NM_144612.6(LOXHD1):c.2825_2827del	coding	Benign/Likely_benign
18	46560476	TG	T	G46560479C	LOXHD1	NM_001384474.1(LOXHD1):c.2667del:p.Ser890fs	coding	Pathogenic
18	46566390	GC	G	C46566393A	LOXHD1	NM_144612.6(LOXHD1):c.2303del:p.Gly768fs	coding	Pathogenic
18	46569633	GA	G	A46569636G	LOXHD1	NM_001384474.1(LOXHD1):c.2052del:p.Arg685fs	coding	Pathogenic
18	46592048	CAG	C	A46592051T	LOXHD1	NM_144612.6(LOXHD1):c.1535_1536CT[1]:p.Leu513fs	coding	Pathogenic
18	46601277	CAG	C	A46601278G	LOXHD1	NM_144612.7(LOXHD1):c.1072_1073del:p.Leu358fs	coding	Pathogenic
18	46601462	TA	T	A46601464T	LOXHD1	NM_144612.7(LOXHD1):c.888del:p.Thr297fs	coding	Pathogenic
18	46610800	G	GC	T46610807C	LOXHD1	NM_144612.6(LOXHD1):c.734dup:p.Ser246fs	coding	Pathogenic
18	46618325	CA	C	A46618326G	LOXHD1	NM_144612.6(LOXHD1):c.512-36del	noncoding	Benign
18	46649167	TG	T	G46649169A	LOXHD1	NM_001384474.1(LOXHD1):c.232del:p.Gln78fs	coding	Pathogenic
18	47851284	A	AT	A47851287T	SMAD2	NM_005901.6(SMAD2):c.773dup:p.Asn258fs	coding	Pathogenic
18	47868428	T	TGG	T47868430G	SMAD2	NM_005901.6(SMAD2):c.549_550insCC:p.Thr184fs	coding	Pathogenic
18	49044122	TAGACA	T	C49044126G	DYM;LOC100129878	NM_001353214.3(DYM):c.2103_2107del:p.Val702fs	coding	Pathogenic
18	49044186	AT	A	T49044189C	DYM	NM_017653.5(DYM):c.1878del:p.Lys626fs	coding	Pathogenic
18	49331863	CT	C	T49331865G	DYM	NM_017653.5(DYM):c.763del:p.Thr255fs	coding	Pathogenic
18	49430272	GA	G	A49430275G	DYM	NM_017653.5(DYM):c.122del:p.Phe41fs	coding	Pathogenic
18	49430299	G	GA	C49430302A	DYM	NM_001353214.3(DYM):c.95dup:p.Trp33fs	coding	Pathogenic
18	49825414	TA	T	A49825426C	MYO5B	NM_001080467.3(MYO5B):c.*1056del	noncoding	Benign
18	49826361	CT	C	T49826362G	MYO5B	NM_001080467.3(MYO5B):c.*109del	noncoding	Benign
18	49879055	T	TGAG	A49879059G	MYO5B	NM_001080467.3(MYO5B):c.3163_3165dup:p.Leu1055dup	coding	Benign
18	49929610	GAA	G	A49929625G	MYO5B	NM_001080467.3(MYO5B):c.2004-14_2004-13del	noncoding	Benign
18	49929610	GA	G	A49929626G	MYO5B	NM_001080467.3(MYO5B):c.2004-13del	noncoding	Benign
18	51047114	TG	T	G51047115A	SMAD4	NM_005359.6(SMAD4):c.69del:p.Met24fs	coding	Pathogenic
18	51047193	GA	G	A51047199G	SMAD4	NM_005359.6(SMAD4):c.153del:p.Asp52fs	coding	Pathogenic
18	51047193	G	GA	G51047200A	SMAD4	NM_005359.6(SMAD4):c.153dup:p.Asp52fs	coding	Pathogenic
18	51047262	T	TA	C51047264A	SMAD4	NM_005359.6(SMAD4):c.217dup:p.Thr73fs	coding	Pathogenic
18	51047594	TG	T	G51047595T	SMAD4	NM_005359.6(SMAD4):c.249+300del	noncoding	Benign
18	51048695	CGGAAA	C	A51048699T	SMAD4	NM_005359.5(SMAD4):c.263_267delAAGGA:p.Lys88Ilefs	coding	Pathogenic
18	51048710	CAT	C	A51048711G	SMAD4	NM_005359.6(SMAD4):c.275_276del:p.His92fs	coding	Pathogenic
18	51048752	A	AAAAATGAACT	C51048767T	SMAD4	NM_005359.6(SMAD4):c.321_330dup:p.His111Ter	coding	Pathogenic
18	51048762	T	AAATATGAAC	T51048762A	SMAD4	NM_005359.6(SMAD4):c.326delinsAAATATGAAC:p.Leu109delinsGlnIleTer	coding	Pathogenic
18	51048809	A	AAT	G51048810A	SMAD4	NM_005359.6(SMAD4):c.373_374insAT:p.Ser125fs	coding	Pathogenic
18	51048810	G	GTGTCTGT	G51048818T	SMAD4	NM_005359.6(SMAD4):c.375_381dup:p.Val128fs	coding	Pathogenic
18	51048850	ACC	A	C51048851T	SMAD4	NM_005359.6(SMAD4):c.415_416del:p.Pro139fs	coding	Pathogenic
18	51049295	ATC	A	T51049300A	SMAD4	NM_005359.6(SMAD4):c.426_427TC[2]:p.Ser144fs	coding	Pathogenic
18	51049312	CT	C	T51049313G	SMAD4	NM_005359.6(SMAD4):c.443del:p.Leu148fs	coding	Pathogenic
18	51054821	CT	C	T51054824G	SMAD4	NM_005359.6(SMAD4):c.498del:p.Phe166fs	coding	Pathogenic
18	51054841	TGTCCACTGAAGG	T	G51054842A	SMAD4	NM_005359.6(SMAD4):c.516_527del:p.Ser173_Gly176del	coding	Pathogenic
18	51054930	GC	G	C51054934A	SMAD4	NM_005359.6(SMAD4):c.608del:p.Pro203fs	coding	Pathogenic
18	51058123	AGGTCAGCCTGCCAGTATACTGGG	A	T51058126G	SMAD4	NM_005359.5(SMAD4):c.669_691delTCAGCCTGCCAGTATACTGGGGG:p.Ser223Argfs	noncoding	Pathogenic
18	51058143	T	TG	C51058150G	SMAD4	NM_005359.6(SMAD4):c.692dup:p.Ser232fs	coding	Pathogenic
18	51058180	ATCAGGGCC	A	G51058185C	SMAD4	NM_005359.6(SMAD4):c.728_735del:p.Gly243fs	coding	Pathogenic
18	51058186	G	GCCGC	T51058189G	SMAD4	NM_005359.5(SMAD4):c.731_732insGCCC(p.Gln245Profs	coding	Pathogenic
18	51058207	GA	G	A51058209T	SMAD4	NM_005359.5(SMAD4):c.752delA:p.Asn251Metfs	coding	Pathogenic
18	51058378	TAC	T	A51058383C	SMAD4	NM_005359.5(SMAD4):c.831_832delAC:p.Pro278Terfs	coding	Pathogenic
18	51058434	GCCGCCCCATC	G	C51058438G	SMAD4	NM_005359.6(SMAD4):c.886_895del:p.Pro296fs	coding	Pathogenic
18	51058449	A	ACATTACTG	T51058458C	SMAD4	NM_005359.6(SMAD4):c.898_904+1dup	coding	Pathogenic
18	51058454	AC	A	C51058455T	SMAD4	NM_005359.6(SMAD4):c.903del:p.Trp302fs	coding	Pathogenic
18	51058485	A	AT	G51058502T	SMAD4	NM_005359.6(SMAD4):c.904+45dup	noncoding	Benign
18	51058485	AT	A	T51058501G	SMAD4	NM_005359.6(SMAD4):c.904+45del	noncoding	Benign
18	51059884	T	TTGCA	T51059890G	SMAD4	NM_005359.6(SMAD4):c.925_928dup:p.Phe310fs	coding	Pathogenic
18	51059897	T	TC	A51059901C	SMAD4	NM_005359.6(SMAD4):c.939dup:p.Ile314fs	coding	Pathogenic
18	51065437	TG	T	G51065438T	SMAD4	NM_005359.6(SMAD4):c.971del:p.Cys324fs	coding	Pathogenic
18	51065447	C	CT	A51065450T	SMAD4	NM_005359.6(SMAD4):c.982dup:p.Tyr328fs	coding	Pathogenic
18	51065488	GT	G	T51065490C	SMAD4	NM_005359.6(SMAD4):c.1023del:p.Pro342fs	coding	Pathogenic
18	51065501	GC	G	C51065504T	SMAD4	NM_005359.6(SMAD4):c.1037del:p.Pro346fs	coding	Pathogenic
18	51065507	TTG	T	G51065509T	SMAD4	NM_005359.6(SMAD4):c.1042_1043del:p.Val348fs	coding	Pathogenic
18	51065511	T	TA	C51065513A	SMAD4	NM_005359.6(SMAD4):c.1045dup:p.Thr349fs	coding	Pathogenic
18	51065531	A	AC	T51065535C	SMAD4	NM_005359.6(SMAD4):c.1067dup:p.Ser357fs	coding	Pathogenic
18	51065531	AC	A	C51065534T	SMAD4	NM_005359.6(SMAD4):c.1067del:p.Pro356fs	coding	Pathogenic
18	51065552	TTTG	T	G51065555T	SMAD4	NM_005359.6(SMAD4):c.1088_1090del:p.Cys363del	coding	Pathogenic
18	51065565	ACT	A	T51065569C	SMAD4	NM_005359.5(SMAD4):c.1102_1103delTC:p.Ser368Glnfs	coding	Pathogenic
18	51065579	AC	A	C51065580A	SMAD4	NM_005359.6(SMAD4):c.1113del:p.His371fs	coding	Pathogenic
18	51065595	TGA	T	A51065601C	SMAD4	NM_005359.5(SMAD4):c.1134_1135delAG:p.Arg378Serfs	coding	Pathogenic
18	51065603	CA	C	A51065605G	SMAD4	NM_005359.6(SMAD4):c.1138del:p.Arg380fs	coding	Pathogenic
18	51065876	GA	G	A51065880T	SMAD4	NM_005359.6(SMAD4):c.1139+274del	noncoding	Pathogenic
18	51067044	TTG	T	T51067045G	SMAD4	NM_005359.6(SMAD4):c.1166_1167del:p.Gln388_Leu389insTer	coding	Pathogenic
18	51067076	CA	C	A51067077G	SMAD4	NM_005359.6(SMAD4):c.1198del:p.Arg400fs	coding	Pathogenic
18	51067079	G	GT	G51067081T	SMAD4	NM_005359.6(SMAD4):c.1201dup:p.Cys401fs	coding	Pathogenic
18	51067083	C	CT	A51067086T	SMAD4	NM_005359.6(SMAD4):c.1206dup:p.Ser403Ter	coding	Pathogenic
18	51067105	TAC	T	C51067107G	SMAD4	NM_005359.6(SMAD4):c.1228_1229del:p.Gln410fs	coding	Pathogenic
18	51067107	CAG	C	A51067110T	SMAD4	NM_005359.6(SMAD4):c.1229_1230AG[1]:p.Ser411fs	coding	Pathogenic
18	51067117	ACTT	A	C51067118A	SMAD4	NM_005359.6(SMAD4):c.1239_1241del:p.Tyr413_Leu414delinsTer	coding	Pathogenic
18	51067120	TAGAC	T	C51067124G	SMAD4	NM_005359.5(SMAD4):c.1245_1248delCAGA:p.Asp415Glufs	coding	Pathogenic
18	51067120	TA	T	A51067121G	SMAD4	NM_005359.6(SMAD4):c.1242del:p.Asp415fs	coding	Pathogenic
18	51067120	T	TA	G51067122A	SMAD4	NM_005359.6(SMAD4):c.1242dup:p.Asp415fs	coding	Pathogenic
18	51067124	CAG	C	G51067128A	SMAD4	NM_005359.5:c.1249_1250delGA	coding	Pathogenic
18	51067135	G	GGC	T51067139C	SMAD4	NM_005359.6(SMAD4):c.1258_1259dup:p.Ala421fs	coding	Pathogenic
18	51067145	TG	T	G51067147A	SMAD4	NM_005359.6(SMAD4):c.1268del:p.Gly423fs	coding	Pathogenic
18	51067149	G	GA	T51067151A	SMAD4	NM_005359.6(SMAD4):c.1271dup:p.Asp424fs	coding	Pathogenic/Likely_pathogenic
18	51067177	C	CAT	A51067185T	SMAD4	NM_005359.6(SMAD4):c.1300_1301TA[4]:p.Lys436Ter	coding	Pathogenic
18	51076639	TC	T	C51076640T	SMAD4	NM_005359.6(SMAD4):c.1311del:p.Phe438fs	coding	Pathogenic
18	51076665	CAG	C	G51076667T	SMAD4	NM_005359.6(SMAD4):c.1338_1339del:p.Gln446fs	coding	Pathogenic
18	51076668	ATGCAGCAGCAGGCGGCTACTGCACAAGC	A	A51076678T	SMAD4	NM_005359.6(SMAD4):c.1349_1376del:p.Gln450fs	coding	Pathogenic
18	51076669	TGCAGCAGCAGGCGGCTACTGCACAA	T	A51076672T	SMAD4	NM_005359.6(SMAD4):c.1343_1367del:p.Gln448fs	coding	Pathogenic
18	51076671	CAGCAGCAGGCGGCTACTGCACAA	C	A51076672G	SMAD4	NM_005359.6(SMAD4):c.1343_1365del:p.Gln448fs	coding	Pathogenic
18	51076672	AGCAGCAGGCGGCTACTGCACAAGCT	A	G51076680C	SMAD4	NM_005359.5(SMAD4):c.1351_1375del25:p.Ala451Leufs	coding	Pathogenic
18	51076682	G	GGCTACTGCACAAGCTGCAGCAGCTGCCC	A51076711G	SMAD4	NM_005359.6(SMAD4):c.1354_1381dup:p.Gln461fs	coding	Pathogenic
18	51076689	GCACA	G	C51076690A	SMAD4	NM_005359.6(SMAD4):c.1361_1364del:p.Ala454fs	coding	Pathogenic
18	51076734	A	ATCCC	G51076740C	SMAD4	NM_005359.6(SMAD4):c.1407_1410dup:p.Gly471fs	coding	Pathogenic
18	51076735	TC	T	C51076738T	SMAD4	NM_005359.6(SMAD4):c.1409del:p.Pro470fs	coding	Pathogenic
18	51076738	C	CCCCT	T51076739C	SMAD4	NM_005359.6(SMAD4):c.1409_1410insCCCT:p.Gly471fs	coding	Pathogenic
18	51076739	TGGCCCAGGATCAGTAGGTGGAATAG	T	G51076740C	SMAD4	NM_005359.6(SMAD4):c.1411_1435del:p.Gly471fs	coding	Pathogenic
18	51076745	AG	A	G51076747A	SMAD4	NM_005359.6(SMAD4):c.1418del:p.Gly473fs	coding	Pathogenic
18	51076749	TC	T	C51076750A	SMAD4	NM_005359.6(SMAD4):c.1421del:p.Gly473_Ser474insTer	coding	Pathogenic
18	51078333	TG	T	G51078337A	SMAD4	NM_005359.6(SMAD4):c.1529del:p.Gly510fs	coding	Pathogenic
18	51078351	AG	A	G51078352A	SMAD4	NM_005359.6(SMAD4):c.1544del:p.Arg515fs	coding	Pathogenic
18	51078354	CAG	C	A51078357C	SMAD4	NM_005359.5(SMAD4):c.1549_1550delAG:p.Ser517Hisfs	coding	Pathogenic/Likely_pathogenic
18	51078354	C	CA	G51078356A	SMAD4	NM_005359.6(SMAD4):c.1547dup:p.Ser517fs	coding	Pathogenic
18	51078354	C	CAGAG	C51078359A	SMAD4	NM_005359.5(SMAD4):c.1547_1550dupAGAG:p.Ser517Argfs	coding	Pathogenic
18	51078371	ACC	A	C51078372T	SMAD4	NM_005359.6(SMAD4):c.1564_1565del:p.Pro522fs	coding	Pathogenic
18	51078392	C	CTT	A51078395T	SMAD4	NM_005359.6(SMAD4):c.1585_1586dup:p.Leu529fs	coding	Pathogenic
18	51078393	T	TTA	C51078396T	SMAD4	NM_005359.6(SMAD4):c.1586_1587dup:p.His530fs	coding	Pathogenic
18	51078394	T	TA	C51078396A	SMAD4	NM_005359.6(SMAD4):c.1587dup:p.His530fs	coding	Pathogenic
18	51078395	AC	A	C51078396A	SMAD4	NM_005359.6(SMAD4):c.1588del:p.His530fs	coding	Pathogenic
18	51078399	CG	C	G51078402C	SMAD4	NM_005359.6(SMAD4):c.1594del:p.Ala532fs	coding	Pathogenic
18	51078402	GC	G	C51078405T	SMAD4	NM_005359.6(SMAD4):c.1597del:p.Leu533fs	coding	Pathogenic
18	51078404	CC	T	C51078404T	SMAD4	NM_005359.6(SMAD4):c.1596_1597delinsT:p.Leu533fs	coding	Pathogenic
18	51078414	C	CT	A51078416T	SMAD4	NM_005359.6(SMAD4):c.1607dup:p.Asp537fs	coding	Pathogenic
18	51078417	GACGAAGTACTTCAT	G	G51078420C	SMAD4	NM_005359.6(SMAD4):c.1612_1625del:p.Glu538fs	coding	Pathogenic
18	51084096	GCACA	G	A51084104G	SMAD4	NM_005359.5(SMAD4):c.*5637_*5640delACAC	noncoding	Benign
18	51084155	CATT	C	T51084158A	SMAD4	NM_005359.6(SMAD4):c.*5691_*5693del	noncoding	Benign
18	51084327	CAAGAA	C	G51084330C	SMAD4	NM_005359.6(SMAD4):c.*5863_*5867del	noncoding	Benign
18	51196775	CGCCGCCGCG	C	G51196784C	MEX3C	NM_016626.5(MEX3C):c.537_545del:p.Ala182_Ala184del	coding	Benign
18	52906200	T	TG	T52906203G	DCC	NM_005215.4(DCC):c.571dup:p.Val191fs	coding	Pathogenic
18	52923795	TGTTTCTG	T	T52923797C	DCC	NM_005215.4(DCC):c.788_794del:p.Val263fs	coding	Pathogenic
18	52925309	TA	T	A52925310C	DCC	NM_005215.4(DCC):c.925del:p.Thr309fs	coding	Pathogenic
18	53157428	T	TCCAG	G53157431A	DCC	NM_005215.4(DCC):c.1336_1337insAGCC:p.Arg446fs	coding	Pathogenic
18	53322126	T	TAC	T53322129A	DCC	NM_005215.4(DCC):c.2134_2135dup:p.Ala713fs	coding	Pathogenic
18	53339916	CTG	C	T53339919A	DCC	NM_005215.4(DCC):c.2359+12_2359+13del	noncoding	Benign
18	53402823	T	TAGGGA	C53402836G	DCC	NM_005215.4(DCC):c.2868_2872GGAAG[3]:p.Pro960fs	coding	Pathogenic
18	53486892	ACT	A	T53486896C	DCC	NM_005215.4(DCC):c.3834_3835TC[1]:p.Leu1279fs	coding	Pathogenic
18	55222481	G	GA	T55222495A	TCF4	NM_001083962.2(TCF4):c.*5553dup	noncoding	Benign
18	55223681	CTT	C	T55223695G	TCF4	NM_001083962.2(TCF4):c.*4352_*4353del	noncoding	Benign
18	55223715	T	TTC	T55223717C	TCF4	NM_001083962.2(TCF4):c.*4319_*4320insGA	noncoding	Benign
18	55224052	GT	G	T55224064C	TCF4	NM_001083962.2(TCF4):c.*3982del	noncoding	Benign
18	55224616	C	CA	T55224618A	TCF4	NM_001083962.2(TCF4):c.*3418dup	noncoding	Benign
18	55226024	T	TA	C55226034A	TCF4	NM_001083962.2(TCF4):c.*2010dup	noncoding	Benign
18	55226273	AT	A	T55226284C	TCF4	NM_001083962.2(TCF4):c.*1761del	noncoding	Benign
18	55226695	G	GA	T55226706A	TCF4	NM_001083962.2(TCF4):c.*1339dup	noncoding	Benign
18	55227248	C	CAA	T55227262A	TCF4	NM_001083962.2(TCF4):c.*785_*786dup	noncoding	Benign
18	55228271	G	GGGCC	A55228280G	TCF4	NM_001083962.2(TCF4):c.1962_1965GGCC[3]:p.Pro657fs	coding	Pathogenic
18	55228275	C	CG	C55228278G	TCF4	NM_001083962.2(TCF4):c.1965dup:p.Gly656fs	coding	Pathogenic/Likely_pathogenic
18	55228282	GGA	G	A55228288G	TCF4	NM_001083962.2(TCF4):c.1953_1954TC[2]:p.Ser653fs	coding	Pathogenic
18	55228341	C	CT	C55228345T	TCF4	NM_001083962.2(TCF4):c.1899dup:p.Ala634fs	coding	Pathogenic
18	55228891	TG	T	G55228893A	TCF4	NM_001083962.2(TCF4):c.1834del:p.His612fs	coding	Pathogenic
18	55228948	CG	C	G55228950C	TCF4	NM_001083962.2(TCF4):c.1777del:p.Arg593fs	coding	Pathogenic
18	55229003	C	CATTG	T55229008A	TCF4	NM_001083962.2(TCF4):c.1719_1722dup:p.Ala575fs	coding	Pathogenic
18	55229014	AT	A	T55229015C	TCF4	NM_001083962.2(TCF4):c.1711del:p.Met571fs	coding	Pathogenic
18	55229044	TG	T	G55229045C	TCF4	NM_001083962.2(TCF4):c.1681del:p.Gln561fs	coding	Pathogenic
18	55232600	CA	C	A55232601C	TCF4	NM_001083962.2(TCF4):c.1557del:p.Asp520fs	coding	Pathogenic
18	55232630	TG	T	G55232631C	TCF4	NM_001083962.2(TCF4):c.1527del:p.Ser510fs	coding	Pathogenic
18	55232639	AGACACTCTGCCCCT	A	A55232641T	TCF4	NM_001083962.2(TCF4):c.1505_1518del:p.Gln502fs	coding	Pathogenic
18	55232653	TG	T	G55232654T	TCF4	NM_001083962.2(TCF4):c.1504del:p.Gln502fs	coding	Pathogenic
18	55234552	G	GTT	A55234554T	TCF4	NM_001083962.2(TCF4):c.1481_1482insAA:p.Tyr494Ter	coding	Pathogenic
18	55234571	T	TTCAG	G55234576T	TCF4	NM_001083962.2(TCF4):c.1459_1462dup:p.Asn488fs	coding	Pathogenic
18	55234619	AC	A	C55234621T	TCF4	NM_001083962.2(TCF4):c.1414del:p.Val472fs	coding	Pathogenic
18	55234676	G	GT	C55234678T	TCF4	NM_001083962.2(TCF4):c.1357dup:p.Thr453fs	coding	Pathogenic
18	55254550	GAC	G	A55254551C	TCF4	NM_001083962.2(TCF4):c.1295_1296del:p.Gly432fs	coding	Pathogenic
18	55254554	AC	A	C55254557A	TCF4	NM_001083962.2(TCF4):c.1292del:p.Gly431fs	coding	Pathogenic
18	55254578	TCC	T	C55254579A	TCF4	NM_001083962.2(TCF4):c.1267_1268del:p.Gly423fs	coding	Pathogenic
18	55254602	AT	A	T55254603G	TCF4	NM_001083962.2(TCF4):c.1244del:p.His415fs	coding	Pathogenic
18	55254607	C	CA	C55254609A	TCF4	NM_001083962.2(TCF4):c.1239dup:p.Gly414fs	coding	Pathogenic
18	55254614	C	CATAG	C55254619A	TCF4	NM_001083962.2(TCF4):c.1229_1232dup:p.Met411fs	coding	Pathogenic
18	55254643	TC	T	C55254645G	TCF4	NM_001083962.2(TCF4):c.1203del:p.Asn402fs	coding	Pathogenic
18	55254677	TA	T	A55254680C	TCF4	NM_001083962.2(TCF4):c.1169del:p.Arg389_Leu390insTer	coding	Pathogenic/Likely_pathogenic
18	55257321	GT	G	T55257322G	TCF4	NM_001083962.2(TCF4):c.1139del:p.His380fs	coding	Pathogenic
18	55257325	A	AAC	G55257327C	TCF4	NM_001083962.2(TCF4):c.1135_1136insGT:p.Leu379fs	coding	Pathogenic
18	55259983	AG	A	G55259986T	TCF4	NM_001083962.2(TCF4):c.1034del:p.Pro345fs	coding	Pathogenic
18	55259986	GT	G	T55259989G	TCF4	NM_001083962.2(TCF4):c.1031del:p.Asn344fs	coding	Pathogenic
18	55261283	A	ACTAT	A55261288C	TCF4	NM_001083962.2(TCF4):c.990+179_990+182dup	noncoding	Benign
18	55261462	TCACCGAAG	T	C55261465A	TCF4	NM_001083962.2(TCF4):c.986_990+3del	noncoding	Pathogenic
18	55261478	T	CC	T55261478C	TCF4	NM_001083962.2(TCF4):c.978delinsGG:p.Ala327fs	coding	Pathogenic
18	55261514	TGCCCC	T	C55261517T	TCF4	NM_001083962.2(TCF4):c.937_941del:p.Gly313fs	coding	Pathogenic
18	55269822	GTGACTCACCCATT	G	T55269823A	TCF4	NM_001083962.2(TCF4):c.918_922+8del	noncoding	Pathogenic
18	55269829	ACCCAT	GGGAC	A55269829G	TCF4	NM_001083962.2(TCF4):c.919_922+2delinsGTCCC	noncoding	Pathogenic
18	55269832	CATTATACT	C	A55269833G	TCF4	NM_001083962.2(TCF4):c.913_920del:p.Ser305fs	coding	Pathogenic
18	55269844	TG	T	G55269845T	TCF4	NM_001083962.2(TCF4):c.908del:p.Thr303fs	coding	Pathogenic
18	55269961	GC	G	C55269962T	TCF4	NM_001083962.2(TCF4):c.791del:p.Ser264fs	coding	Pathogenic
18	55275645	AG	A	G55275646T	TCF4	NM_001083962.2(TCF4):c.762del:p.Cys255fs	coding	Pathogenic
18	55275664	AAT	A	A55275667G	TCF4	NM_001083962.2(TCF4):c.740_741AT[1]:p.Ile248fs	coding	Pathogenic
18	55275667	A	AT	G55275669T	TCF4	NM_001083962.2(TCF4):c.740dup:p.His247fs	coding	Pathogenic
18	55275690	CT	C	T55275691G	TCF4	NM_001083962.2(TCF4):c.717del:p.Gly240fs	coding	Pathogenic
18	55275711	TC	T	C55275714A	TCF4	NM_001083962.2(TCF4):c.696del:p.Gly232_Met233insTer	coding	Pathogenic
18	55275726	TCC	A	T55275726A	TCF4	NM_001083962.2(TCF4):c.680_682delinsT:p.Trp227fs	coding	Pathogenic
18	55275734	TC	T	C55275735A	TCF4	NM_001083962.2(TCF4):c.673del:p.Asp225fs	coding	Pathogenic
18	55275742	G	GT	G55275744T	TCF4	NM_001083962.2(TCF4):c.665dup:p.His222fs	coding	Pathogenic
18	55279548	T	TAC	C55279551A	TCF4	NM_001083962.2(TCF4):c.655+1_655+2dup	noncoding	Pathogenic
18	55279567	GCT	AAGTGCTGGTTGCATGAAG	G55279567A	TCF4	NM_001083962.2(TCF4):c.637_639delinsCTTCATGCAACCAGCACTT:p.Ser213fs	coding	Pathogenic
18	55279581	TG	T	G55279583T	TCF4	NM_001083962.2(TCF4):c.624del:p.Ser209fs	coding	Pathogenic
18	55279604	TAGCCTGGCG	GTCCCTATTGTAGTCGGC	T55279604G	TCF4	NM_001083962.2(TCF4):c.593_602delinsGCCGACTACAATAGGGAC:p.Ser198_Tyr201delinsCysArgLeuGlnTer	coding	Pathogenic
18	55350381	AC	A	C55350382T	TCF4	NM_001083962.2(TCF4):c.526del:p.Val176fs	coding	Pathogenic
18	55350390	A	ACT	T55350393C	TCF4	NM_001083962.2(TCF4):c.516_517dup:p.Val173fs	coding	Pathogenic
18	55350390	ACTTT	A	C55350395G	TCF4	NM_001083962.2(TCF4):c.510_513AAAG[1]:p.Lys172fs	coding	Pathogenic
18	55350903	CG	C	G55350907A	TCF4	NM_001083962.2(TCF4):c.469del:p.Arg157fs	coding	Pathogenic
18	55350957	AG	A	G55350960T	TCF4	NM_001083962.2(TCF4):c.415del:p.Leu139fs	coding	Pathogenic
18	55461028	TG	T	G55461030A	TCF4	NM_001083962.2(TCF4):c.294del:p.Arg99fs	coding	Pathogenic
18	57545820	C	CA	T57545829A	FECH	NM_000140.4(FECH):c.*4891dup	noncoding	Benign
18	57549424	T	TTA	A57549425T	FECH	NM_000140.4(FECH):c.*1287_*1288insTA	noncoding	Benign
18	57551315	CT	C	T57551317A	FECH	NM_000140.4(FECH):c.1136del:p.Lys379fs	coding	Pathogenic
18	57566460	GCTGTA	G	A57566465G	FECH	NM_000140.4(FECH):c.580_584del:p.Tyr194fs	coding	Pathogenic
18	57615862	C	CA	T57615864A	NARS1	NM_004548.3(NDUFB10):c.207dup:p.Glu70Ter	coding	Pathogenic
18	57615865	C	CT	A57615871T	NARS1	NM_004539.4(NARS1):c.203dup:p.Met69fs	coding	Pathogenic
18	57646472	AT	A	T57646479A	ATP8B1	NM_005603.6(ATP8B1):c.*2015del	coding	Benign
18	57661275	GT	G	T57661276G	ATP8B1	NM_005603.6(ATP8B1):c.2605del:p.Thr869fs	coding	Pathogenic
18	57661424	CTTAT	C	A57661427C	ATP8B1	NM_005603.6(ATP8B1):c.2453_2456del:p.Asn818fs	coding	Pathogenic
18	57668554	T	TAAAAAA	G57668571A	ATP8B1	NM_005603.6(ATP8B1):c.2098-30_2098-25dup	coding	Benign
18	57668554	T	TAAAA	G57668571A	ATP8B1	NM_005603.6(ATP8B1):c.2098-30_2098-27dup	coding	Benign
18	57684076	CAAG	C	G57684085C	ATP8B1	NM_001374385.1(ATP8B1):c.1581CTT[2]:p.Phe529del	coding	Pathogenic
18	57697807	A	AT	C57697816T	ATP8B1	NM_005603.6(ATP8B1):c.614dup:p.Asn205fs	coding	Pathogenic
18	57697830	CTCC	TGGAG	C57697830T	ATP8B1	NM_001374385.1(ATP8B1):c.589_592delinsCTCCA:p.Gly197fs	coding	Pathogenic
18	58700537	G	GAATT	C58700542A	MALT1	NM_006785.4(MALT1):c.596_599dup:p.Phe200fs	coding	Pathogenic
18	58700552	T	TC	A58700554C	MALT1	NM_006785.4(MALT1):c.611dup:p.Gln205fs	coding	Pathogenic
18	58733376	TCTTA	T	C58733377T	MALT1	NM_006785.4(MALT1):c.1223-20_1223-17del	noncoding	Benign/Likely_benign
18	58733494	GT	G	T58733495G	MALT1	NM_006785.4(MALT1):c.1321del:p.Cys441fs	coding	Pathogenic
18	58745650	AT	A	T58745661A	MALT1	NM_006785.4(MALT1):c.1912-5del	noncoding	Benign
18	59269380	GA	G	A59269381C	RAX	NM_013435.3(RAX):c.664del:p.Ser222fs	coding	Pathogenic
18	59333108	AG	A	G59333109T	LMAN1	NM_005570.4(LMAN1):c.1356del:p.Asn452_Leu453insTer	coding	Pathogenic
18	59347538	TG	T	G59347540A	LMAN1	NM_005570.4(LMAN1):c.796del:p.Gln266fs	coding	Pathogenic
18	59354506	AAC	A	A59354513T	LMAN1	NM_005570.4(LMAN1):c.539+5GT[3]	noncoding	Benign/Likely_benign
18	59359155	G	GC	G59359160C	LMAN1	NM_005570.4(LMAN1):c.89dup:p.Asp31fs	coding	Pathogenic
18	59431481	TG	T	G59431485C	CCBE1	NM_133459.4(CCBE1):c.*4426del	noncoding	Benign
18	59432955	G	GT	A59432965T	CCBE1	NM_133459.4(CCBE1):c.*2952dup	noncoding	Benign
18	59448074	G	GA	T59448075A	CCBE1	NM_133459.4(CCBE1):c.683_684insT:p.Leu229fs	coding	Pathogenic
18	60371513	G	GCA	A60371522C	MC4R	NM_005912.3(MC4R):c.835_836dup:p.Phe280fs	coding	Pathogenic
18	60371598	ATC	A	T60371599A	MC4R	NM_005912.3(MC4R):c.750_751del:p.Ile251fs	coding	Pathogenic
18	62072729	TA	T	A62072742G	PIGN	NM_176787.5(PIGN):c.2620-5del	noncoding	Benign/Likely_benign
18	62072729	T	TA	G62072743A	PIGN	NM_176787.5(PIGN):c.2620-17dup	noncoding	Benign/Likely_benign
18	62074825	G	GA	G62074835A	PIGN	NM_176787.5(PIGN):c.2577-13dup	noncoding	Benign/Likely_benign
18	62084582	GCAATAGAC	G	C62084583A	PIGN	NM_176787.5(PIGN):c.2443_2450del:p.Val815fs	coding	Pathogenic
18	62084590	CAG	C	A62084593G	PIGN	NM_176787.5(PIGN):c.2439_2440CT[1]:p.Ser814fs	coding	Pathogenic
18	62085237	C	CA	T62085244A	PIGN	NM_176787.5(PIGN):c.2397dup:p.Gly800fs	coding	Pathogenic
18	62090564	AAG	A	A62090569C	PIGN	NM_176787.5(PIGN):c.2189_2190CT[2]:p.Phe732fs	coding	Pathogenic
18	62102821	CT	C	T62102824A	PIGN	NM_176787.5(PIGN):c.1940del:p.Lys647fs	coding	Pathogenic
18	62106838	G	GT	A62106840T	PIGN	NM_176787.5(PIGN):c.1717dup:p.Thr573fs	coding	Pathogenic
18	62106867	G	GA	C62106874A	PIGN	NM_176787.5(PIGN):c.1688dup:p.Tyr564fs	coding	Pathogenic
18	62109913	G	GA	T62109920A	PIGN	NM_176787.5(PIGN):c.1494dup:p.Leu499fs	coding	Pathogenic
18	62109922	CT	C	T62109923A	PIGN	NM_176787.5(PIGN):c.1485del:p.Ala496fs	coding	Pathogenic
18	62113133	CC	TT	C62113133T	PIGN	NM_176787.5(PIGN):c.1434_1434+1delinsAA	coding	Pathogenic
18	62113309	AG	A	G62113312A	PIGN	NM_176787.5(PIGN):c.1258del:p.Leu420fs	coding	Pathogenic
18	62114560	CCACTT	C	C62114563T	PIGN	NM_176787.5(PIGN):c.1247_1251del:p.Glu416fs	coding	Pathogenic/Likely_pathogenic
18	62140461	T	TC	A62140463C	PIGN	NM_176787.5(PIGN):c.981dup:p.Met328fs	coding	Pathogenic/Likely_pathogenic
18	62148267	GA	G	A62148274C	PIGN	NM_176787.5(PIGN):c.620del:p.Phe207fs	coding	Pathogenic
18	62154348	TAGAAACAAAGGAGTTTAAAACTTCTCTTATTTATTTAGAATGTGTAATTTTTTAGAATTAAATCTTAGAATTCAGAACAGTGTGCTACAACATAGAACTTTCAAAGCTCATGAAAACAGAAAAAACGTGGGATACAGTCTCCAATACTTCAGGTAAAAATATGCTTTTTGTATATTAACCACTCAATAGCACAAACCTTAACATTATCAAAAACCCACGTATCCAGTTTTGTTGCATCTTGAGCACCAAAATCCTCTCTTTTAGCATCATAACTATATGTATAAACGTGGTCTCCACTAGCACCTGAAAAGAAAATTTGGAAAAAATAATCTTTTTACAAAATCTTTTAAACTATCATAAAATATGAGCTAGTCATTCACAGATTTTTGTGAGTAACCAGAATTTTCACAAAGCATTGTTCATTATGATGGGGAAGAGAAAAATGGGAGGAATAATTAACATTTATTTATGTTATGTGCTATGGACCATGCTACATACTTTAATGTATTCTATTGCTTTTTGTCCTCAAAAATAACATATTTTAATTTCGCAGATTCATTATATGTTAATTAACACACCAAAATCACAACTCTAATAAGCAATATAACAAAAATAAGCACAATATTTGTCTCCCTTTAAGGATTAAACTATTCAAAACATGTGTGCCCCTTAGAATGCTACAATCTAAAATAGATGATGTGTGTTGTACAAACCTTCTTAACATAAGAAGAAAATTCAGATATTTCACTTCTCTTATTCATAAACTATGAGTATTTTTCTCAACTTCTAAGAGAATAAATATTGCTTATTGCCAAAGAGTTTGAAGGGGTCAACAGATATGACAATCTCATATATTTGCAAGAGTGTATTAAGAATCTAAACAGTTTAGTGAATTTCTGAGTTTGATAGGCTCTTGCAGGTAATAAGAAAGAGATATGGCCAGTGTGGTGGCTCACACCTGTAATCCCTGTATTTTGGGAGGCCGAGGCAGGTGGATCACCGGAGGTCGGGAGATCGAGACCCCCCTGGCCAACATGATGAAACCCCGTCTCTACTAAAAAGAGAAAAAAATTAGCTGGGTGTGGTGGTGTGCGCTTGTAATCCCAGCTACTCAGGGGGCTGAGGCAGAAGAATCGCTTGAACCAAGGAGGCAGAGGTGGCAGTGAGCTGAGATCGTGCCACTGCACTCCAGCCTGGGCAACAAGGGCAAAACTCCGTCTCAAAAAAACAAAAACAAAAAGAGAGATATATAATAAAGTAATACAATCTTTATAGCACCAGTTCAGCTCTAATGACCCTATTCCACAGCTCAGCCATTCCTCTTCCCACATCCCAAATAAAAAGGTCTGACTGGGTTTGCTGTTTACTACAAGATATGGAACATTAGACTATCTCTAATTCAATTATTTGTCCTCTCCCATCCATTGTAGCCAGAAATAGGAATGTTAGTTTGATAAGCCATAGCAACTGAATCCACCCTTACCACCACCAGCTCCCAAAAAAACGAAACTGCTTTCCAAAGAAGGCAATATATAAATGGCAAACAGTTTGGGGCTTTTTGGTCCGCCCAGTATAATAATGTTCTATGACTATCATCTGTAAAATTCTCAATATATATTTTGCTTCCTGGACACATAATAATCTTCAATAGTTCCCATTATTTTAATTACACTCATGACTAAGTATGTTACAAATCCTTTCTGATAAGTGAAATGATCAATCTTTCTGCTCCCACTTAAAAGCATTTAATGACATGAAATTCATCCAACTGATTTTAGAAAATAATATAAATGAATTTTCTAATTAAGAGATGTCCCAATATTTGCAGAATCATGCATATAAACAATAAATCTAAATGCTACATTCAGTATATTAAATATCAATTTAAATAAATTATATGTTAAATGCCATATATATCAAATGCCAGAATATATGGCATCTTCGATGTATTAAAACAGGAATTATAACTATATATTTTAACACTTAAATATTTTTTTTGAGATAGGGTGTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCATAATCATGGCTCACTGCAGCCTCAACATCCCAGGCTCTCAAGCACTCTTCCCACCTCAGCCACCTGAGTAGTTGGGACTACAGGCACATGCCACCACACTCAGCTAATTTTTTGTTTGTTGTAGAGATGTGGGTCTCACCTTGTTGCCCAGACTGGTCTCCAACTCCTGAGCTCAAGTGATCCACCTGCCTCAGCCTCCCAAAATGCTGAGATTACAGGTGTGAGCCACTGTGCCCAGCCAATGTTTAAATCTTTATATGAGTAGCTACTAACTTTTAAAATAATTTACCAAAGTATAATGAACCACACCTCAACATCATCATTTATAATCAAGTTATGTGAAAAGTGCTATGCTAAATATTTCACATGAATTACATAATTTAATTATAAAAATAAATCTATGAGACAGAAACTAATATTATCACATTTTATGAAAAGGAAATTGAAGCTCAGAGAGGTTATATAAATTGCTCAAGATTATATAGCTGTTAAGCGATAGTGCTATATACCACTTAATTGAATCCAAAATACTATCTAACTGTATGATGTGCCAATATCTCAAGTATAACTAAGAAGGAAAAAAAAATACTGTAATTAAACATCCCTATTTCAGAAATGTTAAAAATGTAAAAATATGTGTAAAAATCAACACATACATTACATACATAAAAATAGAAAACTACCATATTGACTTACTCCCTATTTACTATCTGAGGAAACATAATCAGTGACTCTTACCTTTGGCAAACATAGGCAGGATATCTGGGCTTCCCCAGCTCCATGTGTATTTACTTTCATTAAAAAGAGAATCAAACTCTACAGGATTTTCCTTCCATCCTTCAGAAAGCAAGCAAGCAGTAATAGTTATATACACATGGTACAATAAGCCCCTAAAGAACTATTCTTCAAATAATAACAATTACATTAGTCAGTGAATAAATGCAAAACTAATAGATTTTATATTATGCATATTATACCACTATTTAAAAAAAAACTAACAATAGATAATTTACTTCTTAATGAAATATAAAATTATTTTTGAACTTTCAAGAGTAATATCTAGGAAAATTATGCTTCCATCCAACCCAAATTCTTTCAATAACACAGGATAATGAAATACTAAAGTTTCAATTCTGGAGTCAGTACCAGTGGGTATTCATGTCAGCAAAGCATGCTAAAACATTTGTCCAAAATATCTCAAAACATACCTTCACTTTGTGACATGATTAAGTGGTAAAGGACTAATATTTACTTGACAAATTTTTCATTTCATAAGATTGTCCAAATAGACAATACCTTTGGCAACTGCACTGACA	T	A62154349T	PIGN	NM_176787.5(PIGN):c.324_549+196del	noncoding	Pathogenic
18	62154538	CACAAACCT	C	A62154539T	PIGN	NM_176787.5(PIGN):c.548_549+6del	noncoding	Pathogenic/Likely_pathogenic
18	62157149	A	AT	A62157151T	PIGN	NM_176787.5(PIGN):c.421dup:p.Ile141fs	coding	Pathogenic
18	62325386	T	TTCGCGCTGCTGCTGCTCTGCGCGCTGC	C62325418G	TNFRSF11A	NM_003839.4(TNFRSF11A):c.39_65dup:p.Leu14_Ala22dup	coding	Pathogenic
18	62325387	T	TCGCGCTGCTGCTGCTCTG	C62325415G	TNFRSF11A	NM_003839.4(TNFRSF11A):c.45_62dup:p.Leu16_Leu21dup	coding	Pathogenic
18	62325397	G	GCTGCTCTGCGCGCTGCTC	G62325416C	TNFRSF11A	NM_003839.4(TNFRSF11A):c.46_63dup:p.Leu16_Leu21dup	coding	Pathogenic
18	62325400	G	GCTCTGCGCGCTGCTC	G62325416C	TNFRSF11A	NM_003839.4(TNFRSF11A):c.49_63dup:p.Leu17_Leu21dup	coding	Pathogenic
18	62979014	ACAG	A	G62979020C	PHLPP1	NM_194449.4(PHLPP1):c.4740_4742GCA[1]:p.Gln1581del	coding	Benign
18	63362810	CCTT	C	C63362811G	KDSR	NM_002035.4(KDSR):c.164_166del:p.Gln55_Gly56delinsArg	coding	Pathogenic
18	63792442	AG	TAAACTTTACCT	A63792442T	SERPINB7	NM_003784.4(SERPINB7):c.218_219delinsTAAACTTTACCT:p.Gln73fs	coding	Pathogenic
18	63798670	C	CT	G63798672T	SERPINB7	NM_003784.4(SERPINB7):c.522dup:p.Val175fs	coding	Pathogenic
18	63987098	CA	C	A63987100G	SERPINB8	NM_002640.4(SERPINB8):c.947del:p.Lys316fs	coding	Pathogenic
18	70048041	ACT	A	C70048042G	RTTN	NM_173630.4(RTTN):c.5469_5470del:p.Val1824fs	coding	Pathogenic
18	70086694	TAAAAAAAAAAAAAAAAA	T	A70086717G	RTTN	NM_173630.4(RTTN):c.4303-27_4303-11del	noncoding	Benign
18	70086694	TAAAAAAAAAAAAAAAA	T	A70086718G	RTTN	NM_173630.4(RTTN):c.4303-26_4303-11del	noncoding	Benign
18	70086694	TAAAAAAAAAAAAAAA	T	A70086719G	RTTN	NM_173630.4(RTTN):c.4303-25_4303-11del	noncoding	Benign
18	70114537	ATC	A	C70114539G	RTTN	NM_173630.4(RTTN):c.3589_3590del:p.Thr1196_Asp1197insTer	coding	Pathogenic
18	70142396	CA	C	A70142411C	RTTN	NM_173630.4(RTTN):c.2482-10del	noncoding	Benign
18	70142396	C	CA	C70142412A	RTTN	NM_173630.4(RTTN):c.2482-24dup	noncoding	Benign
18	70196614	T	TCTC	A70196619T	RTTN	NM_173630.4(RTTN):c.725_727dup:p.Gly242dup	coding	Benign
18	74571177	ACT	A	C74571180G	CNDP1	NM_032649.6(CNDP1):c.757-6_757-5del	noncoding	Benign
18	74633832	C	CAGT	G74633836A	ZNF407	NM_017757.2(ZNF407):c.2814_2816dup:p.Val939dup	coding	Pathogenic
18	75286488	C	CA	C75286489A	TSHZ1	NM_005786.6(TSHZ1):c.946_947insA:p.Pro316fs	coding	Pathogenic
18	79715187	T	TGGA	C79715209G	CTDP1	NM_004715.4(CTDP1):c.1728_1730GGA[8]:p.Glu582dup	coding	Benign
18	79728698	G	GTGTTTTGCCAGTCACCCTGGCTCAGTTAGCAAATTCTGATCCA	T79728743G	CTDP1	NM_004715.5(CTDP1):c.2418-207_2418-165dup	noncoding	Benign
18	79976959	GTTTTTGATTTTTTTTTTTGAGACGGAGTTTTGCTCTTGTTGCCTAGGCTGGAGTGCAATGGCATGATCTCGGCTAACTGCAACCTCCACCTCCTGGGTACAAGTGATTCTCCTGCCTCAGCCTCCCAGTAGCTGGGATTACAGGTATGCACCACCACGCCCGGCTAATTTTGTATTTTTAGTAGAGACTCGGTTTCACCATCTTAGCCCAGCTGGTCTCGAACTCCTGACCTTGTGATCCACCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGCTTTGAGCCACTGTGCCCGGCCTAAATTTGTGATTTTACAACATTTTTGATGAACAGATTATAGTTCCAGGTATCTAAAATGTCAGTAACAACATCTTTCATTGAATTACACTTCACCTAGGTTTCCCCGCAAAGTTATTTCAAAAGGGTAATTTGTTACTGAGTAAATGCTAAAACTAGAATTGTTACTTTGAAAATTATTTCAAAGATTCACACTGATTGCCTGGTGATACAAACGATTTTGGGACATGACTGTACAACCAACTTCCTTCAAAATAAAATAATCTAAAGAGATCTTGATTACATTAAGCTTCCAAACTGACAATATTCAATTTCAGTAACAACTTTAAGATAACGTACCTGAAGAAAAACATGACAGTACATGGATCGTATAACTCATACATTTTGTTGAAGTCAGGCACTTCTGTAATATCCACAAGATAAATAACTGCAAAATTTTTAACCTAAAAGGAGATTAAAAAAAAAAACTGAAATAACAGAACACTTTGGCTTTCATTTTATAGAAGCACATTTATAAAAACAAAACCAAGAATTTGTGTGGATCAGGGCAATTTTTGTTTTGTTTTTTTGAGACAGGGTCTCACTCTGTCATCCTAGAGTGCAATGGTGCAATCAGCTCACTGCAGCCTCGACCTCCCAGGCTCAAGCTATCCTCCCACCTCAGCCTCCCAAAGTGCTGGGATTATAGGAGTGAGCCATCACTCCTGGCCAACGGGGCAATTTTCAAACTAATTCTTCAACATTTTTTCCCAGTGCAGCAAACACGCGGGAAGATCATGTGACACTACTGGGACCTTGGCCACCGGCTCCTTCCGCCTCACGCCACCGTTTCCCAGAATAGTTCAGGAATTGGCCGCTGGCTCCTTCCGCCTCACTTTACCATCTCCCAGAATCGCCCAGGAATTAAATTTCACTCAGGTAACAAGTTATCAAAGTCCTGCAGAAAACGTCCACAGACATATTATTTATGCTGATCTAGTAATCATCTGTATGAACCTTTACAAATAGTTACATGCATCTCACAACTGCTCTAAAATATACCTGTAGAATCCTGCCATCATTTCCCCGCAATTAGGTCTGAACACTTGCAAATATTAATAGTACCTCCAATAATACTGCATATAACACATTTTCTGTTATTTTTTCTTTAATTGCAAGTTTATCAGAGATTTAGAAAAGTCAGAAAAATAAAAAGAAAATAAGATCACCTCCAATCCCAACACCTAGGGGTGACTGCTGCTATCTTTTTTCCAGAGACAGGATCTGGTTCTGCTGCCCAGGCTGGAGTGCAGTGGCAAGATCTTGGCTCACTGCAACCTCTGCCTCCTGGGCTCAAGCGATCCTCCCATCTCCGCCTCCCAAGCAGCCGGGACTACAGGCACGTACCATCACACCTGGCTAA	G	A79976966T	TXNL4A	NM_006701.5(TXNL4A):c.154-959_257+638del	noncoding	Pathogenic
18	79988261	GA	G	A79988262C	TXNL4A	NM_006701.5(TXNL4A):c.131del:p.Val44fs	coding	Pathogenic
19	615946	CCCGCCGCCG	C	C615960A	HCN2	NM_001194.4(HCN2):c.2144_2146CGC[4]:p.Pro719_Pro721del	coding	Benign
19	808771	TGGGCCGGGGGGCTCATG	T	G808782C	PTBP1	NM_002819.5(PTBP1):c.1463+20_1463+36del	noncoding	Benign
19	831815	GT	G	T831816G	AZU1	NM_001700.5(AZU1):c.695del:p.Val232fs	coding	Benign
19	852730	CGATCCCGTGGGTTCCCGGTGGGG	C	C852769T	ELANE	NM_001972.4(ELANE):c.68-107_68-85del	noncoding	Benign
19	853371	GTAAACTTGCTCAACGACATCGTGA	G	A853373T	ELANE	NM_001972.4(ELANE):c.336_359del:p.Asn113_Ile120del	coding	Pathogenic
19	855956	A	AGG	A855962G	ELANE	NM_001972.3(ELANE):c.600_601dupGG:p.Asp201Glyfs	noncoding	Pathogenic
19	920280	AC	A	C920287A	KISS1R	NM_032551.5(KISS1R):c.739-3del	noncoding	Benign
19	1046907	GCTGCGGGACACCATGCGCGCCATGGGGCTCAGCCGCGCGGTGCT	G	C1046911G	ABCA7	NM_019112.4(ABCA7):c.1732_1775del:p.Arg578fs	coding	Benign
19	1057435	G	GC	A1057441C	ABCA7	NM_019112.4(ABCA7):c.4880+11dup	noncoding	Benign
19	1085846	A	AGGACGGGGACGG	A1085864G	ARHGAP45	NM_001258328.3(ARHGAP45):c.3305_3310GGGACG[4]:p.1102_1103GD[4]	coding	Benign
19	1106230	CTTCTT	C	T1106234C	GPX4	NM_002085.5(GPX4):c.477-8_477-4del	noncoding	Pathogenic
19	1106406	ATC	A	T1106407G	GPX4	NM_002085.5(GPX4):c.509_510del:p.Ile170fs	coding	Pathogenic
19	1205798	GGCGTGTCGGGCGCGGAAGGGGGAGGCGGCCCGGGGCGCCCGCGAGTGAGGCGCGGGGCGGCGAAGGGAGCGCGGGTGGCGGCACTTGCTGCCGCGGCCTTGGATGGGCTGGGCCCCCCTCGCCGCTCCGCCTCCTCCACACGCGCGGCGGCCGCGGCGAGGGGGACGCGCCGCCCGGGGCCCGGCACCTTCGGGAACCCCCCGGCCCGGAGCCTGCGGCCTGCGCCGCCTCGGCCGCCGGGAGCCCCGTGGAGCCCCCGCCGCCGCGCCGCCCCGCGGACCGGACGCTGAGGGCACTCGGGGCGGGGCGCGCGCTCGGGCAGACGTTTGCGGGGAGGGGGGCGCCTGCCGGGCCCCGGCGACCACCTTGGGGGTCGCGGGCCGGCTCGGGGGGCGCCCAGTGCGGGCCCTCGCGGGCGCCGGGCAGCGACCAGCCCTGAGCGGAGCTGTTGGCCGCGGCGGGAGGCCTCCCGGACGCCCCCAGCCCCCCGAACGCTCGCCCGGGCCGGCGGGAGTCGGCGCCCCCCGGGAGGTCCGCTCGGTCGTCCGCGGCGGAGCGTTTGCTCCTGGGACAGGCGGTGGGACCGGGGCGTCGCCGGAGACGCCCCCAGCGAAGTTGGGCTCTCCAGGTGTGGGGGTCCCGGGGGGTAGCGACGTCGCGGACCCGGCCTGTGGGATGGGCGGCCCGGAGAAGACTGCGCTCGGCCGTGTTCATACTTGTCCGTGGGCCTGAGGTCCCCGGAGGATGACCTAGCACTGAAAAGCCCCGGCCGGCCTCCCCAGGGTCCCCGAGGACGAAGTTGACCCTGACCGGGCCGTCTCCCAGTTCTGAGGCCCGGGTCCCACTGGAACTCGCGTCTGAGCCGCCGTCCCGGACCCCCGGTGCCCGCCGGTCCGCAGACCCTGCACCGGGCTTGGACTCGCAGCCGGGACTGACGTGTAGAACAATCGTTTCTGTTGGAAGAAGGGTTTTTCCCTTCCTTTTGGGGTTTTTGTTGCCTTTTTTTTTTCTTTTTTCTTTGTAAAATTTTGGAGAAGGGAAGTCGGAACACAAGGAAGGACCGCTCACCCGCGGACTCAGGGCTGGCGGCGGGACTCCAGGACCCTGGGTCCAGCATGGAGGTGGTGGACCCGCAGCAGCTGGGCATGTTCACGGAGGGCGAGCTGATGTCGGTGGGTATGGACACGTTCATCCACCGCATCGACTCCACCGAGGTCATCTACCAGCCGCGCCGCAAGCGGGCCAAGCTCATCGGCAAGTACCTGATGGGGGACCTGCTGGGGGAAGGCTCTTACGGCAAGGTGAAGGAGGTGCTGGACTCGGAGACGCTGTGCAGGAGGGCCGTCAAGATCCTCAAGAAGAAGAAGTTGCGAAGGATCCCCAACGGGGAGGCCAACGTGAAGAA	G	C1205800T	STK11	NM_000455.5(STK11):c.-1114_290+1del	noncoding	Pathogenic
19	1206978	TG	T	G1206980A	STK11	NM_000455.4(STK11):c.67del:p.Asp23fs	coding	Pathogenic
19	1206989	A	ATCCACCGCATCGAC	A1207011C	STK11	NM_000455.5(STK11):c.84_97dup:p.Glu33fs	coding	Pathogenic
19	1206993	A	AC	G1206996C	STK11	NM_000455.4(STK11):c.82dup:p.Arg28fs	coding	Pathogenic
19	1207004	T	TC	A1207007C	STK11	NM_000455.4(STK11):c.93dup:p.Thr32fs	coding	Pathogenic
19	1207016	ATC	A	C1207018A	STK11	NM_000455.4(STK11):c.105_106del:p.Tyr36fs	coding	Pathogenic
19	1207018	CT	C	T1207019A	STK11	NM_000455.4(STK11):c.106del:p.Tyr36fs	coding	Pathogenic
19	1207040	GC	G	C1207042A	STK11	NM_000455.4(STK11):c.129del:p.Lys44fs	coding	Pathogenic
19	1207046	CTCATCGGCAAGT	C	T1207047A	STK11	NM_000455.4(STK11):c.134_145del:p.Leu45_Tyr49delinsHis	coding	Pathogenic
19	1207064	A	AT	G1207066T	STK11	NM_000455.5(STK11):c.152dup:p.Met51fs	coding	Pathogenic
19	1207065	TGG	T	G1207069A	STK11	NM_000455.4(STK11):c.156_157del:p.Asp53fs	coding	Pathogenic
19	1207065	T	TG	A1207071G	STK11	NM_000455.4(STK11):c.157dup:p.Asp53fs	coding	Pathogenic
19	1207077	T	TG	A1207083G	STK11	NM_000455.4(STK11):c.169dup:p.Glu57fs	coding	Pathogenic
19	1207091	T	TA	C1207093A	STK11	NM_000455.4(STK11):c.179dup:p.Tyr60Ter	coding	Pathogenic
19	1207091	T	TAC	G1207094A	STK11	NM_000455.4(STK11):c.179_180dup:p.Gly61fs	coding	Pathogenic
19	1207092	AC	A	C1207093G	STK11	NM_000455.4(STK11):c.180del:p.Ser59_Tyr60insTer	coding	Pathogenic
19	1207103	AAGGAGGTGCTGGACTCGGAGACGCTGTGC	A	T1207110G	STK11	NM_000455.4(STK11):c.197_225del:p.Val66fs	coding	Pathogenic
19	1207107	AGGTG	A	G1207108C	STK11	NM_000455.4(STK11):c.195_198del:p.Glu65fs	coding	Pathogenic
19	1207109	G	GT	G1207111T	STK11	NM_000455.4(STK11):c.197dup:p.Leu67fs	coding	Pathogenic
19	1207111	GC	G	C1207112T	STK11	NM_000455.4(STK11):c.199del:p.Leu67fs	coding	Pathogenic/Likely_pathogenic
19	1207121	G	GA	G1207123A	STK11	NM_000455.4(STK11):c.209dup:p.Thr71fs	coding	Pathogenic
19	1207128	TGTGCAGGAGGGCC	T	G1207131C	STK11	NM_000455.4(STK11):c.218_230del:p.Cys73fs	coding	Pathogenic
19	1207153	CA	C	A1207155G	STK11	NM_000455.5(STK11):c.242del:p.Lys81fs	coding	Pathogenic
19	1207173	G	GGA	T1207176G	STK11	NM_000455.5(STK11):c.261_262dup:p.Ile88fs	coding	Pathogenic
19	1207199	A	AAG	A1207203G	STK11	NM_000455.5(STK11):c.288_289dup:p.Lys97fs	coding	Pathogenic
19	1218447	CA	C	A1218452T	STK11	NM_000455.4(STK11):c.326del:p.Asn109fs	coding	Pathogenic
19	1218482	AC	A	C1218483G	STK11	NM_000455.4(STK11):c.357del:p.Asn119fs	coding	Pathogenic
19	1218488	A	AGAAGC	A1218494G	STK11	NM_000455.4(STK11):c.363_367dup:p.Gln123fs	coding	Pathogenic
19	1218495	G	GA	T1218500A	STK11	NM_000455.4(STK11):c.373dup:p.Met125fs	coding	Pathogenic
19	1219342	CT	C	T1219343G	STK11	NM_000455.4(STK11):c.394del:p.Cys132fs	coding	Pathogenic
19	1219345	CGT	C	T1219351G	STK11	NM_000455.4(STK11):c.398_399TG[2]:p.Cys134fs	coding	Pathogenic
19	1219366	GC	G	C1219367T	STK11	NM_000455.4(STK11):c.418del:p.Leu140fs	coding	Pathogenic
19	1219388	CGT	C	G1219389T	STK11	NM_000455.4(STK11):c.440_441del:p.Arg147fs	coding	Pathogenic
19	1219392	TC	T	C1219395A	STK11	NM_000455.4(STK11):c.446del:p.Pro149fs	coding	Pathogenic
19	1219429	AG	A	G1219433C	STK11	NM_000455.5(STK11):c.464+20del	noncoding	Benign/Likely_benign
19	1220403	G	GTACC	G1220409A	STK11	NM_000455.4(STK11):c.497_500dup:p.His168fs	coding	Pathogenic
19	1220431	A	AAGGACATC	A1220441G	STK11	NM_000455.4(STK11):c.525_532dup:p.Lys178fs	coding	Pathogenic
19	1220432	AG	A	G1220434A	STK11	NM_000455.5(STK11):c.526del:p.Asp176fs	coding	Pathogenic
19	1220444	C	CG	A1220449G	STK11	NM_000455.4(STK11):c.540dup:p.Asn181fs	coding	Pathogenic
19	1220444	CG	C	G1220448A	STK11	NM_000455.4(STK11):c.540del:p.Asn181fs	coding	Pathogenic
19	1220478	CA	C	A1220482T	STK11	NM_000455.4(STK11):c.574del:p.Ile192fs	coding	Pathogenic
19	1220518	TA	T	A1220519G	STK11	NM_000455.4(STK11):c.597+14del	noncoding	Benign/Likely_benign
19	1220588	A	AC	G1220592C	STK11	NM_000455.4(STK11):c.608dup:p.Phe204fs	coding	Pathogenic
19	1220594	TCGCGG	T	C1220597G	STK11	NM_000455.5(STK11):c.614_618del:p.Ala205fs	coding	Pathogenic
19	1220629	TC	T	C1220633G	STK11	NM_000455.4(STK11):c.650del:p.Pro217fs	coding	Pathogenic
19	1220652	GATTGCCAACGGCCTGGACACCTTCTCCGGCTTCAAGGTGGACATCTGGTCGGCTGGGGTCACCCTGTAAGTGCCCCGCCCCCCCGGGCACTCACCACACGCACACTCCGAGGGGCCTCTGCGTCTTGGGCAGCTGCCGGCCTGTGGGCGCAGGGCGTGGCCACCGGCCCAGACCCTCTCTGGCCACAGCCGCTAGGGGGTGCTTACTTTATGGAAATGTAACTCATACGGCAGATGGTGGTTCACCCGTGTGAAGTGCAGCCTGGCCCGTCAGGGATCTTCACAGAGTGGCACGGCCGACCCTCCTCCCAGAGCCCCACAGGGAAGCTGGGCGGGTGACAGCAGCTCCAGGCCCCTTCCCCGGGTGGGTCCAGAGGACACTCCCCTCCTACCCCGTAGCCTCCACTAGTGGAAGGTGGTGAAGACAGAGGTGTCCTTGAGTCCACAGGGCCTCTGGTCCAGCAGCCACGGGACGCCTCTGTCCCTGGGGTAGAGCTGGGGCTCCTAGGGCGTCAACCACCTTGACTGACCACGCCTTTCTTCCCTCCCCTCGAAATGAAGCTACAACATCACCACGGGTCTGTACCCCTTCGAAGGGGACAACATCTACAAGTTGTTTGAGAACATCGGGAAGGGGAGCTACGCCATCCCGGGCGACTGTGGCCCCCCGCTCTCTGACCTGCTGAAAGGTGGGAGCCTCATCCCTCTGCCCGCAGCCCCAGGGAGGCGGGGCTTTTGTGCAGAAATGTAGGGTTGGGGGTGTCAGGTGGGGGGCTATTGGCCCCGAGACCCCAGCAGGCATTGAGAGGACTGAGTGGAGAGGCCGACCTCCCCGCAGGGCCTGGTTTGCCAGGTCCCTCAGCTCCACCCTGCTTCTGGGCCCTGTTCACCCTCCGAACTCCCACCCCAGAGGGCAGTGCTGCCCTGCGCCTCCCCCAGCCCCACCCTCGGGGGCTCCCTGGCTTGCAGGGTCTGTCAGGGTTGTCCTGCTGCACTTCCTACGCATGGCAGCAGGTGGCACTGGCCGTCCGTCCATCTGCCCAGTGGCCTTGGGAGAACGGAACCGCCCTGGCCGTCCAGCCCAGCCCTGTCTCCCTGCCAGCCGCGCACAGGCTGTCCCCGGCATGTCCCAGGAGTGGAGTGGCCTCTGTCAGGGAGACCGCCTGTGCGCGGGGTCCCCCTTAGGAGCGTCCAGGTATCACCCAGGGCCTGACAACAGAGGCTGGGCAGGCGGGGACGGTTGGTGGGGTCTCAGGCCTGTGCCCAGCTGACAGGCTCCTCGCCGGCTTCTCCTCAGGGATGCTTGAGTACGAACCGGCCAAGAGGTTCTCCATCCGGCAGATCCGGCAGCACAGGTGAGCGGCCCCTGGGGGCAGTGGGGCCGAGGCTGCAGGGAGGCCGGCCATGTGGGCAGCTGGTTGAGCGGGCGCTAGAGCAGGGCGTGGTGGGGGTGCCAGGCTGGGCTGGGGCCAGACCCCGTGCAGCGCCCGCAGTTCTCGGGGCCCGAGTGGGGTCTCTGGGCAGTGTCCTGTTACCGGCCAGACCCAGGCGCCTTGTCCGAACTGGGGTCTGAGTGAGGACATGCGTCCGTCCCTGCCCTAGGCATGGAGATGCGCCAGGAAGGGCACAGCTGGTCCCAAACACTGGCGAGAGCCTCTCTTTTTCCCCTCCTCCTGGGGCTCCCAGC	G	T1220654G	STK11	NM_000455.5(STK11):c.671_920+333del	coding	Pathogenic
19	1220674	TTC	T	T1220677C	STK11	NM_000455.5(STK11):c.692_693TC[1]:p.Ser232fs	coding	Pathogenic
19	1220698	TGGTC	T	T1220701C	STK11	NM_000455.4(STK11):c.718_721del:p.Ser240fs	coding	Pathogenic
19	1220706	TG	T	G1220710T	STK11	NM_000455.4(STK11):c.727del:p.Val243fs	coding	Pathogenic
19	1221227	CG	C	G1221230T	STK11	NM_000455.4(STK11):c.752del:p.Gly251fs	coding	Pathogenic
19	1221232	C	CTGTA	C1221237T	STK11	NM_000455.4(STK11):c.755_758dup:p.Pro254fs	coding	Pathogenic
19	1221236	A	AC	T1221241C	STK11	NM_000455.5(STK11):c.762dup:p.Phe255fs	coding	Pathogenic
19	1221246	AG	A	G1221250A	STK11	NM_000455.5(STK11):c.772del:p.Asp258fs	coding	Pathogenic
19	1221264	GTTGT	G	T1221268A	STK11	NM_000455.4(STK11):c.790_793del:p.Phe264fs	coding	Pathogenic
19	1221267	GT	G	T1221270G	STK11	NM_000455.5(STK11):c.792del:p.Phe264fs	coding	Pathogenic
19	1221270	T	TGA	A1221275G	STK11	NM_000455.4(STK11):c.793_794GA[3]:p.Asn266fs	coding	Pathogenic
19	1221282	GA	G	A1221284G	STK11	NM_000455.5(STK11):c.806del:p.Lys269fs	coding	Pathogenic
19	1221293	AC	A	C1221294G	STK11	NM_000455.4(STK11):c.816del:p.Ser271_Tyr272insTer	coding	Pathogenic
19	1221299	T	AC	T1221299A	STK11	NM_000455.4(STK11):c.821delinsAC:p.Ile274fs	coding	Pathogenic
19	1221306	C	CGACTGTG	C1221315A	STK11	NM_000455.5(STK11):c.830_836dup:p.Pro280fs	coding	Pathogenic
19	1221309	CTG	C	T1221312G	STK11	NM_000455.4(STK11):c.832_833TG[1]:p.Cys278fs	coding	Pathogenic
19	1221314	GCC	G	C1221319G	STK11	NM_000455.4(STK11):c.841_842del:p.Pro281fs	coding	Pathogenic
19	1221314	GC	G	C1221320G	STK11	NM_000455.4(STK11):c.842del:p.Pro281fs	coding	Pathogenic
19	1221314	G	GC	G1221321C	STK11	NM_000455.4(STK11):c.842dup:p.Leu282fs	coding	Pathogenic
19	1221320	C	CG	C1221322G	STK11	NM_000455.4(STK11):c.843dup:p.Leu282fs	coding	Pathogenic
19	1221320	CG	C	G1221321C	STK11	NM_000455.4(STK11):c.843del:p.Leu282fs	coding	Pathogenic
19	1221321	G	GC	T1221323C	STK11	NM_000455.4(STK11):c.844dup:p.Leu282fs	coding	Pathogenic
19	1221946	CAG	C	A1221947G	STK11	NM_000455.5(STK11):c.863-2_863-1del	noncoding	Pathogenic
19	1221961	AC	A	C1221962G	STK11	NM_000455.4(STK11):c.876del:p.Glu291_Tyr292insTer	coding	Pathogenic
19	1221968	GGCCAA	G	C1221970A	STK11	NM_000455.4(STK11):c.884_888del:p.Ala295fs	coding	Pathogenic
19	1221975	AG	A	G1221977T	STK11	NM_000455.4(STK11):c.891del:p.Arg297fs	coding	Pathogenic
19	1221979	T	TCTCCATC	G1221988T	STK11	NM_000455.4(STK11):c.895_901dup:p.Arg301fs	coding	Pathogenic
19	1221984	AT	A	T1221985C	STK11	NM_000455.4(STK11):c.899del:p.Ile300fs	coding	Pathogenic
19	1221993	ATCCGGCAGC	A	T1221994A	STK11	NM_000455.4(STK11):c.908_916del:p.Ile303_His306delinsAsn	coding	Pathogenic
19	1221994	TC	T	C1221996G	STK11	NM_000455.4(STK11):c.910del:p.Arg304fs	coding	Pathogenic
19	1222004	CA	TCC	C1222004T	STK11	NM_000455.4(STK11):c.918_919delinsTCC:p.Ser307fs	coding	Pathogenic
19	1222986	TGGTTCCGGA	CC	T1222986C	STK11	NM_000455.5(STK11):c.922_931delinsCC:p.Trp308fs	coding	Pathogenic
19	1222992	CG	C	G1222994A	STK11	NM_000455.5(STK11):c.930del:p.Lys311fs	coding	Pathogenic
19	1222996	AG	A	G1222997A	STK11	NM_000455.5(STK11):c.933del:p.Lys312fs	coding	Pathogenic
19	1222997	GAA	G	A1222999C	STK11	NM_000455.4(STK11):c.935_936del:p.Lys312fs	coding	Pathogenic
19	1222997	GA	G	A1223000C	STK11	NM_000455.4(STK11):c.936del:p.Lys312fs	coding	Pathogenic
19	1223018	ACC	CCAGGTGGGA	A1223018C	STK11	NM_000455.5(STK11):c.954_956delinsCCAGGTGGGA:p.Pro319fs	coding	Pathogenic
19	1223024	GC	G	C1223027A	STK11	NM_000455.5(STK11):c.963del:p.Ile322fs	coding	Pathogenic
19	1223027	CA	C	A1223028T	STK11	NM_000455.5(STK11):c.964del:p.Ile322fs	coding	Pathogenic
19	1223028	A	AT	C1223030T	STK11	NM_000455.5(STK11):c.965dup:p.Pro324fs	coding	Pathogenic
19	1223050	A	AG	A1223053G	STK11	NM_000455.4(STK11):c.988dup:p.Asp330fs	coding	Pathogenic
19	1223050	AGGACCGGT	A	A1223053C	STK11	NM_000455.4(STK11):c.989_996del:p.Asp330fs	coding	Pathogenic
19	1223158	ACTTCACGGTGCCCGGTGAGTCTGGCGGGGGCCCCTGCCCGGCTCTGCTGACTCGGCCAGGATGTCCCACGGGAGCAGGGTGCCTGCCTGTCTGCAACAAGGACAGCTTCTGCCCTCTGGTGGCCAATCCCACGTCCCCAAAGCCTCCAGCCCACCTGCAGGCTGCCTCCGCCCTGCGGGCCGCTGGGACATGGCTGAAAGGTGTGGGGTCAGCGGGGGCACCAGCCCAGGCCTGTCTGGCCAGGAGGGTTCCTCAGGCGTCTCTCCGGGTGCTGCCCAGCCAGGCACCACCCACCGGCCTTGGCCTGAGTCCCAGCAGGAGCAGGCGGGGGAGCCCCAGGGTCGGGGGAGGGTAGGTGAGAGTCAGGGTGCAGGGTGGCCCCTCAGACAGCTGGCATGAGAGAGGGTCCAGTGGCCCTCCCTCCCGTCGTCCCTGAGGCCTGCCCGCTGGCCCTGATGCCGGCCGCCCTTCTTCCCTAGGTGGCGAGGAGGCGTCTGAGGCAGGGCTTAGAGCGGAGCGCGGCTTGCAGAAGAGCGAGGGCTCAGACCTTTCAGGAGAGGAAGCCTCTCGGCCGGCGCCGCAGTAGTGCCTGAGGAGGAGCTCAGGGCCTTAGCGTAGGGGCGGCCCACATTGGCAGCCAGCCCCTCCCCGCCATGCTCCCGGCTTGGCTGTGTTCGGCCCAGGGCTGGGCCGTGTCATAAAGAGTTTTGCAGTGTATCTGCAGGGTGGATGCTTGCTGCGCTCGGGCTGGAGCCTGAGGGGGCTTTCTGCTTTACTGTTTCAGCGGGAAGTGGTGGGCAGGGGCCGGCCTGAGAAGGGGGGTACGCCAGGCAGGTTGGGATGTGAGGACCCAGTGCACAGGGTCCACCCCCGGGCCCGAGGGTCCCAGAATAGTGGGGGCCCTGCAGAGAGCCCCCCATTAGGTCCCTCAGCACTCCTGGGCCCCTCATCAAACCCCTAGGCTCAGCTCAGTAGCTGGTCCCCAGGAGAGTACAGTGTGGGGGCCCCCGAGAGCACAGTGTATGGGGGTCCCCGGGGGGTACAGTGTCTGGGGGCCCCCCAGGAGGATGCAGCATGTGGGGGCCCCCCAGGAGGGTACAGCGTGTGTGGGGCCCCCAGGATCACAGGGTCTCAGCTCCTGGGCTCTTGGATTTGCAGCACCACGACCATCGCGTCTGGTCTGTTGGAACGGGAGGTGCTGCTGGGTACCCTGGTCACTAGGGTGTGCTGGGAGGTGGGGGCCC	A	T1223161C	STK11	NM_000455.4(STK11):c.1097_1108+1232del	coding	Pathogenic
19	1227597	T	TG	T1227599G	STK11	NM_000455.4(STK11):c.*22dup	noncoding	Benign
19	1391178	C	CG	T1391185G	NDUFS7	NM_024407.5(NDUFS7):c.455+19dup	noncoding	Benign
19	1398994	GC	G	C1399000G	GAMT	NM_000156.6(GAMT):c.491del:p.Gly164fs	coding	Pathogenic
19	1398994	G	GC	G1399001C	GAMT	NM_000156.6(GAMT):c.491dup:p.Val165fs	coding	Pathogenic
19	1399144	T	TG	T1399147G	GAMT	NM_000156.6(GAMT):c.442dup:p.Gln148fs	coding	Pathogenic
19	1399145	GGT	G	T1399153C	GAMT	NM_000156.6(GAMT):c.434_435AC[3]:p.His147fs	coding	Pathogenic
19	1399808	T	TGGGGCCCAGTCCC	A1399824G	GAMT	NM_000156.6(GAMT):c.299_311dup:p.Arg105fs	coding	Pathogenic
19	1399818	TC	T	C1399821G	GAMT	NM_000156.6(GAMT):c.301del:p.Asp101fs	coding	Pathogenic
19	1400165	GGGGCAGGGCTGGAGAGGCTGCCAGGAGGAGGGGATGCA	G	A1400170T	GAMT	NM_000156.6(GAMT):c.182-265_182-228del	noncoding	Benign
19	1401331	TA	T	A1401332G	GAMT	NM_000156.6(GAMT):c.145del:p.Tyr49fs	coding	Pathogenic
19	1401385	T	TCCGTG	C1401389T	GAMT	NM_000156.6(GAMT):c.91_92insCACGG:p.Asp31fs	coding	Pathogenic
19	1401440	C	CGGGCGCGAAGATGGGGGTCGCGCTGG	T1401473G	GAMT	NM_000156.6(GAMT):c.11_36dup:p.Gly13fs	coding	Pathogenic
19	1401452	TG	T	G1401457T	GAMT	NM_000156.6(GAMT):c.24del:p.Ile9fs	coding	Pathogenic
19	1466136	CCCGCTGG	C	T1466141A	APC2	NM_005883.2(APC2):c.2840_2846del:p.Leu947fs	coding	Pathogenic
19	1468494	G	GC	A1468501C	APC2	NM_005883.2(APC2):c.5199dup:p.Lys1734fs	coding	Pathogenic
19	1469940	GC	G	C1469946G	APC2	NM_005883.2(APC2):c.6645del:p.Ala2217fs	coding	Pathogenic
19	1496380	CG	C	G1496384C	REEP6	NM_138393.4(REEP6):c.448del:p.Ala150fs	coding	Pathogenic
19	1496626	A	AC	G1496631C	REEP6	NM_138393.4(REEP6):c.517+177dup	noncoding	Pathogenic
19	1912141	G	GCCGGGAGC	A1912154G	ADAT3	NM_138422.4(ADAT3):c.99_106dup:p.Glu36fs	coding	Pathogenic
19	2102254	GAC	G	C2102256G	AP3D1	NM_001261826.3(AP3D1):c.3565_3566del:p.Val1189fs	coding	Pathogenic
19	2249534	T	TC	T2249541C	AMH	NM_000479.5(AMH):c.208dup:p.Leu70fs	coding	Pathogenic
19	2251670	G	GAGCTCAGCGTAGACCTCCGCGCC	G2251694A	AMH	NM_000479.5(AMH):c.1397_1419dup:p.Glu474delinsSerSerAlaTer	coding	Pathogenic
19	2989673	GC	G	C2989674A	TLE6	NM_001143986.2(TLE6):c.1133del:p.Ala378fs	coding	Pathogenic
19	3115060	ACAT	A	A3115065T	GNA11	NM_002067.5(GNA11):c.595_597ATC[1]:p.Ile200del	coding	Pathogenic
19	3543480	G	GC	G3543492C	MFSD12	NM_001135580.1(C19orf71):c.322+18dup	noncoding	Benign
19	3586545	GGGGGGTCAGATAGGCCT	G	G3586548A	GIPC3	NM_133261.3(GIPC3):c.279_295del:p.Gln95fs	coding	Pathogenic
19	3589528	T	TG	C3589536G	GIPC3	NM_133261.3(GIPC3):c.685dup:p.Ala229fs	coding	Pathogenic
19	3589823	G	GC	A3589829C	GIPC3	NM_133261.3(GIPC3):c.706-3dup	noncoding	Benign
19	3769896	CCTGG	C	T3769898C	RAX2	NM_032753.4(RAX2):c.*721_*724del	noncoding	Benign
19	3770753	C	CCCCGGG	A3770769G	RAX2	NM_032753.4(RAX2):c.411_416CCCGGG[3]:p.138_139PG[3]	coding	Pathogenic
19	3924773	AT	A	T3924785A	ATCAY	NM_033064.5(ATCAY):c.*193del	noncoding	Benign
19	4094637	G	GC	T4094638C	MAP2K2	NM_030662.3(MAP2K2):c.1047-140_1047-139insG	noncoding	Benign
19	4117509	GTCA	G	A4117512G	MAP2K2	NM_030662.3(MAP2K2):c.210_212del:p.Asp71del	coding	Pathogenic
19	4123546	TCCGAGGGCCCCCTGCCCCGTCCTCCC	T	C4123580T	MAP2K2	NM_030662.3(MAP2K2):c.92+212_92+237del	noncoding	Benign
19	4123890	CCGG	C	G4123902C	MAP2K2	NM_030662.3(MAP2K2):c.-18_-16delCCG	noncoding	Benign
19	4168367	T	TG	A4168369G	CREB3L3	NM_032607.3(CREB3L3):c.732dup:p.Lys245fs	coding	Pathogenic
19	4544250	G	GCGCCAC	T4544267A	SEMA6B	NM_032108.4(SEMA6B):c.2006_2011GTGGCG[3]:p.Gly671_Gly672dup	coding	Benign
19	4817276	A	AAGG	G4817301A	TICAM1	NM_182919.3(TICAM1):c.1078_1080CCT[9]:p.Pro367dup	coding	Benign
19	5711836	CAGCCGGG	C	C5711840T	LONP1	NM_004793.4(LONP1):c.798_804del:p.Pro267fs	coding	Pathogenic
19	5711908	CCTT	C	C5711912G	LONP1	NM_004793.4(LONP1):c.727_729AAG[1]:p.Lys244del	coding	Benign/Likely_benign
19	6586044	AAAG	A	A6586048G	CD70	NM_001252.5(CD70):c.552_554CTT[1]:p.Phe186del	coding	Pathogenic
19	6586351	GA	G	A6586352G	CD70	NM_001252.5(CD70):c.250del:p.Ser84fs	coding	Pathogenic
19	6707285	CGT	C	G6707288T	C3	NM_000064.4(C3):c.2048-14_2048-13del	noncoding	Benign
19	6719307	AAC	A	C6719309G	C3	NM_000064.4(C3):c.169_170del:p.Val57fs	coding	Pathogenic
19	7115080	CAT	C	A7115081G	INSR	NM_000208.4(INSR):c.*1974_*1975del	noncoding	Benign
19	7115639	GT	G	T7115641A	INSR	NM_000208.4(INSR):c.*1416del	noncoding	Benign
19	7116125	C	CT	A7116139T	INSR	NM_000208.4(INSR):c.*930dup	noncoding	Benign
19	7116767	TG	T	G7116773A	INSR	NM_000208.4(INSR):c.*288del	noncoding	Benign
19	7126585	ATCACTGGCA	CTTCC	A7126585C	INSR	NM_000208.4(INSR):c.3003_3012delinsGGAAG:p.Ser1001fs	coding	Pathogenic
19	7142870	GGGTGTCCT	G	G7142874T	INSR	NM_000208.4(INSR):c.2480_2487del:p.Gln827fs	coding	Pathogenic
19	7150495	ACCTAGGGTCCTCGGCACCAGTGCCTGAAGAGGTTTTTCTGTGGAAACAAAACCAACGCCTTTGAGGACAGAGGGAACTTCATTAGACAGACCACTGGGCTCTGACACTTGGAGGCCACATGTGTCCGAGTAAGGGCACCCTGGCTTTGACCCTGGACCACTCGCTCCCATCACTTGCTAGACGGAGTGAGCTACATCTTCCCCAGCAGGTGCAGGGGTCCAGCAAGGGAAGGGGAAGAAATCAGAGAAAATTCTCCCCAGAGACGGCCTGCTGAGGTGGCCCTGGGATGTCAAACGTGACTACATGTGGACATCACAACTGACTCAGCCACTTCTCCAAGTCTGGCAGAATTTTTCTTTTCTTTCCCTTCTTTCTTCTTTCTCTCTCTCTTTCTGGTTTCTTTCCTCTTTCTCCTTTTCTTTTCTCTTTCTCTTTTCTCTCTCCCTCTCTCTCCTTCCTTCCTTCTTTCCTCTTTTACTTTCTTTCTCTCTTTTTCCCTCTTTCCTTCCTTCATTTGCTTTCTTTCTCTTTCCTTCCTTCTTTTTTTCATTTTCTTTCTCTTTCTTTTCTTTCTTTTCCTTTTTTCCTTCCTTCCTTCCCTCCTCTCTCCCTCCCTTGCCCCCTTCCTTTCTCTGTCCTTTCTTTCTCTCTTTCCTTTCTTTCTTTCTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTTTCTTTCTCTCTTCCTTCCTTCCTCTTTCCCTCCCTCCCTCCATTCCTTTCTTTCTTTCTTTTTTTCCCTTCCTTCCTTTTTGAGACAGGGTCTTGCTCTGTTGCCCAGGCTGGAGTGCAATGGTGCCATCATAGCTCACAGCAGCCTCCAACTCCTGTGCTCCAGCAATTCTCCCGCCTCAGCCTCCGGAGTAGCTGGGACTACAAGGCATGCACCAACATGTCTGGCTATTTTTTTTTTTTTTTTCCTTTTTTAGTAGAGATAGGGTCTCACTCTGTTGCTCAGGCTGGTCTCCACCTTTGGCCTCAACTGATTCTCCCACTTCGGCCTCCCAAAGTGCTGGGATTACACGAGTGAGCCACTGTGCCTAGCCAACATTTTGTTTGTAACAGGTGAAACAGTAACCACTTTGAAGCCTTGGCTGTCCCCCTGAACATTCTTTTGGACTCAGGGTCATAGGGGAAACATGCAACAAAAAAAGAAAAAGAAAAGAAAAAAAAAAAAGAGGATTCTTACACACTGGTGGTTCTGGGAGAAAAGTCTGCTCGGATGAATAGCATTGGTAAACATCTGAACAGATACTTTTAATTTTTTTTTAGAGACAGGGTCTCACTCTGTCACCCAGGCTGGAGCGCAGTGGCGCCATCATCGCTTATCGTAGCCTCCATCTCCTGGCCTCTTGTGATCCTTCTTTCTCAGCCTCCCCATGGGCTAGGAGTTCAGACATGCATTACCATGCCTGACTAATTTTTAAACTGTTTTTTTTTTTTTTTGGTAGCGATGGGGTCTCATTATGTTGCCCAGGCTGGCCTCAAGCAACCCTACCACCTCGGCTTCCCAACTAGCTGGGACCACAGGCTTACACCACTGCGCTCAGCTAAAGCCTCAATAATCACGGCCAGGCACGGTGGCTCACACCTATAATCCCAGCACTCTGGGAGGCCGAGGCAGGCAGATCACCTGAGGTCAGGGGTTAGAGACCAGCCTAGCCAACATGGCAAAACCCCGTCTCTACTAAAAATATAAAAATTAGCTGGGCGTGGTGCTGCGCACCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCACAAGAATCACTCGAACCCGGAAAGGGTGAGCTGAAATCGCACCACCGCACTCCAGCCTGGACGATAGAGTGAGACTCTGTCAAAAAAAAAAAAAAAAGAGAGAGAGAGAAAAAAAAAAATGTTAATCGTCTAACGGAGTTTGTTTTGGAACTCACGTGGAGACCAGCTCAGGAGAGGTAAGAAAGGCAAATGCTGAGTTTTGTCCATTTTTCCCCTTTTGTGCGATTATTTGCTCTTCCTGATAAAATTCCCCTCGAAATTTCGAAACTGCAAGATCTCTTCCTCCACCCAGGAAAGGGCTCCATTCAGACTCCACCCACCCTTCTGCCGTCTCTGGGTCCCACTACCTCTCGGTCCCTAAGTAATGACCTTCCACCAACACCAAGCCAATTGGCACCCACTAAGAGAGCCCAGCGCCAAGTCCTGACCTGGGGACGAAAACCACGTTGTGCAGGTAATCCTCAAACGTCTTCCTAAACGAGGACTCCTCCAGCTCCTTCAGGATCTGAGAGTCTGTCTTTGGACAGGAGCAGCATTCGCCGGCCGAATCCTCATACTCACTCTGGTTGTGCTTCTGAGAATCTTCAGACTCGAATGGTGGAGACCAGGTCCTCGAGGGCAGCTTCAGCC	A	C7150497T	INSR	NM_000208.4(INSR):c.2030_2267+1del	noncoding	Pathogenic
19	7184640	GGA	G	A7184660G	INSR	NM_000208.4(INSR):c.653-23TC[9]	noncoding	Benign
19	7184640	GGAGA	G	A7184658G	INSR	NM_000208.4(INSR):c.653-23TC[8]	noncoding	Benign/Likely_benign
19	7184640	G	GGA	G7184662A	INSR	NM_000208.4(INSR):c.653-23TC[11]	noncoding	Benign
19	7184640	G	GGAGAGAGA	G7184662A	INSR	NM_000208.4(INSR):c.653-23TC[14]	noncoding	Benign
19	7184643	GA	G	A7184644G	INSR	NM_000208.4(INSR):c.653-7del	noncoding	Benign
19	7184644	AGA	G	A7184644G	INSR	NM_000208.4(INSR):c.653-9_653-7delinsC	noncoding	Benign
19	7267643	GTAGT	G	G7267646A	INSR	NM_000208.4(INSR):c.350_353del:p.Asn117fs	coding	Pathogenic
19	7444427	G	GA	T7444432A	ARHGEF18	NM_015318.4(ARHGEF18):c.550dup:p.Ile184fs	coding	Pathogenic
19	7463839	TCTGCAGGCAG	T	C7463843G	ARHGEF18	NM_015318.4(ARHGEF18):c.1623_1632del:p.Cys541fs	coding	Pathogenic
19	7467500	GCGAGCGGCTGGAGCAGGAGCGGGC	G	G7467506T	ARHGEF18	NM_015318.4(ARHGEF18):c.2264_2287del:p.Arg755_Glu762del	coding	Pathogenic
19	7477288	C	CTA	G7477291T	PEX11G	NM_080662.4(PEX11G):c.638_639dup:p.Val214Ter	coding	Benign
19	7525092	AAGTTTCGAGCCAAGGGCCGCAAGCCCTGCAAGCT	TCA	A7525092T	MCOLN1	NM_020533.3(MCOLN1):c.163_197delinsTCA:p.Lys55fs	coding	Pathogenic
19	7525093	AGTTTCGAGCCAAGGGCC	A	T7525095C	MCOLN1	NM_020533.3(MCOLN1):c.166_182del:p.Phe56fs	coding	Pathogenic
19	7526502	TTC	T	T7526503C	MCOLN1	NM_020533.3(MCOLN1):c.302_303del:p.Phe101fs	coding	Pathogenic
19	7526799	G	GT	A7526801T	MCOLN1	NM_020533.3(MCOLN1):c.445dup:p.Tyr149fs	coding	Pathogenic
19	7526827	ACC	A	C7526828A	MCOLN1	NM_020533.3(MCOLN1):c.473_474del:p.Thr158fs	coding	Pathogenic
19	7527557	G	GC	A7527564C	MCOLN1	NM_020533.3(MCOLN1):c.615dup:p.Ser206fs	coding	Pathogenic
19	7528254	CACG	TACT	C7528254T	MCOLN1	NM_020533.3(MCOLN1):c.874_877delinsTACT:p.His292_Gly293delinsTyrTer	coding	Pathogenic
19	7528596	GGA	G	G7528599C	MCOLN1	NM_020533.3(MCOLN1):c.878_879GA[1]:p.Asp294fs	coding	Pathogenic
19	7528638	CT	C	T7528639C	MCOLN1	NM_020533.3(MCOLN1):c.920del:p.Leu307fs	coding	Pathogenic/Likely_pathogenic
19	7528850	GGGAC	G	A7528853G	MCOLN1	NM_020533.3(MCOLN1):c.1017_1020del:p.Arg340fs	coding	Pathogenic
19	7528881	G	GA	T7528884A	MCOLN1	NM_020533.3(MCOLN1):c.1047dup:p.Phe350fs	coding	Pathogenic/Likely_pathogenic
19	7529175	C	CT	A7529177T	MCOLN1	NM_020533.3(MCOLN1):c.1210dup:p.Tyr404fs	coding	Pathogenic
19	7530370	G	GCGCAGCAGGGC	C7530390G	MCOLN1	NM_020533.3(MCOLN1):c.1453_1463dup:p.Ser488fs	coding	Pathogenic
19	7533560	AG	A	G7533562C	MCOLN1	NM_020533.3(MCOLN1):c.1615del:p.Ala539fs	coding	Pathogenic
19	7536222	GT	G	T7536224C	PNPLA6	NM_001166114.2(PNPLA6):c.266del:p.Phe89fs	coding	Pathogenic
19	7542022	G	GC	T7542027C	PNPLA6	NM_001166114.2(PNPLA6):c.1211dup:p.Leu405fs	coding	Pathogenic
19	7542054	A	AG	A7542059G	PNPLA6	NM_001166114.2(PNPLA6):c.1243dup:p.Asp415fs	coding	Pathogenic
19	7550585	GC	G	C7550586A	PNPLA6	NM_001166114.2(PNPLA6):c.2016del:p.Ser673fs	coding	Pathogenic
19	7553950	C	CT	G7553952T	PNPLA6	NM_001166114.2(PNPLA6):c.2337dup:p.Val780fs	coding	Pathogenic
19	7554210	T	TC	G7554213C	PNPLA6	NM_001166114.2(PNPLA6):c.2405dup:p.Thr803fs	coding	Pathogenic
19	7554571	CT	C	T7554572G	PNPLA6	NM_001166114.2(PNPLA6):c.2483del:p.Leu828fs	coding	Pathogenic
19	7555724	C	CGCCA	G7555732A	PNPLA6	NM_001166114.2(PNPLA6):c.3058_3061dup:p.Arg1021fs	coding	Pathogenic
19	7557186	TG	T	G7557187C	PNPLA6	NM_001166114.2(PNPLA6):c.3300del:p.Arg1101fs	coding	Pathogenic
19	7558735	T	TTCTC	T7558743C	PNPLA6	NM_001166114.2(PNPLA6):c.3398-114TC[5]	noncoding	Benign
19	7561073	G	GC	A7561080C	PNPLA6	NM_001166114.2(PNPLA6):c.3882dup:p.Thr1295fs	coding	Pathogenic
19	7561127	AC	A	C7561133A	PNPLA6	NM_001166114.2(PNPLA6):c.3913+23del	noncoding	Benign
19	7561218	AG	A	G7561219A	PNPLA6	NM_006702.5(PNPLA6):c.3811del:p.Asp1271fs	coding	Pathogenic
19	7639064	TG	T	G7639065C	STXBP2	NM_006949.4(STXBP2):c.134del:p.Cys45fs	coding	Pathogenic
19	7639744	CAACA	C	A7639748G	STXBP2	NM_006949.4(STXBP2):c.187_190del:p.Lys63fs	coding	Pathogenic
19	7639772	CTG	C	T7639773G	STXBP2	NM_006949.4(STXBP2):c.212_213del:p.Leu71fs	coding	Pathogenic
19	7640743	CT	C	T7640744G	STXBP2	NM_006949.4(STXBP2):c.260del:p.Leu87fs	coding	Pathogenic
19	7641749	CCCCTTCCGG	GA	C7641749G	STXBP2	NM_006949.4(STXBP2):c.474_483delinsGA:p.Cys158fs	coding	Pathogenic
19	7642230	CTGA	C	G7642232A	STXBP2	NM_006949.4(STXBP2):c.693_695del:p.Ile232del	coding	Pathogenic
19	8366196	TC	T	C8366198T	ANGPTL4	NM_139314.3(ANGPTL4):c.430-4del	noncoding	Benign
19	8585059	G	GAGGGGGC	C8585068G	ADAMTS10	NM_030957.3(ADAMTS10):c.3043-12_3043-6dup	noncoding	Benign/Likely_benign
19	8978637	ACT	A	C8978642G	MUC16	NM_024690.2(MUC16):c.2496_2497AG[2]:p.Ser834_Pro835insTer	coding	Benign
19	10155029	GGA	TAT	G10155029T	DNMT1	NM_001130823.3(DNMT1):c.1518_1520delinsATA:p.Asp506_Pro507delinsGluTyr	coding	Pathogenic
19	10160070	GAA	G	A10160080T	DNMT1	NM_001130823.3(DNMT1):c.1044-9_1044-8del	noncoding	Benign
19	10160070	GA	G	A10160081T	DNMT1	NM_001130823.3(DNMT1):c.1044-8del	noncoding	Benign
19	10316029	G	GCGC	G10316036C	FDX2	NM_001031734.3(FDX2):c.-27_-25dup	noncoding	Benign
19	10358002	CCCTCCCTGG	C	C10358003A	TYK2	NM_003331.5(TYK2):c.2303_2311del:p.Ser768_Glu771delinsTer	coding	Pathogenic
19	10368399	GAAGC	G	C10368403G	TYK2	NM_003331.5(TYK2):c.209_212del:p.Cys70fs	coding	Pathogenic
19	10378257	CG	C	G10378258A	TYK2	NM_003331.5(TYK2):c.149del:p.Ser50fs	coding	Pathogenic
19	10985349	CA	C	A10985350G	SMARCA4	NM_003072.5(SMARCA4):c.300del:p.Gly102fs	coding	Pathogenic
19	10985349	CAG	C	A10985350G	SMARCA4	NM_003072.4(SMARCA4):c.300_301del:p.Gly102fs	coding	Pathogenic
19	10986493	AC	A	C10986495T	SMARCA4	NM_003072.4(SMARCA4):c.662del:p.Pro221fs	coding	Pathogenic
19	10986927	T	TC	A10986933C	SMARCA4	NM_003072.4(SMARCA4):c.788dup:p.Gly264fs	coding	Pathogenic
19	10987785	CCACCG	C	C10987788G	SMARCA4	NM_003072.4(SMARCA4):c.982_986del:p.Pro328fs	coding	Pathogenic
19	10989352	TTGA	T	T10989353A	SMARCA4	NM_003072.5(SMARCA4):c.1155_1157del:p.Glu386del	coding	Pathogenic
19	10994893	C	CA	T10994898A	SMARCA4	NM_003072.5(SMARCA4):c.1489dup:p.Ile497fs	coding	Pathogenic
19	10996249	CAGA	C	A10996255G	SMARCA4	NM_003072.4(SMARCA4):c.1633_1635AAG[1]:p.Lys546del	coding	Pathogenic
19	10996299	CG	C	G10996300T	SMARCA4	NM_003072.5(SMARCA4):c.1681del:p.Val561fs	coding	Pathogenic
19	10996371	GAAAA	G	A10996373G	SMARCA4	NM_001128849.2(SMARCA4):c.1754_1757del:p.Lys585fs	coding	Pathogenic
19	10996373	AAAAG	A	A10996376G	SMARCA4	NM_003072.4(SMARCA4):c.1757_1760del:p.Lys586fs	coding	Pathogenic
19	11013001	TC	T	C11013003T	SMARCA4	NM_003072.4(SMARCA4):c.2329del:p.Leu777fs	coding	Pathogenic
19	11023577	GC	G	C11023580T	SMARCA4	NM_001128849.2(SMARCA4):c.2922del:p.Phe975fs	coding	Pathogenic
19	11024356	TG	T	G11024357T	SMARCA4	NM_003072.5(SMARCA4):c.3000del:p.Met1000fs	coding	Pathogenic
19	11024389	T	TG	C11024391G	SMARCA4	NM_003072.5(SMARCA4):c.3033dup:p.Gln1012fs	coding	Pathogenic
19	11030821	T	TG	C11030828G	SMARCA4	NM_001128849.2(SMARCA4):c.3480dup:p.Leu1161fs	coding	Pathogenic
19	11033800	A	AGCTTCGCCCACACTGCC	C11033818G	SMARCA4	NM_003072.5(SMARCA4):c.3809_3825dup:p.Pro1276fs	coding	Pathogenic
19	11035113	CG	C	G11035115A	SMARCA4	NM_003072.5(SMARCA4):c.4153del:p.Glu1385fs	coding	Pathogenic
19	11058354	GA	G	A11058356G	SMARCA4	NM_003072.4(SMARCA4):c.4526del:p.Lys1509fs	coding	Pathogenic
19	11059783	GT	G	T11059784C	SMARCA4	NM_001128849.2(SMARCA4):c.4763del:p.Val1588fs	coding	Pathogenic
19	11089318	ACGGGTTAAAAAGCCGATGTCACATCGGCCGTTCGAAACTCCTCCTCTTGCAGTGAGGTGAAGACATTTGAAAATCACCCCACTGCAAACTCCTCCCCCTGCTAGAAACCTCACATTGAAATGCTGTAAATGACGTGGGCC	A	G11089320C	LDLR	NM_000527.4(LDLR):c.-229_-90del	noncoding	Pathogenic
19	11089356	CTCCTCC	TG	C11089356T	LDLR	NM_000527.4(LDLR):c.-193_-187delinsTG	noncoding	Pathogenic
19	11089361	CCTCTTGCAGTGAGGTGAAGACATTTGAAAATCACCCCACTGCAAACTCCTCCCCCTGCTAGAAACCTCACATTGAAATGCTGTAAATGACGTGGGCCCCGAGTGCAATCGCGGGAAGCCAGGGTTTCCAGCTAGGACACAGCAGGTCGTGATCCGGGTCGGGACACTGCCTGGCAGAGGCTGCGAGCATGGGGCCCTGGGGCTGGAAATTGCGCTGGACCGTCGCCTTGCTCCTCGCCGCGGCGGGGACTGCAGG	C	C11089362T	LDLR	GRCh38/hg38_19p13.2(chr19:11089362-11089616)x1	noncoding	Pathogenic
19	11089550	TG	T	G11089554C	LDLR	NM_001195798.2(LDLR):c.6del:p.Trp4fs	coding	Pathogenic
19	11089554	GC	G	C11089557T	LDLR	NM_000527.4(LDLR):c.9del:p.Trp4fs	coding	Pathogenic
19	11089572	GCGCTGGACCGT	G	T11089576C	LDLR	NM_000527.5(LDLR):c.28_38del:p.Trp10fs	coding	Pathogenic
19	11089579	A	ACCGT	G11089585C	LDLR	NM_000527.5(LDLR):c.33_36dup:p.Ala13fs	coding	Pathogenic
19	11089587	C	CT	G11089590T	LDLR	NM_000527.5(LDLR):c.41dup:p.Leu14fs	coding	Pathogenic
19	11089587	CT	C	T11089589G	LDLR	NM_000527.4(LDLR):c.41del:p.Leu14fs	coding	Pathogenic
19	11089611	TG	T	G11089612C	LDLR	NM_000527.4(LDLR):c.64del:p.Ala22fs	coding	Pathogenic
19	11100221	AGTGGGCGACAGATGCGAAAGAAACGAGTTCCAGTGCCAAGACGGGAAATGCATCTCCTACAAGTGGGTCTGCGATGGCAGCGCTGAGTGCCAGGATGGCTCTGATGAGTCCCAGGAGACGTGCTGTGAGTCCCCTTTGGGCATGATATGCATTTATTTTTGTAATAGAGACAGGGTCTCGCCATGTTGGCCAGGCTGGTCTTGAATTTCTGGTCTCAAGTGATCCGCTGGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCACCACGCCTGGCCTGTGACACGATTCTTAACCCCTTTTTGATGATGGCGGCTGGAAAAGTGGCCAGTGGATTTTGATGTATTCAATCATGAATTAGGAGGTGGGGAGAGAATGAATTATTGGAGCTTTCCTTAAAGCCATTAAATGGCTCTATTGTTTTTTCAATTGATGTGAATTTCACATAACATGAAATTAACCAGCTCAGTGGCATTAATACATCTGCAATGCTGTGTGGCCACCACCTCTATCTTGTTCCAAAACTTTGCATAACCTAATGTCTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGTTCCATCACCCAGGCTGGAGTGCAGTGGTGTGATCTCAGCTCACTGCAACCTCCGCCTCCCAGGTTCACGCCATCCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCACCCTCCACCACATCCGGCTAATTTTTTGTATCTTTAGTAGAGATGGGGTTTCACCATGTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGATCCACCTGCCTCCGCCTCCCAAAGTGCTGGCATTACAGGCGTGAGCCACCATGCCCGGCCTATTTTTTTTTTTAAGAGATGGAGTCTAATTCTGTTGCCCAGGCTGGAGTCCAGTGGTACCATCATACTTCACTGCAGCCTTGACCTCTTGGGCTCAAGTGATTCTCTTGCCTCGAACTCCCAAAGTATTGGGATTACAGGTGTGAGCCACCGCACTCAGCCTAATGTCCAGTTTTTAACAAGCTCCATTTAAATGCCCTCCGTTTTGACCCATAAAGGGGTAGGCTTGGCCGGGCACAATGGCTTGTGTCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGAAAGGCAGAAAGATTGCTTTATAAAGCCCAGGAGTTTGAGGGCCACCTGGGTGGCATAGCTAGACCTCATCTCTAAAAAATAAGTAATAAATAAATATTTGTTTTTGTTTTTTTCTTTTTCTTTTCTTTTTTTTTTTTTTTTGAGACGGAGTCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCGCGATCTCAGCTCACTGCAAGCTGTGCCTCCTGGGTTCATGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCACTACCACGCCCAGCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCACGTTAGCCAGGATGGTCTCAATCTCCTGACCTCGTGATCCGCCAGCTTTGGCCTCCCAAAGTGTTGGGATTACAGGCGTGAGCCACTGAGCCCGCCCCATATGTATGTATATATATATTTTTTTAAAATGGGAGACCAGGCATGGTGGCTCATGCCTAGAATCCCAGCACTTTGGGAAGCTGAGGTAGGCGGATCACTTGAGGCCATGAGTTTGAGACCAGCCTGCTCAACATGATGAAACTTCTATCTCTACTAAAAAAAAAAGTGGGATTAGGTCAGGCACGGTGGCTCACACCTGTAATCCCAGCACTTTCAGAGGCCGAGGCAGGAGGATCATGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAAAATACAAAAAATTAGCCAGGCGTGGTGGCGGGTGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCAAGATCGTGCCACTGTACTCCAGCCTGGGCGACAGAGCAAGACTCTGTCTCAAAAAAAAAAAAAAAAGTGGGATTGACATTCTCTTCAAAGTTCTGGGGTTTTCCTTTGCAAAGACAGGATTGGCAAGGCCAGTGGGTCTTTTTTGTGTGTGTGTGTGTGACGGAGTCTCACTCTGCCACCCAGGCTGGAGTGCAATGGCAGGATCTCGGCTCACCGCAACCTCCTCCTCCCAGGTTAAAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTGCCCGCCACCACACCCAACTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACTATATTGGCCAGGCTGGTCTTGAACCCCTGACCTCACGTGATCCACCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGTGCTCGGCCTCAGTGGGTCTTTCCTTTGAGTGACAGTTCAATCCTGTCTCTTCTGTAGTGTCTGTCACCTGCAAATCCGGGGACTTCAGCTGTGGGGGCCGTGTCAACCGCTGCATTCCTCAGTTCTGGAGGTGCGATGGCCAAGTGGACTGCGACAACGGCTCAGACGAGCAAGGCTGTCG	A	G11100222T	LDLR	GRCh38/hg38_19p13.2(chr19:11100222-11102787)x1	noncoding	Pathogenic
19	11100222	GTGGGCGACAGATGCGAAAGAAACGAGTTCCAGTGCCAAGACGGGAAATGCATCTCCTACAAGTGGGTCTGCGATGGCAGCGCTGAGTGCCAGGATGGCTCTGATGAGTCCCAGGAGACGTGCT	G	T11100223G	LDLR	NM_000527.5(LDLR):c.70_192del:p.Gly24_Leu64del	coding	Pathogenic
19	11100230	CA	C	A11100231G	LDLR	NM_000527.4(LDLR):c.76del:p.Arg26fs	coding	Pathogenic
19	11100230	CAG	C	G11100232T	LDLR	NM_000527.5(LDLR):c.77_78del:p.Arg26fs	coding	Pathogenic
19	11100245	C	CTGTGTTT	G11100246T	LDLR	NM_000527.4(LDLR):c.90_91insTGTGTTT:p.Glu31delinsCysValTer	coding	Pathogenic
19	11100245	CGAGTTCCAGTGCCA	C	G11100246A	LDLR	NM_000527.4(LDLR):c.91_104del:p.Glu31fs	coding	Pathogenic
19	11100247	AGTTCCAG	A	G11100248T	LDLR	NM_000527.5(LDLR):c.93_99del:p.Glu31fs	coding	Pathogenic
19	11100253	AG	A	G11100254T	LDLR	NM_000527.4(LDLR):c.99del:p.Gln33fs	coding	Pathogenic
19	11100262	AC	A	C11100263G	LDLR	NM_000527.4(LDLR):c.108del:p.Asp36fs	coding	Pathogenic
19	11100266	G	GA	T11100270A	LDLR	NM_000527.5(LDLR):c.114dup:p.Cys39fs	coding	Pathogenic
19	11100271	GC	AA	G11100271A	LDLR	NM_000527.5(LDLR):c.116_117delinsAA:p.Cys39Ter	coding	Pathogenic
19	11100271	GC	G	C11100272A	LDLR	NM_000527.4(LDLR):c.117del:p.Lys38_Cys39insTer	coding	Pathogenic
19	11100272	CA	C	A11100273T	LDLR	NM_000527.4(LDLR):c.118del:p.Ile40fs	coding	Pathogenic
19	11100285	T	TGG	T11100289G	LDLR	NM_000527.4(LDLR):c.132_133dup:p.Val45fs	coding	Pathogenic
19	11100293	CGATGGCAGCGCTGA	C	A11100295T	LDLR	NM_000527.4(LDLR):c.140_153del:p.Asp47fs	coding	Pathogenic
19	11100302	CG	C	G11100303C	LDLR	NM_000527.4(LDLR):c.148del:p.Ala50fs	coding	Pathogenic
19	11100326	TG	T	G11100327A	LDLR	NM_000527.4(LDLR):c.172del:p.Glu58fs	coding	Pathogenic
19	11100330	TC	T	C11100333A	LDLR	NM_000527.4(LDLR):c.178del:p.Gln60fs	coding	Pathogenic
19	11100340	C	CT	G11100341T	LDLR	NM_000527.5(LDLR):c.185_186insT:p.Cys63fs	coding	Pathogenic
19	11100344	C	CTG	A11100349T	LDLR	NM_000527.4(LDLR):c.190+2_190+3dup	coding	Pathogenic/Likely_pathogenic
19	11102662	A	CT	A11102662C	LDLR	NM_000527.5(LDLR):c.191-2delinsCT	noncoding	Pathogenic/Likely_pathogenic
19	11102666	TCTGTCACC	GACTTCA	T11102666G	LDLR	NM_000527.5(LDLR):c.193_201delinsGACTTCA:p.Ser65fs	coding	Pathogenic
19	11102667	C	CTA	G11102669A	LDLR	NM_000527.5(LDLR):c.195_196insAT:p.Val66fs	coding	Pathogenic
19	11102667	C	CT	G11102669T	LDLR	NM_000527.5(LDLR):c.195dup:p.Val66fs	coding	Pathogenic
19	11102667	CTG	C	G11102669C	LDLR	NM_000527.5(LDLR):c.196_197del:p.Val66fs	coding	Pathogenic
19	11102668	T	TA	G11102669A	LDLR	NM_000527.5(LDLR):c.195_196insA:p.Val66fs	coding	Pathogenic
19	11102671	C	CA	C11102673A	LDLR	NM_000527.5(LDLR):c.199dup:p.Thr67fs	coding	Pathogenic
19	11102683	CG	C	G11102687A	LDLR	NM_001195799.2(LDLR):c.190+2342del	coding	Pathogenic
19	11102698	TG	T	G11102703C	LDLR	NM_001195799.2(LDLR):c.190+2358del	coding	Pathogenic/Likely_pathogenic
19	11102698	T	TG	C11102704G	LDLR	NM_000527.5(LDLR):c.230dup:p.Arg78fs	coding	Pathogenic
19	11102703	GC	G	C11102705G	LDLR	NM_000527.4(LDLR):c.232del:p.Arg78fs	coding	Pathogenic
19	11102708	G	GT	C11102710T	LDLR	NM_000527.5(LDLR):c.236dup:p.Asn80fs	coding	Pathogenic
19	11102714	C	CG	C11102716G	LDLR	NM_000527.5(LDLR):c.242dup:p.Cys82fs	coding	Pathogenic
19	11102715	G	GCTGCATT	C11102724T	LDLR	NM_000527.4(LDLR):c.244_250dup:p.Pro84fs	coding	Pathogenic
19	11102716	CT	C	T11102717G	LDLR	NM_001195799.2(LDLR):c.190+2372del	coding	Pathogenic
19	11102722	T	GG	T11102722G	LDLR	NM_000527.4(LDLR):c.249delinsGG:p.Ile83fs	coding	Pathogenic
19	11102724	C	CCATTCTG	T11102725C	LDLR	NM_000527.4(LDLR):c.251_252insCATTCTG:p.Gln85fs	coding	Pathogenic
19	11102734	GA	AG	G11102734A	LDLR	NM_000527.5(LDLR):c.261_262delinsAG:p.Trp87_Arg88delinsTer	coding	Pathogenic
19	11102743	TG	T	G11102745C	LDLR	NM_000527.5(LDLR):c.272del:p.Gly91fs	coding	Pathogenic
19	11102768	TCA	T	C11102769G	LDLR	NM_000527.5(LDLR):c.296_297del:p.Gly98_Ser99insTer	coding	Pathogenic
19	11102773	CG	C	G11102774A	LDLR	NM_001195799.2(LDLR):c.190+2429del	coding	Pathogenic
19	11102775	AG	A	G11102776C	LDLR	NM_001195799.2(LDLR):c.190+2431del	coding	Pathogenic
19	11102781	GCTGT	G	T11102783G	LDLR	NM_000527.5(LDLR):c.310_313del:p.Cys104fs	coding	Pathogenic
19	11102785	TCG	T	C11102786T	LDLR	NM_000527.5(LDLR):c.313_313+1del	coding	Pathogenic
19	11102786	C	CG	T11102788G	LDLR	NM_001195798.2(LDLR):c.313+1dup	coding	Pathogenic/Likely_pathogenic
19	11102787	G	GT	A11102789T	LDLR	NM_000527.5(LDLR):c.313+2dup	noncoding	Pathogenic/Likely_pathogenic
19	11102789	AAGTGTGGCCCTGC	A	A11102790C	LDLR	NM_000527.4(LDLR):c.313+4_313+16del	noncoding	Pathogenic
19	11105219	GC	G	C11105224A	LDLR	NM_000527.5(LDLR):c.318del:p.Lys107fs	coding	Pathogenic
19	11105219	G	GC	A11105225C	LDLR	NM_000527.5(LDLR):c.318dup:p.Lys107fs	coding	Pathogenic
19	11105221	CCCCAAGACGTGCT	C	A11105226G	LDLR	NM_000527.5(LDLR):c.320_332del:p.Lys107fs	coding	Pathogenic
19	11105222	CCCAAGACGTGCTCCCAGGA	C	C11105224G	LDLR	NM_000527.4(LDLR):c.318_336del:p.Lys107fs	coding	Pathogenic
19	11105224	C	CA	G11105227A	LDLR	NM_000527.5(LDLR):c.320dup:p.Thr108fs	coding	Pathogenic
19	11105226	AGACGTGCTCCCAG	A	T11105231A	LDLR	NM_000527.5(LDLR):c.325_337del:p.Cys109fs	coding	Pathogenic
19	11105230	GT	TC	G11105230T	LDLR	NM_000527.5(LDLR):c.324_325delinsTC:p.Cys109Arg	coding	Pathogenic/Likely_pathogenic
19	11105232	G	GC	T11105234C	LDLR	NM_000527.5(LDLR):c.327dup:p.Ser110fs	coding	Pathogenic
19	11105239	GGACGAGTTTC	G	A11105241C	LDLR	NM_000527.5(LDLR):c.335_344del:p.Asp112fs	coding	Pathogenic
19	11105242	C	CG	A11105244G	LDLR	NM_000527.4(LDLR):c.337dup:p.Glu113fs	coding	Pathogenic
19	11105243	GAGTTTCGCTGCCACGA	G	A11105244T	LDLR	NM_000527.5(LDLR):c.338_353del:p.Glu113fs	coding	Pathogenic
19	11105244	A	AG	T11105246G	LDLR	NM_000527.5(LDLR):c.339dup:p.Phe114fs	coding	Pathogenic
19	11105244	AGTTTC	A	T11105246C	LDLR	NM_001195800.2(LDLR):c.314-2146_314-2142del	coding	Pathogenic/Likely_pathogenic
19	11105255	C	CACGATGGGAAGTGCATCTCTCGG	C11105279A	LDLR	NM_000527.5(LDLR):c.350_372dup:p.Gln125fs	coding	Pathogenic
19	11105258	GA	G	A11105259T	LDLR	NM_001195800.2(LDLR):c.314-2133del	coding	Pathogenic
19	11105259	ATGGGAAG	A	G11105262C	LDLR	NM_000527.5(LDLR):c.356_362del:p.Gly119fs	coding	Pathogenic
19	11105260	TG	T	G11105263A	LDLR	NM_001195800.2(LDLR):c.314-2129del	coding	Pathogenic
19	11105270	ATC	A	T11105275G	LDLR	NM_001195800.2(LDLR):c.314-2121TC[2]	coding	Pathogenic
19	11105271	T	TC	T11105273C	LDLR	NM_000527.5(LDLR):c.366dup:p.Ser123fs	coding	Pathogenic
19	11105273	TCTCGGCAGTTCGTCTGTGACTCAGA	T	T11105275C	LDLR	NM_000527.5(LDLR):c.369_393del:p.Arg124fs	coding	Pathogenic
19	11105277	G	GC	G11105278C	LDLR	NM_000527.5(LDLR):c.371_372insC:p.Gln125fs	coding	Pathogenic
19	11105279	C	CACTG	G11105281C	LDLR	NM_000527.5(LDLR):c.374_375insCTGA:p.Gln125delinsHisTer	coding	Pathogenic
19	11105283	TC	T	C11105284G	LDLR	NM_000527.4(LDLR):c.378del:p.Phe126fs	coding	Pathogenic
19	11105284	CG	C	G11105285T	LDLR	NM_001195800.2(LDLR):c.314-2107del	coding	Pathogenic
19	11105287	CTGTG	C	T11105288A	LDLR	NM_000527.5(LDLR):c.382_385del:p.Cys128fs	coding	Pathogenic
19	11105294	T	TC	A11105296C	LDLR	NM_000527.5(LDLR):c.389dup:p.Asp131fs	coding	Pathogenic
19	11105300	C	CG	A11105304G	LDLR	NM_000527.5(LDLR):c.397dup:p.Asp133fs	coding	Pathogenic
19	11105326	GGCCTCCT	G	T11105330C	LDLR	NM_000527.5(LDLR):c.424_430del:p.Ser142fs	coding	Pathogenic
19	11105336	C	CCGGT	G11105341C	LDLR	NM_000527.5(LDLR):c.431_434dup:p.Leu146fs	coding	Pathogenic
19	11105337	C	CG	T11105340G	LDLR	NM_000527.5(LDLR):c.433dup:p.Val145fs	coding	Pathogenic
19	11105345	A	ACCTGTGGTCCC	G11105357C	LDLR	NM_001195800.2(LDLR):c.314-2046_314-2036dup	coding	Pathogenic
19	11105348	TGTGGTCCCGCCAGCTTCCAGTGCAACAGCTCCACCTGCATCCCCCAGCTGTGGGCCTGCGAC	A	T11105348A	LDLR	NM_001195800.2(LDLR):c.314-2044_314-1982delinsA	coding	Pathogenic
19	11105353	T	TC	G11105357C	LDLR	NM_000527.5(LDLR):c.450dup:p.Ala151fs	coding	Pathogenic
19	11105370	G	GCAACAGCTCCACCTGCATC	C11105391A	LDLR	NM_000527.5(LDLR):c.466_484dup:p.Pro162fs	coding	Pathogenic
19	11105371	CA	C	A11105373C	LDLR	NM_001195800.2(LDLR):c.314-2019del	coding	Pathogenic/Likely_pathogenic
19	11105374	C	CAG	C11105377A	LDLR	NM_000527.5(LDLR):c.469_470dup:p.Ser157fs	coding	Pathogenic
19	11105377	CT	C	T11105378C	LDLR	NM_001195800.2(LDLR):c.314-2014del	coding	Pathogenic
19	11105385	GCATCCCC	G	T11105388G	LDLR	NM_000527.5(LDLR):c.482_488del:p.Ile161fs	coding	Pathogenic
19	11105409	ACAACGAC	A	A11105411C	LDLR	NM_000527.4(LDLR):c.505_511del:p.Asn169fs	coding	Pathogenic
19	11105414	G	GC	A11105415C	LDLR	NM_000527.5(LDLR):c.508_509insC:p.Asp170fs	coding	Pathogenic
19	11105415	A	AC	G11105420C	LDLR	NM_000527.5(LDLR):c.513dup:p.Asp172fs	coding	Pathogenic
19	11105415	AC	A	C11105419G	LDLR	NM_001195800.2(LDLR):c.314-1973del	coding	Pathogenic
19	11105423	TGCGAAGATGGCTCG	T	C11105425A	LDLR	NM_000527.4(LDLR):c.519_532del:p.Cys173_Asp178delinsTer	coding	Pathogenic
19	11105423	TG	T	G11105424C	LDLR	NM_000527.4(LDLR):c.518del:p.Cys173fs	coding	Pathogenic
19	11105431	T	TGGCTCGGA	T11105440G	LDLR	NM_000527.5(LDLR):c.526_533dup:p.Asp178fs	coding	Pathogenic
19	11105436	CG	C	G11105438A	LDLR	NM_000527.4(LDLR):c.532del:p.Asp178fs	coding	Pathogenic
19	11105438	G	GT	A11105439T	LDLR	NM_000527.5(LDLR):c.532_533insT:p.Asp178fs	coding	Pathogenic
19	11105440	T	TGGCTCGGA	A11105442G	LDLR	NM_000527.4(LDLR):c.535_536insGCTCGGAG:p.Glu179fs	coding	Pathogenic
19	11105459	A	AG	T11105464G	LDLR	NM_000527.4(LDLR):c.557dup:p.Leu187fs	coding	Pathogenic
19	11105459	AG	A	G11105463T	LDLR	NM_001195800.2(LDLR):c.314-1929del	coding	Pathogenic
19	11105463	GTCTTTACGTGT	G	T11105466C	LDLR	NM_000527.5(LDLR):c.560_570del:p.Leu187fs	coding	Pathogenic
19	11105464	T	TG	C11105465G	LDLR	NM_000527.5(LDLR):c.558_559insG:p.Leu187fs	coding	Pathogenic
19	11105465	CT	C	T11105468A	LDLR	NM_001195800.2(LDLR):c.314-1924del	coding	Pathogenic
19	11105465	CTT	C	T11105467A	LDLR	NM_000527.5(LDLR):c.561_562del:p.Tyr188fs	coding	Pathogenic
19	11105470	CG	C	G11105471T	LDLR	NM_000527.4(LDLR):c.565del:p.Val189fs	coding	Pathogenic
19	11105471	GTGTTCCAAGGGGACAGTAGCCCC	G	T11105474C	LDLR	NM_000527.5(LDLR):c.568_590del:p.Phe190fs	coding	Pathogenic
19	11105471	GTGT	TG	G11105471T	LDLR	NM_001195800.2(LDLR):c.314-1921_314-1918delinsTG	coding	Pathogenic
19	11105479	A	AG	A11105484G	LDLR	NM_000527.5(LDLR):c.577dup:p.Asp193fs	coding	Pathogenic
19	11105482	GGACAGTA	G	A11105484C	LDLR	NM_000527.5(LDLR):c.578_584del:p.Asp193fs	coding	Pathogenic
19	11105483	GA	G	A11105484C	LDLR	NM_001195800.2(LDLR):c.314-1908del	coding	Pathogenic
19	11105484	AC	A	C11105485A	LDLR	NM_000527.5(LDLR):c.579del:p.Asp193fs	coding	Pathogenic
19	11105486	AG	A	G11105487T	LDLR	NM_000527.5(LDLR):c.581del:p.Ser194fs	coding	Pathogenic
19	11105487	G	GA	T11105488A	LDLR	NM_000527.5(LDLR):c.581_582insA:p.Ser194fs	coding	Pathogenic
19	11105487	GTAGCCCC	G	A11105489G	LDLR	NM_000527.5(LDLR):c.583_589del:p.Ser195fs	coding	Pathogenic
19	11105505	TC	T	C11105506G	LDLR	NM_001195800.2(LDLR):c.314-1886del	coding	Pathogenic
19	11105514	AC	A	C11105515T	LDLR	NM_000527.4(LDLR):c.609del:p.Cys204fs	coding	Pathogenic
19	11105520	T	TA	G11105523A	LDLR	NM_000527.5(LDLR):c.616dup:p.Ser206fs	coding	Pathogenic
19	11105521	AAGTGGCGAGTGCATCCACTCC	A	T11105524C	LDLR	NM_000527.4(LDLR):c.618_638del:p.Gly207_Ser213del	coding	Pathogenic
19	11105522	AG	A	G11105523T	LDLR	NM_000527.4(LDLR):c.617del:p.Ser206fs	coding	Pathogenic
19	11105523	GTGGCGAGTGCATCCACTCCAGC	G	A11105529C	LDLR	NM_000527.5(LDLR):c.623_644del:p.Glu208fs	coding	Pathogenic
19	11105529	A	AGT	C11105533T	LDLR	NM_000527.5(LDLR):c.625_626dup:p.Ile210fs	coding	Pathogenic
19	11105550	GCT	G	C11105551G	LDLR	NM_000527.5(LDLR):c.645_646del:p.Arg215_Cys216insTer	coding	Pathogenic
19	11105551	CT	C	T11105552G	LDLR	NM_000527.4(LDLR):c.646del:p.Cys216fs	coding	Pathogenic
19	11105551	CTG	C	T11105554A	LDLR	NM_001195800.2(LDLR):c.314-1838_314-1837del	coding	Pathogenic
19	11105553	G	GT	G11105555T	LDLR	NM_000527.5(LDLR):c.648dup:p.Asp217Ter	coding	Pathogenic/Likely_pathogenic
19	11105555	GATGGTGGCCCCGACTGCAAGGACAAATCTGACGAGGA	G	T11105557A	LDLR	NM_000527.5(LDLR):c.651_687del:p.Asp217fs	coding	Pathogenic
19	11105555	G	GT	A11105556T	LDLR	NM_000527.5(LDLR):c.649_650insT:p.Asp217fs	coding	Pathogenic
19	11105556	ATGG	A	T11105560C	LDLR	NM_001195800.2(LDLR):c.314-1832_314-1830del	coding	Pathogenic/Likely_pathogenic
19	11105557	TG	T	G11105559T	LDLR	NM_000527.4(LDLR):c.653del:p.Gly218fs	coding	Pathogenic/Likely_pathogenic
19	11105561	G	GGCCCC	A11105568C	LDLR	NM_000527.5(LDLR):c.657_661dup:p.Asp221fs	coding	Pathogenic
19	11105562	GCCCCGA	G	C11105564T	LDLR	NM_000527.4(LDLR):c.658_663del:p.Pro220_Asp221del	coding	Pathogenic
19	11105562	GC	G	C11105566G	LDLR	NM_001195800.2(LDLR):c.314-1826del	coding	Pathogenic
19	11105565	C	CCGACTGCAAGGACAAATCTGA	G11105590C	LDLR	NM_000527.5(LDLR):c.663_683dup:p.Asp221_Asp227dup	coding	Pathogenic/Likely_pathogenic
19	11105565	CCGACTGCAAGGACAAAT	C	G11105567T	LDLR	NM_000527.5(LDLR):c.661_677del:p.Pro220_Asp221insTer	coding	Pathogenic
19	11105566	C	CGACTGCAAGGACA	A11105580G	LDLR	NM_000527.5(LDLR):c.661_673dup:p.Lys225fs	coding	Pathogenic
19	11105566	C	CGACTGCAAGGACAAATCT	G11105588T	LDLR	NM_000527.4(LDLR):c.664_681dup18:p.Asp227_Glu228insCysLysAspLysSerAsp	coding	Pathogenic/Likely_pathogenic
19	11105567	G	ATCAC	G11105567A	LDLR	NM_000527.5(LDLR):c.661delinsATCAC:p.Asp221fs	coding	Pathogenic
19	11105567	G	GACTGCAAGGACAAATCTGAC	G11105588A	LDLR	NM_000527.4(LDLR):c.662_681dup:p.Glu228fs	coding	Pathogenic
19	11105570	TGCAAGGACAAATCTGAC	CCGACTG	T11105570C	LDLR	NM_000527.5(LDLR):c.664_681delinsCCGACTG:p.Cys222fs	coding	Pathogenic
19	11105570	T	TGCAAGGACAAATCTGAC	A11105589C	LDLR	NM_000527.4(LDLR):c.666_682dup:p.Glu228fs	coding	Pathogenic
19	11105571	GCAAGGACAAATCTGACGAGGAAA	G	C11105572A	LDLR	NM_000527.4(LDLR):c.666_688del:p.Cys222_Asn230delinsTer	coding	Pathogenic
19	11105571	GCAAGGACAAATCTGACGAGGAA	G	C11105572A	LDLR	NM_000527.5(LDLR):c.666_687del:p.Asp221_Cys222insTer	coding	Pathogenic
19	11105573	A	AAGGACAAATCTGAC	G11105588A	LDLR	NM_000527.5(LDLR):c.668_681dup:p.Glu228fs	coding	Pathogenic
19	11105574	A	AG	A11105577G	LDLR	NM_000527.5(LDLR):c.670dup:p.Asp224fs	coding	Pathogenic
19	11105574	A	AGGACAAATCTG	A11105586G	LDLR	NM_000527.5(LDLR):c.669_679dup:p.Asp227fs	coding	Pathogenic
19	11105574	AGGACAAAT	A	G11105575C	LDLR	NM_000527.4(LDLR):c.669_676del:p.Lys223fs	coding	Pathogenic
19	11105575	GGACAAATCTGACGA	AACTGCGGTAAACTGCGGTAAACT	G11105575A	LDLR	NM_001195800.2(LDLR):c.314-1817_314-1803delinsAACTGCGGTAAACTGCGGTAAACT	coding	Pathogenic
19	11105576	GACAAA	G	A11105577T	LDLR	NM_001195800.2(LDLR):c.314-1815_314-1811del	coding	Pathogenic
19	11105578	CA	C	A11105581T	LDLR	NM_001195800.2(LDLR):c.314-1811del	coding	Pathogenic
19	11105579	A	AAATCTGAC	G11105588A	LDLR	NM_000527.5(LDLR):c.674_681dup:p.Glu228fs	coding	Pathogenic
19	11105579	AAATCTGACG	TGCAA	A11105579T	LDLR	NM_000527.5(LDLR):c.673_682delinsTGCAA:p.Lys225fs	coding	Pathogenic
19	11105580	A	AATCTGAC	G11105588A	LDLR	NM_000527.5(LDLR):c.675_681dup:p.Glu228delinsIleTer	coding	Pathogenic
19	11105582	TCTGACGAGGAAAA	T	A11105586C	LDLR	NM_000527.4(LDLR):c.680_692del:p.Asp227fs	coding	Pathogenic
19	11105582	T	TCTGAC	G11105588C	LDLR	NM_000527.5(LDLR):c.677_681dup:p.Glu228fs	coding	Pathogenic
19	11105585	GAC	G	A11105586G	LDLR	NM_000527.4(LDLR):c.680_681delAC:p.Asp227Glyfs	coding	Pathogenic/Likely_pathogenic
19	11105586	AC	A	C11105587G	LDLR	NM_000527.4(LDLR):c.681del:p.Asp227fs	coding	Pathogenic
19	11105586	ACGAGGAAAACTG	A	A11105589G	LDLR	NM_001195800.2(LDLR):c.314-1803_314-1792del	coding	Pathogenic
19	11105586	ACG	CA	A11105586C	LDLR	NM_001195800.2(LDLR):c.314-1806_314-1804delinsCA	coding	Pathogenic
19	11105586	ACG	CGGTATGGACTGCA	A11105586C	LDLR	NM_000527.4(LDLR):c.680_682delinsCGGTATGGACTGCA:p.Asp227fs	coding	Pathogenic
19	11105587	C	CGGACAAATCTGA	A11105589G	LDLR	NM_000527.4(LDLR):c.682_683insGACAAATCTGAG:p.Glu228delinsGlyGlnIleTer	coding	Pathogenic
19	11105587	C	CTGAG	G11105588T	LDLR	NM_000527.5(LDLR):c.681_682insTGAG:p.Glu228Ter	coding	Pathogenic
19	11105587	CG	C	G11105588A	LDLR	NM_000527.4(LDLR):c.682del:p.Glu228fs	coding	Pathogenic
19	11105588	GA	G	A11105589G	LDLR	NM_001195800.2(LDLR):c.314-1803del	coding	Pathogenic
19	11105596	CTGCGGTATGGGCGGGGCCAGGG	C	C11105599G	LDLR	NM_000527.5(LDLR):c.693_694+20del	coding	Pathogenic
19	11105597	TGCGGTATGGGCGGGGCCAGGGTGGGGGCGGGGCGTCCTATCACCTGTCCCTGGGCTCCCCCAGGTGTGGGACATGCAGTGATTTAGGTGCCGAAGTGGATTTCCAACAACATGCCAAGAAAGTATTCCCATTTCATGTTTGTTTCTTTTTTTTCTTTTCTTTCTTTATTTTGTTTTTGAGATGGAGTCTCACTCTGTGATTTTTTTCATCTCTAAATTTCCTACATCCATATGGCCACCATGAGGCCCCAGGCTGGCCGATGGTTGCTGTTAGCTTATTGGGAAATCACTGTTTGGAAGGTGCTGGTTGTTTTTTGTTGTTTGTTGTTTTTGTTTTTGTTTTTGTTTTGAGACGGAGTCTCGCTCTGTCGCCAGGGTGGAGTGCAGTGGCGCGATCAGCTCACTGCAACCTCCGCTTCCTGGGTTCAAGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCGCGGATTACAGGCATGTGCCACCACCTCCGGCTATTTTTTTTTCTATTTAGTAGAGATGGGGTTTCACCATGTTAGTCAGGCTGGTCATGAACTCTTGACCTCAGGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGCACTGCTGCACCCAGCCTTTTTTTGTTTTTTTGAGACAGGGTCTTGCTGTCACCCAGGTTGAAGTAAGGTGGCACGATTATGGCTCACTGCGGCCTTGATCTCCTTGGCTCAAGCGATCCTCTCACTTCAGCCTCTCAAGCAGTTGGAACCACAGGCTGTACCACCAAGCCTGGCCAATTTTTTTGTACAGACACAGGCTGGTCTTGAACTCCTGGGCTCAAGCAATCCTCCTGCCTTGGCCTCCCAAAGTGCTGGGATTCCAGGCATGAGCCGCTGCACCCGGCAAAAGGCCCTGCTTCTTTTTCTCTGGTTGTCTCTTCTTGAGAAAATCAACACACTCTGTCCTGTTTTCCA	T	G11105600T	LDLR	NM_000527.5(LDLR):c.692_693GC[1]:p.Ala232fs	coding	Pathogenic
19	11106557	TTTTCCAGCTG	T	T11106559G	LDLR	NM_000527.5(LDLR):c.695-6_698del	noncoding	Pathogenic
19	11106563	AGCTGTGGCCACCTGTCGCCCTGACGAATTCCAGTGCTCTGATGGAAACTGCATCCATGGCAGCCGGCAGTGTGACCGGGAATATGACTGCAAGGACATGAGCGATGAAGTTGGCTGCGTTAATGGTGAGCGCTGGCCATCTGGTTTTCCATCCCCCATTCTCTGTGCCTTGCTGCTTGCAAATGATTTGTGAAGCCAGAGGGCGCTTCCCTGGTCAGCTCTGCACCAGCTGTGCGTCTGTGGGCAAGTGACTTGACTTCTCAGAGCCTCACTTCCTTTTGTTTTGAGACGGAGTCTCGCTCTGACACCCAGGCTGGAGTGCTGTGGCACAATCACAGCTCACGGCAGCCTCTGCCTCTGATGTCCAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGAGATTAAAGGCGTATACCACCACGCCCGGCTAATTTTTTGTATTTTTATTAGAGACAGGGTTTCTCCATGTTGGCCAGGCTGGTCTTGAACTCCTGGTCTCAGGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTAGGATTACAGGTGTGAGCCACTGCGCCAGGCCTAATTTTTTTGTATTTTTAGTAGAGATGCGGTTTTGCCATATTGCCCAGGCTGGTCTCGAACTCCTGGGCTCAAGCGATCTGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCACAAACCACCGTGCCCGACGCGTTTTCTTAATGAATCCATTTGCATGCGTTCTTATGTGAATAAACTATTATATGAATGAGTGCCAAGCAAACTGAGGCTCAGACACACCTGACCTTCCTCCTTCCTCTCTCTGGCTCTCACAGTGACACTCTGCGAGGGACCCAACAAGTTCAAGTGTCACAGCGGCGAATGCATCACCCTGGACAAAGTCTGCAACATGGCTAGAGACTGCCGGGACTGGTCAGATGAACCCATCAAAGAGTGCGG	A	G11106564T	LDLR	GRCh38/hg38_19p13.2(chr19:11106564-11107515)x1	noncoding	Pathogenic
19	11106564	GCTGTGGCCAC	G	G11106569C	LDLR	NM_000527.5(LDLR):c.699_708del:p.Thr235fs	coding	Pathogenic
19	11106570	GC	G	C11106572A	LDLR	NM_000527.4(LDLR):c.702del:p.Thr235fs	coding	Pathogenic
19	11106572	C	CA	C11106574A	LDLR	NM_000527.5(LDLR):c.703dup:p.Thr235fs	coding	Pathogenic
19	11106573	A	AC	T11106576C	LDLR	NM_000527.5(LDLR):c.705dup:p.Cys236fs	coding	Pathogenic
19	11106577	G	GT	C11106579T	LDLR	NM_000527.5(LDLR):c.708dup:p.Arg237fs	coding	Pathogenic
19	11106605	TG	T	G11106607A	LDLR	NM_001195800.2(LDLR):c.314-785del	coding	Pathogenic
19	11106620	T	TG	C11106623G	LDLR	NM_000527.5(LDLR):c.752dup:p.Ser252fs	coding	Pathogenic
19	11106643	AAT	A	A11106646G	LDLR	NM_001195800.2(LDLR):c.314-746_314-745del	coding	Pathogenic
19	11106650	CT	C	T11106651G	LDLR	NM_000527.4(LDLR):c.781del:p.Cys261fs	coding	Pathogenic
19	11106659	CATGA	C	A11106660G	LDLR	NM_000527.5(LDLR):c.790_793del:p.Met264fs	coding	Pathogenic
19	11106660	AT	A	T11106661G	LDLR	NM_000527.5(LDLR):c.791del:p.Met264fs	coding	Pathogenic
19	11106665	CGATGA	C	G11106666A	LDLR	NM_000527.4(LDLR):c.796_800del:p.Asp266fs	coding	Pathogenic
19	11106665	CGATG	C	G11106666A	LDLR	NM_000527.5(LDLR):c.796_799del:p.Asp266fs	coding	Pathogenic
19	11106682	TTAATGGTGAGCGCTGGCCATCTGGTTTTCCATCCCCCATTCTCTGTGCCTTGCTGCTTGCAAATGATTTGTGAAGCCAGAGGGCGCTTCCCTGGTCAGCTCTGCACCAGCTGTGCGTCTGTGGGCAAGTGACTTGACTTCTCAGAGCCTCACTTCCTTTTGTTTTGAGACGGAGTCTCGCTCTGACACCCAGGCTGGAGTGCTGTGGCACAATCACAGCTCACGGCAGCCTCTGCCTCTGATGTCCAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGAGATTAAAGGCGTATACCACCACGCCCGGCTAATTTTTTGTATTTTTATTAGAGACAGGGTTTCTCCATGTTGGCCAGGCTGGTCTTGAACTCCTGGTCTCAGGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTAGGATTACAGGTGTGAGCCACTGCGCCAGGCCTAATTTTTTTGTATTTTTAGTAGAGATGCGGTTTTGCCATATTGCCCAGGCTGGTCTCGAACTCCTGGGCTCAAGCGATCTGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCACAAACCACCGTGCCCGACGCGTTTTCTTAATGAATCCATTTGCATGCGTTCTTATGTGAATAAACTATTATATGAATGAGTGCCAAGCAAACTGAGGCTCAGACACACCTGACCTTCCTCCTTCCTCTCTCTGGCTCTCACAG	T	A11106684G	LDLR	NM_000527.5(LDLR):c.814_818del:p.Asn272fs	coding	Pathogenic
19	11106683	TAATG	T	A11106684G	LDLR	NM_000527.5(LDLR):c.814_817del:p.Val271_Asn272insTer	coding	Pathogenic
19	11107391	GTGACACTC	G	A11107394C	LDLR	NM_000527.5(LDLR):c.820_827del:p.Thr274fs	coding	Pathogenic
19	11107393	GA	G	A11107394C	LDLR	NM_001195798.2(LDLR):c.820del:p.Thr274fs	coding	Pathogenic/Likely_pathogenic
19	11107396	ACT	A	C11107399G	LDLR	NM_001195798.2(LDLR):c.823_824CT[1]:p.Cys276fs	coding	Pathogenic
19	11107411	C	CAACAAGTTCA	G11107423A	LDLR	NM_000527.4(LDLR):c.839_848dup:p.Cys284fs	coding	Pathogenic
19	11107414	C	CT	A11107415T	LDLR	NM_000527.4(LDLR):c.840_841insT:p.Lys281Ter	coding	Pathogenic
19	11107417	G	GGGAC	T11107418G	LDLR	NM_000527.5(LDLR):c.843_844insGGAC:p.Phe282fs	coding	Pathogenic
19	11107432	CG	C	G11107434C	LDLR	NM_000527.4(LDLR):c.860del:p.Gly287fs	coding	Pathogenic
19	11107438	AT	A	T11107439G	LDLR	NM_000527.4(LDLR):c.865del:p.Cys289fs	coding	Pathogenic/Likely_pathogenic
19	11107445	AC	A	C11107448T	LDLR	NM_000527.4(LDLR):c.874del:p.Leu292fs	coding	Pathogenic
19	11107448	C	CT	G11107450T	LDLR	NM_000527.5(LDLR):c.875dup:p.Asp293fs	coding	Pathogenic
19	11107449	TG	T	G11107451A	LDLR	NM_000527.4(LDLR):c.877del:p.Asp293fs	coding	Pathogenic
19	11107453	CAA	C	A11107455G	LDLR	NM_000527.5(LDLR):c.881_882del:p.Lys294fs	coding	Pathogenic
19	11107455	AAG	A	A11107456T	LDLR	NM_000527.4(LDLR):c.882_883del:p.Lys294fs	coding	Pathogenic
19	11107456	AG	A	G11107457T	LDLR	NM_000527.5(LDLR):c.883del:p.Val295fs	coding	Pathogenic
19	11107457	GT	G	T11107458C	LDLR	NM_000527.4(LDLR):c.884del:p.Val295fs	coding	Pathogenic
19	11107461	GCA	AGC	G11107461A	LDLR	NM_000527.5(LDLR):c.887_889delinsAGC:p.Cys296_Asn297delinsTer	coding	Pathogenic
19	11107462	CA	C	A11107464C	LDLR	NM_000527.4(LDLR):c.890del:p.Asn297fs	coding	Pathogenic
19	11107469	GC	G	C11107470T	LDLR	NM_000527.4(LDLR):c.896del:p.Ala299fs	coding	Pathogenic
19	11107472	AGAGACTGCCGG	A	G11107475C	LDLR	NM_000527.5(LDLR):c.901_911del:p.Asp301fs	coding	Pathogenic
19	11107479	G	GCCGGGACTGGTCAGATGAA	C11107501G	LDLR	NM_000527.4(LDLR):c.908_926dup:p.Ile310_Lys311insGlyLeuValArgTer	coding	Pathogenic
19	11107481	CG	C	G11107484A	LDLR	NM_000527.5(LDLR):c.910del:p.Asp304fs	coding	Pathogenic
19	11107488	G	GGTCA	A11107494T	LDLR	NM_000527.5(LDLR):c.916_919dup:p.Asp307fs	coding	Pathogenic
19	11107497	AACCCATC	A	C11107499A	LDLR	NM_000527.4(LDLR):c.925_931delCCCATCA:p.Pro309Lysfs	coding	Pathogenic
19	11107501	C	CA	T11107503A	LDLR	NM_000527.4(LDLR):c.928dup:p.Ile310fs	coding	Pathogenic
19	11107504	CAA	C	A11107506G	LDLR	NM_000527.5(LDLR):c.932_933del:p.Lys311fs	coding	Pathogenic
19	11107504	CA	C	A11107507G	LDLR	NM_000527.4(LDLR):c.933del:p.Glu312fs	coding	Pathogenic
19	11107506	AAG	A	A11107509T	LDLR	NM_001195798.2(LDLR):c.933_934AG[1]:p.Glu312fs	coding	Pathogenic
19	11107506	AAGAGTGC	GAGAGTGG	A11107506G	LDLR	NM_000527.4(LDLR):c.932_939delinsGAGAGTGG:p.Lys311_Cys313delinsArgGluTrp	coding	Pathogenic
19	11107509	AGTGCG	A	C11107513A	LDLR	NM_000527.4(LDLR):c.939_940+3del	coding	Pathogenic
19	11107509	AGTGCGGTGAGTCTCG	A	G11107514A	LDLR	NM_000527.4(LDLR):c.940_940+14del	coding	Pathogenic
19	11107512	GC	AT	G11107512A	LDLR	NM_000527.5(LDLR):c.938_939delinsAT:p.Cys313Tyr	coding	Pathogenic/Likely_pathogenic
19	11107513	C	CG	T11107516G	LDLR	NM_000527.4(LDLR):c.940+1dup	coding	Pathogenic
19	11110652	GGACCAACGAATGCTTGGACAACAACGGCGGCTGTTCCCACGTCTGCAAT	G	A11110657T	LDLR	NM_000527.5(LDLR):c.946_994del:p.Asn316fs	coding	Pathogenic
19	11110658	AC	A	C11110659G	LDLR	NM_000527.4(LDLR):c.948del:p.Asn316fs	coding	Pathogenic
19	11110659	C	CG	A11110661G	LDLR	NM_000527.4(LDLR):c.949dup:p.Glu317fs	coding	Pathogenic
19	11110660	GA	G	A11110662T	LDLR	NM_000527.4(LDLR):c.951del:p.Glu317fs	coding	Pathogenic
19	11110669	GACA	G	A11110675G	LDLR	NM_001195798.2(LDLR):c.961_963AAC[1]:p.Asn322del	coding	Pathogenic/Likely_pathogenic
19	11110671	CAA	C	A11110672C	LDLR	NM_000527.5(LDLR):c.961_962del:p.Asn321fs	coding	Pathogenic
19	11110671	CA	C	A11110673C	LDLR	NM_000527.4(LDLR):c.962del:p.Asn321fs	coding	Benign
19	11110676	AC	A	C11110677G	LDLR	NM_000527.5(LDLR):c.966del:p.Asn322fs	coding	Pathogenic
19	11110677	CG	C	G11110679C	LDLR	NM_000527.4(LDLR):c.968del:p.Gly323fs	coding	Pathogenic
19	11110679	GC	G	C11110680G	LDLR	NM_000527.4(LDLR):c.969del:p.Gly324fs	coding	Pathogenic
19	11110680	CG	C	G11110682C	LDLR	NM_000527.4(LDLR):c.971del:p.Gly324fs	coding	Pathogenic
19	11110687	TC	T	C11110690A	LDLR	NM_000527.5(LDLR):c.979del:p.His327fs	coding	Pathogenic
19	11110690	C	CA	C11110692A	LDLR	NM_000527.5(LDLR):c.980dup:p.His327fs	coding	Pathogenic
19	11110707	TAAGATCGGCTACG	GCA	T11110707G	LDLR	NM_001195798.2(LDLR):c.996_1009delinsGCA:p.Lys333fs	coding	Pathogenic
19	11110718	AC	A	C11110719G	LDLR	NM_001195798.2(LDLR):c.1008del:p.Gly335_Tyr336insTer	coding	Pathogenic
19	11110727	T	TG	T11110729G	LDLR	NM_000527.5(LDLR):c.1017dup:p.Cys340fs	coding	Pathogenic
19	11110730	GC	G	C11110734G	LDLR	NM_000527.5(LDLR):c.1023del:p.Asp342fs	coding	Pathogenic
19	11110730	GC	TG	G11110730T	LDLR	NM_000527.5(LDLR):c.1019_1020delinsTG:p.Cys340Leu	coding	Pathogenic/Likely_pathogenic
19	11110740	CT	C	T11110742C	LDLR	NM_000527.4(LDLR):c.1031del:p.Phe344fs	coding	Pathogenic
19	11110744	C	CA	G11110746A	LDLR	NM_000527.5(LDLR):c.1034dup:p.Leu346fs	coding	Pathogenic
19	11110751	TG	T	G11110753C	LDLR	NM_000527.4(LDLR):c.1042del:p.Ala348fs	coding	Pathogenic
19	11110753	GC	G	C11110756A	LDLR	NM_000527.4(LDLR):c.1045del:p.Gln349fs	coding	Pathogenic/Likely_pathogenic
19	11110753	G	GA	C11110754A	LDLR	NM_000527.5(LDLR):c.1042_1043insA:p.Ala348fs	coding	Pathogenic
19	11110753	G	GC	A11110757C	LDLR	NM_000527.5(LDLR):c.1045dup:p.Gln349fs	coding	Pathogenic
19	11110756	CA	C	A11110757G	LDLR	NM_000527.4(LDLR):c.1046del:p.Gln349fs	coding	Pathogenic
19	11110756	C	CA	G11110758A	LDLR	NM_000527.4(LDLR):c.1046dup:p.Arg350fs	coding	Pathogenic
19	11110757	A	AGCGAAGAT	G11110772A	LDLR	NM_000527.5(LDLR):c.1047_1054GCGAAGAT[3]:p.Ile355fs	coding	Pathogenic
19	11110764	ATGCGAAGG	A	C11110767A	LDLR	NM_000527.5(LDLR):c.1056_1060+3del	coding	Pathogenic
19	11110764	ATGCGAAGGTGATTCCCGGGTGGGACTGAGCCCTGGGCCCCCTCTGCGCTTCCTGACATGGCAACCAAACCCCTCATGCCTCAGTTTCCCCATCTGTTAAGTGTGCTTGAAAGCAGTTAGGAGGGTTTCATGAGATTCCACCTGCATGGAAAACTATCATTGGCTGGCCAGAGTTTCTTGCCTCTGGGGATTAGTAATTAAGAAATTTCAGGCCGGGTGCGTAATCCCTGTAATCCCAACACCTTGGGACGCCGAGGCGGGCAGATCACCTGAGGTCGGGAGTTCCAGACCAGCCTGACCAACATGGAGAAACCCCGTCTCTACTAAAAATACAAAATTAGCCGGGCTTGGTGGTGCATGCCTATAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCACTTGAACCTGGGAGGTGGAGGTTGTGGTGAGCCAAGATCGTGCCATTGCACTCCAGCCTGGGCAACAAGAGTGAAACTCCATCCAAAAAAAAAAGAAAAGAAAAGAAAAAAAAGAAAAGAAATTTCAGCTGACACAGCTTCACACTCTTGGTTGGGTTCCCGTGGTGAATGATGAGGTCAGGTGATGACTGGGGATGACACCTGGCTGTTTCCTTGATTACATCTCCCGAGAGGCTGGGCTGTCTCCTGGCTGCCTTCGAAGGTGTGGGTTTTGGCCTGGGCCCCATCGCTCCGTCTCTAGCCATTGGGGAAGAGCCTCCCCACCAAGCCTCTTTCTCTCTCTTCCAGATAT	A	T11110765C	LDLR	NM_000527.5(LDLR):c.1054_1064del:p.Cys352fs	coding	Pathogenic
19	11111514	A	AT	A11111516T	LDLR	NM_000527.5(LDLR):c.1062dup:p.Ile355fs	coding	Pathogenic
19	11111516	A	AT	C11111518T	LDLR	NM_000527.4(LDLR):c.1064dup:p.Asp356fs	coding	Pathogenic
19	11111519	GA	G	A11111520T	LDLR	NM_000527.4(LDLR):c.1067del:p.Asp356fs	coding	Pathogenic
19	11111520	A	ATGAG	T11111527A	LDLR	NM_000527.5(LDLR):c.1070_1073dup:p.Cys358Ter	coding	Pathogenic
19	11111522	GA	G	A11111523G	LDLR	NM_000527.4(LDLR):c.1070del:p.Glu357fs	coding	Pathogenic
19	11111537	GA	G	A11111538C	LDLR	NM_001195798.2(LDLR):c.1085del:p.Asp362fs	coding	Pathogenic
19	11111552	CTCTGC	GT	C11111552G	LDLR	NM_000527.5(LDLR):c.1099_1104delinsGT:p.Leu367fs	coding	Pathogenic
19	11111565	T	TGTGG	G11111567T	LDLR	NM_000527.5(LDLR):c.1113_1114insTGGG:p.Glu372fs	coding	Pathogenic
19	11111568	A	AGGGT	C11111575G	LDLR	NM_000527.5(LDLR):c.1118_1121dup:p.Tyr375fs	coding	Pathogenic/Likely_pathogenic
19	11111571	G	GTGGC	A11111577G	LDLR	NM_000527.5(LDLR):c.1120_1123dup:p.Tyr375fs	coding	Pathogenic
19	11111576	T	TC	A11111577C	LDLR	NM_000527.5(LDLR):c.1123_1124insC:p.Tyr375fs	coding	Pathogenic
19	11111582	TG	T	G11111583C	LDLR	NM_000527.4(LDLR):c.1130del:p.Cys377fs	coding	Pathogenic
19	11111585	CAGTGTGAGGAAGGCTTCCAGCTGGACCCCCACACGAAGGCCTGCAAGGCTGTGGGTGAGCACGGGA	C	T11111588G	LDLR	NM_000527.4(LDLR):c.1135_1186+14del	coding	Pathogenic
19	11111610	A	AC	A11111616C	LDLR	NM_000527.4(LDLR):c.1162dup:p.His388fs	coding	Pathogenic
19	11111610	A	ACCCCC	A11111616C	LDLR	NM_000527.4(LDLR):c.1158_1162dup:p.His388fs	coding	Pathogenic
19	11111610	AC	A	C11111615A	LDLR	NM_000527.4(LDLR):c.1162del:p.His388fs	coding	Pathogenic
19	11111624	GC	G	C11111626T	LDLR	NM_000527.4(LDLR):c.1173del:p.Cys392fs	coding	Pathogenic
19	11111626	C	CT	G11111628T	LDLR	NM_000527.5(LDLR):c.1174dup:p.Cys392fs	coding	Pathogenic
19	11111629	CA	C	A11111631G	LDLR	NM_000527.4(LDLR):c.1178del:p.Lys393fs	coding	Pathogenic
19	11111634	CT	C	T11111635G	LDLR	NM_000527.4(LDLR):c.1182del:p.Val395fs	coding	Pathogenic
19	11111634	CTG	C	T11111637G	LDLR	NM_001195798.2(LDLR):c.1182_1183TG[1]:p.Val395fs	coding	Pathogenic
19	11111637	TG	T	G11111640T	LDLR	NM_000527.4(LDLR):c.1186+1del	coding	Pathogenic
19	11113276	AG	A	G11113278C	LDLR	NM_000527.4(LDLR):c.1187del	noncoding	Pathogenic
19	11113294	C	CT	C11113297T	LDLR	NM_000527.5(LDLR):c.1205dup:p.Phe403fs	coding	Pathogenic
19	11113294	CTT	C	T11113295C	LDLR	NM_000527.4(LDLR):c.1204_1205del:p.Phe402fs	coding	Pathogenic
19	11113295	TTC	T	C11113297T	LDLR	NM_000527.5(LDLR):c.1206_1207del:p.Phe403fs	coding	Pathogenic/Likely_pathogenic
19	11113297	CT	C	T11113299C	LDLR	NM_000527.4(LDLR):c.1208del:p.Phe403fs	coding	Pathogenic
19	11113299	TC	T	C11113300A	LDLR	NM_000527.4(LDLR):c.1209del:p.Phe403fs	coding	Pathogenic
19	11113323	AG	A	G11113324A	LDLR	NM_000527.4(LDLR):c.1233del:p.Lys411_Met412insTer	coding	Pathogenic
19	11113332	T	TGGACC	G11113341C	LDLR	NM_000527.5(LDLR):c.1245_1249dup:p.Ser417fs	coding	Pathogenic
19	11113359	TC	T	C11113363A	LDLR	NM_000527.4(LDLR):c.1272del:p.Asn425fs	coding	Pathogenic
19	11113374	AC	A	C11113375G	LDLR	NM_000527.5(LDLR):c.1284del:p.Asn428fs	coding	Pathogenic
19	11113376	GTGGTCGCTCTGGACACGGAGGTGGCCAGCAATAGAATCTAC	G	G11113382T	LDLR	NM_000527.5(LDLR):c.1291_1331del:p.Val430_Ala431insTer	coding	Pathogenic
19	11113392	CG	C	G11113394A	LDLR	NM_000527.4(LDLR):c.1303del:p.Glu435fs	coding	Pathogenic
19	11113394	G	GAGGTGGTCGCTCTGGACACGT	C11113401T	LDLR	NM_000527.5(LDLR):c.1309_1310insTCGCTCTGGACACGTAGGTGG:p.Ala437delinsValAlaLeuAspThrTer	coding	Pathogenic
19	11113395	AG	A	G11113397T	LDLR	NM_000527.4(LDLR):c.1306del:p.Val436fs	coding	Pathogenic
19	11113398	T	TG	C11113401G	LDLR	NM_000527.5(LDLR):c.1309dup:p.Ala437fs	coding	Pathogenic
19	11113420	GT	G	T11113421C	LDLR	NM_000527.4(LDLR):c.1330del:p.Ser444fs	coding	Pathogenic
19	11113425	AC	A	C11113427T	LDLR	NM_000527.4(LDLR):c.1336del:p.Leu446fs	coding	Pathogenic
19	11113433	CA	C	A11113434G	LDLR	NM_000527.4(LDLR):c.1343del:p.Gln448fs	coding	Pathogenic
19	11113447	CA	C	A11113448G	LDLR	NM_000527.5(LDLR):c.1357del:p.Ser453fs	coding	Pathogenic
19	11113536	AC	A	C11113539A	LDLR	NM_000527.4(LDLR):c.1363del:p.Gln455fs	coding	Pathogenic
19	11113539	CAGCTTGACAG	C	T11113543C	LDLR	NM_000527.5(LDLR):c.1367_1376del:p.Leu456fs	coding	Pathogenic
19	11113540	AG	A	G11113541C	LDLR	NM_000527.4(LDLR):c.1365del:p.Gln455fs	coding	Pathogenic
19	11113544	T	TGACA	G11113551C	LDLR	NM_000527.5(LDLR):c.1371_1374dup:p.Ala459fs	coding	Pathogenic
19	11113547	CAG	C	A11113550C	LDLR	NM_001195798.2(LDLR):c.1372_1373AG[1]:p.Arg458fs	coding	Pathogenic
19	11113551	GCCCA	G	C11113553G	LDLR	NM_000527.5(LDLR):c.1377_1380del:p.His460fs	coding	Pathogenic
19	11113555	ACGGCGTCTCTTCCTA	CAGCT	A11113555C	LDLR	NM_001195798.2(LDLR):c.1379_1394delinsCAGCT:p.His460fs	coding	Pathogenic
19	11113555	ACGGCGTCTCTTCCTATGACACCG	CAGCTTGACCCGC	A11113555C	LDLR	NM_000527.5(LDLR):c.1379_1402delinsCAGCTTGACCCGC:p.His460_Val468delinsProAlaTer	coding	Pathogenic
19	11113555	ACGGCGTCTCTTCCTATG	CAGCTTA	A11113555C	LDLR	NM_000527.5(LDLR):c.1379_1396delinsCAGCTTA:p.His460_Asp466delinsProAlaTer	coding	Pathogenic
19	11113556	CG	C	G11113558C	LDLR	NM_000527.5(LDLR):c.1382del:p.Gly461fs	coding	Pathogenic
19	11113566	TC	T	C11113568T	LDLR	NM_001195798.2(LDLR):c.1392del:p.Tyr465fs	coding	Pathogenic
19	11113568	CT	C	T11113569A	LDLR	NM_000527.4(LDLR):c.1393del:p.Tyr465fs	coding	Pathogenic
19	11113589	AG	GGACAT	A11113589G	LDLR	NM_001195798.2(LDLR):c.1413_1414delinsGGACAT:p.Gln474fs	coding	Pathogenic
19	11113590	G	GACAT	C11113595A	LDLR	NM_000527.5(LDLR):c.1415_1418dup:p.Gln474fs	coding	Pathogenic/Likely_pathogenic
19	11113599	GC	A	G11113599A	LDLR	NM_000527.5(LDLR):c.1423_1424delinsA:p.Ala475fs	coding	Pathogenic
19	11113599	G	GC	G11113605C	LDLR	NM_000527.5(LDLR):c.1428dup:p.Asp477fs	coding	Pathogenic
19	11113607	CG	C	G11113610C	LDLR	NM_000527.4(LDLR):c.1434del:p.Leu479fs	coding	Pathogenic
19	11113610	GCTGGCTGTGGA	G	C11113615A	LDLR	NM_000527.5(LDLR):c.1439_1449del:p.Ala480fs	coding	Pathogenic
19	11113622	CT	C	T11113623G	LDLR	NM_000527.5(LDLR):c.1447del:p.Trp483fs	coding	Pathogenic
19	11113631	CA	C	A11113632G	LDLR	NM_000527.4(LDLR):c.1456del:p.Ser486fs	coding	Pathogenic
19	11113633	G	GCAACATCTACTGGA	C11113649A	LDLR	NM_000527.4(LDLR):c.1459_1472dup:p.Asp492fs	coding	Pathogenic
19	11113636	A	AC	A11113638C	LDLR	NM_000527.4(LDLR):c.1461dup:p.Ile488fs	coding	Pathogenic
19	11113638	A	AC	T11113639C	LDLR	NM_000527.4(LDLR):c.1462_1463insC:p.Ile488fs	coding	Pathogenic
19	11113646	G	GA	C11113648A	LDLR	NM_000527.5(LDLR):c.1471dup:p.Thr491fs	coding	Pathogenic
19	11113649	CG	C	G11113650A	LDLR	NM_000527.4(LDLR):c.1474del:p.Asp492fs	coding	Pathogenic
19	11113651	ACT	A	C11113654G	LDLR	NM_001195798.2(LDLR):c.1476_1477CT[1]:p.Ser493fs	coding	Pathogenic/Likely_pathogenic
19	11113653	TCT	AGAGACA	T11113653A	LDLR	NM_000527.5(LDLR):c.1477_1479delinsAGAGACA:p.Ser493fs	coding	Pathogenic
19	11113653	TC	T	C11113654T	LDLR	NM_000527.4(LDLR):c.1478del:p.Ser493fs	coding	Pathogenic
19	11113660	TGG	T	G11113662C	LDLR	NM_000527.5(LDLR):c.1486_1487del:p.Gly496fs	coding	Pathogenic/Likely_pathogenic
19	11113665	AC	A	C11113666T	LDLR	NM_000527.5(LDLR):c.1490del:p.Thr497fs	coding	Pathogenic
19	11113666	CTG	C	G11113668C	LDLR	NM_000527.5(LDLR):c.1492_1493del:p.Val498fs	coding	Pathogenic
19	11113668	GTC	G	C11113672G	LDLR	NM_001195798.2(LDLR):c.1494_1495CT[1]:p.Ser499fs	coding	Pathogenic/Likely_pathogenic
19	11113672	CTG	C	G11113674T	LDLR	NM_000527.5(LDLR):c.1498_1499del:p.Val500fs	coding	Pathogenic
19	11113677	G	GC	G11113679C	LDLR	NM_000527.5(LDLR):c.1502dup:p.Asp502fs	coding	Pathogenic
19	11113683	ACCAAGGGCGTGAAGAGGAAAACGTTATTCAGGGAGAACGGCTCCAAG	A	G11113692C	LDLR	NM_000527.5(LDLR):c.1516_1562del:p.Val506fs	coding	Pathogenic
19	11113698	A	CTGAAT	A11113698C	LDLR	NM_000527.5(LDLR):c.1522delinsCTGAAT:p.Arg508fs	coding	Pathogenic
19	11113704	AC	A	C11113705G	LDLR	NM_000527.4(LDLR):c.1529del:p.Thr510fs	coding	Pathogenic
19	11113705	CG	C	G11113706T	LDLR	NM_000527.4(LDLR):c.1530del:p.Leu511fs	coding	Pathogenic
19	11113708	T	TA	T11113710A	LDLR	NM_000527.5(LDLR):c.1533dup:p.Phe512fs	coding	Pathogenic
19	11113722	GGCTCCAA	G	T11113725C	LDLR	NM_000527.5(LDLR):c.1549_1555del:p.Ser517fs	coding	Pathogenic
19	11113741	TC	T	C11113742G	LDLR	NM_000527.4(LDLR):c.1566del:p.Ile522fs	coding	Pathogenic
19	11113742	CGTG	C	T11113747A	LDLR	NM_001195798.2(LDLR):c.1568_1570TGG[1]:p.Val524del	coding	Pathogenic
19	11113743	GTGGTGGATCC	G	G11113746T	LDLR	NM_000527.4(LDLR):c.1570_1579del:p.Val524fs	coding	Pathogenic
19	11113745	G	GGTGGATCCTGTTCATGGGT	C11113766T	LDLR	NM_000527.4(LDLR):c.1571_1586+3dup	coding	Pathogenic
19	11113745	GGT	G	T11113747G	LDLR	NM_000527.4(LDLR):c.1571_1572del:p.Val524fs	coding	Pathogenic
19	11113747	TGGATCCTGTTCATGGGTGC	T	G11113749T	LDLR	NM_000527.4(LDLR):c.1573_1586+5del	coding	Pathogenic
19	11116088	CACCAGCTTCATGTACTGGACTGACTGGGGAACTCCCG	C	A11116089C	LDLR	NM_000527.4(LDLR):c.1587-5_1618del	noncoding	Pathogenic
19	11116092	AGCTTCATGTACTGGACTGACTGGGGAACTCCCGCCAAGATCAAGAAAGGGGGCCTGAATGGTGTGGACATCTACTCGCTGGTGACTGAAAACATTCAGTGGCCCAATGGCATCACCCTAGGTATGTTCGCAGGACAGCCGTCCCAGCCAGGGCCGGGCACAGGCTGGAGGACAGACGGGGGTTGCCAGGTGGCTCTGGGACAAGCCCAAGCTGCTCCCTGAAGGTTTCCCTCTTTCTTTTCTTTGTTTTTTCTTTTTTTGAGATGAGGTCTTGGTCTGTCACCCAGGCTGGAGTGCACTGGCGCAATCGTAGCTCACTGCAGCCTCCACCTCCCAGGCTCAAGTGATCCTCCTGCCTCACCCTCCTGAGTAGCTGAGATTACAGACACGTGCCACCACGGCAGACTAATTTTATTTTATTTTTGGGAAGAGACAAAGTCTTGTTATGTTGGCCTGGCTGGTCTCAAACTCAGGGTGCAAGCGATCCTCCCGCCTCAGCCTTCCAAACTGCTGGGATTACAGGCGTGGGCCACCGTACCCAGCCTCCTTGAAGTTTTTCTGACCTGCAACTCCCCTACCTGCCCATTGGAGAGGGCGTCACAGGGGAGGGGTTCAGGCTCACATGTGGTTGGAGCTGCCTCTCCAGGTGCTTTTCTGCTAGGTCCCTGGCAGGGGGTCTTCCTGCCCGGAGCAGCGTGGCCAGGCCCTCAGGACCCTCTGGGACTGGCATCAGCACGTGACCTCTCCTTATCCACTTGTGTGTCTAGATCTCCTCAGTGGCCGCCTCTACTGGGTTGACTCCAAACTTCACTCCATCTCAAGCATCGATGTCAACGGGGGCAACCGGAAGACCATCTTGGAGGATGAAAAGAGGCTGGCCCACCCCTTCTCCTTGGCCGTCTTTGAGG	A	G11116093T	LDLR	GRCh38/hg38_19p13.2(chr19:11116093-11116999)x1	noncoding	Pathogenic
19	11116093	GCTTCA	G	C11116094T	LDLR	NM_000527.5(LDLR):c.1587_1591del:p.Phe530fs	coding	Pathogenic
19	11116101	T	TAC	T11116104A	LDLR	NM_000527.4(LDLR):c.1595_1596dup:p.Trp533fs	coding	Pathogenic
19	11116113	TG	T	G11116117A	LDLR	NM_000527.4(LDLR):c.1610del:p.Gly537fs	coding	Pathogenic
19	11116125	G	GC	A11116128C	LDLR	NM_000527.4(LDLR):c.1620dup:p.Lys541fs	coding	Pathogenic
19	11116134	AAGAAAGGGGGCCTGAATGGTGTGG	A	G11116136C	LDLR	NM_000527.5(LDLR):c.1629_1652del:p.Lys543_Asp551delinsAsn	coding	Pathogenic/Likely_pathogenic
19	11116136	GA	G	A11116139G	LDLR	NM_000527.4(LDLR):c.1632del:p.Gly546fs	coding	Pathogenic
19	11116138	AAG	A	A11116139G	LDLR	NM_000527.4(LDLR):c.1632_1633del:p.Gly546fs	coding	Pathogenic
19	11116147	TGAATGGTGTGGA	AGCGTCATCTTCCTGAC	T11116147A	LDLR	NM_000527.5(LDLR):c.1640_1652delinsAGCGTCATCTTCCTGAC:p.Leu547fs	coding	Pathogenic
19	11116151	T	TC	G11116152C	LDLR	NM_000527.5(LDLR):c.1644_1645insC:p.Gly549fs	coding	Pathogenic
19	11116152	G	GC	G11116153C	LDLR	NM_000527.5(LDLR):c.1645_1646insC:p.Gly549fs	coding	Pathogenic
19	11116153	G	GT	G11116155T	LDLR	NM_000527.5(LDLR):c.1647dup:p.Val550fs	coding	Pathogenic
19	11116154	TG	T	G11116155T	LDLR	NM_000527.5(LDLR):c.1648del:p.Val550fs	coding	Pathogenic
19	11116156	TG	T	G11116158A	LDLR	NM_000527.4(LDLR):c.1651del:p.Asp551fs	coding	Pathogenic
19	11116161	AT	A	T11116162C	LDLR	NM_000527.4(LDLR):c.1655del:p.Ile552fs	coding	Pathogenic
19	11116166	CTC	ATACTTTCA	C11116166A	LDLR	NM_000527.5(LDLR):c.1659_1661delinsATACTTTCA:p.Tyr553_Ser554delinsTer	coding	Pathogenic
19	11116168	C	CGCTGGTGA	C11116177G	LDLR	NM_000527.5(LDLR):c.1662_1669dup:p.Thr557delinsSerTrpTer	coding	Pathogenic
19	11116177	CTG	C	T11116178A	LDLR	NM_000527.5(LDLR):c.1671_1672del:p.Glu558fs	coding	Pathogenic
19	11116179	GAAAA	G	A11116180C	LDLR	NM_000527.4(LDLR):c.1673_1676del:p.Glu558fs	coding	Pathogenic
19	11116189	AG	A	G11116190T	LDLR	NM_000527.4(LDLR):c.1683del:p.Gln561fs	coding	Pathogenic
19	11116190	GTGGCCCAA	G	C11116195A	LDLR	NM_000527.5(LDLR):c.1688_1695del:p.Pro563fs	coding	Pathogenic
19	11116193	GCCCAATG	T	G11116193T	LDLR	NM_000527.5(LDLR):c.1686_1693delinsT:p.Trp562fs	coding	Pathogenic
19	11116193	G	GC	A11116197C	LDLR	NM_000527.5(LDLR):c.1689dup:p.Asn564fs	coding	Pathogenic
19	11116199	TGGCA	T	G11116200T	LDLR	NM_000527.4(LDLR):c.1693_1696del:p.Gly565fs	coding	Pathogenic
19	11116205	CACCCTA	GCCCAAT	C11116205G	LDLR	NM_000527.5(LDLR):c.1698_1704delinsGCCCAAT:p.Ile566_Leu568delinsMetProAsn	coding	Pathogenic/Likely_pathogenic
19	11116208	C	CCTAG	G11116213C	LDLR	NM_000527.5(LDLR):c.1702_1705dup:p.Asp569fs	coding	Pathogenic
19	11116211	AG	A	G11116213T	LDLR	NM_000527.4(LDLR):c.1705+1del	coding	Pathogenic
19	11116214	T	TC	A11116215C	LDLR	NM_000527.5(LDLR):c.1705+2_1705+3insC	noncoding	Pathogenic/Likely_pathogenic
19	11116868	GTGGC	A	G11116868A	LDLR	NM_000527.5(LDLR):c.1715_1719delinsA:p.Ser572fs	coding	Pathogenic
19	11116869	TG	T	G11116871C	LDLR	NM_000527.4(LDLR):c.1718del:p.Gly573fs	coding	Pathogenic
19	11116889	AC	A	C11116890T	LDLR	NM_000527.4(LDLR):c.1737del:p.Ser580fs	coding	Pathogenic
19	11116889	AC	T	A11116889T	LDLR	NM_001195798.2(LDLR):c.1736_1737delinsT:p.Asp579fs	coding	Pathogenic
19	11116890	C	CTTG	C11116892T	LDLR	NM_000527.4(LDLR):c.1738_1739insTGT:p.Ser580_Lys581insLeu	coding	Pathogenic
19	11116897	C	CA	T11116898A	LDLR	NM_000527.4(LDLR):c.1744_1745insA:p.Leu582fs	coding	Pathogenic
19	11116897	CTT	C	T11116898C	LDLR	NM_000527.5(LDLR):c.1745_1746del:p.Leu582fs	coding	Pathogenic
19	11116899	TCACTC	T	C11116902T	LDLR	NM_000527.5(LDLR):c.1749_1753del:p.Ser584fs	coding	Pathogenic
19	11116903	TC	T	C11116905A	LDLR	NM_000527.4(LDLR):c.1752del:p.Ile585fs	coding	Pathogenic
19	11116905	CA	C	A11116906T	LDLR	NM_000527.4(LDLR):c.1753del:p.Ile585fs	coding	Pathogenic
19	11116908	CT	C	T11116909C	LDLR	NM_000527.4(LDLR):c.1756del:p.Ser586fs	coding	Pathogenic
19	11116910	CA	C	A11116912G	LDLR	NM_000527.4(LDLR):c.1759del:p.Ser587fs	coding	Pathogenic
19	11116918	GA	G	A11116919T	LDLR	NM_000527.4(LDLR):c.1766del:p.Asp589fs	coding	Pathogenic
19	11116918	GAT	G	A11116919G	LDLR	NM_000527.5(LDLR):c.1766_1767del:p.Asp589fs	coding	Pathogenic
19	11116920	TGTCAAC	T	T11116922G	LDLR	NM_000527.4(LDLR):c.1769_1774del:p.Val590_Asn591del	coding	Pathogenic
19	11116926	C	CG	C11116932G	LDLR	NM_000527.5(LDLR):c.1778dup:p.Asn594fs	coding	Pathogenic
19	11116926	CG	C	G11116931C	LDLR	NM_000527.4(LDLR):c.1778del:p.Gly593fs	coding	Pathogenic
19	11116926	CG	T	C11116926T	LDLR	NM_001195798.2(LDLR):c.1773_1774delinsT:p.Gly593fs	coding	Pathogenic
19	11116931	GC	G	C11116932A	LDLR	NM_000527.4(LDLR):c.1779del:p.Asn594fs	coding	Pathogenic
19	11116935	CCGGAAGA	C	G11116937C	LDLR	NM_000527.5(LDLR):c.1784_1790del:p.Arg595fs	coding	Pathogenic
19	11116941	GA	G	A11116942C	LDLR	NM_000527.4(LDLR):c.1789del:p.Thr597fs	coding	Pathogenic
19	11116954	G	GA	T11116956A	LDLR	NM_000527.5(LDLR):c.1802dup:p.Asp601fs	coding	Pathogenic
19	11116964	G	CT	G11116964C	LDLR	NM_001195798.2(LDLR):c.1811delinsCT:p.Arg604fs	coding	Pathogenic
19	11116965	GCTGGCCCACCC	G	G11116968T	LDLR	NM_000527.5(LDLR):c.1815_1825del:p.Ala606fs	coding	Pathogenic
19	11116978	T	TTCTCCTTGGCCG	T11116994C	LDLR	NM_000527.4(LDLR):c.1829_1840dup:p.Ser610_Val613dup	coding	Pathogenic
19	11116979	TCTC	T	C11116982T	LDLR	NM_000527.5(LDLR):c.1829_1831del:p.Ser610del	coding	Pathogenic/Likely_pathogenic
19	11116983	C	CT	G11116986T	LDLR	NM_000527.5(LDLR):c.1832dup:p.Leu611fs	coding	Pathogenic
19	11116992	CTT	C	T11116994G	LDLR	NM_000527.5(LDLR):c.1841_1842del:p.Val613_Phe614insTer	coding	Pathogenic
19	11116993	TTTGAGG	T	T11116995G	LDLR	NM_000527.4(LDLR):c.1842_1845+2del	coding	Pathogenic
19	11116997	AG	A	G11116999T	LDLR	NM_000527.4(LDLR):c.1845+1del	coding	Pathogenic/Likely_pathogenic
19	11120090	AGGACAAAGTATTTTGGACAGATATCATCAACGAAGCCATTTTCAGTGCCAACCGCCTCACAGGTTCCGATGTCAACTTGTTGGCTGAAAACCTACTGTCCCCAGAGGATATGGTTCTCTTCCACAACCTCACCCAGCCAAGAGGTAAGGGTGGGTCAGCCCCACCCCCCCAACCTTGAAACCTCCTTGTGGAAACTCTGGAATGTTCTGGAAATTTCTGGAATCTTCTGGTATAGCTGATGATCTCGTTCCTGCCCTGACTCCGCTTCTTCTGCCCCAGGAGTGAACTGGTGTGAGAGGACCACCCTGAGCAATGGCGGCTGCCAGTATCTGTGCCTCCCTGCCCCGCAGATCAACCCCCACTCGCCCAAGTTTACCTGCGCCTGCCCGGACGGCATGCTGCTGGCCAGGGACATGAGGAGCTGCCTCACAGG	A	G11120091T	LDLR	GRCh38/hg38_19p13.2(chr19:11120091-11120523)x1	noncoding	Pathogenic
19	11120090	AGGACAAAGTATTTTGGACAGATATCATCAACGAAGCCATTTTCAGTGCCAACCGCCTCACAGGTTCCGATGTCAACTTGTTGGCTGAAAACCTACTGTCCCCAGAGGATATGGTTCTCTTCCACAACCTCACCCAGCCAAGAGGTAAGGGTGGGTCAGCCCCACCCCCCCAACCTTGAAACCTCCTTGTGGAAACTCTGGAATGTTCTGGAAATTTCTGGAATCTTCTGGTATAGCTGATGATCTCGTTCCTGCCCTGACTCCGCTTCTTCTGCCCCAGGAGTGAACTGGTGTGAGAGGACCACCCTGAGCAATGGCGGCTGCCAGTATCTGTGCCTCCCTGCCCCGCAGATCAACCCCCACTCGCCCAAGTTTACCTGCGCCTGCCCGGACGGCATGCTGCTGGCCAGGGACATGAGGAGCTGCCTCACAGGTGTGGCACACGCCTTGTTTCTGCGTCCTGTGTCCTCCAACTGCCCCCTCCTGAGCCTCTCTCTGCTCATCTGTCAAATGGGTACCTCAAGGTCGTTGTAAGGACTCATGAGTCGGGATAACCATACTTTTCTTGGATGGACACATCAGCACCGGGCTTGACATTTACCCAGTTCCCCTTTGATGCCTGGTTTCCTCTTTCCCGGCCCCCTGAAGAGGTGATCTGATTTCTGACAGGAGCCCTGAGGGAGGAAATGGTCCCCTTTGTTGACTTTTCTTTTTCTTTATTTTTTTCTTTTGAGATTTGCTGTCACCCAGCCTGGAATGCAGTGGTGCCATCTTGGCTCACTGCTACCTCTCCCACTGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAAGCATGCGCCACCATGCCTGGCTAAGTTTTGTATTTTTAGTACAGACAGGGTTTCTCCATGGTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCTCCCACCTCTGCCTCCCGAAGTGCTACGATTACAGGCATGAGCCACCGCGCCCATCCCCCTTTGTTGACTTTTCTCATCCTCTGAGAAAGTCTCAGTTGAGGCCAGCACCTCCCTCAAGTGAATTGAATCTCCCTTTTGAACAACAACAAATAACAATATGACCCAGACGTGGTGGCTCACACCTGTGGTCCCAGCTACTCGGGAGGCTGAGGTGTGAGGATTGCTTGAGCCCAGGAGGTCAAGGCTACAGAGAGCTATAATCACACCACTTCACTCCAGCCTGGGGGACAAAGTGAAACCCTGTCTGAAAAAAACAAAAAAAGAAAAAGGAAAAAGAAACAATACGATCACAAAGTAGATATTCATAGTGTTTATTTTCAGTACTCTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCACGATCTTGGCTCACTGCAGCCTCTGCCTCCCAGGTTCAAGCGCTTGGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGCGCTTCTTCTGCCTCAGCCTCCCCAGTAGCTGGGACTATAGGCACGTCCCACTACGCCCAGCTAATTTTTTGTATTTTTTAGTAGAGATGGGGTTTCACTATGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCTGCCTGCCTTGGGCTCCCAAAGTGTTGGGATTATGGGCATGAGCCACTGCACCTGGCCTTTTTTTTTTTTTTTTTTGAGATGGAGTTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGTGTGATCTCGGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCACCTGCCACCACGCCTGGCTAATTTTTGTACTTTTAGTAGAGACGGGGTTTCTCCATGTTGGTCAGGCTGGTCTCAAACTCCTGACCTCAGGTGATCCACCCACCTCGGCCTCCCAAAGTTCTGGGATTACAGACATGAGCCACCGCGCCTGGCCGTGTCTGGCCTTTTTTAGTTATTTCTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTTACTCCGTCGCCCAGGCTGGAGTGCAGCGGTGCGATGTCTGCGCACTGCAAGCTCCGCCCCCTGGGTTCATGCCATTCTCCTGCCTCAGCCTTCTGAGTAGCTGGGACTGCAGGCGCCTGCCACTACGCCCGGCTACTTTTTTGTATATTTAGTAGAGATGGAGTTTCACTGTGTTAGCCAGGATGGTCTCGATCTCCTGACTTTGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCATGCCAGGCTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGCCATGATCTCAGCTCACTGCAAGCTCCACTTCCCAGGCTCACGCCATTCTCCAGCCTCAGCCTCCCAAGTAGCTGAGACTACAGGGGCCCGCCACCACACTCGGCTAATTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTAGCCAGGCTGGTCTTGAACTCCTAACCTCAGGCGATTCACCTGCCTCGGCCTCCCAAAGTGCTGGGATTAAAGGTATGAGCCACCTCGCCTGGTGTGAGCCACCTCGCCCAGCCTGAGCCACCTCACCCAGCCTAAGCCACTGTGCCTGGCCTGATTTTGGACTTTTTAAAAATTTTATTAATAATTATTTTTGGGTTTCTTTTTTTTGAGACAGGGTCTTACTCTGTCATCCAGGCCATCCTGTCTGTCTGTCATCCCAGTGATGGGATCATACCTTGCTGCAGCCTCTACCTCCTGGGCTCAAGCGATCCTCCCCCCTCAGCCTCCTGAGTAGCTGGGAGTACAGGTGTGCACCACCACACCTGGCTAATTTTTTTTTTTTTTTTTGTATATAGAGATGGTATTTTGCCATGTTGACCAGGCTAGTCTTAAACTCCTGGACTCACTCAAGAGATCCTCCTGCCTTGGCCTCCCAAGGTCATTTGAGACTTTCGTCATTAGGCGCACACCTATGAGAAGGGCCTGCAGGCACGTGGCACTCAGAAGACGTTTATTTATTCTTTCAGAGGCTGAGGCTGCAGTGGCCACCCAGGAGACATCCACCGTCAGGCTAAAGGTCAGCTCCACAGCCGTAAGGACACAGCACACAACCACCCGACCTGTTCCCGACACCTCCCGGCTGCCTGGGGCCACCCCTGGGCTCACCACGGTGGAGATAGTGACAATGTCTCACCAAGG	A	G11120091T	LDLR	GRCh38/hg38_19p13.2(chr19:11120091-11123345)x1	noncoding	Pathogenic
19	11120091	GGACAAAGTATTTTGGACAGA	G	G11120092T	LDLR	NM_000527.4(LDLR):c.1846_1865del:p.Asp616fs	coding	Pathogenic
19	11120094	CA	C	A11120097G	LDLR	NM_000527.4(LDLR):c.1851del:p.Val618fs	coding	Pathogenic
19	11120101	T	TA	T11120102A	LDLR	NM_000527.5(LDLR):c.1855_1856insA:p.Phe619fs	coding	Pathogenic
19	11120104	T	TG	A11120107G	LDLR	NM_000527.5(LDLR):c.1860dup:p.Thr621fs	coding	Pathogenic
19	11120110	GAT	G	A11120113C	LDLR	NM_001195798.2(LDLR):c.1865_1866AT[1]:p.Ile623fs	coding	Pathogenic
19	11120112	TATC	T	T11120117A	LDLR	NM_001195798.2(LDLR):c.1868_1870TCA[1]:p.Ile624del	coding	Pathogenic/Likely_pathogenic
19	11120112	T	TA	T11120114A	LDLR	NM_000527.4(LDLR):c.1867dup:p.Ile623fs	coding	Pathogenic/Likely_pathogenic
19	11120117	TC	T	C11120118A	LDLR	NM_000527.4(LDLR):c.1872del:p.Asn625fs	coding	Pathogenic
19	11120121	CG	C	G11120122A	LDLR	NM_000527.4(LDLR):c.1876del:p.Glu626fs	coding	Pathogenic
19	11120122	GA	G	A11120124G	LDLR	NM_001195798.2(LDLR):c.1878del:p.Ala627fs	coding	Pathogenic/Likely_pathogenic
19	11120128	AT	A	T11120132C	LDLR	NM_001195798.2(LDLR):c.1886del:p.Phe629fs	coding	Pathogenic
19	11120131	T	TA	T11120132A	LDLR	NM_000527.4(LDLR):c.1885_1886insA:p.Phe629fs	coding	Pathogenic
19	11120155	TC	T	C11120157G	LDLR	NM_000527.4(LDLR):c.1911delC:p.Asp638Metfs	coding	Pathogenic/Likely_pathogenic
19	11120176	G	GA	C11120181A	LDLR	NM_000527.5(LDLR):c.1934dup:p.Asn645fs	coding	Pathogenic
19	11120180	AC	A	C11120182T	LDLR	NM_000527.4(LDLR):c.1936del:p.Leu646fs	coding	Pathogenic
19	11120181	C	CA	C11120182A	LDLR	NM_000527.5(LDLR):c.1935_1936insA:p.Leu646fs	coding	Pathogenic
19	11120188	TC	T	C11120192A	LDLR	NM_000527.4(LDLR):c.1946del:p.Pro649fs	coding	Pathogenic
19	11120188	T	TC	A11120193C	LDLR	NM_000527.5(LDLR):c.1946dup:p.Glu650fs	coding	Pathogenic
19	11120192	C	CAGAGG	T11120199G	LDLR	NM_000527.5(LDLR):c.1948_1952dup:p.Asp651fs	coding	Pathogenic
19	11120197	GAT	G	A11120200G	LDLR	NM_001195798.2(LDLR):c.1952_1953AT[1]:p.Met652fs	coding	Pathogenic
19	11120203	G	GTTCTC	C11120212T	LDLR	NM_000527.5(LDLR):c.1961_1965dup:p.His656fs	coding	Pathogenic
19	11120208	CT	C	T11120210C	LDLR	NM_000527.4(LDLR):c.1964del:p.Phe655fs	coding	Pathogenic
19	11120219	TCACCCAGCCAAGAGGTAAGGGTGGGTCAG	T	A11120221C	LDLR	NM_000527.5(LDLR):c.1975_1987+16del	coding	Pathogenic
19	11120222	CCCAG	C	G11120226A	LDLR	NM_000527.4(LDLR):c.1980_1983del:p.Pro661fs	coding	Pathogenic
19	11120232	AG	A	G11120234T	LDLR	NM_000527.4(LDLR):c.1987+1del	coding	Pathogenic
19	11120232	AG	C	A11120232C	LDLR	NM_000527.5(LDLR):c.1986_1987delinsC:p.Arg662fs	coding	Pathogenic
19	11120317	CTGGTATAGCTGATGATCTCGTTCCTGCCCTGACTCCGCTTCTTCTGCCCCAGGAGTGAACTGGTGTGAGAG	C	T11120318G	LDLR	NM_000527.5(LDLR):c.1988-52_2006del	noncoding	Pathogenic
19	11120375	AACTGGTGTGAGAGGACC	A	T11120378C	LDLR	NM_000527.5(LDLR):c.1996_2012del:p.Trp666fs	coding	Pathogenic
19	11120378	TG	T	G11120380T	LDLR	NM_001195803.2(LDLR):c.1606+147del	coding	Pathogenic
19	11120379	GGT	G	T11120383A	LDLR	NM_001195803.2(LDLR):c.1606+150_1606+151del	coding	Pathogenic
19	11120381	TG	T	G11120382T	LDLR	NM_001195803.2(LDLR):c.1606+149del	coding	Pathogenic
19	11120381	TGTGAGAG	T	T11120383A	LDLR	NM_000527.5(LDLR):c.2001_2007del:p.Trp666_Cys667insTer	coding	Pathogenic
19	11120382	GT	G	T11120383G	LDLR	NM_001195803.2(LDLR):c.1606+150del	coding	Pathogenic
19	11120392	CA	C	A11120393C	LDLR	NM_001195803.2(LDLR):c.1606+160del	coding	Pathogenic
19	11120393	AC	A	C11120396T	LDLR	NM_001195803.2(LDLR):c.1606+163del	coding	Pathogenic
19	11120393	ACC	A	C11120395T	LDLR	NM_000527.5(LDLR):c.2013_2014del:p.Leu672fs	coding	Pathogenic
19	11120396	CT	C	T11120397G	LDLR	NM_001195803.2(LDLR):c.1606+164del	coding	Pathogenic
19	11120407	CG	C	G11120409C	LDLR	NM_000527.4(LDLR):c.2027del:p.Gly676fs	coding	Pathogenic
19	11120411	TGCCAGTATCTGTG	T	G11120412C	LDLR	NM_000527.5(LDLR):c.2030_2042del:p.Cys677fs	coding	Pathogenic
19	11120416	G	GT	A11120418T	LDLR	NM_000527.5(LDLR):c.2035dup:p.Tyr679fs	coding	Pathogenic
19	11120417	T	TA	T11120419A	LDLR	NM_000527.5(LDLR):c.2036dup:p.Tyr679Ter	coding	Pathogenic
19	11120424	GCCTC	G	C11120428G	LDLR	NM_000527.5(LDLR):c.2046_2049del:p.Ala684fs	coding	Pathogenic
19	11120431	TGCCCCGCAGATCAA	T	G11120432C	LDLR	NM_000527.5(LDLR):c.2050_2063del:p.Ala684fs	coding	Pathogenic
19	11120431	TG	T	G11120432C	LDLR	NM_000527.4(LDLR):c.2050del:p.Ala684fs	coding	Pathogenic
19	11120432	GCCCCGCAGATCAA	C	G11120432C	LDLR	NM_001195803.2(LDLR):c.1606+199_1606+212delinsC	coding	Pathogenic
19	11120432	GCCCCGCAGATCAAC	G	G11120437A	LDLR	NM_000527.5(LDLR):c.2055_2068del:p.Gln686fs	coding	Pathogenic
19	11120432	GCCCCGCAGATCAA	G	G11120437C	LDLR	NM_000527.5(LDLR):c.2055_2067del:p.Gln686fs	coding	Pathogenic
19	11120432	GC	G	C11120436G	LDLR	NM_001195803.2(LDLR):c.1606+203del	coding	Pathogenic
19	11120436	CG	C	G11120437C	LDLR	NM_001195803.2(LDLR):c.1606+204del	coding	Pathogenic
19	11120437	GCAGATCAACCCCC	G	C11120438A	LDLR	NM_000527.5(LDLR):c.2056_2068del:p.Gln686fs	coding	Pathogenic
19	11120441	A	AT	C11120443T	LDLR	NM_000527.5(LDLR):c.2060dup:p.Asn688fs	coding	Pathogenic
19	11120441	AT	A	T11120442C	LDLR	NM_000527.4(LDLR):c.2060del:p.Ile687fs	coding	Pathogenic
19	11120442	TC	T	C11120443A	LDLR	NM_000527.4(LDLR):c.2061del:p.Asn688fs	coding	Pathogenic
19	11120442	T	TC	A11120444C	LDLR	NM_000527.5(LDLR):c.2061dup:p.Asn688fs	coding	Pathogenic
19	11120443	CA	C	A11120445C	LDLR	NM_000527.4(LDLR):c.2063del:p.Asn688fs	coding	Pathogenic
19	11120443	C	CA	C11120446A	LDLR	NM_000527.5(LDLR):c.2063dup:p.Asn688fs	coding	Pathogenic
19	11120444	A	AC	A11120445C	LDLR	NM_000527.4(LDLR):c.2062_2063insC:p.Asn688fs	coding	Pathogenic
19	11120445	A	AC	A11120451C	LDLR	NM_000527.4(LDLR):c.2068dup:p.His690fs	coding	Pathogenic
19	11120445	AC	A	C11120450A	LDLR	NM_000527.4(LDLR):c.2068del:p.His690fs	coding	Pathogenic
19	11120458	CAA	C	A11120459G	LDLR	NM_000527.5(LDLR):c.2077_2078del:p.Lys693fs	coding	Pathogenic
19	11120458	C	CA	G11120461A	LDLR	NM_000527.4(LDLR):c.2078dup:p.Phe694fs	coding	Pathogenic
19	11120465	AC	A	C11120467T	LDLR	NM_000527.4(LDLR):c.2085del:p.Cys696fs	coding	Pathogenic
19	11120465	ACCTGCGCCTGCCCGGACGG	A	C11120467A	LDLR	NM_000527.5(LDLR):c.2085_2103del:p.Ala697fs	coding	Pathogenic
19	11120473	CT	C	T11120474G	LDLR	NM_001195803.2(LDLR):c.1606+241del	coding	Pathogenic
19	11120475	GC	G	C11120478G	LDLR	NM_001195803.2(LDLR):c.1606+245del	coding	Pathogenic
19	11120487	TGCTGCTG	T	T11120490C	LDLR	NM_000527.5(LDLR):c.2108_2114del:p.Leu703fs	coding	Pathogenic
19	11120487	T	TGCTGCTG	C11120497T	LDLR	NM_000527.5(LDLR):c.2108_2114dup:p.Arg706fs	coding	Pathogenic
19	11120489	C	CTGCT	G11120494T	LDLR	NM_000527.5(LDLR):c.2108_2111dup:p.Arg706fs	coding	Pathogenic
19	11120493	TG	T	G11120495C	LDLR	NM_000527.5(LDLR):c.2113del:p.Ala705fs	coding	Pathogenic
19	11120498	A	AC	G11120499C	LDLR	NM_000527.4(LDLR):c.2116_2117insC:p.Arg706fs	coding	Pathogenic
19	11120514	G	GC	T11120517C	LDLR	NM_000527.4(LDLR):c.2134dup:p.Leu712fs	coding	Pathogenic
19	11120519	AC	A	C11120520A	LDLR	NM_000527.5(LDLR):c.2138del:p.Thr713fs	coding	Pathogenic
19	11120521	AGGTGTGGCACAC	A	G11120523C	LDLR	NM_000527.4(LDLR):c.2140+1_2140+12del	coding	Pathogenic
19	11123171	CAGAGGCTGAGGCTGCAGTGGCCACCCAGGAGACATCCACCGTCAGGCTAAAGGTCAGCTCCACAGCCGTAAGGACACAGCACACAACCACCCGACCTGTTCCCGACACCTCCCGGCTGCCTGGGGCCACCCCTGGGCTCACCACGGTGGAGATAGTGACAATGTCTCACCA	C	A11123174G	LDLR	NM_000527.4(LDLR):c.2141_2311del171:p.Glu714_Gln770del	noncoding	Pathogenic
19	11123198	AG	A	G11123200A	LDLR	NM_000527.4(LDLR):c.2167del:p.Glu723fs	coding	Pathogenic
19	11123206	TC	T	C11123208A	LDLR	NM_000527.4(LDLR):c.2175del:p.Thr726fs	coding	Pathogenic
19	11123209	AC	A	C11123211G	LDLR	NM_000527.4(LDLR):c.2178del:p.Val727fs	coding	Pathogenic
19	11123211	C	CGTCAG	C11123218T	LDLR	NM_000527.4(LDLR):c.2180_2184dup:p.Leu729fs	coding	Pathogenic
19	11123215	AG	A	G11123217C	LDLR	NM_000527.4(LDLR):c.2184del:p.Arg728fs	coding	Pathogenic
19	11123216	GGCTAAAGGTCA	G	A11123220C	LDLR	NM_000527.5(LDLR):c.2187_2197del:p.Lys730fs	coding	Pathogenic
19	11123218	C	CT	A11123220T	LDLR	NM_000527.5(LDLR):c.2186dup:p.Val731fs	coding	Pathogenic
19	11123221	A	AAGGTCAGCTCCAC	C11123237G	LDLR	NM_000527.5(LDLR):c.2191_2203dup:p.Ala735fs	coding	Pathogenic
19	11123222	AG	A	G11123224T	LDLR	NM_000527.4(LDLR):c.2191del:p.Val731fs	coding	Pathogenic
19	11123231	CCA	C	C11123234G	LDLR	NM_001195798.2(LDLR):c.2199_2200CA[1]:p.Thr734fs	coding	Pathogenic
19	11123239	G	GT	A11123241T	LDLR	NM_000527.5(LDLR):c.2207dup:p.Arg737fs	coding	Pathogenic
19	11123257	AC	A	C11123259A	LDLR	NM_000527.4(LDLR):c.2226del:p.Thr743fs	coding	Pathogenic
19	11123260	AC	A	C11123263G	LDLR	NM_000527.4(LDLR):c.2230del:p.Arg744fs	coding	Pathogenic
19	11123281	TC	T	C11123284G	LDLR	NM_000527.4(LDLR):c.2251del:p.Arg751fs	coding	Pathogenic
19	11123284	C	CGGCT	C11123290G	LDLR	NM_000527.4(LDLR):c.2253_2256dup:p.Pro753fs	coding	Pathogenic
19	11123291	C	CT	G11123293T	LDLR	NM_000527.4(LDLR):c.2259dup:p.Gly754fs	coding	Pathogenic
19	11123292	TG	T	G11123296C	LDLR	NM_000527.4(LDLR):c.2263del:p.Ala755fs	coding	Pathogenic
19	11123294	GGGCCACCCCT	G	C11123297G	LDLR	NM_000527.5(LDLR):c.2264_2273del:p.Ala755fs	coding	Pathogenic
19	11123298	CA	C	A11123299C	LDLR	NM_000527.4(LDLR):c.2266del:p.Thr756fs	coding	Pathogenic
19	11123299	AC	A	C11123303T	LDLR	NM_000527.4(LDLR):c.2270del:p.Pro757fs	coding	Pathogenic
19	11123303	CT	C	T11123304G	LDLR	NM_001195798.2(LDLR):c.2271del:p.Leu759fs	coding	Pathogenic
19	11123304	TG	T	G11123307C	LDLR	NM_000527.4(LDLR):c.2274del:p.Leu759fs	coding	Pathogenic
19	11123307	GCTCACCACGGTGGAGATAGTGACAATGT	G	C11123315A	LDLR	NM_000527.4(LDLR):c.2282_2309del:p.Thr761fs	coding	Pathogenic
19	11123324	TA	T	A11123325G	LDLR	NM_001195798.2(LDLR):c.2292del:p.Ile764fs	coding	Pathogenic
19	11123325	AGTGACAAT	A	G11123328C	LDLR	NM_000527.4(LDLR):c.2295_2302del:p.Thr766fs	coding	Pathogenic
19	11123328	GAC	G	C11123330A	LDLR	NM_000527.5(LDLR):c.2297_2298del:p.Thr766fs	coding	Pathogenic
19	11123330	CA	C	A11123332T	LDLR	NM_000527.4(LDLR):c.2299del:p.Met767fs	coding	Pathogenic
19	11128011	TG	T	G11128014C	LDLR	NM_000527.4(LDLR):c.2318del:p.Gly773fs	coding	Pathogenic
19	11128013	G	GTA	G11128014T	LDLR	NM_000527.5(LDLR):c.2317_2318insTA:p.Gly773fs	coding	Pathogenic
19	11128017	ACGTTGCTGGCAGAGGAAATGAGAAGAAGCC	A	G11128019A	LDLR	NM_000527.4(LDLR):c.2323_2352del:p.Val775_Pro784del	coding	Pathogenic
19	11128029	G	GC	A11128030C	LDLR	NM_000527.5(LDLR):c.2333_2334insC:p.Arg778fs	coding	Pathogenic
19	11128036	TGAGAA	T	G11128039A	LDLR	NM_000527.5(LDLR):c.2343_2347del:p.Lys782fs	coding	Pathogenic
19	11128061	G	GCT	G11128066C	LDLR	NM_001195798.2(LDLR):c.2366_2367CT[3]:p.Ser791fs	coding	Pathogenic
19	11128063	TCTGTCCA	T	C11128064T	LDLR	NM_000527.5(LDLR):c.2368_2374del:p.Ile792fs	coding	Pathogenic
19	11128070	AT	A	T11128072G	LDLR	NM_000527.4(LDLR):c.2376del:p.Ile792fs	coding	Pathogenic
19	11128077	TC	T	C11128081A	LDLR	NM_000527.4(LDLR):c.2385del:p.Ile796fs	coding	Pathogenic
19	11129512	GTGCTCCTCGTCTTCCTT	G	T11129516C	LDLR	NM_000527.4(LDLR):c.2393_2409del:p.Leu798fs	coding	Pathogenic
19	11129514	GCTCCTCGT	G	C11129517T	LDLR	NM_000527.4(LDLR):c.2394_2401del:p.Leu799fs	coding	Pathogenic
19	11129522	TCTTC	GGGT	T11129522G	LDLR	NM_000527.5(LDLR):c.2399_2403delinsGGGT:p.Val800fs	coding	Pathogenic
19	11129522	TCTTC	T	C11129526T	LDLR	NM_000527.5(LDLR):c.2403_2406del:p.Leu802fs	coding	Pathogenic
19	11129522	T	TC	T11129524C	LDLR	NM_000527.4(LDLR):c.2400dup:p.Phe801fs	coding	Pathogenic
19	11129523	CT	C	T11129525C	LDLR	NM_000527.4(LDLR):c.2402del:p.Phe801fs	coding	Pathogenic
19	11129530	T	TGC	C11129533G	LDLR	NM_000527.5(LDLR):c.2408_2409dup:p.Leu804fs	coding	Pathogenic
19	11129534	TG	T	G11129539T	LDLR	NM_000527.4(LDLR):c.2416del:p.Val806fs	coding	Pathogenic
19	11129539	GTCTTCCT	G	T11129543A	LDLR	NM_000527.5(LDLR):c.2420_2426del:p.Phe807fs	coding	Pathogenic
19	11129540	TCTTC	T	C11129545T	LDLR	NM_001195798.2(LDLR):c.2418_2421CTTC[1]:p.Leu808fs	coding	Pathogenic
19	11129540	T	TG	C11129541G	LDLR	NM_000527.5(LDLR):c.2417_2418insG:p.Phe807fs	coding	Pathogenic
19	11129540	T	TGG	C11129541G	LDLR	NM_000527.5(LDLR):c.2417_2418insGG:p.Phe807fs	coding	Pathogenic
19	11129568	T	TAAGA	C11129574A	LDLR	NM_000527.4(LDLR):c.2447_2450dupAGAA:p.Asn817Lysfs	coding	Pathogenic
19	11129597	A	AC	G11129602C	LDLR	NM_000527.5(LDLR):c.2478dup:p.Val827fs	coding	Pathogenic
19	11129597	AC	A	C11129601G	LDLR	NM_001195798.2(LDLR):c.2478del:p.Val827fs	coding	Pathogenic
19	11129604	C	CT	A11129606T	LDLR	NM_000527.4(LDLR):c.2482dup:p.Tyr828fs	coding	Pathogenic
19	11129621	AG	A	G11129623A	LDLR	NM_000527.4(LDLR):c.2500del:p.Asp834fs	coding	Pathogenic
19	11129623	GAT	C	G11129623C	LDLR	NM_000527.5(LDLR):c.2500_2502delinsC:p.Asp834fs	coding	Pathogenic
19	11129630	TC	T	C11129632A	LDLR	NM_000527.4(LDLR):c.2509del:p.His837fs	coding	Pathogenic
19	11129663	A	AC	T11129668C	LDLR	NM_000527.5(LDLR):c.2544dup:p.Ser849fs	coding	Pathogenic/Likely_pathogenic
19	11129668	TC	T	C11129669G	LDLR	NM_000527.4(LDLR):c.2546del:p.Pro848_Ser849insTer	coding	Pathogenic/Likely_pathogenic
19	11131284	CA	C	A11131285G	LDLR	NM_001195798.2(LDLR):c.2548-2del	coding	Pathogenic
19	11209026	AGCTCC	A	T11209029G	DOCK6	NM_020812.4(DOCK6):c.4824_4828del:p.Glu1609fs	coding	Pathogenic
19	11214558	C	CGATG	A11214563G	DOCK6	NM_020812.4(DOCK6):c.4194_4197dup:p.Val1400fs	coding	Pathogenic
19	11235631	G	GA	G11235635A	DOCK6	NM_020812.4(DOCK6):c.2520dup:p.Arg841fs	coding	Pathogenic
19	11236518	TG	T	G11236521A	DOCK6	NM_020812.4(DOCK6):c.2219del:p.Pro740fs	coding	Pathogenic
19	11243278	CAGTT	C	T11243281C	DOCK6	NM_020812.4(DOCK6):c.1362_1365del:p.Thr455fs	coding	Pathogenic/Likely_pathogenic
19	11243569	C	CA	G11243571A	DOCK6	NM_020812.4(DOCK6):c.1245dup:p.Asp416Ter	coding	Pathogenic
19	11426889	T	TGTCTGTTTTGCGC	C11426903G	ODAD3	NM_145045.5(ODAD3):c.583_595dup:p.His199fs	coding	Pathogenic
19	11430997	C	CA	G11431005A	ODAD3	NM_145045.5(ODAD3):c.267dup:p.Glu90Ter	coding	Pathogenic
19	11436201	GTCC	G	C11436206G	PRKCSH	NM_002743.3(PRKCSH):c.79+10_79+12del	noncoding	Benign
19	11436202	T	TCCTCCTGTTCAC	C11436220T	PRKCSH	NM_002743.3(PRKCSH):c.79+12_79+23dup	noncoding	Benign
19	11437892	T	TA	T11437895A	PRKCSH	NM_002743.3(PRKCSH):c.215dup:p.Asn72fs	coding	Pathogenic
19	11447525	AGAG	A	G11447555A	PRKCSH	NM_002743.3(PRKCSH):c.939_941GGA[9]:p.Glu325del	coding	Benign/Likely_benign
19	11447525	AGAGGAG	A	G11447552A	PRKCSH	NM_002743.3(PRKCSH):c.939_941GGA[8]:p.Glu324_Glu325del	coding	Benign
19	11449175	CGT	C	T11449177A	PRKCSH	NM_002743.3(PRKCSH):c.1440+2_1440+3del	coding	Pathogenic
19	11449282	GGAAA	G	A11449285G	PRKCSH	NM_002743.3(PRKCSH):c.1460_1463del:p.Lys487fs	coding	Pathogenic
19	11575154	ATAG	A	T11575155C	ACP5	NM_001611.5(ACP5):c.831_833del:p.Tyr278del	coding	Pathogenic
19	11575171	T	TG	C11575173G	ACP5	NM_001611.5(ACP5):c.816dup:p.Lys273fs	coding	Pathogenic
19	11575197	ATGAAATTCCCAGCCCCACT	A	T11575198C	ACP5	NM_001611.5(ACP5):c.772_790del:p.Ser258fs	coding	Pathogenic
19	11576351	CCA	C	A11576355G	ACP5	NM_001611.5(ACP5):c.623_624TG[1]:p.Trp209fs	coding	Pathogenic
19	11577252	GGCACCATCAGCCAGGGAGGGTA	G	C11577256A	ACP5	NM_001611.5(ACP5):c.44_65del:p.Leu15fs	coding	Pathogenic
19	12647276	CTGGTTGGCCACCAGCG	C	T12647281C	MAN2B1	NM_000528.4(MAN2B1):c.2864_2879del:p.Thr955fs	coding	Pathogenic
19	12647460	C	CG	C12647466G	MAN2B1	NM_000528.4(MAN2B1):c.2802dup:p.Val935fs	coding	Pathogenic/Likely_pathogenic
19	12647591	CCT	C	C12647592G	MAN2B1	NM_000528.4(MAN2B1):c.2670_2671del:p.Gly891fs	coding	Pathogenic
19	12648263	AGGAGCCGGTGTCCGGCG	A	G12648265C	MAN2B1	NM_000528.4(MAN2B1):c.2559_2575del:p.Ala854fs	coding	Pathogenic
19	12649169	G	GC	T12649176C	MAN2B1	NM_000528.4(MAN2B1):c.2402dup:p.Ser802fs	coding	Pathogenic/Likely_pathogenic
19	12649423	TC	T	C12649426G	MAN2B1	NM_000528.4(MAN2B1):c.2272del:p.Asp758fs	coding	Pathogenic
19	12649967	TC	T	C12649969A	MAN2B1	NM_000528.4(MAN2B1):c.2212del:p.Glu738fs	coding	Pathogenic
19	12652185	CA	C	A12652186G	MAN2B1	NM_000528.4(MAN2B1):c.2013del:p.Pro671_Val672insTer	coding	Pathogenic
19	12656680	AC	A	C12656682T	MAN2B1	NM_000528.4(MAN2B1):c.1534del:p.Val512fs	coding	Pathogenic
19	12657460	A	AG	C12657462G	MAN2B1	NM_000528.4(MAN2B1):c.1404dup:p.Trp469fs	coding	Pathogenic
19	12657475	GGC	G	C12657481T	MAN2B1	NM_000528.4(MAN2B1):c.1384_1385GC[2]:p.Arg463fs	coding	Pathogenic/Likely_pathogenic
19	12658230	GA	G	A12658232G	MAN2B1	NM_000528.4(MAN2B1):c.1223del:p.Phe408fs	coding	Pathogenic
19	12658468	C	CG	T12658474G	MAN2B1	NM_000528.4(MAN2B1):c.1068dup:p.Ala357fs	coding	Pathogenic
19	12663329	C	CA	C12663331A	MAN2B1	NM_000528.4(MAN2B1):c.896dup:p.Ala300fs	coding	Pathogenic
19	12663736	T	TAA	G12663737A	MAN2B1	NM_000528.4(MAN2B1):c.729_730insTT:p.Ser244fs	coding	Pathogenic
19	12664955	AC	A	C12664958A	MAN2B1	NM_000528.4(MAN2B1):c.466del:p.Trp155_Val156insTer	coding	Pathogenic
19	12665361	CA	C	A12665363G	MAN2B1	NM_000528.4(MAN2B1):c.426del:p.Val143fs	coding	Pathogenic
19	12665365	GT	G	T12665366C	MAN2B1	NM_000528.4(MAN2B1):c.422del:p.Asp141fs	coding	Pathogenic/Likely_pathogenic
19	12715037	CCAT	C	C12715038G	TNPO2	NM_013433.5(TNPO2):c.771+7_771+9del	noncoding	Benign
19	12807212	A	AG	A12807214G	RNASEH2A	NM_006397.2(RNASEH2A):c.207dup:p.Thr70fs	coding	Pathogenic
19	12810354	TG	T	G12810356A	RNASEH2A	NM_006397.3(RNASEH2A):c.589del:p.Glu197fs	coding	Pathogenic
19	12813158	G	GGC	A12813163G	RNASEH2A	NM_006397.2(RNASEH2A):c.714_715GC[3]:p.Thr240fs	coding	Pathogenic
19	12851983	TGAA	T	A12851988T	MAST1	NM_014975.3(MAST1):c.826_828AAG[1]:p.Lys277del	coding	Pathogenic
19	12851989	AGTT	A	T12851991C	MAST1	NM_014975.3(MAST1):c.832_834del:p.Leu279del	coding	Pathogenic
19	12885019	T	TC	A12885022C	KLF1	NM_006563.4(KLF1):c.954dup:p.Arg319fs	coding	Pathogenic
19	12885660	AG	A	G12885662C	KLF1	NM_006563.5(KLF1):c.569del:p.Pro190fs	coding	Pathogenic
19	12885704	C	CGGCGCCG	C12885715G	KLF1	NM_006563.4(KLF1):c.519_525dup:p.Gly176fs	coding	Benign
19	12891381	CG	C	G12891383C	GCDH	NM_000159.4(GCDH):c.79del:p.Ala27fs	coding	Pathogenic/Likely_pathogenic
19	12891500	AAC	A	C12891504G	GCDH	NM_000159.4(GCDH):c.109_110del:p.Gln37fs	coding	Pathogenic
19	12891920	AC	A	C12891922T	GCDH	NM_000159.4(GCDH):c.219del:p.Tyr74fs	coding	Pathogenic/Likely_pathogenic
19	12892171	CATCA	C	T12892173A	GCDH	NM_000159.4(GCDH):c.329_332del:p.Ile110fs	coding	Pathogenic/Likely_pathogenic
19	12893570	TGAGTGTCCAGTCCTCCCTCGTCATGCACCCTATCTATGCCTATGGCAGCGAGGAACAGCGGCAGAAGTACCTGCCCCAGCTGGGTGAGTGGCTGCCCATGGGGCCTGGTGGAAGGAAGACAGTCTCTGAGGTCTGGAACTCAAGGGTGGGGCTGTCCCCTGAGCCTATTCTGTCCCTATCTCAAAGATAGCATAAGTGGCCACCTGGACCCCCGCCAGACCCTGGGCTTCACCTGGAGATCTGATCCCTGGCCAGCCTGACTGTCCCCCTCTGTGACCACCGTCATCTCCCTATGCTTTCTGTGTTCCCCAGTCCAGCCCAAAGTTTAAAGTCCACCAGGTTCCTGCTGGCCATTTGCAGTGGCTCACACCTATAATCCCAGCACTTTGGGAGGGTGAAGTGAGAAGATCCCTTGAGCCCAAGAGTTCGAAACCAGCCTGGGCAACGTAAGGAGACCCCATGTCTATTAGAAAAACAAAAAAAGGAAAGAGCCTATGTGACCTGCGCTAAGTGGACGTTGGCCCTCTTCCGTGGTGTCTCGGAGGTGTTCAGCTGCTTCAAGATGAAGCTGAACATCTCCTTCCCAGCCACTGGCTGCCAGAAACTCATTGAAGTGGACGATGAACGCAAACTTTGTACTTTTTATGAGAAGCGTATGGCCACAGAAGTTGCTGTTGACGCTCTGGGTGAAGAATGGAAGGGTTACGTGGTCGGAATCAGTGGTGGGAACAATAAACAAGGTTTCCCCTTGAAACAGGGTGTCTTGACCCATGGCCGTGTCCACTTGCTACTGAGTAAGGGGCATTCCTATTACAGACCAAGGAGAACTGGAGAAAGAAAGAGAAGATCAGTTCATGGTTGCATCGTGGATGCCAATCTGAGTGTTCTCAACTTGGTTATTGTAAAAAAAAGGAGAGAAGGGTATTCCTGGACTGACTGAGACTATGATGCCTCGTCACCTGGGGCCCAGTACAGCTAGCAGAATCCGTAAACTTTTCAGTCTCTCTAAAGAAAATGATGTCTGCCAGTATGTTGTAAAAAAGCCCTTAAACAAAGAAGGTAAGAAACCTAGGACCAAAGCACCCAAGATTCAGCGCCTTGTCACTCCACATGTCCTGCAGCACAAACAGCGGCGTATTGCTCTGAAGCAGCCGCATATTAAGAAAAATAAAGAAGAGGCTGCAGAATATGCTAAACTTTTGGCCAAGAGAATGAAGGAGGCTAAGAAGCACCAGGGACAAATCGTGAAGAGACGCAGACTGTCCTCTCTGCGAGCTTCCACTTCTAAGTCTGAATCCAGTCAGAAATAAGATTTTTTGAGTAACAAATAAGATCAGATTCGCAAAAAAAAAAAAAAACCCACAAGGCCCTGTGTGACCAGGCCTCTGCTGACCTTTCCACCTCATCTCTGGCCACTCATGTGATCCTCCCAGCCAGACTTAGCTACTTGAAATTCTCCAGAAGTACCACCAGTTCTTTACACATCTGTTCCCTCTCCCAGCACTGCTCTTCCCCACAGCCTCCTCCTGCTTAACTCCTCACACCCTTCCAGTTTGGCCAACTCCTTCCTGATTCCCTGGGTCCCCCTCCCCATCTTGGCATTGTGATCATGACTTTGGGGTAACCTGTCTCTTGAAAGCAGGGCCAGATCTAACTTAGTTATGAGGTCTGACTCAGGGGCGAGGGTAATTTTTTTTTTCTTTTTTTGAGACAAAGTCCCGCTCCGTCCCCCAGGCTGAAGTGCAGTGGTACAATCTTGGCTCACTGCAACCTGCGGTTCCCCAGTTCAAGCAATTCCTGTGCCTCGGCCTCCCAATTAGCTGGGATTGCAGGTGCTTGCTACCCGTGCCTGGCTAATTTTTGTATTTTTAGTAGAGATGGTGTTTCACTATGTTGGCCAGGCTGGTCTCGAACTCCAGACCTCAAGTGATCCATCTGCCTTGGCCTCCCAAAGTGCTGAGATTACATGTGTGAGCCACCTCGACTGGCCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATATTGGTCAGGCTGGATTTTTTTTCTTTTTTGAGATGGAGTCTTGCTCTGTTGCCCAGGCTGTAGTGCAGTGGCATGATCTTGGCTCACTGCAACCTCTCCTGCCCGGGTTCAAGCGATTCTCCTGCCTCAGTCTCCTGAGTAGCTGGGATTACAGGCACCCACCACCACATCTGGCTATTTTTTTTTTTTTTTTTTTTTAAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTGGAACTCCTGACCTCAATTGATCCACCTGCCTTGGCCTCCTAAAGTGCTGGGATGACAGGCGTGAGCCACTGCACCCCGCCACGAGGATAATTTTTGAGTAAGGGGATGTATCAGGGACCAGGCAGCCTTGTGACTTTGTCTTGTGCCTGCAGCCAAGGGGGAGCTCCTGGGCTGCTTCGGGCTCACAGAGCCCAACAGCGGAAGTGACCCCAGCAGCATGGAGACCAGAGCCCACTACAACTCATCCAACAAGAGCTACACCCTCAATGGGACCAAGACCTGGTAAGGGTTCTGGGTGGTGGGCAGGTGGTGAACAGGGGCAAAGGGGCACTGGTCAGACCCCTCACCGACTGTTCCATCCCCAGGATCACGAACTCGCCTATGGCCGATCTGTTTGTAGTGTGGGCTCGGTGTGAAGATGGCTGCATTCGGGGCTTCCTGCTGGAGAAGGGGATGCGGGGTCTCTCGGCCCCCAGGATCCAGGGCAAGTTCTCGCTGCGGGCCTCAGCCACAGGCATGATCATCATGGACGGTGTGGAGGTGCCAGAGGAGAATGTGCTCCCTGGTGCATCCAGCCTGGGGGTAAGTGGCAGCCACTTTGGGAATGGGTGTTGGGTCACCTGCGGATGCGGCTTTGTCAGGCAGGCTCCGTGCTGGGGACGCGGCTCCCTGTGCCTGTGGAGCCCACACAGTGGTGATTCTTACTCAGCCGGACTCGCTGACGTGCTGAAAACTGCCCCCATTTGGTGACCGTCTCGCTCATCCCGGCTCTGCCCGGGACACATGGGCCTGAACCAGCTCAGTCATTTGACTCACAGTGCATCTTCTGGCATCCGTCAGCCTCCTGGCTCTGAGCATCGAACCCAGATGCCAGGCTGGGTGGGACTGTGTGCAAACCGAGTGAGCAGGCACCGAGCTTCAGTGCCAGGGCCATCTGTGATGTGAACCACAACCTGAGTCCCCCTGCGTGGGGTGGCTGGGGAGGAGGCTTTCCCTGCTTCAGAGTTGGTTCTGCATAGGCCCTCTTGGTGTCTCTTGGGTGGGCCTGAGGCGCCATCTCAACCCTACAGGGTCCCTTCGGCTGCCTGAACAACGCCCGGTACGGCATCGCGTGGGGCGTGCTTGGAGCTTCGGAGTTCTGCTTGCACACAGCCCGGCAGTACGCCCTCGACAGGTGTGTGAGGGCTGCAGTGAGATTCTCTGGGGGTGTGGGGCAGCTTGGGTTTCACTCTCTATACCATGGGTGACTCCCCAGCCCCCACCCACCAGGCCTGAGTTCCTTGCTCTGGAATGACCAGTGACGTCCTTCTGAGCAGCTGTGGGCTGAGTCAACGGCAGGGCCAGGGCAAGCTTGGGGGCACTGAGGCAGCCTGGGAAGGCGTCCTGGAGCAGGGGGCCCCAGGACAGGGACGGGGTGGGA	T	T12893576G	GCDH	NM_000159.4(GCDH):c.428_957-39del	coding	Pathogenic
19	12896034	ACAGCGGAAGTGACCCCAG	A	G12896039A	GCDH	NM_000159.4(GCDH):c.553_570del:p.Gly185_Ser190del	coding	Pathogenic
19	12896296	CG	C	G12896300T	GCDH	NM_000159.4(GCDH):c.731del:p.Gly244fs	coding	Pathogenic
19	12896355	C	CATGATCATCCT	A12896365C	GCDH	NM_000159.4(GCDH):c.795_796insCTATGATCATC:p.Met266delinsLeuTer	coding	Pathogenic
19	12896416	CT	C	T12896417G	GCDH	NM_000159.4(GCDH):c.848del:p.Leu283fs	coding	Pathogenic/Likely_pathogenic
19	12896915	C	CT	C12896918T	GCDH	NM_000159.4(GCDH):c.860dup:p.Gly288fs	coding	Pathogenic
19	12896988	A	AC	A12896990C	GCDH	NM_000159.4(GCDH):c.932dup:p.Ala312fs	coding	Pathogenic
19	12897786	TG	T	G12897793A	GCDH	NM_000159.4(GCDH):c.1173del:p.Asn392fs	coding	Pathogenic/Likely_pathogenic
19	12897786	T	TG	A12897794G	GCDH	NM_000159.4(GCDH):c.1173dup:p.Asn392fs	coding	Pathogenic/Likely_pathogenic
19	12943750	AGCAGAGGCTTAAGGAGGAGGAAGAAGACAAGAAACGCAAAGAGGAGGAGGAG	A	C12943758A	CALR	NM_004343.3(CALR):c.1092_1143del52:p.Leu367Thrfs	coding	Pathogenic
19	13074004	ATCACCTCCCCTCCT	A	A13074007C	NFIX	NM_002501.4(NFIX):c.799_812del:p.Thr267fs	coding	Pathogenic
19	13074581	ATTGGAAAGGCTAGAGTGGGGGAGGGCCTGGAGGGTGGGGTGGATGGAGAGGGAGGGAGCTGCTTGGGAGGCAGGGATGTGGGTTCTGGCCAGGGCAAGTTGTGCTGGGCAGGGTCCACTCCACTTTTTTTTTTTTTTTAAAACGGGTGTTTATATTAATTGCGAGATTTTTGGCATTCATTTTGATTTTTTAAAAATATGGGACTAGGCCAGGCTCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGATGGGCGGATCACGAGGTCAGGAGATTGAGACCATCCTGGCTAACACGGTGAAACCCCATCTCTACTAAAAAATACAAAAAATTAGCCAGGCGTGGTGGTGGGCACCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAAAGGTGTGAACCCAGGAGGCGGAGCTTGCAGTGAGCTGAGATCACGCCACTGCACTCCAGCCTGGGTGACAGAGCGAGACTCCATCTAAAAAAAAAAAAAAAAAAAAAGGAACTAAAATATTCTTTATATTGATGACTGAGTTTTATGGCATTTTTGTCCCCCTGACATTTTTGTCCCTCTGACATTTTTGTCCCTGTGAGTACGTCATTCACCTCACCCTAGCCCTGGGGGCTGCCAGGAAATCATAGGTGGGATACAGGAGGCAGCTGAGGGTTTTGCCGACTTCTCTGATGTGGGCAGCTTGGAGGACCGTGGCATCACAGATTGGGAAGGGGCTTGAGGAAGAGGAGCAGGTTGAAGCTGATGGCTTGAGGGGCCCTAGGGCTGATCTTGGGGTTGGGCACGCAGTGAGTGCCCAGAAATGCTGCTGTCGGCCGGCACCACTCCCCACCCAGAGGGCCATCTATGCACAGTTCTTTAGCCTGGACTCTTGGTCACTCCCTGGAGCCTCAGCCCATCCTTGGCCCATGTGACCCTTTCTTTCTTCCCCAGCACCACCAAGCGCCCCAAGTCCATCGATGACAGTGAGATGGAGAGCCCTGTTGATGACGTGTTCTATCCCGGGACAGGCCGTTCCCCAGCAGCTGGCAGCAGCCAGTCCAGCGGGTGGCCCAACGATGTGGATGCAGGTATGGGTGCGGGGGATCCTGACCCAGAGCAAGGGCAGCCCAGAGTCTTTTTGTCCCCTTCTCAGTTCACCTGGTGAGCCTCCCACCAGTTGTCCCCCTGTCGGGGGGCATTACCCATCTGTTTTCTTGCCTCCTGATCTTCCAGGGAGGGCAGAGCAGGCTGAAGGAAGGGAGTGGAGGTGAGGGTGAGGAGGGGTGCTGTGAGAGTCAGCAGCAGAGCCCGTGGTATGGCGGTGGGAAGCAGAGGGGGTGCCAAGCCTCTGGTGCCCCACAGTGGGATGGCCGCAGCCCCTCCTGGTATTTCTCTAGAGGTTGCCCCACCCCGTGGCCTCATGGTTGAAAGCAGTTTCTCACCCTGGGGGCTCATCATTCTGTGTAGGGGATTGTTCTGTGCATGGCAGGATGTTTAGCAGCATCCCTGGCCTCCACCTACAAGATGCCAGCAGCAAAACCCCCACCCCCAGTTTTGATGACCAAAAACGCCTCCAGACATTGTCAGACGTTCCCTAGTGGGATGGAATCCTCCCAGGATGAGAACCACTGGTCTCAAGGGCCCAGCTTCACAGAGAGAGGCTCAGAGTCTAGTGAAGAATGAGCAGAGTCCTTTTGAGACCAGGTAGGGAAGCTAGCGAAGGGGAGAGAGTACAGAGGAAGCCAGCTCAGACCTTCCCAGTCTCCTCTAGGGATCTTCTTCTTGTTGAACCCACCCCCCTTCACCTCCATTCTTGACTGAGGGTGCAGACAGACCTAGAGAGGACTCTGGAAGACAGCATGTAACACGTGCGTGTGTGTGTGTGCATGTGCATGAGCACATGTGTGTGAGGAGGCTGGCCGCAAGAGTCCCCCGCTGACGTGCCAGTGGTACAGCCCGTGTTTATCCTCACTGTGGGTGTGACAGGGCCTGGGAGTGCAGACTCACGCGTGTGGGTTGTGCACAGGGCATGGCTGCTCTGGACAGGCCTGGGCCCTGGGCATCATTCTCCTCCTCCAAAAGGTGAGGGTCTGACCTAATGGTACTTTGTCTGATGTTTTCCAGATATGCCCCTACTGGGAAGGGCCAAGTGGGCAGGCAGAGTCTGGGGTGGAGCGAGGTGGGGCTGGGAAGCACTCCTGCTTTTCTGCTGCCCCAGAACGAATGCAAGTTCTGGCAGCTTCTCCTCCTCCTGGGAGGAGGAAAGGAGGGCTCGCCTCCAGGCCTCAGGCTGAGGGAGTGGGCTGGAGACCCTCTAGATGGCCAGCAGAGGCTGGCCTCTGTGAGAAGGCTTCCTTGCGTGACTCTGGGGCCCCTCCCAGGCTCTCCTCGTGGCAGGCAGGGACTTGGGCCAGCATGGGCCACATGCTTCCCTAGGGGAGCCTTGAGAGGCAGAGAGAGGAGTTGAGAAGGCCCGGGAGACTCTTGGGCTACATCCTGGGTCCCTGGCCGGGGCCTCAGTAGGTGACCCCTTCTGCAAGGACTGCCCCTGGGGTGCATAGAGGACTGTGTCTGCAGCTGGCTCCTGGGGCAAGGGCTCCTGGGCTCCTGTGCCCAGACCTAATTCCTGAGGAGCCCCCCTCTTCCTGGCTCCTGCTCTCTCCTTTCTTGGCTGTCTGCTTTTGCGCCTGCCATTTCTGCATTTCTGCTCCTTCCGGCAGTCCTGCCACGCACGGCCCCTCAACATCCTCCTGCAGCACCCTCCGGCTCCCTTTTCCCCTCACCCCGCTGTGTGTTGTTTTCATGGGCTGCAACAAATTGCCAATTAAGCAGCCCAGCTGCAGGACAGGGAACAGCTGGGGAGGCACTGTGCGGCCATGGGGACAGCTGTGCACAGCTGGTAGGATGCTCCCCCCTCCCCACTGTGCCAGCTATCAGGTGGCACACAGCTGCTGCCAGATAACACCTCCGCTGGCGGCTGGGAGTTCGCCCTTCCCCCGCCCCTTCCCTCTGCAGTTAAGATGGCTCTTTATTTCTCTGTTCTGCAGCCCCTCCACCCCTCACCCAAACTGACTTGATTTGTCCTCCAAGGGTGGCAGCTGTGAGATCTGCCCCAACTCTACCTTATCCTTCCCAGCCTGGGCACAACCTTAAAGCTCAGCCCAAGATGGGAGCTGATCTTTCCAGAAGAACCTGGCCCCCTGGGGGCCCTGCTTTGTCAT	A	A13074587T	NFIX	NM_001365902.3(NFIX):c.818+561_956-804del	noncoding	Pathogenic
19	13075617	TC	T	C13075621A	NFIX	NM_002501.4(NFIX):c.905del:p.Pro302fs	coding	Pathogenic
19	13075641	T	TC	A13075644C	NFIX	NM_002501.4(NFIX):c.927dup:p.Ser310fs	coding	Pathogenic
19	13075647	GGGTGGCCCAAC	G	G13075649A	NFIX	NM_002501.4(NFIX):c.933_943del:p.Trp312fs	coding	Pathogenic
19	13075665	GATGCA	G	A13075666G	NFIX	NM_002501.4(NFIX):c.950_954del:p.Asp317fs	coding	Pathogenic
19	13078613	G	GC	G13078617C	NFIX	NM_002501.4(NFIX):c.959dup:p.Ala321fs	coding	Pathogenic
19	13078625	TAA	T	A13078627G	NFIX	NM_002501.4(NFIX):c.970_971del:p.Lys324fs	coding	Pathogenic
19	13078650	C	CT	G13078652T	NFIX	NM_002501.4(NFIX):c.994dup:p.Cys332fs	coding	Pathogenic
19	13078658	CCCTCT	C	C13078665A	NFIX	NM_002501.4(NFIX):c.1003_1007CTCTC[1]:p.Ser337fs	coding	Pathogenic
19	13078664	CCT	C	T13078668A	NFIX	NM_002501.4(NFIX):c.1009_1010TC[1]:p.Gln338fs	coding	Pathogenic
19	13078669	CAG	C	A13078670G	NFIX	NM_001365902.3(NFIX):c.1013_1014del:p.Gln338fs	coding	Pathogenic
19	13078691	C	CT	C13078695T	NFIX	NM_002501.4(NFIX):c.1037dup:p.Thr347fs	coding	Pathogenic
19	13078703	A	AC	G13078707C	NFIX	NM_002501.4(NFIX):c.1049dup:p.Leu351fs	coding	Pathogenic
19	13081678	AG	A	G13081681A	NFIX	NM_001271043.2(NFIX):c.1104delG	noncoding	Pathogenic
19	13081679	GGGAGCCCCCGGGCCACA	G	G13081681C	NFIX	NM_002501.4(NFIX):c.1080_1096del:p.Ser361fs	coding	Pathogenic
19	13081683	G	GC	G13081689C	NFIX	NM_002501.4(NFIX):c.1087dup:p.Arg363fs	coding	Pathogenic
19	13081713	T	TC	T13081718C	NFIX	NM_002501.4(NFIX):c.1116dup:p.Ser373fs	coding	Pathogenic
19	13081731	T	TCCAGCAG	T13081739C	NFIX	NM_002501.4(NFIX):c.1131_1137dup:p.Ser380fs	coding	Pathogenic
19	13081779	AC	A	C13081781A	NFIX	NM_002501.4(NFIX):c.1180del:p.His394fs	coding	Pathogenic
19	13081786	CG	C	G13081789C	NFIX	NM_001365902.3(NFIX):c.1188del:p.Gln397fs	coding	Pathogenic
19	13081803	A	AG	A13081806G	NFIX	NM_001365902.3(NFIX):c.1204dup:p.Glu402fs	coding	Pathogenic
19	13081842	AG	A	G13081844C	NFIX	NM_002501.4(NFIX):c.1243del:p.Ala415fs	coding	Pathogenic
19	13090348	AC	A	C13090352G	NFIX	NM_002501.4(NFIX):c.1308del:p.Thr438fs	coding	Pathogenic
19	13104971	A	AG	T13104979G	TRMT1	NM_001136035.4(TRMT1):c.1943dup:p.Gly649fs	coding	Pathogenic
19	13109444	TAC	T	C13109446G	TRMT1	NM_001136035.3(TRMT1):c.1332_1333del:p.Tyr445fs	coding	Pathogenic
19	13112964	ATGACGTCAAACCTCTCCGACACCCTCTGGTGC	A	A13112967G	TRMT1	NM_001351762.2(TRMT1):c.-114_-83del	coding	Pathogenic
19	13115766	TG	T	G13115767A	TRMT1	NM_001136035.4(TRMT1):c.312del:p.Lys105fs	coding	Pathogenic
19	13207858	C	CCTG	G13207899T	CACNA1A;LOC108663985	NM_001127221.1(CACNA1A):c.*149_*151CAG[14]	coding	Benign
19	13208877	GGAT	G	A13208879G	CACNA1A	NM_001127222.2(CACNA1A):c.6656_6658del:p.His2219del	coding	Benign/Likely_benign
19	13208879	ATGG	A	G13208906C	CACNA1A	NM_001127222.2(CACNA1A):c.6630_6632CCA[8]:p.His2219del	coding	Benign/Likely_benign
19	13209348	C	CA	G13209350A	CACNA1A	NM_001127222.2(CACNA1A):c.6489dup:p.Glu2164Ter	coding	Pathogenic
19	13209469	AC	A	C13209470G	CACNA1A	NM_001127222.2(CACNA1A):c.6368del:p.Arg2123fs	coding	Pathogenic
19	13212417	A	AG	C13212424G	CACNA1A	NM_001127222.2(CACNA1A):c.6155dup:p.Thr2053fs	coding	Pathogenic
19	13224760	TC	T	C13224762G	CACNA1A	NM_001127222.2(CACNA1A):c.5637del:p.Met1880fs	coding	Pathogenic
19	13228766	CTG	C	G13228768A	CACNA1A	NM_001127222.2(CACNA1A):c.5529-1241_5529-1240del	coding	Pathogenic
19	13231767	AC	A	C13231768A	CACNA1A	NM_001127222.2(CACNA1A):c.5342del:p.Cys1781fs	coding	Pathogenic
19	13234731	TCCCCTACCGGAAGAGAAGGGCACGC	T	G13234744A	CACNA1A	NM_001127222.2(CACNA1A):c.5249+165_5249+189del	noncoding	Benign
19	13253014	TC	T	C13253015A	CACNA1A	NM_001127222.2(CACNA1A):c.4842del:p.Val1616fs	coding	Pathogenic
19	13255155	C	CG	A13255158G	CACNA1A	NM_001127222.2(CACNA1A):c.4694dup:p.Pro1566fs	coding	Pathogenic
19	13257399	TGG	T	G13257400A	CACNA1A	NM_001127222.2(CACNA1A):c.4539_4540del:p.Phe1513fs	coding	Pathogenic
19	13257436	CAAA	C	A13257437G	CACNA1A	NM_001127222.2(CACNA1A):c.4501_4503del:p.Phe1501del	coding	Pathogenic
19	13257437	AAAG	A	A13257444G	CACNA1A	NM_001127222.2(CACNA1A):c.4494_4496CTT[2]:p.Phe1501del	coding	Pathogenic
19	13257505	TG	T	G13257509C	CACNA1A	NM_001127222.2(CACNA1A):c.4434del:p.Ser1479fs	coding	Pathogenic
19	13275913	C	CG	A13275916G	CACNA1A	NM_001127222.2(CACNA1A):c.3925dup:p.Arg1309fs	coding	Pathogenic
19	13283294	AG	A	G13283297T	CACNA1A	NM_001127222.2(CACNA1A):c.3794del:p.Pro1265fs	coding	Pathogenic
19	13285067	C	CG	T13285071G	CACNA1A	NM_001127222.2(CACNA1A):c.3694dup:p.Leu1232fs	coding	Pathogenic
19	13285153	CCTT	C	T13285159C	CACNA1A	NM_001127222.2(CACNA1A):c.3601_3603AAG[1]:p.Lys1202del	coding	Benign
19	13285166	CTCTT	C	C13285168T	CACNA1A	NM_001127222.2(CACNA1A):c.3590_3593del:p.Lys1197fs	coding	Pathogenic
19	13285181	TG	T	G13285184T	CACNA1A	NM_001127222.2(CACNA1A):c.3578del:p.Pro1193fs	coding	Pathogenic
19	13286522	GA	G	A13286523G	CACNA1A	NM_001127222.2(CACNA1A):c.3533del:p.Leu1178fs	coding	Pathogenic
19	13286523	A	AG	T13286531G	CACNA1A	NM_001127222.2(CACNA1A):c.3532dup:p.Leu1178fs	coding	Pathogenic
19	13286523	AG	A	G13286530T	CACNA1A	NM_001127222.2(CACNA1A):c.3532del:p.Leu1178fs	coding	Pathogenic
19	13286644	TG	T	G13286651C	CACNA1A	NM_001127222.2(CACNA1A):c.3411del:p.Lys1138fs	coding	Pathogenic
19	13286840	CT	C	T13286842G	CACNA1A	NM_001127222.2(CACNA1A):c.3215del:p.Lys1072fs	coding	Pathogenic
19	13286952	G	GA	G13286954A	CACNA1A	NM_001127222.2(CACNA1A):c.3103dup:p.Ser1035fs	coding	Pathogenic
19	13298673	C	CGG	C13298677G	CACNA1A	NM_001127222.2(CACNA1A):c.2958_2959dup:p.Arg987fs	coding	Pathogenic
19	13298703	GCCCTCCGCTCCGCCTTGTCCTCCGGA	G	G13298710T	CACNA1A	NM_001127222.2(CACNA1A):c.2904_2929del:p.Pro969fs	coding	Pathogenic
19	13298729	AC	A	C13298732T	CACNA1A	NM_001127222.2(CACNA1A):c.2903del:p.Gly968fs	coding	Pathogenic
19	13298767	GA	G	A13298768T	CACNA1A	NM_001127222.2(CACNA1A):c.2865del:p.Arg956fs	coding	Pathogenic
19	13298779	CCGCGCCCGTG	C	C13298784G	CACNA1A	NM_001127222.2(CACNA1A):c.2844_2853del:p.Ala951fs	coding	Pathogenic
19	13298818	T	TGCCCCCCTGCC	G13298831C	CACNA1A	NM_001127222.2(CACNA1A):c.2804_2814dup:p.Ser939fs	coding	Pathogenic
19	13298819	G	GC	T13298826C	CACNA1A	NM_001127222.2(CACNA1A):c.2813dup:p.Ser939fs	coding	Pathogenic
19	13298847	T	TA	G13298848A	CACNA1A	NM_001127222.2(CACNA1A):c.2785_2786insT:p.His929fs	coding	Pathogenic
19	13298894	GGG	AGA	G13298894A	CACNA1A	NM_001127222.2(CACNA1A):c.2737_2739delinsTCT:p.Pro913Ser	coding	Benign/Likely_benign
19	13299275	CA	C	A13299277G	CACNA1A	NM_001127222.2(CACNA1A):c.2357del:p.Leu786fs	coding	Pathogenic
19	13299295	C	CACTGGTCCGCTGCTCCCACACGGACTTG	G13299324A	CACNA1A	NM_001127222.2(CACNA1A):c.2310_2337dup:p.Glu780delinsGlnValArgValGlyAlaAlaAspGlnTer	coding	Pathogenic
19	13299314	CAC	GT	C13299314G	CACNA1A	NM_001127222.2(CACNA1A):c.2317_2319delinsAC:p.Val773fs	coding	Pathogenic
19	13299320	CT	C	T13299322G	CACNA1A	NM_001127222.2(CACNA1A):c.2312del:p.Lys771fs	coding	Pathogenic
19	13303830	CCT	C	C13303831G	CACNA1A	NM_001127222.2(CACNA1A):c.2039_2040del:p.Gln680fs	coding	Pathogenic
19	13303831	CT	C	T13303832G	CACNA1A	NM_001127222.2(CACNA1A):c.2039del:p.Gln680fs	coding	Pathogenic
19	13307845	GA	G	A13307848T	CACNA1A	NM_001127222.2(CACNA1A):c.1922del:p.Phe641fs	coding	Pathogenic
19	13308415	CT	C	T13308418G	CACNA1A	NM_001127222.2(CACNA1A):c.1781del:p.Lys594fs	coding	Pathogenic
19	13312689	AG	A	G13312691A	CACNA1A	NM_001127222.2(CACNA1A):c.1647del:p.Phe550fs	coding	Pathogenic
19	13312702	G	GT	A13312704T	CACNA1A	NM_001127222.2(CACNA1A):c.1634dup:p.Tyr545Ter	coding	Pathogenic
19	13317145	AGTGAACAATAGCAACACACAGC	A	A13317149T	CACNA1A	NM_001127222.2(CACNA1A):c.1500_1521del:p.Leu501fs	coding	Pathogenic/Likely_pathogenic
19	13317186	CTG	C	T13317187A	CACNA1A	NM_001127222.2(CACNA1A):c.1479_1480del:p.Ser494fs	coding	Pathogenic
19	13317227	GC	G	C13317228G	CACNA1A	NM_001127222.2(CACNA1A):c.1439del:p.Arg480fs	coding	Pathogenic
19	13317254	C	CT	G13317260T	CACNA1A	NM_001127222.2(CACNA1A):c.1412dup:p.Glu472fs	coding	Pathogenic
19	13330171	C	CT	G13330173T	CACNA1A	NM_001127222.2(CACNA1A):c.1345+72dup	noncoding	Benign
19	13332875	A	AGG	A13332879G	CACNA1A	NM_001127222.2(CACNA1A):c.1247_1248dup:p.Phe417fs	coding	Pathogenic
19	13359652	ACAGT	A	T13359656C	CACNA1A	NM_001127222.2(CACNA1A):c.928_931del:p.Thr310fs	coding	Pathogenic
19	13359918	CA	C	A13359919G	CACNA1A	NM_001127222.2(CACNA1A):c.785-120del	noncoding	Benign
19	13506183	TC	T	C13506188G	CACNA1A	NM_001127222.2(CACNA1A):c.41del:p.Gly14fs	coding	Pathogenic
19	13877367	T	TGGAGCCGGTGTCAGCGCC	C13877383G	NANOS3	NM_001098622.2(NANOS3):c.134_135insGCCGGAGCCGGTGTCAGC:p.Leu46_Glu47insProGluProValSerAla	coding	Benign
19	13877744	C	CGAG	C13877763G	NANOS3	NC_000019.10:g.13877745_13877747GAG[7]	coding	Benign
19	13929637	AG	A	G13929643T	CC2D1A	NM_017721.5(CC2D1A):c.2693del:p.Gly898fs	coding	Pathogenic
19	13959894	A	AGGTGGGCCCAGGGCGGGCAG	C13959929G	DCAF15	NM_138353.3(DCAF15):c.1440+14_1440+33dup	coding	Benign
19	14097621	G	GCAC	A14097625C	PRKACA	NM_002730.4(PRKACA):c.597_599dup:p.Cys200_Gly201insTrp	coding	Pathogenic
19	14752360	AAG	A	A14752363G	ADGRE2	NM_013447.4(ADGRE2):c.1753_1754CT[1]:p.Phe586fs	coding	Benign
19	15160935	T	TG	C15160942G	NOTCH3	NM_000435.3(NOTCH3):c.6692dup:p.Ala2233fs	coding	Pathogenic
19	15161001	C	CG	C15161007G	NOTCH3	NM_000435.3(NOTCH3):c.6626dup:p.Pro2210fs	coding	Pathogenic
19	15161050	GGTCCCGGCGCCAGTGGCAGCAGGAACGAGGGGCCTGGAGGGGCAGGTGGGGGCAGCCGGGCCCAATCGAGGGGCACAGCC	G	G15161051A	NOTCH3	NM_000435.3(NOTCH3):c.6498_6577del:p.Ala2167fs	coding	Pathogenic
19	15161064	T	TGGCA	C15161070G	NOTCH3	NM_000435.3(NOTCH3):c.6560_6563dup:p.Leu2189fs	coding	Pathogenic
19	15161119	A	AG	C15161124G	NOTCH3	NM_000435.3(NOTCH3):c.6508dup:p.Leu2170fs	coding	Pathogenic
19	15161141	GCAGGCCCAGGCTGAGTACACATCCTC	G	C15161146G	NOTCH3	NM_000435.3(NOTCH3):c.6461_6486del:p.Gly2154fs	coding	Pathogenic
19	15191788	ATCCACGCATGTCCCCCCATTGAGACATCGGTGTCCTGGACAGTCG	A	C15191795T	NOTCH3	NM_000435.3(NOTCH3):c.714_758del:p.Asp239_Asp253del	coding	Pathogenic
19	15268960	TGAGCATTCCA	T	A15268962T	BRD4	NM_058243.2(BRD4):c.358_367del:p.Trp120fs	coding	Pathogenic
19	15525394	C	CG	C15525396G	CYP4F22	NM_173483.4(CYP4F22):c.59dup:p.Ile21fs	coding	Pathogenic
19	15537539	T	TG	C15537543G	CYP4F22	NM_173483.4(CYP4F22):c.429dup:p.Leu144fs	coding	Pathogenic
19	15537606	TTTGACA	CTTGATT	T15537606C	CYP4F22	NM_173483.4(CYP4F22):c.493_499delinsCTTGATT:p.Phe165_Ile167delinsLeuAspPhe	coding	Pathogenic
19	15537961	ATG	A	G15537965C	CYP4F22	NM_173483.4(CYP4F22):c.641_642GT[1]:p.Val215fs	coding	Pathogenic
19	15540491	CTCTG	C	T15540498C	CYP4F22	NM_173483.4(CYP4F22):c.716_719TGTC[1]:p.Val241fs	coding	Pathogenic
19	15540728	GCC	G	C15540732T	CYP4F22	NM_173483.4(CYP4F22):c.939+15_939+16del	noncoding	Benign
19	15544010	GC	G	C15544012G	CYP4F22	NM_173483.4(CYP4F22):c.981del:p.Glu328fs	coding	Pathogenic
19	15548089	ATATCTCCATTCTCCC	A	T15548090C	CYP4F22	NM_173483.4(CYP4F22):c.1137-18_1137-4del	noncoding	Pathogenic
19	15548106	AG	A	G15548109A	CYP4F22	NM_173483.3(CYP4F22):c.1138del:p.Asp380Thrfs	noncoding	Pathogenic
19	16970892	T	TG	T16970900G	CPAMD8	NM_015692.5(CPAMD8):c.2211dup:p.Arg738fs	coding	Pathogenic
19	17337643	AA	GTG	A17337643G	GTPBP3	NM_032620.4(GTPBP3):c.32_33delinsGTG:p.Gln11fs	coding	Pathogenic
19	17341117	CT	C	T17341118G	GTPBP3	NM_032620.4(GTPBP3):c.1049del:p.Leu350fs	coding	Pathogenic
19	17341512	A	AC	G17341516C	GTPBP3	NM_032620.4(GTPBP3):c.1291dup:p.Arg431fs	coding	Pathogenic
19	17577428	AG	A	G17577430A	COLGALT1	NM_024656.4(COLGALT1):c.1096del:p.Glu366fs	coding	Pathogenic
19	17783101	T	TG	T17783103G	FCHO1	NM_001161358.2(FCHO1):c.2023dup:p.Val675fs	coding	Pathogenic
19	17824775	CAA	C	A17824778T	JAK3	NM_000215.3(JAK3):c.*1966_*1967delTT	noncoding	Benign
19	17824777	A	AAC	A17824779C	JAK3	NM_000215.3(JAK3):c.*1965_*1966insGT	noncoding	Benign
19	17826515	CAGAG	C	A17826518C	JAK3	NM_000215.3(JAK3):c.*224_*227delCTCT	noncoding	Benign
19	17831271	CTT	C	T17831273G	JAK3	NM_000215.4(JAK3):c.2933_2934del:p.Lys978fs	coding	Pathogenic
19	17836061	A	AG	C17836063G	JAK3	NM_000215.3(JAK3):c.1787-11dup	noncoding	Benign
19	17837936	ATGCAGTTCT	A	C17837939T	JAK3	NM_000215.3(JAK3):c.1688_1696del:p.Lys563_Cys565del	coding	Pathogenic
19	17837940	AGTTCT	TCTCACCTCCA	A17837940T	JAK3	NM_000215.3(JAK3):c.1688_1693delinsTGGAGGTGAGA:p.Lys563fs	coding	Pathogenic
19	17838268	CCAG	GTCA	C17838268G	JAK3	NM_000215.3(JAK3):c.1561_1564delinsTGAC:p.Leu521_Glu522delinsTer	coding	Pathogenic
19	17839485	C	CT	G17839487T	JAK3	NM_000215.3(JAK3):c.1432dup:p.Arg478fs	coding	Pathogenic
19	17842497	CAG	C	A17842498G	JAK3	NM_000215.3(JAK3):c.678_679del:p.Cys227fs	coding	Pathogenic/Likely_pathogenic
19	17843760	TG	T	G17843766C	JAK3	NM_000215.3(JAK3):c.308+16del	noncoding	Benign
19	17844243	TGGC	T	G17844244A	JAK3	NM_000215.3(JAK3):c.172_174del:p.Ala58del	coding	Pathogenic
19	17844302	TG	T	G17844309C	JAK3	NM_000215.3(JAK3):c.115del:p.Gln39fs	coding	Pathogenic
19	17872466	CG	C	G17872471C	SLC5A5	NM_000453.3(SLC5A5):c.152del:p.Gly51fs	coding	Pathogenic
19	18061147	GC	G	C18061148G	IL12RB1	NM_005535.3(IL12RB1):c.1765del:p.Ala589fs	coding	Pathogenic
19	18062272	GC	AA	G18062272A	IL12RB1	NM_005535.3(IL12RB1):c.1623_1624delinsTT:p.Gln542Ter	coding	Pathogenic
19	18063890	TGGGGCT	CGG	T18063890C	IL12RB1	NM_005535.3(IL12RB1):c.1598_1604delinsCCG:p.Gln533fs	coding	Pathogenic
19	18068436	AGCTTCTCGGGGTGC	A	T18068439A	IL12RB1	NM_005535.3(IL12RB1):c.1266_1279del:p.Pro424fs	coding	Pathogenic
19	18080986	GCGCC	G	C18080989G	IL12RB1	NM_005535.3(IL12RB1):c.251_254del:p.Gly84fs	coding	Pathogenic
19	18082219	CT	C	T18082220G	IL12RB1	NM_005535.3(IL12RB1):c.169del:p.Ser57fs	coding	Pathogenic
19	18596660	T	TC	A18596662C	CRLF1	NM_004750.5(CRLF1):c.985dup:p.Glu329fs	coding	Pathogenic
19	18596662	A	AC	T18596664C	CRLF1	NM_004750.5(CRLF1):c.983dup:p.Ser328fs	coding	Pathogenic
19	18596781	CGTCCACCA	C	G18596782C	CRLF1	NM_004750.5(CRLF1):c.857_864del:p.Val286fs	coding	Pathogenic
19	18596900	CCA	C	A18596904T	CRLF1	NM_004750.5(CRLF1):c.843_844TG[1]:p.Val282fs	coding	Pathogenic
19	18596917	CG	C	G18596919T	CRLF1	NM_004750.5(CRLF1):c.829del:p.Arg277fs	coding	Pathogenic
19	18597033	C	CG	T18597040G	CRLF1	NM_004750.5(CRLF1):c.713dup:p.Pro239fs	coding	Pathogenic
19	18598452	G	GT	G18598454T	CRLF1	NM_004750.5(CRLF1):c.676dup:p.Thr226fs	coding	Pathogenic
19	18599658	TG	T	G18599660C	CRLF1	NM_004750.5(CRLF1):c.303del:p.Asn102fs	coding	Pathogenic
19	18606579	GAGC	G	C18606591G	CRLF1	NM_004750.5(CRLF1):c.66_68GCT[3]:p.Leu26del	coding	Benign
19	18606603	CGGCGGCGGCCGCCGCGCGGATTG	C	C18606612G	CRLF1	NM_004750.5(CRLF1):c.31_53del:p.Gln11fs	coding	Pathogenic
19	18783057	T	TG	C18783059G	COMP	NM_000095.3(COMP):c.2223dup:p.Asn742fs	coding	Pathogenic
19	18786034	TGTC	T	T18786048C	COMP	NM_000095.3(COMP):c.1405_1407GAC[4]:p.Asp473del	coding	Pathogenic
19	18786034	T	TGTC	C18786051T	COMP	NM_000095.2(COMP):c.1417_1419dupGAC:p.Asp473_Asn474insAsp	coding	Pathogenic
19	18786034	T	TGTCGTC	C18786051T	COMP	NM_000095.3(COMP):c.1405_1407GAC[7]:p.Asp472_Asp473dup	coding	Pathogenic
19	18786080	GTCC	G	C18786085G	COMP	NM_000095.3(COMP):c.1368_1370GGA[1]:p.Glu457del	coding	Pathogenic
19	18786627	AGTT	A	T18786630C	COMP	NM_000095.3(COMP):c.1156_1158del:p.Asn386del	coding	Pathogenic
19	18788425	CTCCGGGCAGCGCAGCTTCTCG	C	C18788432A	COMP	NM_000095.3(COMP):c.831_851del:p.Asp277_Pro283del	coding	Pathogenic
19	18868623	CCAT	C	C18868624G	GDF1	NM_001492.6(GDF1):c.1090_1092del:p.Met364del	coding	Pathogenic
19	18868665	CAAAG	C	A18868668G	GDF1	NM_001492.6(GDF1):c.1047_1050del:p.Phe349fs	coding	Pathogenic/Likely_pathogenic
19	18868806	C	CG	C18868810G	GDF1	NM_001492.6(GDF1):c.909dup:p.Val304fs	coding	Pathogenic
19	18869048	G	GC	G18869052C	GDF1	NM_001492.6(GDF1):c.667dup:p.Ala223fs	coding	Pathogenic
19	18869129	G	GCGCGCACTGGCGGCCCCAGGGCGGGCACCAACTGGCGGAGCAGCACCGGCCCGGGGTCCGCGCC	C18869199A	GDF1	NM_001492.6(GDF1):c.523_586dup:p.Ala196fs	coding	Pathogenic
19	18869245	T	TGCC	G18869263C	GDF1;CERS1	NM_001492.6(GDF1):c.456_458GGC[6]:p.Ala158dup	coding	Benign
19	18870018	AC	A	C18870023A	GDF1	NM_001492.6(GDF1):c.289del:p.Val97fs	coding	Pathogenic
19	19197046	T	TCTGCC	G19197047C	RFXANK	NM_003721.4(RFXANK):c.271_271+1insCTGCC	coding	Pathogenic
19	19320880	AGCGGCCCAGGCGGCG	A	G19320892T	MAU2	NM_015329.4(MAU2):c.33_47del:p.8_12AAQAA[1]	coding	Benign
19	29699482	CAAA	C	A29699494G	C19orf12	NM_001256047.1(C19orf12):c.*3227_*3229del	noncoding	Benign
19	29699615	A	AC	T29699616C	C19orf12	NM_001256047.1(C19orf12):c.*3096_*3097insG	noncoding	Benign
19	29699921	G	GA	G29699926A	C19orf12	NM_001256047.1(C19orf12):c.*2790dup	noncoding	Benign
19	29702766	C	CA	T29702768A	C19orf12	NM_031448.5(C19orf12):c.371dup:p.Met124fs	coding	Pathogenic/Likely_pathogenic
19	29702904	CAT	C	A29702905T	C19orf12	NM_001256047.1(C19orf12):c.232_233del:p.Met78fs	coding	Pathogenic
19	29702912	TC	ACTGTTCCTCCA	T29702912A	C19orf12	NM_001031726.3(C19orf12):c.258_259delinsTGGAGGAACAGT:p.Gln86fs	coding	Pathogenic
19	29702933	GTCCACTTGTCA	G	C29702938G	C19orf12	NM_001256047.1(C19orf12):c.194_204del:p.Met65fs	coding	Pathogenic
19	29702956	AACAGCCCCCCG	A	G29702967C	C19orf12	NM_031448.6(C19orf12):c.171_181del:p.Gly58fs	coding	Pathogenic
19	29702971	GCCC	G	C29702976T	C19orf12	NM_001031726.3(C19orf12):c.197_199del	coding	Pathogenic
19	29702978	CT	C	T29702979A	C19orf12	NM_001031726.3(C19orf12):c.194-2del	noncoding	Pathogenic
19	32676454	A	AC	G32676457C	RGS9BP	NM_207391.3(RGS9BP):c.193dup:p.Arg65fs	coding	Pathogenic
19	32862207	C	CT	G32862211T	SLC7A9	NM_014270.5(SLC7A9):c.614dup:p.Asn206fs	coding	Pathogenic
19	32862209	TTG	T	G32862213T	SLC7A9	NM_014270.5(SLC7A9):c.609_610CA[1]:p.Thr204fs	coding	Pathogenic
19	32862539	CG	C	G32862540T	SLC7A9	NM_014270.5(SLC7A9):c.525del:p.Ser174_Tyr175insTer	coding	Pathogenic
19	32864161	GCA	G	C32864168T	SLC7A9	NM_014270.5(SLC7A9):c.411_412del:p.Pro139fs	coding	Pathogenic
19	33301423	A	AGCTGTTCCACCCGCTTGCGCAGGCGGTCATTGTCACTGGTCAGCTCCAGCACCTTCT	C33301485T	CEBPA	NM_004364.4(CEBPA):c.935_991dup:p.Gln312_Gln330dup	coding	Pathogenic
19	33301463	T	TCAGCTCCAGCACCTTCTGCTGCGTCTC	C33301493G	CEBPA	NM_004364.4(CEBPA):c.925_951dup:p.Glu309_Leu317dup	coding	Pathogenic
19	33301825	G	GGCGGGT	A33301847G	CEBPA	NM_004364.5(CEBPA):c.572_577ACCCGC[4]:p.191_192HP[4]	coding	Benign/Likely_benign
19	33302075	CCGCGGGCG	C	G33302079C	CEBPA	NM_001285829.1(CEBPA):c.-26_-19del	coding	Pathogenic
19	33302095	T	TCA	A33302098C	CEBPA	NM_004364.4(CEBPA):c.318_319dupTG:p.Asp107Valfs*54	coding	Pathogenic
19	33302197	A	AG	A33302198G	CEBPA	NM_004364.4(CEBPA):c.217_218insC:p.Phe73fs	coding	Pathogenic
19	33302200	G	GCGGC	G33302208C	CEBPA	NM_001285829.1(CEBPA):c.-147_-144dup	coding	Pathogenic
19	33302208	GT	G	T33302209C	CEBPA	NM_004364.5(CEBPA):c.206del:p.Asp69fs	coding	Pathogenic
19	33302213	T	TGTAG	C33302219T	CEBPA	NM_004364.4(CEBPA):c.198_201dupCTAC:p.Ile68Leufs*41	coding	Pathogenic
19	33302273	CG	C	G33302275C	CEBPA	NM_001285829.1(CEBPA):c.-217del	coding	Pathogenic
19	33302293	TGCGCGGG	T	G33302296C	CEBPA	NM_001285829.1(CEBPA):c.-243_-237del	coding	Pathogenic
19	33302295	C	CG	C33302297G	CEBPA	NM_004364.4(CEBPA):c.119dup:p.Gln41fs	coding	Pathogenic
19	33302346	C	CG	C33302353G	CEBPA	NM_004364.4(CEBPA):c.68dupC:p.His24Alafs	coding	Pathogenic
19	33302346	CG	C	G33302352C	CEBPA	NM_001285829.1(CEBPA):c.-290del	coding	Pathogenic
19	33387006	G	GAAAGT	T33387013A	PEPD	NM_000285.4(PEPD):c.*333_*337dup	noncoding	Benign
19	33387165	G	GTAAT	A33387173T	PEPD	NM_000285.4(PEPD):c.*175_*178dup	noncoding	Benign
19	33387464	GTCC	G	C33387470G	PEPD	NM_000285.4(PEPD):c.1356_1358GGA[1]:p.Glu453del	coding	Pathogenic
19	33413620	GAGT	G	T33413623C	PEPD	NM_000285.4(PEPD):c.692_694del:p.Tyr231del	coding	Pathogenic/Likely_pathogenic
19	33463987	C	CTCACGGTGGGCCT	C33464001T	PEPD	NM_000285.4(PEPD):c.611_623dup:p.Val209_Met210insGlyProProTer	coding	Pathogenic
19	33478053	CG	C	G33478054A	PEPD	NM_000285.4(PEPD):c.540del:p.Ile180fs	coding	Pathogenic
19	35033637	TC	T	C35033638G	SCN1B	NM_001037.5(SCN1B):c.347del:p.Ser116fs	coding	Pathogenic
19	35284790	CG	C	G35284793A	HAMP	NM_021175.4(HAMP):c.95del:p.Gly32fs	coding	Pathogenic
19	35299646	C	CCTGAG	G35299660A	MAG	NM_002361.4(MAG):c.512_516AGCTG[3]:p.Trp174Ter	coding	Pathogenic
19	35511468	A	ACCACTGCTGCCG	T35511503C	DMKN	NM_033317.5(DMKN):c.837_848CGGCAGCAGTGG[3]:p.280_283GSSG[4]	coding	Benign
19	35718020	T	TGGCGGCGGCGGCG	A35718043G	KMT2B	NM_014727.2(KMT2B):c.12_24dup:p.Ser9fs	coding	Pathogenic
19	35718023	C	CGGCGGCGGCG	A35718043G	KMT2B	NM_014727.3(KMT2B):c.15_24dup:p.Ser9fs	coding	Pathogenic
19	35718132	CG	C	G35718136C	KMT2B	NM_014727.3(KMT2B):c.118del:p.Ala40fs	coding	Pathogenic
19	35719502	G	GC	A35719508C	KMT2B	NM_014727.2(KMT2B):c.402dup:p.Ser135fs	coding	Pathogenic
19	35719861	A	AC	A35719869C	KMT2B	NM_014727.2(KMT2B):c.521dup:p.Thr176fs	coding	Pathogenic
19	35719995	C	CA	C35719996A	KMT2B	NM_014727.3(KMT2B):c.648_649insA:p.Arg217fs	coding	Pathogenic
19	35720472	CAAGG	C	A35720474G	KMT2B	NM_014727.3(KMT2B):c.1127_1130del:p.Lys376fs	coding	Pathogenic
19	35723467	TAG	T	A35723470G	KMT2B	NM_014727.3(KMT2B):c.3024_3025AG[1]:p.Glu1009fs	coding	Pathogenic
19	35723811	CCGGGGGG	C	G35723816A	KMT2B	NM_014727.3(KMT2B):c.3143_3149del:p.Gly1048fs	coding	Pathogenic
19	35723812	C	CG	C35723819G	KMT2B	NM_014727.3(KMT2B):c.3145dup:p.Ala1049fs	coding	Pathogenic
19	35724627	TCCTGCCTAGAGCTGCCACTGCCAGAACCTGAGGAGCAG	T	C35724628A	KMT2B	NM_014727.3(KMT2B):c.3335-9_3363del	noncoding	Pathogenic
19	35724630	TG	T	G35724631C	KMT2B	NM_014727.3(KMT2B):c.3335-6del	noncoding	Benign
19	35732265	TTCCCAGCTCCCCCCAGACGTTCCCGTCG	T	T35732273C	KMT2B	NM_014727.2(KMT2B):c.5724_5751del:p.Pro1909fs	coding	Pathogenic
19	35732782	C	CTCGGGGCCAGGGCACGCCTCCT	A35732816G	KMT2B	NM_014727.2(KMT2B):c.6245_6266dup:p.Val2090fs	coding	Pathogenic
19	35732954	AC	A	C35732955T	KMT2B	NM_014727.2(KMT2B):c.6406del:p.Leu2136fs	coding	Pathogenic
19	35733066	C	CA	G35733067A	KMT2B	NM_014727.3(KMT2B):c.6517_6518insA:p.Arg2173fs	coding	Pathogenic
19	35736799	G	GT	C35736802T	KMT2B	NM_014727.2(KMT2B):c.7271dup:p.Ser2425fs	coding	Pathogenic
19	35746417	A	AG	T35746424G	PSENEN	NM_172341.3(PSENEN):c.66dup:p.Phe23Valfs	noncoding	Pathogenic
19	35746417	AG	A	G35746423T	PSENEN	NM_172341.3(PSENEN):c.66del:p.Phe23Leufs	noncoding	Pathogenic
19	35746818	TC	T	C35746820T	PSENEN	NM_172341.4(PSENEN):c.279del:p.Phe94fs	coding	Pathogenic
19	35830889	G	GT	A35830891T	NPHS1	NM_004646.3(NPHS1):c.3548dup:p.Tyr1183Ter	coding	Pathogenic/Likely_pathogenic
19	35830913	CAA	C	A35830914G	NPHS1	NM_004646.3(NPHS1):c.3523_3524del:p.Leu1175fs	coding	Pathogenic
19	35831347	GT	G	T35831349C	NPHS1	NM_004646.4(NPHS1):c.3335del:p.Asn1112fs	coding	Pathogenic
19	35831678	A	AC	G35831686C	NPHS1	NM_004646.3(NPHS1):c.3250dup:p.Val1084fs	coding	Pathogenic
19	35831678	AC	A	C35831685G	NPHS1	NM_004646.3(NPHS1):c.3250del:p.Val1084fs	coding	Pathogenic
19	35839569	GACTCACA	G	T35839572C	NPHS1	NM_004646.3(NPHS1):c.2847_2853del:p.Val949_Val950insTer	coding	Pathogenic
19	35842153	G	GT	G35842160T	NPHS1	NM_004646.3(NPHS1):c.2633dup:p.Asn878fs	coding	Pathogenic
19	35842179	T	TGG	A35842184G	NPHS1	NM_004646.3(NPHS1):c.2606_2607dup:p.Asn870fs	coding	Pathogenic
19	35842243	CTTAG	C	T35842248G	NPHS1	NM_004646.3(NPHS1):c.2536_2539CTAA[1]:p.Thr847fs	coding	Pathogenic
19	35842271	TG	T	G35842277C	NPHS1	NM_004646.3(NPHS1):c.2515del:p.Gln839fs	coding	Pathogenic
19	35845472	AG	A	G35845474A	NPHS1	NM_004646.4(NPHS1):c.1825del:p.Leu609fs	coding	Pathogenic
19	35845482	TG	T	G35845484C	NPHS1	NM_004646.4(NPHS1):c.1815del:p.Arg606fs	coding	Pathogenic
19	35845512	TCCGGGGTGGGGCGGCCACGCCCTCCAGCCTGTGGAA	T	G35845520C	NPHS1	NM_004646.3(NPHS1):c.1758-8_1785del	coding	Pathogenic
19	35846153	CG	C	G35846154A	NPHS1	NM_004646.3(NPHS1):c.1481del:p.Ser494fs	coding	Pathogenic
19	35848332	AC	A	C35848334G	NPHS1	NM_004646.4(NPHS1):c.1235del:p.Gly412fs	coding	Pathogenic
19	35848395	TC	T	C35848398T	NPHS1	NC_000019.10:g.35848398del	coding	Pathogenic
19	35849641	CCGGGGTG	AA	C35849641A	NPHS1	NM_004646.3(NPHS1):c.614_621delinsTT:p.Thr205_Arg207delinsIle	coding	Pathogenic
19	35850437	TC	T	C35850438T	NPHS1	NM_004646.3(NPHS1):c.534del:p.Thr179fs	coding	Pathogenic/Likely_pathogenic
19	35850969	ATGG	A	G35850972A	NPHS1	NM_004646.3(NPHS1):c.515_517del:p.Thr172del	coding	Pathogenic/Likely_pathogenic
19	35851591	GC	G	C35851596T	NPHS1	NM_004646.3(NPHS1):c.139del:p.Ala47fs	coding	Pathogenic/Likely_pathogenic
19	35851608	CAG	C	A35851609G	NPHS1	NM_004646.3(NPHS1):c.121_122del:p.Leu41fs	coding	Pathogenic
19	35907533	TC	T	C35907534A	TYROBP	NM_003332.4(TYROBP):c.141del:p.Met48fs	coding	Pathogenic/Likely_pathogenic
19	36006841	AGGGCTGCCCAGGCCCT	A	G36006847C	SYNE4	NM_001039876.3(SYNE4):c.511_526del:p.Arg171fs	coding	Pathogenic
19	36008266	CAT	C	A36008267C	SYNE4	NM_001039876.3(SYNE4):c.228_229del:p.Trp77fs	coding	Pathogenic
19	36008559	G	GCT	C36008565T	SYNE4	NM_001039876.3(SYNE4):c.119_120AG[3]:p.Ser41fs	coding	Pathogenic
19	36065987	CT	C	T36065988G	WDR62	NM_001083961.2(WDR62):c.363del:p.Asp122fs	coding	Pathogenic
19	36067412	TC	T	C36067413T	WDR62	NM_001083961.2(WDR62):c.669del:p.Trp224fs	coding	Pathogenic
19	36086719	C	CGGCT	A36086725G	WDR62	NM_001083961.2(WDR62):c.1677_1680dup:p.Ile561fs	coding	Pathogenic
19	36089087	C	CT	C36089091T	WDR62	NM_001083961.2(WDR62):c.1821dup:p.Arg608fs	coding	Pathogenic
19	36091247	CA	C	A36091251G	WDR62	NM_001083961.2(WDR62):c.2086del:p.Ser696fs	coding	Pathogenic
19	36091248	A	AAAAGCAT	C36091256A	WDR62	NM_001083961.2(WDR62):c.2084_2090dup:p.Ser698fs	coding	Pathogenic
19	36092520	GA	G	A36092521T	WDR62	NM_001083961.2(WDR62):c.2211-168del	noncoding	Benign
19	36094209	CAT	C	A36094210T	WDR62	NM_001083961.2(WDR62):c.2467+46_2467+47del	noncoding	Benign
19	36100749	CAG	C	A36100754T	WDR62	NM_001083961.2(WDR62):c.2742_2743AG[2]:p.Gln918fs	coding	Pathogenic
19	36101700	T	TCGCAGCCATCCACTCCCCAGCTC	C36101727A	WDR62	NM_001083961.2(WDR62):c.3012_3034dup:p.Pro1012fs	coding	Pathogenic
19	36102784	GACC	G	C36102787T	WDR62	NM_001083961.2(WDR62):c.3271_3273del:p.His1091del	coding	Benign/Likely_benign
19	36103665	GGGCCAAGAGCCTGCCCT	G	G36103667C	WDR62	NM_001083961.2(WDR62):c.3839_3855del:p.Gly1280fs	coding	Pathogenic
19	36103758	G	GC	G36103765C	WDR62	NM_001083961.2(WDR62):c.3936dup:p.Val1313fs	coding	Pathogenic
19	36104568	GTGCC	G	T36104569G	WDR62	NM_001083961.2(WDR62):c.4205_4208del:p.Val1402fs	coding	Pathogenic
19	36104585	G	GC	A36104591C	WDR62	NM_001083961.2(WDR62):c.4226dup:p.Ser1410fs	coding	Pathogenic
19	36104604	C	CT	G36104606T	WDR62	NM_001083961.2(WDR62):c.4241dup:p.Ser1415fs	coding	Pathogenic
19	36104628	CA	GTGGTCTGAG	C36104628G	WDR62	NM_001083961.2(WDR62):c.4264_4265delinsGTGGTCTGAG:p.His1422delinsValValTer	coding	Pathogenic
19	37388950	C	CTGTG	C37388951T	ZNF527	NM_032453.2(ZNF527):c.901_902insTGTG:p.Pro301fs	coding	Benign
19	37388952	AT	A	T37388953A	ZNF527	NM_032453.2(ZNF527):c.904del:p.Tyr302fs	coding	Benign
19	38081727	G	GGCCACC	A38081758G	SIPA1L3	NM_015073.3(SIPA1L3):c.163_168GCCACC[6]:p.55_56AT[6]	coding	Benign
19	38309515	C	CA	G38309517A	YIF1B	NM_001039672.3(YIF1B):c.186dup:p.Ala63fs	coding	Pathogenic
19	38385765	A	AGCCGGGGATGGGGCCGGGGCCGGG	T38385787G	GGN	NM_152657.4(GGN):c.1496_1497insCCCGGCCCCGGCCCCATCCCCGGC:p.Ala495_Pro502dup	coding	Benign
19	38448671	AGC	A	C38448673G	RYR1	NM_000540.3(RYR1):c.982_983del:p.Arg328fs	coding	Pathogenic
19	38451857	AC	A	C38451859A	RYR1	NM_000540.2(RYR1):c.1218del:p.Asn407fs	coding	Pathogenic
19	38452836	G	GCGGGAAGCCA	G38452851A	RYR1	NM_000540.3(RYR1):c.1267_1276dup:p.Gly426fs	coding	Pathogenic
19	38455634	C	CA	T38455636A	RYR1	NM_000540.3(RYR1):c.1675dup:p.Ile559fs	coding	Pathogenic
19	38455697	G	GAATC	C38455703A	RYR1	NM_001042723.2(RYR1):c.1739_1742dup:p.His581fs	coding	Pathogenic
19	38457579	TGCCTG	T	T38457583G	RYR1	NM_000540.2(RYR1):c.1878_1882del:p.Pro626_Gly627insTer	coding	Pathogenic
19	38457593	CT	C	T38457595C	RYR1	NM_000540.3(RYR1):c.1890del:p.Leu631fs	coding	Pathogenic
19	38458183	CCT	C	T38458185A	RYR1	NM_000540.3(RYR1):c.2060_2061del:p.Leu687fs	coding	Pathogenic
19	38458215	CCGGCGAGGGCTGGGGCGGCAACGGGGT	C	G38458222T	RYR1	NM_000540.2(RYR1):c.2097_2123del:p.Glu699_Gly707del	coding	Pathogenic
19	38460513	C	CCG	G38460516C	RYR1	NM_000540.3(RYR1):c.2500_2501dup:p.Pro836fs	coding	Pathogenic
19	38463428	CCTG	GCT	C38463428G	RYR1	NM_000540.2(RYR1):c.2583_2586delinsGCT:p.Pro863fs	coding	Pathogenic
19	38466203	TG	T	G38466206C	RYR1	NM_000540.3(RYR1):c.2986del:p.Ala996fs	coding	Pathogenic
19	38469433	ATGCAGCGCCCAGTC	A	T38469434A	RYR1	NM_000540.2(RYR1):c.3686_3699del:p.Met1229fs	coding	Pathogenic
19	38473406	G	GC	T38473413C	RYR1	NM_001042723.2(RYR1):c.3801dup:p.Cys1268fs	coding	Pathogenic/Likely_pathogenic
19	38473588	AACCCG	A	G38473593T	RYR1	NM_000540.2(RYR1):c.3982_3986del:p.Pro1327_Asp1328insTer	coding	Pathogenic
19	38473682	CG	C	G38473687C	RYR1	NM_000540.2(RYR1):c.4076del:p.Gly1359fs	coding	Pathogenic
19	38473689	A	AC	G38473694C	RYR1	NM_000540.3(RYR1):c.4082dup:p.Gln1362fs	coding	Pathogenic
19	38473699	C	CG	A38473706G	RYR1	NM_000540.2(RYR1):c.4094dup:p.Glu1366fs	coding	Pathogenic
19	38478434	G	GCCTCA	A38478440C	RYR1	NM_000540.2(RYR1):c.4455_4459dup:p.Lys1487fs	coding	Pathogenic
19	38478460	GTGTGGGGCGGAGACTT	G	G38478465A	RYR1	NM_000540.2(RYR1):c.4485_4500del:p.Val1494_Trp1495insTer	coding	Pathogenic
19	38478474	CTT	C	T38478476G	RYR1	NM_000540.2(RYR1):c.4496_4497del:p.Phe1499fs	coding	Pathogenic
19	38485732	CT	G	C38485732G	RYR1	NM_000540.3(RYR1):c.5077_5078delinsG:p.Leu1693fs	coding	Pathogenic
19	38485769	CACTGCGCG	C	A38485770C	RYR1	NM_000540.2(RYR1):c.5115_5122del:p.Leu1706fs	coding	Pathogenic
19	38485989	G	GC	T38485996C	RYR1	NM_000540.3(RYR1):c.5340dup:p.Cys1781fs	coding	Pathogenic
19	38485994	CCT	C	C38485995G	RYR1	NM_000540.2(RYR1):c.5340_5341del:p.Cys1781fs	coding	Pathogenic/Likely_pathogenic
19	38489246	GA	G	A38489247G	RYR1	NM_000540.3(RYR1):c.5618del:p.Glu1873fs	coding	Pathogenic
19	38490254	TC	T	C38490256G	RYR1	NM_000540.3(RYR1):c.5995del:p.Arg1999fs	coding	Pathogenic
19	38496866	A	AG	C38496870G	RYR1	NM_000540.2(RYR1):c.6806dup:p.Ser2270fs	coding	Pathogenic
19	38499145	G	GC	A38499150C	RYR1	NM_000540.3(RYR1):c.6933dup:p.Met2312fs	coding	Pathogenic
19	38499907	GC	G	C38499908T	RYR1	NM_000540.2(RYR1):c.7215del:p.Phe2406fs	coding	Pathogenic
19	38500834	GCAGCCAAAGATGT	G	C38500839A	RYR1	NM_000540.2(RYR1):c.7463_7475del:p.Pro2488fs	coding	Pathogenic/Likely_pathogenic
19	38502675	CTCACCAAG	C	T38502676G	RYR1	NM_000540.2(RYR1):c.7784_7791del:p.Leu2595fs	coding	Pathogenic
19	38504245	G	GT	G38504248T	RYR1	NM_000540.3(RYR1):c.7954dup:p.Trp2652fs	coding	Pathogenic
19	38504262	CT	A	C38504262A	RYR1	NM_001042723.2(RYR1):c.7969_7970delinsA:p.Leu2657fs	coding	Pathogenic/Likely_pathogenic
19	38504335	G	GCATCTTTGACTCTCTGGCC	A38504358C	RYR1	NM_000540.3(RYR1):c.8046_8064dup:p.Lys2689delinsLeuTer	coding	Pathogenic
19	38504715	ACCT	A	C38504719A	RYR1	NM_000540.3(RYR1):c.8068-29_8068-27del	noncoding	Benign
19	38504810	G	GC	G38504817C	RYR1	NM_000540.2(RYR1):c.8136dup:p.Asp2713fs	coding	Pathogenic
19	38505338	CAT	C	T38505340G	RYR1	NM_000540.2(RYR1):c.8342_8343del:p.Ile2781fs	coding	Pathogenic
19	38506335	G	GC	G38506342C	RYR1	NM_000540.3(RYR1):c.8580dup:p.Asp2861fs	coding	Pathogenic
19	38506520	A	AG	A38506522G	RYR1	NM_000540.2(RYR1):c.8667dup:p.Lys2890fs	coding	Pathogenic
19	38506947	T	TA	C38506949A	RYR1	NM_000540.2(RYR1):c.8812dup:p.Thr2938fs	coding	Pathogenic
19	38507824	CTGGGTAC	AAGCGG	C38507824A	RYR1	NM_000540.2(RYR1):c.8929_8932+4delinsAAGCGG	coding	Pathogenic
19	38507857	G	GC	A38507862C	RYR1	NM_000540.3(RYR1):c.8932+34dup	noncoding	Benign
19	38511598	GTC	G	C38511606T	RYR1	NM_001042723.2(RYR1):c.9162_9163CT[3]:p.Phe3057fs	coding	Pathogenic
19	38515097	T	TA	T38515099A	RYR1	NM_000540.3(RYR1):c.9545dup:p.Tyr3182Ter	coding	Pathogenic
19	38515103	G	GA	G38515108A	RYR1	NM_000540.3(RYR1):c.9554dup:p.Leu3186fs	coding	Pathogenic
19	38519354	GC	G	C38519357A	RYR1	NM_000540.2(RYR1):c.10162del:p.Gln3388fs	coding	Pathogenic
19	38525371	C	CG	A38525378G	RYR1	NM_000540.2(RYR1):c.10501dup:p.Asp3501fs	coding	Pathogenic/Likely_pathogenic
19	38527646	GGTCGAAGGCTCCCC	G	G38527650T	RYR1	NM_000540.2(RYR1):c.10690_10703del:p.Glu3564fs	coding	Pathogenic
19	38527656	TC	T	C38527660G	RYR1	NM_000540.3(RYR1):c.10700del:p.Pro3567fs	coding	Pathogenic
19	38527683	CTG	C	G38527685A	RYR1	NM_000540.2(RYR1):c.10725_10726del:p.Tyr3576fs	coding	Pathogenic
19	38528376	T	TC	G38528378C	RYR1	NM_000540.3(RYR1):c.10896dup:p.Val3633fs	coding	Pathogenic
19	38528619	TC	T	C38528621T	RYR1	NM_000540.3(RYR1):c.10960del:p.Leu3654fs	coding	Pathogenic
19	38534774	C	CG	C38534781G	RYR1	NM_000540.2(RYR1):c.11320dup:p.Ala3774fs	coding	Pathogenic
19	38534774	CG	C	G38534780C	RYR1	NM_001042723.2(RYR1):c.11305del:p.Ala3769fs	coding	Pathogenic/Likely_pathogenic
19	38548246	CG	C	G38548248C	RYR1	NM_000540.2(RYR1):c.12110del:p.Gly4037fs	coding	Pathogenic/Likely_pathogenic
19	38548378	AAC	A	A38548379G	RYR1	NM_000540.2(RYR1):c.12241_12242del:p.Thr4081fs	coding	Pathogenic
19	38561141	GTCCAGAAATCCAGT	G	A38561145T	RYR1	NM_000540.2(RYR1):c.12315_12328del:p.Glu4106fs	coding	Pathogenic
19	38561146	GA	G	A38561149T	RYR1	NM_000540.2(RYR1):c.12319del:p.Ile4107fs	coding	Pathogenic/Likely_pathogenic
19	38561315	TC	T	C38561317T	RYR1	NM_000540.3(RYR1):c.12487del:p.Leu4163fs	coding	Pathogenic
19	38561396	TC	T	C38561397G	RYR1	NM_000540.3(RYR1):c.12567del:p.Ile4189fs	coding	Pathogenic
19	38564973	GCGCCAGTTC	G	C38564974A	RYR1	NM_001042723.2(RYR1):c.12625_12633del:p.Arg4209_Phe4211del	coding	Pathogenic
19	38565311	GC	G	C38565312G	RYR1	NM_000540.2(RYR1):c.12978del:p.Glu4327fs	coding	Pathogenic
19	38565341	TCTGGGCAGCAGTGACGCGCG	T	C38565347G	RYR1	NM_001042723.2(RYR1):c.12998_13017del:p.Ala4333fs	coding	Pathogenic
19	38565389	CG	C	G38565392C	RYR1	NM_000540.3(RYR1):c.13058del:p.Gly4353fs	coding	Pathogenic
19	38565396	GCTGGGCCTGCT	G	C38565402G	RYR1	NM_000540.3(RYR1):c.13068_13078del:p.Leu4358fs	coding	Pathogenic
19	38565551	AG	A	G38565554T	RYR1	NM_000540.2(RYR1):c.13220del:p.Gly4407fs	coding	Pathogenic
19	38565626	C	CGGGCGGTGCCGACG	G38565649C	RYR1	NM_000540.3(RYR1):c.13301_13314dup:p.Ala4439fs	coding	Pathogenic
19	38565626	CG	C	G38565629C	RYR1	NM_000540.2(RYR1):c.13295del:p.Gly4432fs	coding	Pathogenic
19	38565653	TGACCGATGGGG	T	A38565655C	RYR1	NM_000540.3(RYR1):c.13321_13331del:p.Thr4441fs	coding	Pathogenic
19	38565665	GC	G	C38565669T	RYR1	NM_000540.2(RYR1):c.13335del:p.Phe4446fs	coding	Pathogenic
19	38567865	A	AAGCTGGAGGCGAATTCTGGGGAG	A38567890G	RYR1	NM_000540.2(RYR1):c.13609_13631dup:p.Val4547fs	coding	Pathogenic
19	38572052	GA	G	A38572054G	RYR1	NM_000540.2(RYR1):c.13782del:p.Gly4595fs	coding	Pathogenic
19	38572165	CT	C	T38572167C	RYR1	NM_000540.3(RYR1):c.13895del:p.Phe4632fs	coding	Pathogenic
19	38580007	T	TG	T38580010G	RYR1	NM_000540.2(RYR1):c.14392dup:p.Val4798fs	coding	Pathogenic
19	38580039	TT	AA	T38580039A	RYR1	NM_001042723.2(RYR1):c.14407_14408inv:p.Phe4803Asn	coding	Pathogenic/Likely_pathogenic
19	38580437	TC	AA	T38580437A	RYR1	NM_001042723.2(RYR1):c.14564_14565delinsAA:p.Phe4855Ter	coding	Pathogenic
19	38580444	GTTCTACAACAAGAGCGAGGAT	G	T38580445G	RYR1	NM_000540.2(RYR1):c.14587_14607del:p.Phe4863_Asp4869del	coding	Pathogenic
19	38584921	CCAGTGTGCTCCCCTCCCT	C	G38584928T	RYR1	NM_000540.3(RYR1):c.14647-15_14649del	noncoding	Pathogenic
19	38585055	CCTT	C	T38585066G	RYR1	NM_001042723.2(RYR1):c.14746_14748TTC[3]:p.Phe4919del	coding	Pathogenic/Likely_pathogenic
19	38585057	TT	AC	T38585057A	RYR1	NM_001042723.2(RYR1):c.14746_14747delinsAC:p.Phe4916Thr	coding	Pathogenic
19	38918406	CCA	C	C38918411G	SARS2	NM_017827.4(SARS2):c.916+10TG[2]	noncoding	Benign/Likely_benign
19	38922088	GT	G	T38922092A	SARS2	NM_017827.4(SARS2):c.393+149del	noncoding	Benign/Likely_benign
19	39453392	AAAG	A	A39453400G	SUPT5H	NM_001111020.3(SUPT5H):c.114_116AGA[2]:p.Glu41del	coding	Benign
19	39502998	C	CGCGGT	C39503009G	DLL3;PLEKHG2	NM_203486.3(DLL3):c.594_598GCGGT[3]:p.Pro202fs	coding	Pathogenic
19	39505302	CAT	C	A39505303G	DLL3	NM_203486.3(DLL3):c.945_946del:p.Ala317fs	coding	Pathogenic
19	39507229	G	GCGCGCGGACCCGTGCGC	C39507253G	DLL3	NM_203486.3(DLL3):c.1291_1307dup:p.Pro437fs	coding	Pathogenic
19	39507384	CG	C	G39507385C	DLL3	NM_203486.3(DLL3):c.1440del:p.Pro481fs	coding	Pathogenic
19	40394105	G	GACA	C40394109A	PRX	NM_020956.2(PRX):c.*4449_*4451dup	coding	Benign
19	40394272	TTCC	T	C40394293G	PLD3;PRX	NM_181882.3(PRX):c.4059_4061GGA[6]:p.Glu1361del	coding	Benign
19	40394740	CA	C	A40394741G	PRX	NM_020956.2(PRX):c.*3816del	coding	Pathogenic
19	40394764	TC	T	C40394766A	PLD3	NM_181882.3(PRX):c.3587del:p.Gly1196fs	coding	Pathogenic
19	40394995	ACTGACGGCCACAGCCCCCTCTGCCCTCCCTTCCTCCTGGGCGCCCAGCGTGACCAGCTCCACCTCGGGGAT	A	G40394998T	PRX	NM_020956.2(PRX):c.*3491_*3561del	coding	Pathogenic/Likely_pathogenic
19	40395153	CA	C	A40395156G	PLD3;PRX	NM_181882.3(PRX):c.3198del:p.Phe1066fs	coding	Pathogenic/Likely_pathogenic
19	40395337	G	GA	C40395338A	PRX	NM_020956.2(PRX):c.*3219_*3220insT	coding	Pathogenic
19	40395351	GGGCATCCA	G	A40395355T	PRX	NM_181882.3(PRX):c.2993_3000del:p.Leu998fs	coding	Pathogenic
19	40395498	C	CA	G40395500A	PRX	NM_020956.2(PRX):c.*3058dup	coding	Pathogenic
19	40395564	TG	T	G40395566A	PRX	NM_181882.3(PRX):c.2787del:p.Lys930fs	coding	Pathogenic
19	40396691	ATC	A	C40396695G	PRX	NM_181882.3(PRX):c.1659_1660del:p.Glu553fs	coding	Pathogenic
19	40397178	GA	G	A40397180G	PRX	NM_181882.3(PRX):c.1173del:p.Arg392fs	coding	Pathogenic
19	40397339	GC	G	C40397341A	PRX	NM_020956.2(PRX):c.*1217del	coding	Pathogenic
19	40397372	TC	T	C40397374A	PRX	NM_020956.2(PRX):c.*1184del	coding	Pathogenic
19	40397724	CG	C	G40397726C	PRX	NM_181882.3(PRX):c.627del:p.Ala210fs	coding	Pathogenic
19	40397893	AG	A	G40397897C	PRX	NM_181882.3(PRX):c.458del:p.Pro153fs	coding	Pathogenic
19	40398647	CT	C	T40398649G	PRX	NM_020956.2(PRX):c.353del:p.Lys118fs	coding	Pathogenic
19	40403712	G	GCAGGCTGAGGCTC	T40403727A	PRX	NM_020956.2(PRX):c.165_177dup:p.Gln60fs	coding	Pathogenic/Likely_pathogenic
19	40403764	G	GAT	T40403767A	PRX	NM_020956.2(PRX):c.124_125dup:p.Phe43fs	coding	Pathogenic
19	40403765	A	AGCAGC	T40403766G	PRX	NM_181882.3(PRX):c.124_125insGCTGC:p.Ile42fs	coding	Pathogenic
19	40403768	C	CCTCGCGCAGCTT	C40403770T	PRX	NM_181882.3(PRX):c.121_122insAAGCTGCGCGAG:p.Gly41_Ile42insGluAlaAlaArg	coding	Pathogenic
19	40512814	G	GGCGGGCGCA	A40512838C	SPTBN4	NM_020971.3(SPTBN4):c.2031_2039CGCAGCGGG[3]:p.675_677AAG[4]	coding	Benign
19	40512839	A	ACAGCGGGCGGCGCGCATGAC	T40512861A	SPTBN4	NM_020971.3(SPTBN4):c.2052_2071dup:p.Leu691fs	coding	Pathogenic
19	40523610	TC	T	C40523611A	SPTBN4	NM_020971.3(SPTBN4):c.3829del:p.Gln1277fs	coding	Pathogenic
19	40556088	CAG	C	G40556090T	SPTBN4	NM_020971.3(SPTBN4):c.5091_5092del:p.Gln1697fs	coding	Pathogenic
19	40600090	CT	C	T40600091G	LTBP4	NM_003573.2(LTBP4):c.254del:p.Leu85fs	coding	Pathogenic
19	40605735	TC	T	C40605739G	LTBP4	NM_001042545.2(LTBP4):c.701del:p.Pro234fs	coding	Pathogenic
19	40608533	TC	T	C40608537G	LTBP4	NM_001042545.2(LTBP4):c.1360del:p.Arg454fs	coding	Pathogenic
19	40617187	A	AG	T40617191G	LTBP4	NM_001042545.2(LTBP4):c.3035dup:p.Tyr1013fs	coding	Benign
19	40622646	CA	C	A40622647G	LTBP4	NM_001042545.2(LTBP4):c.3464del:p.Gln1155fs	coding	Pathogenic
19	40627013	G	GC	A40627015C	LTBP4	NM_001042545.2(LTBP4):c.4025dup:p.Tyr1343fs	coding	Pathogenic
19	40627020	G	GC	G40627027C	LTBP4	NM_001042545.2(LTBP4):c.4037dup:p.Arg1347fs	coding	Pathogenic
19	40692307	AAGGGCCC	A	A40692308T	COQ8B	NM_024876.4(COQ8B):c.1356_1362del:p.Gln452fs	coding	Pathogenic
19	40695998	A	AT	G40696000T	COQ8B	NM_024876.4(COQ8B):c.1199dup:p.His400fs	coding	Pathogenic
19	40700388	T	TGTC	G40700394C	COQ8B	NM_001142555.3(COQ8B):c.831_833dup:p.Thr278dup	coding	Pathogenic
19	40703786	CA	C	A40703789G	COQ8B	NM_024876.4(COQ8B):c.645del:p.Phe215fs	coding	Pathogenic
19	41116202	G	GC	A41116204C	CYP2F1	NM_000774.5(CYP2F1):c.15dup:p.Thr6fs	coding	Benign
19	41342037	TG	T	G41342039T	TGFB1	NM_000660.7(TGFB1):c.713-8del	noncoding	Benign
19	41353006	T	TAGCAGCAGC	G41353016A	TGFB1	NM_000660.7(TGFB1):c.30_32GCT[6]:p.Leu11_Leu13dup	coding	Pathogenic
19	41353214	CG	C	G41353219T	TGFB1	NM_000660.7(TGFB1):c.-171del	noncoding	Benign
19	41397840	AT	A	T41397841C	BCKDHA	NM_000709.4(BCKDHA):c.14del:p.Ile5fs	coding	Pathogenic
19	41410638	A	AC	A41410646C	BCKDHA	NM_000709.4(BCKDHA):c.117dup:p.Arg40fs	coding	Pathogenic
19	41410638	AC	A	C41410645A	BCKDHA	NM_000709.4(BCKDHA):c.117del:p.Arg40fs	coding	Pathogenic
19	41410670	CT	C	T41410671G	BCKDHA	NM_000709.4(BCKDHA):c.143del:p.Leu48fs	coding	Pathogenic
19	41414072	C	AA	C41414072A	BCKDHA	NM_000709.4(BCKDHA):c.399delinsAA:p.Asn134fs	coding	Pathogenic
19	41419156	AC	A	C41419161T	BCKDHA	NM_000709.4(BCKDHA):c.511del:p.Leu171fs	coding	Pathogenic/Likely_pathogenic
19	41419202	CT	C	T41419204G	BCKDHA	NM_000709.4(BCKDHA):c.554del:p.Leu185fs	coding	Pathogenic
19	41422175	GCGTA	G	T41422178C	BCKDHA	NM_000709.4(BCKDHA):c.661_664del:p.Tyr221fs	coding	Pathogenic
19	41422230	AG	A	G41422235C	BCKDHA	NM_000709.4(BCKDHA):c.718del:p.Ala240fs	coding	Pathogenic
19	41422257	A	AT	G41422259T	BCKDHA	NM_000709.4(BCKDHA):c.741dup:p.Ala248fs	coding	Pathogenic
19	41422312	GA	G	A41422314C	BCKDHA	NM_000709.4(BCKDHA):c.797del:p.Asn266fs	coding	Pathogenic
19	41422633	ACGAGGCCC	A	A41422636G	BCKDHA	NM_000709.4(BCKDHA):c.861_868del:p.Gly288fs	coding	Pathogenic
19	41422680	ATG	A	G41422684T	BCKDHA	NM_000709.4(BCKDHA):c.907_908GT[1]:p.Phe304fs	coding	Pathogenic
19	41422691	GT	G	T41422692A	BCKDHA	NM_000709.4(BCKDHA):c.917del:p.Val306fs	coding	Pathogenic
19	41422962	G	GC	A41422966C	BCKDHA	NM_000709.4(BCKDHA):c.996-33dup	noncoding	Benign/Likely_benign
19	41424578	GCA	G	A41424580T	BCKDHA	NM_000709.4(BCKDHA):c.1310_1311del:p.His437fs	coding	Pathogenic
19	41860143	A	AAGCC	C41860145G	RPS19	NM_001022.3(RPS19):c.-146_-145insGCCA	noncoding	Benign
19	41860786	T	TA	C41860788A	RPS19	NM_001022.4(RPS19):c.13dup:p.Thr5fs	coding	Pathogenic
19	41860789	TG	T	G41860790T	RPS19	NM_001022.4(RPS19):c.16del:p.Thr5_Val6insTer	coding	Pathogenic
19	41861144	A	AT	A41861146T	RPS19	NM_001022.4(RPS19):c.105dup:p.Thr36fs	coding	Pathogenic
19	41861166	CAA	C	A41861168G	RPS19	NM_001022.4(RPS19):c.128_129del:p.Lys43fs	coding	Pathogenic
19	41861168	AAG	A	A41861171C	RPS19	NM_001022.4(RPS19):c.129_130AG[1]:p.Glu44fs	coding	Pathogenic
19	41869113	C	CG	C41869116G	RPS19	NM_001022.4(RPS19):c.257dup:p.Val87fs	coding	Pathogenic
19	41869150	A	AGT	G41869156T	RPS19	NM_001022.4(RPS19):c.294_295TG[3]:p.Ala100fs	coding	Pathogenic
19	41869153	GT	CAGCCGA	G41869153C	RPS19	NM_001022.4(RPS19):c.295_296delinsCAGCCGA:p.Val99fs	coding	Pathogenic
19	41869162	CG	C	G41869165T	RPS19	NM_001022.4(RPS19):c.307del:p.Val103fs	coding	Pathogenic
19	41869708	A	ACT	G41869711C	RPS19	NM_001022.4(RPS19):c.367_368dup:p.Leu123_Thr124insTer	coding	Pathogenic
19	41869724	CAA	C	A41869726G	RPS19	NM_001022.4(RPS19):c.384_385del:p.Asp130fs	coding	Pathogenic
19	41966938	C	CAGT	G41966947T	ATP1A3	NM_152296.5(ATP1A3):c.3035_3037ACT[3]:p.Tyr1013dup	coding	Pathogenic
19	41968846	GGAC	G	G41968850A	ATP1A3	NM_152296.5(ATP1A3):c.2752_2754GTC[1]:p.Val919del	coding	Pathogenic
19	41970211	AGTCT	GA	A41970211G	ATP1A3	NM_152296.5(ATP1A3):c.2512_2516delinsTC:p.Arg838_Leu839delinsSer	coding	Pathogenic
19	41984929	CCAG	C	C41984933A	ATP1A3	NM_152296.5(ATP1A3):c.976_978CTG[1]:p.Leu327del	coding	Pathogenic
19	41985425	TG	T	G41985430T	ATP1A3	NM_152296.5(ATP1A3):c.607-3del	noncoding	Benign
19	42225153	TGAG	T	A42225158C	ZNF526	NM_133444.3(ZNF526):c.752_754AGG[1]:p.Glu252del	coding	Benign
19	42248909	CTT	C	T42248910G	ERF	NM_006494.4(ERF):c.1201_1202del:p.Lys401fs	coding	Pathogenic/Likely_pathogenic
19	42249219	CCT	C	C42249220G	ERF	NM_006494.4(ERF):c.891_892del:p.Gly299fs	coding	Pathogenic/Likely_pathogenic
19	42249326	AG	A	G42249331C	ERF	NM_006494.4(ERF):c.785del:p.Pro262fs	coding	Pathogenic
19	42249378	AG	A	G42249382T	ERF	NM_006494.4(ERF):c.733del:p.Leu245fs	coding	Pathogenic
19	42249544	TAC	T	C42249546G	ERF	NM_006494.4(ERF):c.566_567del:p.Asp188_Cys189insTer	coding	Pathogenic
19	42249684	CG	C	G42249686A	ERF	NM_006494.4(ERF):c.427del:p.Arg143fs	coding	Pathogenic
19	42254966	CCCCGCCCCCACCTGTGTCCGCCGGGGTCTTCATGCTGGGGGGCCCGGGGCGAAGCGCCCCGATTCCGGGCCGCGGCT	C	C42254971G	ERF	NM_006494.4(ERF):c.-44_22+11del	noncoding	Pathogenic
19	42287219	CAG	C	A42287224T	CIC	NM_001304815.1(CIC):c.3159_3160AG[2]:p.Glu1054_Ser1055insTer	coding	Pathogenic
19	42290316	G	GC	G42290322C	CIC	NM_015125.5(CIC):c.1553dup:p.Asp519fs	coding	Pathogenic
19	42290567	G	GCAAGAGAC	C42290577A	CIC	NM_015125.4(CIC):c.1801_1808dup:p.Glu604fs	coding	Pathogenic
19	42290921	C	CT	G42290923T	CIC	NM_015125.4(CIC):c.2154dup:p.Gly719fs	coding	Pathogenic
19	42291337	GCACCCACCACCAGCAT	G	A42291339C	CIC	NM_015125.4(CIC):c.2571_2586del:p.Pro858fs	coding	Pathogenic
19	42291456	A	AC	A42291463C	CIC	NM_015125.4(CIC):c.2694dup:p.Lys899fs	coding	Pathogenic
19	42294295	G	GA	C42294297A	CIC	NM_015125.4(CIC):c.4319dup:p.Asp1440fs	coding	Pathogenic
19	43508051	A	AC	T43508053C	ETHE1	NM_014297.5(ETHE1):c.604dup:p.Val202fs	coding	Pathogenic
19	43508777	T	TG	T43508780G	ETHE1	NM_014297.5(ETHE1):c.592dup:p.His198fs	coding	Pathogenic/Likely_pathogenic
19	43511491	AGGCCATGCTGT	A	C43511494T	ETHE1	NM_014297.5(ETHE1):c.440_450del:p.His147fs	coding	Pathogenic
19	43526345	AT	A	T43526347C	ETHE1	NM_014297.5(ETHE1):c.230del:p.Asn77fs	coding	Pathogenic
19	43526518	C	CT	A43526519T	ETHE1	NM_014297.5(ETHE1):c.222_223insA:p.Ala75fs	coding	Pathogenic
19	43526519	A	AT	A43526521T	ETHE1	NM_014297.5(ETHE1):c.221dup:p.Tyr74Ter	coding	Pathogenic
19	43526608	ACT	A	C43526613G	ETHE1	NM_014297.5(ETHE1):c.127_128AG[2]:p.Glu44fs	coding	Pathogenic
19	43527111	TG	T	G43527116C	ETHE1	NM_014297.5(ETHE1):c.66del:p.Ile23fs	coding	Pathogenic
19	43527164	A	ACAGC	T43527170A	ETHE1	NM_014297.5(ETHE1):c.10_13dup:p.Val5fs	coding	Pathogenic
19	43527255	AGGGCG	A	C43527264G	ETHE1	NM_014297.4(ETHE1):c.-67-16_-67-12delCGCCC	noncoding	Pathogenic
19	43551692	T	TG	C43551699G	XRCC1	NM_006297.3(XRCC1):c.1083-11dup	noncoding	Benign
19	43769830	C	CT	G43769832T	KCNN4	NM_002250.3(KCNN4):c.820-2dup	noncoding	Benign
19	44274642	CG	C	G44274643T	ZNF233	NM_001330529.1(ZNF233):c.*1743del	coding	Benign
19	44908706	G	GCGGCGAGGTGCAGGCCATGCT	C44908732G	APOE	NM_000041.4(APOE):c.415_435dup:p.Glu139_Gly145dup	coding	Pathogenic
19	44908791	GCTC	G	T44908796G	APOE	NM_000041.4(APOE):c.497_499TCC[1]:p.Leu167del	coding	Pathogenic
19	44948839	CCG	C	G44948841T	APOC2	NM_000483.5(APOC2):c.196_197del:p.Ala66fs	coding	Pathogenic
19	44949437	G	GT	G44949438T	APOC2	NM_000483.5(APOC2):c.*188_*189insT	noncoding	Benign
19	45179630	CGGCT	C	T45179634G	BLOC1S3	NM_212550.5(BLOC1S3):c.338_341del:p.Leu113fs	coding	Pathogenic
19	45179672	GCCGCCGTGAGCGGTGTCTA	G	A45179681C	BLOC1S3	NM_212550.5(BLOC1S3):c.385_403del:p.Ser129fs	coding	Pathogenic
19	45179729	AGGCTGGCGGCAGCCCAGGCGGCGG	A	A45179740G	BLOC1S3	NM_212550.5(BLOC1S3):c.444_467del:p.Gln150_Ala157del	coding	Pathogenic
19	45179741	GC	G	C45179744A	BLOC1S3	NM_212550.4(BLOC1S3):c.448del:p.Gln150fs	coding	Pathogenic
19	45352546	CT	C	T45352547G	ERCC2	NM_000400.3(ERCC2):c.2005del:p.Arg669fs	coding	Pathogenic
19	45353295	TAA	T	A45353297G	ERCC2	NM_000400.3(ERCC2):c.1703_1704del:p.Phe568fs	coding	Pathogenic/Likely_pathogenic
19	45363958	T	TG	C45363965G	ERCC2	NM_000400.3(ERCC2):c.949+22dup	noncoding	Benign
19	45396384	CAGGTCAGACTCGTTCCAGGCTTTCGGAGG	C	A45396385C	PPP1R13L	NM_006663.4(PPP1R13L):c.736_764del:p.Pro246fs	coding	Pathogenic/Likely_pathogenic
19	45493253	TA	T	A45493254G	RTN2	NM_005619.5(RTN2):c.939del:p.Thr314fs	coding	Pathogenic
19	45494906	C	CG	T45494913G	RTN2	NM_005619.5(RTN2):c.178dup:p.Arg60fs	coding	Pathogenic
19	45494914	GC	G	C45494918A	RTN2	NM_005619.5(RTN2):c.170del:p.Gly57fs	coding	Pathogenic
19	45523883	TAG	T	A45523886T	VASP	NM_003370.4(VASP):c.910+9_910+10del	noncoding	Benign
19	45549362	TCAGGG	T	A45549379T	OPA3	NM_025136.4(OPA3):c.*4132_*4136CCCTG[3]	coding	Benign
19	45550397	G	GGCT	C45550404G	OPA3	NM_025136.4(OPA3):c.*3111_*3113AGC[3]	coding	Benign
19	45553714	CCTCCTCCTTGTGGCGCTG	C	C45553717G	OPA3	NM_025136.4(OPA3):c.322_339del:p.Gln108_Glu113del	coding	Pathogenic
19	45553912	CT	GG	C45553912G	OPA3	NM_025136.4(OPA3):c.143-2_143-1delinsCC	noncoding	Pathogenic
19	45768683	C	CGCCCCG	G45768699C	SIX5	NM_175875.5(SIX5):c.150_155CGGGGC[3]:p.51_52GA[4]	coding	Benign
19	45770204	CCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG	C	G45770210T	DMPK	NM_004409.5(DMPK):c.*224_*226CTG[1]	noncoding	Benign
19	45940559	CA	C	A45940560C	NOVA2	NM_002516.4(NOVA2):c.782del:p.Val261fs	coding	Pathogenic
19	45940560	AC	A	C45940561G	NOVA2	NM_002516.4(NOVA2):c.781del:p.Val261fs	coding	Pathogenic
19	45940593	GAGGCGGCGGCGGCCGACGCTGCGGCCGCGGCTGGCAGCAC	G	G45940595T	NOVA2	NM_002516.4(NOVA2):c.709_748del:p.Val237fs	coding	Pathogenic
19	45940621	C	CGGCTGGAAGCACATCCGCGG	C45940628A	NOVA2	NM_002516.4(NOVA2):c.720_721insCCGCGGATGTGCTTCCAGCC:p.Ala241fs	coding	Pathogenic
19	45940621	C	CGGCTGGCAGCACATCCGCGG	G45940649A	NOVA2	NM_002516.4(NOVA2):c.701_720dup:p.Ala241fs	coding	Pathogenic
19	45940630	G	GCA	T45940635C	NOVA2	NM_002516.4(NOVA2):c.708_709TG[3]:p.Leu238fs	coding	Pathogenic
19	46412198	T	TC	A46412204C	CCDC8	NM_032040.5(CCDC8):c.612dup:p.Lys205fs	coding	Pathogenic
19	46412726	T	TA	G46412728A	CCDC8	NM_032040.5(CCDC8):c.84dup:p.Lys29Ter	coding	Pathogenic
19	46746094	A	AGGCCG	T46746117C	FKRP	NM_024301.5(FKRP):c.-253+5GGCCG[5]	noncoding	Benign
19	46752477	TGCCTGGCATGTTGTAGGAGTTCAACAAATAGATGTTGAAGGATTGAAGGAAGGAAGAATCAATCTAAGGTCCAGAAGGCAATTCCAGGATTCTAAAGATTAGAAAGGACATGGTGACTCACGCCTGTAATCCTGGCACTTTGGGAGGCCGAGACGGAAGGATCACTTGAGGTCAGGAGTTCGAGACCAGCCTGGACAATATAGTGGGAGCCAGTCTCCACAAAAATGTGTTTGAAAAATTAGCCAGGCACAGTATTGCATGCCTGTAGTCCCAGCTACTCGGGAGACTGAGGCAGGAGGATGGCTTGAACACAGGAATTCGAGGCTGCAGTGAGCCGTGATTGCACCACTGCACTCAAGCTTGGGCAGCAGAGCAAGACGCTGTCCGTTTAAAAAATATATATATTTTGGCTGGGTGTGGTGGCTCACTCCTGTAATCCCAACATTTCTGGAGGCCAAGGCAGGCAGATCATGAGGTCAAGGGATTGAGACCATCCTGCCCAACATGGTGAAAACCCGTCTCTACTAAAAATACAAAAATTAGCCGGGCATGGTGGCACGCGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAAGAGAATCGCTTGAACCCTGGAGGCGGTGGTTGCAGTGAGCCAGTCGCACCACCGCACTCCAGCCTGGCAACAGAGTGAGACTCCGTCTCAAAAAAAAAAAAATTGTTTTTGGCTGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCACGGCGGGTGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGACCAACATCCCGTCTCTACTAAAAATACAAAATTAGCCGGGTGTGGTGGCGCATGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACGCGGGAGGCAGAGGTTGCAGTGAGATGAGATAGCTGCCACTGCACTCCAGCCTGGGCAACAGAGGGAGACTCCATCTCAAAAAAAAAAAAGAAAAGAAAAGAAATAAGAGCAGTTTGAGAAAATGTTCAGGGTGACTTAAACATACAGGTTGGGGAAAGCATGGCAAGAGATGAGGGTGGAATGGGGGGCAGACAAGGGGAATGTCAGAAGCAGCTTCCACTTTCTCCCCTGGGCACTGGGAGCCATGGCAAGTTCAGAGCAGGGGAAGGAGAGGTCCAACTTGTGCTTTAGGAAGACTCCTCTGGCTATCACGGGGAGAGGAATTGCCAGGAGACCAGGGGGAGGTTGGATGGGAATGTGGGTGGACCTGGTTGAGGAGGGAGCTGTGGAAATGGGGAGGAGGGGACAGAGGATTTAGGACATAGGGAGGTTAGTTGGATGCCCCCTCTCTCTAGGAAGGGCAGAAACCTACAAAAAGCCTTCATGGGGAAATTATTTGATCATCTGCTTGGAACCCAGAGCTATACCACCTGTGCTGGAGACCGGCCAGCCAAATCTTCAGTCTCGGTGGGGACAAGGAGACAGCGCCATCTGGTGCTTGAGGGTGTGGCCAATGAATGTGGAGGGGAGTGTCCTAAGGTTGGCAGCCTCTTTTGATGCAAGCTACCCCAGTTTTTTGTTGTTGTTGGGTATTTTGAGACAGGGTCTCACTCTTGTCCAGGCTGAGTGCAGTGGCATGATCATGGCTCACTGGCTCAAGCCATCCCCCCACCTCAGCATCCTGAGTGGCTGGGACCATAGGTGAGTAGCACCACACCCAGCTAATTTTTTATTTTTTGTAGAGATGAAGTCTCCTTATGTTACTCAGGTTGGTCTCGAACTCCTGGACTCAAGTGATCCTCCTGCCTTGGCCTCCCAAATTGCTGGGATCACAGGTGTGAGTCACTGTACCTGGCCCACCCCACTTTTGTTTTTTCTTTTTTTTTTTTAATTTTTATTTATTTATTTATTTATTTATTTATTTATTTTTTGAGACAGTCTCACTCTGTTGCCCAGGCTGGAGTGCAACGGTGCCATCTCGGCTCACTGTAACCTCCACCTCCCAGGTTCAAGTGATCCTCTTGCCTTGGCCTCCCAAATTGCTGAGATCACAGGCGTGAGTCACCATACCTGGCCCACCCCACTTTTGTTTTGTTTTTCTTGTTTTAAATTGGTTTGTTTATTTATTTATTTATTTATTTTTCGAGACGGAGTCTCGCTGTGTTGCCCAGGCTGGAGTGCAATGGTGCCATCTCCGCTCACTGCAACCTCCATCTCTCAGGTTCAAGCGATTTCCTGCCTCAGCCTCCTGAGTAGCTGGGCTTACAGGCACCCGCCCTCACACCCAGCTAACTTTTGTATTTTTAGTAGAGATGGGGTTTCACCGTGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAGGTAATCCACCTGCCTTGTCCTCTCAAAGTGATGGGATTACAGGCATAAGCCACCGCGCCCAGCCTAACCTTTTTTTTTCATTTATATTTTTCAGCACCCCACTTAAAATTTTTTTTAAATTCTGATTAAGTATATATAACATTAAATGTACCATCTTAACCATTTTTCAGCACACAGTTCAGTAGTGTTAAATGCATTCATACTGTTGTGCCAACAAACCTCTGGGACCTTTTCATCTTCCCAAACTGAAACTCTGTACTTATCAAACAACTCCCCATTCCCCCCTGCCTGCAACCCCTGGCACCCGTCATTCTACTTTATGTTTCTATTAGTTTGACTCACTCTGTTTAAAAAAAAAAAAAAAAATTCTGAGGACACCCAGAGTTGGTGCATGGCCCAGACTGGGAGGTCAGGGAGTGCTTCCTGGAGAAGGGGAAGTCAAAGCTGAAACCAAATAGGGAAAAGAAAGGGAATTGAGAAAGAGCTGTAGAAAGGGGCAAGGCTGAGGGTGGCAGAAGGGGGTGGTTCTGACAATCAGCTGCTGCCTTCCCTTTCGTCCCCCTCCCCCAGGATGCCCCGGAGGCCCAGCTAGCCCCAGACTTCGGCCCCATGCGGCTCACCCGCTGCCAGGCTGCCCTGGCGGCCGCCATCACCCTCAACCTTCTGGTCCTCTTCTATGTCTCGTGGCTGCAGCACCAGCCTAGGAATTCCCGGGCCCGGGGGCCCCGTCGTGCCTCTGCTGCCGGCCCCCGTGTCACCGTCCTGGTGCGGGAGTTCGAGGCATTTGACAACGCGGTGCCCGAGCTGGTAGACTCCTTCCTGCAGCAAGACCCAGCCCAGCCCGTGGTGGTGGCAGCCGACACGCTCCCCTACCCGCCCCTGGCCCTGCCCCGCATCCCCAACGTGCGTCTGGCGCTGCTCCAGCCCGCCCTGGACCGGCCAGCCGCAGCCTCGCGCCCGGAGACCTACGTGGCCACCGAGTTTGTGGCCCTAGTACCTGATGGGGCGCGGGCTGAGGCACCTGGCCTGCTGGAGCGCATGGTGGAGGCGCTCCGCGCAGGAAGCGCACGTCTGGTGGCCGCCCCGGTTGCCACGGCCAACCCTGCCAGGTGCCTGGCCCTGAACGTCAGCCTGCGAGAGTGGACCGCCCGCTATGGCGCAGCCCCCGCCGCG	T	G46752478C	FKRP	NM_024301.5(FKRP):c.-39-2934_564del	noncoding	Pathogenic
19	46755587	GC	G	C46755592G	FKRP	NM_024301.5(FKRP):c.142del:p.Arg48fs	coding	Pathogenic
19	46755605	T	TGGTGC	G46755613T	FKRP	NM_024301.5(FKRP):c.158_162dup:p.Glu55fs	coding	Pathogenic
19	46755610	C	CGGGA	T46755616G	FKRP	NM_024301.5(FKRP):c.162_165dup:p.Phe56fs	coding	Pathogenic
19	46755835	G	GTACC	G46755841A	FKRP	NM_024301.5(FKRP):c.387_390dup:p.Asp131delinsThrTer	coding	Pathogenic
19	46756124	AG	A	G46756125A	FKRP	NM_024301.5(FKRP):c.675del:p.Thr226fs	coding	Pathogenic
19	46756185	GC	G	C46756190G	FKRP	NM_024301.5(FKRP):c.740del:p.Pro247fs	coding	Pathogenic
19	46756392	GC	G	C46756398T	FKRP	NM_024301.5(FKRP):c.948del:p.Cys317fs	coding	Pathogenic
19	46756406	TGCGCGCGCTGC	T	C46756410A	FKRP	NM_024301.5(FKRP):c.960_970del:p.Ala321fs	coding	Pathogenic
19	46756525	T	TGG	A46756529G	FKRP	NM_024301.5(FKRP):c.1077_1078dup:p.Asp360fs	coding	Pathogenic
19	46756585	C	CG	C46756592G	FKRP	NM_024301.5(FKRP):c.1141dup:p.Ala381fs	coding	Pathogenic/Likely_pathogenic
19	46756585	CG	C	G46756591C	FKRP	NM_024301.5(FKRP):c.1141del:p.Ala381fs	coding	Pathogenic
19	46756616	AGC	A	C46756620G	FKRP	NM_024301.5(FKRP):c.1168_1169CG[1]:p.Gly391fs	coding	Pathogenic
19	46756686	CT	C	T46756688G	FKRP	NM_024301.5(FKRP):c.1238del:p.Leu413fs	coding	Pathogenic
19	46756704	GCC	G	C46756706T	FKRP	NM_024301.5(FKRP):c.1256_1257del:p.Pro419fs	coding	Pathogenic
19	46756712	AC	A	C46756717G	FKRP	NM_024301.5(FKRP):c.1267del:p.Arg423fs	coding	Pathogenic
19	46756719	C	CT	A46756720T	FKRP	NM_024301.5(FKRP):c.1269_1270insT:p.Asn424Ter	coding	Pathogenic
19	47071966	GGCATGTCTGCGT	G	T47071986A	ZC3H4	NM_015168.2(ZC3H4):c.1934_1945ACGCAGACATGC[1]:p.645_648HADM[1]	coding	Benign
19	47379900	TGGAGGA	T	G47379913T	DHX34	NM_014681.6(DHX34):c.2898_2900GGA[4]:p.Glu970_Glu971del	coding	Benign
19	47379900	T	TGGA	T47379919G	DHX34	NM_014681.6(DHX34):c.2898_2900GGA[7]:p.Glu971dup	coding	Benign
19	47479918	G	GACCGACCACATCTGCAGA	T47479940G	KPTN	NM_007059.4(KPTN):c.714_731dup:p.Met241_Gln246dup	coding	Pathogenic
19	47480314	CA	C	A47480315C	KPTN	NM_007059.4(KPTN):c.692del:p.Val231fs	coding	Pathogenic
19	47480341	C	CT	G47480343T	KPTN	NM_007059.4(KPTN):c.665dup:p.Ser223fs	coding	Pathogenic
19	47480760	C	CTA	C47480763T	KPTN	NM_007059.4(KPTN):c.597_598dup:p.Ser200fs	coding	Pathogenic/Likely_pathogenic
19	47695362	CAGG	C	A47695363C	BICRA	NM_015711.3(BICRA):c.3077-2_3077del	noncoding	Benign
19	47836293	CTG	C	T47836294G	CRX	NM_000554.6(CRX):c.152_153del:p.Leu51fs	coding	Pathogenic
19	47836330	AC	A	C47836333A	CRX	NM_000554.6(CRX):c.191del:p.Pro64fs	coding	Pathogenic
19	47839327	TCAAGAACCGGAGGG	T	A47839329T	CRX	NM_000554.6(CRX):c.262_275del:p.Phe87_Lys88insTer	coding	Pathogenic
19	47839468	AC	A	C47839471T	CRX	NM_000554.6(CRX):c.404del:p.Pro135fs	coding	Pathogenic/Likely_pathogenic
19	47839508	CG	C	G47839510C	CRX	NM_000554.6(CRX):c.443del:p.Gly148fs	coding	Pathogenic
19	47839510	G	GC	T47839515C	CRX	NM_000554.6(CRX):c.447dup:p.Ser150fs	coding	Pathogenic
19	47839514	CT	C	T47839515C	CRX	NM_000554.6(CRX):c.448del:p.Ser150fs	coding	Pathogenic
19	47839516	CA	C	A47839517G	CRX	NM_000554.6(CRX):c.450del:p.Gly151fs	coding	Pathogenic
19	47839521	TC	T	C47839525A	CRX	NM_000554.6(CRX):c.458del:p.Pro153fs	coding	Pathogenic
19	47839566	TCA	T	C47839567G	CRX	NM_000554.6(CRX):c.500_501del:p.Ala166_Ser167insTer	coding	Pathogenic
19	47839567	C	CA	G47839569A	CRX	NM_000554.6(CRX):c.501dup:p.Glu168fs	coding	Pathogenic
19	47839568	AG	A	G47839569A	CRX	NM_000554.6(CRX):c.502del:p.Glu168fs	coding	Pathogenic
19	47839576	CT	C	T47839579G	CRX	NM_000554.6(CRX):c.512del:p.Leu171fs	coding	Pathogenic
19	47839585	AG	A	G47839587C	CRX	NM_000554.6(CRX):c.520del:p.Ala174fs	coding	Pathogenic
19	47839593	CG	C	G47839596C	CRX	NM_000554.6(CRX):c.529del:p.Ala177fs	coding	Pathogenic
19	47839613	AG	A	G47839616C	CRX	NM_000554.6(CRX):c.549del:p.Pro184fs	coding	Pathogenic
19	47839632	GC	G	C47839637T	CRX	NM_000554.6(CRX):c.570del:p.Tyr191fs	coding	Pathogenic
19	47839677	TC	T	C47839682T	CRX	NM_000554.6(CRX):c.615del:p.Ser206fs	coding	Pathogenic
19	47839723	AC	A	C47839727T	CRX	NM_000554.6(CRX):c.660del:p.Tyr221fs	coding	Pathogenic
19	47839727	CTACCTTTCTCCCATGGTGCCCCAGCTAGGGGGCCCGGCTCTTAGCCCCCTCTCTGGCCCCTCCGTGGGACCTTCCCTGGCCCAGTCCCCCACCTCCCTATCAGGCCAGAGCTATGGCGCCTACAGCCCCGTGGATAGCTTGGAATTCAAGGACCCCACGGGCACCTGGAAATTCACCTACAATCCCATGGACCCTCTGGACTACAAGGATCAGAGTGCCTGGAAGTTTCAGATCTTGTAGAGGACGCAGTCTCCATCTCTCTCCATCGGGCCTCGGGACCCTTTCTCTTCTGAATCTGCTTCCCTGCAGTTTAGATCCCGGGATGGCATTCCTGAGAAAGCAACCCGAACCAGCTGTCCTTCTGACAGCTCGGTGTTCAGCTTACAGAGACCACCCCTTTCCTCCACAGGGAGAGGCTCCTCCCTCTCCTGGGACAGCTCACAGGTCCTAGTGATTCTCTCAACCCTAACACCGTCTGGCACGATTGTGACCGCTGAAGTACACCACGAGCTCCAGGCTTCAGAAAGTGGTGCTGAGAACTTGCTCCAAGAAGAAGTCAAACCAAACTTGCAGTTGATTTGGGGTCATGTTTAGGTCAGAATCACCGTGCCCTTGAACAAGCAGGTAGGGGGGCTTGATAACTTAACTTTCCACGTGGACAGAATTTTTTTTTTTGTTTTGTTTTTGTTTTGCAGACACAGTCTAGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCACGATCTCAGCTCACTGCAAGCTCTACCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGATGCCCACCACCAGGCCCGGCTAATTTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTAGGATTACAGGCGTGAGCCACCGCGCCCGGCCCTTTTTTTTTTTTTTTTTTTTAATTGAGACGGAGTCTCACTCTTTTGCTTAGGCTGGAGTGCAGTGGTGTGATCTCAGCTCACTGACTGCAACCTCCACCTCCCGGGTTGAAGCGTTGCTCCTGCCTCAATCTCCCAATTAGCTGGGATTACAGGTGTGCTCCATCATGCCCGGCTAATTTTTCTATTATTAGTAGAGACAGGGTTTTACCATGTTGGCCAGGCTGGTCTGGAACCCCTGACCTCAAGTGATCCGCCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCATTGTGCCTGGCCCTACACGTGGACACTTCTTTAGCATATGGTTAGGGACCTTTCTAGAAATTCCAAAGACAGACTTTAAGAAGCCCCGTCGGGAAACCTTAGGCCAATGATGTGGTTACATTAAAAATAAATTATCTGGGAATTTCACAGACTTCACAAATGTCAGGCTTACATGGTAGGTTTAGGGGACCGTTTGAGAGACAAAGATCTACATTCATATATGTAGCTATACATATATGTACTTTTTCTTCTTAGTTTCTTTTTAAAGACATTTTATCACTCATTCGCTCATTAGCACATTGGGAATGTGTGTATTTGGTAGGGAAATGAAAGGCACCTTGCCTGTTCCATCTCTACTCCTTTTTTCTTTTGTTTTAGGATTTTCTAAAGGTGAGACACTGGTGGAACTGGGGTAGCTGCTTGGGACGTACCACCTATAGTTGTGGCTATTTCACAGAGAAGCAGCAGCTAGACAGACTCCCATCTGTAAATAAACAAGAGATAGGAAGAGGGGGAAATAGATTTGGAGGAGGCAGCCCTACATTTCAAACATACATTCCCTTTTTTAGATTTTTTTTTTTTTTTTTTTGGTTTTCAGTTTTGATGGTGGGATTGGAAAATAGAGCTTGGCTTGAGGACATTTTCCTGGGGTGGCACCATTATTTCTTGAAATAGAATCTTACTTATGGTGACACTGGCAAGCACTTGTGAGAACCTGAAGACGGATTGAGGTCATTTGATGCTCAGAAGTTGGGTGCTGGGTCCCTGCCTTCTCAGTCCGAGTTCTCCTTTCATTTTTGGGTGGGGAGGCGGGTTCCAAGAGCCCTTCATTGGTGGAGTTCACAAGGCAAGGTGTAAAAAAAAAAGTAGGGCAGGAAGACAGTGGTGTGCTGGCAGAGGTCTAACAATGGGCTCTCCAAGGAAGAGGAAAAGGTTGGTTGTGGAGTGTTTGTCAGTTTCCGTGGTGTAAATACTCCCACCACGGCTGACTTCAAGCTAGCAACCGGAGGTCACTGAACTAAGAGTTGGGAAGAGATAGGGCACAATATATGCTTACGAGTTGGTACACACCGTCAGCAGCAGCCAGGGTCAGGAGAAAGGCGAGATGTGAAGAGAGGCCGGGAGGTATCAGATGACGTTTCCAGCACTAGACCAGAAGAGGTGCACACAGCCTAGACCCCCTGAGGGGTACACCCTGATCTCTAGAGCCCACAAAGAGGTTTTTATTCAACATAAAACGTGTTCATCTCTCATAGGCCTGAGTCATGCTGGGTTCTGGGACATTAAGCCCAGGAGTGGGCCGGGTGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCTGTCTCTACTAATAATACAAAAATTAGCCGGGCATGGTGGCACGCGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATTGCTGGAACCCGGGAGGCGGAGGTTGAAGAGAGCAGAGATTGTGCCACTGTGCTCTAGCCTGGGTCACAAGAGCGAAACTCCGTCTCAATAATAACAACAACAAAAATAACCCAGGAGTGGCTCAAGAGTCCAGTGTGGGATGAAAATATAAACAGAGGAAGACAACATATGTCACTGGGGAGGCTGGGGGAGCTAGACAAAATTCACACGGGAGGGGCAGGGATGAGACAATATTGTGCCCTGGGTCTGTGCAAACGTTGGGACCAGAATCCACTATAAGTTTCATTCTTCGGAGACACGGAAGCTCTGCACTGGAGGCCGGGACTCAGGCGTGGAAGAGAATCTTCTCCTTATTCACCGGGGAGGCTGTGTCTTGTGCAAACAAGTCATAGAAACTTGATGGGAGTTGGGGAGGGACTGAAGGATGCATGCAAGGTTCTGGGAAGGAGTGAGAAGTAGTGAAGGCCAAGGGGCCCCCATCACAGGCCGATGGGGTAAGACTTCGAGAG	C	T47839728A	CRX	NM_000554.6(CRX):c.661_*3038del:p.Tyr221fs	coding	Pathogenic
19	47839727	CT	C	T47839728A	CRX	NM_000554.6(CRX):c.661del:p.Tyr221fs	coding	Pathogenic
19	47839759	GC	G	C47839762G	CRX	NM_000554.6(CRX):c.695del:p.Pro232fs	coding	Pathogenic/Likely_pathogenic
19	47839879	AC	A	C47839883A	CRX	NM_000554.6(CRX):c.816del:p.Thr273fs	coding	Pathogenic
19	47840274	CAAG	C	A47840281T	CRX	NM_000554.6(CRX):c.*308_*310AAG[2]	noncoding	Benign
19	47841857	TA	T	A47841867G	CRX	NM_000554.6(CRX):c.*1900del	noncoding	Benign
19	48297653	A	AC	G48297657C	ODAD1	NM_001364171.2(ODAD1):c.1517dup:p.Phe507_Glu508insTer	coding	Pathogenic
19	48297656	C	CG	T48297663G	ODAD1	NM_001364171.2(ODAD1):c.1514dup:p.Phe507_Glu508insTer	coding	Pathogenic
19	48303033	CA	C	A48303034T	ODAD1	NM_001364171.2(ODAD1):c.1050del:p.His350fs	coding	Pathogenic
19	48312078	CT	C	T48312080A	ODAD1	NM_001364171.2(ODAD1):c.398del:p.Lys133fs	coding	Pathogenic
19	48587377	C	CA	T48587379A	SULT2B1	NM_177973.2(SULT2B1):c.364dup:p.Met122fs	coding	Pathogenic
19	48703766	AC	A	C48703768T	FUT2	NM_000511.6(FUT2):c.812del:p.Pro271fs	coding	Benign
19	48955713	TGGGGGGG	T	G48955715A	BAX	NM_138761.4(BAX):c.115_121del:p.Gly39fs	coding	Pathogenic
19	48955713	TG	T	G48955721A	BAX	NM_138761.4(BAX):c.121del:p.Glu41fs	coding	Pathogenic
19	48965317	GCGGTCCCGCGGGTCTGTCTCTTGCTTCAA	G	G48965319A	FTL	NM_000146.4(FTL):c.-189_-161del	noncoding	Pathogenic
19	48965329	GTCTGTC	G	G48965333T	FTL	NM_000146.4(FTL):c.-175_-170del	noncoding	Pathogenic
19	48966664	C	CA	C48966666A	FTL	NM_000146.4(FTL):c.458dup:p.His153fs	coding	Pathogenic
19	48966675	T	TGGCCCGGAGGCTGGGC	T48966692G	FTL	NM_000146.4(FTL):c.469_484dup:p.Leu162fs	coding	Pathogenic
19	48966701	A	ATC	T48966707C	FTL	NM_000146.4(FTL):c.496_497CT[3]:p.Phe167fs	coding	Pathogenic
19	48978122	CT	C	T48978123C	GYS1	NM_002103.5(GYS1):c.1204del:p.Arg402fs	coding	Pathogenic
19	49016633	TGATGGGGTG	T	A49016635C	LHB	NM_000894.2(LHB):c.88_96del:p.His30_Ile32del	coding	Pathogenic
19	49016690	TCAGCAGCAGCAA	T	A49016701C	LHB	NM_000894.2(LHB):c.28_39del:p.Leu10_Leu13del	coding	Pathogenic
19	49196501	TGCTGCGGGGGCC	T	C49196512G	TRPM4	NM_017636.4(TRPM4):c.2283_2294del:p.759_762CGGR[1]	coding	Benign/Likely_benign
19	49595234	C	CCCCACCA	C49595245A	PRR12	NM_020719.3(PRR12):c.903_909dup:p.Pro304fs	coding	Pathogenic
19	49597575	GC	G	C49597576T	PRR12	NM_020719.3(PRR12):c.3241del:p.Leu1081fs	coding	Pathogenic
19	49601542	C	CCCCTCA	T49601543C	PRR12	NM_020719.3(PRR12):c.4397_4398insCCCTCA:p.Gln1468_Pro1469insHisPro	coding	Benign
19	49601645	GCTGC	G	T49601647G	PRR12	NM_020719.3(PRR12):c.4502_4505del:p.Leu1501fs	coding	Pathogenic
19	49807225	ACAG	A	A49807239C	FUZ	NM_025129.5(FUZ):c.1168_1170CTG[4]:p.Leu394del	coding	Benign
19	49830902	G	GCCTCCTGCCCCTGCTCCTT	T49830930C	MED25	NM_030973.4(MED25):c.1101+24_1101+42dup	noncoding	Benign
19	49835896	AC	A	C49835899T	MED25	NM_030973.3(MED25):c.1919del:p.Pro640fs	coding	Pathogenic
19	49861264	T	TGCAGTACA	G49861266C	PNKP	NM_007254.4(PNKP):c.1549_1550insTGTACTGC:p.Gln517fs	coding	Pathogenic
19	49861265	G	GGCAGTACA	C49861276A	PNKP	NM_007254.4(PNKP):c.1541_1548dup:p.Gln517fs	coding	Pathogenic
19	49861473	GAC	G	A49861476G	PNKP	NM_007254.4(PNKP):c.1422_1423del:p.Ser475fs	coding	Pathogenic
19	49861542	AGGGGTCAGGGGAGGAGG	A	A49861554G	PNKP	NM_007254.4(PNKP):c.1386+49_1387-33del	noncoding	Pathogenic
19	49861671	C	CCGGCT	G49861672C	PNKP	NM_007254.4(PNKP):c.1322_1323insAGCCG:p.Gly442fs	coding	Pathogenic
19	49861672	G	GCGGCT	G49861681C	PNKP	NM_007254.4(PNKP):c.1317_1321dup:p.Ala441fs	coding	Pathogenic
19	49861765	ACGCTACCTGG	A	T49861769G	PNKP	NM_007254.4(PNKP):c.1295_1298+6del	noncoding	Pathogenic/Likely_pathogenic
19	49861769	T	TACCTGGCG	C49861778A	PNKP	NM_007254.4(PNKP):c.1293_1298+2dup	noncoding	Pathogenic
19	49861775	G	GCGCGGCT	G49861789T	PNKP	NM_007254.4(PNKP):c.1288_1294dup:p.Ala432fs	coding	Pathogenic
19	49861778	CGGCTCGCGGCGTCTGGGTTTGTGTTGTCGATGGCGACCCGTTTCCCTTGCTTCAGGGCTGTCTCACACGTGGTCACACAGCGCTGCCAG	C	G49861780A	PNKP	NM_007254.4(PNKP):c.1203_1291del:p.Trp402fs	coding	Pathogenic
19	49861800	T	TGTTGTCGATGGCGACCC	T49861821G	PNKP	NM_007254.4(PNKP):c.1253_1269dup:p.Thr424fs	coding	Pathogenic
19	49861808	A	AGTTGTCGATGGCGACCC	T49861809G	PNKP	NM_007254.4(PNKP):c.1261_1262insGGGTCGCCATCGACAAC:p.Ile421fs	coding	Pathogenic
19	49861811	G	GCGAC	C49861817G	PNKP	NM_007254.4(PNKP):c.1255_1258dup:p.Ala420fs	coding	Pathogenic
19	49861846	CGTG	C	G49861849C	PNKP	NM_007254.4(PNKP):c.1221_1223del:p.Thr408del	coding	Pathogenic/Likely_pathogenic
19	49861890	AC	A	C49861891G	PNKP	NM_007254.4(PNKP):c.1189-10del	noncoding	Benign/Likely_benign
19	49862229	AGGAGGGCCCTGGACTCG	A	A49862232G	PNKP	NM_007254.4(PNKP):c.1065_1081del:p.Ser357fs	coding	Pathogenic
19	49862245	C	CGGGGAGGCAGAGAGGCCCTGAG	C49862268G	PNKP	NM_007254.4(PNKP):c.1044_1065dup:p.Glu356fs	coding	Pathogenic
19	49862556	GAA	G	A49862557G	PNKP	NM_007254.4(PNKP):c.916_917del:p.Phe306fs	coding	Pathogenic
19	49864211	T	TA	C49864213A	PNKP	NM_007254.4(PNKP):c.603dup:p.Lys202Ter	coding	Pathogenic/Likely_pathogenic
19	49865261	T	TG	C49865263G	PNKP	NM_007254.4(PNKP):c.363dup:p.Thr122fs	coding	Pathogenic
19	49867061	TC	T	C49867062T	PNKP	NM_007254.4(PNKP):c.143del:p.Arg48fs	coding	Pathogenic
19	49867141	TG	T	G49867147C	PNKP	NM_007254.4(PNKP):c.63del:p.Ile22fs	coding	Pathogenic
19	49867157	AG	A	G49867163C	PNKP	NM_007254.4(PNKP):c.47del:p.Pro16fs	coding	Pathogenic
19	49908948	G	GTGC	G49908963C	NUP62	NM_016553.5(NUP62):c.848_850GCA[5]:p.Ser286dup	coding	Benign
19	50329070	CTG	C	T50329071A	KCNC3	NM_004977.2(KCNC3):c.11_12del:p.Ser4fs	coding	Pathogenic
19	50401932	GC	TT	G50401932T	POLD1	NM_002691.4(POLD1):c.463+8_463+9delinsTT	noncoding	Benign/Likely_benign
19	50407027	GAAGGATGCC	AAAGGATGCT	G50407027A	POLD1	NM_002691.4(POLD1):c.1539_1548delinsAAAGGATGCT:p.Leu513_Ala516=	coding	Benign
19	50408690	AT	A	T50408702A	POLD1	NM_002691.4(POLD1):c.1776-83del	noncoding	Benign
19	50408817	TCTC	T	C50408821G	POLD1	NM_002691.4(POLD1):c.1809_1811CTC[1]:p.Ser605del	coding	Pathogenic
19	50409679	G	GA	C50409680A	POLD1	NM_002691.4(POLD1):c.2154+13_2154+14insA	noncoding	Benign
19	50417278	CA	TG	C50417278T	POLD1	NM_002691.4(POLD1):c.3218+9_3218+10inv	noncoding	Benign/Likely_benign
19	50417812	T	TCCTGAC	C50417823A	POLD1	NM_002691.4(POLD1):c.3219-25_3219-20dup	noncoding	Benign
19	50417817	A	ACCCTGC	C50417833T	POLD1	NM_002691.4(POLD1):c.3219-24CCCTGC[3]	noncoding	Benign
19	50417817	A	ACCCTGCCCCTGC	C50417833T	POLD1	NM_001256849.1(POLD1):c.3219-24CCCTGC[4]	noncoding	Benign/Likely_benign
19	50907066	CA	C	A50907067G	KLK4	NM_004917.4(KLK4):c.632del:p.Leu211fs	coding	Pathogenic
19	50908808	GC	G	C50908811A	KLK4	NM_004917.4(KLK4):c.245del:p.Gly82fs	coding	Pathogenic
19	51354360	T	TG	C51354366G	ETFB	NM_001985.3(ETFB):c.58-57dup	coding	Benign
19	51354620	C	CCCACAG	T51354627C	ETFB	NM_001985.3(ETFB):c.58-318_58-313dup	coding	Benign
19	51745957	CT	TG	C51745957T	FPR1	NM_002029.3(FPR1):c.1037_1038delinsCA:p.Glu346Ala	coding	Benign
19	53803938	CAGGAAGAACTCACCACAAAGTCCGT	C	G53803941T	NLRP12	NM_144687.3(NLRP12):c.2574_2585+13del	noncoding	Pathogenic
19	53810542	ATTCC	A	C53810549T	NLRP12	NM_001277126.1(NLRP12):c.1109_1112GGAA[1]:p.Lys371fs	coding	Pathogenic
19	53889647	AACAAAC	A	A53889652G	PRKCG	NM_002739.5(PRKCG):c.300_305del:p.His101_Lys102del	coding	Pathogenic
19	53889937	GC	TT	G53889937T	PRKCG	NM_002739.5(PRKCG):c.449_450delinsTT:p.Cys150Phe	coding	Pathogenic
19	53906891	TGTAATCTCACCCGCCGCCACTAGGTGTCCCCAACGTCCCCTCCGCCGTGCCGGCGGCAGCCCCACTTCACCCCCAACTTCACCACCCCCTGTCCCATTCTAG	T	G53906892A	PRKCG	NM_002739.5(PRKCG):c.2091_*98del:p.Met697_Ter698delinsXaa	coding	Pathogenic
19	54118358	AAGAG	A	A54118359G	PRPF31	NM_015629.4(PRPF31):c.81_84del:p.Glu28fs	coding	Pathogenic
19	54118363	GAGCC	G	C54118367G	PRPF31	NM_015629.4(PRPF31):c.89_92del:p.Pro30fs	coding	Pathogenic
19	54118370	CGATCGAG	C	C54118374G	PRPF31	NM_015629.4(PRPF31):c.96_102del:p.Ile32fs	coding	Pathogenic
19	54118454	T	TTA	G54118455T	PRPF31	NM_015629.4(PRPF31):c.176_177insTA:p.Met59fs	coding	Pathogenic
19	54121865	GGA	G	G54121866C	PRPF31	NM_015629.4(PRPF31):c.245_246del:p.Gly82fs	coding	Pathogenic
19	54121899	T	TC	G54121901C	PRPF31	NM_015629.4(PRPF31):c.279dup:p.Val94fs	coding	Pathogenic/Likely_pathogenic
19	54121940	CTGAG	C	A54121947C	PRPF31	NM_015629.4(PRPF31):c.322+4_322+7del	coding	Pathogenic
19	54122499	ATCATCCATAAGT	A	A54122506G	PRPF31	NM_015629.4(PRPF31):c.332_343del:p.His111_Ile114del	coding	Pathogenic
19	54122500	TCATC	T	C54122504A	PRPF31	NM_015629.4(PRPF31):c.330_333del:p.His111fs	coding	Pathogenic
19	54122507	TA	T	A54122509G	PRPF31	NM_015629.4(PRPF31):c.335del:p.Lys112fs	coding	Pathogenic
19	54122541	CCTGAA	C	A54122545G	PRPF31	NM_015629.4(PRPF31):c.371_375del:p.Glu124fs	coding	Pathogenic
19	54123800	GGC	G	G54123803T	PRPF31	NM_015629.4(PRPF31):c.580_581GC[1]:p.Leu195fs	coding	Pathogenic/Likely_pathogenic
19	54123856	TG	T	G54123857T	PRPF31	NM_015629.4(PRPF31):c.636del:p.Met212fs	coding	Pathogenic
19	54123908	CA	C	A54123910G	PRPF31	NM_015629.4(PRPF31):c.689del:p.Lys230fs	coding	Pathogenic
19	54124556	TCGGGGCCCAG	T	G54124559C	PRPF31	NM_015629.4(PRPF31):c.758_767del:p.Gly253fs	coding	Pathogenic
19	54124569	C	CA	G54124572A	PRPF31	NM_015629.4(PRPF31):c.770dup:p.Thr258fs	coding	Pathogenic
19	54128074	TG	T	G54128077C	PRPF31	NM_015629.4(PRPF31):c.950del:p.Gly317fs	coding	Pathogenic
19	54128077	GCTACGAA	G	A54128080G	PRPF31	NM_015629.4(PRPF31):c.953_959del:p.Gly317_Tyr318insTer	coding	Pathogenic
19	54128080	A	ACG	A54128083C	PRPF31	NM_015629.4(PRPF31):c.954_955dup:p.Glu319fs	coding	Pathogenic
19	54128122	AG	A	G54128124A	PRPF31	NM_015629.4(PRPF31):c.997del:p.Glu333fs	coding	Pathogenic
19	54128192	CGGCCGCAGGTGAGGG	C	G54128194C	PRPF31	NM_015629.4(PRPF31):c.1067_1073+8del	coding	Pathogenic
19	54128314	GA	G	A54128315T	PRPF31	NM_015629.4(PRPF31):c.1084del:p.Lys361_Met362insTer	coding	Pathogenic
19	54128336	A	ACGGAGATC	A54128349G	PRPF31	NM_015629.4(PRPF31):c.1110_1117dup:p.Lys373fs	coding	Pathogenic
19	54128343	TCCGGAAGCAGG	T	G54128346A	PRPF31	NM_015629.4(PRPF31):c.1115_1125del:p.Arg372fs	coding	Pathogenic
19	54128347	GAAGCAGGCCA	G	A54128349C	PRPF31	NM_015629.4(PRPF31):c.1118_1127del:p.Lys373fs	coding	Pathogenic
19	54145930	T	TC	A54145939C	CNOT3	NM_014516.4(CNOT3):c.732dup:p.Ser245fs	coding	Pathogenic
19	54148281	T	TC	G54148286C	CNOT3	NM_014516.4(CNOT3):c.1032dup:p.Ala345fs	coding	Pathogenic
19	54149592	C	CT	G54149594T	CNOT3	NM_014516.4(CNOT3):c.1440dup:p.Gly481fs	coding	Pathogenic
19	54149625	CAG	C	A54149626G	CNOT3	NM_014516.4(CNOT3):c.1473_1474del:p.Gly493fs	coding	Pathogenic
19	54152887	CCT	C	C54152888G	CNOT3	NM_014516.4(CNOT3):c.1926_1927del:p.Cys643fs	coding	Pathogenic
19	54152938	CTG	C	T54152941G	CNOT3	NM_014516.4(CNOT3):c.1977_1978TG[1]:p.Val660fs	coding	Pathogenic
19	54180800	GGGCCGCC	G	G54180801T	MBOAT7	NM_024298.5(MBOAT7):c.820_826del:p.Gly274fs	coding	Pathogenic
19	54180848	CCGGCGGCAATGCAGCCGCACT	C	G54180859C	MBOAT7	NM_024298.5(MBOAT7):c.758_778del:p.Glu253_Ala259del	coding	Pathogenic
19	54180857	ATGCAGCCGCACTC	A	T54180858G	MBOAT7	NM_024298.5(MBOAT7):c.757_769del:p.Glu253fs	coding	Pathogenic
19	54183590	GC	G	C54183594A	MBOAT7	NM_024298.5(MBOAT7):c.423del:p.Leu142fs	coding	Pathogenic
19	54938142	GA	G	A54938143G	NLRP7	NM_001127255.1(NLRP7):c.2030del:p.Leu677fs	coding	Pathogenic
19	54938960	AGT	A	G54938961T	NLRP7	NM_001127255.1(NLRP7):c.1857_1858del:p.Lys619fs	coding	Pathogenic
19	54940945	T	TC	G54940948C	NLRP7	NM_001127255.1(NLRP7):c.337dup:p.Glu113fs	coding	Pathogenic
19	55133961	GGTGGGGAC	G	T55133971G	TNNT1	NM_003283.6(TNNT1):c.751-42_751-35del	noncoding	Benign
19	55134120	C	CT	G55134122T	TNNT1	NM_003283.6(TNNT1):c.695dup:p.Leu233fs	coding	Pathogenic
19	55138009	CT	C	T55138014C	TNNT1	NM_003283.6(TNNT1):c.452del:p.Lys151fs	coding	Pathogenic
19	55140916	AG	A	G55140917T	TNNT1	NM_003283.6(TNNT1):c.353del:p.Thr118fs	coding	Pathogenic
19	55145551	T	TG	C55145556G	TNNT1	NM_003283.6(TNNT1):c.120dup:p.Lys41fs	coding	Pathogenic
19	55154044	CCTT	C	T55154049A	TNNI3	NM_000363.5(TNNI3):c.529_531AAG[1]:p.Lys178del	coding	Pathogenic
19	55157354	C	CCTGT	C55157361G	TNNI3	NM_000363.5(TNNI3):c.12-50_12-47dup	noncoding	Benign
19	55159416	C	CT	G55159418T	DNAAF3	NM_001256715.2(DNAAF3):c.1271dup:p.Phe426fs	coding	Pathogenic
19	55159951	GGA	G	A55159955T	DNAAF3	NM_001256715.2(DNAAF3):c.1107_1108TC[1]:p.Leu370fs	coding	Pathogenic
19	55160690	T	TC	G55160698C	DNAAF3	NM_001256715.2(DNAAF3):c.997dup:p.Asp333fs	coding	Pathogenic
19	55160718	AG	A	G55160720C	DNAAF3	NM_001256715.2(DNAAF3):c.969del:p.Trp324fs	coding	Pathogenic
19	55161684	C	CA	C55161686A	DNAAF3	NM_001256715.2(DNAAF3):c.621dup:p.Val208fs	coding	Pathogenic
19	55161694	G	GGCGTC	T55161701C	DNAAF3	NM_001256715.2(DNAAF3):c.607_611dup:p.Arg205fs	coding	Pathogenic
19	55162239	GGCGGGCGCAGC	G	G55162240A	DNAAF3	NM_001256715.2(DNAAF3):c.363_373del:p.Leu122fs	coding	Pathogenic
19	55165920	CCA	C	C55165923G	DNAAF3	NM_001256715.2(DNAAF3):c.162_163TG[1]:p.Val55fs	coding	Pathogenic
19	55165930	C	CA	G55165932A	DNAAF3	NM_001256715.2(DNAAF3):c.155dup:p.Ser54fs	coding	Pathogenic
19	55279518	A	AGCCGCCGCC	C55279534G	HSPBP1	NM_012267.5(HSPBP1):c.76_78GGC[8]:p.Gly28_Gly30dup	coding	Benign
19	57232069	TC	T	C57232073T	AURKC	NM_001015878.2(AURKC):c.145del:p.Leu49fs	coding	Pathogenic
19	57456271	TAA	T	A57456272G	VN1R1	NM_020633.3(VN1R1):c.214_215del:p.Leu72fs	coding	Benign
19	58262674	T	TGTAG	T58262679G	ZNF544	NM_001320782.1(ZNF544):c.245-14508_245-14505dup	coding	Benign
20	145514	GCAAA	G	C145519G	DEFB126	NM_030931.4(DEFB126):c.159_162CAAA[1]:p.Gln55fs	coding	Benign
20	145669	ACC	A	C145673G	DEFB126	NM_030931.4(DEFB126):c.317_318del:p.Pro106fs	coding	Benign
20	409978	CCT	C	C409979G	RBCK1	NM_031229.4(RBCK1):c.121_122del:p.Leu41fs	coding	Pathogenic
20	419671	C	CGACGAGG	A419679G	RBCK1	NM_031229.4(RBCK1):c.697_703dup:p.Glu235fs	coding	Pathogenic
20	419694	T	TGGCG	A419703G	RBCK1	NM_031229.4(RBCK1):c.720_723GGCG[3]:p.Glu243fs	coding	Pathogenic
20	421006	CGTGA	C	A421010T	RBCK1	NM_031229.4(RBCK1):c.896_899del:p.Glu299fs	coding	Pathogenic
20	442027	CTG	C	G442029T	TBC1D20	NM_144628.4(TBC1D20):c.352_353del:p.Gln118fs	coding	Pathogenic
20	495725	GT	G	T495726G	CSNK2A1	NM_177559.3(CSNK2A1):c.503del:p.His168fs	coding	Pathogenic
20	508455	AT	A	T508457C	CSNK2A1	NM_177559.3(CSNK2A1):c.96del:p.Glu32fs	coding	Pathogenic
20	761009	CG	C	G761013T	SLC52A3	NM_033409.4(SLC52A3):c.*16del	noncoding	Benign
20	763817	CG	C	G763819A	SLC52A3	NM_033409.4(SLC52A3):c.753del:p.Val252fs	coding	Pathogenic/Likely_pathogenic
20	764018	A	ACAGGTCAAT	A764022G	SLC52A3	NM_033409.4(SLC52A3):c.568-16_568-15insCTGATTGAC	noncoding	Benign
20	765779	GTATCTGCCC	G	A765781G	SLC52A3	NM_033409.4(SLC52A3):c.-14_-6del	noncoding	Benign
20	968119	G	GC	A968126C	RSPO4	NM_001029871.4(RSPO4):c.98dup:p.Asn34fs	coding	Pathogenic
20	2430484	AAAG	A	A2430489C	TGM6	NM_198994.3(TGM6):c.1719_1721AGA[1]:p.Glu574del	coding	Pathogenic
20	2431011	G	GAAC	G2431016A	TGM6	NM_198994.3(TGM6):c.1953_1955dup:p.Gln652dup	coding	Benign/Likely_benign
20	2431085	CAG	C	G2431091A	TGM6	NM_198994.3(TGM6):c.1967+59AG[2]	noncoding	Benign
20	2432479	CC	TT	C2432479T	TGM6	NM_198994.3(TGM6):c.1968-11_1968-10delinsTT	noncoding	Benign
20	2652732	A	AGGGCCTGGGCCTGGGCCTGGGCCTGGGCCTGGGCCTGGGCCTGGGCCTGGGCCTGGGCCTGGGCCTGGGCCT	C2652758G	NOP56	NM_006392.3(NOP56):c.3+71_3+75[(16_?)]	noncoding	Pathogenic
20	2652732	AGGGCCT	A	G2652752C	NOP56	NM_006392.3(NOP56):c.3+71_3+76GGCCTG(3_14	noncoding	Benign
20	2660532	AT	A	T2660533C	IDH3B	NM_006899.5(IDH3B):c.589del:p.Ile197fs	coding	Pathogenic
20	2861056	CACAGGCT	C	G2861060T	VPS16	NM_022575.4(VPS16):c.721_727del:p.Gly241fs	coding	Pathogenic
20	3045699	A	AGCCCC	A3045718C	GNRH2	NM_178331.2(GNRH2):c.309_313CCGCC[4]:p.Ser109fs	coding	Benign
20	3213171	C	CG	T3213173G	ITPA	NM_033453.4(ITPA):c.70dup:p.Val24fs	coding	Pathogenic
20	3215285	TG	T	G3215287T	ITPA	NM_033453.4(ITPA):c.270del:p.Trp90fs	coding	Pathogenic
20	3229017	GCAGACGGGCA	CCGGCCGGCC	G3229017C	SLC4A11	NM_001174089.2(SLC4A11):c.2019-16_2019-6delinsGGCCGGCCGG	noncoding	Pathogenic
20	3230597	CGTA	T	C3230597T	SLC4A11	NM_001174089.2(SLC4A11):c.1330_1333delinsA:p.Tyr444_Ala445delinsThr	coding	Pathogenic
20	3233572	C	CT	A3233573T	SLC4A11	NM_001174089.2(SLC4A11):c.670_671insA:p.Trp224Ter	coding	Pathogenic
20	3233954	CCT	C	C3233955G	SLC4A11	NM_001174089.2(SLC4A11):c.570_571del:p.Val192fs	coding	Pathogenic
20	3233961	CTG	C	T3233964G	SLC4A11	NM_001174089.2(SLC4A11):c.563_564del:p.Thr188fs	coding	Pathogenic
20	3234173	TGGCGAAGC	G	T3234173G	SLC4A11	NM_001174089.2(SLC4A11):c.425_433delinsC:p.Arg142fs	coding	Pathogenic
20	3234173	TGGCGAAGC	T	G3234182A	SLC4A11	NM_001174089.2(SLC4A11):c.417_424GCTTCGCC[1]:p.Arg142fs	coding	Pathogenic
20	3234297	GTTCT	G	C3234300A	SLC4A11	NM_001174089.2(SLC4A11):c.305_308del:p.Lys102fs	coding	Pathogenic
20	3237579	GGA	G	A3237583T	SLC4A11	NM_001174089.2(SLC4A11):c.49_50TC[1]:p.Pro18fs	coding	Pathogenic
20	3237656	TC	T	C3237660G	SLC4A11	NM_001174089.2(SLC4A11):c.44-69del	coding	Pathogenic
20	3596367	T	TC	A3596375C	ATRN	NM_139321.3(ATRN):c.3417-3dup	noncoding	Benign
20	3668985	ATCTGGACT	A	C3668987G	ADAM33	NM_025220.4(ADAM33):c.2412_2419del:p.Gln804fs	coding	Benign
20	3672331	TGCGCA	T	C3672333G	ADAM33	NM_025220.5(ADAM33):c.1402-7_1402-3del	noncoding	Benign
20	3688588	GT	G	T3688589C	SIGLEC1	NM_023068.4(SIGLEC1):c.5101del:p.Thr1701fs	coding	Benign
20	3889603	GCAGCGCGT	G	A3889605G	PANK2	NM_024960.6(PANK2):c.-246+701_-246+708del	coding	Pathogenic/Likely_pathogenic
20	3889635	GCTGAGGGCACGAGGCGGGATCGA	G	A3889639G	PANK2	NM_153638.4(PANK2):c.539_561del:p.Glu180fs	coding	Pathogenic
20	3889668	TAC	T	C3889670G	PANK2	NM_024960.6(PANK2):c.-246+766_-246+767del	coding	Pathogenic
20	3889672	GC	G	C3889673G	PANK2	NM_153638.3(PANK2):c.573del:p.Ser191fs	coding	Pathogenic
20	3908117	ACT	A	C3908120G	PANK2	NM_024960.6(PANK2):c.-53_-52CT[1]	coding	Pathogenic
20	3908147	T	TTTATA	C3908153T	PANK2	NM_153638.3(PANK2):c.851_855dup:p.Arg286fs	coding	Pathogenic
20	3908205	AC	A	C3908206T	PANK2	NM_001324193.2(PANK2):c.-328+71del	coding	Pathogenic
20	3908223	CTGTCTTT	C	C3908227G	PANK2	NM_001324193.2(PANK2):c.-328+92_-328+98del	coding	Pathogenic
20	3910677	ATTAC	A	A3910680T	PANK2	NM_001324193.2(PANK2):c.-224_-221del	coding	Pathogenic
20	3910689	AC	A	C3910692T	PANK2	NM_001324193.2(PANK2):c.-212del	coding	Pathogenic
20	3910755	T	TG	T3910758G	PANK2	NM_153638.3(PANK2):c.1162dup:p.Val388fs	coding	Pathogenic
20	3910770	CAG	C	A3910771G	PANK2	NM_001324193.2(PANK2):c.-133_-132del	coding	Pathogenic
20	3912471	A	ACT	T3912474C	PANK2	NM_001324193.2(PANK2):c.-59_-58dup	coding	Pathogenic
20	3912472	CT	C	T3912479G	PANK2	NM_001324193.2(PANK2):c.-52del	coding	Pathogenic
20	3912538	CT	C	T3912539C	PANK2	NM_153638.3(PANK2):c.1317del:p.Arg440fs	coding	Pathogenic
20	3916912	T	TTTCCCC	C3916919T	PANK2	NM_024960.6(PANK2):c.540-14_540-9dup	noncoding	Benign
20	3916939	GATGA	G	A3916940G	PANK2	NM_024960.6(PANK2):c.553_556del:p.Met185fs	coding	Pathogenic
20	3916955	CGAG	C	G3916956A	PANK2	NM_024960.6(PANK2):c.569_571del:p.Arg190_Glu191delinsGln	coding	Pathogenic
20	3917027	GC	G	C3917028A	PANK2	NM_024960.6(PANK2):c.641del:p.Ala214fs	coding	Pathogenic
20	4699379	C	CGGTGGTGGCTGGGGGCAGCCTCATGGTGGTGGCTGGGGGCAGCCTCAT	C4699448T	PRNP	NM_000311.5(PRNP):c.154_177[(6_13)]	coding	Pathogenic
20	4699379	C	CGGTGGTGGCTGGGGGCAGCCTCATGGTGGTGGCTGGGGGCAGCCTCATGGTGGTGGCTGGGGGCAGCCTCATGGTGGTGGCTGGGGGCAGCCTCATGGTGGTGGCTGGGGGCAGCCCCATGGTGGTGGCTGGGGACAGCCTCATGGTGGTGGCTGGGGGCAGCCTCATGGTGGTGGCTGGGGGCAGCCTCAT	C4699448T	PRNP	NM_000311.5(PRNP):c.227_228insTCATGGTGGTGGCTGGGGGCAGCCTCATGGTGGTGGCTGGGGGCAGCCCCATGGTGGTGGCTGGGGACAGCCTCATGGTGGTGGCTGGGGGCAGCCTCATGGTGGTGGCTGGGGGCAGCCTCATGGTGGTGGCTGGGGGCAGCCTCATGGTGGTGGCTGGGGGCAGCCTCATGGTGGTGGCTGGGGGCAGCC:p.60_67PHGGGWGQ[12]	coding	Pathogenic
20	4699448	CCATGGTGGTGGCTGGGGACAGCCT	C	A4699466T	PRNP	NM_000311.5(PRNP):c.246_269del:p.60_67PHGGGWGQ[3]	coding	Benign/Likely_benign
20	5954627	TTTGA	T	T5954632G	MCM8	NM_032485.6(MCM8):c.274_277TTGA[1]:p.Ile93fs	coding	Pathogenic
20	5977950	T	TTA	C5977951T	MCM8	NM_032485.6(MCM8):c.1470_1471insTA:p.Leu491fs	coding	Pathogenic
20	6075395	T	TA	T6075397A	FERMT1	NM_017671.4(FERMT1):c.*1777dup	noncoding	Benign
20	6077337	CGAT	C	T6077340C	FERMT1	NM_017671.4(FERMT1):c.1867_1869del:p.Ile623del	coding	Pathogenic
20	6084043	A	AT	C6084044T	FERMT1	NM_017671.4(FERMT1):c.1714_1715insA:p.Val572fs	coding	Pathogenic
20	6089067	CT	C	T6089071G	FERMT1	NM_017671.4(FERMT1):c.1161del:p.Ala388fs	coding	Pathogenic
20	6094885	TATCTTCAAGACTTTGTTATGAGTAACTCCTTTTCCCCATAAAAGTTTACTTACCTAAATAATTTGAGATTATCTGCAAGTTTAGGGATATCAGTAATGTCCTCCTAAGAAAAAACAAATAAAGTTTCAAAAGCAGGAACTTCATAAGTGATGCTGATACTCAACCTGCACTGTCTAATATGGCAGTCCCTTGCTATATGTGCCTATTTAAATTTGAATTAATTCAAATTAAATAAAATGAAAAACTCAGTTCTTCAGTTTACACTCGCTACATTTCTGATAGTTAACTGGGTGTGGGAGTAAGGAGGATTGGGAGGAGAATGGGGGCCCTGTTGAGGTCCCCTAGGTGGCTGGCAAAGTTCTGTTTCTTGATTTCAGTGGTGACTTGGGTGACAATTGAATACTAATTTGTTAAGCTGTACATATGTGTATTTTTCACTTTTCTGTTTGTGTCGTAGATTACAAAAATGAAAAACGAGATGAAAAAAATGAAAAAGTGGATCAAGTACTCCCTATAACTATCATTCAAGTTAAAAATCTGAATTAGAAATGACTACTTTTATATGCAAACAAAAGATTTTATAATTTTTATATAAGAGTGGGTAACTCCTGCTACACCTAGGTCACTGATTAAACTTTCAAAGTGAACCTTGTTCAAAGTTCATTCTGTAATGTAGGCTGGTGCCTGTTTTCAAACTGAAAAGCCTATTGTTAGCATCACGTAAAACTATTAAGGGAGGGAGGACATAACTTTTTATTTATTCTAAAAAGAATTACTTTCCTGTTGTATTTATTCAGCGGAGAAAGTAGACAACAGAGAACTCCAAGTTCATGGGGCCTATGTCTTCTATAAACGTGACACAGGGCCCTGCATCTCTACAGAATCTTGGCGTTTAGTTTGCACGAAGTATTTGCTCCTGAATGAGACCAGTTTCTTATTTTAGGACATTTAATGATAAGAGAACATACATTGAATGCAGAAGAATATAGTAACTAATTCTAATCCATGATTACTGCTTACATCTAATTATGGTGGACCCACCTCTCTGATTCAATGTGATTAATAATTATTCCCATGGCCGAAGTTAAACAAAAGTGTGGCACCTCATGAGTGAATTAAACAGGAGGGGCATTTCAGTTATAAAGCTGACATTCACCTTTCATGGATAAGGAGAAAGAGATGACAAAACAGTTTTCTTTGTTTTATTGGAGGGTTTTCGTTTGTCTCCTGAAGTCAAAAGCATTCAGAAACTTTTTGCAATGTTCCAGAAAAAGGCCACAACTTTGGTCAAGCTTGTCTGGTTGAAATGGATGACCAAGTAAATAGAAATAAGGTTTTTATCGGTAAAGAATTTTCTTGGCCGGTCACAGTGGCTCATGCCTGTAATCTCAACACTTTGGGATGCTGAGGTGGGAGAGTCACTTGAGCCCTGGAGTTAGAGACCAGCCTGGGGAATATGGCAAACCTTGTCTCTACAAAAAATACAAAAATTAGCCAGGCACAGTAGTGTGTGTCTGTAGTCCCAGCTACTCCGGAGGCTGAGATGGGAGGACTGCTTGAGCCCAGGAGGCTGAGGCTGCAGTGAGCCTTGATTGCACTACTGATTGTCTCAGAAAAAAGAAAAAAGGAAACAATTTTCTTTATTCTATTCTCACAGCTGCTCCATGTAATAGACAGGGTGGTATTTTCTAGACTTAAGTTTAGGGACCAAGTCCACATTCCATGCTAGTGAAGTGGAGCCCTCAGCAGTGGCTCCTTCACACCATGCCAACTTACCTCTAGGAAGAAATATAACACAAAAGTATTGTCATTAGTAGAGATGAAAATATAGTCCCTTGTGGAGCTAACCCATGAAAAGTTAGTTCACTAGGTTGAAGCTTGTTAGGTGAAGAGCATCTTTTTTTTTTTTTTTTTTTCAAAATCAGATGAAATATTCTCTTCTAATAAAGAAAAGTTCATTTATACTTGTCAATCAGAAGAAAGCCACAGTTCTGGGTGATCAGAAAAAGTTCATACCAAAAGGCTGTCCGCTTTTCCACCTTCTAGGGTTACTTCCAAATTAGAAAGCGCCGCTTCTATTTCATCAACCTCGGACTCGCCTGCAAAATCCTGTGTTTCAGCAGACAACGACAGTTTGCTAATGTGGTACTAAAATGAAAACAGACGTTTTAGAAATGTTATAAACAGAAATGTTATAAATATAAATGAATCCATTAGCCATTTTTTTCTTTGAGGACTATTCCCTTGGAATACTGAACATCTCCTAAACAGAGGTCTCCTTCCCGTGTGGGGAAAATGACATTTTAACCTGAATCGTTCTGAGGTTCATGGTTAGTCATGTTACAACTGGCTCTTTCTCATCACTGATTGTGCTCACAGTAGGGAAGAGATAATAATTGCAAGACTAGTGTCTTACAGAGGATGTGAGCGTGTGTGGATTATGAGGAGCATTTTAAATTAAAAATTTGTTCTGGTCTGAAGAAGAAAGCAAAATAAAAAATACAGAAAACAATTGCTCTCCTTATTTTCAGATATTTCTTCAAAGAACAAAAAAAAACCAGTATGAAGCATATGAAACTTCAAGCAGAACAAACTTGGTTTGTCTCCTTCCAGAGAAAAGGTACTGAAGTTCCCATACCTGTAGAGCTGCAAAGATCAACATTTCTTCCTCTGTGCAATCAATTTCTTCTAAGAGAATGGCCCACCTGGCTTGCTCATAGAGTTGGTTTATTCGGACAGCATCATACTAGAGACAAAAACAGAGGTGTGTGTGTAATGAGGTATATTTATATCCCACAATACAAAGATTCTGAAACAACTGAGGCCATTCTCTGTTAATCAGATGCAGCAAACTTCAGCTCAGGTAAGTGAAAGGAATACTTCTATTGTGCCATATACTCAGCACTTTTTTTTTAAAGTTTTTTTTTTTTTAATTTTTTATTTTTTTGAGACAGGGTCTCACTCTGTCGCCTAGGCTGGAGTACAGTAGTGCAATCTTGGCTCACTGCAACGTCCGCC	T	A6094886T	FERMT1	NM_017671.4(FERMT1):c.850-272_1139+53del	noncoding	Pathogenic
20	6096995	CTG	C	G6096999T	FERMT1	NM_017671.4(FERMT1):c.992_993CA[1]:p.Gln332fs	coding	Pathogenic
20	6110367	T	TG	T6110375G	FERMT1	NM_017671.4(FERMT1):c.676dup:p.Gln226fs	coding	Pathogenic
20	6110493	C	CT	G6110495T	FERMT1	NM_017671.4(FERMT1):c.550dup:p.Ser184fs	coding	Pathogenic
20	6112544	AT	A	T6112549G	FERMT1	NM_017671.4(FERMT1):c.464del:p.Asn155fs	coding	Pathogenic
20	6115822	CA	C	A6115823G	FERMT1	NM_017671.4(FERMT1):c.373del:p.Cys125fs	coding	Pathogenic
20	6115894	AGAC	A	C6115897A	FERMT1	NM_017671.4(FERMT1):c.299_301del:p.Arg100del	coding	Pathogenic
20	6122303	CATCTAAGGAGACCAAAACAAGAAGCAAAGTTACTGGCAGAGTGCTGAAAAGCCCTTCGCAGACAGTCAAAGAAACGAAAGCATGGAGGGATGGAGAGCAGGAAGGAGGAAAGATGAGGGGGAAACAGTCCCCGACCCTTCCCCTGGAATATCTGAAGGTGCTTGGTGTTCGAAGGCCACCCGACCTGTCTTTTGCCAGCTCTGCAGGATCCTGGGGCGGATGTTGGGTGGATAAAGCATGCCCCTTACTCCCATTAAGGCAGCACCTGCGGCTGAACTGAAAGTTTATTTTGCGGCCAGATGCGTAGGGCCGGAGAAGGTGGTCACATCCAGACGAAATTATTTTCAATCAACAGCTATTTAAGTACAAGAGGCTGCAGAAAGAAAGGGGCTAAGGGGGCTCAGGAGCCACTGGTGCCCATGAAAGCCTCCCAACCTCTAGCTCCCCAGCCCTAGCTCCGGAGCACCCACCTCCTTTCCAGGAGCCCGTAGCGTCCAGCCTCGCAGTCGCGCACGTGGAGAGCTGCGTCCCTACAAACTACCCCGGGCCGAGCCGAGGAGCGGGCGCTGGCGAAGTGGGGAGCGGGGGGCGCCCAGTGGCGGCGGCTGCTCAGCTAAGGCTGCGGCAGGTGAGGGCTGGAGCCAGGGCGAGCAGGCGAAGCTGCCTCGGGACCTCCCACGGAGGCTCGGTGCCTGCCCCCAGCCTGGCGCGGCGTGCCCGGTGCACTGCACGGCCCCAGCGGCCCGGCTGAGGGCAGCGCGCAGCGTGGCAGGCGAGGGCACGCCCAGCCCCGGGCCTGCTAGGTCTCGCTCCCGCGGAGAGGAGGCGCAGTCTGCAGATTTTTAAGGGCAAAGGGTGGCCGAAGGGCTGCTCGGCGGAGAGAAGGCGGCGAGAACCCGGGGCGCACGCTCAGTATCTGCAGCTCCTCTTGCGATGTCTCATCCTGACGCTTTAAGGCCGCCTCCAGTTTCCCTGTTCCCCCAGGCCCGCCGGGGACTAGCCCAGATGATTAAAGCCGCGCCACTTCCCCTCCTTTCAGGCATACCCATCACTCACACCCCGGGGTGCGTCCAGGCCCAGGAGACTCCAGCCTCCCGCCTAGAACAGCTGCCTCCCTCAGAAAGAGCCCCGGAGCACTTGTGGTCAGGGAGGTGAAGGCAACGACAAAACGATTCGTCTCTGAGTAAGAGGGTGGTGTCAGTCTCCAGAAGGCTGAGGCTCCCGACCAGGGGAGACTCCAGGAGACCCAAGGGCAGGCTGCATGCGGAAGTCTGGGCCACACCTGGTATGGCTCACCTCAGGATCACCACCGGTCCCGCCAGTCGCCTTCCTGTTGGATTTATTTTCAAAGAGGGCTGGGGCCACCCAGGAAGGGTGGGTGACCTGGGCAGTTTACACAACCTCTCCAAGCCTCCTTTGTTCATTTAATCACATTTGTTGAGTGCTTACTGCTCTACAGGCCTCCCAATGGGCCTGGGCTCAGAGAATACAGTGGTTAATAAAACAGACATGGAAATGACAGTTTCCTCATCTGTGAAATAGGTACAGAGATAGAATGCGTGCTCTTCCACGGAGGGATTTCATGCAATATAGTACAGGCTTTAGCGATTTGCATTAAAAGGCTTGTGAACACTTAAATTTTAATAAAGAAGTTATAAAATTTAGAAGTTGAATCTGTTTTCGCTTAAACATTACCATATTCAGGAATTATTATGGGTTTGAAAGTACATTTAATTTAAAAAGGTTAGTTGAACATTGTTGGCAAATATAGGATATTATAATTGAAATAAAATCATTAAAAACTTGAAACAGAATGTCTTCACTTGGTAGCGTTTGTCAACGATGGGAAGGGTCATCTGGTCCCACTTCCCTACCTCTTAACATCATGAAACCCTGCTTATGGCCCATTAGAACTTAGACTGTGGTCAGTGCGCGCGCGCGCGCGCGCACAAA	C	A6122304C	FERMT1	NM_017671.4(FERMT1):c.0_-19+470del	noncoding	Pathogenic
20	6770118	AG	CC	A6770118C	BMP2	NM_001200.4(BMP2):c.-7-2_-7-1delinsCC	noncoding	Pathogenic
20	6778846	T	TC	G6778852C	BMP2	NM_001200.4(BMP2):c.953dup:p.Tyr320fs	coding	Pathogenic
20	10405481	CA	C	A10405484T	MKKS	NM_018848.3(MKKS):c.1478del:p.Leu493fs	coding	Pathogenic
20	10407645	T	TTTCA	G10407650T	MKKS	NM_018848.3(MKKS):c.1239_1242dup:p.Thr415Ter	coding	Pathogenic/Likely_pathogenic
20	10407661	TCC	T	C10407663A	MKKS	NM_018848.3(MKKS):c.1225_1226del:p.Gly409fs	coding	Pathogenic
20	10408718	GG	TT	G10408718T	MKKS	NM_018848.3(MKKS):c.1070_1071delinsAA:p.Ser357Ter	coding	Pathogenic
20	10412638	A	ACAGG	A10412643C	MKKS	NM_018848.3(MKKS):c.873_876dup:p.Cys293fs	coding	Pathogenic
20	10412669	C	CT	G10412671T	MKKS	NM_018848.3(MKKS):c.845dup:p.Leu283fs	coding	Pathogenic
20	10412739	GT	G	T10412741C	MKKS	NM_170784.3(MKKS):c.775del:p.Thr259fs	coding	Pathogenic
20	10413073	GAGTACTACTAA	G	A10413077C	MKKS	NM_018848.3(MKKS):c.431_441del:p.Phe144fs	coding	Pathogenic
20	10413079	TACTA	T	C10413081A	MKKS	NM_170784.3(MKKS):c.432_435del:p.Phe144fs	coding	Pathogenic
20	10413080	ACT	A	C10413081A	MKKS	NM_018848.3(MKKS):c.433_434del:p.Phe144_Ser145insTer	coding	Pathogenic
20	10413084	AAG	A	A10413085T	MKKS	NM_018848.3(MKKS):c.429_430del:p.Asp143_Phe144insTer	coding	Pathogenic
20	10413134	GC	G	C10413135A	MKKS	NM_170784.3(MKKS):c.380del:p.Cys127fs	coding	Pathogenic
20	10413233	GA	G	A10413235T	MKKS	NM_018848.3(MKKS):c.281del:p.Phe94fs	coding	Pathogenic
20	10413262	CAT	C	A10413263G	MKKS	NM_170784.3(MKKS):c.251_252del:p.His84fs	coding	Pathogenic
20	10413339	T	TGTGA	G10413345T	MKKS	NM_018848.3(MKKS):c.172_175dup:p.Gln59fs	coding	Pathogenic
20	10413467	TG	T	G10413469T	MKKS	NM_170784.3(MKKS):c.47del:p.Pro16fs	coding	Pathogenic
20	10434132	C	CCAGGCCGCCA	C10434144A	MKKS	NM_170784.2(MKKS):c.-683_-674dup	noncoding	Benign
20	10638291	TA	T	A10638302T	JAG1	NM_000214.3(JAG1):c.*1206del	noncoding	Benign
20	10638641	C	CA	T10638649A	JAG1	NM_000214.3(JAG1):c.*856dup	noncoding	Benign
20	10639011	TA	T	A10639019T	JAG1	NM_000214.3(JAG1):c.*486del	noncoding	Benign
20	10639897	CACCAAGCAACAGA	C	A10639898T	JAG1	NM_000214.3(JAG1):c.3245_3257del:p.Ile1082fs	coding	Pathogenic
20	10639941	A	AG	A10639945G	JAG1	NM_000214.3(JAG1):c.3213dup:p.Leu1073fs	coding	Pathogenic
20	10640782	CCTGTT	C	G10640790T	JAG1	NM_000214.3(JAG1):c.3196_3200del:p.Thr1066fs	coding	Pathogenic
20	10640797	AGAGGCCGCCTCTGAACTCTT	A	G10640798A	JAG1	NM_000214.3(JAG1):c.3165_3184del:p.Arg1056fs	coding	Pathogenic
20	10640812	ACT	A	C10640815T	JAG1	NM_000214.3(JAG1):c.3166_3167AG[1]:p.Arg1056fs	coding	Pathogenic
20	10640814	TCTTA	T	A10640818C	JAG1	NM_000214.3(JAG1):c.3164_3167del:p.Val1055fs	coding	Pathogenic
20	10640914	TC	T	C10640917G	JAG1	NM_000214.3(JAG1):c.3067del:p.Asp1023fs	coding	Pathogenic
20	10640919	TA	T	A10640920T	JAG1	NM_000214.3(JAG1):c.3062del:p.Ile1021fs	coding	Pathogenic
20	10641135	T	TTCGCTGAAGGGGAAGGC	A10641157T	JAG1	NM_000214.3(JAG1):c.3009_3025dup:p.Asn1009fs	coding	Pathogenic
20	10641143	A	AGGGGAAGGCTC	C10641156G	JAG1	NM_000214.3(JAG1):c.3007_3017dup:p.Ala1008fs	coding	Pathogenic
20	10641148	A	AAGGCT	C10641154A	JAG1	NM_000214.3(JAG1):c.3008_3012dup:p.Pro1006fs	coding	Pathogenic
20	10641151	G	GCT	G10641155T	JAG1	NM_000214.3(JAG1):c.3008_3009dup:p.Pro1004fs	coding	Pathogenic
20	10641194	C	CA	T10641199A	JAG1	NM_000214.3(JAG1):c.2966dup:p.Leu989fs	coding	Pathogenic
20	10641212	CA	C	A10641214T	JAG1	NM_000214.3(JAG1):c.2948del:p.Glu982_Leu983insTer	coding	Pathogenic
20	10641235	T	TAG	T10641238A	JAG1	NM_000214.3(JAG1):c.2924_2925dup:p.Thr976fs	coding	Pathogenic
20	10641432	CA	C	A10641442C	JAG1	NM_000214.3(JAG1):c.2916+27del	noncoding	Benign
20	10641480	T	TA	G10641484A	JAG1	NM_000214.3(JAG1):c.2895dup:p.Asn966Ter	coding	Pathogenic
20	10641535	CT	C	T10641538G	JAG1	NM_000214.3(JAG1):c.2840del:p.Lys947fs	coding	Pathogenic
20	10641545	AC	A	C10641547G	JAG1	NM_000214.3(JAG1):c.2830del:p.Pro943_Val944insTer	coding	Pathogenic
20	10641588	AGGGGTGGACGAAGC	TGCCCTGG	A10641588T	JAG1	NM_000214.3(JAG1):c.2774_2788delinsCCAGGGCA:p.Cys925fs	coding	Pathogenic
20	10641647	T	TC	G10641649C	JAG1	NM_000214.3(JAG1):c.2728dup:p.Glu910fs	coding	Pathogenic
20	10641647	T	TCG	T10641651G	JAG1	NM_000214.3(JAG1):c.2727_2728dup:p.Glu910fs	coding	Pathogenic
20	10641682	GCCACA	G	C10641686G	JAG1	NM_000214.3(JAG1):c.2689_2693del:p.Cys897fs	coding	Pathogenic
20	10641685	A	AC	A10641687C	JAG1	NM_000214.3(JAG1):c.2690dup:p.Cys897fs	coding	Pathogenic
20	10641824	TAC	T	C10641826G	JAG1	NM_000214.3(JAG1):c.2639_2640del:p.Asp879_Cys880insTer	coding	Pathogenic
20	10641824	TA	T	A10641825C	JAG1	NM_000214.3(JAG1):c.2640del:p.Asp879_Cys880insTer	coding	Pathogenic
20	10641835	T	TC	A10641839C	JAG1	NM_000214.3(JAG1):c.2629dup:p.Asp877fs	coding	Pathogenic
20	10641844	GCC	G	C10641847A	JAG1	NM_000214.3(JAG1):c.2619_2620del:p.Ala874fs	coding	Pathogenic
20	10641862	CTC	TGCATCA	C10641862T	JAG1	NM_000214.3(JAG1):c.2601_2603delinsTGATGCA:p.Ser868fs	coding	Pathogenic
20	10642508	CTGTGCCCTGGAGGGCAGACACA	ATGTGC	C10642508A	JAG1	NM_000214.3(JAG1):c.2530_2552delinsGCACAT:p.Cys844fs	coding	Pathogenic
20	10642551	CCA	C	C10642556G	JAG1	NM_000214.3(JAG1):c.2503_2504TG[2]:p.Val836fs	coding	Pathogenic
20	10642594	AT	A	T10642596G	JAG1	NM_000214.3(JAG1):c.2465del:p.Asn822fs	coding	Pathogenic
20	10643772	CCTTA	C	C10643777T	JAG1	NM_000214.3(JAG1):c.2458+2_2458+5del	noncoding	Pathogenic
20	10643817	CG	C	G10643818C	JAG1	NM_000214.3(JAG1):c.2418del:p.Cys806fs	coding	Pathogenic
20	10644358	AG	A	G10644361A	JAG1	NM_000214.3(JAG1):c.2370del:p.Cys791fs	coding	Pathogenic
20	10644864	C	CT	G10644866T	JAG1	NM_000214.3(JAG1):c.2342dup:p.Asn782fs	coding	Pathogenic
20	10644936	G	GC	A10644942C	JAG1	NM_000214.3(JAG1):c.2270dup:p.Thr758fs	coding	Pathogenic
20	10644949	C	CA	G10644951A	JAG1	NM_000214.3(JAG1):c.2257dup:p.Cys753fs	coding	Pathogenic
20	10645143	CTA	C	A10645145G	JAG1	NM_000214.3(JAG1):c.2225_2226del:p.Ile742fs	coding	Pathogenic
20	10645196	T	TCC	T10645202C	JAG1	NM_000214.3(JAG1):c.2172_2173dup:p.Asp725fs	coding	Pathogenic
20	10645196	T	TC	T10645202C	JAG1	NM_000214.3(JAG1):c.2173dup:p.Asp725fs	coding	Pathogenic
20	10645240	A	AT	C10645242T	JAG1	NM_000214.3(JAG1):c.2129dup:p.Asp710fs	coding	Pathogenic
20	10645244	CACTG	C	A10645249T	JAG1	NM_000214.3(JAG1):c.2118_2121CAGT[1]:p.Gln708fs	coding	Pathogenic
20	10645250	CTG	C	G10645252C	JAG1	NM_000214.3(JAG1):c.2118_2119del:p.Asp706fs	coding	Pathogenic
20	10645368	TCTTTC	T	T10645375A	JAG1	NM_000214.3(JAG1):c.2091_2095GAAAG[1]:p.Gly699fs	coding	Pathogenic
20	10645389	TAC	T	C10645391G	JAG1	NM_000214.3(JAG1):c.2078_2079del:p.Asp692_Cys693insTer	coding	Pathogenic
20	10645429	G	GC	A10645435C	JAG1	NM_000214.3(JAG1):c.2039dup:p.Thr681fs	coding	Pathogenic
20	10646019	AGGAGT	GGAG	A10646019G	JAG1	NM_000214.3(JAG1):c.1946_1951delinsCTCC:p.Asn649fs	coding	Pathogenic
20	10646069	TCA	T	C10646072G	JAG1	NM_000214.3(JAG1):c.1897_1898TG[1]:p.Cys633_Glu634delinsTer	coding	Pathogenic
20	10646966	CTT	C	T10646968G	JAG1	NM_000214.3(JAG1):c.1856_1857del:p.Lys619fs	coding	Pathogenic
20	10647958	AC	A	C10647960T	JAG1	NM_000214.3(JAG1):c.1720+1del	noncoding	Pathogenic
20	10647962	TCA	T	C10647965G	JAG1	NM_000214.3(JAG1):c.1714_1715TG[1]:p.Cys572_Glu573delinsTer	coding	Pathogenic
20	10647966	A	AG	T10647972G	JAG1	NM_000214.3(JAG1):c.1713dup:p.Cys572fs	coding	Pathogenic
20	10648023	CG	C	G10648027C	JAG1	NM_000214.3(JAG1):c.1656del:p.Glu553fs	coding	Pathogenic
20	10648078	GC	G	C10648079A	JAG1	NM_000214.3(JAG1):c.1601del:p.Cys534fs	coding	Pathogenic
20	10648553	CAG	C	A10648556G	JAG1	NM_000214.3(JAG1):c.1563_1564del:p.Cys522fs	coding	Pathogenic
20	10648595	C	CT	G10648597T	JAG1	NM_000214.3(JAG1):c.1522dup:p.Arg508fs	coding	Pathogenic
20	10648607	TTC	T	C10648609G	JAG1	NM_000214.3(JAG1):c.1509_1510del:p.Gln503_Asn504insTer	coding	Pathogenic
20	10648622	CCATT	C	T10648625A	JAG1	NM_000214.3(JAG1):c.1492_1495del:p.Asn498fs	coding	Pathogenic
20	10648631	CAG	C	A10648632G	JAG1	NM_000214.3(JAG1):c.1485_1486del:p.Cys496fs	coding	Pathogenic
20	10648658	T	TTC	C10648659T	JAG1	NM_000214.3(JAG1):c.1459_1460insGA:p.Asp487fs	coding	Pathogenic
20	10648664	TCA	T	C10648667G	JAG1	NM_000214.3(JAG1):c.1450_1451TG[1]:p.Cys484_Glu485delinsTer	coding	Pathogenic
20	10648670	TGA	G	T10648670G	JAG1	NM_000214.3(JAG1):c.1446_1448delinsC:p.His483fs	coding	Pathogenic
20	10649077	TTC	T	C10649079G	JAG1	NM_000214.3(JAG1):c.1377_1378del:p.Gln459_Asn460insTer	coding	Pathogenic
20	10649102	T	TA	T10649105A	JAG1	NM_000214.3(JAG1):c.1353dup:p.Asn452Ter	coding	Pathogenic
20	10649522	TTA	T	A10649524G	JAG1	NM_000214.3(JAG1):c.1346_1347del:p.Ile449fs	coding	Pathogenic
20	10650262	T	TTC	C10650263T	JAG1	NM_000214.3(JAG1):c.1218_1219insGA:p.Lys407fs	coding	Pathogenic
20	10650275	T	TG	C10650282G	JAG1	NM_000214.3(JAG1):c.1205dup:p.Gln403fs	coding	Pathogenic
20	10650281	G	GCA	T10650291A	JAG1	NM_000214.3(JAG1):c.1192_1193TG[5]:p.Pro401fs	coding	Pathogenic
20	10650359	G	GAGGA	T10650360A	JAG1	NM_000214.3(JAG1):c.1121_1122insTCCT:p.Ile375fs	coding	Pathogenic
20	10651617	ACT	A	T10651619A	JAG1	NM_000214.3(JAG1):c.1082_1083del:p.Glu361fs	coding	Pathogenic
20	10651617	A	TCAAAGCC	A10651617T	JAG1	NM_000214.3(JAG1):c.1084delinsGGCTTTGA:p.Cys362fs	coding	Pathogenic
20	10651644	C	CCTTACAGCTGCCTCTGTTGT	G10651665C	JAG1	NM_000214.3(JAG1):c.1037_1056dup:p.Glu353fs	coding	Pathogenic
20	10651653	T	TG	C10651655G	JAG1	NM_000214.3(JAG1):c.1047dup:p.Ser350fs	coding	Pathogenic
20	10651674	CAG	C	A10651679G	JAG1	NM_000214.3(JAG1):c.1021_1022CT[2]:p.Leu341_Ser342insTer	coding	Pathogenic
20	10651687	GT	G	T10651688G	JAG1	NM_000214.3(JAG1):c.1013del:p.His338fs	coding	Pathogenic
20	10652161	CAG	C	A10652162G	JAG1	NM_000214.3(JAG1):c.974_975del:p.Pro325fs	coding	Pathogenic
20	10652172	C	CACT	G10652176A	JAG1	NM_000214.3(JAG1):c.962_964dup:p.Cys322Ter	coding	Pathogenic
20	10652204	AG	A	G10652205T	JAG1	NM_000214.3(JAG1):c.932del:p.Thr311fs	coding	Pathogenic
20	10652207	TC	T	C10652212G	JAG1	NM_000214.3(JAG1):c.929del:p.Gly310fs	coding	Pathogenic
20	10652500	TCA	T	C10652503G	JAG1	NM_000214.3(JAG1):c.850_851TG[1]:p.Cys284_Glu285delinsTer	coding	Pathogenic
20	10652556	GA	G	A10652557T	JAG1	NM_000214.3(JAG1):c.797del:p.Ile266fs	coding	Pathogenic
20	10658467	CCT	C	C10658470G	JAG1	NM_000214.3(JAG1):c.691_692AG[1]:p.Arg231fs	coding	Pathogenic
20	10658497	TC	T	C10658499A	JAG1	NM_000214.3(JAG1):c.664del:p.Glu222fs	coding	Pathogenic
20	10658513	T	TG	C10658515G	JAG1	NM_000214.3(JAG1):c.648dup:p.Asn217fs	coding	Pathogenic
20	10658574	GC	A	G10658574A	JAG1	NM_000214.3(JAG1):c.587_588delinsT:p.Cys196fs	coding	Pathogenic
20	10658583	GC	G	C10658585A	JAG1	NM_000214.3(JAG1):c.578del:p.Gly193fs	coding	Pathogenic
20	10658594	AGTCATCACAG	A	T10658599C	JAG1	NM_000214.3(JAG1):c.558_567del:p.Cys187fs	coding	Pathogenic
20	10658624	C	CA	G10658628A	JAG1	NM_000214.3(JAG1):c.537dup:p.Glu180Ter	coding	Pathogenic
20	10658629	TG	T	G10658632C	JAG1	NM_000214.3(JAG1):c.532del:p.His178fs	coding	Pathogenic
20	10658702	T	TA	T10658703A	JAG1	NM_000214.3(JAG1):c.459_460insT:p.Lys154Ter	coding	Pathogenic
20	10663992	T	TCC	A10663995C	JAG1	NM_000214.3(JAG1):c.408_409dup:p.Glu137fs	coding	Pathogenic
20	10664011	A	AC	T10664014C	JAG1	NM_000214.3(JAG1):c.390dup:p.Ser131fs	coding	Pathogenic
20	10672710	GA	TT	G10672710T	JAG1	NM_000214.3(JAG1):c.377_378delinsAA:p.Phe126Ter	coding	Pathogenic
20	10672729	A	AT	G10672731T	JAG1	NM_000214.2(JAG1):c.358dup:p.Ile120Asnfs	coding	Pathogenic
20	10672737	GC	G	C10672738G	JAG1	NM_000214.3(JAG1):c.350del:p.Arg117fs	coding	Pathogenic
20	10672738	C	CG	T10672741G	JAG1	NM_000214.3(JAG1):c.349dup:p.Arg117fs	coding	Pathogenic
20	10672776	GC	G	C10672781G	JAG1	NM_000214.3(JAG1):c.311del:p.Gly104fs	coding	Pathogenic
20	10672817	GCC	G	C10672822G	JAG1	NM_000214.3(JAG1):c.269_270del:p.Gly90fs	coding	Pathogenic
20	10672817	G	GC	G10672824C	JAG1	NM_000214.3(JAG1):c.270dup:p.Pro91fs	coding	Pathogenic
20	10672859	CT	C	T10672862G	JAG1	NM_000214.3(JAG1):c.228del:p.Val77fs	coding	Pathogenic
20	10672884	G	GC	G10672886C	JAG1	NM_000214.3(JAG1):c.203dup:p.Asp69fs	coding	Pathogenic
20	10672895	T	TG	C10672897G	JAG1	NM_000214.3(JAG1):c.192dup:p.Lys65fs	coding	Pathogenic
20	10672911	CCGGG	C	G10672914C	JAG1	NM_000214.3(JAG1):c.173_176del:p.Ala58fs	coding	Pathogenic
20	10673489	TA	T	A10673490G	JAG1	NM_000214.3(JAG1):c.41del:p.Leu14fs	coding	Pathogenic
20	10673500	CG	C	G10673502A	JAG1	NM_000214.3(JAG1):c.30del:p.Arg12fs	coding	Pathogenic
20	10673506	GGCCGCGCGTCCGTGGGGAACGCATCGCTGC	G	T10673515C	JAG1	NM_000214.3(JAG1):c.-6_24del:p.Met1_Gly8del	coding	Pathogenic
20	10673523	G	GA	C10673526A	JAG1	NM_000214.3(JAG1):c.7dup:p.Ser3fs	coding	Pathogenic
20	13785296	CCCGCGGGG	C	C13785298G	NDUFAF5	NM_024120.5(NDUFAF5):c.222+8_222+15del	noncoding	Benign
20	13785297	C	CCGGCGGGGCGGCGGGG	C13785300G	NDUFAF5	NM_024120.5(NDUFAF5):c.222+9_222+10insGCGGGGCGGCGGGGCG	noncoding	Benign
20	17465559	TG	T	G17465564T	PCSK2	NM_002594.5(PCSK2):c.1430+11del	noncoding	Benign
20	17494075	TAA	T	A17494076G	BFSP1	NM_001195.5(BFSP1):c.1995_1996del:p.Ter666LysextTer?	coding	Benign
20	17497088	TGTTGAGCAAAAATGAAAAAAAAGCTTTCTCTAGACCAAATTGCTCACGAATTAGATATCATTTTAAACAGACAGCCATACACACATTTACATACTGGATGAGGACATAAAGGAAGTGATCATTTCTTTGAGCTCAAGAGTCATAAACTGTGAAACATACCTATAAAAAATTGTAAAGTGGGGATTGCTTATAACCTAAAAATGCCACTTCTCCATGAGACAGTGCCTTTTTTATTTTTTTGCCTTTTGTTTTTTTGCCTTTTTGATTTTTTTAGTTAGAGTAGTCAACCCAGGCTGAAGTATTTAGGGCAAACAGAGTATGATATCTCCAACTTAAGATATATGTATATATACGTGTATGTATATATATATACACACACACACGTATATATACGTGTGTATATATATATACACGTATATATACGTATATATATACACACACGTATGTATATATGTGTGTATATATGTATATGTGTGTGTATATGTATATATACGTATATATATACGTGTATATATATACGTATATATACATATACACACACATATATACATATATACATATATCTACTCATATATACGTATATACATATATACATATACATGTACACACACACATCATATATAAATAGAGAAAAAATGATAAAGCAATTGAGATAAAATATAAACAACTGGTGAATCTGGAGTATTCAGGAGTTCCTTGTTCTATTCTTGCAACATTTCTATCAATTTAAAATTAGACCAAAATCAGAACTTATAGATAAATAAAAGAGGTATCCAGTCACCTTTCTGTGAAGCCCTGTCCCAAAACAAAAATGTTTACAAAGTCACCGAAATGCCAGCTCCAGACTTATTCTTGCAGATGTGTGCATAGTGTTCACTGTGACATAAATATAATGTGGAATCATGCCAGATACACCGACCAGCACTGGAGAAAGAAAAATAAAATCCTGCTTCTCCTGCCAAGCATTCGAGTGCTCACAGCCAAGAGAGAGCACCCAGCGCGAAGGGAAGAGCTGCTCCTGGTGGGGACCTCAGTTGTGGGGGGCTTCTCTTTTCATTCAGTCGAAACCCAGGAATTTAGCAAGACTGAAGTGAAGAATCACAAATTAATTCCCAACCCGTTCTCTGGAAATCACCGTAGCTATGAATACCAGCATAGCTGGAGAGAAAGAGAGAATTTCCCAGCTTTCTTAAAGTGAGTAGGGATCGACTCACAGCTCCATTATGGAGAAGACCAGACAGCCACATAGTCACAGCCACAGACTGACTCAGCAAGGTGCTAAGAATTGTGAGGATGGCAGCAGGAGCATCACCAACACCTCTGAGTGCCCTCAAGTGCCAGGCTCCGTGCCACGTAGCTCACCTGCAGCACCTCATTAAATACTCCTGGGCATCCCACCTGCTGGGACACTTATGTCCCCAGAGGCCTATGAGCAAAACACAGGCTTCTCAGTGAGGCCTTTTCTGACCACCCTACTTAAAACTGCAAGCATTCCCCCATCACCCCTATTGCCACCACCCTCCTCCCTGCGGGAACTTCCTCCTCAGCACTGGTCGTACCTTCATCCTCTGTCTCCCCTACTAGTTATCCAACACCCATGGGGTCAGGAATTGTTCTGTTTCCTTCCCTGACACATGCCCACTGCCTATAACTGTGCCTGGCACACAATAGGCACTCAATAAAGAGTTGTGGAAGGAATAAGTGGCCTGGATGGGGAGGGCACACGCTCACCTGTTGCCTTCAATCTCGATGATACGATGATACCGGTCCAGCTCATTCTTCAGGGTTTGCTGGGCGACCGCCAGCTGCCGGCAGTCGTAAGAAGACTTCTCCAGGACCCGCTCTGTCTCCTCAATCTCCTTGCGCAGTGTCTCAATCTGCTCGTTATAAAGCTGAATCTCATCGTCATAACACTCATGGGCACTTTTAATAGCTTGTTCCAGAGTTGTTGTCTGTGGGCAAGGACACGCTGTAAGAAAATCCATCCCCCTTCTTCTCTAAGAGACAGACCTCACCAGGAAAAGGAACCTGGACTCGGTGAATGTTTTATGTTGTTTGTGTGTTTCTCTGTCCATTCGAGATTAGCAATGAATCACTTTGGAATCCTTAAGCTAAAAAGCAATGTGAAAACTGAGCTCCTGTGTCCTTACACAATTTTTTTTTTTTTTTTTTTTGATAGAGGATCTCACTTTGTCACCAGGCTGGAATGCAGGAGTGCAATCTCGGCTCACTGCATCCTCGACCTCCCAGGCTAAAGGCTTCCACCTCAGCCTCCTGAGTAGCTGTGACTACAGGCAAGCACCAACATGCTGGGCTTTTTTTTTTTTTTTTTTTTTTTGGTAGTGATAGGGTCCCACTTCGTTGCCCAGGCTGGTTTCAAACTCCTGGCTTCAAGTGATCCTCCCACCTCAGCCTCCCAAAGTGCTGGAATTACAGGTGCGAGTCACCGCACCCAGCCCTTCTTGCACTAATATCAGCACCCTCTGCAATTAGTCCATAAGGAGGCCCACCCCAAAGGCAGTCTGAAGACAAACCTAGAAAATAAAACGAAACCTAGGCCAGGTGGCTCACACTTGTAATCCCAGAACTTTGGGAGGCCGAGGCTAGCAGATCACTTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATAGTGAAACCCCATCTCTACTAAAAATACAAAAATTAGCTGGGAGTGGTGGCACACGCCATAATCCCAGATACTTGGGAGGCTGAGGCAGGAGAATCACTTGAACCTGGGAGGCAGAGGCTGCAGTGAGCCAAGACCACACCATTGCACTCCAGCCTGGGCAACAGAGCAAGACTCTGTCTAAAAGAAAAAGAAAAAAAACTTGCTATCGGTGGAATAATATGTATAATTCAAATAAAGTACATTCTTCAGACTTTAATGAACAAGCATAAATCTGATAGCAAAAAAATAAGTAAAAAGAAGCACATACTAAATAGATAAGATGCTACCTTTATTGAAATACTGAGTGGGAGAAAAGTTTCCTTGTTCTCATTCAGCTTTGATTTTCTCCCGAGTTTGGATCGGCAGAGTTACATTTATGTTTTGGTAGCTAAGGTGTATGTGTGTGCCCTTGTGTACACATAAAATAATGTCAGAGAAATACAGTACATTAATCAGAGCAAGTAAAAATTAAGGGAGGAAAACAGAAAGAGATAGTTTTATATTCAGTGTAAGAGGTTGTGATGATACACAAAGACCCACAAATGCTCAGTCATGGGCCACATAACAGTACTGCAGTCAACAATGGACTGCATATAGGATGGTGGTCCCATAAGAGTACAATGGAGCTGGACAATTCCTGTCGCC	T	G17497089T	BFSP1	NM_001195.5(BFSP1):c.736-1384_957-66del	noncoding	Pathogenic
20	17531223	GC	AA	G17531223A	BFSP1	NM_001195.5(BFSP1):c.106_107delinsTT:p.Ala36Phe	coding	Benign
20	17970216	TC	T	C17970218T	MGME1	NM_052865.4(MGME1):c.359del:p.Pro120fs	coding	Pathogenic
20	18057973	A	ACCGGTTCCGGCGGCCGGGGCTG	T18057998G	OVOL2	NM_001303461.1(OVOL2):c.-297+895_-297+916dup	noncoding	Pathogenic
20	18524642	CAAGGATT	A	C18524642A	SEC23B	NM_006363.6(SEC23B):c.576_583delinsA:p.Thr192_Lys193insTer	coding	Pathogenic
20	18525912	AT	A	T18525914G	SEC23B	NM_006363.6(SEC23B):c.816del:p.Ile272fs	coding	Pathogenic
20	18560747	GAT	G	T18560749C	SEC23B	NM_006363.6(SEC23B):c.*9_*10del	noncoding	Benign/Likely_benign
20	18561055	T	TA	G18561059A	SEC23B	NM_006363.6(SEC23B):c.*318dup	noncoding	Benign
20	19886698	CT	C	T19886701A	RIN2	NM_001242581.1(RIN2):c.32del:p.Leu11fs	coding	Benign
20	19975749	A	AC	A19975757C	RIN2	NM_018993.3(RIN2):c.1731dup:p.Ile578fs	coding	Pathogenic
20	19975749	AC	A	C19975756A	RIN2	NM_018993.3(RIN2):c.1731del:p.Ile578fs	coding	Pathogenic
20	19990156	AGC	A	G19990157T	RIN2	NM_018993.3(RIN2):c.1914_1915del:p.Glu638fs	coding	Pathogenic
20	21126195	TGCGGGACAGGTAAGGGCACTGGG	T	A21126201G	KIZ	NM_018474.6(KIZ):c.86_89+19del	coding	Pathogenic
20	21132125	AAACT	A	A21132126T	KIZ	NM_018474.6(KIZ):c.119_122del:p.Lys40fs	coding	Pathogenic
20	21136486	ATTTGAGCG	A	T21136488G	KIZ	NM_018474.6(KIZ):c.251_258del:p.Phe84fs	coding	Pathogenic/Likely_pathogenic
20	21162167	G	GA	T21162172A	KIZ	NM_018474.6(KIZ):c.706dup:p.Met236fs	coding	Pathogenic
20	21162227	AG	CT	A21162227C	KIZ	NM_018474.6(KIZ):c.762_763inv:p.Gly255Ter	coding	Pathogenic
20	21162410	AGCCAGCCC	A	C21162416T	KIZ	NM_018474.6(KIZ):c.951_958del:p.Pro318fs	coding	Pathogenic
20	21162464	T	TA	G21162467A	KIZ	NM_018474.6(KIZ):c.1001dup:p.Trp335fs	coding	Pathogenic
20	21709451	A	AGCG	C21709455G	PAX1	NM_006192.5(PAX1):c.1282+8_1282+10dup	noncoding	Benign
20	23365436	C	CA	C23365438A	GZF1	NM_022482.5(GZF1):c.1054dup:p.Thr352fs	coding	Pathogenic
20	25075807	TC	T	C25075808A	VSX1	NM_001256271.1(VSX1):c.627+3021del	coding	Benign
20	25076555	T	TAA	T25076567A	VSX1	NM_014588.5(VSX1):c.809-16_809-15dup	noncoding	Benign
20	25076555	T	TA	T25076567A	VSX1	NM_014588.5(VSX1):c.809-16dup	noncoding	Benign
20	25082347	GCCCACCCCAC	G	A25082361C	VSX1	NM_199425.2(VSX1):c.-271_-267GTGGG[2]	noncoding	Benign
20	25307980	G	GGCTCTTA	T25307991C	ABHD12	NM_001042472.3(ABHD12):c.846_852dup:p.His285Ter	coding	Pathogenic
20	25323409	TC	AAA	T25323409A	ABHD12	NM_001042472.3(ABHD12):c.337_338delinsTTT:p.Asp113fs	coding	Pathogenic
20	25339284	GA	G	A25339286T	ABHD12	NM_001042472.3(ABHD12):c.258del:p.Pro87fs	coding	Pathogenic
20	25339319	ATCTTCCTCAGGCG	A	T25339320C	ABHD12	NM_001042472.3(ABHD12):c.211_223del:p.Arg71fs	coding	Pathogenic
20	25390742	G	GGCCTCCGCC	G25390747C	ABHD12	NM_001042472.3(ABHD12):c.-40_-39insGGCGGAGGC	noncoding	Benign
20	32216659	CA	C	A32216661G	POFUT1	NM_015352.2(POFUT1):c.482del:p.Lys161fs	coding	Pathogenic
20	32433354	TTG	T	G32433360C	ASXL1	NM_001363734.1(ASXL1):c.975_976GT[2]:p.Val327fs	coding	Pathogenic/Likely_pathogenic
20	32433480	CAG	C	A32433481G	ASXL1	NM_015338.5(ASXL1):c.1283_1284del:p.Gln428fs	coding	Pathogenic
20	32433603	A	AC	A32433605C	ASXL1	NM_015338.5(ASXL1):c.1406dup:p.Ser470fs	coding	Pathogenic
20	32433623	C	CCT	G32433626C	ASXL1	NM_015338.6(ASXL1):c.1426_1427dup:p.Glu477fs	coding	Pathogenic
20	32433628	AG	A	G32433631T	ASXL1	NM_015338.5(ASXL1):c.1433del:p.Gly478fs	coding	Pathogenic
20	32433643	C	CA	G32433645A	ASXL1	NM_015338.5(ASXL1):c.1446dup:p.Val483fs	coding	Pathogenic
20	32433739	CTG	C	T32433742G	ASXL1	NM_001363734.1(ASXL1):c.1359_1360TG[1]:p.Val454fs	coding	Pathogenic
20	32434599	TCACCACTGCCATAGAGAGGCGGC	T	A32434612C	ASXL1	NM_015338.6(ASXL1):c.1900_1922del:p.Glu635fs	coding	Pathogenic
20	32434638	A	AG	T32434647G	ASXL1	NM_015338.5(ASXL1):c.1934dup:p.Gly646fs	coding	Pathogenic/Likely_pathogenic
20	32434744	A	AG	A32434749G	ASXL1	NM_015338.6(ASXL1):c.2036dup:p.Gly680fs	coding	Pathogenic
20	32435117	AGCAAG	A	C32435119A	ASXL1	NM_015338.6(ASXL1):c.2407_2411del:p.Gln803fs	coding	Pathogenic
20	32435126	C	CCA	C32435130A	ASXL1	NM_015338.6(ASXL1):c.2416_2417dup:p.Val807fs	coding	Pathogenic
20	32435187	AG	A	G32435189A	ASXL1	NM_015338.5(ASXL1):c.2477del:p.Gly826fs	coding	Pathogenic
20	32435242	A	AC	A32435248C	ASXL1	NM_015338.6(ASXL1):c.2535dup:p.Ser846fs	coding	Pathogenic
20	32435475	TGTTGAGC	CAA	T32435475C	ASXL1	NM_015338.5(ASXL1):c.2763_2770delinsCAA:p.Val922fs	coding	Pathogenic
20	32435500	TG	T	G32435503A	ASXL1	NM_015338.5(ASXL1):c.2791del:p.Glu931fs	coding	Pathogenic
20	32435518	AC	A	C32435522T	ASXL1	NM_015338.5(ASXL1):c.2810del:p.Pro937fs	coding	Pathogenic
20	32435605	CGAG	C	A32435610C	ASXL1	NM_015338.6(ASXL1):c.2895_2897AGG[1]:p.Gly967del	coding	Benign
20	32435675	ACT	A	C32435678G	ASXL1	NM_001363734.1(ASXL1):c.2781_2782CT[1]:p.Asp927_Ser928insTer	coding	Pathogenic
20	32435854	GGT	G	T32435856A	ASXL1	NM_015338.5(ASXL1):c.3144_3145del:p.Asp1049fs	coding	Pathogenic
20	32436292	A	AC	A32436296C	ASXL1	NM_015338.6(ASXL1):c.3583dup:p.Gln1195fs	coding	Pathogenic
20	32436344	ACTCC	A	C32436349A	ASXL1	NM_001363734.1(ASXL1):c.3450_3453CTCC[1]:p.Leu1152fs	coding	Pathogenic
20	32436461	CACAGG	C	G32436466T	ASXL1	NM_015338.5(ASXL1):c.3754_3758del:p.Gln1251_Asp1252insTer	coding	Pathogenic
20	32436604	A	ACAGG	C32436610A	ASXL1	NM_015338.5(ASXL1):c.3894_3897dup:p.Gln1300fs	coding	Pathogenic
20	32436833	T	TG	T32436840G	ASXL1	NM_015338.5(ASXL1):c.4127dup:p.Pro1377fs	coding	Pathogenic
20	32436906	C	CT	G32436909T	ASXL1	NM_015338.6(ASXL1):c.4196dup:p.Leu1399fs	coding	Pathogenic
20	32787358	C	CT	A32787360T	DNMT3B	NM_006892.4(DNMT3B):c.562dup:p.Tyr188fs	coding	Pathogenic
20	32809213	AT	A	T32809221G	DNMT3B	NM_006892.4(DNMT3B):c.*1318del	noncoding	Benign
20	32997646	CT	C	T32997649C	SUN5	NM_080675.4(SUN5):c.381del:p.Val128fs	coding	Pathogenic
20	33179593	TC	T	C33179595G	BPIFA2	NM_080574.4(BPIFA2):c.646-9del	noncoding	Benign
20	33761915	AG	A	G33761916A	ZNF341	NM_001282933.2(ZNF341):c.1083del:p.Lys362fs	coding	Pathogenic
20	34413796	C	CA	T34413799A	ITCH	NM_031483.7(ITCH):c.394dup:p.Ile132fs	coding	Pathogenic
20	34438554	CA	C	A34438555C	ITCH	NM_031483.7(ITCH):c.603del:p.Leu202fs	coding	Pathogenic
20	34481114	CAAAG	C	G34481118T	ITCH	NM_031483.7(ITCH):c.2005_2008del:p.Glu669fs	coding	Pathogenic
20	34757917	T	TTGC	T34757944C	NCOA6	NM_014071.5(NCOA6):c.807_809GCA[9]:p.Gln285dup	coding	Benign
20	34945932	CA	C	A34945934T	GSS	NM_000178.4(GSS):c.275+20del	noncoding	Benign
20	34982536	A	ACGGGC	A34982547C	MYH7B	NM_020884.5(MYH7B):c.732_736CGGGC[3]:p.Lys248fs	coding	Pathogenic
20	34987283	TGA	T	A34987287T	MYH7B	NM_020884.4(MYH7B):c.1270_1271del:p.Ser425Cysfs	coding	Pathogenic
20	35000439	CCA	C	C35000442G	MYH7B	NM_020884.5(MYH7B):c.5055_5056CA[1]:p.Thr1686fs	coding	Pathogenic
20	35000895	TGAGGCTGGGCAAGGGCTGTGGG	T	G35000899C	MYH7B	NM_020884.5(MYH7B):c.5430+6_5430+27del	noncoding	Benign
20	35434270	GC	G	C35434273G	GDF5	NM_000557.5(GDF5):c.1144del:p.Ala382fs	coding	Pathogenic/Likely_pathogenic
20	35437631	T	TG	C35437638G	GDF5	NM_000557.5(GDF5):c.297dup:p.Arg100fs	coding	Pathogenic
20	35437723	G	GC	A35437731C	GDF5	NM_000557.5(GDF5):c.205dup:p.Ala69fs	coding	Pathogenic
20	35437770	CA	C	A35437771G	GDF5	NM_000557.5(GDF5):c.158del:p.Leu53fs	coding	Pathogenic
20	35437771	A	AG	C35437779G	GDF5	NM_000557.5(GDF5):c.157dup:p.Leu53fs	coding	Pathogenic
20	35437771	AG	A	G35437778C	GDF5	NM_000557.5(GDF5):c.157del:p.Leu53fs	coding	Pathogenic
20	35502641	CC	T	C35502641T	CEP250	NM_007186.6(CEP250):c.4272_4273delinsT:p.Leu1425fs	coding	Pathogenic
20	35502756	CTG	C	T35502757G	CEP250	NM_007186.6(CEP250):c.4388_4389del:p.Leu1463fs	coding	Pathogenic
20	35503417	AG	A	G35503419A	CEP250	NM_007186.6(CEP250):c.5050del:p.Asp1684fs	coding	Pathogenic
20	35503748	A	AG	A35503753G	CEP250	NM_007186.6(CEP250):c.5383dup:p.Glu1795fs	coding	Pathogenic
20	35652790	CA	C	A35652791G	RBM12	NM_006047.6(RBM12):c.2532del:p.Gly845fs	coding	Pathogenic
20	35690684	TA	T	A35690685C	NFS1	NM_021100.5(NFS1):c.409-120del	noncoding	Benign
20	36904183	GT	G	T36904186C	SAMHD1	NM_015474.4(SAMHD1):c.1476del:p.Lys492fs	coding	Pathogenic
20	36905365	CT	C	T36905369A	SAMHD1	NM_015474.3(SAMHD1):c.1408del:p.Arg470fs	coding	Pathogenic
20	36912508	TAA	T	A36912510G	SAMHD1	NM_015474.4(SAMHD1):c.1105_1106del:p.Leu369fs	coding	Pathogenic
20	36916755	TACTTCAC	T	C36916757G	SAMHD1	NM_015474.4(SAMHD1):c.1022_1028del:p.Val340_Cys341insTer	coding	Pathogenic
20	36927228	A	AC	A36927229C	SAMHD1	NM_015474.3(SAMHD1):c.649_650insG:p.Phe217fs	coding	Pathogenic
20	36927230	CAT	C	A36927231G	SAMHD1	NM_015474.4(SAMHD1):c.646_647del:p.Met216fs	coding	Pathogenic
20	36927314	CTT	C	T36927333G	SAMHD1	NM_015474.4(SAMHD1):c.626-64_626-63del	noncoding	Benign
20	36935042	C	CAA	T36935046A	SAMHD1	NM_015474.3(SAMHD1):c.494_495dup:p.Glu166fs	coding	Pathogenic
20	36935167	CCATGGATAGGAT	C	G36935171T	SAMHD1	NM_015474.3(SAMHD1):c.359_370del:p.Asp120_His123del	coding	Pathogenic
20	36951488	G	GGAGC	A36951493G	SAMHD1	NM_015474.4(SAMHD1):c.152_155dup:p.Phe53fs	coding	Pathogenic
20	36951577	AG	A	G36951582T	SAMHD1	NM_015474.4(SAMHD1):c.66del:p.Ser23fs	coding	Pathogenic
20	37179358	T	TGGCGCCGCCGGGTGAGGAGTTGCGCGTGG	C37179388G	MROH8	NM_002951.5(RPN2):c.3_13+18dup	coding	Benign
20	40686286	GA	G	A40686296G	MAFB	NM_005461.5(MAFB):c.*1592del	noncoding	Benign
20	40686949	C	CT	C40686961T	MAFB	NM_005461.5(MAFB):c.*929dup	noncoding	Benign
20	40688047	AT	A	T40688049C	MAFB	NM_005461.5(MAFB):c.803del:p.Asn268fs	coding	Pathogenic
20	40688206	CT	C	T40688207G	MAFB	NM_005461.5(MAFB):c.644del:p.Gln215fs	coding	Pathogenic
20	40688410	GC	G	C40688413G	MAFB	NM_005461.5(MAFB):c.440del:p.Gly147fs	coding	Pathogenic
20	40688715	AG	A	G40688718C	MAFB	NM_005461.5(MAFB):c.135del:p.Cys46fs	coding	Pathogenic
20	43571064	GGTGT	G	G43571099A	SGK2	NM_170693.3(SGK2):c.510+5GT[17]	noncoding	Benign
20	43619022	TCATG	CA	T43619022C	IFT52	NM_016004.5(IFT52):c.695_699delinsCA:p.Ile232_Met233delinsThr	coding	Pathogenic
20	43620849	T	TA	T43620852A	IFT52	NM_016004.5(IFT52):c.700-6dup	noncoding	Benign
20	43623999	CT	C	T43624000G	IFT52	NM_016004.5(IFT52):c.878del:p.Leu293fs	coding	Pathogenic/Likely_pathogenic
20	43637268	CT	C	T43637279G	IFT52	NM_016004.5(IFT52):c.1120+26del	noncoding	Benign
20	44118607	CC	TT	C44118607T	JPH2	NM_020433.4(JPH2):c.1185_1186delinsAA:p.Ala396Thr	coding	Benign
20	44311109	T	TC	G44311115C	FITM2	NM_001080472.4(FITM2):c.39dup:p.Thr14fs	coding	Pathogenic
20	44406107	TG	T	G44406108T	HNF4A	NM_175914.4(HNF4A):c.100del:p.Val34fs	coding	Pathogenic
20	44407437	GG	C	G44407437C	HNF4A	NM_175914.4(HNF4A):c.281_282delinsC:p.Arg94fs	coding	Pathogenic/Likely_pathogenic
20	44418422	CA	C	A44418423G	HNF4A	NM_175914.4(HNF4A):c.583-2del	noncoding	Pathogenic
20	44419771	CG	C	G44419774T	HNF4A	NM_175914.4(HNF4A):c.724del:p.Val242fs	coding	Pathogenic
20	44424158	CA	C	A44424159G	HNF4A	NM_175914.4(HNF4A):c.968del:p.Gln323fs	coding	Pathogenic
20	44621022	CT	C	T44621026A	ADA	NM_000022.4(ADA):c.970del:p.Arg324fs	coding	Pathogenic
20	44621032	CCTCTT	C	T44621034A	ADA	NM_000022.4(ADA):c.956_960del:p.Glu319fs	coding	Pathogenic
20	44621094	AAGATGAGCGGGTCATCTGTG	A	A44621095T	ADA	NM_000022.4(ADA):c.879_898del:p.Thr294fs	coding	Pathogenic
20	44622903	GC	G	C44622905G	ADA	NM_000022.4(ADA):c.705del:p.Leu236fs	coding	Pathogenic
20	44622918	G	GT	A44622920T	ADA	NM_000022.4(ADA):c.690dup:p.Leu231fs	coding	Pathogenic
20	44623036	C	CCCCG	G44623041C	ADA	NM_000022.4(ADA):c.645_648dup:p.Glu217fs	coding	Pathogenic
20	44624275	A	AC	A44624278C	ADA	NM_000022.4(ADA):c.532dup:p.Val178fs	coding	Pathogenic
20	44624275	AC	A	C44624277A	ADA	NM_000022.4(ADA):c.532del:p.Val177_Val178insTer	coding	Pathogenic/Likely_pathogenic
20	44625650	C	CT	A44625652T	ADA	NM_000022.4(ADA):c.396dup:p.Val133fs	coding	Pathogenic/Likely_pathogenic
20	44625679	TC	T	C44625683T	ADA	NM_000022.4(ADA):c.367del:p.Asp123fs	coding	Pathogenic
20	45001308	AT	A	T45001309G	STK4	NM_006282.5(STK4):c.1103del:p.Met368fs	coding	Pathogenic
20	45324679	CAG	C	G45324681C	RBPJL	NC_000020.10:g.43953320_43953321delAG	noncoding	Benign
20	45340366	CT	C	T45340368A	RBPJL	NM_002999.4(SDC4):c.61-4447del	noncoding	Benign
20	45416212	GC	G	C45416213T	PIGT	NM_015937.6(PIGT):c.57del:p.Trp20fs	coding	Pathogenic
20	45419514	CTG	C	T45419517C	PIGT	NM_015937.6(PIGT):c.606_607TG[1]:p.Val203fs	coding	Pathogenic
20	45420577	A	AC	G45420579C	PIGT	NM_015937.6(PIGT):c.918dup:p.Val307fs	coding	Pathogenic
20	45420578	C	CT	G45420579T	PIGT	NM_015937.6(PIGT):c.918_919insT:p.Val307fs	coding	Pathogenic
20	45891598	C	CCTG	A45891625G	CTSA	NM_001127695.2(CTSA):c.33_35GCT[9]:p.Leu19dup	coding	Benign
20	45891598	CCTG	C	G45891622A	CTSA	NM_000308.3(CTSA):c.87_89GCT[7]:p.Leu37del	coding	Benign
20	45891598	CCTGCTG	C	G45891619A	CTSA	NM_000308.4(CTSA):c.33_35GCT[6]:p.Leu18_Leu19del	coding	Benign
20	45891948	GC	G	C45891951T	CTSA	NM_000308.3(CTSA):c.284del:p.Pro95fs	coding	Pathogenic
20	45892776	GA	G	A45892777G	CTSA	NM_000308.4(CTSA):c.497del:p.Glu166fs	coding	Pathogenic
20	45892794	CTT	C	T45892797C	CTSA	NM_000308.3(CTSA):c.571_572del:p.Phe191fs	coding	Pathogenic
20	45894029	AG	A	G45894030T	CTSA	NM_000308.4(CTSA):c.735del:p.Lys245fs	coding	Pathogenic
20	45894703	CTA	C	A45894705G	CTSA	NM_000308.3(CTSA):c.887_888del:p.Tyr296fs	coding	Pathogenic
20	45894803	TC	T	C45894808A	CTSA	NM_000308.3(CTSA):c.924-15del	noncoding	Benign
20	45895028	A	AC	T45895036C	CTSA	NM_000308.4(CTSA):c.990dup:p.Cys331fs	coding	Pathogenic
20	45949256	AGG	A	G45949259A	ZNF335	NM_022095.4(ZNF335):c.3820-7_3820-6del	noncoding	Benign/Likely_benign
20	45952664	GTCAC	G	T45952669A	ZNF335	NM_022095.4(ZNF335):c.2740_2743GTGA[1]:p.Ser915fs	coding	Pathogenic
20	45967636	TG	T	G45967638A	ZNF335	NM_022095.4(ZNF335):c.815-3del	noncoding	Benign
20	45967790	C	CG	T45967793G	ZNF335	NM_022095.4(ZNF335):c.757dup:p.Arg253fs	coding	Pathogenic
20	46029385	G	GA	G46029387A	SLC12A5	NM_020708.5(SLC12A5):c.42dup:p.Ala15fs	coding	Pathogenic
20	46035516	GA	G	A46035522G	SLC12A5	NM_020708.5(SLC12A5):c.266del:p.Lys89fs	coding	Pathogenic
20	46040465	CTG	C	T46040470C	SLC12A5	NM_020708.5(SLC12A5):c.706_707TG[2]:p.Val237fs	coding	Pathogenic
20	46041453	C	CT	C46041455T	SLC12A5	NM_020708.5(SLC12A5):c.980dup:p.Asn328fs	coding	Pathogenic
20	46051730	TCTC	T	T46051735A	SLC12A5	NM_020708.5(SLC12A5):c.2239_2241TCC[1]:p.Ser748del	coding	Pathogenic
20	46051742	T	TG	C46051744G	SLC12A5	NM_020708.5(SLC12A5):c.2250dup:p.Arg751fs	coding	Pathogenic
20	46118274	CT	C	T46118275G	CD40	NM_001250.5(CD40):c.-69del	noncoding	Benign/Likely_benign
20	46121862	CTAA	C	T46121866A	CD40	NM_001250.6(CD40):c.95_97TAA[1]:p.Ile33del	coding	Pathogenic
20	46128304	C	CT	A46128328T	CD40	NM_001250.6(CD40):c.647-3dup	noncoding	Benign
20	46367442	AG	A	G46367444T	ELMO2	NM_133171.5(ELMO2):c.2080del:p.Leu694fs	coding	Pathogenic
20	46689235	CT	C	T46689237G	TP53RK	NM_033550.4(TP53RK):c.179del:p.Lys60fs	coding	Pathogenic
20	46725519	CT	C	T46725520G	SLC2A10	NM_030777.4(SLC2A10):c.484del:p.Trp162fs	coding	Pathogenic
20	46725763	CAACT	C	T46725767A	SLC2A10	NM_030777.4(SLC2A10):c.731_734del:p.Leu244fs	coding	Pathogenic
20	46725996	CG	C	G46725997T	SLC2A10	NM_030777.4(SLC2A10):c.961del:p.Val321fs	coding	Pathogenic
20	46726314	GTTTGGGCCA	CC	G46726314C	SLC2A10	NM_030777.4(SLC2A10):c.1278_1287delinsCC:p.Phe427fs	coding	Pathogenic
20	46726907	AG	A	G46726909A	SLC2A10	NM_030777.4(SLC2A10):c.1334del:p.Gly445fs	coding	Pathogenic
20	46727166	GC	G	C46727167T	SLC2A10	NM_030777.4(SLC2A10):c.1411+181del	noncoding	Benign
20	48953604	T	TC	T48953609C	ARFGEF2	NM_006420.3(ARFGEF2):c.656dup:p.Val220fs	coding	Pathogenic
20	48972391	GA	G	A48972392T	ARFGEF2	NM_006420.3(ARFGEF2):c.1492del:p.Met498fs	coding	Pathogenic
20	48989389	CC	T	C48989389T	ARFGEF2	NM_006420.3(ARFGEF2):c.2638_2639delinsT:p.Pro880fs	coding	Pathogenic
20	49374244	GCT	G	T49374250C	KCNB1	NM_004975.4(KCNB1):c.1310_1311AG[2]:p.Arg438fs	coding	Pathogenic
20	49374581	TC	T	C49374583T	KCNB1	NM_004975.4(KCNB1):c.978del:p.Ser327fs	coding	Pathogenic
20	49374702	CA	C	A49374703C	KCNB1	NM_004975.4(KCNB1):c.857del:p.Val286fs	coding	Pathogenic
20	49374739	T	TA	G49374741A	KCNB1	NM_004975.4(KCNB1):c.820dup:p.Tyr274fs	coding	Pathogenic
20	49374899	C	AT	C49374899A	KCNB1	NM_004975.4(KCNB1):c.661delinsAT:p.Gly221fs	coding	Pathogenic
20	50891434	C	CGG	C50891437G	ADNP	NM_001282531.3(ADNP):c.3278_3279dup:p.Gly1094fs	coding	Benign
20	50891845	CCTCA	C	C50891848A	ADNP	NM_001282531.3(ADNP):c.2865_2868del:p.Ser955fs	coding	Pathogenic
20	50891905	CG	C	G50891906T	ADNP	NM_001282531.3(ADNP):c.2808del:p.Lys935_Tyr936insTer	coding	Pathogenic
20	50892214	CT	C	T50892217A	ADNP	NM_001282531.3(ADNP):c.2499del:p.Val834fs	coding	Pathogenic
20	50892214	CTT	C	T50892216A	ADNP	NM_001282531.3(ADNP):c.2498_2499del:p.Lys833fs	coding	Pathogenic
20	50892214	CTTTA	C	T50892219A	ADNP	NM_001282531.3(ADNP):c.2492_2495TAAA[1]:p.Asn832fs	coding	Pathogenic
20	50892219	TTTAA	T	A50892222C	ADNP	NM_001282531.3(ADNP):c.2491_2494del:p.Leu831fs	coding	Pathogenic
20	50892386	G	GT	G50892389T	ADNP	NM_001282531.3(ADNP):c.2327dup:p.Asn776fs	coding	Pathogenic
20	50892395	C	CT	G50892399T	ADNP	NM_001282531.3(ADNP):c.2318dup:p.Tyr774fs	coding	Pathogenic
20	50892426	GA	G	A50892428T	ADNP	NM_001282531.3(ADNP):c.2287del:p.Ser763fs	coding	Pathogenic
20	50892426	G	GA	T50892429A	ADNP	NM_001282531.3(ADNP):c.2287dup:p.Ser763fs	coding	Pathogenic
20	50892445	T	TG	T50892450G	ADNP	NM_001282531.3(ADNP):c.2268dup:p.Lys757fs	coding	Pathogenic
20	50892516	TCTAA	T	A50892519T	ADNP	NM_001282531.3(ADNP):c.2194_2197del:p.Leu732fs	coding	Pathogenic
20	50892518	TA	T	A50892520C	ADNP	NM_001282531.3(ADNP):c.2195del:p.Lys731_Leu732insTer	coding	Pathogenic
20	50892526	GT	G	T50892532C	ADNP	NM_001282531.3(ADNP):c.2187del:p.Lys729fs	coding	Pathogenic
20	50892538	AG	A	G50892541A	ADNP	NM_001282531.3(ADNP):c.2175del:p.Leu726fs	coding	Pathogenic
20	50892554	CTCG	C	C50892556A	ADNP	NM_001282531.3(ADNP):c.2157_2159del:p.Tyr719_Glu720delinsTer	coding	Pathogenic
20	50892557	G	GT	A50892559T	ADNP	NM_001282531.3(ADNP):c.2156dup:p.Tyr719Ter	coding	Pathogenic/Likely_pathogenic
20	50892776	CCT	C	T50892782G	ADNP	NM_001282531.3(ADNP):c.1932_1933AG[2]:p.Arg646fs	coding	Pathogenic
20	50892821	TAGGATTGAAAAGCAAAG	T	T50892826C	ADNP	NM_001282531.3(ADNP):c.1876_1892del:p.Leu626fs	coding	Pathogenic
20	50893060	AAT	A	A50893061C	ADNP	NM_001282531.3(ADNP):c.1652_1653del:p.Asp551fs	coding	Pathogenic
20	50893083	G	GTTTTAGGTCCC	A50893095T	ADNP	NM_001282531.3(ADNP):c.1620_1630dup:p.Thr544fs	coding	Pathogenic
20	50893426	C	CA	G50893428A	ADNP	NM_001282531.3(ADNP):c.1287dup:p.Ala430fs	coding	Pathogenic
20	50893473	TGA	T	A50893479G	ADNP	NM_001282531.3(ADNP):c.1239_1240del:p.Gln414fs	coding	Pathogenic
20	50893478	GA	G	A50893479G	ADNP	NM_001282531.3(ADNP):c.1235del:p.Leu412fs	coding	Pathogenic
20	50893490	CTT	C	T50893492A	ADNP	NM_001282531.3(ADNP):c.1222_1223del:p.Lys408fs	coding	Pathogenic
20	50893529	C	CT	G50893531T	ADNP	NM_001282531.3(ADNP):c.1184dup:p.Ser396fs	coding	Pathogenic
20	50893581	T	TA	G50893584A	ADNP	NM_001282531.3(ADNP):c.1132dup:p.Tyr378fs	coding	Pathogenic
20	50893606	GTA	ACAG	G50893606A	ADNP	NM_001282531.3(ADNP):c.1106_1108delinsCTGT:p.Leu369fs	coding	Pathogenic
20	50893772	TAA	T	A50893773G	ADNP	NM_001282531.3(ADNP):c.940_941del:p.Leu314fs	coding	Pathogenic
20	50893868	TC	T	C50893871A	ADNP	NM_001282531.3(ADNP):c.845del:p.Gly282fs	coding	Pathogenic
20	50893875	CTCT	C	C50893880G	ADNP	NM_001282531.3(ADNP):c.833_835AGA[1]:p.Lys279del	coding	Benign
20	50893894	TG	T	G50893897A	ADNP	NM_001282531.3(ADNP):c.819del:p.Lys274fs	coding	Pathogenic
20	50894171	CCTAA	C	A50894175T	ADNP	NM_001282531.3(ADNP):c.539_542del:p.Val180fs	coding	Pathogenic
20	50894289	G	GTGC	A50894295C	ADNP	NM_001282531.3(ADNP):c.422_424dup:p.Ser141dup	coding	Benign/Likely_benign
20	50894373	AAGGT	A	G50894375C	ADNP	NM_001282531.3(ADNP):c.337_340del:p.Thr113fs	coding	Pathogenic
20	50894382	TA	T	A50894383G	ADNP	NM_001282531.3(ADNP):c.331del:p.Tyr111fs	coding	Pathogenic
20	50894383	A	AG	C50894388G	ADNP	NM_001282531.3(ADNP):c.330dup:p.Tyr111fs	coding	Pathogenic
20	50902027	G	GT	A50902029T	ADNP	NM_001282531.3(ADNP):c.190dup:p.Thr64fs	coding	Pathogenic
20	50902039	T	TCC	A50902043C	ADNP	NM_001282531.3(ADNP):c.177_178dup:p.Asp60fs	coding	Pathogenic
20	50903926	CTAAG	C	A50903929T	ADNP	NM_001282531.3(ADNP):c.67_70del:p.Leu23fs	coding	Pathogenic
20	50903926	CT	C	T50903927A	ADNP	NM_001282531.3(ADNP):c.70del:p.Ser24fs	coding	Pathogenic
20	50903939	TCA	T	C50903942G	ADNP	NM_001282531.3(ADNP):c.54_55TG[1]:p.Val19fs	coding	Pathogenic
20	50903939	T	TC	A50903941C	ADNP	NM_001282531.3(ADNP):c.57dup:p.Lys20fs	coding	Pathogenic
20	50935242	T	TAAA	T50935243A	DPM1	NM_003859.2(DPM1):c.679-7_679-6insTTT	noncoding	Benign
20	50935242	T	TAA	T50935243A	DPM1	NM_003859.2(DPM1):c.679-7_679-6insTT	noncoding	Benign/Likely_benign
20	50935242	T	TA	T50935243A	DPM1	NM_003859.2(DPM1):c.679-7_679-6insT	noncoding	Benign/Likely_benign
20	50935243	T	TA	G50935256A	DPM1	NM_003859.2(DPM1):c.679-19dup	noncoding	Benign
20	50936197	TG	T	G50936199A	DPM1	NM_003859.2(DPM1):c.628del:p.Gln210fs	coding	Pathogenic
20	50942031	CTGAT	C	G50942033A	DPM1	NM_003859.3(DPM1):c.490_493del:p.Ile164fs	coding	Pathogenic
20	50945875	ATGATGTAGTTTCC	A	A50945878T	DPM1	NM_003859.2(DPM1):c.331_343del:p.Gly111fs	coding	Pathogenic
20	51788995	GT	G	T51788997G	SALL4	NM_020436.5(SALL4):c.2607del:p.Gln869fs	coding	Pathogenic
20	51790057	GC	G	C51790058T	SALL4	NM_020436.5(SALL4):c.2425del:p.Ala809fs	coding	Pathogenic
20	51790423	ACAT	A	C51790430G	SALL4	NM_020436.5(SALL4):c.2051_2053ATG[2]:p.Asp686del	coding	Benign
20	51790578	GA	G	A51790580C	SALL4	NM_020436.5(SALL4):c.1904del:p.Phe635fs	coding	Pathogenic
20	51791107	AG	A	G51791108T	SALL4	NM_020436.5(SALL4):c.1375del:p.Leu459fs	coding	Pathogenic
20	51791161	AGCTGGGGGTTT	A	T51791164C	SALL4	NM_020436.5(SALL4):c.1311_1321del:p.Asn438fs	coding	Pathogenic
20	51791250	CA	C	A51791251C	SALL4	NM_020436.5(SALL4):c.1232del:p.Val411fs	coding	Pathogenic
20	51791428	GC	G	C51791430A	SALL4	NM_020436.5(SALL4):c.1054del:p.Ala352fs	coding	Pathogenic
20	51791541	A	AG	T51791543G	SALL4	NM_020436.5(SALL4):c.941dup:p.Leu315fs	coding	Pathogenic
20	51791655	G	GC	T51791657C	SALL4	NM_020436.5(SALL4):c.827dup:p.Ser276fs	coding	Pathogenic
20	51791919	GC	G	C51791923G	SALL4	NM_020436.5(SALL4):c.563del:p.Gly188fs	coding	Pathogenic
20	51791960	TGCCTTTG	T	C51791963T	SALL4	NM_020436.5(SALL4):c.516_522del:p.Gly174fs	coding	Pathogenic
20	51791986	T	TG	T51791993G	SALL4	NM_020436.5(SALL4):c.496dup:p.Gln166fs	coding	Pathogenic
20	51792072	G	GC	A51792075C	SALL4	NM_020436.5(SALL4):c.410dup:p.Gly138fs	coding	Pathogenic
20	51792156	AG	A	G51792158C	SALL4	NM_020436.5(SALL4):c.326del:p.Pro109fs	coding	Pathogenic
20	54153515	C	CAT	G54153516A	CYP24A1	NM_000782.5(CYP24A1):c.*1256_*1257insAT	noncoding	Benign
20	54157394	AAG	A	A54157397C	CYP24A1	NM_000782.5(CYP24A1):c.1424_1425CT[1]:p.Cys477fs	coding	Pathogenic
20	57228382	TG	T	G57228384T	BMP7	NM_001719.3(BMP7):c.457del:p.His153fs	coding	Pathogenic
20	58447656	GTGTGTGCA	G	C58447679G	VAPB	NM_004738.5(VAPB):c.*3428_*3435CATGTGTG[2]	noncoding	Benign
20	58668510	TAAATATTAAATTTGATTAATTTTAAAATAATAGGACTAGTGTTGAAACCTCAGTGTTTACATTTTTTACTGAAGTCTCCTGGGTGCTAATTATCAGAGGAGTGTGGTGCTTTGAGAAAAGCCCTGGGGGGTTGGAATGTTGGAACCCTGGCTCTTAGCAGTTTAACAGTTACACGATTCTCATTTAATCCCTCTGACTCTAGTGTTCTCATCTGTAAAATGGGACTAATAATCATAGTACCATCCTCATAGGATGCTTGTTAGGGATTAAATGAGAGGAATGCAATAATAATATGATATATGATAATACAGGTTGAACATTCCTAATCTGAAATCCAAAATGCTCCAAAATTTGAAACTTTCTTTTGAGTGCCAATATGACACTCAAAGGAATGCTCATTGGAGCATTTTGGATTTCGAATTTTCAGATTGGGGTACTCAACTAGTAGGTATTCTGCAAATATTCCAAAATCTCCCGAAATTTGAAATCCTAAACATTGCCAATCCCAAGCATTTCGGATGAGGGATACTCAGCCTGTCTAACGTGATGATATGTGAGCAGCTGGGCACACAGCAGGCCCTACATAGCAGGAGCTGAAATCTAGTGAAATCTTTCTGTGTATATAAATGAAGCCACAGATTCCTTTTATCTGTTCACCTTTCTCTAAACCAGACTGAGTGAACAGAGCCTCTCACTTCTCACTCTGGCTTGTGATGTGGCAGTGTTAGCAGAGGGGCTTCTCTCCCAGGCTTGCCCTGAGCCTCGGGCTTGTTCTCTTAGCTCTTCCACAGGTGCCAGCGTGCCGTGCAGGCCCTGCCGAGCCGGGCCCGGGCCTGCTCCGAGCAGGAGGGGCGGCTGCTTGGGAACGTGGTGGCCTCGCTGGCGCAGGCCCTGCAGGAACTCTCCACCAGCTTCCGGCACGCACAGTCAGGCTACCTCAAACGTGAGTGCTGCCCGGGCCTAGTGAAGGGATTTTGAGTAAGAAAAGCACTTTATGTTTTCTTTTTTGCCACTATTTTTTCATTTAGTCCAGTACCTTTCATTGTTAGCTTTTGAACATGCTCATACCTTGTACAGTAAAGGGAAGCCTCCTCCCCATGTGAAACCCTGGCTTGGAATGAAGGCACAGCGTGGGGTACCGACCAAGGCTGGGGGAGGGCACCAAGATAGTTCAGCATCTCAGCAAACAAAATTTGTTTTGTGTCAAGCTGCAAGAATTTGAAAATCAACCAAGCACATTTTAAAAACCTGTTGTTTTCTGGATGTTGGGGTTTGGGAGAGCTGCTCTTCAATAGGTAAAAAGCAGTTGTTATTACTGAAAGCCACATATTTGCATAACAACCAAAGTGTTTGAGAGCACCTGAGAAAACCTCCCCAGGGTCCTTGAAACACTTCCTCTGCTGGCACCACAGGTTTCACCCAGCAGACCTTTTCTTCCCAAATAGTGCAAAGCCAGATTTCAGCTCTCTTCTCATTCTAATCACCCTGTAAACTGGGTTTTTTAAAATTGCCCTTGCAATCAATAAAGTCCCCACATACTCCAAAAAACCTAGTTCTCCCTCCCTCTGACAACTGGCATATTTGTATTTTAATTTTATTATTTCCAAAATTTGATTAGGGCCATATGGAATTCATACTAGAGATGCTTCTAGAGAGAAATACTGATTTTTTAAAATGTTTTGTAACAGCAGTTAGATTAAATATTTCTGCTTCACTTAGAGATTCTCAGATGGTTGTGTCATTTTTATCTTGGCATCAAGTGAATTGTGCACATTTACACTGTGACTTTTGTCTTGAGTAATCCCAAATGCCTGCATATTGTTGTATGTTTGTAATCCTTTACTCTCCCTCCACCCCCATTGGAGATAGGCTTCTTTAAAGCGGCTAAGAATATCTCAATTTTGACTGTTGGAGTTTACTCTAGAATTCCCCCTTTTAATGGTAGAACAATACTCAGGATGGTTTACATATTCAAGTAAAATGAATTCCTATCTGTGATAGGCATGAAGAATCGAGAGGAAAGATCCCAGCATTTTTTCGACACATCAGTACCACTAATGGATGATGGAGACGATAACACTCTTTACCATCGGGTACGTGAACGGGCTGCAAAGCTGATTGCTGTGTCTGTGCACCCCATTCTGCATCTTTCACCTCCTAGACCTCGATCTTCTGTGCAGTGTCAGTGGATTGATACAGTTGACTTGTATATTCATCAGGTTGTTTTGCAGCAGGTGGAAGAACAGCCGTACTGTTTCTTCCTTTCCAAAGGCCACAGGGAGACCTTGTAATCTGCTTTCCAGAGCCTTTGGGAAAGTGGTCAACACCCTGCCTTCTTAGGAAGAGCCCAGAGAAACAGAGGGCTATCCCGGGGGTTTTGTTTATCTGCCCTTGTGGAGTTGGCAGACGTGGGCTTCTGTCTTCCCTGCTATGGCCTCAGAGCTTTAGATCCTGCTGGTTTAGGGAATTTGAATCTTTCCTGTTAGGGAAAAATGAGTGCTTACTGTGCTTTGTAGAAATATTTTCAGAATTCATTTTCTTTAAATTATTTTCATTGTCTTTAAATTATATCTAAACAAGTATACCATAGCTTTCCTGAGAGGGAAAACAATCTATCCAACACATTGTGCACTGTCTTGCTAGGGTTTTACAGAGGACCAGTTAGTTCTGGTGGAGCAGAACACACTGATGGTGGAAGAGCGGGAACGAGAGATTCGCCAGATTGTACAGTCCATTTCTGACCTGAATGAAATATTCAGGGACTTAGGGGCGATGATTGTAGAACAGGTACGTGAGCTGGCCTTCCTCGTGAATAGGTTTTCCTGCCATACTATCTGTACCTTCTTTTTCCTGTACTCCTTTCAGGGAAAAAAATTGGAGCCAATTTTCCCAACATGTGTGTGCACCTGTCCTTTATGTGTGTGTGGGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTATATTAATATTAATC	T	C58668684T	STX16	NM_001001433.3(STX16):c.393+557_792+364del	noncoding	Pathogenic
20	58679462	CTT	C	T58679466G	STX16	NM_001001433.3(STX16):c.*3175_*3176del	noncoding	Benign
20	58840368	C	CA	C58840370A	GNAS	NM_016592.4(GNAS):c.263dup:p.His88fs	coding	Pathogenic
20	58889222	C	CCGGCG	T58889234G	GNAS	NM_016592.4(GNAS):c.*43-6389CGGCG[3]	coding	Benign
20	58891722	CCGCCAT	C	C58891723G	GNAS	NM_000516.6(GNAS):c.-4_2del:p.Met1del	coding	Pathogenic
20	58891852	C	CCTG	G58891865C	GNAS	NM_016592.4(GNAS):c.43-3759CTG[5]	coding	Pathogenic
20	58903568	CT	C	T58903569G	GNAS	NM_001077488.5(GNAS):c.299del:p.Leu100fs	coding	Pathogenic
20	58903701	G	GC	G58903708C	GNAS	NM_016592.4(GNAS):c.*254dup	coding	Pathogenic
20	58909191	AG	A	G58909193C	GNAS	NM_001077488.5(GNAS):c.565del:p.Ala189fs	coding	Pathogenic
20	58909193	GCTGA	G	G58909196A	GNAS	NM_016592.4(GNAS):c.*471_*474del	coding	Pathogenic
20	58909689	AC	A	C58909690T	GNAS	NM_016592.4(GNAS):c.*631del	coding	Pathogenic
20	58909737	CG	GC	C58909737G	GNAS	NM_016592.4(GNAS):c.*678_*679delinsGC	coding	Pathogenic
20	58909765	A	AGG	A58909768G	GNAS	NM_016592.4(GNAS):c.*707_*708dup	coding	Pathogenic
20	58910736	CT	C	T58910737G	GNAS	NM_016592.4(GNAS):c.*999del	coding	Pathogenic
20	59019556	TG	T	G59019557T	TUBB1	NM_030773.3(TUBB1):c.35del:p.Cys12fs	coding	Pathogenic
20	59301619	GC	T	G59301619T	EDN3	NM_207034.3(EDN3):c.262_263delinsT:p.Ala88fs	coding	Pathogenic
20	59322388	G	GA	C59322395A	EDN3	NM_207034.3(EDN3):c.565dup:p.Thr189fs	coding	Benign/Likely_benign
20	62165414	TC	T	C62165415G	SS18L1	NM_198935.3(SS18L1):c.824-7del	noncoding	Benign
20	62260083	CTG	C	T62260084G	OSBPL2	NM_001278649.2(OSBPL2):c.-184-3532_-184-3531del	coding	Pathogenic
20	62260095	CCT	C	T62260099A	OSBPL2	NM_001278649.2(OSBPL2):c.-184-3517_-184-3516del	coding	Pathogenic
20	62260100	CAA	C	A62260101G	OSBPL2	NM_144498.4(OSBPL2):c.158_159del:p.Gln53fs	coding	Pathogenic
20	62260119	AAC	A	C62260123G	OSBPL2	NM_144498.4(OSBPL2):c.180_181del:p.His60fs	coding	Pathogenic
20	62291699	CT	C	T62291700A	OSBPL2	NM_144498.4(OSBPL2):c.1250-3del	noncoding	Benign
20	62322651	GC	G	C62322654T	LAMA5	NM_005560.6(LAMA5):c.6165+6del	noncoding	Benign
20	62367030	GCCGCGCGCC	G	C62367031G	LAMA5	NM_005560.6(LAMA5):c.207_215del:p.Ala70_Gly72del	coding	Benign
20	62817577	TCCCCGGCCC	T	C62817590A	COL9A3	NM_001853.4(COL9A3):c.93_101CGGCCCCCC[1]:p.33_35PPG[2]	coding	Benign
20	62832326	CAGTCGCCCTTT	C	A62832327C	COL9A3	NM_001853.4(COL9A3):c.1323+138_1323+148del	noncoding	Benign
20	63350538	G	GAGC	G63350547C	CHRNA4	NM_000744.7(CHRNA4):c.867_869GCT[3]:p.Leu291dup	coding	Pathogenic
20	63351161	A	ACCCACGTCCCACGCCCACATCCACACCCATGCCCACG	T63351162C	CHRNA4	NM_000744.6(CHRNA4):c.384-135_384-134insCGTGGGCATGGGTGTGGATGTGGGCGTGGGACGTGGG	noncoding	Benign
20	63351168	T	TC	A63351171C	CHRNA4	NM_000744.6(CHRNA4):c.384-143dup	noncoding	Benign
20	63351198	A	AGCCACGCCCACGCCCCACG	T63351199G	CHRNA4	NM_000744.6(CHRNA4):c.384-172_384-171insCGTGGGGCGTGGGCGTGGC	noncoding	Benign
20	63406653	G	GGGCCC	A63406664G	KCNQ2	NM_172107.4(KCNQ2):c.2600_2604GGGCC[3]:p.Arg871fs	coding	Pathogenic
20	63406665	GC	G	C63406668A	KCNQ2	NM_172107.4(KCNQ2):c.2597del:p.Gly866fs	coding	Pathogenic
20	63406707	CG	C	G63406712C	KCNQ2	NM_172107.4(KCNQ2):c.2555del:p.Pro852fs	coding	Pathogenic
20	63406837	TG	T	G63406840A	KCNQ2	NM_172107.4(KCNQ2):c.2425del:p.Gln809fs	coding	Pathogenic
20	63406861	GA	G	A63406863C	KCNQ2	NM_172107.4(KCNQ2):c.2401del:p.Ser801fs	coding	Pathogenic
20	63406871	GCTCCTCGTGGTCCA	G	T63406873G	KCNQ2	NM_172107.4(KCNQ2):c.2378_2391del:p.Val793fs	coding	Pathogenic
20	63406901	T	TG	A63406904G	KCNQ2	NM_172107.4(KCNQ2):c.2361dup:p.Ile788fs	coding	Pathogenic
20	63406936	GG	T	G63406936T	KCNQ2	NM_172107.4(KCNQ2):c.2326_2327delinsA:p.Pro776fs	coding	Pathogenic
20	63406944	G	GC	G63406948C	KCNQ2	NM_172107.4(KCNQ2):c.2318dup:p.Cys774fs	coding	Pathogenic
20	63406966	AG	A	G63406968A	KCNQ2	NM_172107.4(KCNQ2):c.2296del:p.Leu766fs	coding	Pathogenic
20	63406986	G	GT	G63406989T	KCNQ2	NM_172107.4(KCNQ2):c.2276dup:p.Asn759fs	coding	Pathogenic
20	63407135	CA	C	A63407136G	KCNQ2	NM_172107.4(KCNQ2):c.2127del:p.Val710fs	coding	Pathogenic
20	63407135	CAG	C	A63407136G	KCNQ2	NM_172107.4(KCNQ2):c.2126_2127del:p.Pro709fs	coding	Pathogenic
20	63407136	A	AG	C63407142G	KCNQ2	NM_172107.4(KCNQ2):c.2126dup:p.Val710fs	coding	Pathogenic
20	63407148	CG	C	G63407153C	KCNQ2	NM_172107.4(KCNQ2):c.2114del:p.Pro705fs	coding	Pathogenic
20	63407177	TG	T	G63407179A	KCNQ2	NM_172107.4(KCNQ2):c.2085del:p.Thr696fs	coding	Pathogenic
20	63407194	AC	A	C63407195G	KCNQ2	NM_172107.4(KCNQ2):c.2068del:p.Val690fs	coding	Pathogenic
20	63407213	CGT	C	T63407215C	KCNQ2	NM_172107.4(KCNQ2):c.2048_2049del:p.His683fs	coding	Pathogenic
20	63407247	GC	G	C63407248T	KCNQ2	NM_172107.4(KCNQ2):c.2015del:p.Ser672fs	coding	Pathogenic
20	63407306	TC	T	C63407307G	KCNQ2	NM_172107.4(KCNQ2):c.1956del:p.Thr653fs	coding	Pathogenic
20	63407306	T	TC	G63407308C	KCNQ2	NM_172107.4(KCNQ2):c.1956dup:p.Thr653fs	coding	Pathogenic
20	63407332	TA	T	A63407333G	KCNQ2	NM_172107.4(KCNQ2):c.1930del:p.Tyr644fs	coding	Pathogenic
20	63407332	T	TA	G63407334A	KCNQ2	NM_172107.4(KCNQ2):c.1930dup:p.Tyr644fs	coding	Pathogenic
20	63407374	AC	A	C63407376T	KCNQ2	NM_172107.4(KCNQ2):c.1888del:p.Val630Serfs	coding	Pathogenic
20	63408413	CTGCTTCTCCACCTTCCCGAGCCGTCCCATCA	C	T63408418G	KCNQ2	NM_172107.4(KCNQ2):c.1856_1886del:p.Met619fs	coding	Pathogenic
20	63408427	TC	T	C63408430G	KCNQ2	NM_172107.4(KCNQ2):c.1872del:p.Lys625fs	coding	Pathogenic
20	63408479	GC	G	C63408482T	KCNQ2	NM_172107.4(KCNQ2):c.1820del:p.Gly607fs	coding	Pathogenic
20	63413478	GC	TT	G63413478T	KCNQ2	NM_172107.4(KCNQ2):c.1734_1735delinsAA:p.Met578_Leu579delinsIleMet	coding	Pathogenic
20	63413503	CT	C	T63413504G	KCNQ2	NM_172107.4(KCNQ2):c.1709del:p.Gln570fs	coding	Pathogenic
20	63413528	T	TAGGGC	C63413534A	KCNQ2	NM_172107.4(KCNQ2):c.1680_1684dup:p.Tyr562fs	coding	Pathogenic
20	63413532	G	GC	G63413535C	KCNQ2	NM_172107.4(KCNQ2):c.1680dup:p.Pro561fs	coding	Pathogenic
20	63414103	CTGACTT	C	C63414107G	KCNQ2	NM_172107.4(KCNQ2):c.1610_1615del:p.Lys537_Val538del	coding	Pathogenic
20	63414114	G	GC	G63414118C	KCNQ2	NM_172107.4(KCNQ2):c.1604dup:p.Leu536fs	coding	Pathogenic
20	63414134	TCA	T	C63414137A	KCNQ2	NM_172107.4(KCNQ2):c.1581_1582TG[1]:p.Val528fs	coding	Pathogenic
20	63414137	CAAACTCGCAGGGG	C	A63414138C	KCNQ2	NM_172107.4(KCNQ2):c.1569_1581del:p.Cys523fs	coding	Pathogenic
20	63414190	GC	G	C63414191T	KCNQ2	NM_172107.4(KCNQ2):c.1528del:p.Ala510fs	coding	Pathogenic
20	63414975	T	TC	A63414978C	KCNQ2	NM_172107.4(KCNQ2):c.1452dup:p.Ser485fs	coding	Pathogenic
20	63414994	GCTGGGGCTGT	G	T63414996C	KCNQ2	NM_172107.4(KCNQ2):c.1424_1433del:p.Asp475fs	coding	Pathogenic
20	63415008	CGA	C	A63415010G	KCNQ2	NM_172107.4(KCNQ2):c.1418_1419del:p.Leu473fs	coding	Pathogenic
20	63415038	TCA	T	C63415041G	KCNQ2	NM_172107.4(KCNQ2):c.1386_1387TG[1]:p.Val463fs	coding	Pathogenic
20	63415054	CGGGGACCCCTTCCCCTT	C	G63415057C	KCNQ2	NM_172107.4(KCNQ2):c.1357_1373del:p.Lys453fs	coding	Pathogenic
20	63415071	T	TG	C63415074G	KCNQ2	NM_172107.4(KCNQ2):c.1356dup:p.Lys453fs	coding	Pathogenic
20	63415143	C	CAACAGACA	G63415144A	KCNQ2	NM_172107.4(KCNQ2):c.1302-18_1302-17insTGTCTGTT	noncoding	Benign
20	63415143	C	CGAAAGACA	C63415146A	KCNQ2	NM_172107.4(KCNQ2):c.1302-18_1302-17insTCTGTCTT	noncoding	Benign
20	63415143	C	CGACAGACA	A63415158C	KCNQ2	NM_172107.4(KCNQ2):c.1302-29TGTC[5]	noncoding	Benign
20	63415143	C	CGACAGACG	A63415151G	KCNQ2	NM_172107.3(KCNQ2):c.1302-18_1302-17insCGTCTGTC	noncoding	Benign
20	63415143	C	CGACAGGCA	A63415149G	KCNQ2	NM_172107.3(KCNQ2):c.1302-18_1302-17insTGCCTGTC	noncoding	Benign
20	63415143	C	CGACGGACA	A63415147G	KCNQ2	NM_172107.3(KCNQ2):c.1302-18_1302-17insTGTCCGTC	noncoding	Benign
20	63415143	C	CGAGAGACA	C63415146G	KCNQ2	NM_172107.4(KCNQ2):c.1302-18_1302-17insTCTGTCTC	noncoding	Benign
20	63415143	C	CGGCAGACA	A63415145G	KCNQ2	NM_172107.3(KCNQ2):c.1302-18_1302-17insTGTCTGCC	noncoding	Benign
20	63415143	C	CGTCAGACA	A63415145T	KCNQ2	NM_172107.4(KCNQ2):c.1302-18_1302-17insCTGTCTGA	noncoding	Benign
20	63415145	A	ACAGACAGG	A63415153G	KCNQ2	NM_172107.4(KCNQ2):c.1302-20_1302-19insCTGTCTGC	noncoding	Benign
20	63424190	CCGG	C	C63424194G	KCNQ2	NM_172107.4(KCNQ2):c.1228_1230CCG[1]:p.Pro411del	coding	Pathogenic
20	63424194	C	CG	T63424201G	KCNQ2	NM_172107.4(KCNQ2):c.1229dup:p.Pro411fs	coding	Pathogenic
20	63424194	CG	C	G63424200T	KCNQ2	NM_172107.4(KCNQ2):c.1229del:p.Pro410fs	coding	Pathogenic
20	63428386	TA	T	A63428387C	KCNQ2	NM_172107.4(KCNQ2):c.1197del:p.Ser399fs	coding	Pathogenic
20	63428387	ACT	A	C63428390T	KCNQ2	NM_172107.4(KCNQ2):c.1193_1194AG[1]:p.Lys398_Ser399insTer	coding	Pathogenic
20	63428390	CTT	C	T63428391G	KCNQ2	NM_172107.4(KCNQ2):c.1192_1193del:p.Lys398fs	coding	Pathogenic
20	63428423	CG	C	G63428429A	KCNQ2	NM_172107.4(KCNQ2):c.1160del:p.Pro387fs	coding	Pathogenic
20	63431346	G	GC	G63431351C	KCNQ2	NM_172107.4(KCNQ2):c.1141dup:p.Ala381fs	coding	Pathogenic
20	63431361	GT	G	T63431364G	KCNQ2	NM_172107.4(KCNQ2):c.1126del:p.Thr376fs	coding	Pathogenic
20	63433809	C	CT	G63433811T	KCNQ2	NM_172107.4(KCNQ2):c.1117dup:p.Ser373fs	coding	Pathogenic
20	63433822	CG	C	G63433824T	KCNQ2	NM_172107.4(KCNQ2):c.1104del:p.Val369fs	coding	Pathogenic
20	63433843	ACTGC	A	T63433845A	KCNQ2	NM_172107.4(KCNQ2):c.1080_1083del:p.Trp360fs	coding	Pathogenic
20	63438654	T	TCTTCTCAAAGTGCTTCTGCCTGTGCTGCTCCTGAAC	A63438695T	KCNQ2	NM_172107.4(KCNQ2):c.958_993dup:p.Val320_Lys331dup	coding	Pathogenic
20	63438655	CT	C	T63438657C	KCNQ2	NM_172107.4(KCNQ2):c.992del:p.Lys331fs	coding	Pathogenic
20	63438663	AGTGC	CCTGCTGCCGGG	A63438663C	KCNQ2	NM_172107.4(KCNQ2):c.981_985delinsCCCGGCAGCAGG:p.Lys327fs	coding	Pathogenic
20	63438708	A	AC	A63438713C	KCNQ2	NM_172107.4(KCNQ2):c.939dup:p.Ser314fs	coding	Pathogenic
20	63439676	CT	C	T63439678G	KCNQ2	NM_172107.4(KCNQ2):c.848del:p.Lys283fs	coding	Pathogenic
20	63439677	T	TAC	T63439678A	KCNQ2	NM_172107.4(KCNQ2):c.847_848insGT:p.Lys283fs	coding	Pathogenic
20	63439679	GT	G	T63439680C	KCNQ2	NM_172107.4(KCNQ2):c.845del:p.Asp282fs	coding	Pathogenic
20	63442427	C	CGGAT	C63442429G	KCNQ2	NM_172107.4(KCNQ2):c.794_795insATCC:p.Asp266fs	coding	Pathogenic
20	63442434	G	GTGTCA	A63442440T	KCNQ2	NM_172107.4(KCNQ2):c.783_787dup:p.Thr263fs	coding	Pathogenic
20	63442440	A	AAG	T63442443A	KCNQ2	NM_172107.4(KCNQ2):c.780_781dup:p.Phe261fs	coding	Pathogenic
20	63442497	CAAAG	C	A63442498G	KCNQ2	NM_172107.4(KCNQ2):c.721_724del:p.Leu241fs	coding	Pathogenic
20	63442523	G	GGGT	A63442524G	KCNQ2	NM_172107.4(KCNQ2):c.698_699insACC:p.Thr234_Ala235insPro	coding	Pathogenic
20	63444661	TG	T	G63444662C	KCNQ2	NM_172107.4(KCNQ2):c.687del:p.Ser229fs	coding	Pathogenic
20	63444679	CAG	C	A63444682C	KCNQ2	NM_172107.4(KCNQ2):c.666_667CT[1]:p.Ser223fs	coding	Pathogenic
20	63444698	GGT	G	T63444700C	KCNQ2	NM_172107.4(KCNQ2):c.649_650del:p.Thr217fs	coding	Pathogenic
20	63444724	TC	T	C63444725A	KCNQ2	NM_172107.4(KCNQ2):c.624del:p.Met208fs	coding	Pathogenic
20	63444755	CCG	T	C63444755T	KCNQ2	NM_172107.4(KCNQ2):c.592_594delinsA:p.Arg198fs	coding	Pathogenic
20	63444756	CGGAGCGCAG	T	C63444756T	KCNQ2	NM_172107.4(KCNQ2):c.584_593delinsA:p.Ser195_Arg198delinsTer	coding	Pathogenic
20	63444763	C	CA	G63444765A	KCNQ2	NM_172107.4(KCNQ2):c.585dup:p.Ala196fs	coding	Pathogenic
20	63444830	G	GA	T63444832A	KCNQ2	NM_172107.4(KCNQ2):c.518dup:p.Met174fs	coding	Pathogenic
20	63445227	CCAGGCCTCACCAATCACA	C	G63445231A	KCNQ2	NM_172107.4(KCNQ2):c.507_514+10del	noncoding	Pathogenic
20	63445274	GC	G	C63445279T	KCNQ2	NM_172107.4(KCNQ2):c.477del:p.Arg160fs	coding	Pathogenic
20	63445312	GC	G	C63445315A	KCNQ2	NM_172107.4(KCNQ2):c.439del:p.Ala147fs	coding	Pathogenic
20	63445362	TTCC	T	C63445364G	KCNQ2	NM_172107.4(KCNQ2):c.388-1_389del	coding	Pathogenic
20	63445658	C	CTG	G63445661T	KCNQ2	NM_172107.4(KCNQ2):c.388-296_388-295dup	noncoding	Benign
20	63445682	TA	T	A63445683G	KCNQ2	NM_172107.4(KCNQ2):c.388-319del	noncoding	Benign
20	63446785	CCTT	C	C63446786G	KCNQ2	NM_172107.4(KCNQ2):c.346_348del:p.Lys116del	coding	Pathogenic
20	63446799	AAC	A	C63446803G	KCNQ2	NM_172107.4(KCNQ2):c.331_332GT[1]:p.Ser113fs	coding	Pathogenic
20	63446801	CACAG	C	A63446806C	KCNQ2	NM_172107.4(KCNQ2):c.325_328CTGT[1]:p.Ser110fs	coding	Pathogenic
20	63446817	CAGG	C	G63446820A	KCNQ2	NM_172107.2(KCNQ2):c.314_316delCCT:p.Ser105del	coding	Pathogenic
20	63446836	AC	A	C63446838T	KCNQ2	NM_172107.2(KCNQ2):c.297delG:p.Phe100Serfs	coding	Pathogenic
20	63472177	T	TG	T63472180G	KCNQ2	NM_172107.4(KCNQ2):c.286dup:p.His96fs	coding	Pathogenic
20	63472189	G	GC	A63472193C	KCNQ2	NM_172107.4(KCNQ2):c.274dup:p.Ala92fs	coding	Pathogenic
20	63472231	TG	T	G63472232C	KCNQ2	NM_172107.4(KCNQ2):c.232del:p.Gln78fs	coding	Pathogenic
20	63472259	TG	T	G63472265C	KCNQ2	NM_172107.4(KCNQ2):c.204del:p.Lys69fs	coding	Pathogenic
20	63472259	T	TG	C63472266G	KCNQ2	NM_172107.4(KCNQ2):c.204dup:p.Lys69fs	coding	Pathogenic
20	63472266	CT	C	T63472268C	KCNQ2	NM_172107.4(KCNQ2):c.197del:p.Lys66fs	coding	Pathogenic
20	63472319	TG	T	G63472324C	KCNQ2	NM_172107.4(KCNQ2):c.144del:p.Lys49fs	coding	Pathogenic
20	63472357	CG	C	G63472360T	KCNQ2	NM_172107.4(KCNQ2):c.106del:p.Arg36fs	coding	Pathogenic
20	63472361	TG	T	G63472363A	KCNQ2	NM_172107.4(KCNQ2):c.102del:p.Thr35fs	coding	Pathogenic
20	63472395	GCCCA	G	C63472398T	KCNQ2	NM_172107.4(KCNQ2):c.65_68del:p.Val22fs	coding	Pathogenic
20	63488434	C	CG	C63488441G	EEF1A2	NM_001958.5(EEF1A2):c.1265-15dup	noncoding	Benign
20	63489372	A	AAGGGGC	C63489387G	EEF1A2	NM_001958.4(EEF1A2):c.1030-232GCCCCT[3]	noncoding	Benign
20	63666065	CG	C	G63666067A	RTEL1	NM_001283010.1(RTEL1):c.-68del	coding	Pathogenic
20	63678184	G	GT	A63678186T	RTEL1	NM_016434.3(RTEL1):c.958+2dup	noncoding	Pathogenic
20	63678308	GCTGCCTGGAGACGA	G	T63678310A	RTEL1	NM_016434.3(RTEL1):c.1001_1014del:p.Leu334fs	coding	Pathogenic
20	63685513	TG	T	G63685514C	RTEL1	NM_001283009.1(RTEL1):c.1192-9del	noncoding	Benign
20	63690161	GCCATGTCAT	G	A63690164G	RTEL1	NM_016434.3(RTEL1):c.2219_2227del:p.His740_Ile742del	coding	Pathogenic
20	63690167	TC	T	C63690168A	RTEL1	NM_001283009.2(RTEL1):c.2223del:p.Ile742fs	coding	Pathogenic
20	63690337	GAGA	G	A63690341T	RTEL1	NM_016434.3(RTEL1):c.2310_2312AGA[1]:p.Glu771del	coding	Benign/Likely_benign
20	63692936	CG	TA	C63692936T	RTEL1	NM_001283009.2(RTEL1):c.2784_2785delinsTA:p.Ala929Thr	coding	Benign
20	63692959	GC	G	C63692964T	RTEL1	NM_016434.3(RTEL1):c.2812del:p.Leu938fs	coding	Pathogenic/Likely_pathogenic
20	63693000	CA	C	A63693002G	RTEL1	NM_001283009.2(RTEL1):c.2850del:p.Gly951fs	coding	Pathogenic
20	63693220	GGCTATCGGCCTGA	G	T63693223A	RTEL1	NM_001283009.2(RTEL1):c.2932_2944del:p.Tyr978fs	coding	Pathogenic
20	63694361	CTCT	C	T63694364A	RTEL1	NM_001283009.2(RTEL1):c.2993-8_2993-6del	noncoding	Benign
20	63694918	TG	T	G63694920C	RTEL1	NM_001283009.2(RTEL1):c.3289del:p.Ala1097fs	coding	Pathogenic
20	63695090	AC	A	C63695092A	RTEL1	NM_032957.4(RTEL1):c.3442del:p.His1148fs	coding	Pathogenic
20	63895194	T	TGCC	C63895216G	DNAJC5	NM_025219.3(DNAJC5):c.-140_-138GCC[8]	noncoding	Benign
20	63930870	GCCT	G	C63930875A	DNAJC5	NM_025219.3(DNAJC5):c.343_345CTC[1]:p.Leu116del	coding	Pathogenic
20	63930887	T	TACTGCTGCTGCTGTCTGTGCTGCTGCTTCA	G63930929T	DNAJC5	NM_025219.3(DNAJC5):c.370_399dup:p.Cys124_Cys133dup	coding	Pathogenic
20	63940064	A	AG	T63940077G	UCKL1	NM_017859.4(UCKL1):c.1568-21dup	noncoding	Benign
20	63940064	AG	A	G63940076T	UCKL1	NM_017859.4(UCKL1):c.1568-10del	noncoding	Benign
20	63940064	AGG	A	G63940075T	UCKL1	NM_017859.4(UCKL1):c.1568-11_1568-10del	noncoding	Benign
20	63940064	AGGG	A	G63940074T	UCKL1	NM_017859.4(UCKL1):c.1568-12_1568-10del	noncoding	Benign
20	63999766	TATTTCCTGGGAGGC	T	A63999767G	PRPF6	NM_012469.4(PRPF6):c.1023+8_1023+21del	noncoding	Benign
20	64028573	AG	A	G64028578T	PRPF6	NM_012469.4(PRPF6):c.2431+9del	noncoding	Benign/Likely_benign
20	64032986	CCTT	C	T64032989G	PRPF6	NM_012469.4(PRPF6):c.2822_2824del:p.Phe941del	coding	Pathogenic
20	64208000	AGAG	A	G64208015T	MYT1	NM_004535.3(MYT1):c.807_809GGA[4]:p.Glu273del	coding	Benign
21	14967913	TC	T	C14967915A	NRIP1	NM_003489.4(NRIP1):c.279del:p.Asp92_Trp93insTer	coding	Pathogenic
21	18279019	AAC	A	A18279020T	TMPRSS15	NM_002772.3(TMPRSS15):c.2707_2708del:p.Val903fs	coding	Pathogenic
21	21508842	C	CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	A21508848T	NCAM2	NM_004540.5(NCAM2):c.2078-4_2078-3insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	noncoding	Benign
21	25689871	AT	A	T25689875A	JAM2	NM_021219.4(JAM2):c.143del:p.Ile47_Leu48insTer	coding	Pathogenic
21	25689908	CCAGA	C	C25689909T	JAM2	NM_021219.4(JAM2):c.177_180del:p.Ser59_Arg60insTer	coding	Pathogenic
21	25698675	A	AG	T25698677G	JAM2	NM_021219.4(JAM2):c.395-1dup	noncoding	Pathogenic
21	25881780	CAA	C	A25881781G	APP	NM_000484.4(APP):c.2212-11_2212-10del	noncoding	Benign
21	25897626	TC	GA	T25897626G	APP	NM_000484.4(APP):c.2010_2011inv:p.Lys670_Met671delinsAsnLeu	coding	Pathogenic
21	26841994	C	CA	G26842000A	ADAMTS1	NM_006988.5(ADAMTS1):c.1078-9dup	noncoding	Benign
21	32298987	AACGCCTC	A	A32298988T	MRAP	NM_206898.1(MRAP):c.17_23del:p.Asn6fs	coding	Pathogenic
21	32299077	CG	C	G32299078T	MRAP	NM_178817.4(MRAP):c.106+1del	coding	Pathogenic
21	32306660	TG	T	G32306663T	MRAP	NM_206898.1(MRAP):c.130del:p.Trp43_Val44insTer	coding	Pathogenic
21	32601940	TTAAA	T	A32601943G	CFAP298	NM_021254.4(CFAP298):c.792_795del:p.Ala263_Tyr264insTer	coding	Pathogenic
21	32603260	C	CGCCTCTGCCT	C32603271G	CFAP298	NM_021254.4(CFAP298):c.557_566dup:p.Gln190fs	coding	Pathogenic
21	32631618	A	AAGTATT	A32631620G	SYNJ1	NM_003895.3(SYNJ1):c.4215_4216insAATACT:p.Leu1406_Ser1407insAsnThr	coding	Benign
21	32631618	A	AGTATT	A32631619G	SYNJ1	NM_003895.3(SYNJ1):c.4215_4216insAATAC:p.Leu1406fs	coding	Benign
21	32643430	AC	A	C32643434A	SYNJ1	NM_203446.3(SYNJ1):c.3457del:p.Gly1152_Val1153insTer	coding	Pathogenic
21	32646513	TG	T	G32646518A	SYNJ1	NM_203446.3(SYNJ1):c.3126del:p.Ser1043fs	coding	Pathogenic
21	32656686	CCTTAT	C	C32656687A	SYNJ1	NM_203446.3(SYNJ1):c.2793_2797del:p.Arg932fs	coding	Pathogenic
21	32666463	AAAAC	A	A32666473G	SYNJ1	NM_203446.3(SYNJ1):c.1910_1913GTTT[2]:p.Val640fs	coding	Pathogenic
21	32666563	GA	G	A32666564T	SYNJ1	NM_003895.3(SYNJ1):c.1938del:p.Gln647fs	coding	Pathogenic
21	32694271	ATTTGT	A	T32694272A	SYNJ1	NM_003895.3(SYNJ1):c.858_862del:p.Gln287fs	coding	Pathogenic
21	32694317	GA	G	A32694326T	SYNJ1	NM_203446.3(SYNJ1):c.706-7del	noncoding	Benign
21	32694317	G	GA	T32694327A	SYNJ1	NM_203446.3(SYNJ1):c.706-15dup	noncoding	Benign
21	33246806	GA	G	A33246807G	IFNAR2	NM_000874.5(IFNAR2):c.311del:p.Glu104fs	coding	Pathogenic
21	33421548	CAG	C	A33421551T	IFNGR2	NM_001329128.1(IFNGR2):c.333_334AG[1]:p.Glu112fs	coding	Pathogenic
21	33421652	G	GTGACAA	C33421661A	IFNGR2	NM_005534.3(IFNGR2):c.382_387dup:p.Thr128_Met129dup	coding	Pathogenic
21	33426973	ACC	A	C33426974T	IFNGR2	NM_005534.4(IFNGR2):c.503_504del:p.Thr168fs	coding	Pathogenic
21	33432274	AAAGTAACATCTTTAGAGTCGGGCATTT	A	T33432278C	IFNGR2	NM_005534.3(IFNGR2):c.663_689del:p.Phe224_Ile232del	coding	Pathogenic
21	33543114	A	AT	A33543120T	SON	NM_138927.4(SON):c.27dup:p.Arg10Ter	coding	Pathogenic
21	33543150	A	AGC	T33543151G	SON	NM_032195.2(SON):c.58_59insGC:p.Ile20fs	coding	Pathogenic
21	33546370	TATAAGCC	T	T33546372G	SON	NM_138927.4(SON):c.237_243del:p.Arg78_Tyr79insTer	coding	Pathogenic
21	33549607	GA	G	A33549615T	SON	NM_001291412.2(SON):c.244+3236del	coding	Pathogenic
21	33549607	G	GA	T33549616A	SON	NM_138927.4(SON):c.384dup:p.Tyr129fs	coding	Pathogenic
21	33549647	A	AT	G33549648T	SON	NM_032195.2(SON):c.416_417insT:p.Lys139fs	coding	Pathogenic
21	33550645	CCACCTGTGA	TTGCGTCTGTGG	C33550645T	SON	NM_001291412.2(SON):c.244+4266_244+4275delinsTTGCGTCTGTGG	coding	Pathogenic
21	33550717	GC	G	C33550718G	SON	NM_001291412.2(SON):c.244+4339del	coding	Pathogenic
21	33550763	CAG	C	A33550766T	SON	NM_138927.4(SON):c.1533_1534AG[1]:p.Glu512fs	coding	Pathogenic
21	33550804	CCTGGGCATCCTGAGGTGACAACGGCAACAGGGTTG	C	C33550810G	SON	NM_001291412.2(SON):c.244+4431_244+4465del	coding	Pathogenic
21	33550974	A	AC	T33550976C	SON	NM_138927.4(SON):c.1744dup:p.Leu582fs	coding	Pathogenic
21	33551057	CGGGGCAGTCT	C	T33551065C	SON	NM_001291412.2(SON):c.244+4686_244+4695del	coding	Pathogenic
21	33551595	TA	T	A33551596G	SON	NM_001291412.2(SON):c.244+5217del	coding	Pathogenic
21	33551845	GACTCTCAA	G	C33551847T	SON	NM_001291412.2(SON):c.245-5309_245-5302del	coding	Pathogenic
21	33552149	C	CA	C33552151A	SON	NM_001291412.2(SON):c.245-5006dup	coding	Pathogenic
21	33552678	GC	G	C33552680T	SON	NM_138927.4(SON):c.3449del:p.Pro1150fs	coding	Pathogenic
21	33552883	AG	A	G33552884T	SON	NM_138927.4(SON):c.3653del:p.Ser1218fs	coding	Pathogenic
21	33553078	TG	T	G33553079T	SON	NM_138927.3(SON):c.3848del:p.Cys1283fs	coding	Pathogenic
21	33553305	TGTCCTGGAGTCTTCGGCTGTGACC	T	G33553321A	SON	NM_032195.2(SON):c.4090_4113del:p.Ala1364_Ser1371del	coding	Benign
21	33553467	GCT	G	C33553468G	SON	NM_138927.4(SON):c.4237_4238del:p.Leu1413fs	coding	Pathogenic
21	33553695	TC	T	C33553696T	SON	NM_138927.4(SON):c.4465del:p.Leu1489fs	coding	Pathogenic
21	33553870	CA	C	A33553871T	SON	NM_001291412.2(SON):c.245-3285del	coding	Pathogenic
21	33554004	AACTC	A	A33554005T	SON	NM_001291412.2(SON):c.245-3151_245-3148del	coding	Pathogenic
21	33554005	ACT	A	C33554008A	SON	NM_138927.4(SON):c.4777_4778del:p.Leu1593fs	coding	Pathogenic
21	33554008	CTA	C	A33554010C	SON	NM_138927.4(SON):c.4779_4780del:p.Ser1594fs	coding	Pathogenic
21	33554091	CAGTTT	C	T33554096A	SON	NM_001291412.2(SON):c.245-3060_245-3056del	coding	Pathogenic
21	33554117	ATTTATCT	A	T33554120A	SON	NM_138927.4(SON):c.4889_4895del:p.Asp1629_Leu1630insTer	coding	Pathogenic
21	33554220	T	TATTC	C33554227T	SON	NM_138927.4(SON):c.4992_4995dup:p.Leu1666fs	coding	Pathogenic
21	33554285	T	TA	G33554290A	SON	NM_138927.4(SON):c.5058dup:p.Glu1687fs	coding	Pathogenic
21	33554725	TCTG	T	C33554726A	SON	NM_001291412.2(SON):c.245-2430_245-2428del	coding	Pathogenic
21	33554776	AAG	A	G33554780T	SON	NM_001291412.2(SON):c.245-2376_245-2375del	coding	Pathogenic
21	33554795	AGTCTCAT	A	G33554796C	SON	NM_138927.4(SON):c.5565_5571del:p.Lys1855fs	coding	Pathogenic
21	33554944	AAAAG	A	G33554948A	SON	NM_001291412.2(SON):c.245-2208_245-2205del	coding	Pathogenic
21	33554948	GA	G	A33554953G	SON	NM_138927.4(SON):c.5722del:p.Arg1908fs	coding	Pathogenic
21	33554948	G	GAA	G33554954A	SON	NM_138927.4(SON):c.5721_5722dup:p.Arg1908fs	coding	Pathogenic
21	33554981	CAGTT	C	T33554984A	SON	NM_138927.3(SON):c.5753_5756del:p.Val1918fs	coding	Pathogenic/Likely_pathogenic
21	33555090	AAGCCGCCGCAGCCGCACCCCC	A	C33555162G	SON	NM_001291412.2(SON):c.245-2065AGCCGCCGCAGCCGCACCCCC[3]	coding	Benign
21	33555232	T	TCC	A33555234C	SON	NM_138927.3(SON):c.6002_6003insCC:p.Arg2002fs	coding	Pathogenic/Likely_pathogenic
21	33555317	GC	G	C33555318A	SON	NM_138927.3(SON):c.6087del:p.Ser2029fs	coding	Pathogenic
21	33559612	C	CA	G33559618A	SON	NM_138927.4(SON):c.6499dup:p.Ser2167fs	coding	Pathogenic
21	33581395	CTTAGAG	C	G33581399A	DONSON	NM_017613.4(DONSON):c.1251_1256del:p.Asn417_Ser418del	coding	Pathogenic
21	33581397	T	TA	G33581399A	DONSON	NM_017613.4(DONSON):c.1254dup:p.Lys419Ter	coding	Pathogenic
21	34447697	G	GC	T34447701C	KCNE1	NM_000219.6(KCNE1):c.*1547dup	noncoding	Benign
21	34449540	C	CG	C34449544G	KCNE1	NM_000219.6(KCNE1):c.94dup:p.Arg32fs	coding	Pathogenic
21	34449622	T	TA	G34449624A	KCNE1	NM_000219.6(KCNE1):c.12dup:p.Asn5Ter	coding	Pathogenic/Likely_pathogenic
21	34670163	GGCGTAGAAGCGGGGGTCCCGGCGGGGGACA	G	G34670174C	CLIC6	NM_053277.3(CLIC6):c.786_815del:p.Gly263_Ala272del	coding	Benign
21	34789584	T	TCA	G34789604A	RUNX1	NC_000021.9:g.34789586_34789587AC[10]	noncoding	Benign
21	34789667	A	AT	G34789676T	RUNX1	NM_001754.4(RUNX1):c.*2467dup	noncoding	Benign
21	34789933	G	GA	C34789942A	RUNX1	NM_001754.4(RUNX1):c.*2201dup	noncoding	Benign
21	34789941	AC	A	C34789942A	RUNX1	NM_001754.4(RUNX1):c.*2193del	noncoding	Benign
21	34790450	CAT	C	A34790451G	RUNX1	NM_001754.4(RUNX1):c.*1683_*1684del	noncoding	Benign
21	34792164	G	GGC	G34792172C	RUNX1	NM_001754.4(RUNX1):c.1408_1409GC[4]:p.Leu472fs	coding	Pathogenic
21	34792300	C	CGGGGGGGGGGG	C34792303G	RUNX1	NM_001754.5(RUNX1):c.1277_1278insCCCCCCCCCCC:p.Arg427fs	coding	Benign
21	34792361	TA	T	A34792362C	RUNX1	NM_001754.5(RUNX1):c.1216del:p.Tyr406fs	coding	Pathogenic
21	34799295	GCTTA	G	A34799299G	RUNX1	NM_001754.5(RUNX1):c.967+2_967+5del	noncoding	Pathogenic
21	34834495	TG	T	G34834498C	RUNX1	NM_001754.4(RUNX1):c.719del:p.Pro240fs	coding	Pathogenic
21	34880553	GT	G	T34880554A	RUNX1	NM_001754.4(RUNX1):c.508+3del	noncoding	Pathogenic
21	34880563	CA	C	A34880564C	RUNX1	NM_001754.4(RUNX1):c.501del:p.Ser167fs	coding	Pathogenic
21	34880615	GGCTGCGGT	G	G34880616A	RUNX1	NM_001754.4(RUNX1):c.442_449del:p.Thr148fs	coding	Pathogenic
21	34886859	AG	A	G34886862T	RUNX1	NM_001754.5(RUNX1):c.334del:p.Leu112fs	coding	Pathogenic
21	34886895	GAGCAGAGGAA	CAGCGGAAGGAG	G34886895C	RUNX1	NM_001754.4(RUNX1):c.289_299delinsCTCCTTCCGCTG:p.Phe97fs	coding	Pathogenic
21	34886901	AG	A	G34886903A	RUNX1	NM_001754.4(RUNX1):c.292del:p.Leu98fs	coding	Pathogenic
21	34886952	ACC	A	C34886953T	RUNX1	NM_001754.4(RUNX1):c.240_241del:p.Glu80fs	coding	Pathogenic
21	34886977	T	TCC	T34886980C	RUNX1	NM_001754.4(RUNX1):c.215_216dup:p.Ser73fs	coding	Pathogenic
21	34886997	GCAGCGCCGGCGTCCGGGGCGCCCAGCGGCAA	G	A34886999G	RUNX1	NM_001754.5(RUNX1):c.166_196del:p.Leu56fs	coding	Pathogenic
21	34887000	G	GCGCCGGCGTCCGGGGCGCCCAGCGGCAA	T34887033G	RUNX1	NM_001754.4(RUNX1):c.166_193dup:p.Ala65fs	coding	Pathogenic
21	35048854	A	AC	T35048856C	RUNX1	NM_001754.5(RUNX1):c.45dup:p.Cys16fs	coding	Pathogenic
21	36461297	CA	C	A36461298T	CLDN14	NM_001146079.2(CLDN14):c.398del:p.Met133fs	coding	Pathogenic
21	36751103	A	AAT	G36751106A	HLCS	NM_000411.8(HLCS):c.*3141_*3142dup	noncoding	Benign
21	36754236	ACGC	A	G36754238C	HLCS	NM_000411.8(HLCS):c.*7_*9del	noncoding	Benign
21	36756658	TA	T	A36756660G	HLCS	NM_000411.8(HLCS):c.1892del:p.Pro630_Leu631insTer	coding	Pathogenic
21	36897050	TAAGA	T	A36897051G	HLCS	NM_000411.8(HLCS):c.1257_1260del:p.Leu420fs	coding	Pathogenic
21	36897051	AAG	A	A36897058C	HLCS	NM_000411.8(HLCS):c.1252_1253CT[3]:p.Ser419_Leu420insTer	coding	Pathogenic/Likely_pathogenic
21	36897140	TAAAG	T	G36897148T	HLCS	NM_000411.8(HLCS):c.1180-13_1180-10del	noncoding	Benign
21	36930243	CA	C	A36930245C	HLCS	NM_000411.8(HLCS):c.1179+7del	noncoding	Benign/Likely_benign
21	36930318	AG	A	G36930321T	HLCS	NM_000411.8(HLCS):c.1111del:p.Gly372fs	coding	Pathogenic
21	36936662	AC	A	C36936665T	HLCS	NM_000411.8(HLCS):c.782del:p.Gly261fs	coding	Pathogenic
21	36936789	A	AT	G36936791T	HLCS	NM_000411.8(HLCS):c.655dup:p.Ile219fs	coding	Pathogenic
21	36936860	A	AT	A36936862T	HLCS	NM_000411.8(HLCS):c.584dup:p.Tyr195Ter	coding	Pathogenic
21	37065602	CT	C	T37065605G	PIGP	NM_016430.3(PIGP):c.306del:p.Glu103fs	coding	Pathogenic
21	37472814	CAT	C	T37472816A	DYRK1A	NM_001347721.2(DYRK1A):c.143_144del:p.Ile48fs	coding	Pathogenic
21	37472815	A	AT	A37472817T	DYRK1A	NM_001347721.2(DYRK1A):c.143dup:p.Ser49fs	coding	Pathogenic
21	37472868	TCTAA	T	T37472874C	DYRK1A	NM_001347721.2(DYRK1A):c.197_200TAAC[1]:p.Asn68fs	coding	Pathogenic
21	37478216	G	GC	A37478221C	DYRK1A	NM_001347721.2(DYRK1A):c.220dup:p.Gln74fs	coding	Pathogenic
21	37478261	TTC	T	C37478263G	DYRK1A	NM_001347721.2(DYRK1A):c.263_264del:p.Ser88fs	coding	Pathogenic
21	37478265	GTTGAC	G	C37478270T	DYRK1A	NM_001347721.2(DYRK1A):c.270_274del:p.Leu91fs	coding	Pathogenic
21	37478283	T	TA	C37478285A	DYRK1A	NM_001347721.2(DYRK1A):c.284dup:p.Tyr95Ter	coding	Pathogenic
21	37480648	CA	C	A37480654G	DYRK1A	NM_001347721.2(DYRK1A):c.317del:p.Lys106fs	coding	Pathogenic
21	37480677	CA	C	A37480678G	DYRK1A	NM_001347721.2(DYRK1A):c.341del:p.Gln114fs	coding	Pathogenic
21	37480756	T	TA	C37480763A	DYRK1A	NM_001347721.2(DYRK1A):c.425dup:p.Asn142fs	coding	Pathogenic
21	37480759	AAAACGGAGAAAAGTGG	A	A37480761T	DYRK1A	NM_001347721.2(DYRK1A):c.424_439del:p.Asn142fs	coding	Pathogenic
21	37480767	GA	G	A37480771G	DYRK1A	NM_001347721.2(DYRK1A):c.434del:p.Lys145fs	coding	Pathogenic
21	37480785	T	TA	C37480787A	DYRK1A	NM_001347721.2(DYRK1A):c.449dup:p.Tyr150Ter	coding	Pathogenic
21	37480808	CA	C	A37480811G	DYRK1A	NM_001347721.2(DYRK1A):c.474del:p.Gly159fs	coding	Pathogenic
21	37486483	A	AT	C37486485T	DYRK1A	NM_001347721.2(DYRK1A):c.507dup:p.Arg170fs	coding	Pathogenic
21	37486507	C	CCA	T37486510C	DYRK1A	NM_001347721.2(DYRK1A):c.531_532dup:p.Ile178fs	coding	Pathogenic
21	37486516	TAATA	T	T37486519G	DYRK1A	NM_001347721.2(DYRK1A):c.542_545del:p.Ile181fs	coding	Pathogenic
21	37486519	TAAAG	T	A37486522C	DYRK1A	NM_001347721.2(DYRK1A):c.545_548del:p.Lys182fs	coding	Pathogenic/Likely_pathogenic
21	37486527	AAG	TTCTT	A37486527T	DYRK1A	NM_001347721.2(DYRK1A):c.550_552delinsTTCTT:p.Lys184fs	coding	Pathogenic
21	37486571	TGAG	GAA	T37486571G	DYRK1A	NM_001347721.2(DYRK1A):c.594_597delinsGAA:p.Glu199fs	coding	Pathogenic
21	37486582	A	AC	A37486584C	DYRK1A	NM_001347721.2(DYRK1A):c.606dup:p.Lys203fs	coding	Pathogenic
21	37490163	TTTCTC	T	C37490166T	DYRK1A	NM_001347721.2(DYRK1A):c.638-9_638-5del	noncoding	Pathogenic/Likely_pathogenic
21	37490193	TTA	T	A37490195G	DYRK1A	NM_001347721.2(DYRK1A):c.658_659del:p.Met220fs	coding	Pathogenic
21	37490208	ATC	A	C37490212G	DYRK1A	NM_001347721.2(DYRK1A):c.673_674CT[1]:p.Cys226fs	coding	Pathogenic
21	37490215	TTT	AC	T37490215A	DYRK1A	NM_001347721.2(DYRK1A):c.678_680delinsAC:p.Cys226_Leu227delinsTer	coding	Pathogenic
21	37490219	GT	G	T37490224G	DYRK1A	NM_001347721.2(DYRK1A):c.687del:p.Phe229fs	coding	Pathogenic
21	37490237	TAC	ATAGAGGTTGT	T37490237A	DYRK1A	NM_001347721.2(DYRK1A):c.700_702delinsATAGAGGTTGT:p.Tyr234fs	coding	Pathogenic
21	37490291	CT	C	T37490292A	DYRK1A	NM_001347721.2(DYRK1A):c.755del:p.Leu252fs	coding	Pathogenic
21	37490301	AGTT	A	G37490302T	DYRK1A	NM_001347721.2(DYRK1A):c.765_767del:p.Lys255_Phe256delinsAsn	coding	Pathogenic
21	37490339	GC	G	C37490340G	DYRK1A	NM_001347721.2(DYRK1A):c.803del:p.Ala268fs	coding	Pathogenic
21	37490350	A	AC	T37490352C	DYRK1A	NM_001347721.2(DYRK1A):c.814dup:p.Leu272fs	coding	Pathogenic
21	37490353	T	TA	G37490355A	DYRK1A	NM_001347721.2(DYRK1A):c.817dup:p.Ser273fs	coding	Pathogenic
21	37490451	T	TG	C37490456G	DYRK1A	NM_001347721.2(DYRK1A):c.918dup:p.Gln307fs	coding	Pathogenic
21	37490461	GGTAA	G	A37490465T	DYRK1A	NM_001347721.2(DYRK1A):c.924+4_924+7del	coding	Pathogenic/Likely_pathogenic
21	37493072	T	TCCCA	G37493073C	DYRK1A	NM_001347721.2(DYRK1A):c.980_981insCCCA:p.Met327fs	coding	Pathogenic
21	37493073	GCCTTATGA	G	A37493078G	DYRK1A	NM_001347721.2(DYRK1A):c.986_993del:p.Tyr329fs	coding	Pathogenic
21	37493094	T	TA	T37493096A	DYRK1A	NM_001347721.2(DYRK1A):c.1003dup:p.Met335fs	coding	Pathogenic
21	37493157	CAATGAGGTA	C	G37493163T	DYRK1A	NM_001347721.2(DYRK1A):c.1071_1071+8del	coding	Pathogenic
21	37496118	GTAGA	G	A37496120C	DYRK1A	NM_001347721.2(DYRK1A):c.1074_1077del:p.Asp359fs	coding	Pathogenic
21	37496142	GA	G	A37496144G	DYRK1A	NM_001347721.2(DYRK1A):c.1098del:p.Val367fs	coding	Pathogenic
21	37496180	A	AG	C37496182G	DYRK1A	NM_001347721.2(DYRK1A):c.1135dup:p.Ala379fs	coding	Pathogenic
21	37496218	AT	A	T37496219G	DYRK1A	NM_001347721.2(DYRK1A):c.1173del:p.Asp391fs	coding	Pathogenic
21	37496249	T	TG	A37496252G	DYRK1A	NM_001347721.2(DYRK1A):c.1205dup:p.Arg404fs	coding	Pathogenic
21	37505288	CA	C	A37505291C	DYRK1A	NM_001347721.2(DYRK1A):c.1221del:p.Lys407fs	coding	Pathogenic
21	37505306	TA	T	A37505309C	DYRK1A	NM_001347721.2(DYRK1A):c.1239del:p.Lys413fs	coding	Pathogenic
21	37505341	G	GT	A37505342T	DYRK1A	NM_001347721.2(DYRK1A):c.1271_1272insT:p.Pro425fs	coding	Pathogenic
21	37505344	C	CT	G37505346T	DYRK1A	NM_001347721.2(DYRK1A):c.1275dup:p.Gly426fs	coding	Pathogenic
21	37505358	GC	G	C37505359T	DYRK1A	NM_001347721.2(DYRK1A):c.1289del:p.Ala430fs	coding	Pathogenic
21	37505375	T	TA	C37505377A	DYRK1A	NM_001347721.2(DYRK1A):c.1306dup:p.Thr436fs	coding	Pathogenic
21	37505412	T	TTAAG	G37505417T	DYRK1A	NM_001347721.2(DYRK1A):c.1343_1346dup:p.Arg449fs	coding	Pathogenic
21	37505418	ATGCT	A	C37505421A	DYRK1A	NM_001347721.2(DYRK1A):c.1351_1354del:p.Leu451fs	coding	Pathogenic
21	37505421	CTTGA	C	G37505424A	DYRK1A	NM_001347721.2(DYRK1A):c.1354_1357del:p.Asp452fs	coding	Pathogenic
21	37505425	A	AT	A37505428T	DYRK1A	NM_001347721.2(DYRK1A):c.1357dup:p.Tyr453fs	coding	Pathogenic
21	37505427	T	TTC	A37505428T	DYRK1A	NM_001347721.2(DYRK1A):c.1357_1358insTC:p.Tyr453fs	coding	Pathogenic
21	37505442	C	CG	A37505444G	DYRK1A	NM_001347721.2(DYRK1A):c.1373dup:p.Ile459fs	coding	Pathogenic
21	37505515	AT	TCTACA	A37505515T	DYRK1A	NM_001347721.2(DYRK1A):c.1445_1446delinsTCTACA:p.Asn482fs	coding	Pathogenic
21	37505530	GC	G	C37505534G	DYRK1A	NM_001347721.2(DYRK1A):c.1464del:p.Ala489fs	coding	Pathogenic
21	37506208	GAC	G	C37506214G	DYRK1A	NM_001347721.2(DYRK1A):c.1631_1632CA[2]:p.His545fs	coding	Pathogenic
21	37512066	TCAC	T	C37512081T	DYRK1A	NM_001347721.2(DYRK1A):c.1803_1805CCA[4]:p.His610del	coding	Benign
21	37714699	ATGG	A	G37714704T	KCNJ6	NM_002240.5(KCNJ6):c.452_454CCA[1]:p.Thr152del	coding	Pathogenic
21	40142687	CG	C	G40142694T	DSCAM	NM_001389.5(DSCAM):c.3276del:p.Glu1093fs	coding	Pathogenic
21	41740054	A	ACT	T41740057C	RIPK4	NM_020639.3(RIPK4):c.*782_*783dup	noncoding	Benign
21	41744002	C	CA	G41744004A	RIPK4	NM_020639.3(RIPK4):c.1074dup:p.Glu359Ter	coding	Pathogenic
21	42383199	C	CTA	G42383203A	TMPRSS3	NM_024022.2(TMPRSS3):c.617-3_617-2dup	noncoding	Benign/Likely_benign
21	42383200	T	TTA	A42383201T	TMPRSS3	NM_024022.3(TMPRSS3):c.617-3_617-2insTA	noncoding	Benign
21	42384006	A	AT	C42384008T	TMPRSS3	NM_001256317.3(TMPRSS3):c.579dup:p.Cys194fs	coding	Pathogenic
21	42389042	TG	T	G42389044A	TMPRSS3	NM_024022.3(TMPRSS3):c.208del:p.His70fs	coding	Pathogenic/Likely_pathogenic
21	42477152	CCCACAGCCCGGGGATGCCCCACACCCTCTGACCCCTCCACCCCACAGCCCGGGGATGCCCCACACCCTCTGTCCCACAGCCCGGGGGTGCCCCACACCCTCTGCCCCCTCCACCCCACAGCCCGGGGGTGCCCCACACT	C	C42477154T	RSPH1	NM_080860.4(RSPH1):c.727_727+138del	noncoding	Pathogenic
21	42477337	C	CT	G42477343T	RSPH1	NM_080860.4(RSPH1):c.680dup:p.Pro228fs	coding	Pathogenic
21	42482619	ACATGCTCCGCAACTTAC	A	G42482623A	RSPH1	NM_080860.4(RSPH1):c.573+1_573+17del	noncoding	Pathogenic
21	42485759	ATACT	A	T42485764G	RSPH1	NM_080860.4(RSPH1):c.403_406AGTA[1]:p.Lys136fs	coding	Pathogenic
21	42486430	A	ATGGCCGTGCCGCAGGTCAT	T42486451G	RSPH1	NM_080860.4(RSPH1):c.287_305dup:p.His102delinsGlnTer	coding	Pathogenic
21	42486448	A	AT	G42486452T	RSPH1	NM_080860.4(RSPH1):c.287dup:p.Asn96fs	coding	Pathogenic
21	42853603	A	AG	C42853610G	WDR4	NM_018669.6(WDR4):c.940dup:p.Leu314fs	coding	Pathogenic
21	42853616	G	GGCAGTCCTGGAGCACCC	A42853634G	WDR4	NM_018669.6(WDR4):c.911_927dup:p.Gln310fs	coding	Pathogenic
21	43053772	TGCCAG	T	C43053780A	CBS	NM_001178009.3(CBS):c.18+85_18+89del	noncoding	Benign
21	43053969	TC	T	C43053972G	CBS	NM_000071.2(CBS):c.1566del:p.Lys523fs	coding	Pathogenic/Likely_pathogenic
21	43056855	CGA	C	A43056859C	CBS	NM_000071.2(CBS):c.1496_1497TC[1]:p.Ser500fs	coding	Pathogenic
21	43057987	TACCTGTTTGAGCTGCCTGTAGGTGACCGCTC	T	T43058017G	CBS	NM_000071.2(CBS):c.1467+127_1467+157del	noncoding	Benign
21	43059227	AG	A	G43059230C	CBS	NM_000071.2(CBS):c.1221del:p.Trp408fs	coding	Pathogenic/Likely_pathogenic
21	43059230	GC	G	C43059231T	CBS	NM_000071.2(CBS):c.1218del:p.Lys406fs	coding	Pathogenic/Likely_pathogenic
21	43062344	GG	AA	G43062344A	CBS	NM_000071.2(CBS):c.1005_1006delinsTT:p.Arg336Cys	coding	Pathogenic
21	43063061	G	GGGTTCCACCTCGTAGGTTGTCTGCTCCGTCTGGTTCAGCTCCTCCGGCTCTGCGAGGATGGACCCTTC	A43063064T	CBS	NM_000071.2(CBS):c.845_846insGAAGGGTCCATCCTCGCAGAGCCGGAGGAGCTGAACCAGACGGAGCAGACAACCTACGAGGTGGAACC:p.Glu283_Gly284insLysGlyProSerSerGlnSerArgArgSerTer	coding	Benign
21	43063062	G	GGATCCACCCCAATGATCTGCAGAGGGCGCGGCTTCAGGGCTCAAGCCCAGCAAAAGCCCCACCTGGAT	G43063108C	CBS	NM_000071.2(CBS):c.844_845insATCCAGGTGGGGCTTTTGCTGGGCTTGAGCCCTGAAGCCGCGCCCTCTGCAGATCATTGGGGTGGATC	coding	Benign
21	43063073	A	AATGATCTGCAGAGGGCGCGGCTTCAGGGCTCAAGCCCAGCAAAAGCCCCACCTGG	G43063108C	CBS	NM_000071.2(CBS):c.833_834insCCAGGTGGGGCTTTTGCTGGGCTTGAGCCCTGAAGCCGCGCCCTCTGCAGATCAT	coding	Benign
21	43063073	A	AATTGATCTGCAGAGGGCGCGGCTTCAGGGCTCAAGCCCAGCAAAAGCCCCACCTGG	G43063076T	CBS	NM_000071.3(CBS):c.833_834insCCAGGTGGGGCTTTTGCTGGGCTTGAGCCCTGAAGCCGCGCCCTCTGCAGATCAAT:p.Gly279fs	coding	Benign
21	43063074	A	ATGATCTGCAGAGGGCGCGGCTTCAGGGCTCAAGCCCAGCAAAAGCCCCACCTGGATGATCCACCCCAG	G43063108C	CBS	NM_000071.2(CBS):c.832_833insCTGGGGTGGATCATCCAGGTGGGGCTTTTGCTGGGCTTGAGCCCTGAAGCCGCGCCCTCTGCAGATCA	coding	Benign/Likely_benign
21	43063074	A	ATGATCTGCAGAGGGCGCGGCTTCAGGGCTCAAGCCCAGCAAAAGCCCCACCTGGGTGATCCACCCCAG	G43063108C	CBS	NM_000071.2(CBS):c.832_833insCTGGGGTGGATCACCCAGGTGGGGCTTTTGCTGGGCTTGAGCCCTGAAGCCGCGCCCTCTGCAGATCA	coding	Benign
21	43063074	A	ATGATCTGCAGAGGGCGCGGCTTCAGGGCTCAAGGCCAGCAAAAGCCCCACCTGGATGATCCACCCCAG	G43063123A	CBS	NC_000021.9:g.43063074_43063075insTGATCTGCAGAGGGCGCGGCTTCAGGGCTCAAGGCCAGCAAAAGCCCCACCTGGATGATCCACCCCAG	coding	Benign
21	43063107	G	GCTCAGCAAAAGCCCCACCTGGATGATCCACCCCAGTGATC	G43063108C	CBS	NM_000071.3(CBS):c.829-30_829-29insGATCACTGGGGTGGATCATCCAGGTGGGGCTTTTGCTGAG	noncoding	Benign
21	43063989	TC	T	C43063992T	CBS	NM_000071.2(CBS):c.738delG	coding	Pathogenic
21	43065249	CA	C	A43065250G	CBS	NM_000071.2(CBS):c.689del:p.Leu230fs	coding	Pathogenic/Likely_pathogenic
21	43065278	TAGAAAGAG	T	A43065281C	CBS	NM_000071.2(CBS):c.667-14_667-7del	noncoding	Pathogenic/Likely_pathogenic
21	43065428	G	GCCAGGCCACCCCCACGTGTGACTCCGGGGAGTCGAACCTGGCATTGGTGGGCGTCCTCACAATCTCAGCCCCCAGTGCCCGCAGCACGTCCACCTGCAGGAGGGAAAGCGGTGGCCTGCACCTTCCGCCTGGCCCAGGCACCCTCATCCCCTGCCCTATGACCCCGCCCCTGGCCACGCCCACCCACCTTCTCGGAGCTCATCTTCTCTGGCATCACGATGATGCAGCGATAGCCCCTCACTGCCGCAGCCAGGGCCAGCCCGATCCCTGAGGGCACACAGAGGGTGAGAGGGGCCCAGTGACCCCCCAAGCCCTGCCCCGCCCCTGCCTGGGACACAGGGGCACACCCCGATGCCGGTTCCCTTAGGGCCCAGGGAAGAGGGTTCTGTGGGATTCCAAAATTGCCCAACATGGCTGCTT	T43065850C	CBS	NM_000071.2(CBS):c.452-153_624dup	coding	Pathogenic
21	43065670	T	TGGGCCCTG	C43065672G	CBS	NM_000071.3(CBS):c.476_477insCAGGGCCC:p.Val160fs	coding	Pathogenic
21	43072165	AC	A	C43072166T	CBS	NM_000071.2(CBS):c.28del:p.Val10fs	coding	Pathogenic/Likely_pathogenic
21	43072174	TG	T	G43072180T	CBS	NM_000071.3(CBS):c.19del:p.Gln7fs	coding	Pathogenic
21	43072174	T	TG	T43072181G	CBS	NM_000071.2(CBS):c.19dup:p.Gln7fs	coding	Pathogenic
21	43420344	CGGG	C	G43420345T	SIK1	NM_173354.5(SIK1):c.859_861del:p.Pro287del	coding	Benign/Likely_benign
21	43422039	TA	T	A43422042G	SIK1	NM_173354.5(SIK1):c.274-3del	noncoding	Benign/Likely_benign
21	43774279	GGA	G	G43774284T	CSTB	NM_000100.4(CSTB):c.214_215TC[2]:p.Leu73fs	coding	Pathogenic/Likely_pathogenic
21	43774295	T	TCGCA	G43774300C	CSTB	NM_000100.3(CSTB):c.200_203dup:p.Val69fs	coding	Pathogenic
21	43774637	CTCCTGAGGCCCACACTCTA	TT	C43774637T	CSTB	NM_000100.4(CSTB):c.168+2_168+21delinsAA	noncoding	Pathogenic
21	43774638	TCCTGAGGCCCACACTCTA	T	G43774642T	CSTB	NM_000100.3(CSTB):c.168+2_168+19del	noncoding	Pathogenic
21	43776292	TGGCGAGGGGACTC	T	T43776304G	CSTB	NM_000100.3(CSTB):c.-36_-24del	noncoding	Benign
21	44285985	CCCGGGTCCCCGCGCCCACCCCATGGCGACGGACGCGGCGCTACG	C	G44285990C	AIRE	NM_000383.4(AIRE):c.-17_27del:p.Met1fs	noncoding	Pathogenic
21	44286026	T	TACGCCGGCTTCTGAGGCTGCACC	G44286050A	AIRE	NM_000383.4(AIRE):c.21_43dup:p.Arg15delinsHisAlaGlyPheTer	coding	Pathogenic/Likely_pathogenic
21	44286119	TC	T	C44286123G	AIRE	NM_000383.4(AIRE):c.117del:p.Glu40fs	coding	Pathogenic
21	44286139	GTG	CT	G44286139C	AIRE	NM_000383.4(AIRE):c.132+1_132+3delinsCT	noncoding	Pathogenic
21	44286623	CTGA	TGG	C44286623T	AIRE	NM_000383.4(AIRE):c.199_202delinsTGG:p.Leu67fs	coding	Pathogenic
21	44286628	C	CCAGG	A44286633C	AIRE	NM_000383.4(AIRE):c.205_208dup:p.Asp70fs	coding	Pathogenic
21	44287536	G	GC	A44287543C	AIRE	NM_000383.4(AIRE):c.489dup:p.Lys164fs	coding	Pathogenic
21	44287554	G	GAGCAGCGCAGAGC	C44287576A	AIRE	NM_000383.4(AIRE):c.510_522dup:p.Leu175fs	coding	Pathogenic
21	44289792	GC	G	C44289793G	AIRE	NM_000383.4(AIRE):c.789del:p.Ala264fs	coding	Pathogenic
21	44290010	GC	G	C44290012A	AIRE	NM_000383.4(AIRE):c.823del:p.Gln275fs	coding	Pathogenic
21	44291145	CT	C	T44291146G	AIRE	NM_000383.4(AIRE):c.931del:p.Cys311fs	coding	Pathogenic
21	44291171	AC	A	C44291173T	AIRE	NM_000383.4(AIRE):c.958del:p.Leu320fs	coding	Pathogenic
21	44291179	TGCCTGTCCCCTCC	T	C44291182T	AIRE	NM_000383.4(AIRE):c.967_979del:p.Leu323fs	coding	Pathogenic
21	44291213	GAG	TAT	G44291213T	AIRE	NM_000383.4(AIRE):c.995+3_995+5delinsTAT	noncoding	Pathogenic
21	44292474	AC	A	C44292479T	AIRE	NM_000383.4(AIRE):c.1095+78del	noncoding	Benign
21	44292994	T	TC	G44293001C	AIRE	NM_000383.4(AIRE):c.1103dup:p.Leu370fs	coding	Pathogenic
21	44293060	T	TA	G44293061A	AIRE	NM_000383.4(AIRE):c.1163_1164insA:p.Met388fs	coding	Pathogenic
21	44293088	GC	G	C44293090G	AIRE	NM_000383.4(AIRE):c.1193del:p.Pro398fs	coding	Pathogenic
21	44293141	A	AC	T44293147C	AIRE	NM_000383.4(AIRE):c.1249dup:p.Leu417fs	coding	Pathogenic/Likely_pathogenic
21	44293160	TC	T	C44293162T	AIRE	NM_000383.4(AIRE):c.1265del:p.Pro422fs	coding	Pathogenic
21	44293805	C	CA	G44293806A	AIRE	NM_000383.4(AIRE):c.1295_1296insA:p.Arg433fs	coding	Pathogenic/Likely_pathogenic
21	44296391	TG	T	G44296392C	AIRE	NM_000383.4(AIRE):c.1513del:p.Ala505fs	coding	Pathogenic
21	44331921	TTGGGGCCGCCGTGGCCTGTGCCCTCTCTCTC	T	C44331931A	CFAP410	NM_004928.3(CFAP410):c.436_466del:p.Glu146fs	coding	Pathogenic
21	44333221	T	TGGCACCGGCTCACAGGCTCC	A44333242G	CFAP410	NM_004928.3(CFAP410):c.165_184dup:p.Gln62delinsArgSerLeuTer	coding	Pathogenic
21	44335797	AT	A	T44335798G	CFAP410	NM_004928.3(CFAP410):c.103del:p.Ile35fs	coding	Pathogenic
21	44339132	GCGCA	G	A44339136T	CFAP410	NM_004928.3(CFAP410):c.59_62del:p.Val20fs	coding	Pathogenic
21	44339161	C	CTGCACGCTGTGCAGCT	C44339162T	CFAP410	NM_004928.3(CFAP410):c.33_34insAGCTGCACAGCGTGCA:p.Ala12fs	coding	Pathogenic
21	44509224	TG	T	G44509225A	TSPEAR	NM_144991.3(TSPEAR):c.1728del:p.Lys577fs	coding	Pathogenic
21	44509275	CAT	C	T44509277G	TSPEAR	NM_144991.3(TSPEAR):c.1676_1677del:p.Tyr559fs	coding	Pathogenic/Likely_pathogenic
21	44533769	ACCAG	A	C44533770G	TSPEAR	NM_144991.3(TSPEAR):c.454_457del:p.Leu152fs	coding	Pathogenic
21	44888702	CA	C	A44888703T	ITGB2	NM_000211.5(ITGB2):c.2070del:p.Asp690fs	coding	Pathogenic
21	44888717	G	GGTAGC	G44888724T	ITGB2	NM_000211.5(ITGB2):c.2051_2055dup:p.Leu686fs	coding	Pathogenic
21	44888865	CT	C	T44888869C	ITGB2	NM_000211.5(ITGB2):c.1907del:p.Lys636fs	coding	Pathogenic
21	44888935	C	CG	C44888941G	ITGB2	NM_000211.5(ITGB2):c.1878-45dup	noncoding	Benign
21	44893484	AG	A	G44893486T	ITGB2	NM_000211.5(ITGB2):c.1143del:p.Tyr382fs	coding	Pathogenic
21	44900373	TG	T	G44900378T	ITGB2	NM_000211.5(ITGB2):c.843del:p.Asn282fs	coding	Pathogenic
21	44900430	TG	T	G44900432C	ITGB2	NM_000211.5(ITGB2):c.786del:p.Thr263fs	coding	Pathogenic
21	44900463	AG	A	G44900464C	ITGB2	NM_000211.5(ITGB2):c.753del:p.Trp252fs	coding	Pathogenic
21	44901656	T	TG	C44901661G	ITGB2	NM_000211.5(ITGB2):c.576dup:p.Asn193fs	coding	Pathogenic
21	45468563	G	GT	G45468565T	COL18A1	NM_030582.4(COL18A1):c.969dup:p.Ala324fs	coding	Pathogenic
21	45476383	A	AC	G45476390C	COL18A1	NM_030582.4(COL18A1):c.1377dup:p.Val460fs	coding	Pathogenic
21	45477808	G	GC	A45477815C	COL18A1	NM_030582.4(COL18A1):c.1610dup:p.Gly538fs	coding	Pathogenic
21	45477898	TC	T	C45477902G	COL18A1	NM_030582.4(COL18A1):c.1698del:p.Gly567fs	coding	Pathogenic
21	45490858	GC	G	C45490860G	COL18A1	NM_030582.4(COL18A1):c.2596del:p.Arg866fs	coding	Pathogenic
21	45491268	G	GC	G45491276C	COL18A1	NM_130445.2(COL18A1):c.2118dupC:p.Gly707Argfs	coding	Pathogenic
21	45491385	G	GC	A45491394C	COL18A1	NM_030582.4(COL18A1):c.2697+79dup	noncoding	Benign
21	45492744	G	GCCCGCCACTGCCCT	G45492749C	COL18A1	NM_030582.4(COL18A1):c.2754+35_2754+36insCCACTGCCCTCCCG	noncoding	Benign
21	45496602	AC	A	C45496605T	COL18A1	NM_030582.4(COL18A1):c.3117+37del	noncoding	Benign
21	45497644	G	GC	G45497652C	COL18A1	NM_030582.4(COL18A1):c.3213dup:p.Gly1072fs	coding	Pathogenic
21	45504028	TTTC	T	T45504032A	COL18A1	NM_030582.4(COL18A1):c.3242_3244TTC[1]:p.Leu1082del	coding	Benign/Likely_benign
21	45504504	G	GC	G45504512C	COL18A1	NM_030582.4(COL18A1):c.3363dup:p.Gly1122fs	coding	Pathogenic
21	45504511	CGGCCCCCCA	C	C45504526A	COL18A1	NM_030582.4(COL18A1):c.3364_3377=:p.Gly1122_Pro1126=	coding	Benign/Likely_benign
21	45505223	T	TCCCGGCCCC	A45505235C	COL18A1	NM_030582.4(COL18A1):c.3492_3500dup:p.1162_1164GPP[5]	coding	Benign
21	45505235	A	AGGCCCCCCC	A45505244C	COL18A1	NM_030582.4(COL18A1):c.3509_3510insCGGCCCCCC:p.1162_1164GPP[5]	coding	Benign
21	45505235	AGGCCCCCCAG	A	C45505243T	COL18A1	NM_030582.4(COL18A1):c.3509_3518del:p.Pro1170fs	coding	Pathogenic
21	45505244	AG	C	A45505244C	COL18A1	NM_030582.4(COL18A1):c.3510_3511delinsC:p.Pro1173fs	coding	Pathogenic
21	45509608	GC	G	C45509615A	COL18A1	NM_030582.4(COL18A1):c.4035+14del	noncoding	Benign
21	45510086	GCC	G	C45510090T	SLC19A1;COL18A1	NM_030582.4(COL18A1):c.4053_4054del:p.Leu1352fs	coding	Pathogenic
21	45510090	CCT	C	C45510091G	COL18A1	NM_030582.4(COL18A1):c.4054_4055del:p.Leu1352fs	coding	Pathogenic
21	45510099	CGG	C	G45510100C	COL18A1	NM_001379500.1(COL18A1):c.3532_3533del:p.Gly1178fs	coding	Pathogenic
21	45511090	T	TAC	G45511097A	COL18A1	NM_030582.4(COL18A1):c.4234-20AC[4]	noncoding	Benign
21	45512337	G	GTGCC	C45512338T	COL18A1	NM_030582.4(COL18A1):c.4490_4491insTGCC:p.Cys1498fs	coding	Pathogenic
21	45513546	C	CCA	G45513547C	COL18A1	NM_194255.4(SLC19A1):c.*2111_*2112insTG	noncoding	Benign
21	45981900	C	CAGCCGCGCAGGATG	G45981920C	COL6A1	NM_001848.3(COL6A1):c.56_69dup:p.Glu24fs	coding	Pathogenic
21	45982313	G	GC	G45982315C	COL6A1	NM_001848.2(COL6A1):c.98-320dup	noncoding	Benign
21	45982628	GGCCAGACT	G	A45982632C	COL6A1	NM_001848.3(COL6A1):c.98-2_103del	noncoding	Pathogenic/Likely_pathogenic
21	45982665	C	CACCT	C45982670A	COL6A1	NM_001848.3(COL6A1):c.130_133dup:p.Ser45fs	coding	Pathogenic
21	45982681	GC	G	C45982684T	COL6A1	NM_001848.2(COL6A1):c.148del:p.Ala49_Leu50insTer	coding	Pathogenic
21	45984352	CGCGCATGCCTGGCGGCCGCGACGCACTCAAAAGCA	C	C45984356T	COL6A1	NM_001848.2(COL6A1):c.315_349del:p.Met106fs	coding	Pathogenic
21	45986649	CAA	C	A45986651G	COL6A1	NM_001848.3(COL6A1):c.554_555del:p.Lys185fs	coding	Pathogenic
21	45986696	G	GC	G45986705C	COL6A1	NM_001848.2(COL6A1):c.588+19dup	noncoding	Benign
21	45987622	CCTCCGGGG	C	T45987632G	COL6A1	NM_001848.2(COL6A1):c.774_781TCCGGGGC[1]:p.Leu261fs	coding	Pathogenic
21	45988512	GCCGTGCAGGGTGTGGACTGTCCCGGGGGCGCTGGGGGCTTCTGAGGGTGTCTCTGTCCGCCCTGCCCTCAGCCGCACTCTGTTCAGAAGGACCTTTCTGGAGGTAGGAGGGTGAGAATGTGGGTCCCCTGCTTCTGTGTGGCTCACATAGGATGACCTTAAACGTTAGAATTAGCTGCTGATAATTAAAACTTGCCATGAGGCTGCTCATGGACCTCAGATTTCTGGCTTCTCCTAAAAACCATCAAACCCAGCAGCTGTGGGCCCGAGTCCCATGGCCATTTCCTGGGGGTCGAGCTGTGACCCTGGGGGGCTTCTGTGCTGCACGTCCCTCCCACCTGTGCCTGGGGGTCAGCAAAGCCGAGCAGACAGGAACGAAGGCAGGGAGTGGGGGGAGCTGGCGTGCGGGTTGGAGCTCCCAGACCCAGGCTGACCAGATGTGATGGGGAAGGTGCTTTAAAGCCCTTGATCCCTGAAGGCTGGATGAAGCGTCTTTTTAAAAACCTGTTTCGTGAGCCAGCTTTTTAGAAAGAAACGGGGCTGCCCCAACCTTGACCTGTTTTGTGTTCCAGGGAGAACGAGGCAAGCCGGGGCTCCCAGGAGAGAAGGGAGAAGCCGGAGATCCTGTGAGTGCCTGACTGTGGGGTGGGGGCCCTAAGAAGCTGGAGGCGGGGAACGACTAGGCCTCGGAAACTTCCGGAAGAGTGGCTGGGTTCTGAGTGCCAAAGTCACACTGCCTGTTCCTTGTGGGTGGGAGCAGACCTGGAGGGGCCACAGCCCAGCCATCCTTCCACACAGCCCCCCAGGCAGCCCGTAAGCCCCCCTGCCAGGGAGGGGCTGGGTGGGGAGGTGGCCCAGGGTGCTCAGGCCGGCACCGTCCGGGGCCCCTGCCGTGGCTCCTTGGCCCAAATCCTATCCATAGACTTCCCTCCCCCAGCTCCACCTTGGAGGGCCTCGGCACCATGGGCCCCGTGCAGCAGGGCCCCTCTCTCGGCCTGACCAGGCCTGGGCTGGAGGGAGGGGTGTGGGGCTGGGTGGGACTGGCCCCTGCCCCTGCTCCTCCGGGGGTGTCTCACCATCTCCTCCTGTGTTCCAGGGAAGACCCGGGGACCTCGGACCTGTTGGGTACCAGGGAATGAAGGTACG	TCCCTCCCCATTTCC	G45988512T	COL6A1	NM_001848.2(COL6A1):c.805-572_903+5delinsTCCCTCCCCATTTCC	noncoding	Pathogenic
21	45989134	TC	T	C45989136T	COL6A1	NM_001848.2(COL6A1):c.857del:p.Pro286fs	coding	Pathogenic
21	45989773	GAGA	G	A45989776G	COL6A1	NM_001848.2(COL6A1):c.928_930del:p.Lys310del	coding	Pathogenic
21	45990283	AGGTGAGCG	A	G45990284T	COL6A1	NM_001848.2(COL6A1):c.957_957+7del	coding	Pathogenic/Likely_pathogenic
21	45990459	A	AGGAGGGACGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCGGGAGGACGGGGAGGGACGG	A45990465G	COL6A1	NM_001848.2(COL6A1):c.1002+42_1002+43insGACGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCGGGAGGACGGGGAGGGACGGGGAGG	noncoding	Benign
21	45990464	GAATGGGGCGA	G	A45990465G	COL6A1	NM_001848.2(COL6A1):c.1002+43_1002+52del	noncoding	Benign
21	45990464	GAATGGGGCGAGATGGGGAGGGACGGAGTGGACGGCGTGA	G	A45990466G	COL6A1	NM_001848.3(COL6A1):c.1002+44_1002+82del	noncoding	Benign
21	45990761	TCCTCTTTCCAGGGGG	GGA	T45990761G	COL6A1	NM_001848.2(COL6A1):c.1003-12_1006delinsGGA	noncoding	Pathogenic
21	45990770	CA	C	A45990771G	COL6A1	NM_001848.2(COL6A1):c.1003-2del	noncoding	Pathogenic
21	45990808	GGGCTCGCCCGGGTT	G	G45990809T	COL6A1	NM_001848.2(COL6A1):c.1039_1052del:p.Lys346_Gly347insTer	coding	Pathogenic
21	45990826	CG	C	G45990827T	COL6A1	NM_001848.2(COL6A1):c.1056+1del	coding	Pathogenic
21	45997137	CGGGCGCCCACCAAAGTCATCTGGGAGAGGCTTCACCCCTCCGTGGGGGCCTGAGGCACCAGCT	C	A45997149G	COL6A1	NM_001848.2(COL6A1):c.1399-272_1399-210del	noncoding	Benign
21	45997518	A	AG	C45997525G	COL6A1	NM_001848.3(COL6A1):c.1461+41dup	noncoding	Benign
21	45997702	TG	T	G45997703C	COL6A1	NM_001848.2(COL6A1):c.1465del:p.Ala489fs	coding	Pathogenic
21	45998412	CA	C	A45998413G	COL6A1	NM_001848.3(COL6A1):c.1591del:p.Arg531fs	coding	Pathogenic
21	45998922	AGG	A	G45998926A	COL6A1	NM_001848.2(COL6A1):c.1641_1642del:p.Asp548fs	coding	Pathogenic
21	45999004	C	CCA	G45999007C	COL6A1	NM_001848.2(COL6A1):c.1674+46_1674+47dup	noncoding	Benign
21	45999198	C	CG	T45999203G	COL6A1	NM_001848.3(COL6A1):c.1724dup:p.Pro576fs	coding	Pathogenic
21	45999874	G	GA	G45999875A	COL6A1	NM_001848.2(COL6A1):c.1776+182_1776+183insA	noncoding	Benign
21	46002310	A	AC	A46002312C	COL6A1	NM_001848.2(COL6A1):c.2160dup:p.Asn721fs	coding	Pathogenic
21	46002695	GCCCAGATCTGCATAGGTGCGCATGGGGCCACCCGGGCAGT	G	A46002707G	COL6A1	NM_001848.2(COL6A1):c.2431_2434+36del	coding	Pathogenic
21	46002718	TGGGGCCACCCGGGCAGTCCCAGATCTGCGTAGGTGCGCGC	T	A46002725G	COL6A1	NM_001848.2(COL6A1):c.2434+15_2434+54del	noncoding	Benign/Likely_benign
21	46112044	T	TC	A46112050C	COL6A2	NM_001849.3(COL6A2):c.186dup:p.Thr63fs	coding	Pathogenic
21	46112392	G	GC	G46112395C	COL6A2	NM_001849.4(COL6A2):c.531dup:p.Glu178fs	coding	Pathogenic
21	46112503	AACGAC	A	A46112504T	COL6A2	NM_001849.3(COL6A2):c.641_645del:p.Asn214fs	coding	Pathogenic
21	46114000	CGTTTCAGTGCT	C	G46114001A	COL6A2	NM_001849.3(COL6A2):c.736-7_739del	noncoding	Pathogenic
21	46114065	GGACAGAAGGTAA	G	C46114068T	COL6A2	NM_001849.4(COL6A2):c.796_801+6del	coding	Pathogenic
21	46115897	CG	C	G46115900A	COL6A2	NM_001849.3(COL6A2):c.830del:p.Gly277fs	coding	Pathogenic
21	46116767	CA	C	A46116768G	COL6A2	NM_001849.4(COL6A2):c.955-2del	noncoding	Pathogenic
21	46117398	AG	CT	A46117398C	COL6A2	NM_001849.3(COL6A2):c.1000-2_1000-1inv	noncoding	Pathogenic
21	46117454	GT	G	T46117455A	COL6A2	NM_001849.3(COL6A2):c.1053+2del	noncoding	Pathogenic
21	46117875	GC	G	C46117879G	COL6A2	NM_001849.3(COL6A2):c.1059del:p.Asp354fs	coding	Pathogenic
21	46118643	G	GC	G46118649C	COL6A2	NM_001849.4(COL6A2):c.1151dup:p.Glu386fs	coding	Pathogenic
21	46119095	GC	G	C46119099G	COL6A2	NM_001849.4(COL6A2):c.1249del:p.Arg417fs	coding	Pathogenic
21	46120144	A	AC	A46120150C	COL6A2	NM_001849.3(COL6A2):c.1332+299dup	noncoding	Benign
21	46121049	CCTTTCTTCCA	C	C46121050G	COL6A2	NM_001849.3(COL6A2):c.1396-11_1396-2del	noncoding	Pathogenic
21	46121557	GA	G	A46121558T	COL6A2	NM_001849.3(COL6A2):c.1461del:p.Ser488fs	coding	Pathogenic/Likely_pathogenic
21	46121909	C	CT	G46121910T	COL6A2	NM_001849.3(COL6A2):c.1522-199_1522-198insT	noncoding	Benign
21	46122133	GC	G	C46122134T	COL6A2	NM_001849.4(COL6A2):c.1548del:p.Tyr517fs	coding	Pathogenic
21	46124895	GC	G	C46124901T	COL6A2	NM_001849.3(COL6A2):c.1751del:p.Pro584fs	coding	Pathogenic
21	46124919	CG	C	G46124921T	COL6A2	NM_001849.4(COL6A2):c.1770+1del	coding	Pathogenic/Likely_pathogenic
21	46125327	CG	C	G46125329C	COL6A2	NM_001849.4(COL6A2):c.1816+18del	noncoding	Benign/Likely_benign
21	46125455	A	AC	A46125463C	COL6A2	NM_001849.4(COL6A2):c.1817-3dup	noncoding	Benign
21	46125455	A	ACC	A46125463C	COL6A2	NM_001849.4(COL6A2):c.1817-4_1817-3dup	noncoding	Benign/Likely_benign
21	46125500	TTCGTCA	T	T46125504A	COL6A2	NM_001849.3(COL6A2):c.1856_1861del:p.Val619_Ile620del	coding	Pathogenic
21	46126070	TCA	T	C46126073G	COL6A2	NM_001849.4(COL6A2):c.2256_2257CA[1]:p.Thr753fs	coding	Pathogenic
21	46126098	CAT	C	A46126099G	COL6A2	NM_001849.3(COL6A2):c.2284_2285del:p.Met762fs	coding	Pathogenic
21	46126116	CGA	C	A46126120T	COL6A2	NM_001849.4(COL6A2):c.2305_2306del:p.Glu768_Ser769insTer	coding	Pathogenic
21	46126123	G	GA	C46126128A	COL6A2	NM_001849.3(COL6A2):c.2312dup:p.Asn771Lysfs	coding	Pathogenic
21	46132006	GGA	G	G46132007C	COL6A2	NM_001849.3(COL6A2):c.2515_2516del:p.Asp839fs	coding	Pathogenic
21	46132279	GCGCAGCCCGCGTGGCGGGGCCCGGAGGCA	G	C46132285A	COL6A2	NM_001849.4(COL6A2):c.2793_2821del:p.Ser931fs	coding	Pathogenic
21	46138498	GC	G	C46138504T	FTCD	NM_206965.2(FTCD):c.1443+9del	noncoding	Benign/Likely_benign
21	46256912	A	ACGCAGCAGGG	A46256933C	MCM3AP	NM_003906.5(MCM3AP):c.3789_3798CCCTGCTGCG[3]:p.Val1270fs	coding	Pathogenic
21	46270566	GTTAA	G	T46270571A	MCM3AP	NM_003906.5(MCM3AP):c.2466-7_2466-4del	noncoding	Benign
21	46284843	AG	A	G46284845T	MCM3AP	NM_003906.5(MCM3AP):c.443del:p.Pro148fs	coding	Pathogenic
21	46287125	T	TAAAAA	T46287136A	MCM3AP	NM_001314025.2(YBEY):c.210+8_210+12dup	noncoding	Benign
21	46302071	A	ATGG	C46302095G	C21orf58	NM_058180.4(C21orf58):c.876_878CCA[8]:p.His299dup	coding	Benign
21	46324123	CG	C	G46324129A	PCNT	NM_006031.5(PCNT):c.-100delG	noncoding	Benign
21	46346863	C	CG	A46346867G	PCNT	NM_006031.6(PCNT):c.844dup:p.Glu282fs	coding	Pathogenic
21	46351518	GA	G	A46351519C	PCNT	NM_006031.6(PCNT):c.1435del:p.Thr479fs	coding	Pathogenic
21	46353169	G	GA	C46353176A	PCNT	NM_006031.6(PCNT):c.1528dup:p.Thr510fs	coding	Pathogenic
21	46354018	GAGAA	G	A46354021G	PCNT	NM_006031.6(PCNT):c.1714_1717del:p.Lys572fs	coding	Pathogenic
21	46355576	CA	C	A46355577G	PCNT	NM_006031.6(PCNT):c.1887del:p.Ala630fs	coding	Pathogenic
21	46357008	C	CG	A46357013G	PCNT	NM_006031.6(PCNT):c.1975dup:p.Asp659fs	coding	Pathogenic
21	46366954	CGAGCAGACTTT	C	C46366958G	PCNT	NM_006031.6(PCNT):c.2984_2994del:p.Ala995fs	coding	Pathogenic
21	46388844	C	CT	G46388846T	PCNT	NM_006031.6(PCNT):c.3568dup:p.Cys1190fs	coding	Pathogenic
21	46388870	T	TGGCCC	T46388876G	PCNT	NM_006031.6(PCNT):c.3594_3598dup:p.Leu1200fs	coding	Pathogenic
21	46401692	CAG	C	A46401697C	PCNT	NM_006031.6(PCNT):c.4934_4935AG[2]:p.Arg1646fs	coding	Pathogenic
21	46411793	AGCAGCCCCTG	A	C46411800G	PCNT	NM_006031.6(PCNT):c.5727_5736del:p.Leu1910fs	coding	Pathogenic
21	46416281	CAT	C	A46416284C	PCNT	NM_006031.6(PCNT):c.6364_6365AT[1]:p.Ser2123fs	coding	Pathogenic
21	46418198	T	TATCTG	A46418200T	PCNT	NM_006031.6(PCNT):c.6922-5_6922-4insTCTGA	noncoding	Benign
21	46430114	CT	C	T46430115G	PCNT	NM_006031.6(PCNT):c.7796del:p.Leu2599fs	coding	Pathogenic
21	46431686	CTG	C	T46431687A	PCNT	NM_006031.6(PCNT):c.8223_8224del:p.Glu2742fs	coding	Pathogenic
21	46436019	C	CT	G46436021T	PCNT	NM_006031.6(PCNT):c.8868dup:p.Ala2957fs	coding	Pathogenic
21	46440024	C	CT	A46440026T	PCNT	NM_006031.6(PCNT):c.9274-58dup	noncoding	Benign
21	46440991	T	TG	T46440997G	PCNT	NM_006031.6(PCNT):c.9535dup:p.Val3179fs	coding	Pathogenic
22	17097797	G	GTACC	G17097803A	IL17RA	NM_014339.6(IL17RA):c.166_169dup:p.Cys57fs	coding	Pathogenic
22	17097865	AT	A	T17097866C	IL17RA	NM_014339.7(IL17RA):c.233del:p.Ile78fs	coding	Pathogenic
22	17097899	AC	A	C17097901T	IL17RA	NM_014339.6(IL17RA):c.268del:p.Leu90fs	coding	Pathogenic
22	17103494	CCCAGA	C	C17103500A	IL17RA	NM_001289905.1(IL17RA):c.764_768CCAGA[1]:p.Pro257fs	coding	Pathogenic
22	17104813	AG	A	G17104817A	IL17RA	NM_014339.7(IL17RA):c.931+7del	noncoding	Benign
22	17108516	A	AAGCAGGAGATGGTGGAG	A17108538G	IL17RA	NM_014339.6(IL17RA):c.1302_1318dup:p.Asn440fs	coding	Pathogenic
22	17113082	AG	A	G17113085T	IL17RA	NM_014339.6(IL17RA):c.*3265del	noncoding	Benign
22	17115587	G	GA	T17115600A	IL17RA	NM_014339.6(IL17RA):c.*5779dup	noncoding	Benign
22	17203651	GGTGC	G	G17203654A	ADA2	NM_001282225.2(ADA2):c.661_664del:p.Ala221fs	coding	Pathogenic
22	17209406	TG	T	G17209407C	ADA2	NM_001282225.2(ADA2):c.271del:p.His91fs	coding	Pathogenic
22	17209533	GC	G	C17209540A	ADA2	NM_001282225.2(ADA2):c.144del:p.Arg49fs	coding	Pathogenic
22	17209533	G	GC	A17209541C	ADA2	NM_001282225.2(ADA2):c.144dup:p.Arg49fs	coding	Pathogenic/Likely_pathogenic
22	18078404	G	GC	T18078411C	PEX26	NM_001127649.3(PEX26):c.34dup:p.Leu12fs	coding	Pathogenic
22	18078554	CG	A	C18078554A	PEX26	NM_001127649.3(PEX26):c.178_179delinsA:p.Ala61fs	coding	Pathogenic
22	18079896	C	CT	G18079898T	PEX26	NM_001127649.3(PEX26):c.254dup:p.Cys86fs	coding	Pathogenic
22	18079991	AC	A	C18079997A	PEX26	NM_001127649.3(PEX26):c.354del:p.Val120fs	coding	Pathogenic
22	18089605	C	CTTGG	G18089611T	PEX26	NM_001127649.3(PEX26):c.*1532_*1535dup	noncoding	Benign
22	18121454	CCTCGTTGCTTCCCT	C	G18121458C	TUBA8	NM_018943.3(TUBA8):c.4-21_4-8del	noncoding	Pathogenic
22	18124323	GGGA	G	G18124324C	TUBA8	NM_018943.3(TUBA8):c.375+20_375+22del	noncoding	Benign
22	19177119	CCTTGTTCCCG	C	T19177121A	SLC25A1	NM_005984.5(SLC25A1):c.517_526del:p.Arg173fs	coding	Pathogenic/Likely_pathogenic
22	19183486	AAGCAGGTCAT	A	C19183494G	CLTCL1	NM_007098.4(CLTCL1):c.4721_4730del:p.Tyr1574fs	coding	Benign
22	19201492	A	AC	T19201495C	CLTCL1	NM_007098.4(CLTCL1):c.3601-1dup	coding	Benign
22	19482810	G	GTATA	C19482815T	CDC45	NM_001178011.2(CDC45):c.205-1051TA[4]	coding	Pathogenic
22	19760927	CAGCCTGGGGGCCGCGGGGGGCTTCCCGGGCGCCGCGTCGCCCGGCGCCGACCCGTACGGCCCGCGCGAGCCCCCGCCGCCGCCGCCGCGCTACGACCCGTGCGCCGCCGCCGCCCCCGGCGCCCCGGGCCCGCCGCCGCCGCCGCACGCCTACCCGTTTGCGCCGGCCGCCGGGGCCGCCACCAGCGCCGCCGCCG	C	T19760932C	TBX1	NM_001379200.1(TBX1):c.89_284del:p.Leu30fs	coding	Pathogenic
22	19761030	GCCGCCGCCGCCCCCGGCGCCCCGGGC	G	C19761042G	TBX1	NM_001379200.1(TBX1):c.199_224del:p.Pro67fs	coding	Pathogenic
22	19761056	C	CCCG	A19761073C	TBX1	NM_005992.1(TBX1):c.188_190CGC[6]:p.Pro67dup	coding	Benign
22	19761172	TGAA	T	G19761179C	TBX1	NM_080647.1(TBX1):c.309_311del	coding	Benign
22	19763327	A	ACGAT	A19763332C	TBX1	NM_080647.1(TBX1):c.498_501dup:p.Lys168delinsArgTer	coding	Pathogenic
22	19764266	GC	G	C19764267A	TBX1	NM_001379200.1(TBX1):c.652del:p.Gln218fs	coding	Pathogenic
22	19765972	TC	T	C19765976G	TBX1	NM_080647.1(TBX1):c.983del:p.Pro328fs	coding	Pathogenic
22	19766551	G	GCCGGCCCAGTCCCCCGAACC	A19766575G	TBX1	NM_080647.1(TBX1):c.1176_1195dup:p.Glu399fs	coding	Pathogenic
22	19766561	TC	T	C19766566G	TBX1	NM_080647.1(TBX1):c.1187del:p.Pro396fs	coding	Pathogenic
22	19766601	TC	T	C19766602G	TBX1	NM_080647.1(TBX1):c.1223del:p.Ser408fs	coding	Pathogenic
22	19880732	AG	A	G19880738C	TXNRD2	NM_006440.5(TXNRD2):c.1087-16del	noncoding	Benign
22	19915195	AT	A	T19915196G	TXNRD2	NM_006440.5(TXNRD2):c.591+18del	noncoding	Benign
22	19968739	G	GC	G19968747C	COMT	NM_000754.3(COMT):c.*10dup	noncoding	Benign
22	20036801	GT	G	T20036802G	TANGO2	NM_152906.7(TANGO2):c.4del:p.Cys2fs	coding	Pathogenic
22	20036832	CCT	C	C20036833G	TANGO2	NM_152906.7(TANGO2):c.35_36del:p.Pro12fs	coding	Pathogenic
22	20425444	CT	C	T20425445G	SCARF2	NM_182895.5(SCARF2):c.2531del:p.Gln844fs	coding	Pathogenic
22	20425683	C	CG	C20425687G	SCARF2	NM_153334.6(SCARF2):c.2304dupC:p.Glu770Argfs	coding	Benign
22	20425735	G	GC	G20425738C	SCARF2	NM_182895.5(SCARF2):c.2240dup:p.Gly749fs	coding	Benign
22	20425741	G	GC	G20425746C	SCARF2	NM_182895.5(SCARF2):c.2234dup:p.Arg746fs	coding	Benign
22	20429630	TCA	T	A20429632G	SCARF2	NM_182895.5(SCARF2):c.1328_1329del:p.Val443fs	coding	Pathogenic
22	20431414	TCGCAGCGCGCGCCCCAG	T	A20431418C	SCARF2	NM_182895.5(SCARF2):c.441_457del:p.Trp148fs	coding	Pathogenic
22	20537211	C	CCCTA	G20537216C	MED15	NM_001003891.3(MED15):c.156+8_156+11dup	noncoding	Benign
22	20779632	A	AT	G20779634T	SERPIND1	NM_000185.4(SERPIND1):c.321dup:p.Val108fs	coding	Pathogenic
22	20786992	CTT	C	T20786995C	SERPIND1	NM_000185.4(SERPIND1):c.1429_1430del:p.Phe477fs	coding	Pathogenic
22	20858672	GCCGCCGCCGCCT	G	G20858678T	PI4KA	NM_058004.4(PI4KA):c.42_53del:p.Gly15_Gly18del	coding	Benign
22	20858678	GCCGCCT	G	G20858699C	PI4KA	NM_058004.4(PI4KA):c.24_29AGGCGG[3]:p.Gly17_Gly18del	coding	Benign
22	20858678	G	GCCGCCT	C20858705G	PI4KA	NM_058004.4(PI4KA):c.24_29AGGCGG[5]:p.Gly17_Gly18dup	coding	Benign
22	20858678	G	GCCGCCTCCGCCT	C20858705G	PI4KA	NM_058004.4(PI4KA):c.24_29AGGCGG[6]:p.Gly15_Gly18dup	coding	Benign
22	20859329	TG	T	G20859333T	SNAP29	NM_004782.4(SNAP29):c.223del:p.Val75fs	coding	Pathogenic/Likely_pathogenic
22	20881100	C	CA	G20881102A	SNAP29	NM_004782.4(SNAP29):c.487dup:p.Ser163fs	coding	Pathogenic
22	20982391	CG	C	G20982398C	LZTR1	NM_006767.4(LZTR1):c.27del:p.Gln10fs	coding	Pathogenic
22	20983089	GGTGA	G	G20983096C	LZTR1	NM_006767.4(LZTR1):c.263+7_263+10del	coding	Benign
22	20985896	AG	A	G20985898T	LZTR1	NM_006767.4(LZTR1):c.320+1del	coding	Pathogenic
22	20987482	ACCACCCCTGTGC	A	T20987490A	LZTR1	NM_006767.4(LZTR1):c.321-14_321-3del	noncoding	Benign
22	20988007	CAG	C	A20988008G	LZTR1	NM_006767.4(LZTR1):c.401-2_401-1del	noncoding	Pathogenic
22	20988065	CTT	C	T20988067G	LZTR1	NM_006767.4(LZTR1):c.458_459del:p.Leu152_Phe153insTer	coding	Pathogenic
22	20989676	GGAGGAGGTGAGGGGCGTGGGGAGCCAGGGCGCAGGTA	G	G20989692A	LZTR1	NM_006767.4(LZTR1):c.651+10_651+46del	coding	Benign/Likely_benign
22	20990505	GT	G	T20990508G	LZTR1	NM_006767.4(LZTR1):c.774del:p.Phe258fs	coding	Pathogenic/Likely_pathogenic
22	20992248	CT	C	T20992250C	LZTR1	NM_006767.4(LZTR1):c.1030del:p.Ser344fs	coding	Pathogenic/Likely_pathogenic
22	20992324	CT	C	T20992327G	LZTR1	NM_006767.4(LZTR1):c.1107del:p.Phe369fs	coding	Pathogenic
22	20993940	A	AG	C20993944G	LZTR1	NM_006767.4(LZTR1):c.1373dup:p.His459fs	coding	Pathogenic
22	20994967	TTG	T	T20994970C	LZTR1	NM_006767.4(LZTR1):c.1884_1885TG[1]:p.Val629fs	coding	Pathogenic
22	20996702	GT	G	T20996705G	LZTR1	NM_006767.4(LZTR1):c.2229del:p.Phe743fs	coding	Pathogenic/Likely_pathogenic
22	20996777	CG	C	G20996778T	LZTR1	NM_006767.4(LZTR1):c.2302del:p.Asn767_Val768insTer	coding	Pathogenic
22	20996906	AACGC	A	C20996908G	LZTR1	NM_006767.4(LZTR1):c.2348_2351del:p.Thr783fs	coding	Pathogenic
22	23787353	ATCGGGGCGGGCGGGCGCGCGCGCGCGCGC	A	G23787361T	SMARCB1	NM_003073.5(SMARCB1):c.93+99_93+127del	noncoding	Benign
22	23791797	G	GAGAT	C23791803G	SMARCB1	NM_003073.5(SMARCB1):c.137_140dup:p.Tyr47Ter	coding	Pathogenic
22	23791821	AC	TATCTGGAGGCG	A23791821T	SMARCB1	NM_003073.5(SMARCB1):c.159_160delinsTATCTGGAGGCG:p.Leu54fs	coding	Pathogenic
22	23791835	AAG	A	A23791840G	SMARCB1	NM_003073.5(SMARCB1):c.174_175AG[2]:p.Arg60fs	coding	Pathogenic
22	23791865	ATGGTAAAAAAACA	TACC	A23791865T	SMARCB1	NM_003073.5(SMARCB1):c.203_216delinsTACC:p.His68fs	coding	Pathogenic
22	23793591	AC	A	C23793594T	SMARCB1	NM_003073.5(SMARCB1):c.268del:p.Leu90fs	coding	Pathogenic
22	23793671	GC	G	C23793677A	SMARCB1	NM_003073.5(SMARCB1):c.351del:p.Thr118fs	coding	Pathogenic
22	23793671	G	GC	A23793678C	SMARCB1	NM_003073.5(SMARCB1):c.351dup:p.Thr118fs	coding	Pathogenic
22	23801072	TC	T	C23801077T	SMARCB1	NM_003073.5(SMARCB1):c.496del:p.Leu166fs	coding	Pathogenic
22	23803382	TG	T	G23803385C	SMARCB1	NM_003073.5(SMARCB1):c.591del:p.Gln198fs	coding	Pathogenic
22	23816783	GC	G	C23816785T	SMARCB1	NM_003073.5(SMARCB1):c.644del:p.Pro215fs	coding	Pathogenic
22	23825238	TG	T	G23825241A	SMARCB1	NM_003073.5(SMARCB1):c.812del:p.Gly271fs	coding	Pathogenic
22	23825379	GA	G	A23825380C	SMARCB1	NM_003073.5(SMARCB1):c.951del:p.Gln318fs	coding	Pathogenic
22	23825397	AGAAGACCT	A	G23825398A	SMARCB1	NM_003073.5(SMARCB1):c.969_976del:p.Lys324fs	coding	Pathogenic
22	23833634	G	GC	A23833638C	SMARCB1	NM_003073.5(SMARCB1):c.1052dup:p.Leu352fs	coding	Pathogenic
22	23833669	GAGA	G	A23833676T	SMARCB1	NM_003073.5(SMARCB1):c.1085_1087AGA[2]:p.Lys364del	coding	Pathogenic
22	23834293	C	CG	T23834297G	SMARCB1	NM_003073.5(SMARCB1):c.*116dup	noncoding	Benign
22	24322177	GATACAC	G	A24322178C	SPECC1L	NM_015330.5(SPECC1L):c.1198_1203del:p.Ile400_His401del	coding	Pathogenic
22	24526079	T	TA	T24526091A	UPB1	NM_016327.3(UPB1):c.*296dup	noncoding	Benign
22	26451986	ACGCGCGCGCG	A	G26451996A	HPS4	NM_022081.6(HPS4):c.*1229CG[4]	noncoding	Benign
22	26453266	C	CTGCTT	C26453280T	HPS4	NM_022081.6(HPS4):c.2089_2093dup:p.Lys699fs	coding	Pathogenic
22	26457947	TG	T	G26457949C	HPS4	NM_022081.6(HPS4):c.1866del:p.Thr623fs	coding	Pathogenic
22	26464569	GA	CT	G26464569C	HPS4	NM_152841.2(HPS4):c.1045_1046delinsAG:p.Ser349=	coding	Benign/Likely_benign
22	26464657	T	TCTCCTTCCTGCCATCTGGACAAGC	T26464682C	HPS4	NM_022081.6(HPS4):c.949_972dup:p.Ala317_Glu324dup	coding	Pathogenic
22	26470760	G	GC	G26470762C	HPS4	NM_022081.6(HPS4):c.554dup:p.Ser186fs	coding	Pathogenic
22	26472356	G	GT	C26472362T	HPS4	NM_022081.6(HPS4):c.446dup:p.Asn149fs	coding	Pathogenic
22	26479339	GA	G	A26479346T	HPS4	NM_022081.6(HPS4):c.57del:p.Leu20fs	coding	Pathogenic
22	26479339	G	GA	T26479347A	HPS4	NM_022081.6(HPS4):c.57dup:p.Leu20fs	coding	Pathogenic
22	26483980	GGAGGCGGCGCCCCGGGGGAGA	G	G26484019C	HPS4	NM_001013694.3(SRRD):c.108GAGAGAGGCGGCGCCCCGGGG[1]:p.30REAAPRG[2]	coding	Benign
22	26599663	AG	A	G26599664C	CRYBB1	NM_001887.4(CRYBB1):c.585del:p.Tyr196fs	coding	Pathogenic
22	26616148	TC	T	C26616151A	CRYBB1	NM_001887.4(CRYBB1):c.171del:p.Asn58fs	coding	Pathogenic/Likely_pathogenic
22	27750977	AG	A	G27750979T	MN1	NM_002430.3(MN1):c.3900del:p.Trp1301fs	coding	Pathogenic
22	27750998	C	CCTTGGCGTCA	C27751010T	MN1	NM_002430.3(MN1):c.3870_3879dup:p.Ala1294Ter	coding	Pathogenic/Likely_pathogenic
22	27751028	GGACA	G	A27751034G	MN1	NM_002430.3:c.3846_3849del	coding	Pathogenic
22	27798673	T	TGCG	C27798680G	MN1	NM_002430.3(MN1):c.1865_1867CGC[3]:p.Pro623dup	coding	Benign
22	27798924	T	TTGC	T27798945C	MN1	NM_002430.3(MN1):c.1602_1604GCA[7]:p.Gln550dup	coding	Benign
22	28687982	GAAGGCTGAAAATA	G	C28687987A	CHEK2	NM_007194.4(CHEK2):c.1543-9_1546del	coding	Pathogenic
22	28689173	C	CCT	A28689177T	CHEK2	NM_007194.4(CHEK2):c.1502_1503dup:p.Glu502fs	coding	Pathogenic/Likely_pathogenic
22	28689175	TC	T	C28689176A	CHEK2	NM_007194.4(CHEK2):c.1501del:p.Glu501fs	coding	Pathogenic/Likely_pathogenic
22	28689184	AG	A	G28689185A	CHEK2	NM_007194.4(CHEK2):c.1492del:p.Leu498fs	coding	Pathogenic
22	28689187	TC	T	C28689188T	CHEK2	NM_007194.4(CHEK2):c.1489del:p.Asp497fs	coding	Pathogenic/Likely_pathogenic
22	28689193	AAC	A	A28689194T	CHEK2	NM_007194.4(CHEK2):c.1482_1483del:p.Lys494fs	coding	Pathogenic
22	28689195	CT	C	T28689198C	CHEK2	NM_007194.4(CHEK2):c.1481del:p.Lys494fs	coding	Pathogenic
22	28694037	G	GC	A28694040C	CHEK2	NM_007194.4(CHEK2):c.1455dup:p.Leu486fs	coding	Pathogenic/Likely_pathogenic
22	28694041	CG	C	G28694044T	CHEK2	NM_007194.4(CHEK2):c.1451del:p.Pro484fs	coding	Pathogenic
22	28694048	CTT	C	T28694049A	CHEK2	NM_007194.4(CHEK2):c.1443_1444del:p.Arg482fs	coding	Pathogenic
22	28694058	CT	C	T28694060C	CHEK2	NM_007194.4(CHEK2):c.1434del:p.Glu479fs	coding	Pathogenic
22	28694062	TG	T	G28694063T	CHEK2	NM_007194.4(CHEK2):c.1430del:p.Thr477fs	coding	Pathogenic
22	28694092	CA	C	A28694094C	CHEK2	NM_007194.4(CHEK2):c.1400del:p.Leu467fs	coding	Pathogenic
22	28695129	TTC	T	C28695133G	CHEK2	NM_007194.4(CHEK2):c.1371_1372del:p.Lys458fs	coding	Pathogenic
22	28695133	C	CT	G28695135T	CHEK2	NM_007194.4(CHEK2):c.1368dup:p.Glu457fs	coding	Pathogenic/Likely_pathogenic
22	28695133	CT	C	T28695134G	CHEK2	NM_007194.4(CHEK2):c.1368del:p.Glu457fs	coding	Pathogenic
22	28695140	TTC	T	C28695142G	CHEK2	NM_007194.4(CHEK2):c.1360_1361del:p.Glu454fs	coding	Pathogenic
22	28695151	CTT	C	T28695152C	CHEK2	NM_007194.4(CHEK2):c.1349_1350del:p.Glu450fs	coding	Pathogenic/Likely_pathogenic
22	28695154	CA	C	A28695155G	CHEK2	NM_007194.4(CHEK2):c.1347del:p.Glu450fs	coding	Pathogenic
22	28695157	GA	G	A28695159T	CHEK2	NM_007194.4(CHEK2):c.1344del:p.Pro449fs	coding	Pathogenic
22	28695164	GT	G	T28695166G	CHEK2	NM_007194.4(CHEK2):c.1337del:p.Asn446fs	coding	Pathogenic/Likely_pathogenic
22	28695166	TG	GT	T28695166G	CHEK2	NM_007194.4(CHEK2):c.1335_1336delinsAC:p.Tyr445_Asn446delinsTer	coding	Pathogenic
22	28695167	G	GT	A28695169T	CHEK2	NM_007194.4(CHEK2):c.1334dup:p.Tyr445Ter	coding	Pathogenic
22	28695178	TG	T	G28695180T	CHEK2	NM_007194.4(CHEK2):c.1323del:p.Ser442fs	coding	Pathogenic
22	28695202	CTT	C	T28695203G	CHEK2	NM_007194.4(CHEK2):c.1298_1299del:p.Gln433fs	coding	Pathogenic
22	28695211	T	TA	T28695213A	CHEK2	NM_007194.4(CHEK2):c.1290dup:p.Arg431Ter	coding	Pathogenic
22	28695238	TA	T	A28695240G	CHEK2	NM_007194.4(CHEK2):c.1263del:p.Ser422fs	coding	Pathogenic/Likely_pathogenic
22	28695714	TA	T	A28695719G	CHEK2	NM_007194.4(CHEK2):c.1254del:p.Phe418fs	coding	Pathogenic/Likely_pathogenic
22	28695723	TAACTCCTA	CTCCT	T28695723C	CHEK2	NM_007194.4(CHEK2):c.1238_1246delinsAGGAG:p.Leu413_Ile416delinsTer	coding	Pathogenic
22	28695730	TA	T	A28695733C	CHEK2	NM_007194.4(CHEK2):c.1238del:p.Ser412_Leu413insTer	coding	Pathogenic
22	28695731	AAACTCCAGCAGTCCAC	A	A28695733G	CHEK2	NM_007194.4(CHEK2):c.1222_1237del:p.Ala407_Val408insTer	coding	Pathogenic
22	28695735	TCCAGCAGTCCACAGCACGGTTATAC	T	A28695746C	CHEK2	NM_007194.4(CHEK2):c.1209_1233del:p.Tyr404fs	coding	Pathogenic
22	28695749	GCACGGTTATA	G	A28695751C	CHEK2	NM_007194.4(CHEK2):c.1210_1219del:p.Tyr404fs	coding	Pathogenic
22	28695758	T	TAA	C28695760A	CHEK2	NM_007194.4(CHEK2):c.1210_1211insTT:p.Tyr404fs	coding	Pathogenic
22	28695771	CA	C	A28695773C	CHEK2	NM_007194.4(CHEK2):c.1197del:p.Thr401fs	coding	Pathogenic
22	28695771	C	CA	C28695774A	CHEK2	NM_007194.4(CHEK2):c.1197dup:p.Gly400fs	coding	Pathogenic
22	28695774	C	CAGAAACA	C28695786A	CHEK2	NM_007194.4(CHEK2):c.1188_1194dup:p.Val399fs	coding	Pathogenic
22	28695775	AG	A	G28695776A	CHEK2	NM_007194.4(CHEK2):c.1193del:p.Ser398fs	coding	Pathogenic
22	28695780	CA	C	A28695782G	CHEK2	NM_007194.4(CHEK2):c.1188del:p.Val397fs	coding	Pathogenic/Likely_pathogenic
22	28695804	TG	T	G28695809T	CHEK2	NM_007194.4(CHEK2):c.1164del:p.Thr389fs	coding	Pathogenic/Likely_pathogenic
22	28695804	T	TGG	T28695810G	CHEK2	NM_007194.4(CHEK2):c.1163_1164dup:p.Thr389fs	coding	Pathogenic
22	28695804	T	TG	T28695810G	CHEK2	NM_007194.4(CHEK2):c.1164dup:p.Thr389fs	coding	Pathogenic
22	28695826	CATGAGAGAGG	C	A28695827T	CHEK2	NM_007194.4(CHEK2):c.1133_1142del:p.Thr378fs	coding	Pathogenic
22	28695828	TGA	T	A28695834G	CHEK2	NM_007194.4(CHEK2):c.1135_1136TC[2]:p.Leu380fs	coding	Pathogenic
22	28695834	AG	A	G28695836T	CHEK2	NM_007194.4(CHEK2):c.1134del:p.Ser379fs	coding	Pathogenic
22	28695840	CT	C	T28695841C	CHEK2	NM_007194.4(CHEK2):c.1128del:p.Glu377fs	coding	Pathogenic
22	28695841	T	TCCCAAAATCTTGGAGTG	A28695868T	CHEK2	NM_007194.4(CHEK2):c.1111_1127dup:p.Glu377fs	coding	Pathogenic
22	28695850	C	CT	G28695853T	CHEK2	NM_007194.4(CHEK2):c.1118dup:p.Ile374fs	coding	Pathogenic
22	28695852	T	TG	A28695855G	CHEK2	NM_007194.4(CHEK2):c.1116dup:p.Lys373fs	coding	Pathogenic
22	28695867	CAG	C	A28695868T	CHEK2	NM_007194.4(CHEK2):c.1100_1101del:p.Thr367fs	coding	Pathogenic
22	28695872	AT	A	T28695873C	CHEK2	NM_007194.4(CHEK2):c.1096del:p.Ile366fs	coding	Pathogenic/Likely_pathogenic
22	28696903	TTATA	T	T28696904A	CHEK2	NM_007194.4(CHEK2):c.1089_1092del:p.Ile364fs	coding	Pathogenic
22	28696932	AG	A	G28696933T	CHEK2	NM_007194.4(CHEK2):c.1063del:p.Leu355fs	coding	Pathogenic
22	28696945	CT	C	T28696946G	CHEK2	NM_007194.4(CHEK2):c.1050del:p.Glu351fs	coding	Pathogenic
22	28696946	TG	T	G28696948C	CHEK2	NM_007194.4(CHEK2):c.1049del:p.Pro350fs	coding	Pathogenic
22	28696961	GTGTATAATACCGTTTT	G	T28696962C	CHEK2	NM_007194.4(CHEK2):c.1019_1034del:p.Glu340fs	coding	Pathogenic
22	28696973	GT	G	T28696977C	CHEK2	NM_007194.4(CHEK2):c.1022del:p.Asn341fs	coding	Pathogenic
22	28699838	CT	C	T28699839G	CHEK2	NM_007194.4(CHEK2):c.1007del:p.Gln336fs	coding	Pathogenic
22	28699850	GA	G	A28699851G	CHEK2	NM_007194.4(CHEK2):c.995del:p.Leu332fs	coding	Pathogenic
22	28699855	TC	T	C28699856T	CHEK2	NM_007194.4(CHEK2):c.990del:p.Met331fs	coding	Pathogenic
22	28699856	CT	C	T28699857G	CHEK2	NM_007194.4(CHEK2):c.989del:p.Gln330fs	coding	Pathogenic
22	28699860	TA	T	A28699865T	CHEK2	NM_007194.4(CHEK2):c.985del:p.Tyr329fs	coding	Pathogenic
22	28699866	T	TA	G28699868A	CHEK2	NM_007194.4(CHEK2):c.979dup:p.Tyr327fs	coding	Pathogenic
22	28699871	CT	C	T28699873G	CHEK2	NM_007194.4(CHEK2):c.974del:p.Lys325fs	coding	Pathogenic
22	28699873	T	TGCAGGTA	T28699883A	CHEK2	NM_007194.4(CHEK2):c.966_972dup:p.Lys325fs	coding	Pathogenic
22	28699874	GC	G	C28699875A	CHEK2	NM_007194.4(CHEK2):c.971del:p.Cys324fs	coding	Pathogenic
22	28699882	CT	C	T28699884C	CHEK2	NM_007194.4(CHEK2):c.963del:p.Ala322fs	coding	Pathogenic
22	28699893	CG	C	G28699894T	CHEK2	NM_007194.4(CHEK2):c.952del:p.Arg318fs	coding	Pathogenic
22	28699897	TA	T	A28699898T	CHEK2	NM_007194.4(CHEK2):c.948del:p.Asn316fs	coding	Pathogenic
22	28699900	TC	T	C28699904A	CHEK2	NM_007194.4(CHEK2):c.945del:p.Asn316fs	coding	Pathogenic
22	28699900	T	TC	A28699905C	CHEK2	NM_007194.4(CHEK2):c.945dup:p.Asn316fs	coding	Pathogenic
22	28699907	CA	C	A28699908C	CHEK2	NM_007194.4(CHEK2):c.938del:p.Val313fs	coding	Pathogenic
22	28699925	TC	T	C28699930T	CHEK2	NM_007194.4(CHEK2):c.920del:p.Gly307fs	coding	Pathogenic
22	28699925	T	TC	T28699931C	CHEK2	NM_007194.4(CHEK2):c.920dup:p.Glu308fs	coding	Pathogenic
22	28703506	AT	A	T28703508C	CHEK2	NM_007194.4(CHEK2):c.906del:p.Glu302fs	coding	Pathogenic
22	28703510	CA	C	A28703514C	CHEK2	NM_007194.4(CHEK2):c.902del:p.Leu301fs	coding	Pathogenic/Likely_pathogenic
22	28703515	CAATAT	C	T28703520A	CHEK2	NM_007194.4(CHEK2):c.893_897del:p.Tyr298fs	coding	Pathogenic
22	28703533	CA	C	A28703534T	CHEK2	NM_007194.4(CHEK2):c.879del:p.Asp293fs	coding	Pathogenic
22	28703536	CAA	C	A28703541G	CHEK2	NM_007194.4(CHEK2):c.875_876del:p.Phe291_Phe292insTer	coding	Pathogenic
22	28703536	CA	C	A28703542G	CHEK2	NM_007194.4(CHEK2):c.876del:p.Phe292fs	coding	Pathogenic
22	28703536	C	CA	G28703543A	CHEK2	NM_007194.4(CHEK2):c.876dup:p.Asp293Ter	coding	Pathogenic
22	28703542	A	AGTAG	T28703545A	CHEK2	NM_007194.4(CHEK2):c.870_871insCTAC:p.Phe291fs	coding	Pathogenic
22	28703542	AG	A	G28703543T	CHEK2	NM_007194.4(CHEK2):c.870del:p.Phe292fs	coding	Pathogenic
22	28703543	GT	G	T28703548A	CHEK2	NM_007194.4(CHEK2):c.869del:p.Asn290fs	coding	Pathogenic
22	28703552	CT	C	T28703554G	CHEK2	NM_007194.4(CHEK2):c.860del:p.Lys287fs	coding	Pathogenic/Likely_pathogenic
22	28710009	A	AT	A28710013T	CHEK2	NM_007194.4(CHEK2):c.842dup:p.Asn281fs	coding	Pathogenic
22	28710028	TC	T	C28710029T	CHEK2	NM_007194.4(CHEK2):c.823del:p.Glu275fs	coding	Pathogenic
22	28710033	TTC	T	C28710035G	CHEK2	NM_007194.4(CHEK2):c.817_818del:p.Glu273fs	coding	Pathogenic
22	28710044	CAT	C	A28710045T	CHEK2	NM_007194.4(CHEK2):c.806_807del:p.Asn269fs	coding	Pathogenic
22	28710047	TGA	T	A28710051C	CHEK2	NM_007194.4(CHEK2):c.803_804del:p.Leu268fs	coding	Pathogenic
22	28711916	CTT	C	T28711917G	CHEK2	NM_007194.4(CHEK2):c.783_784del:p.Glu263fs	coding	Pathogenic
22	28711924	AC	A	C28711926A	CHEK2	NM_007194.4(CHEK2):c.776del:p.Gly259fs	coding	Pathogenic
22	28711938	TC	T	C28711940T	CHEK2	NM_007194.4(CHEK2):c.762del:p.Lys255fs	coding	Pathogenic
22	28711938	T	TC	T28711941C	CHEK2	NM_007194.4(CHEK2):c.762dup:p.Lys255fs	coding	Pathogenic
22	28711964	ACTTT	A	T28711968A	CHEK2	NM_007194.4(CHEK2):c.733_736del:p.Lys244_Lys245insTer	coding	Pathogenic
22	28711973	CAT	C	A28711974G	CHEK2	NM_007194.4(CHEK2):c.726_727del:p.Thr242_Cys243insTer	coding	Pathogenic
22	28711994	AG	A	G28711995C	CHEK2	NM_007194.4(CHEK2):c.706del:p.Leu236fs	coding	Pathogenic
22	28712001	C	TTAAA	C28712001T	CHEK2	NM_007194.4(CHEK2):c.700delinsTTTAA:p.Val234fs	coding	Pathogenic
22	28712004	C	CT	C28712006T	CHEK2	NM_007194.4(CHEK2):c.696dup:p.Glu233fs	coding	Pathogenic
22	28712006	CCACAGGCACCACTAGAGG	C	C28712007G	CHEK2	NM_007194.4(CHEK2):c.684-7_694del	coding	Pathogenic
22	28712007	C	CGGAG	A28712008G	CHEK2	NM_007194.4(CHEK2):c.693_694insCTCC:p.Gly232fs	coding	Pathogenic
22	28719404	G	GT	G28719410T	CHEK2	NM_007194.4(CHEK2):c.673dup:p.Thr225fs	coding	Pathogenic
22	28719404	GT	G	T28719409G	CHEK2	NM_007194.4(CHEK2):c.673del:p.Thr225fs	coding	Pathogenic
22	28719413	A	ATGAT	G28719418T	CHEK2	NM_007194.4(CHEK2):c.661_664dup:p.Met222fs	coding	Pathogenic/Likely_pathogenic
22	28719415	GATGT	G	G28719418T	CHEK2	NM_007194.4(CHEK2):c.659_662del:p.Tyr220fs	coding	Pathogenic
22	28719418	GTATTC	G	T28719419A	CHEK2	NM_007194.4(CHEK2):c.655_659del:p.Glu219fs	coding	Pathogenic
22	28719422	TC	T	C28719423A	CHEK2	NM_007194.4(CHEK2):c.655del:p.Glu219fs	coding	Pathogenic/Likely_pathogenic
22	28719445	AACTG	A	C28719451T	CHEK2	NM_007194.4(CHEK2):c.625_628CAGT[1]:p.Ser210fs	coding	Pathogenic/Likely_pathogenic
22	28719455	TC	T	C28719456A	CHEK2	NM_007194.4(CHEK2):c.622del:p.Asp208fs	coding	Pathogenic
22	28719456	CA	C	A28719457T	CHEK2	NM_007194.4(CHEK2):c.621del:p.Asp207fs	coding	Pathogenic
22	28719460	TAC	T	C28719462G	CHEK2	NM_007194.4(CHEK2):c.616_617del:p.Val206fs	coding	Pathogenic
22	28719471	CAA	C	A28719476G	CHEK2	NM_007194.4(CHEK2):c.605_606del:p.Phe201_Phe202insTer	coding	Pathogenic
22	28719471	CA	C	A28719477G	CHEK2	NM_007194.4(CHEK2):c.606del:p.Phe202fs	coding	Pathogenic/Likely_pathogenic
22	28719471	C	CA	G28719478A	CHEK2	NM_007194.4(CHEK2):c.606dup:p.Asp203Ter	coding	Pathogenic/Likely_pathogenic
22	28719477	AG	A	G28719478A	CHEK2	NM_007194.4(CHEK2):c.600del:p.Phe202fs	coding	Pathogenic
22	28719480	CA	C	A28719485C	CHEK2	NM_007194.4(CHEK2):c.597del:p.Phe199fs	coding	Pathogenic
22	28719491	GAAGAA	G	A28719496G	CHEK2	NM_007194.4(CHEK2):c.593-11_593-7del	noncoding	Benign/Likely_benign
22	28724977	CT	C	T28724980A	CHEK2	NM_007194.4(CHEK2):c.591del:p.Val198fs	coding	Pathogenic/Likely_pathogenic
22	28724987	GC	G	C28724988T	CHEK2	NM_007194.4(CHEK2):c.581del:p.Ser194fs	coding	Pathogenic
22	28724990	TAG	T	A28724991T	CHEK2	NM_007194.4(CHEK2):c.577_578del:p.Leu193fs	coding	Pathogenic
22	28725000	G	GCAATTTCAGAATTGTTATTCAAAGGT	A28725026T	CHEK2	NM_007194.4(CHEK2):c.568_569insACCTTTGAATAACAATTCTGAAATTG:p.Ala190delinsAspLeuTer	coding	Pathogenic
22	28725019	TCAAAGGA	T	A28725021G	CHEK2	NM_007194.4(CHEK2):c.543_549del:p.Pro182fs	coding	Pathogenic
22	28725031	GT	G	T28725035C	CHEK2	NM_007194.4(CHEK2):c.537del:p.Lys179fs	coding	Pathogenic
22	28725044	T	TA	C28725046A	CHEK2	NM_007194.4(CHEK2):c.524dup:p.Gly176fs	coding	Pathogenic
22	28725054	G	GT	A28725056T	CHEK2	NM_007194.4(CHEK2):c.514dup:p.Thr172fs	coding	Pathogenic
22	28725061	CA	C	A28725064G	CHEK2	NM_007194.4(CHEK2):c.507del:p.Phe169fs	coding	Pathogenic
22	28725074	GC	G	C28725076A	CHEK2	NM_007194.4(CHEK2):c.494del:p.Gly165fs	coding	Pathogenic
22	28725085	C	CTTCT	A28725090T	CHEK2	NM_007194.4(CHEK2):c.480_483dup:p.Asp162fs	coding	Pathogenic
22	28725090	AT	A	T28725091G	CHEK2	NM_007194.4(CHEK2):c.478del:p.Tyr159_Ile160insTer	coding	Pathogenic
22	28725096	GCAATGTAAGAGTTTTTAGGACC	G	A28725099C	CHEK2	NM_007194.4(CHEK2):c.451_472del:p.Gly151fs	coding	Pathogenic
22	28725100	TGTAA	T	T28725102A	CHEK2	NM_007194.4(CHEK2):c.465_468del:p.Tyr156fs	coding	Pathogenic
22	28725101	G	GT	A28725103T	CHEK2	NM_007194.4(CHEK2):c.467dup:p.Tyr156Ter	coding	Pathogenic
22	28725116	AC	A	C28725119A	CHEK2	NM_007194.4(CHEK2):c.452del:p.Gly151fs	coding	Pathogenic
22	28725119	CA	C	A28725120C	CHEK2	NM_007194.4(CHEK2):c.449del:p.Val150fs	coding	Pathogenic
22	28725120	AC	A	C28725121T	CHEK2	NM_007194.4(CHEK2):c.448del:p.Val150fs	coding	Pathogenic
22	28725241	AC	A	C28725244T	CHEK2	NM_007194.4(CHEK2):c.444+1del	noncoding	Pathogenic/Likely_pathogenic
22	28725253	CG	C	G28725254A	CHEK2	NM_007194.4(CHEK2):c.433del:p.Arg145fs	coding	Pathogenic
22	28725254	GA	G	A28725257G	CHEK2	NM_007194.4(CHEK2):c.432del:p.Arg145fs	coding	Pathogenic
22	28725281	AT	A	T28725284A	CHEK2	NM_007194.4(CHEK2):c.405del:p.Lys135fs	coding	Pathogenic
22	28725285	ATC	A	C28725287G	CHEK2	NM_007194.4(CHEK2):c.400_401del:p.Thr133_Asp134insTer	coding	Pathogenic
22	28725289	GT	G	T28725291C	CHEK2	NM_007194.4(CHEK2):c.397del:p.Thr133fs	coding	Pathogenic
22	28725303	TG	T	G28725305T	CHEK2	NM_007194.4(CHEK2):c.383del:p.Pro128fs	coding	Pathogenic
22	28725314	AG	A	G28725315C	CHEK2	NM_007194.4(CHEK2):c.372del:p.Phe125fs	coding	Pathogenic/Likely_pathogenic
22	28725320	AT	A	T28725322C	CHEK2	NM_007194.4(CHEK2):c.366del:p.Glu122fs	coding	Pathogenic
22	28725322	TC	T	C28725323A	CHEK2	NM_007194.4(CHEK2):c.364del:p.Glu122fs	coding	Pathogenic
22	28725326	AG	A	G28725327C	CHEK2	NM_007194.4(CHEK2):c.360del:p.Cys121fs	coding	Pathogenic
22	28725329	TTTTGTCCCTCCCAAACCAGT	C	T28725329C	CHEK2	NM_007194.4(CHEK2):c.338_358delinsG:p.Tyr113fs	coding	Pathogenic
22	28725359	TCA	T	C28725364T	CHEK2	NM_007194.4(CHEK2):c.322_323TG[2]:p.Val109fs	coding	Pathogenic
22	28725362	CACAT	C	A28725363T	CHEK2	NM_007194.4(CHEK2):c.321_324del:p.Glu107_Cys108insTer	coding	Pathogenic
22	28734416	TC	T	C28734418A	CHEK2	NM_007194.4(CHEK2):c.305del:p.Gly102fs	coding	Pathogenic
22	28734426	AG	A	G28734429C	CHEK2	NM_007194.4(CHEK2):c.295del:p.Leu99fs	coding	Pathogenic
22	28734429	GC	G	C28734432A	CHEK2	NM_007194.4(CHEK2):c.292del:p.Ala98fs	coding	Pathogenic
22	28734430	CCC	ACT	C28734430A	CHEK2	NM_007194.4(CHEK2):c.290_292delinsAGT:p.Trp97_Ala98delinsTer	coding	Pathogenic
22	28734439	GA	G	A28734440G	CHEK2	NM_007194.4(CHEK2):c.282del:p.Arg95fs	coding	Pathogenic/Likely_pathogenic
22	28734444	CA	C	A28734445G	CHEK2	NM_007194.4(CHEK2):c.277del:p.Trp93fs	coding	Pathogenic
22	28734445	A	AG	C28734451G	CHEK2	NM_007194.4(CHEK2):c.276dup:p.Trp93fs	coding	Pathogenic/Likely_pathogenic
22	28734445	AG	A	G28734450C	CHEK2	NM_007194.4(CHEK2):c.276del:p.Trp93fs	coding	Pathogenic
22	28734452	A	AG	T28734457G	CHEK2	NM_007194.4(CHEK2):c.269dup:p.Ala91fs	coding	Pathogenic
22	28734452	AG	A	G28734456T	CHEK2	NM_007194.4(CHEK2):c.269del:p.Pro90fs	coding	Pathogenic
22	28734454	G	GA	G28734455A	CHEK2	NM_007194.4(CHEK2):c.267_268insT:p.Pro90fs	coding	Pathogenic
22	28734459	GGCTCCTCAGGTTCTTGGTCCTCAGGTTCT	G	G28734460T	CHEK2	NM_007194.4(CHEK2):c.234_262del:p.Gln78fs	coding	Pathogenic
22	28734469	GT	G	T28734471C	CHEK2	NM_007194.4(CHEK2):c.252del:p.Glu84fs	coding	Pathogenic
22	28734474	TG	T	G28734476T	CHEK2	NM_007194.4(CHEK2):c.247del:p.Gln83fs	coding	Pathogenic/Likely_pathogenic
22	28734489	TG	T	G28734491T	CHEK2	NM_007194.4(CHEK2):c.232del:p.Gln78fs	coding	Pathogenic
22	28734498	GGAATA	G	A28734506G	CHEK2	NM_007194.4(CHEK2):c.214_218TATTC[1]:p.Ser73_Ile74insTer	coding	Pathogenic
22	28734505	AATAGAGTT	A	A28734506C	CHEK2	NM_007194.4(CHEK2):c.209_216del:p.Glu70fs	coding	Pathogenic
22	28734522	GA	G	A28734523C	CHEK2	NM_007194.4(CHEK2):c.199del:p.Ser67fs	coding	Pathogenic
22	28734526	CTG	C	G28734528C	CHEK2	NM_007194.4(CHEK2):c.194_195del:p.Thr65fs	coding	Pathogenic
22	28734535	AG	A	G28734537A	CHEK2	NM_007194.4(CHEK2):c.186del:p.Ser62_Leu63insTer	coding	Pathogenic
22	28734538	AG	A	G28734539C	CHEK2	NM_007194.4(CHEK2):c.183del:p.Ser62fs	coding	Pathogenic
22	28734540	CT	C	T28734541C	CHEK2	NM_007194.4(CHEK2):c.181del:p.Ser61fs	coding	Pathogenic
22	28734557	GGAGT	G	T28734561A	CHEK2	NM_007194.4(CHEK2):c.161_164del:p.His54fs	coding	Pathogenic
22	28734561	TGA	T	A28734565G	CHEK2	NM_007194.4(CHEK2):c.157_158TC[1]:p.His54fs	coding	Pathogenic
22	28734566	G	GGACT	G28734572A	CHEK2	NM_007194.4(CHEK2):c.152_155dup:p.Ser53fs	coding	Pathogenic
22	28734588	GTGCTGGTAGAGGAGCT	G	T28734589G	CHEK2	NM_007194.4(CHEK2):c.118_133del:p.Ser40fs	coding	Pathogenic
22	28734588	GT	G	T28734589G	CHEK2	NM_007194.4(CHEK2):c.133del:p.Thr45fs	coding	Pathogenic
22	28734602	GCTGGATATGCC	G	A28734607G	CHEK2	NM_007194.4(CHEK2):c.109_119del:p.Gly37fs	coding	Pathogenic
22	28734631	AGCCTT	A	C28734633G	CHEK2	NM_007194.4(CHEK2):c.86_90del:p.Gln29fs	coding	Pathogenic
22	28734690	T	TG	C28734692G	CHEK2	NM_007194.4(CHEK2):c.31dup:p.Gln11fs	coding	Pathogenic
22	28734701	AACATCCG	A	A28734704T	CHEK2	NM_007194.4(CHEK2):c.14_20del:p.Ser5fs	coding	Pathogenic/Likely_pathogenic
22	29331890	AG	A	G29331896C	AP1B1	NM_001127.3(AP1B1):c.2335del:p.Leu779fs	coding	Pathogenic
22	29489138	G	GAAACAA	G29489146A	NEFH	NM_021076.4(NEFH):c.1500_1505dup:p.Thr501_Lys502dup	coding	Benign
22	29489578	A	AAAGTCCCCTGAGAAGGCC	A29489605T	NEFH	NM_021076.4(NEFH):c.1947_1964dup:p.646_651AKSPEK[3]	coding	Benign
22	29489869	AGCTAAGTCCCCAGAGAAG	A	T29489872C	NEFH	NM_021076.4(NEFH):c.2232_2249del:p.746_751SPEKAK[1]	coding	Benign
22	29490648	AAG	A	G29490650C	NEFH	NM_021076.4(NEFH):c.3010_3011del:p.Asp1004fs	coding	Pathogenic
22	29490656	A	AAGCC	T29490661A	NEFH	NM_021076.4(NEFH):c.3017_3020dup:p.Pro1008fs	coding	Pathogenic
22	29490693	A	AG	A29490698G	NEFH	NM_021076.4(NEFH):c.3057dup:p.Lys1020fs	coding	Pathogenic
22	29604004	CG	C	G29604008C	NF2	NM_000268.4(NF2):c.10del:p.Ala4fs	coding	Pathogenic
22	29604027	GC	G	C29604028T	NF2	NM_000268.4(NF2):c.30del:p.Phe11fs	coding	Pathogenic
22	29604033	GCT	G	T29604039A	NF2	NM_000268.4(NF2):c.37_38TC[2]:p.Leu14fs	coding	Pathogenic
22	29604065	A	AC	G29604068C	NF2	NM_000268.4(NF2):c.69dup:p.Val24fs	coding	Pathogenic
22	29636761	A	AG	A29636762G	NF2	NM_000268.4(NF2):c.125_126insG:p.Gly43fs	coding	Pathogenic
22	29636813	CTGGTTCT	C	G29636815T	NF2	NM_000268.4(NF2):c.179_185del:p.Trp60fs	coding	Pathogenic
22	29636840	CAAGGACA	C	A29636841C	NF2	NM_000268.4(NF2):c.205_211del:p.Lys69fs	coding	Pathogenic
22	29639099	C	CA	T29639101A	NF2	NM_000268.4(NF2):c.251dup:p.His84fs	coding	Pathogenic
22	29639121	CA	C	A29639122G	NF2	NM_000268.4(NF2):c.273del:p.Val92fs	coding	Pathogenic
22	29639168	GAGGAGC	TAGGATA	G29639168T	NF2	NM_000268.4(NF2):c.319_325delinsTAGGATA:p.Glu107_Leu109delinsTer	coding	Pathogenic
22	29639169	AG	A	G29639171A	NF2	NM_000268.4(NF2):c.322del:p.Glu108fs	coding	Pathogenic
22	29642268	T	TA	C29642270A	NF2	NM_000268.4(NF2):c.431dup:p.Tyr144Ter	coding	Pathogenic
22	29642284	AG	A	G29642286T	NF2	NM_000268.4(NF2):c.447+1del	coding	Pathogenic
22	29654667	A	ACGACCCCAGTGTTCACAAG	G29654689A	NF2	NM_000268.4(NF2):c.461_479dup:p.Gly161fs	coding	Pathogenic
22	29655495	TTTACTGTTTTGTAAAAATGATGCATAATTATAAAAGTGGCAAACAATACCAAATTTACTTCATGTGTAGGTTTTTTATTTTGCTCTATTTTTTGGTAGGTAATAAATCTGTATCAGATGACTCCGGAAATGTGGGAGGAGAGAA	T	T29655502C	NF2	NM_016418.5(NF2):c.517-92_568del	noncoding	Pathogenic
22	29655639	ATT	A	T29655640A	NF2	NM_000268.4(NF2):c.563_564del:p.Ile188fs	coding	Pathogenic
22	29655656	AGAGCACC	A	C29655660G	NF2	NM_000268.4(NF2):c.583_589del:p.His195fs	coding	Pathogenic
22	29658245	T	TA	G29658246A	NF2	NM_000268.4(NF2):c.656_657insA:p.Asn220fs	coding	Pathogenic
22	29661263	ACCCTGAGAACAGACTGACC	A	T29661267A	NF2	NM_000268.4(NF2):c.738_756del:p.Glu247fs	coding	Pathogenic
22	29661271	AACAGACTG	A	A29661274C	NF2	NM_000268.4(NF2):c.745_752del:p.Arg249fs	coding	Pathogenic
22	29668378	AG	A	G29668380A	NF2	NM_000268.4(NF2):c.933del:p.Ala313fs	coding	Pathogenic
22	29668414	GC	G	C29668417A	NF2	NM_000268.4(NF2):c.970del:p.Gln324fs	coding	Pathogenic
22	29668439	GA	G	A29668442G	NF2	NM_000268.4(NF2):c.995del:p.Lys332fs	coding	Pathogenic
22	29671613	CTAG	C	T29671614A	NF2	NM_016418.5(NF2):c.1000-212_1000-210del	noncoding	Benign
22	29671831	G	GC	G29671833C	NF2	NM_000268.4(NF2):c.1006dup:p.Arg336fs	coding	Pathogenic
22	29671881	CG	C	G29671882A	NF2	NM_000268.4(NF2):c.1056del:p.Arg353fs	coding	Pathogenic
22	29671883	AG	A	G29671886A	NF2	NM_000268.4(NF2):c.1060del:p.Asp354fs	coding	Pathogenic
22	29673306	AG	A	G29673308C	NF2	NM_000268.4(NF2):c.1162del:p.Ala388fs	coding	Pathogenic
22	29673374	CA	C	A29673375G	NF2	NM_000268.4(NF2):c.1229del:p.Gln410fs	coding	Pathogenic
22	29673477	CAGAG	C	A29673480G	NF2	NM_000268.4(NF2):c.1332_1333AG[1]:p.Glu445fs	coding	Pathogenic
22	29674839	CAA	C	A29674841G	NF2	NM_000268.4(NF2):c.1346_1347del:p.Lys449fs	coding	Pathogenic
22	29674907	AGCTCCTGGAGATTGCC	A	G29674908A	NF2	NM_000268.4(NF2):c.1413_1428del:p.Leu472fs	coding	Pathogenic
22	29678193	CA	C	A29678194G	NF2	NM_016418.5(NF2):c.1447-2del	noncoding	Pathogenic
22	29696824	G	GT	G29696835T	NF2	NM_000268.4(NF2):c.*2032dup	noncoding	Benign
22	30610891	CAT	C	A30610892C	TCN2	NM_000355.4(TCN2):c.86_87del:p.His29fs	coding	Pathogenic
22	30611040	TG	T	G30611042T	TCN2	NM_000355.4(TCN2):c.236del:p.Gly79fs	coding	Pathogenic
22	30611054	G	GCCTCCTA	G30611062C	TCN2	NM_000355.4(TCN2):c.249_255dup:p.Gly86fs	coding	Pathogenic
22	30613039	AT	A	T30613041G	TCN2	NM_000355.4(TCN2):c.426del:p.Ile142fs	coding	Pathogenic
22	30614346	CAG	C	A30614347G	TCN2	NM_000355.4(TCN2):c.428-2_428-1del	noncoding	Pathogenic
22	30615611	C	CT	C30615614T	TCN2	NM_000355.4(TCN2):c.766dup:p.Ser256fs	coding	Pathogenic
22	30615770	ACTGT	A	T30615774G	TCN2	NM_000355.4(TCN2):c.927_930del:p.Cys309fs	coding	Pathogenic
22	30622999	T	TA	C30623001A	TCN2	NM_000355.4(TCN2):c.1139dup:p.Tyr380Ter	coding	Pathogenic
22	30889242	A	AG	A30889248G	OSBP2	NM_030758.4(OSBP2):c.1476+13dup	noncoding	Benign
22	30932538	CAT	C	A30932539G	MORC2	NM_001303256.3(MORC2):c.2747+5_2747+6del	noncoding	Benign
22	31619838	TGTGGTGATAG	T	T31619840C	PISD	NM_001326411.1(PISD):c.1006-12_1006-3del	noncoding	Pathogenic
22	31758615	A	AC	A31758620C	DEPDC5	NM_001242897.2(DEPDC5):c.132dup:p.Asn45fs	coding	Pathogenic
22	31760698	GA	G	A31760700G	DEPDC5	NM_001242896.3(DEPDC5):c.191del:p.Lys64fs	coding	Pathogenic
22	31764978	C	CT	A31764980T	DEPDC5	NM_001242896.3(DEPDC5):c.198dup:p.Ile67fs	coding	Pathogenic
22	31765011	TC	T	C31765013G	DEPDC5	NM_001242896.3(DEPDC5):c.232del:p.Arg78fs	coding	Pathogenic
22	31766638	TGG	T	G31766641A	DEPDC5	NM_001242897.2(DEPDC5):c.336_337del:p.Asp113fs	coding	Pathogenic
22	31778138	CAT	C	A31778139G	DEPDC5	NM_001242897.2(DEPDC5):c.454_455del:p.Met152fs	coding	Pathogenic
22	31783910	GTGT	G	G31783912T	DEPDC5	NM_001242897.2(DEPDC5):c.489_491del:p.Phe164del	coding	Pathogenic
22	31783911	TGTTTC	T	T31783915C	DEPDC5	NM_001242897.2(DEPDC5):c.492_496del:p.Arg165fs	coding	Pathogenic
22	31783989	CTG	C	G31783993C	DEPDC5	NM_001242896.3(DEPDC5):c.562+8_562+9del	noncoding	Benign
22	31792084	T	TA	T31792086A	DEPDC5	NM_001242896.3(DEPDC5):c.677dup:p.Tyr226Ter	coding	Pathogenic
22	31797614	ATGAG	A	T31797615A	DEPDC5	NM_001242897.2(DEPDC5):c.783_786del:p.Asn261fs	coding	Pathogenic
22	31797615	TGA	T	G31797620A	DEPDC5	NM_001242897.2(DEPDC5):c.784_785GA[2]:p.Arg263fs	coding	Pathogenic
22	31797616	GAGAGA	G	G31797625A	DEPDC5	NM_001242897.2(DEPDC5):c.788_792GAAGA[1]:p.Glu265fs	coding	Pathogenic
22	31797663	CTT	C	T31797664C	DEPDC5	NM_001242896.3(DEPDC5):c.832_833del:p.Phe278fs	coding	Pathogenic
22	31802740	GA	G	A31802742C	DEPDC5	NM_001242897.2(DEPDC5):c.985del:p.Thr329fs	coding	Pathogenic
22	31802771	CG	C	G31802775T	DEPDC5	NM_001242896.3(DEPDC5):c.1018del:p.Val340fs	coding	Pathogenic/Likely_pathogenic
22	31804171	T	TGGATTTG	T31804180G	DEPDC5	NM_001242897.2(DEPDC5):c.1093_1099dup:p.Val367fs	coding	Pathogenic
22	31804200	T	TTA	C31804203T	DEPDC5	NM_001242896.3(DEPDC5):c.1121_1122dup:p.His375fs	coding	Pathogenic
22	31804201	TA	T	A31804202C	DEPDC5	NM_001242897.2(DEPDC5):c.1122del:p.Leu374fs	coding	Pathogenic
22	31804210	TC	T	C31804213A	DEPDC5	NM_001242897.2(DEPDC5):c.1133del:p.Pro378fs	coding	Pathogenic
22	31809627	CA	C	A31809633T	DEPDC5	NM_001242896.3(DEPDC5):c.1310del:p.Asn437fs	coding	Pathogenic
22	31810579	CTA	C	A31810581G	DEPDC5	NM_001242897.2(DEPDC5):c.1385_1386del:p.Ala461_Tyr462insTer	coding	Pathogenic
22	31819100	CCATGCTG	C	C31819105T	DEPDC5	NM_001242897.2(DEPDC5):c.1750_1756del:p.Leu584fs	coding	Pathogenic
22	31819198	AG	A	G31819200C	DEPDC5	NM_001242897.2(DEPDC5):c.1845del:p.Arg615fs	coding	Pathogenic
22	31821566	C	CA	G31821568A	DEPDC5	NM_001242896.3(DEPDC5):c.1936dup:p.Ser646fs	coding	Pathogenic
22	31821592	CCT	C	C31821595G	DEPDC5	NM_001242897.2(DEPDC5):c.1870+2370_1870+2371del	coding	Pathogenic
22	31838719	CA	C	A31838720G	DEPDC5	NM_001242897.2(DEPDC5):c.2156del:p.Gln719fs	coding	Pathogenic
22	31838822	G	GAGA	C31838823A	DEPDC5	NM_001242897.2(DEPDC5):c.2258_2259insAGA:p.Ser753delinsArgAsp	coding	Pathogenic
22	31843636	AT	A	T31843640G	DEPDC5	NM_001242896.3(DEPDC5):c.2634-5del	noncoding	Benign
22	31845069	CTG	C	G31845073C	DEPDC5	NM_001242896.3(DEPDC5):c.2857_2858del:p.Val953fs	coding	Pathogenic
22	31845103	GAGGCCCACTGCGACATCTATGGGGAC	G	A31845110C	DEPDC5	NM_001242897.2(DEPDC5):c.2660_2685del:p.His887fs	coding	Pathogenic
22	31846902	AC	A	C31846907A	DEPDC5	NM_001242896.3(DEPDC5):c.3095del:p.Pro1032fs	coding	Pathogenic
22	31870579	AT	A	T31870580C	DEPDC5	NM_001242897.2(DEPDC5):c.3031-10del	noncoding	Benign/Likely_benign
22	31870702	TA	T	A31870703G	DEPDC5	NM_001242897.2(DEPDC5):c.3144del:p.Ile1048fs	coding	Pathogenic
22	31873315	AG	A	G31873316C	DEPDC5	NM_001242897.2(DEPDC5):c.3247del:p.Ala1083fs	coding	Pathogenic
22	31874362	T	TG	A31874365G	DEPDC5	NM_001242896.3(DEPDC5):c.3655dup:p.Glu1219fs	coding	Pathogenic
22	31876168	AG	A	G31876169A	DEPDC5	NM_001242896.3(DEPDC5):c.3709del:p.Glu1237fs	coding	Pathogenic
22	31879690	CA	C	A31879692G	DEPDC5	NM_001242896.3(DEPDC5):c.3973del:p.Ser1325fs	coding	Pathogenic
22	31893611	AC	A	C31893614T	DEPDC5	NM_001242896.3(DEPDC5):c.4066del:p.Leu1356fs	coding	Pathogenic
22	31893734	GC	G	C31893735A	DEPDC5	NM_001242897.2(DEPDC5):c.3887del:p.Ala1296fs	coding	Pathogenic
22	31893744	T	TC	G31893746C	DEPDC5	NM_001242896.3(DEPDC5):c.4197dup:p.Glu1400fs	coding	Pathogenic
22	31897537	TG	T	G31897539A	DEPDC5	NM_001242897.2(DEPDC5):c.3961del:p.Glu1321fs	coding	Pathogenic
22	31897566	CTGTA	C	T31897569G	DEPDC5	NM_001242896.3(DEPDC5):c.4291_4294del:p.Tyr1431fs	coding	Pathogenic
22	31905990	G	GT	G31905994T	DEPDC5	NM_001242896.3(DEPDC5):c.4446dup:p.Val1483fs	coding	Pathogenic
22	31906047	T	TCA	G31906050C	DEPDC5	NM_001242897.2(DEPDC5):c.4201_4202dup:p.Gln1401fs	coding	Pathogenic
22	31906212	GT	G	T31906215C	DEPDC5	NM_001242896.3(DEPDC5):c.4530del:p.Leu1511fs	coding	Pathogenic
22	31906501	C	CAGGCTGCACCAGGGTTAGA	T31906512A	DEPDC5	NM_001242897.2(DEPDC5):c.*14_*15insAGGGTTAGAAGGCTGCACC	noncoding	Benign
22	32104814	AC	A	C32104815A	SLC5A1	NM_000343.4(SLC5A1):c.1695del:p.Asn565fs	coding	Pathogenic
22	32479008	GA	G	A32479010C	FBXO7	NM_012179.4(FBXO7):c.152del:p.Asn51fs	coding	Pathogenic
22	32498165	C	CAA	G32498169A	FBXO7	NM_012179.4(FBXO7):c.1206_1207dup:p.Arg403fs	coding	Pathogenic
22	32498232	TC	AT	T32498232A	FBXO7	NM_012179.4(FBXO7):c.1271_1272delinsAT:p.Phe424Tyr	coding	Benign
22	32518208	GG	AA	G32518208A	SYN3	NM_003490.4(SYN3):c.1444_1445delinsTT:p.Pro482Leu	coding	Pathogenic
22	32861176	GA	G	A32861189G	TIMP3	NM_003490.4(SYN3):c.711+3738del	coding	Benign
22	32861391	C	CAGA	C32861397A	TIMP3	NM_003490.4(SYN3):c.711+3521_711+3523dup	coding	Benign
22	33304259	AG	A	G33304261A	LARGE1	NM_133642.5(LARGE1):c.1699del:p.Leu567fs	coding	Pathogenic
22	33626390	AG	A	G33626391A	LARGE1	NM_004737.6(LARGE1):c.409-65del	noncoding	Benign
22	35410840	CAG	C	A35410841G	MCM5	NM_006739.4(MCM5):c.850_851del:p.Arg284fs	coding	Pathogenic
22	35728842	GC	G	C35728846A	APOL5	NM_030642.1(APOL5):c.1250del:p.Pro417fs	coding	Benign
22	35781685	G	GA	T35781688A	RBFOX2	NM_014309.4(RBFOX2):c.313dup:p.Ser105fs	coding	Pathogenic
22	36265261	AAG	A	A36265264T	APOL1	NM_003661.4(APOL1):c.426_427AG[1]:p.Glu143fs	coding	Benign
22	36281507	TA	T	A36281519T	MYH9	NM_002473.5(MYH9):c.*1160del	noncoding	Benign
22	36282729	TC	T	C36282733G	MYH9	NM_002473.5(MYH9):c.5821del:p.Asp1941fs	coding	Pathogenic
22	36282771	GGCAGGTCCCC	G	A36282774G	MYH9	NM_002473.5(MYH9):c.5770_5779del:p.Gly1924fs	coding	Pathogenic
22	36282787	TG	T	G36282792C	MYH9	NM_002473.6(MYH9):c.5766-3del	noncoding	Benign
22	36285338	GA	G	A36285340G	MYH9	NM_002473.5(MYH9):c.5275-10del	noncoding	Benign
22	36296899	C	CGCGATCTGGGCCTGGAGCTCG	T36296930G	MYH9	NM_002473.5(MYH9):c.3195_3215dup:p.Gln1068_Leu1074dup	coding	Pathogenic
22	36296899	CGCGATCTGGGCCTGGAGCTCG	C	G36296909T	MYH9	NM_002473.5(MYH9):c.3195_3215del:p.Gln1068_Leu1074del	coding	Pathogenic
22	36312004	CTCCTGTGA	C	T36312005A	MYH9	NM_002473.5(MYH9):c.1728+37_1728+44del	noncoding	Benign
22	36766163	AGCTCCTT	A	T36766166C	IFT27	NM_001177701.3(IFT27):c.202_208del:p.Lys68fs	coding	Pathogenic
22	36864943	A	AAAGGAGGATC	C36864954A	NCF4	NM_000631.5(NCF4):c.143_152dup:p.Lys52fs	coding	Pathogenic
22	36864943	AAAGGAGGATC	A	A36864944C	NCF4	NM_000631.5(NCF4):c.143_152del:p.Lys48fs	coding	Pathogenic
22	37069154	C	CGGGG	C37069159G	TMPRSS6	NM_153609.3(TMPRSS6):c.2055_2058dup:p.Val687fs	coding	Pathogenic
22	37069307	T	TGC	C37069310G	TMPRSS6	NM_153609.3(TMPRSS6):c.1904_1905dup:p.Lys636fs	coding	Pathogenic
22	37069345	CTGGGG	C	G37069373A	TMPRSS6	NM_153609.3(TMPRSS6):c.1869-31CCCCA[5]	noncoding	Benign
22	37070538	GC	G	C37070545A	TMPRSS6	NM_153609.3(TMPRSS6):c.1813del:p.Ala605fs	coding	Pathogenic
22	37074695	CT	C	T37074696C	TMPRSS6	NM_153609.3(TMPRSS6):c.1382del:p.Glu461fs	coding	Pathogenic
22	37075161	TGCACCC	T	C37075166A	TMPRSS6	NM_001374504.1(TMPRSS6):c.1310_1315del:p.Arg437_Val438del	coding	Pathogenic
22	37136257	TGGCTCCAGG	T	G37136267T	IL2RB	NM_000878.5(IL2RB):c.656_664CCTGGAGCC[1]:p.Pro222_Ser224del	coding	Pathogenic
22	37710552	GCCAGGGCCCAAGAGGTGGGTAGAGTC	G	A37710563G	TRIOBP	NM_001039141.3(TRIOBP):c.251_254+22del	coding	Pathogenic
22	37723747	TCAA	T	A37723749G	TRIOBP	NM_001039141.3(TRIOBP):c.1193_1195del:p.Gln398del	coding	Benign
22	37725757	CCG	C	C37725758A	TRIOBP	NM_001039141.3(TRIOBP):c.3202_3203del:p.Asp1069fs	coding	Pathogenic
22	37726032	ACATCCCCACCCCTGTGTGCATTGGGCACCGGGATGCACCCTCCTTCT	A	C37726043A	TRIOBP	NM_001039141.3(TRIOBP):c.3487_3533del:p.Pro1163fs	coding	Pathogenic
22	37726188	TGCTGATCCCCCAA	T	C37726190T	TRIOBP	NM_001039141.3(TRIOBP):c.3634_3646del:p.Leu1212fs	coding	Pathogenic
22	37755093	TG	T	G37755094C	TRIOBP	NM_001039141.3(TRIOBP):c.5488-7del	noncoding	Benign
22	37765828	T	TG	C37765837G	TRIOBP	NM_001039141.3(TRIOBP):c.6472+19dup	noncoding	Benign
22	37765830	G	GT	G37765831T	TRIOBP	NM_001039141.3(TRIOBP):c.6472+13_6472+14insT	noncoding	Benign
22	37765832	G	GC	G37765833C	TRIOBP	NM_001039141.3(TRIOBP):c.6472+15_6472+16insC	noncoding	Benign
22	37973484	CAGGGCCCCCTTT	C	C37973491G	SOX10	NM_006941.3(SOX10):c.1400_*10delAAAGGGGGCCCT:p.*467Cysext*82	coding	Pathogenic
22	37973516	AT	A	T37973517A	SOX10	NM_006941.4(SOX10):c.1379del:p.Tyr460fs	coding	Pathogenic
22	37973566	GGCTGGGGTCAGAGAT	G	C37973568G	SOX10	NM_006941.4(SOX10):c.1315_1329del:p.Ile439_Ser443del	coding	Pathogenic
22	37973686	CAGAGT	C	A37973689T	SOX10	NM_001301130.2(POLR2F):c.293+6519_293+6523del	coding	Pathogenic
22	37973721	A	AAGGCTGAGCCATAGTGGGGC	G37973750C	SOX10	NM_006941.4(SOX10):c.1155_1174dup:p.Phe392fs	coding	Pathogenic
22	37973788	TG	T	G37973789T	SOX10	NM_001301130.2(POLR2F):c.293+6619del	coding	Pathogenic/Likely_pathogenic
22	37973811	CCCGCGGTCTCTGTCTTCACCTGGGCTTTGGCATCCACACCAGGTGGTGAGACCGTGGGCAGAGCCACGCCTGGTGGCTTGGAGATCCAGGCGGAGTGTCCACTGGCCACGGCCAGGGCACTGCCCAGCCCATAGCCGGCTGCTGAGTAGCTGCTCACATGGCCTGGGTGCCCATTGGGCGGCAGGTACTGGTCCAACTCAGCCACATCAAAGGTCTCCATGTTGGACATTACCTCGTGGCTGATCTCACCAATGTCCACGTTGCCGAAGTCGATGTGAGGCTTCCCGCCCTCCCCCATGGAGCGCCCGTCCCGCTTCGGGTCTGCCTTGCCCGACTGCAGCTCTGTCTTCGGGGTGGTTGGAGGGGTGGGTGGGCCATGGCTCTGGCCTGGGTAGAAGGGAGACAGAGAGAGAGAGCGCAAGGGGGAAGCAGGTTAGAGGCAGGTGGGCGCACGTGAACTTCCATGGTTCACCTTCAGGCAGCGGGTGCCTCTGGGAAAACCTTGTAAGTTTCACATTTTGGCAGCATGAGTCGGGTTTTTTTTTGTTTTTTTTTTTTGAGATGGAGTTTCGCTCTTGTTGCCCAGACTGGAGTGCAGTGGCGCCATCTCGGCTCACTGCAACCTCTGCCTCCTGGGTTCAAATGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGAATTACAAGCGCCCACCACAATGCCCAGCTAATTTGTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAGGGTTGTCTTGAACTCCTGACCTCAGGTGATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATTACCATCATGAGCCACTGCGCCCCACAGCATTTGTTTAAATACTGGTGTCTTAGATTGATCTCTAGTTGTTTATGAAATTCTCAAATCTTAGGGATGGGTCCTGGGGAGGCCTGCCTCATTCTGAAAAAACCTTTCCTGTGGAAAGTTCTTCCTCTCATCAGCTTCTCTGCTGTCCAGGTGGTCTGGCCCAGCCTTTGCGCTCTGCCAGCCCCGCTTCCACACCCATGCCTACTGTCTTCCTTGCTGAGCCTCGCTCGCCCAGGCTCCTGAGTGCTCTGTTTCACCTTTGCTGGTTGCCTGGGCCTGCTCCCT	AGG	C37973811A	SOX10	NM_006941.4(SOX10):c.698-740_1085delinsCCT	coding	Pathogenic
22	37973817	GTC	G	C37973821G	SOX10	NM_001301130.2(POLR2F):c.293+6651_293+6652del	coding	Pathogenic
22	37973980	GC	G	C37973983A	SOX10	NM_001301130.2(POLR2F):c.293+6813del	coding	Pathogenic
22	37974151	GCT	G	C37974154G	SOX10	NM_001301130.2(POLR2F):c.293+6984_293+6985del	coding	Pathogenic
22	37977470	GCCACCACGCCCAGCTAATTTTTTTTATTTTTAGTAGAGATGGGATTTCACCATGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCTGCCCTCCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCACACCCGGCGGCCTCCACAGTCTTTAACTGGCCCTCTTTGCCCAGTAGGATCAGCCCTGGCCAGAGCCATCTCACCCAGCCACTTCCCCTGGCACCGGAACCCCCATGGAGCTCCCTCTGGGCCCCTGCAGCTCTGCTGGGGCAACTGCACAGCCTGGCACGCTCTCCCTAGAGTCCAGGGTCTCATTGCCATCCAGCCATCTCCTGTCTCCACTGACTGGCCTTGCCCCACCCTCAGCTCTGTCATCAGCACTCACCTGAGGGGTGCTCGGGGTTCCCATCTGACATGGGGGAGCCCTCTCCTGGGTGCCGGTGGTCCAAGTGGGCGCTCTTGTAGTGGGCCTGGATGGCGGCGGTCCCACCTTGCTCGGCCTCCCCACCGGGGCACTCCGCCTCGCCCTGGGCGGCCTTCCCGTTCTTCCGCCGCCTGGGCTGGTACTTGTAGTCCGGGTGGTCTTTCTTGTGCTGCATACGGAGCCGCTCAGCCTCCTCGATGAAGGGGCGCTTGTCACTTTCGTTCAGCAGCCTGGGGTGTGGTGGGAGGCGGAGAGGACAGCAGAGGGGCTGGCGTGAATGCCAGAGCACTCCAGGTTGGCCTCCCTCTGAGTGTCCATCTTGGAAGATGTGAGGCCCTGGGATGGGGCACCCAGAGGACAGGACCCGGGGTGGGGGCTGTGCCCTATGATTTGTGGACTGAGAGATGTGAGGCCCAAGGAATAACAGCCTCAGAGGGCTGCCCCCAAATCTTTCATGGGCTGGAGGGTGAGAGAGGGGTCAGCCCGCTGCTCCTGGCAGCCCCTGAGGAGGAGTTAGAAGTAGGAGTAGAGGTTTCAAGGGGCAGATGCCAGTTCAAGGAAAGGAAAAACTTTCTCATCATCAAAGCTGTCTGCAAGTGGAATTGGCTACTTCAGTGGGGGTGAGCTCCCTGGGACTGAGGGTGGGCAATAGAAGCAGCATGGCTGGGGGAGAACTCAGTCTCTGCTACTTACTAGCTGTGTGTGTGACCTTGAGCAAATTACTTCTCTGAGCCTGAGTTTCTTCACCTATAAAAGGATGATAACATTGGCTTAACTTGGGTGTGGGATTGGCCAGAATAATGGATGTGAGATGCCTTGCACCAGGGCCTGGGAAGCGGGCTGAGCACCTTGAGGAAGAGGTGCTTTTCTTTCTTTCTTTTTTTTTTCTGTGAGGGAATCTCACTCTGTCACCCATGCTAGAGCTCAGTGGTATGATCTCAGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGTGATTCTTGTGCCTCAGCCTCCCAAGTAGCTGGGATTACAAGCATGCGCCACCACGCCCGGTTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGACCAGGCTGGTCTCCAACTCCTGACCTTAGTTGATCCGCCTGCCTTGGCCTTCCAAAGTGCTGGGATTACAGGCATGAGCCATTGTGCCCAGCCCAAGAGGTACTTTTCTATTTTTAATTTTTTATTTATTTAGAGACAGAGTCTCACTCTGTCGCCCAGGCTGGAGTGCCGTGATGCGGTCTCAGCTCACTGCAATCTCGGCTTCCTGAGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGGGTAGCTGGGACTACAGGCACGCA	G	C37977477T	SOX10	NM_006941.3(SOX10):c.429-1112_697+396del	noncoding	Pathogenic
22	37977958	GGC	G	C37977960G	SOX10	NM_001301130.2(POLR2F):c.294-8194_294-8193del	coding	Pathogenic
22	37978057	CG	C	G37978060T	SOX10	NM_001301130.2(POLR2F):c.294-8094del	coding	Pathogenic
22	37978081	A	AAGGAGC	C37978082A	SOX10	NM_001301130.2(POLR2F):c.294-8073_294-8072insAGGAGC	coding	Pathogenic
22	37983313	CCGAAGCTAGAGGGCCCGAGCCCGGGGGGCGGTCGGGTGCTCACCTCCAGAGCTTGCCCAGCGTCTTGCTGAGCTCAGCGTTGTGCAGGTGCGGGTACTGGTCCGCGAGCTTCCTGCGCGCTGCCTGAGCCCACACCATGAAGGCGTTCATGGGCCGCTTGACGTGCGGCTTGCTTTTGCTGGCGCCGTTGACGCGCACGGGCATGGGCACCAGCGTCCAGTCGTAGCCGCTGAGCACCTGGCTGACGGCCTCG	C	A37983316G	SOX10	NM_006941.3(SOX10):c.219_428+43del	noncoding	Pathogenic
22	37983643	GC	G	C37983647G	SOX10	NM_001301130.2(POLR2F):c.294-2507del	coding	Pathogenic/Likely_pathogenic
22	37983652	TGGCTCGCA	T	T37983656C	SOX10	NM_006941.4(SOX10):c.125_132del:p.Leu42fs	coding	Pathogenic
22	37983671	GC	G	C37983673G	SOX10	NM_001301130.2(POLR2F):c.294-2481del	coding	Pathogenic
22	38078443	TCGCCCCGGGCG	T	G38078445T	SLC16A8	NM_013356.3(SLC16A8):c.1449_1459del:p.Ser483fs	coding	Benign
22	38112210	TCA	T	C38112211T	PLA2G6	NM_003560.4(PLA2G6):c.2370_2371del:p.Tyr790_Glu791delinsTer	coding	Pathogenic
22	38112253	CTG	C	G38112257C	PLA2G6	NM_003560.4(PLA2G6):c.2325_2326CA[1]:p.Thr776fs	coding	Pathogenic
22	38113616	GACA	G	A38113619G	PLA2G6	NM_003560.4(PLA2G6):c.2070_2072del:p.Val691del	coding	Pathogenic
22	38115629	GA	G	A38115631G	PLA2G6	NM_003560.4(PLA2G6):c.1931del:p.Phe644fs	coding	Pathogenic
22	38115689	CG	C	G38115693A	PLA2G6	NM_003560.4(PLA2G6):c.1880-9del	noncoding	Pathogenic
22	38120826	GC	G	C38120830G	PLA2G6	NM_003560.4(PLA2G6):c.1674del:p.Leu560fs	coding	Pathogenic
22	38123137	C	CCG	C38123141G	PLA2G6	NM_003560.4(PLA2G6):c.1547_1548dup:p.Gly517fs	coding	Pathogenic/Likely_pathogenic
22	38123176	AG	A	G38123178C	PLA2G6	NM_003560.4(PLA2G6):c.1509del:p.Ser504fs	coding	Pathogenic
22	38126446	AG	A	G38126447T	PLA2G6	NM_003560.4(PLA2G6):c.1351del:p.Leu451fs	coding	Pathogenic
22	38128354	GA	G	A38128355C	PLA2G6	NM_003560.4(PLA2G6):c.1262del:p.Val421fs	coding	Pathogenic
22	38132882	GTTGGCCC	G	T38132883C	PLA2G6	NM_003560.4(PLA2G6):c.1019_1025del:p.Gly340fs	coding	Pathogenic
22	38140023	GT	G	T38140025G	PLA2G6	NM_003560.4(PLA2G6):c.755del:p.Asn252fs	coding	Pathogenic
22	38143177	CATCT	C	A38143178G	PLA2G6	NM_003560.4(PLA2G6):c.533_536del:p.Gln178fs	coding	Pathogenic
22	38145543	AG	A	G38145545A	PLA2G6	NM_003560.4(PLA2G6):c.319del:p.Leu107fs	coding	Pathogenic
22	38179733	ATTGCATTCCAGCCTGGGTGACAGAGTGAGACTCTGTCTCAAAAAATAAATAAATCAATAAATAAATACTTCAAGTTTGAAAAGCCTAAGTTTGAGGTGCTGAGTAAGCAACTAGATTTGAGTATGTCATTCCAGGGAAAGGTCTGGACTGGACTGGGGATATAAATTTGTGGGCTGACAGAATAGAGACGGCACTTAAAGAAATAAGACTGGATGAGATCACCATCCGAAAACGAGAAGAGGCATTTAAGACATGACCCTATCAAAATCCACTGTGAAAGACACAGAACATATTCTCCCAGGGAGCCACCCTCTACAAAGTGAAGTTTGTAACACACTCTTCACTACGGCCCCTTACTCCTTGCCTACCTACTTCCCCCAGCACACACACCCAATAGATGTCTGCAGACACACACACACACACACACACACACACACACACACACACACAGAGTATTTAAATTTCTCCTTTCTGTATCTCTTAGTGATGTCATTCTGCTGAGTAAGAGGGAAACTCCCTTTTGGGGAGTCTCTCATGTAACAAGAAAGTAATCCACGGAAGGAACAAGAAGTGTCCTAAACAGTAGCAAACCTTACACATCAGGACAATCACACAGGCTCTGGTGTCAGATTCCAGCTTCAACCTCATCGGTGTGACCTCAAGCAACTCATGCGCCCTCTTTTTCTCATGTGAAGTGAGAATATCATTGGCCACACCAAGGGTAGCCTAGAACATCAGACAGTCCGTAAATATTTGTTAGATAAACGATGACTGAATGAATGGTGAAGAGAACATATACAGAAGAGCCTGACTCACAAGAGGTGATGAACAAACACTGCCAAATGATACACTGAAAGACAAGGGACCTCCTGCTCATCCTTCTCTCCTTGTCTTCTCATTCTAGCCCTTTCCCTTTCCACTCCTTTCAATTCTGCCTATGACCCAACAGTAAAATCATGTATTTGTACAGGGCCATACTGGTTATAAAGCTTTACCTTCTACATTTTCTCATTCAAATTTTGAACCTCATGGCAGACTTACGAGGGCAGGAGGTACAGTTCCCCTGTCACAGATGAGGAAACTGAGACTTGGACAGAAAACAGGTTCCAAACTCCAGGCAGAAACTCTAACAAAAACAATGCATTCAAAAACAATGCATTCAGCCCAAGGGTGCAGCCTCAACGTTGCCAAACCGAACCTGCCTGACATCCTGTTGGGCGGGTAAGAGGCAGGTGAGGGAAAGACCCAGAAGCTAGGGGGAGGTATTCGTTGGGGTCATGTGGGTAGCCCATTAAAAATACGGCCACAGGTCCCCTTGCCCTGTGCCCTCCCTGTCCCACACCCACAGGCTTGCCCCGACCCAGTCCCATGATCACCCTGGTCACATGCTCCCTGTCACCAGCTTCCAAGTCATCTGTGGGAGCAGGAGGTGGACACAGGATTAGGGGTGGGAGACTCTGGGGTGGCCAGGCTGAGGGGAAGGAGGGAGCATGTCGGGGGCAGGTCTGGAGGCACGCGAGAGAGGAAAGGCAAGGAAAAAAAGCAGGGAGGAAAGGCAGGAGAAGCAGGGAGTGAGAAATGAGTAGAGGCACCACGAAAGGTGGAGACGGACGTGAAGTGGGGAATCAAGTGAGCACTTAGAGGAGCACAGGAAGGAAAATTAGGACGGCCAATGGGGCCTAAAGAGGCACTGAGGGTCGGGGAAAGAGAAGAGATGGATTGACTCGGGAAGTTAGGGATACTGAGGGAGACACACGGAGGAGACTGGGGTTCAGGGGAGAAACTCAGGGTCGAAGCTGGGGTCCCTGGGGTCCACAAGTTCGAGATGAGACACGGGCGGTCTCGGGATGGGAATTGGGGACGCAGGGGGATGAAAAGATGGAAGGTGGGGGCACTCAGGGAGTCACATAAGGGTTAATGGAGGACATGCCTCAGAATCGGAGACACGAGGAATATCCAAAGGAGGGTCCGGCGGAGACTTGGGAGTCCGGAGCGCCGAGGAAGTTGGGGAACGGACCCCCAGGCCCCGCCCACCCGCGAGGTCACTCACCTCGGCTTACTCAGCACTTCTACTTCCTCCTACTTCCGCAAACAAACGGGCCTCGGGCCACGTGATGGCCTGACCACCGCTCTCCGCCAATCACTGGTGGCCCTGTCCCAGGCCTCCTCTAGGCTCCGCCCCCGCGCCCGAGGACGGCGGGAGGCGGGGTCCGCCATTTTTTTTAACTGCCCAATGGAAGGGGCTCCCTTAGCCAGGAGGACGAGCTTTCGGCGGGAGCCAATCCTCGGCGGCGAGGCGCGGCCATGTTTGTGCGGGGCAGAAGGTGCCCGGCTTCTTGGCAGTCCTGTTGATGAGGGCCAGGAGTCCTACCCTAGTCCGCCTTCCGCCTCCTAAAGCGACCAGAGCCTGGAGTCTGAAGTTACTGTTAA	GAGATCG	A38179733G	PLA2G6	NM_003560.4(PLA2G6):c.0_-46+1931delinsCGATCTC	noncoding	Pathogenic
22	38668111	A	ATC	C38668120T	CBY1	NM_001002880.1(CBY1):c.187_188TC[5]:p.Asn66fs	coding	Pathogenic
22	38671073	CAG	C	A38671074G	CBY1	NM_015373.3(CBY1):c.189_190del:p.Gly64_Val65insTer	coding	Pathogenic
22	39317633	C	CA	G39317643A	RPL3	NM_000967.4(RPL3):c.197-13dup	noncoding	Benign
22	39381817	C	CCAA	C39381820A	SYNGR1	NM_004711.5(SYNGR1):c.607_608insACA:p.Thr203_Gly204insAsn	coding	Benign
22	40301172	TGCAGCA	T	C40301192A	TNRC6B	NM_001162501.2(TNRC6B):c.3961_3963CAG[6]:p.Gln1327_Gln1328del	coding	Benign
22	40358822	GTCTC	G	T40358823G	ADSL	NM_000026.4(ADSL):c.483-41_483-38del	noncoding	Benign
22	40364360	CG	C	G40364361C	ADSL	NM_000026.4(ADSL):c.1187del:p.Arg396fs	coding	Pathogenic
22	41093070	CCT	C	T41093074G	EP300	NM_001429.4(EP300):c.68_69TC[1]:p.Ser24fs	coding	Pathogenic
22	41117193	GCTCT	G	C41117196A	EP300	NM_001429.4(EP300):c.102_103CT[1]:p.Ser35fs	coding	Pathogenic
22	41117360	TC	T	C41117364T	EP300	NM_001429.4(EP300):c.272del:p.Pro91fs	coding	Pathogenic
22	41117360	T	TC	T41117365C	EP300	NM_001429.4(EP300):c.272dup:p.Pro91_Asn92insTer	coding	Pathogenic
22	41117582	GGAAT	G	T41117586C	EP300	NM_001429.4(EP300):c.494_497del:p.Met165fs	coding	Pathogenic
22	41117727	TG	T	G41117730A	EP300	NM_001429.4(EP300):c.638del:p.Gly213fs	coding	Pathogenic
22	41125844	CTTTTGTTTCT	C	T41125846A	EP300	NM_001429.4(EP300):c.730-18_730-9del	noncoding	Benign
22	41125901	CATATACTCAGAATCCTGG	C	T41125903C	EP300	NM_001429.4(EP300):c.769_786del:p.Tyr257_Gly262del	coding	Pathogenic
22	41125961	CA	C	A41125966C	EP300	NM_001429.4(EP300):c.832del:p.Thr278fs	coding	Pathogenic
22	41127465	AATATATTGTT	A	A41127470C	EP300	NM_001429.4(EP300):c.907-17_907-8del	noncoding	Benign
22	41131554	AC	A	C41131558A	EP300	NM_001429.4(EP300):c.1453del:p.Gln485fs	coding	Pathogenic
22	41131612	A	AT	G41131614T	EP300	NM_001429.4(EP300):c.1508dup:p.Met503fs	coding	Pathogenic
22	41131621	AT	A	T41131622G	EP300	NM_001429.4(EP300):c.1517del:p.Met506fs	coding	Pathogenic
22	41135890	GCCAT	TATGTTGAGCCATAACTGCATGTTGAGCCCA	G41135890T	EP300	NM_001429.4(EP300):c.1606_1610delinsTATGTTGAGCCATAACTGCATGTTGAGCCCA:p.Ala536_Ile537delinsTyrValGluProTer	coding	Pathogenic
22	41146748	TA	T	A41146749C	EP300	NM_001429.4(EP300):c.2064del:p.Pro689fs	coding	Pathogenic
22	41147866	G	GC	A41147870C	EP300	NM_001429.4(EP300):c.2164dup:p.Gln722fs	coding	Pathogenic
22	41149038	CCTATGGG	C	T41149047C	EP300	NM_001429.4(EP300):c.2244_2250TATGGGC[1]:p.Tyr751fs	coding	Pathogenic
22	41149916	T	TC	A41149922C	EP300	NM_001429.4(EP300):c.2540dup:p.Ser848fs	coding	Pathogenic
22	41151889	TAGCACAGA	T	C41151892T	EP300	NM_001429.4(EP300):c.2877_2884del:p.Thr960fs	coding	Pathogenic
22	41152220	CTG	C	G41152222A	EP300	NM_001429.4(EP300):c.3014_3015del:p.Asp1004_Cys1005insTer	coding	Pathogenic
22	41152243	CAGAAG	C	A41152247G	EP300	NM_001429.4(EP300):c.3039_3043del:p.Glu1014fs	coding	Pathogenic
22	41152276	TAAAAG	T	A41152278G	EP300	NM_001429.4(EP300):c.3070_3074del:p.Lys1024fs	coding	Pathogenic
22	41152278	A	AT	A41152279T	EP300	NM_001429.4(EP300):c.3070_3071insT:p.Lys1024fs	coding	Pathogenic
22	41154980	C	CT	A41154992T	EP300	NM_001429.4(EP300):c.3143-4dup	noncoding	Benign
22	41157273	GC	G	C41157274T	EP300	NM_001429.4(EP300):c.3367del:p.Met1124fs	coding	Pathogenic
22	41157316	C	CG	T41157320G	EP300	NM_001429.4(EP300):c.3412dup:p.Val1138fs	coding	Pathogenic
22	41157344	CTG	C	T41157345A	EP300	NM_001429.4(EP300):c.3438_3439del:p.Glu1147fs	coding	Pathogenic
22	41157391	T	TA	C41157393A	EP300	NM_001429.4(EP300):c.3485dup:p.Tyr1162Ter	coding	Pathogenic
22	41162732	TAAAG	T	A41162735C	EP300	NM_001429.4(EP300):c.3684_3687del:p.Lys1228fs	coding	Pathogenic
22	41162752	G	GA	T41162759A	EP300	NM_001429.4(EP300):c.3707dup:p.Asn1236fs	coding	Pathogenic
22	41168478	C	CT	A41168480T	EP300	NM_001429.4(EP300):c.3905dup:p.Glu1303fs	coding	Pathogenic
22	41168766	C	CAA	G41168770A	EP300	NM_001429.4(EP300):c.4073_4074dup:p.Ala1359fs	coding	Pathogenic
22	41168796	TG	T	G41168798T	EP300	NM_001429.4(EP300):c.4103del:p.Gly1368fs	coding	Pathogenic
22	41169518	T	TCCTATGTATATCTCCTATACATATCTCCTATCGAACA	T41169519C	EP300	NM_001429.4(EP300):c.4188_4189insCCTATGTATATCTCCTATACATATCTCCTATCGAACA:p.Tyr1397fs	coding	Pathogenic
22	41169519	T	TAC	C41169522A	EP300	NM_001429.4(EP300):c.4190_4191dup:p.Leu1398fs	coding	Pathogenic
22	41172619	G	GA	G41172622A	EP300	NM_001429.4(EP300):c.4575dup:p.Glu1526fs	coding	Pathogenic
22	41172624	GAGAAAACGAGA	G	A41172625G	EP300	NM_001429.4(EP300):c.4579_4589del:p.Arg1527fs	coding	Pathogenic
22	41176301	A	AT	G41176304T	EP300	NM_001429.4(EP300):c.4836dup:p.Val1613fs	coding	Pathogenic
22	41176341	A	AT	G41176343T	EP300	NM_001429.4(EP300):c.4875dup:p.Gly1626fs	coding	Pathogenic
22	41176420	C	CATGT	G41176425A	EP300	NM_001429.4(EP300):c.4954_4957dup:p.Cys1653fs	coding	Pathogenic
22	41177198	CAGG	C	G41177203T	EP300	NM_001429.4(EP300):c.5489_5491GGA[1]:p.Arg1831del	coding	Pathogenic
22	41177288	TGGCCAAC	T	G41177289A	EP300	NM_001429.4(EP300):c.5578_5584del:p.Gly1860fs	coding	Pathogenic
22	41177427	AC	A	C41177431T	EP300	NM_001429.4(EP300):c.5720del:p.Pro1907fs	coding	Pathogenic
22	41177456	G	GC	A41177459C	EP300	NM_001429.4(EP300):c.5747dup:p.Pro1917fs	coding	Pathogenic
22	41177682	C	CA	C41177685A	EP300	NM_001429.4(EP300):c.5973dup:p.Gln1992fs	coding	Pathogenic
22	41178506	TCAG	T	G41178509A	EP300	NM_001429.4(EP300):c.6798_6800del:p.Gln2268del	coding	Benign/Likely_benign
22	41178622	CCAAT	C	T41178626G	EP300	NM_001429.4(EP300):c.6915_6918del:p.Asn2305fs	coding	Pathogenic
22	41178808	GC	G	C41178811G	EP300	NM_001429.4(EP300):c.7100del:p.Pro2367fs	coding	Pathogenic
22	41178930	TCA	T	C41178933G	EP300	NM_001429.4(EP300):c.7220_7221CA[1]:p.Gln2408fs	coding	Pathogenic
22	41178965	TGTA	T	G41178969T	EP300	NM_001429.4(EP300):c.*10_*12GTA[1]	noncoding	Benign
22	41511874	AG	CT	A41511874C	ACO2	NM_001098.3(ACO2):c.433-2_433-1inv	noncoding	Pathogenic
22	41527299	CAGGT	C	A41527300G	ACO2	NM_001098.3(ACO2):c.1966_1969del:p.Arg656fs	coding	Pathogenic
22	41527918	CAG	C	A41527919G	ACO2	NM_001098.3(ACO2):c.2105_2106del:p.Gln702fs	coding	Pathogenic
22	41528521	A	AC	A41528524C	ACO2	NM_001098.3(ACO2):c.2253dup:p.Ile752fs	coding	Pathogenic
22	41528594	TGAAG	T	G41528598C	ACO2	NM_001098.3(ACO2):c.2328_2331del:p.Lys776fs	coding	Pathogenic
22	41528606	AAC	A	C41528608G	ACO2	NM_001098.3(ACO2):c.2338_2339del:p.Gln780fs	coding	Pathogenic
22	41763257	TG	T	G41763259T	MEI1	NM_152513.4(MEI1):c.2206del:p.Val736fs	coding	Pathogenic
22	41926276	GC	AA	G41926276A	TNFRSF13C	NM_052945.3(TNFRSF13C):c.191_192delinsTT:p.Gly64Val	coding	Benign
22	42058489	GAA	G	A42058499T	NAGA	NM_000262.3(NAGA):c.*1788_*1789del	noncoding	Benign
22	42086214	AG	A	G42086216A	NDUFA6	NM_002490.6(NDUFA6):c.355del:p.Leu119fs	coding	Pathogenic
22	42086237	TTC	T	C42086239G	NDUFA6	NM_002490.6(NDUFA6):c.331_332del:p.Glu111fs	coding	Pathogenic
22	42086260	TA	T	A42086262C	NDUFA6	NM_002490.6(NDUFA6):c.309del:p.Met104fs	coding	Pathogenic
22	42179638	CG	C	G42179640A	TCF20	NM_001378418.1(TCF20):c.5719del:p.Arg1907fs	coding	Pathogenic
22	42209919	CCA	C	C42209922G	TCF20	NM_005650.3(TCF20):c.5383_5384TG[1]:p.Cys1795fs	coding	Pathogenic
22	42209953	TG	T	G42209957T	TCF20	NM_005650.3(TCF20):c.5352del:p.Arg1785fs	coding	Pathogenic
22	42210217	ACT	A	C42210220G	TCF20	NM_001378418.1(TCF20):c.5087_5088del:p.Glu1696fs	coding	Pathogenic
22	42210236	C	CT	G42210238T	TCF20	NM_005650.3(TCF20):c.5069dup:p.Pro1692fs	coding	Pathogenic
22	42210320	CCTCA	C	C42210323A	TCF20	NM_001378418.1(TCF20):c.4982_4985del:p.Val1661fs	coding	Pathogenic
22	42210563	CCT	C	C42210566G	TCF20	NM_005650.3(TCF20):c.4739_4740AG[1]:p.Arg1581fs	coding	Pathogenic
22	42210861	G	GAACC	T42210867A	TCF20	NM_005650.3(TCF20):c.4441_4444dup:p.Ser1482fs	coding	Pathogenic
22	42210937	CG	C	G42210939C	TCF20	NM_005650.3(TCF20):c.4368del:p.Gly1457fs	coding	Pathogenic
22	42211468	CT	C	T42211470C	TCF20	NM_005650.3(TCF20):c.3837del:p.Asp1280fs	coding	Pathogenic
22	42211501	GTC	G	C42211505T	TCF20	NM_005650.3(TCF20):c.3801_3802GA[1]:p.Arg1268fs	coding	Pathogenic/Likely_pathogenic
22	42211545	C	CT	C42211547T	TCF20	NM_005650.3(TCF20):c.3760dup:p.Arg1254fs	coding	Pathogenic
22	42211700	A	AC	G42211703C	TCF20	NM_005650.3(TCF20):c.3605dup:p.Pro1203fs	coding	Pathogenic
22	42211787	CT	C	T42211789G	TCF20	NM_005650.3(TCF20):c.3518del:p.Lys1173fs	coding	Pathogenic
22	42211819	A	AG	C42211821G	TCF20	NM_005650.3(TCF20):c.3486dup:p.Cys1163fs	coding	Pathogenic
22	42212301	CT	C	T42212302C	TCF20	NM_001378418.1(TCF20):c.3004del:p.Arg1002fs	coding	Pathogenic
22	42212518	CTT	C	T42212521A	TCF20	NM_001378418.1(TCF20):c.2786_2787del:p.Lys929fs	coding	Pathogenic
22	42212620	TC	T	C42212623A	TCF20	NM_005650.3(TCF20):c.2685del:p.Arg896fs	coding	Pathogenic
22	42213216	TCA	T	C42213217G	TCF20	NM_005650.3(TCF20):c.2088_2089del:p.Glu697fs	coding	Pathogenic
22	42213494	AAC	A	C42213496G	TCF20	NM_005650.3(TCF20):c.1810_1811del:p.Val604fs	coding	Pathogenic
22	42213598	TG	T	G42213604T	TCF20	NM_005650.3(TCF20):c.1707del:p.Arg570fs	coding	Pathogenic
22	42213785	AG	A	G42213787T	TCF20	NM_005650.3(TCF20):c.1520del:p.Pro507fs	coding	Pathogenic
22	42214372	CCT	C	C42214373G	TCF20	NM_005650.3(TCF20):c.932_933del:p.Gln311fs	coding	Pathogenic
22	42214436	G	GT	A42214438T	TCF20	NM_001378418.1(TCF20):c.869dup:p.Tyr290Ter	coding	Pathogenic
22	42214683	AG	A	G42214684A	TCF20	NM_005650.3(TCF20):c.622del:p.Leu208fs	coding	Pathogenic
22	42214711	C	CA	G42214713A	TCF20	NM_005650.3(TCF20):c.594dup:p.Gly199fs	coding	Pathogenic
22	42214941	T	TG	T42214949G	TCF20	NM_005650.3(TCF20):c.364dup:p.Gln122fs	coding	Pathogenic
22	42214992	T	TGTGG	G42214998T	TCF20	NM_005650.3(TCF20):c.310_313dup:p.Gln105fs	coding	Pathogenic
22	42619781	CGAA	C	A42619783C	CYB5R3	NM_000398.7(CYB5R3):c.895_897del:p.Phe299del	coding	Pathogenic
22	42619859	ACAT	A	T42619862G	CYB5R3	NM_000398.7(CYB5R3):c.817_819del:p.Met273del	coding	Pathogenic
22	42619910	TCTC	T	C42619914A	CYB5R3	NM_000398.7(CYB5R3):c.763_765GAG[1]:p.Glu256del	coding	Pathogenic
22	44157972	T	TG	T44157973G	PARVB	NM_001003828.2(PARVB):c.943-10_943-9insG	noncoding	Benign
22	46335773	CT	GG	C46335773G	TRMU	NM_018006.5(TRMU):c.9_10delinsGG:p.Leu4Val	coding	Benign
22	46335832	TG	T	G46335833C	TRMU	NM_018006.5(TRMU):c.69del:p.Leu23_Leu24insTer	coding	Pathogenic
22	46343340	C	CT	C46343347T	TRMU	NM_018006.5(TRMU):c.333dup:p.His112fs	coding	Pathogenic
22	46346480	CT	C	T46346483G	TRMU	NM_018006.5(TRMU):c.417del:p.Phe139fs	coding	Pathogenic
22	46350293	GTA	AT	G46350293A	TRMU	NM_018006.5(TRMU):c.481_483delinsAT:p.Val161fs	coding	Pathogenic
22	46350300	TC	T	C46350302T	TRMU	NM_018006.5(TRMU):c.490del:p.Leu164fs	coding	Pathogenic
22	46350387	TG	T	G46350393A	TRMU	NM_018006.5(TRMU):c.581del:p.Gly194fs	coding	Pathogenic
22	46353812	T	TGA	C46353820A	TRMU	NM_018006.5(TRMU):c.824_825dup:p.Pro276fs	coding	Pathogenic
22	46355521	T	TC	G46355525C	TRMU	NM_018006.5(TRMU):c.954dup:p.Ala319fs	coding	Pathogenic
22	46355527	AG	A	G46355528C	TRMU	NM_018006.5(TRMU):c.958del:p.Ala320fs	coding	Pathogenic
22	46363187	CCTGATGGTTCAAATTGAAGTTTCATTA	C	A46363218C	CELSR1	NM_014246.3(CELSR1):c.9036-27_9036-1del	coding	Benign
22	46364133	CGTGCGCGAGGAT	C	C46364137G	CELSR1	NM_014246.3(CELSR1):c.8886_8897del:p.Arg2965_Ser2968del	coding	Benign
22	46436178	A	AGAAGGCCCCACCTGCG	G46436181A	CELSR1	NM_014246.3(CELSR1):c.4517_4518insCGCAGGTGGGGCCTTC:p.Glu1509fs	coding	Benign
22	49904497	GT	G	T49904499A	ALG12	NM_024105.4(ALG12):c.1001del:p.Asn334fs	coding	Pathogenic
22	49907781	CGT	C	G49907782A	ALG12	NM_024105.4(ALG12):c.930_931del:p.Arg311fs	coding	Pathogenic
22	49913648	GC	G	C49913649A	ALG12	NM_024105.4(ALG12):c.117del:p.Gln40fs	coding	Pathogenic
22	49922288	CCTCAGCAGTCAGGACCGGCCTCTCCGATTCTTACCCG	C	T49922290C	CRELD2	NM_024324.5(CRELD2):c.593-322_593-286del	noncoding	Benign
22	50064040	A	AGCACCCCCACCCCACAGGCCACTCACCTCCCCG	C50064043A	MLC1	NM_015166.4(MLC1):c.1052_1053insCGGGGAGGTGAGTGGCCTGTGGGGTGGGGGTGC:p.Ala355_Arg356insSerGlyLeuTrpGlyGlyGlyAlaGlyGluVal	coding	Benign/Likely_benign
22	50070543	C	CA	C50070545A	MLC1	NM_015166.4(MLC1):c.754dup:p.Cys252fs	coding	Pathogenic
22	50076840	CTGAG	C	G50076842A	MLC1	NM_015166.3(MLC1):c.594_597del:p.Ser197_Tyr198insTer	coding	Pathogenic
22	50077470	CAGCAGGA	C	A50077471G	MLC1	NM_001376472.1(MLC1):c.449_455del	coding	Pathogenic
22	50077477	AG	A	G50077478C	MLC1	NM_015166.3(MLC1):c.448del:p.Leu150fs	coding	Pathogenic
22	50079809	GTGAATAACATTTACCACCTATTTCCAGCTCAACAAACATTTGCTGACACCATTCGTGGGAGTGGGGCTGTGGGTGTCAGGCGTCTGCGCGAAGCTCGTGTGAACTCACGTTTATTGCTGATGGGTTCAGGACTAGTTTGCATCCAAACCAAATTAAACACGTAGTGGTCACAGCAAACGTGGAAACAAACAATATCTGAAAGTTGGGAATCTGAAAAACAAGGCAGGAGGGGTTTTCCTTCTTTGAATAATAAAAGAAAAAAGGTAACAGATAAACCACACTTCAGGCCATTCACTAAAAATTATCCTGATTAGGACATAATGGTGGGGAGTCCTGCGTGCTCAGCCCGCTCTCCCCTCTGTGCGGCAAAGGCTGGGCTGGGCAGGAGCTTTACTGTCTGGGGGGCAACCTCGGGGGCCCCTCTCGGTGCCACAACGTCTGTGCGTGGGCACACACACAAGCACACATGGGCACACTGTCTGTCAGCCCCTCCGGCTTTCTCCCTGGCAGAGGCTGCCTGCAAGCTAGACTCACCACATTGGCGTTCCTCCTGGAGAC	G	T50079810G	MLC1	NM_015166.3(MLC1):c.298_423+108del	noncoding	Pathogenic
22	50079988	GTGGAAACAAACAATAT	C	G50079988C	MLC1	NM_015166.4(MLC1):c.337_353delinsG:p.Ile113fs	coding	Pathogenic
22	50083127	AC	A	C50083128G	MLC1	NM_015166.3(MLC1):c.223del:p.Val75fs	coding	Pathogenic
22	50084767	A	AG	C50084774G	MLC1	NM_015166.3(MLC1):c.135dup:p.Cys46fs	coding	Pathogenic
22	50084790	T	TGC	A50084793G	MLC1	NM_015166.4(MLC1):c.111_112dup:p.Gln38fs	coding	Pathogenic
22	50085821	G	GC	T50085824C	MLC1	NM_015166.3(MLC1):c.-527dup	noncoding	Benign
22	50219438	T	TA	G50219439A	TUBGCP6	NM_020461.4(TUBGCP6):c.4333_4334insT:p.His1445fs	coding	Pathogenic
22	50219993	A	AGT	C50219998G	TUBGCP6	NM_020461.4(TUBGCP6):c.4127_4128AC[3]:p.Glu1378fs	coding	Pathogenic
22	50221565	A	AG	C50221572G	TUBGCP6	NM_020461.4(TUBGCP6):c.2793dup:p.Ser932fs	coding	Pathogenic
22	50226746	CG	C	G50226747C	TUBGCP6	NM_020461.4(TUBGCP6):c.1587del:p.Cys529fs	coding	Pathogenic
22	50244277	CAT	C	A50244278G	TUBGCP6	NM_020461.4(TUBGCP6):c.181_182del:p.Met61fs	coding	Pathogenic
22	50447464	CCA	C	C50447467G	SBF1	NM_002972.4(SBF1):c.5452-13_5452-12del	noncoding	Benign
22	50468363	GCCC	G	C50468366A	SBF1	NM_002972.4(SBF1):c.141+10_141+12del	noncoding	Benign
22	50524223	G	GATCAGCAGCC	G50524234A	SCO2	NM_005138.3(SCO2):c.179_188dup:p.Ile63fs	coding	Pathogenic
22	50525787	G	GA	C50525790A	TYMP	NM_001953.5(TYMP):c.1431dup:p.Leu478fs	coding	Pathogenic
22	50525808	A	AG	C50525814G	TYMP	NM_001953.5(TYMP):c.1410dup:p.Ser471fs	coding	Pathogenic
22	50525818	GAATGGC	G	A50525819G	TYMP	NM_001953.5(TYMP):c.1395_1400del:p.Pro466_Phe467del	coding	Pathogenic
22	50525867	T	TG	C50525869G	TYMP	NM_001953.5(TYMP):c.1351dup:p.Gln451fs	coding	Pathogenic
22	50525872	GCCGCTGAGCGCGGGGCCGTC	G	C50525876G	TYMP	NM_001953.5(TYMP):c.1327_1346del:p.Asp443fs	coding	Pathogenic
22	50525898	G	GC	A50525900C	TYMP	NM_001953.5(TYMP):c.1320dup:p.His441fs	coding	Pathogenic
22	50525907	GC	G	C50525909A	TYMP	NM_001953.5(TYMP):c.1311del:p.Trp437fs	coding	Pathogenic
22	50526089	G	GA	G50526091A	TYMP	NM_001953.5(TYMP):c.1211dup:p.Gly405fs	coding	Pathogenic
22	50526102	ACCAGCG	A	C50526109G	TYMP	NM_001953.5(TYMP):c.1187_1192CGCTGG[1]:p.Ala398_Leu399del	coding	Pathogenic
22	50526316	TC	T	C50526319G	TYMP	NM_001953.5(TYMP):c.1088del:p.Gly363fs	coding	Pathogenic
22	50526386	AGGGCCGAGC	TT	A50526386T	TYMP	NM_001953.5(TYMP):c.1010_1019delinsAA:p.Gly337fs	coding	Pathogenic
22	50526393	A	AGCCGTCGTCCAGCGCCGC	G50526413C	TYMP	NM_001953.5(TYMP):c.994_1011dup:p.Ala332_Gly337dup	coding	Pathogenic
22	50526719	AG	A	G50526721C	TYMP	NM_001953.5(TYMP):c.784del:p.Ser261_Leu262insTer	coding	Pathogenic
22	50527164	CCAG	C	A50527166G	TYMP	NM_001953.5(TYMP):c.763_765del:p.Leu255del	coding	Pathogenic
22	50527209	CG	C	G50527211C	TYMP	NM_001953.5(TYMP):c.720del:p.Val241fs	coding	Pathogenic
22	50529149	GC	G	C50529151G	TYMP	NM_001953.5(TYMP):c.403del:p.Ala135fs	coding	Pathogenic
22	50529278	GT	G	T50529279C	TYMP	NM_001953.5(TYMP):c.274del:p.Thr92fs	coding	Pathogenic/Likely_pathogenic
22	50529288	AGG	A	G50529289T	TYMP	NM_001953.5(TYMP):c.263_264del:p.Thr88fs	coding	Pathogenic
22	50529610	T	TG	C50529614G	TYMP	NM_001953.5(TYMP):c.99dup:p.Lys34fs	coding	Pathogenic
22	50529698	CA	C	A50529700G	TYMP	NM_001953.5(TYMP):c.11del:p.Ala3_Leu4insTer	coding	Pathogenic
22	50580643	TG	T	G50580645A	CHKB	NM_005198.5(CHKB):c.598del:p.Gln200fs	coding	Pathogenic
22	50581542	C	CA	T50581545A	CHKB	NM_005198.4(CHKB):c.458dup:p.Leu153fs	coding	Pathogenic
22	50582313	TG	T	G50582315T	CHKB	NM_005198.4(CHKB):c.268del:p.His90fs	coding	Pathogenic
22	50582835	GGCTCGGTTCCTTCCGGCCGC	G	T50582842C	CHKB	NM_005198.4(CHKB):c.-74_-55del	noncoding	Benign
22	50625182	C	CGGGG	T50625189G	ARSA	NM_000487.6(ARSA):c.1489_1492dup:p.Arg498fs	coding	Pathogenic/Likely_pathogenic
22	50625182	C	CG	T50625189G	ARSA	NM_000487.6(ARSA):c.1492dup:p.Arg498fs	coding	Pathogenic/Likely_pathogenic
22	50625256	GGTCACAGCTGC	G	A50625260T	ARSA	NM_000487.6(ARSA):c.1408_1418del:p.Ala470fs	coding	Pathogenic
22	50625330	C	CG	C50625333G	ARSA	NM_000487.6(ARSA):c.1344dup:p.Gly449fs	coding	Pathogenic/Likely_pathogenic
22	50625443	GTGGTATCAC	G	G50625446T	ARSA	NM_000487.6(ARSA):c.1223_1231del:p.Ser408_Thr410del	coding	Pathogenic/Likely_pathogenic
22	50625585	TGAA	T	A50625590T	ARSA	NM_000487.6(ARSA):c.1198_1200TTC[1]:p.Phe401del	coding	Pathogenic
22	50625662	AAG	A	G50625668C	ARSA	NM_000487.6(ARSA):c.1121_1122CT[2]:p.Phe376fs	coding	Pathogenic
22	50625662	AAGAG	A	G50625666C	ARSA	NM_000487.6(ARSA):c.1123_1126del:p.Leu375fs	coding	Pathogenic
22	50625955	A	AG	C50625961G	ARSA	NM_000487.6(ARSA):c.1087dup:p.Leu363fs	coding	Pathogenic
22	50625996	TG	T	G50626000C	ARSA	NM_000487.6(ARSA):c.1046del:p.Pro349fs	coding	Pathogenic
22	50626174	CAGA	C	A50626177G	ARSA	NM_000487.6(ARSA):c.956_958del:p.Phe319del	coding	Pathogenic
22	50626608	GA	TT	G50626608T	ARSA	NM_000487.6(ARSA):c.836_837delinsAA:p.Ile279Lys	coding	Pathogenic
22	50626895	TG	T	G50626898C	ARSA	NM_000487.6(ARSA):c.622del:p.His208fs	coding	Pathogenic/Likely_pathogenic
22	50626934	CA	C	A50626935G	ARSA	NM_000487.6(ARSA):c.583del:p.Trp195fs	coding	Pathogenic
22	50626935	A	AG	C50626942G	ARSA	NM_000487.6(ARSA):c.582dup:p.Trp195fs	coding	Pathogenic
22	50626972	TG	T	G50626975A	ARSA	NM_000487.6(ARSA):c.545del:p.Pro182fs	coding	Pathogenic/Likely_pathogenic
22	50626975	G	GA	T50626977A	ARSA	NM_000487.6(ARSA):c.542dup:p.Leu183fs	coding	Pathogenic/Likely_pathogenic
22	50627016	TGGCCGGC	T	C50627019G	ARSA	NM_000487.6(ARSA):c.495_501del:p.Pro166fs	coding	Pathogenic/Likely_pathogenic
22	50627050	GC	G	C50627053T	ARSA	NC_000022.11:g.50627053del	coding	Pathogenic
22	50627179	T	TA	C50627181A	ARSA	NM_000487.6(ARSA):c.451dup:p.Tyr151fs	coding	Pathogenic
22	50627212	T	TG	C50627220G	ARSA	NM_000487.6(ARSA):c.418dup:p.His140fs	coding	Pathogenic
22	50627326	AG	A	G50627328C	ARSA	NM_000487.6(ARSA):c.304del:p.Leu102fs	coding	Pathogenic/Likely_pathogenic
22	50627328	GC	G	C50627335G	ARSA	NM_000487.6(ARSA):c.302del:p.Gly101fs	coding	Pathogenic
22	50627328	G	GC	G50627336C	ARSA	NM_000487.6(ARSA):c.302dup:p.Leu102fs	coding	Pathogenic
22	50627337	G	GA	G50627338A	ARSA	NM_000487.6(ARSA):c.293_294insT:p.Arg99fs	coding	Pathogenic/Likely_pathogenic
22	50627338	GA	AG	G50627338A	ARSA	NM_000487.6(ARSA):c.292_293delinsCT:p.Ser98Leu	coding	Pathogenic
22	50627390	C	CG	T50627393G	ARSA	NM_000487.6(ARSA):c.240dup:p.Gly81fs	coding	Pathogenic/Likely_pathogenic
22	50627579	AG	A	G50627581C	ARSA	NM_000487.6(ARSA):c.200del:p.Pro67fs	coding	Pathogenic
22	50627584	CG	C	G50627585T	ARSA	NM_000487.6(ARSA):c.195del:p.Phe64_Tyr65insTer	coding	Pathogenic/Likely_pathogenic
22	50627663	GCCCAGGTC	G	G50627668T	ARSA	NM_000487.6(ARSA):c.109_116del:p.Asp37fs	coding	Pathogenic/Likely_pathogenic
22	50627745	GC	G	C50627747A	ARSA	NM_000487.6(ARSA):c.34del:p.Ala12fs	coding	Pathogenic
22	50704202	G	GA	C50704206A	SHANK3	NM_033517.1(SHANK3):c.1728dup:p.Arg577fs	coding	Pathogenic
22	50715006	CAG	C	A50715009G	SHANK3	NM_001372044.2(SHANK3):c.2452_2453del:p.Arg818fs	coding	Pathogenic
22	50715032	AC	A	C50715035G	SHANK3	NM_001372044.2(SHANK3):c.2478del:p.Ala827fs	coding	Pathogenic
22	50715727	AG	A	G50715731A	SHANK3	NM_033517.1(SHANK3):c.2328del:p.Ile777fs	coding	Pathogenic
22	50720526	CG	C	G50720528C	SHANK3	NM_033517.1(SHANK3):c.2695del:p.Ala899fs	coding	Pathogenic
22	50720561	CCCGCGGCCACCCCGCCCGAGCGACCCAAGCGCCGG	C	A50720570G	SHANK3	NM_001372044.2(SHANK3):c.2962_2996del:p.Thr988fs	coding	Pathogenic
22	50720596	GC	G	C50720598G	SHANK3	NM_001372044.2(SHANK3):c.2990del:p.Pro997fs	coding	Pathogenic
22	50720670	A	AGCCGCAGC	A50720685G	SHANK3	NM_033517.1(SHANK3):c.2844_2851dup:p.Lys951fs	coding	Pathogenic
22	50720739	T	TGGCCGTGGGCAGCCCC	T50720758C	SHANK3	NM_033517.1(SHANK3):c.2909_2924dup:p.Pro976fs	coding	Pathogenic
22	50720758	TC	T	C50720761G	SHANK3	NM_033517.1(SHANK3):c.2928del:p.Gly977fs	coding	Pathogenic
22	50720769	GCAGC	G	C50720770T	SHANK3	NM_001372044.2(SHANK3):c.3162_3165del:p.Phe1056fs	coding	Pathogenic
22	50720872	CCCGGCCAAGGA	C	C50720878G	SHANK3	NM_001372044.2(SHANK3):c.3270_3280del:p.Lys1091fs	coding	Pathogenic
22	50720928	TG	T	G50720933C	SHANK3	NM_001372044.2(SHANK3):c.3325del:p.Ala1109fs	coding	Pathogenic
22	50720931	GGGCCATCGAGGGCAGCGCCCCCGGC	G	G50720933C	SHANK3	NM_033517.1:c.3100_3124del25	coding	Pathogenic
22	50721015	GC	G	C50721019A	SHANK3	NM_033517.1(SHANK3):c.3186del:p.Thr1063fs	coding	Pathogenic
22	50721040	G	GCTGCCCTCCCCGGTGT	G50721064C	SHANK3	NM_001372044.2(SHANK3):c.3440_3455dup:p.Lys1153fs	coding	Pathogenic
22	50721086	AGCCTG	A	C50721088G	SHANK3	NM_033517.1(SHANK3):c.3255_3259del:p.Ser1085fs	coding	Pathogenic
22	50721202	GC	G	C50721205T	SHANK3	NM_001372044.2(SHANK3):c.3597del:p.Ser1200fs	coding	Pathogenic
22	50721212	T	CC	T50721212C	SHANK3	NM_033517.1(SHANK3):c.3379delinsCC:p.Ser1127fs	coding	Pathogenic
22	50721256	CCT	C	C50721257G	SHANK3	NM_033517.1(SHANK3):c.3424_3425del:p.Leu1142fs	coding	Pathogenic/Likely_pathogenic
22	50721454	TG	T	G50721456C	SHANK3	NM_001372044.1(SHANK3):c.3848del:p.Gly1283fs	coding	Pathogenic
22	50721465	T	TG	T50721466G	SHANK3	NM_001372044.2(SHANK3):c.3857_3858insG:p.Val1287fs	coding	Pathogenic
22	50721469	G	GC	A50721471C	SHANK3	NM_033517.1(SHANK3):c.3637dup:p.His1213fs	coding	Pathogenic
22	50721473	G	GC	A50721476C	SHANK3	NM_001372044.2(SHANK3):c.3867dup:p.Thr1290fs	coding	Pathogenic
22	50721504	TG	T	G50721512C	SHANK3	NM_033517.1(SHANK3):c.3679del:p.Ala1227fs	coding	Pathogenic/Likely_pathogenic
22	50721504	T	TG	C50721513G	SHANK3	NM_033517.1(SHANK3):c.3679dup:p.Ala1227fs	coding	Pathogenic
22	50721580	GCCCCTGCCCAGCC	G	C50721584G	SHANK3	NM_033517.1(SHANK3):c.3751_3763del:p.Leu1251fs	coding	Pathogenic
22	50721584	CTGCCCAGCCCCCG	C	T50721585G	SHANK3	NM_033517.1(SHANK3):c.3752_3764del:p.Leu1251fs	coding	Pathogenic
22	50721585	TGCCCAGCCCCCGG	T	G50721597T	SHANK3	NM_033517.1(SHANK3):c.3764_3776del:p.Arg1255fs	coding	Pathogenic
22	50721591	G	GC	G50721597C	SHANK3	NM_001372044.2(SHANK3):c.3988dup:p.Arg1330fs	coding	Pathogenic
22	50721596	C	CG	C50721600G	SHANK3	NM_001372044.2(SHANK3):c.3991dup:p.Ala1331fs	coding	Pathogenic
22	50721715	TG	T	G50721716A	SHANK3	NM_033517.1(SHANK3):c.3883delG:p.Glu1295Argfs	coding	Pathogenic
22	50721765	AAG	A	A50721768T	SHANK3	NM_001372044.2(SHANK3):c.4160_4161del:p.Glu1387fs	coding	Pathogenic
22	50721800	CT	C	T50721801C	SHANK3	NM_001372044.2(SHANK3):c.4193del:p.Leu1398fs	coding	Pathogenic
22	50721860	AGT	A	T50721862A	SHANK3	NM_033517.1(SHANK3):c.4029_4030del:p.Ser1343fs	coding	Pathogenic
22	50721897	CTG	C	T50721898G	SHANK3	NM_001372044.2(SHANK3):c.4290_4291del:p.Val1432fs	coding	Pathogenic
22	50721914	GAC	G	A50721919G	SHANK3	NM_001372044.2(SHANK3):c.4311_4312del:p.Arg1438fs	coding	Pathogenic
22	50721941	CTG	C	T50721942G	SHANK3	NM_033517.1(SHANK3):c.4109_4110del:p.Leu1370fs	coding	Pathogenic
22	50722060	GC	G	C50722062A	SHANK3	NM_033517.1(SHANK3):c.4229del:p.Pro1410fs	coding	Pathogenic
22	50722347	A	ACAAGGAC	A50722355C	SHANK3	NM_001372044.2(SHANK3):c.4740_4746dup:p.Thr1583fs	coding	Pathogenic
22	50722352	GAC	G	A50722355G	SHANK3	NM_033517.1(SHANK3):c.4522_4523delAC	coding	Pathogenic
22	50722389	TG	T	G50722392C	SHANK3	NM_033517.1(SHANK3):c.4559del:p.Gly1520fs	coding	Pathogenic
22	50722397	CT	C	T50722398G	SHANK3	NM_033517.1(SHANK3):c.4565del:p.Leu1522fs	coding	Pathogenic
22	50730755	T	TCAGCG	C50730770G	SHANK3	NM_033517.1(SHANK3):c.4649_4653dup	coding	Pathogenic/Likely_pathogenic
22	50730768	G	GCGCAC	C50730770G	SHANK3	NM_001372044.2(SHANK3):c.4878_4879insGCACC:p.Pro1627fs	coding	Pathogenic
22	50731016	A	AGTCGCTCCCCCTCGCC	C50731038T	SHANK3	NM_033517.1(SHANK3):c.4906_4921dup:p.Pro1641fs	coding	Pathogenic
MT	593	T	TC	T596C	MT-TF	NC_012920.1(MT-CYB):m.595dup	noncoding	Benign
MT	3902	ACCTTGC	GCAAGGT	A3902G	MT-ND1	m.3902_3908invACCTTGC	noncoding	Pathogenic
MT	4314	TA	T	A4317C	MT-TI	NC_012920.1:m.4317delA	noncoding	Benign
MT	4365	C	CA	T4370A	MT-TQ	m.4369_4370insA	noncoding	Pathogenic
MT	4997	C	CA	T5002A	MT-ND2	NC_012920.1:m.5001dup	noncoding	Pathogenic
MT	5131	TAA	T	A5133C	MT-ND2	m.5132_5133delAA	noncoding	Pathogenic
MT	5536	A	AT	A5537T	MT-TW	NC_012920.1(MT-CYB):m.5536_5537insT	noncoding	Pathogenic
MT	5537	A	AT	G5538T	MT-TW	m.5537_5538insT	noncoding	Pathogenic
MT	5884	AT	A	T5888A	MT-TY	m.5888delT	noncoding	Pathogenic
MT	5953	CA	C	A5954C	MT-CO1	NC_012920.1(MT-CO1):m.5954del	noncoding	Pathogenic
MT	6607	TC	T	C6608T	MT-CO1	W236fs	noncoding	Pathogenic
MT	6687	T	TCAC	C6689A	MT-CO1	NC_012920.1:m.6688_6689insACC	noncoding	Pathogenic
MT	6691	GA	G	A6698G	MT-CO1	NC_012920.1(MT-CO1):m.6698del	noncoding	Pathogenic
MT	6716	A	AGGG	T6719G	MT-CO1	NC_012920.1:m.6717_6718insGGG	noncoding	Pathogenic
MT	6743	T	TTGG	G6744T	MT-CO1	NC_012920.1:m.6743_6744insTGG	noncoding	Pathogenic
MT	6748	TC	T	C6750T	MT-CO1	NC_012920.1(MT-CO1):m.6750del	noncoding	Pathogenic
MT	6814	AT	A	T6817C	MT-CO1	NC_012920.1(MT-CO1):m.6817del	noncoding	Pathogenic
MT	6857	CA	C	A6860G	MT-CO1	NC_012920.1(MT-CO1):m.6860del	noncoding	Pathogenic
MT	6899	GA	G	A6902T	MT-CO1	NC_012920.1(MT-CO1):m.6902del	noncoding	Pathogenic
MT	6924	GC	G	C6927T	MT-CO1	NC_012920.1(MT-CO1):m.6927del	noncoding	Pathogenic
MT	6935	CA	C	A6936T	MT-CO1	I345fs	noncoding	Pathogenic
MT	6938	CT	C	T6941C	MT-CO1	NC_012920.1(MT-CO1):m.6941del	noncoding	Pathogenic
MT	7465	A	AC	A7472C	MT-TS1	m.7471_7472insC	noncoding	Pathogenic
MT	7637	GA	G	A7639G	MT-CO2	NC_012920.1(MT-CO2):m.7639del	noncoding	Pathogenic
MT	7680	T	TGTC	C7681G	MT-CO2	NC_012920.1:m.7680_7681insGTC	noncoding	Pathogenic
MT	7729	AAAACTAACTAATACTAACATCTCAGACGCTCAGGAAATAGAAACCGTCTGAACTATCCTGCCCGCCATCATCCTAGTCCTCATCGCCCTCCCATCCCTACGCATCCTTTACATAACAGACGAGGTCAACGATCCCTCCCTTACCATCAAATCAATTGGCCACCAATGGTACTGAACCTACGAGTACACCGACTACGGCGGACTAATCTTCAACTCCTACATACTTCCCCCATTATTCCTAGAACCAGGCGACCTGCGACTCCTTGACGTTGACAATCGAGTAGTACTCCCGATTGAAGCCCCCATTCGTATAATAATTACATCACAAGACGTCTTGCACTCATGAGCTGTCCCCACATTAGGCTTAAAAACAGATGCAATTCCCGGACGTCTAAACCAAACCACTTTCACCGCTACACGACCGGGGGTATACTACGGTCAATGCTCTGAAATCTGTGGAGCAAACCACAGTTTCATGCCCATCGTCCTAGAATTAATTCCCCTAAAAATCTTTGAAATAGGGCCCGTATTTACCCTATAGCACCCCCTCTACCCCCTCTAGAGCCCACTGTAAAGCTAACTTAGCATTAACCTTTTAAGTTAAAGATTAAGAGAACCAACACCTCTTTACAGTGAAATGCCCCAACTAAATACTACCGTATGGCCCACCATAATTACCCCCATACTCCTTACACTATTCCTCATCACCCAACTAAAAATATTAAACACAAACTACCACCTACCTCCCTCACCAAAGCCCATAAAAATAAAAAATTATAACAAACCCTGAGAACCAAAATGAACGAAAATCTGTTCGCTTCATTCATTGCCCCCACAATCCTAGGCCTACCCGCCGCAGTACTGATCATTCTATTTCCCCCTCTATTGATCCCCACCTCCAAATATCTCATCAACAACCGACTAATCACCACCCAACAATGACTAATCAAACTAACCTCAAAACAAATGATAACCATACACAACACTAAAGGACGAACCTGATCTCTTATACTAGTATCCTTAATCATTTTTATTGCCACAACTAACCTCCTCGGACTCCTGCCTCACTCATTTACACCAACCACCCAACTATCTATAAACCTAGCCATGGCCATCCCCTTATGAGCGGGCACAGTGATTATAGGCTTTCGCTCTAAGATTAAAAATGCCCTAGCCCACTTCTTACCACAAGGCACACCTACACCCCTTATCCCCATACTAGTTATTATCGAAACCATCAGCCTACTCATTCAACCAATAGCCCTGGCCGTACGCCTAACCGCTAACATTACTGCAGGCCACCTACTCATGCACCTAATTGGAAGCGCCACCCTAGCAATATCAACCATTAACCTTCCCTCTACACTTATCATCTTCACAATTCTAATTCTACTGACTATCCTAGAAATCGCTGTCGCCTTAATCCAAGCCTACGTTTTCACACTTCTAGTAAGCCTCTACCTGCACGACAACACATAATGACCCACCAATCACATGCCTATCATATAGTAAAACCCAGCCCATGACCCCTAACAGGGGCCCTCTCAGCCCTCCTAATGACCTCCGGCCTAGCCATGTGATTTCACTTCCACTCCATAACGCTCCTCATACTAGGCCTACTAACCAACACACTAACCATATACCAATGATGGCGCGATGTAACACGAGAAAGCACATACCAAGGCCACCACACACCACCTGTCCAAAAAGGCCTTCGATACGGGATAATCCTATTTATTACCTCAGAAGTTTTTTTCTTCGCAGGATTTTTCTGAGCCTTTTACCACTCCAGCCTAGCCCCTACCCCCCAATTAGGAGGGCACTGGCCCCCAACAGGCATCACCCCGCTAAATCCCCTAGAAGTCCCACTCCTAAACACATCCGTATTACTCGCATCAGGAGTATCAATCACCTGAGCTCACCATAGTCTAATAGAAAACAACCGAAACCAAATAATTCAAGCACTGCTTATTACAATTTTACTGGGTCTCTATTTTACCCTCCTACAAGCCTCAGAGTACTTCGAGTCTCCCTTCACCATTTCCGACGGCATCTACGGCTCAACATTTTTTGTAGCCACAGGCTTCCACGGACTTCACGTCATTATTGGCTCAACTTTCCTCACTATCTGCTTCATCCGCCAACTAATATTTCACTTTACATCCAAACATCACTTTGGCTTCGAAGCCGCCGCCTGATACTGGCATTTTGTAGATGTGGTTTGACTATTTCTGTATGTCTCCATCTATTGATGAGGGTCTTACTCTTTTAGTATAAATAGTACCGTTAACTTCCAATTAACTAGTTTTGACAACATTCAAAAAAGAGTAATAAACTTCGCCTTAATTTTAATAATCAACACCCTCCTAGCCTTACTACTAATAATTATTACATTTTGACTACCACAACTCAACGGCTACATAGAAAAATCCACCCCTTACGAGTGCGGCTTCGACCCTATATCCCCCGCCCGCGTCCCTTTCTCCATAAAATTCTTCTTAGTAGCTATTACCTTCTTATTATTTGATCTAGAAATTGCCCTCCTTTTACCCCTACCATGAGCCCTACAAACAACTAACCTGCCACTAATAGTTATGTCATCCCTCTTATTAATCATCATCCTAGCCCTAAGTCTGGCCTATGAGTGACTACAAAAAGGATTAGACTGAACCGAATTGGTATATAGTTTAAACAAAACGAATGATTTCGACTCATTAAATTATGATAATCATATTTACCAAATGCCCCTCATTTACATAAATATTATACTAGCATTTACCATCTCACTTCTAGGAATACTAGTATATCGCTCACACCTCATATCCTCCCTACTATGCCTAGAAGGAATAATACTATCGCTGTTCATTATAGCTACTCTCATAACCCTCAACACCCACTCCCTCTTAGCCAATATTGTGCCTATTGCCATACTAGTCTTTGCCGCCTGCGAAGCAGCGGTGGGCCTAGCCCTACTAGTCTCAATCTCCAACACATATGGCCTAGACTACGTACATAACCTAAACCTACTCCAATGCTAAAACTAATCGTCCCAACAATTATATTACTACCACTGACATGACTTTCCAAAAAACACATAATTTGAATCAACACAACCACCCACAGCCTAATTATTAGCATCATCCCTCTACTATTTTTTAACCAAATCAACAACAACCTATTTAGCTGTTCCCCAACCTTTTCCTCCGACCCCCTAACAACCCCCCTCCTAATACTAACTACCTGACTCCTACCCCTCACAATCATGGCAAGCCAACGCCACTTATCCAGTGAACCACTATCACGAAAAAAACTCTACCTCTCTATACTAATCTCCCTACAAATCTCCTTAATTATAACATTCACAGCCACAGAACTAATCATATTTTATATCTTCTTCGAAACCACACTTATCCCCACCTTGGCTATCATCACCCGATGAGGCAACCAGCCAGAACGCCTGAACGCAGGCACATACTTCCTATTCTACACCCTAGTAGGCTCCCTTCCCCTACTCATCGCACTAATTT	A	A7731C	covers_10_genes,_none_of_which_curated_to_show_dosage_sensitivity	NC_012920.1:m.7730_11255del3526	noncoding	Pathogenic
MT	7789	G	GCTC	C7791T	MT-CO2	NC_012920.1:m.7790_7791insTCC	noncoding	Pathogenic
MT	7814	G	GCCC	T7818C	MT-CO2	NC_012920.1:m.7815_7816insCCC	noncoding	Pathogenic
MT	8041	AAT	A	T8043A	MT-CO2	m.8042_8043delAT	noncoding	Pathogenic
MT	8086	AT	A	T8088A	MT-CO2	NC_012920.1:m.8088delT	noncoding	Pathogenic
MT	8418	T	TTAA	C8421A	MT-ATP8	NC_012920.1:m.8420_8421insATA	noncoding	Pathogenic
MT	8431	C	CCCA	A8432C	MT-ATP8	NC_012920.1:m.8431_8432insCCA	noncoding	Pathogenic
MT	8560	C	CCCA	A8565C	MT-ATP8	NC_012920.1:m.8561_8562insCAC	noncoding	Pathogenic
MT	8617	A	AT	C8619T	MT-ATP6	m.8618dupT	noncoding	Pathogenic
MT	8750	T	TAAA	T8753A	MT-ATP6	NC_012920.1:m.8751_8752insAAA	noncoding	Pathogenic
MT	8993	TG	CA	T8993C	MT-ATP6	NC_012920.1:m.8993_8994inv	noncoding	Pathogenic
MT	9203	CAT	C	T9205A	MT-ATP6;MT-CO3	m.9205_9206delTA	noncoding	Pathogenic
MT	9273	T	TATC	C9274A	MT-CO3	NC_012920.1:m.9273_9274insATC	noncoding	Pathogenic
MT	9429	G	GCCC	T9430C	MT-CO3	NC_012920.1:m.9429_9430insCCC	noncoding	Pathogenic
MT	9431	C	CA	C9432A	MT-CO3	NC_012920.1:m.9431_9432insA	noncoding	Pathogenic
MT	9441	C	CTTT	C9444T	MT-CO3	NC_012920.1:m.9441_9442insTTT	noncoding	Pathogenic
MT	9479	TTTTTTCTTCGCAGGA	T	T9487G	MT-CO3	m.9487_9501delTCGCAGGATTTTTCT	noncoding	Pathogenic
MT	9531	A	AC	A9538C	MT-CO3	m.9537dupC	noncoding	Pathogenic
MT	12305	C	CA	T12311A	MT-TL2	NC_012920.1(MT-CYB):m.12310dup	noncoding	Benign
MT	12417	CA	C	A12425C	MT-ND5	NC_012920.1:m.12425del	noncoding	Pathogenic
MT	14243	G	GC	G14249C	MT-ND6	NC_012920.1:m.14248dupC	noncoding	Pathogenic
MT	14511	CTA	C	A14513T	MT-ND6	NC_012920.1:m.14513_14514del	noncoding	Pathogenic
MT	14780	AAATT	A	T14787C	MT-CYB	m.14787_14790delTTAA	noncoding	Pathogenic
MT	15939	C	CT	C15945T	MT-TT	NC_012920.1(MT-CYB):m.15944dup	noncoding	Benign
MT	15939	CT	C	T15944C	MT-TT	NC_012920.1(MT-CYB):m.15944del	noncoding	Benign
X	624388	T	TTTG	T624391G	SHOX	NM_000451.3(SHOX):c.-646_-645insTGT	noncoding	Pathogenic
X	634689	CAG	C	A634692G	SHOX	NM_000451.3(SHOX):c.350_351AG[1]:p.Arg118fs	coding	Pathogenic
X	634689	C	CAG	G634694A	SHOX	NM_000451.3(SHOX):c.350_351AG[3]:p.Arg119fs	coding	Pathogenic
X	644469	TAC	AG	T644469A	SHOX	NM_006883.2(SHOX):c.633+3382_633+3384delinsAG	coding	Pathogenic
X	644479	TC	T	C644485G	SHOX	NM_000451.3(SHOX):c.728del:p.Pro243fs	coding	Pathogenic
X	644479	T	TC	G644486C	SHOX	NM_000451.3(SHOX):c.728dup:p.Pro244fs	coding	Pathogenic
X	1288782	AATTTCTCCTG	A	A1288783T	CSF2RA	NM_001161529.2(CSF2RA):c.368_377del:p.Asn123fs	coding	Pathogenic
X	1294453	C	CACAGAAAGGTCGGTGAG	G1294472C	CSF2RA	NM_006140.5(CSF2RA):c.774_780+10dup	coding	Benign/Likely_benign
X	2875502	GACTCACATCACCTCCTCACATTC	G	C2875531A	GYG2	NM_001079855.2(GYG2):c.1039-279_1039-257del	noncoding	Benign
X	2938225	TC	T	C2938228A	ARSL	NM_000047.3(ARSL):c.1158del:p.Ile387fs	coding	Pathogenic
X	2958330	CAGA	C	A2958336G	ARSL	NM_001282631.2(ARSL):c.23+2045_23+2047del	coding	Pathogenic
X	2960404	GTCTC	G	C2960412A	ARSL	NM_000047.3(ARSL):c.-14_-13GA[3]	coding	Benign/Likely_benign
X	3112535	G	GGGTCCTAACGAGAAGAGATAATTACAATCAGGCTACCAGAGGAAGCCTTT	A3112624G	ARSF	NM_001201539.2(ARSF):c.*18_*67dup:p.Gly585_Ter591=	coding	Benign
X	7257367	ACCT	A	C7257371A	STS	NM_000351.7(STS):c.259+8_259+10del	noncoding	Benign/Likely_benign
X	8534414	TAA	T	A8534416G	ANOS1	NM_000216.4(ANOS1):c.1887_1888del:p.Tyr630fs	coding	Pathogenic
X	8536852	CT	C	T8536853G	ANOS1	NM_000216.4(ANOS1):c.1539del:p.Glu514fs	coding	Pathogenic
X	8539661	TA	T	A8539662C	ANOS1	NM_000216.4(ANOS1):c.1449+2del	noncoding	Pathogenic
X	8553929	ATAAG	A	G8553937T	ANOS1	NM_000216.4(ANOS1):c.1354+19_1354+22del	noncoding	Benign
X	9743600	GA	G	A9743601T	GPR143	NM_000273.3(GPR143):c.731del:p.Ile244fs	coding	Pathogenic
X	9748660	GA	G	A9748661T	GPR143	NM_000273.3(GPR143):c.461del:p.Ile154fs	coding	Pathogenic
X	9765647	GGGGCCCGC	G	C9765653G	GPR143	NM_000273.3(GPR143):c.163_170del:p.Ala55fs	coding	Pathogenic
X	10213979	C	CA	T10213981A	CLCN4	NM_001830.4(CLCN4):c.1876dup:p.Ile626fs	coding	Pathogenic
X	10449454	TG	T	G10449458C	MID1	NM_000381.4(MID1):c.1917del:p.Thr640fs	coding	Pathogenic
X	10449573	T	TG	C10449580G	MID1	NM_000381.4(MID1):c.1798dup:p.His600fs	coding	Pathogenic
X	10449714	TACCTGCGGAA	T	C10449717A	MID1	NM_033290.3(MID1):c.1656-8_1657delTTCCGCAGGT	coding	Pathogenic
X	10454913	T	TATCA	A10454920C	MID1	NM_000381.4(MID1):c.1608_1611dup:p.Ser538Ter	coding	Pathogenic
X	10454966	T	TC	A10454968C	MID1	NM_000381.4(MID1):c.1558dup:p.Glu520fs	coding	Pathogenic
X	10454977	ACT	A	C10454980T	MID1	NM_033290.4(MID1):c.1544_1545AG[1]:p.Thr518_Pro519insTer	coding	Pathogenic
X	10459645	C	CTGTT	C10459653T	MID1	NM_000381.4(MID1):c.1444_1447dup:p.Ser483fs	coding	Pathogenic
X	10459776	TATC	T	A10459780C	MID1	NM_033290.4(MID1):c.1311_1313GAT[1]:p.Met438del	coding	Pathogenic
X	10459787	T	TATCA	G10459792A	MID1	NM_000381.4(MID1):c.1302_1305dup:p.Ser436Ter	coding	Pathogenic
X	10495664	AT	A	T10495667G	MID1	NM_000381.4(MID1):c.783del:p.Lys261fs	coding	Pathogenic
X	10523192	T	TA	C10523193A	MID1	NM_000381.4(MID1):c.661-6_661-5insT	noncoding	Benign
X	10523193	CAA	C	A10523208G	MID1	NM_000381.4(MID1):c.661-8_661-7del	noncoding	Benign/Likely_benign
X	10523193	C	CA	G10523210A	MID1	NM_033290.3(MID1):c.661-7dupT	noncoding	Benign
X	11254716	CAAA	C	A11254736T	ARHGAP6	NM_013427.3(ARHGAP6):c.589-12_589-10del	noncoding	Benign
X	11294801	ATTTTATTTG	A	T11294802C	AMELX	NM_001142.2(AMELX):c.14_22del:p.Ile5_Ala8delinsThr	coding	Pathogenic
X	11298242	AC	A	C11298246T	AMELX	NM_001142.2(AMELX):c.113del:p.Pro38fs	coding	Pathogenic
X	11298274	AC	A	C11298276G	AMELX	NM_001142.2(AMELX):c.143del:p.Pro48fs	coding	Pathogenic
X	11298778	GC	G	C11298781T	AMELX	NM_001142.2(AMELX):c.378del:p.Tyr127fs	coding	Pathogenic
X	11298832	GC	G	C11298834A	AMELX	NM_001142.2(AMELX):c.431del:p.Pro144fs	coding	Pathogenic
X	11298898	GC	G	C11298902T	AMELX	NM_001142.2(AMELX):c.499del:p.Leu167fs	coding	Pathogenic
X	11762950	T	TATGCCAC	A11762964C	MSL3	NM_078629.4(MSL3):c.709_715dup:p.Asn239fs	coding	Pathogenic
X	11765526	CAGAG	C	A11765529T	MSL3	NM_078629.4(MSL3):c.969_970AG[1]:p.Glu324fs	coding	Pathogenic
X	11765677	G	GCAGCAGGACACATCCGC	T11765700G	MSL3	NM_078629.4(MSL3):c.1125_1141dup:p.Met381fs	coding	Pathogenic
X	11765723	GAA	G	A11765726G	MSL3	NM_078629.4(MSL3):c.1168_1169del:p.Lys390fs	coding	Pathogenic
X	11768607	TC	T	C11768609T	MSL3	NM_078629.4(MSL3):c.1208del:p.Pro403fs	coding	Pathogenic
X	11772187	A	AC	A11772194C	MSL3	NM_078629.4(MSL3):c.1319dup:p.Gly441fs	coding	Pathogenic
X	12498658	C	CT	C12498671T	FRMPD4	NM_001368397.1(FRMPD4):c.42-10dup	noncoding	Benign
X	12498658	CT	C	T12498670C	FRMPD4	NM_001368397.1(FRMPD4):c.42-10del	noncoding	Benign
X	12706923	C	CTTTTTTTTTTTTTT	G12706942T	FRMPD4	NM_001368397.1(FRMPD4):c.1287+13_1287+26dup	noncoding	Benign
X	12706923	CT	C	T12706941G	FRMPD4	NM_001368397.1(FRMPD4):c.1287+26del	noncoding	Benign
X	12716305	GC	G	C12716310T	FRMPD4	NM_014728.3(FRMPD4):c.1851del:p.Cys618fs	coding	Pathogenic
X	12887636	CAACT	C	A12887637G	TLR7	NM_016562.4(TLR7):c.2129_2132del:p.Gln710fs	coding	Pathogenic
X	13712297	T	TCA	A13712304C	TRAPPC2	NM_001011658.4(TRAPPC2):c.*2104_*2105TG[4]	noncoding	Benign
X	13714442	CT	C	T13714446C	TRAPPC2	NM_001011658.4(TRAPPC2):c.387del:p.Val130fs	coding	Pathogenic
X	13716052	TTCTTG	T	G13716057A	TRAPPC2	NM_001011658.4(TRAPPC2):c.271_275del:p.Gln91fs	coding	Pathogenic
X	13716085	CAT	C	A13716088G	TRAPPC2	NM_001011658.4(TRAPPC2):c.239_240AT[1]:p.Met81fs	coding	Pathogenic
X	13716089	T	TTATGAAATA	G13716090T	TRAPPC2	NM_001011658.4(TRAPPC2):c.239-1_239insTATTTCATA	noncoding	Pathogenic
X	13716097	AATT	A	T13716099A	TRAPPC2	NM_001011658.4(TRAPPC2):c.239-11_239-9del	noncoding	Pathogenic
X	13716554	GAC	G	C13716558A	TRAPPC2	NC_000023.11:g.13716556_13716557CA[1]	coding	Pathogenic
X	13716579	CCA	C	C13716582G	TRAPPC2	NM_001011658.4(TRAPPC2):c.189_190TG[1]:p.Val64fs	coding	Pathogenic
X	13716613	CAT	C	A13716614G	TRAPPC2	NM_001011658.4(TRAPPC2):c.157_158del:p.Met53fs	coding	Pathogenic
X	13719909	CAA	C	A13719913C	TRAPPC2	NM_001011658.4(TRAPPC2):c.53_54del:p.Val17_Phe18insTer	coding	Pathogenic
X	13719923	TC	T	C13719924A	TRAPPC2	NM_001011658.4(TRAPPC2):c.40del:p.Asp14fs	coding	Pathogenic
X	13735276	TGA	T	A13735278T	OFD1	NM_003611.3(OFD1):c.43_44del:p.Gln16fs	coding	Pathogenic
X	13735295	C	CA	G13735301A	OFD1	NM_003611.3(OFD1):c.65dup:p.Leu23fs	coding	Pathogenic
X	13735297	A	AT	A13735298T	OFD1	NM_003611.3(OFD1):c.62_63insT:p.Lys21fs	coding	Pathogenic
X	13736512	T	TG	C13736514G	OFD1	NM_003611.3(OFD1):c.147dup:p.His50fs	coding	Pathogenic
X	13736524	TGAGTG	T	T13736528A	OFD1	NM_003611.3(OFD1):c.162_166del:p.Ser54fs	coding	Pathogenic
X	13736639	TTC	T	C13736641G	OFD1	NM_003611.3(OFD1):c.275_276del:p.Ser92fs	coding	Pathogenic
X	13736655	GAAAGTGGTTTGGCAAAAGA	G	T13736660G	OFD1	NM_003611.3(OFD1):c.294_312del:p.Ser98fs	coding	Pathogenic
X	13736677	AG	A	G13736679T	OFD1	NM_003611.2(OFD1):c.312+1delG	coding	Pathogenic
X	13736679	GTAAAGTC	G	A13736681T	OFD1	NM_003611.3(OFD1):c.312+3_312+9del	noncoding	Pathogenic
X	13738844	A	AG	T13738847G	OFD1	NM_003611.2(OFD1):c.313dupG:p.Val105Glyfs	noncoding	Pathogenic
X	13738894	TC	T	C13738896A	OFD1	NM_003611.3(OFD1):c.363del:p.Ser122fs	coding	Pathogenic
X	13739016	TAAAG	T	G13739020A	OFD1	NM_003611.3(OFD1):c.400_403del:p.Glu134fs	coding	Pathogenic
X	13739026	CA	C	A13739031G	OFD1	NM_003611.3(OFD1):c.411del:p.Gly138fs	coding	Pathogenic
X	13739033	GT	G	T13739034A	OFD1	NM_003611.3(OFD1):c.412+2del	noncoding	Pathogenic
X	13744427	A	AT	A13744434T	OFD1	NM_003611.3(OFD1):c.431dup:p.Leu144fs	coding	Pathogenic
X	13744459	G	GCT	A13744462C	OFD1	NM_003611.3(OFD1):c.458_459dup:p.Lys154fs	coding	Pathogenic
X	13744506	CAG	C	G13744510T	OFD1	NM_003611.3(OFD1):c.506_507GA[1]:p.Asp170fs	coding	Pathogenic
X	13746341	T	TG	A13746343G	OFD1	NM_003611.3(OFD1):c.541dup:p.Asp181fs	coding	Pathogenic
X	13746347	G	GT	G13746351T	OFD1	NM_003611.3(OFD1):c.549dup:p.Ala184fs	coding	Pathogenic
X	13746360	T	TA	C13746362A	OFD1	NM_003611.3(OFD1):c.560dup:p.Tyr187Ter	coding	Pathogenic
X	13746394	TAAAGC	T	A13746395T	OFD1	NM_003611.3(OFD1):c.594_598del:p.Lys199_Leu200insTer	coding	Pathogenic
X	13746400	TA	T	A13746403T	OFD1	NM_003611.3(OFD1):c.602del:p.Asn201fs	coding	Pathogenic
X	13746411	AAG	A	G13746417A	OFD1	NM_003611.3(OFD1):c.612_613GA[2]:p.Glu206fs	coding	Pathogenic
X	13746415	GAGAAAT	G	A13746420G	OFD1	NM_003611.3(OFD1):c.619_624del:p.Ile207_Glu208del	coding	Pathogenic
X	13746450	CA	C	A13746454G	OFD1	NM_003611.3(OFD1):c.653del:p.Lys218fs	coding	Pathogenic
X	13746456	GTAA	G	T13746457G	OFD1	NM_003611.3(OFD1):c.654+2_654+4del	noncoding	Pathogenic
X	13746798	AC	A	C13746800G	OFD1	NM_003611.3(OFD1):c.675del:p.Glu226fs	coding	Pathogenic
X	13746805	TAGCAAAAATTAAAATGGA	T	T13746814A	OFD1	NM_003611.3(OFD1):c.689_706del:p.Ile230_Lys235del	coding	Pathogenic
X	13746826	CAA	C	A13746834G	OFD1	NM_003611.3(OFD1):c.709_710del:p.Lys237fs	coding	Pathogenic
X	13746826	CA	C	A13746835G	OFD1	NM_003611.3(OFD1):c.710del:p.Lys237fs	coding	Pathogenic
X	13746826	C	CA	G13746836A	OFD1	NM_003611.3(OFD1):c.710dup:p.Tyr238fs	coding	Pathogenic
X	13746827	AAAAAAAAAGTATG	A	A13746832G	OFD1	NM_003611.3(OFD1):c.707_719del:p.Lys236fs	coding	Pathogenic
X	13746836	GT	G	T13746837A	OFD1	NM_003611.3(OFD1):c.712del:p.Tyr238fs	coding	Pathogenic
X	13746912	C	CG	A13746916G	OFD1	NM_003611.3(OFD1):c.790dup:p.Glu264fs	coding	Pathogenic
X	13746915	G	GA	G13746920A	OFD1	NM_003611.3(OFD1):c.794dup:p.Ser266fs	coding	Pathogenic
X	13749434	CAAAAG	C	A13749438T	OFD1	NM_003611.3(OFD1):c.840_844del:p.Lys280fs	coding	Pathogenic
X	13749434	CAA	C	A13749437G	OFD1	NM_003611.3(OFD1):c.839_840del:p.Lys280fs	coding	Pathogenic
X	13749439	GAA	G	A13749441T	OFD1	NM_003611.3(OFD1):c.843_844del:p.Glu281fs	coding	Pathogenic
X	13749454	AG	A	G13749456C	OFD1	NM_003611.3(OFD1):c.858del:p.Arg286fs	coding	Pathogenic
X	13749472	GAT	G	A13749475G	OFD1	NM_003611.3(OFD1):c.875_876AT[1]:p.Met293fs	coding	Pathogenic
X	13749492	A	AAG	A13749498G	OFD1	NM_003611.3(OFD1):c.896_897GA[3]:p.Ala301fs	coding	Pathogenic
X	13749511	CAA	C	A13749513G	OFD1	NM_003611.3(OFD1):c.915_916del:p.Arg306fs	coding	Pathogenic
X	13749516	AG	A	G13749517T	OFD1	NM_003611.3(OFD1):c.919del:p.Val307fs	coding	Pathogenic
X	13751276	TA	T	A13751280G	OFD1	NM_003611.3(OFD1):c.967del:p.Ser323fs	coding	Pathogenic
X	13753383	GAAGGATG	TTTTTCCT	G13753383T	OFD1	NM_003611.3(OFD1):c.1071_1078delinsTTTTTCCT:p.Lys358_Asp360delinsPheSerTyr	coding	Pathogenic
X	13755126	TTTAA	T	A13755129G	OFD1	NM_003611.3(OFD1):c.1130-22_1130-19del	noncoding	Pathogenic
X	13755193	C	CA	G13755200A	OFD1	NM_003611.3(OFD1):c.1178dup:p.Glu394fs	coding	Pathogenic
X	13755204	GA	G	A13755206C	OFD1	NM_003611.3(OFD1):c.1185del:p.Glu395fs	coding	Pathogenic
X	13755207	CTCAA	C	A13755214T	OFD1	NM_003611.3(OFD1):c.1189_1192AATC[1]:p.Gln398fs	coding	Pathogenic
X	13755239	TGAG	T	A13755241T	OFD1	NM_003611.3(OFD1):c.1220_1221+1del	coding	Pathogenic
X	13755241	AG	A	G13755243T	OFD1	NM_003611.3(OFD1):c.1221+1del	coding	Pathogenic
X	13755242	GGT	G	G13755243A	OFD1	NM_003611.3(OFD1):c.1221+1_1221+2del	coding	Pathogenic
X	13756599	GC	G	C13756602A	OFD1	NM_003611.3(OFD1):c.1246del:p.Gln416fs	coding	Pathogenic
X	13756615	TAACAA	T	A13756624C	OFD1	NM_003611.3(OFD1):c.1263_1267AAAAC[1]:p.Gln423fs	coding	Pathogenic
X	13756673	AC	A	C13756674T	OFD1	NM_003611.3(OFD1):c.1318del:p.Leu439_Leu440insTer	coding	Pathogenic
X	13756674	CT	C	T13756675A	OFD1	NM_003611.3(OFD1):c.1319del:p.Leu440fs	coding	Pathogenic
X	13756675	TAAAAG	T	A13756678G	OFD1	NM_003611.3(OFD1):c.1322_1326del:p.Lys441fs	coding	Pathogenic
X	13756676	AAAAG	A	A13756679G	OFD1	NM_003611.3(OFD1):c.1323_1326del:p.Glu442fs	coding	Pathogenic
X	13756685	GA	G	A13756688C	OFD1	NM_003611.3(OFD1):c.1332del:p.Lys444fs	coding	Pathogenic
X	13756689	CTG	C	T13756690G	OFD1	NM_003611.3(OFD1):c.1334_1335del:p.Leu445fs	coding	Pathogenic
X	13756712	ATTAC	A	C13756716A	OFD1	NM_003611.3(OFD1):c.1360_1363del:p.Leu454fs	coding	Pathogenic
X	13756712	ATTACT	A	T13756714A	OFD1	NM_003611.3(OFD1):c.1358_1362del:p.Lys452_Leu453insTer	coding	Pathogenic
X	13756762	TA	T	A13756765C	OFD1	NM_003611.3(OFD1):c.1409del:p.Asn470fs	coding	Pathogenic
X	13757691	CTT	C	T13757693C	OFD1	NM_003611.3(OFD1):c.1445_1446del:p.Phe482fs	coding	Pathogenic
X	13757698	AAAGAACT	A	A13757700C	OFD1	NM_003611.3(OFD1):c.1452_1458del:p.Lys484fs	coding	Pathogenic
X	13758378	CA	C	A13758381G	OFD1	NM_003611.3(OFD1):c.1587del:p.Ala530fs	coding	Pathogenic
X	13760216	AG	A	G13760217T	OFD1	NM_003611.3(OFD1):c.1757del:p.Ser586fs	coding	Pathogenic
X	13760279	AG	A	G13760281A	OFD1	NM_003611.3(OFD1):c.1821del:p.Ile608fs	coding	Pathogenic
X	13760299	TG	T	G13760300C	OFD1	NM_003611.3(OFD1):c.1840del:p.Ala614fs	coding	Pathogenic
X	13760347	C	CAT	A13760349T	OFD1	NM_003611.3(OFD1):c.1888_1889insTA:p.Asn630fs	coding	Pathogenic
X	13760436	ACT	A	C13760439G	OFD1	NM_003611.3(OFD1):c.1977_1978CT[1]:p.Ser660fs	coding	Pathogenic
X	13760439	C	CT	G13760441T	OFD1	NM_003611.3(OFD1):c.1980dup:p.Ala661fs	coding	Pathogenic
X	13760448	G	GC	A13760452C	OFD1	NM_003611.3(OFD1):c.1991dup:p.Leu665fs	coding	Pathogenic
X	13760503	C	CA	T13760505A	OFD1	NM_003611.3(OFD1):c.2044dup:p.Ile682fs	coding	Pathogenic
X	13760514	GT	G	T13760516C	OFD1	NM_003611.3(OFD1):c.2056del:p.Ser686fs	coding	Pathogenic
X	13760531	AT	A	T13760536G	OFD1	NM_003611.3(OFD1):c.2076del:p.Phe692fs	coding	Pathogenic
X	13760582	GAAGA	G	A13760586G	OFD1	NM_003611.3(OFD1):c.2126_2129del:p.Glu709fs	coding	Pathogenic
X	13760582	G	GAAGA	G13760590A	OFD1	NM_003611.3(OFD1):c.2126_2129dup:p.Asn711fs	coding	Pathogenic
X	13760634	TC	T	C13760636G	OFD1	NM_003611.3(OFD1):c.2176del:p.Arg726fs	coding	Pathogenic
X	13761171	TC	T	C13761173A	OFD1	NM_003611.3(OFD1):c.2349del:p.Ile784fs	coding	Pathogenic
X	13767141	CAAATT	C	A13767142G	OFD1	NM_003611.3(OFD1):c.2615_2619del:p.Gln872fs	coding	Pathogenic
X	13767182	GC	G	C13767183A	OFD1	NM_003611.3(OFD1):c.2656del:p.Gln886fs	coding	Pathogenic
X	13767272	G	GT	A13767274T	OFD1	NM_003611.3(OFD1):c.2746dup:p.Tyr916fs	coding	Pathogenic
X	13768062	TG	T	G13768063A	OFD1	NM_003611.3(OFD1):c.2767del:p.Glu923fs	coding	Pathogenic
X	13768079	TTAAAA	T	T13768085A	OFD1	NM_003611.3(OFD1):c.2784_2788TAAAA[1]:p.Ile930fs	coding	Pathogenic
X	13768136	TAAAAGAC	T	A13768140T	OFD1	NM_003611.3(OFD1):c.2844_2850del:p.Lys948fs	coding	Pathogenic
X	14843566	ATTATAAATTACTCAGTTTCTGTGCAGCAAAGTCTGATTTCAACTGAACCTCAGCTACTTTCAAAGTTATTTCTCTGTAAAGGGCACCACTCACTTTTAGGTTCGTTTGCAACATTTTCTTCTTTTCTCTCTGAAGTTCTTTTCTGTAGGGATGGATATTTTCCCTTCTGTCTGATAAAGCAGCCGCGACGACACTACTCTTTCCTTTGCTCACTTCACACCTCTGCATAAAATTGCTTTCATGTTTAGCTATGGCAGAAGAAAGAGAACTAAGGGTGACTAGTTCCTTCTCCAAAGTAAATGCCATATTATCAATTAGGAAATTCTCACTTCCTGATTTTAGATTTTTGAGGAAACAGTTTATAGGGAGAATTCTGATGAGATTATGAAGGCACTGGAACATAACTGTTTGATTCCTAAAATAAAAAAACAAACAAAATATTACAAAAATTAGGACAGCACAAAGCAGTCATGTACAATATACTGCAGTAATCAATTAATATTCATTTATAAACACCATAATGATAAACAGAACCAATTATGTACGTGAGCATTGATAAAATTCAGACTACAGCAATCAAATATACATATTCCATATCGAATCAGTTAATATTAATCAGATTGTTTCCAATTAAAATTTTTTTTGCTGAGTAATAAGGTCAATATAATATTTTTTTAAATTTTACTGTGGAGGAGAGGTAACGGGAAATCTCAAAATAATTACTAGGCACTAAAAAAAGCCAAAAACAAATATAAAATTAAAACAGAGATCTTCAGTTTCTAAATGAAGCCGATGCGTTCATTCATGCTAGGCCATGGCTCTGTATTATTGCCATGGCAATAATACAAAACACATGCGGATCGCTGTTGAACCACACATTGATCACACTCATACACACTCACTTCTCTGGACCAATTACAATTTAATATGCATTACCTGGAATAGATTATTAAAATCCCTTCGAATGGTGTTCTCTGTTTCCAAGTGAAGAGTGTCCCATAGAAACTTCCCGGTCTTTCACAAAAGTACACTTCTGGAAATTCTTTGATTATTTCACATTTCATATGTTCTAAGAGCCACACCTTCATTGAATTCAGGGCATAGCCGGGTGATGTGATTTGAAAACAAGATTTATGGAATGCTGCAAGAAGTGCAAAAAGATCTTCCATGTGCTCTACAAAAAAAGTCACAAGCTCTATCATTAAACTCTGCCCATTATCAGATAAACAGAATTCTTAAAATTTTCTAATTCAATTAAATATATAATCTAAAAGTGCCAACAAAATTACCTATAGGTTTCTTCTTTGGAAATGTCAGTAGGTACTTCCCAGTTGAAAGATCTTCTAGACTTAAAAAAACTCTGCCACACACAACATAACGATCTTTAGGACAGTTACCACTTTCTCTCTCCATAATTTGTAGCAGTACAGTGCAACAAAATTTACTGAATGTTAAAAGTGGTGAAAGAGATGTTACAGCAGTAATTATCTGTACACACTCTTTCTTAGATGGGTGTTCACAAACAAAGCTTTCCTCTTTCTTGCTATCAGGGGTCAACGTGACCCTTTTTGCTTCCAATCCTATTTCACATGGCATCAAGTATGGTGCTGGGAAAGGATTTGTACTCAACTTAATCACCCTATTTTGACACTTTAGAAGCCGAAATCTGGAGTCATGGGCTTGATCCATTAACAATGATAAAGTCACATCATTCAGGGAC	A	T14843567C	FANCB	NM_001018113.3(FANCB):c.1497_2580del:p.Ser500fs	coding	Pathogenic
X	14843894	ACTTC	A	T14843897G	FANCB	NM_001018113.3(FANCB):c.2249_2252del:p.Gly750fs	coding	Pathogenic
X	14843971	CTGTT	C	T14843974A	FANCB	NM_001018113.3(FANCB):c.2172_2175del:p.Thr725fs	coding	Pathogenic
X	14844924	ACT	A	C14844927G	FANCB	NM_001018113.3(FANCB):c.1855_1856AG[1]:p.Arg619fs	coding	Pathogenic
X	14844926	T	TA	C14844927A	FANCB	NM_001018113.3(FANCB):c.1856_1857insT:p.Arg619fs	coding	Pathogenic
X	14844968	TTCTC	T	T14844973C	FANCB	NM_001018113.3(FANCB):c.1807_1808GA[2]:p.Arg604fs	coding	Pathogenic
X	14845084	CACAA	C	C14845090G	FANCB	NM_001018113.3(FANCB):c.1691_1694TTGT[1]:p.Cys566fs	coding	Pathogenic
X	14845114	CA	C	A14845115G	FANCB	NM_001018113.3(FANCB):c.1668del:p.Asp557fs	coding	Pathogenic
X	14850676	TA	T	A14850686G	FANCB	NM_001018113.3(FANCB):c.1327-3del	noncoding	Benign
X	14857956	TAATAAATA	T	A14857973C	FANCB	NM_001018113.3(FANCB):c.1105-26TATT[4]	noncoding	Benign/Likely_benign
X	14857956	T	TAATA	C14857981A	FANCB	NM_001018113.3(FANCB):c.1105-26TATT[7]	noncoding	Benign/Likely_benign
X	14864681	C	CA	C14864683A	FANCB	NM_001018113.3(FANCB):c.829dup:p.Cys277fs	coding	Pathogenic
X	14864743	GAGAGATATTCTTA	G	G14864745C	FANCB	NM_001018113.3(FANCB):c.755_767del:p.Leu252fs	coding	Pathogenic
X	14865315	T	TA	T14865322A	FANCB	NM_001018113.3(FANCB):c.195dup:p.Thr66fs	coding	Pathogenic
X	15321605	A	ATCAATGATAGAATCTGGAGTCATCCATCTCAATT	G15321638T	PIGA	NM_002641.3(PIGA):c.1355_1356insAATTGAGATGGATGACTCCAGATTCTATCATTGA:p.Asp452delinsGluIleGluMetAspAspSerArgPheTyrHisTer	coding	Pathogenic
X	15321636	AAG	A	G15321638A	PIGA	NM_002641.3(PIGA):c.1323_1324del:p.Leu442fs	coding	Pathogenic
X	15324662	TA	T	A15324663C	PIGA	NM_002641.3(PIGA):c.1188+2del	noncoding	Pathogenic
X	15324737	TG	T	G15324739C	PIGA	NM_002641.3(PIGA):c.1115del:p.Pro372fs	coding	Pathogenic
X	15324820	TAAG	T	A15324821G	PIGA	NM_002641.3(PIGA):c.1030_1032del:p.Leu344del	coding	Pathogenic
X	15325279	C	CAA	G15325282A	PIGA	NM_002641.3(PIGA):c.849-129_849-128dup	noncoding	Benign
X	15331471	G	GT	G15331472T	PIGA	NM_020473.3(PIGA):c.13+4029_13+4030insA	coding	Pathogenic
X	15331499	TG	T	G15331500T	PIGA	NM_020473.3(PIGA):c.13+4001del	coding	Pathogenic
X	15331681	T	TAC	G15331682A	PIGA	NM_020473.3(PIGA):c.13+3819_13+3820insGT	coding	Pathogenic
X	15331854	T	TA	G15331858A	PIGA	NM_020473.3(PIGA):c.13+3644dup	coding	Pathogenic
X	15331862	T	TC	A15331865C	PIGA	NM_020473.3(PIGA):c.13+3637dup	coding	Pathogenic
X	15845909	GA	G	A15845912T	AP1S2	NM_001272071.2(AP1S2):c.281del:p.Phe94fs	coding	Pathogenic
X	15846012	CTGTA	C	T15846013A	AP1S2	NM_001272071.2(AP1S2):c.180-5_180-2del	noncoding	Pathogenic
X	15852432	TG	T	G15852433T	AP1S2	NM_001272071.2(AP1S2):c.92del:p.Thr31fs	coding	Pathogenic
X	17375961	ACCG	A	G17375973A	NHS	NM_001291867.2(NHS):c.207_209GCC[3]:p.Pro73del	coding	Benign/Likely_benign
X	17376059	AGGCGGCGCCCGCAGCCGGCGAGGCGTCCTCGGCGGC	A	C17376067G	NHS	NM_001291867.2(NHS):c.310_345del:p.Pro104_Ala115del	coding	Benign
X	17376152	TG	T	G17376154C	NHS	NM_198270.4(NHS):c.397del:p.Ala133fs	coding	Pathogenic
X	17376154	GC	G	C17376157G	NHS	NM_001291867.2(NHS):c.400del:p.Arg134fs	coding	Pathogenic
X	17687730	C	CT	G17687733T	NHS	NM_001291867.2(NHS):c.566-10dup	noncoding	Benign/Likely_benign
X	17687893	A	AG	T17687896G	NHS	NM_198270.4(NHS):c.718+1dup	coding	Pathogenic
X	17692467	CG	C	G17692469T	NHS	NM_198270.4(NHS):c.852+1del	coding	Pathogenic
X	17721562	CG	C	G17721563A	NHS	NM_198270.4(NHS):c.975del:p.Thr326fs	coding	Pathogenic
X	17721629	T	TA	C17721631A	NHS	NM_001291867.2(NHS):c.1105dup:p.Thr369fs	coding	Pathogenic
X	17725358	TC	T	C17725359A	NHS	NM_198270.4(NHS):c.1190del:p.Ser397fs	coding	Pathogenic
X	17725565	GCAGA	G	G17725568A	NHS	NM_198270.4(NHS):c.1399_1402del:p.Asp467fs	coding	Pathogenic
X	17726431	TCA	T	A17726433T	NHS	NM_198270.4(NHS):c.2264_2265del:p.His755fs	coding	Pathogenic
X	17726555	G	GC	T17726557C	NHS	NM_001291867.2(NHS):c.2450dup:p.Ser818fs	coding	Pathogenic
X	17726737	TG	T	G17726739T	NHS	NM_001291867.2(NHS):c.2633del:p.Gly878fs	coding	Pathogenic
X	17726874	AG	A	G17726876A	NHS	NM_198270.4(NHS):c.2707del:p.Glu903fs	coding	Pathogenic
X	17727349	TC	T	C17727351A	NHS	NM_001291867.2(NHS):c.3245del:p.Pro1082fs	coding	Pathogenic
X	17727390	AT	A	T17727391A	NHS	NM_198270.4(NHS):c.3222del:p.His1074fs	coding	Pathogenic
X	17727552	CT	C	T17727553G	NHS	NM_198270.4(NHS):c.3384del:p.Glu1129fs	coding	Pathogenic
X	17727626	GC	G	C17727628T	NHS	NM_198270.4(NHS):c.3459del:p.Leu1154fs	coding	Pathogenic
X	17727763	AAACTC	A	A17727764T	NHS	NM_001291867.2(NHS):c.3658_3662del:p.Asn1220fs	coding	Pathogenic
X	18507132	AT	A	T18507135G	CDKL5	NM_001323289.2(CDKL5):c.39del:p.Phe13fs	coding	Pathogenic
X	18507161	GT	G	T18507162A	CDKL5	NM_001323289.2(CDKL5):c.64+2del	noncoding	Pathogenic
X	18510818	A	AG	A18510821G	CDKL5	NM_003159.2(CDKL5):c.65dupG	noncoding	Pathogenic
X	18564526	GAT	G	A18564549C	CDKL5	NM_001323289.2(CDKL5):c.145+5AT[11]	noncoding	Benign
X	18564526	G	GAT	C18564551A	CDKL5	NM_001323289.2(CDKL5):c.145+5AT[13]	noncoding	Benign
X	18575367	CAAAG	C	G18575371C	CDKL5	NM_001323289.2(CDKL5):c.163_166del:p.Glu55fs	coding	Pathogenic/Likely_pathogenic
X	18575389	CT	C	T18575391A	CDKL5	NM_001323289.2(CDKL5):c.183del:p.Met63fs	coding	Pathogenic
X	18575404	ACT	A	T18575408A	CDKL5	NM_001323289.2(CDKL5):c.198_199TC[1]:p.Leu67fs	coding	Pathogenic
X	18575414	AGGAAAAC	A	G18575415A	CDKL5	NM_001323289.2(CDKL5):c.207_213del:p.Glu70fs	coding	Pathogenic
X	18575416	GA	G	A18575420C	CDKL5	NM_001323289.2(CDKL5):c.212del:p.Asn71fs	coding	Pathogenic
X	18575432	TGAAG	T	G18575437C	CDKL5	NM_001323289.2(CDKL5):c.225_228GAAG[1]:p.Glu77fs	coding	Pathogenic
X	18575451	GA	G	A18575452G	CDKL5	NM_001323289.2(CDKL5):c.244del:p.Arg82fs	coding	Pathogenic
X	18575452	AG	A	G18575456A	CDKL5	NM_001323289.2(CDKL5):c.248del:p.Gly83fs	coding	Pathogenic
X	18575483	T	TAA	T18575484A	CDKL5	NM_001323289.2(CDKL5):c.275_276insAA:p.Glu93fs	coding	Pathogenic
X	18575492	TA	T	A18575494G	CDKL5	NM_001323289.2(CDKL5):c.282+4del	noncoding	Pathogenic
X	18579843	TTTAGAATATGC	T	T18579845C	CDKL5	NM_001323289.2(CDKL5):c.283-3_290del	noncoding	Pathogenic
X	18579913	C	CT	A18579915T	CDKL5	NM_001323289.2(CDKL5):c.349dup:p.Tyr117fs	coding	Pathogenic
X	18579914	TATCAGCTA	T	G18579919A	CDKL5	NM_001323289.2(CDKL5):c.354_361del:p.Leu119fs	coding	Pathogenic
X	18579918	AGCTAATCAAG	A	A18579923T	CDKL5	NM_001323289.2(CDKL5):c.358_367del:p.Ile120fs	coding	Pathogenic
X	18579946	TA	T	A18579948G	CDKL5	NM_001323289.2(CDKL5):c.383del:p.Lys128fs	coding	Pathogenic
X	18579949	GA	G	A18579951T	CDKL5	NM_001323289.2(CDKL5):c.386del:p.Asn129fs	coding	Pathogenic
X	18580504	CTGCAGTTGCAGGCATGATCAACCTTGCATAAAGGTCATAATTATACTCCCATAAACTGTTTTGTCCTTTACTGCCATGAAGTGGGTGGTTTATAGCAATGAAAGGGAAATTACTTGCTCAGCATCAACTTTGTCTCTTCTCCTGATAATCTTTCTTGCACTGGAGAGTTTTACAGTAGTGGGACACAAATTGATACAACAATGACCCTAAATATTTATTTAAAAAATTGCAGTATTTACTTTTTGTCTTTAGATTAGCAGATAAAAGAATGCTACATTTTAATTTACCTATACACAAATGCACAAGGATATCACTTTAAAAATATTCTCACTTGTGAGAATAGTTTAAAGGTCATATGAAGAATGCCATCGTCTTTTATTCCTAGAAACAGTTTATATTTCTCTTGCATTTGACTCTCATAGCAGTTACCTTATCAAGATTGTTGGTAGCATGGGTAGATCTCCACGTCAACTGGACATCCAGTGTCTAGGGTAATGATTCTAGTAACAGTCTATACTGTAGTTTGGGGATATTAATGAGGAGCCGAGTTAGGTGCATTTCCATCATGATACTGTGATTTGATTATGTGCATAGTGAATCATTGGTTGCAAATTAATGGTAGAAACCATGATTTGAAATCTACAGATTTCACTACCTCTGCCCTTTCTCCATTTGCATCTCTACCATATGATATAGATCATGGGTATTCTACTCTAAAAATACAATTGCGAGATGCCTCCCAAGGAGAGAATTCAACTGCATTTTCTGTGAATTTCTACTTAACTCCCACCACATCTTCATAACATCCATGGAAAAAATTAGAAATCTTAATTTGACTCATCCAGTATGGCTTCAGCATTAGACATTGATAATTGTGAACCATGCAGAAAAGCTAAAGAGACGTAAATATAGAAATTATGTAGAAGAATGTAACAGAAAGCATGTCTTGTATGTCTTCTCCAGTAAATATAATGCTAGCTACTTATTCTCATGTATTTTTAAAGTATCTTGTGGGTGTAAACATTTTATATTTCTATCTCCAAAAATTTGTATTACTAGTATTTTATGAAGTAATAATAGGTTTTTGAAATGTGTTGGCCTATATTTAATTATTCTTAAAATTCTTTCAGAGATCCAACTAATCCTTTTAATACTTAAAGAGGAAAAAAATATTTTTGAAGTTGTGGTCTGCATGTTTCTGAGAAAGAAATTCATTGAAACTTTTATGTACCAGCATAAAATGTGTTACTTTATTTTTGCTGCCACAGTTTTCTATTCAAATTACTCTAGATATTTCTAATTAGATGCTATTACAGTGATCTAACAGTGTCAATCAGGAGAACATAGAACATTTTTACTAATTTTTTTTTTATCTTGACACTCCAGATATAAAACCAGAAAATCTCTTAATCAGCCACAATGATGTCCTAAAACTGTGTGACTTTGGTAAGTTAAAAAGAAATTAAGTCCTGGTACTTACAGAATTAATTTATTGTAACACATAGGTAGCTTTTAAAGGAATATTAAAAGTAATTGTTATGTTTTGACTTAAATTGGTAGAGGAACATTCTTTTGAGTCACATGTTGAAAAATTGATTGCTGGAGGAGTACTGCTCTCTTCAGAGTATTGTCTATTTTTAAAATTTTATCATGGTTTTTGTTTAATCAGAACTAATTCAAAGCAAATACACCCATATGCCCAATATCTAATGACTTCACAAAAATTTTTTTTGAATGTTGATAGTTGTTCCAGGTTTAATCATGAACACTAAAATATCCCTCTGTAAATACACATAAGTATTTTGTATATGCAATTGTTATATATCTATAAAGTCAAAAGACATTTTTAGAACATTTTCATTTGTTCCCTCTAAATGTTCAATGAATGGGGTTAGTCATGTATAATATTACAGCTTTTGATTGAATGTATAGGGAAATTTTTTTAGTTGTACTCTCTCCTAGTAGAAAATTGTCTGTGTCTCCCATGTAGATAACTCTGTATTAAGCTCTATTAAACATTTAAATTAAAATAATTCAGAAAAAATTTTAGATTGTATGTTAGGGTCATGGGTCACTTTTTAAAATAATAGTTTTGCCTAACCTGTATGCTGAAAAATGAACACTTGATTTTTTAAATGTCTTTTTTCATATATTTAAATATAATCACAAATACAATGTAAACCTCCACATATAACTAAGAATCCATCTCCTTATAAGGAAAAATTAGATTAGATTAGTGCATAGGAGATGAATTACACAAGCAAGAAATAGAGGCATTGTCAAAATTTGCTTCGTAGAATGACCCATTTTGTCCAGTGTAGCAAATGGAAGCATGTGTAGCTCTTGTCACTCAGTATTTTCAAAGATTTTGAATATTATTAACCTGTTTGTCTGAGAAAAAATGTTTTACAGGACTTAATTTTCTTCATATTTTATGATAAGGAATGATATGTAAAAGAGTCTGTGTCCTAAATTTATAAAGAATGTACTTAGGAAAAAGGAAATATTGAATACTGGATCTGAAAGATTTTAATTGTGGCATTTTTAGCATTTTGTTAGCATTATGATTTTCAGGAACAACATCTGTTTCTGATTTCCTGTCCGTGATTGTGATTACTACCCAAAACAGAGACTTAAGTTACTGAAAATATAAAGCAAGTTATAAATATAAAAGAATGCCCATAGAATGGTTAGTAGTAGGAAGAGTACTCCTGGTCTGGCATTTCTCAGAGAAAAGACTGTTGTAAATGGTCAGGAAGTTCCTCCTGGCAGCACCACATGCGGTATCCTGTGTCCTGTGTATCCCTAGCAAGGACTTCCTAATTGCTTCCCCTCCCAGAGTACGCACTCCTTGGTCTGACTTGAAGAACCCCATTCAAAAATACAAATATTTCTTCAAAGCGTGTCTTATGAAGAAACATTGATTATCTGAAGTTAGGGGTTTTGTTTTACGCTGGGATTGTTTTTATTTTTTACCGTTTCATTTTAAGAAACAGTATTTTCCATGTCTCAAAACTGACGTACACCTTGATTTTTACTCTTAATTTTAATGTTCTGATTCTCTATAACTATTCACAGTGAACCTATGTTGTGTTTGGTGAGTTAGATGGGTGATTAACTTATCCTCCTGCCTTATTTTGTGGCTATGCAGTAGCCCTAAAACCTTTTCAAAGGGTGGGGGTAAAAGTAGTGGTAGAGTCTGTAATTGGTAACTAAGATACCCCTAATATTCTCAGTCATTAGGAGATGATAGTAATTTTGGCCTGCTTTGTTTCCATCACTGTTTATGTAAAGGCTAGAATTGCTCAGCAACAGTACATATGCAAATACTGTGTAAGTGCCACATAGCAAAATTAATGACCGTCTACAATATGCTAGTTTGACTTTGATTTTGATTTCTAGCTTTTGTGGGGACTTTATTTCATTTTTTTCCTAAGGTTTGCATTTATTGGGAGAGCTGATTTAAAAGTATGCTCTGAATAATTATAAAAGCATGGGATGACTTCGAAAACCCGGTTTTCTTTAGCATAGTGAAGAGACTGGTTTTGTAGTGAATACATTGTATGTCTTTCAATTGACATGGAACACTCTACTAACTTTTTAAGATAACAAGGATATTATTAATAAATAGCCCATGCGAGAACAGTCATTACATTCTTTTGATGTTGTTTAAAGTATTACTAGCGCTGAAATATTTTGCCCACATGAATTATTATTTCTTTTTCAAAGTTACAACTTTGGACTTTGCTATCTTTCAGGTTTTGCTCGTAATCTGTCAGAAGGCAATAATGCTAATTACACAGAGTACGTTGCCACCAGATGGTATCGGTCCCCAGAACTCTTACTTGGGTGAGTTACCGTCCCAAAATAGAATGACATTTCCACATCTGCTGATTCTATTGTCATT	C	A18580508T	CDKL5	NM_001323289.2(CDKL5):c.403+540_554+61del	noncoding	Pathogenic
X	18581912	T	TA	T18581915A	CDKL5	NM_001323289.2(CDKL5):c.427dup:p.Ile143fs	coding	Pathogenic
X	18581939	TG	T	G18581940T	CDKL5	NM_001323289.2(CDKL5):c.453del:p.Cys152fs	coding	Pathogenic
X	18584293	A	AT	G18584295T	CDKL5	NM_001323289.2(CDKL5):c.495dup:p.Ala166fs	coding	Pathogenic
X	18584301	TAC	T	C18584305G	CDKL5	NM_001323289.2(CDKL5):c.504_505CA[1]:p.Thr169fs	coding	Pathogenic
X	18584308	A	AGT	A18584311G	CDKL5	NM_001323289.2(CDKL5):c.510_511dup:p.Tyr171fs	coding	Pathogenic
X	18584344	TCTTA	T	A18584348G	CDKL5	NM_001323289.2(CDKL5):c.549_552del:p.Leu184fs	coding	Pathogenic
X	18584347	T	TA	C18584349A	CDKL5	NM_001323289.2(CDKL5):c.549dup:p.Leu184fs	coding	Pathogenic
X	18588011	T	TAGCG	T18588017G	CDKL5	NM_001323289.2(CDKL5):c.614_617dup:p.Asp206fs	coding	Pathogenic
X	18588025	CT	C	T18588028A	CDKL5	NM_001323289.2(CDKL5):c.629del:p.Leu210fs	coding	Pathogenic
X	18588057	C	CT	A18588063T	CDKL5	NM_001323289.2(CDKL5):c.663dup:p.Thr222fs	coding	Pathogenic
X	18588058	T	TTTTTA	C18588064T	CDKL5	NM_001323289.2(CDKL5):c.660_664dup:p.Thr222fs	coding	Pathogenic
X	18588064	CT	C	T18588065A	CDKL5	NM_001323289.2(CDKL5):c.666del:p.Ile223fs	coding	Pathogenic
X	18588091	CA	C	A18588092T	CDKL5	NM_001323289.2(CDKL5):c.693del:p.Ser232fs	coding	Pathogenic
X	18588108	CT	C	T18588112C	CDKL5	NM_001323289.2(CDKL5):c.713del:p.Phe238fs	coding	Pathogenic
X	18588122	TC	T	C18588124T	CDKL5	NM_001323289.2(CDKL5):c.725del:p.Pro242fs	coding	Pathogenic
X	18595347	G	GT	C18595351T	CDKL5	NM_001323289.2(CDKL5):c.747dup:p.Pro250fs	coding	Pathogenic
X	18595354	G	TC	G18595354T	CDKL5	NM_001323289.2(CDKL5):c.751delinsTC:p.Ala251fs	coding	Pathogenic
X	18595370	A	AG	T18595372G	CDKL5	NM_001323289.2(CDKL5):c.768dup:p.Ser257fs	coding	Pathogenic
X	18595402	AAT	A	T18595404G	CDKL5	NM_001323289.2(CDKL5):c.801_802del:p.Asn267fs	coding	Pathogenic
X	18595410	T	TC	T18595412C	CDKL5	NM_001323289.2(CDKL5):c.808dup:p.Leu270fs	coding	Pathogenic
X	18598471	AAGTTGGACCC	A	T18598474C	CDKL5	NM_001323289.2(CDKL5):c.838_847del:p.Asp281fs	coding	Pathogenic
X	18598501	G	GA	C18598504A	CDKL5	NM_001323289.2(CDKL5):c.867dup:p.Gln290fs	coding	Pathogenic
X	18598512	G	GAATCA	C18598518A	CDKL5	NM_001323289.2(CDKL5):c.877_881dup:p.His294fs	coding	Pathogenic
X	18598512	G	GA	T18598515A	CDKL5	NM_001323289.2(CDKL5):c.878dup:p.Asn293fs	coding	Pathogenic
X	18598517	AC	A	C18598520T	CDKL5	NM_001323289.2(CDKL5):c.884del:p.Pro295fs	coding	Pathogenic
X	18598533	CCA	C	C18598534G	CDKL5	NM_001323289.2(CDKL5):c.898_899del:p.Gln300fs	coding	Pathogenic
X	18598534	C	CAG	C18598540G	CDKL5	NM_001323289.2(CDKL5):c.900_901GA[3]:p.Leu302fs	coding	Pathogenic
X	18598542	T	TCC	T18598544C	CDKL5	NM_001323289.2(CDKL5):c.907_908insCC:p.Leu303fs	coding	Pathogenic
X	18598574	GA	G	A18598578C	CDKL5	NM_001323289.2(CDKL5):c.942del:p.Lys314fs	coding	Pathogenic
X	18598599	C	CA	C18598601A	CDKL5	NM_001323289.2(CDKL5):c.964dup:p.Thr322fs	coding	Pathogenic
X	18603912	GGCAAAAGTACTGCTTTGCAGTC	G	G18603913T	CDKL5	NM_001323289.2(CDKL5):c.989_1010del:p.Gly330fs	coding	Pathogenic
X	18603929	GCAGTCTCA	G	A18603931C	CDKL5	NM_001323289.2(CDKL5):c.1007_1014del:p.Gln336fs	coding	Pathogenic
X	18603931	AGTCTCACCACAGATCTAACAGC	A	G18603932A	CDKL5	NM_001323289.2(CDKL5):c.1008_1029del:p.Ser337fs	coding	Pathogenic
X	18603994	AC	A	C18603995G	CDKL5	NM_001323289.2(CDKL5):c.1071del:p.Asp357fs	coding	Pathogenic
X	18604002	CT	C	T18604003C	CDKL5	NM_001323289.2(CDKL5):c.1079del:p.Leu360fs	coding	Pathogenic
X	18604003	T	TC	T18604007C	CDKL5	NM_001323289.2(CDKL5):c.1082dup:p.Ala362fs	coding	Pathogenic
X	18604017	A	AG	C18604019G	CDKL5	NM_001323289.2(CDKL5):c.1094dup:p.Ser365fs	coding	Pathogenic
X	18604024	T	TA	T18604028A	CDKL5	NM_001323289.2(CDKL5):c.1103dup:p.Asn368fs	coding	Pathogenic
X	18604029	GGAAACCTTGCTGGA	G	A18604031C	CDKL5	NM_001323289.2(CDKL5):c.1107_1120del:p.Gly369_Asn370insTer	coding	Pathogenic
X	18604030	G	GAA	C18604034A	CDKL5	NM_001323289.2(CDKL5):c.1108_1109dup:p.Asn370fs	coding	Pathogenic
X	18604033	AC	A	C18604035T	CDKL5	NM_001323289.2(CDKL5):c.1111del:p.Ala372fs	coding	Pathogenic
X	18604131	C	CCA	C18604137A	CDKL5	NM_001323289.2(CDKL5):c.1209_1210AC[3]:p.Leu405fs	coding	Pathogenic
X	18604168	CAG	C	A18604171T	CDKL5	NM_001323289.2(CDKL5):c.1245_1246AG[1]:p.Glu416fs	coding	Pathogenic
X	18604234	A	AC	A18604236C	CDKL5	NM_001323289.2(CDKL5):c.1311dup:p.Ser438fs	coding	Pathogenic
X	18604264	TC	T	C18604265A	CDKL5	NM_001323289.2(CDKL5):c.1341del:p.Phe447fs	coding	Pathogenic
X	18604267	TGGAAAGCTCTCAAAGCAAA	T	G18604269C	CDKL5	NM_001323289.2(CDKL5):c.1345_1363del:p.Glu449fs	coding	Pathogenic
X	18604268	GGA	G	G18604269A	CDKL5	NM_001323289.2(CDKL5):c.1345_1346del:p.Glu449fs	coding	Pathogenic
X	18604289	T	TA	G18604290A	CDKL5	NM_001323289.2(CDKL5):c.1365_1366insA:p.Gly456fs	coding	Pathogenic
X	18604339	C	CA	T18604342A	CDKL5	NM_001323289.2(CDKL5):c.1417dup:p.Ile473fs	coding	Pathogenic
X	18604354	C	CTAGGA	G18604360T	CDKL5	NM_001323289.2(CDKL5):c.1431_1435dup:p.Ser479fs	coding	Pathogenic
X	18604356	A	AT	G18604357T	CDKL5	NM_001323289.2(CDKL5):c.1432_1433insT:p.Arg478fs	coding	Pathogenic
X	18604372	G	GGACC	A18604377G	CDKL5	NM_001323289.2(CDKL5):c.1449_1452dup:p.Lys485fs	coding	Pathogenic
X	18604391	T	TG	C18604396G	CDKL5	NM_001323289.2(CDKL5):c.1471dup:p.Ala491fs	coding	Pathogenic
X	18604407	T	TC	A18604410C	CDKL5	NM_001323289.2(CDKL5):c.1485dup:p.Lys496fs	coding	Pathogenic
X	18604469	GT	G	T18604470A	CDKL5	NM_001323289.2(CDKL5):c.1546del:p.Tyr516fs	coding	Pathogenic
X	18604472	CT	C	T18604474C	CDKL5	NM_001323289.2(CDKL5):c.1550del:p.Phe517fs	coding	Pathogenic
X	18604474	TC	T	C18604477A	CDKL5	NM_001323289.2(CDKL5):c.1553del:p.Pro518fs	coding	Pathogenic
X	18604594	C	CA	C18604596A	CDKL5	NM_001323289.2(CDKL5):c.1671dup:p.Arg558fs	coding	Pathogenic
X	18604605	ACAAC	A	A18604608G	CDKL5	NM_001323289.2(CDKL5):c.1684_1687del:p.Thr562fs	coding	Pathogenic
X	18604665	C	CA	T18604667A	CDKL5	NM_001323289.2(CDKL5):c.1742dup:p.His581fs	coding	Pathogenic
X	18604676	ACTGT	A	T18604680C	CDKL5	NM_001323289.2(CDKL5):c.1756_1759del:p.Ser586fs	coding	Pathogenic
X	18604677	CTG	C	G18604679C	CDKL5	NM_001323289.2(CDKL5):c.1755_1756del:p.Ser586fs	coding	Pathogenic
X	18604696	CT	C	T18604701C	CDKL5	NM_001323289.2(CDKL5):c.1777del:p.Ser593fs	coding	Pathogenic
X	18604696	CTT	C	T18604700C	CDKL5	NM_001323289.2(CDKL5):c.1776_1777del:p.Ser593fs	coding	Pathogenic
X	18604706	T	TG	A18604709G	CDKL5	NM_001323289.2(CDKL5):c.1784dup:p.Leu596fs	coding	Pathogenic
X	18604718	C	CA	C18604720A	CDKL5	NM_001323289.2(CDKL5):c.1795dup:p.Thr599fs	coding	Pathogenic
X	18604719	A	AC	A18604722C	CDKL5	NM_001323289.2(CDKL5):c.1797dup:p.Ser600fs	coding	Pathogenic
X	18604776	G	GT	A18604777T	CDKL5	NM_001323289.2(CDKL5):c.1852_1853insT:p.Asp618fs	coding	Pathogenic
X	18604777	AC	A	C18604778A	CDKL5	NM_001323289.2(CDKL5):c.1854del:p.Asp618fs	coding	Pathogenic
X	18604806	AG	A	G18604807C	CDKL5	NM_001323289.2(CDKL5):c.1883del:p.Ser628fs	coding	Pathogenic
X	18604808	C	CTT	G18604811T	CDKL5	NM_001323289.2(CDKL5):c.1885_1886dup:p.Leu629fs	coding	Pathogenic
X	18604810	TGAGCATAGGGCAAGGGATGGCAGCTA	T	A18604815C	CDKL5	NM_001323289.2(CDKL5):c.1891_1916del:p.Ile631fs	coding	Pathogenic
X	18604814	C	CAT	G18604818T	CDKL5	NM_001323289.2(CDKL5):c.1892_1893dup:p.Gly632Ter	coding	Pathogenic
X	18604832	AG	A	G18604833C	CDKL5	NM_001323289.2(CDKL5):c.1909del:p.Ala637fs	coding	Pathogenic
X	18604844	CAG	C	A18604845C	CDKL5	NM_001323289.2(CDKL5):c.1921_1922del:p.Ser641fs	coding	Pathogenic
X	18604866	CAGGT	A	C18604866A	CDKL5	NM_001323289.2(CDKL5):c.1942_1944+2delinsA	coding	Pathogenic
X	18608880	A	AC	T18608883C	CDKL5	NM_001323289.2(CDKL5):c.2016dup:p.Ser673fs	coding	Pathogenic
X	18608880	AC	A	C18608882T	CDKL5	NM_001323289.2(CDKL5):c.2016del:p.Ser673fs	coding	Pathogenic
X	18608886	TC	T	C18608888T	CDKL5	NM_001323289.2(CDKL5):c.2022del:p.Phe675fs	coding	Pathogenic
X	18608890	TC	T	C18608892A	CDKL5	NM_001323289.2(CDKL5):c.2026del:p.His676fs	coding	Pathogenic
X	18609481	AC	A	C18609484A	CDKL5	NM_001323289.2(CDKL5):c.2066del:p.Pro689fs	coding	Pathogenic
X	18609520	GAC	G	A18609523C	CDKL5	NM_001323289.2(CDKL5):c.2103_2104AC[1]:p.His702fs	coding	Pathogenic
X	18609559	GC	G	C18609560T	CDKL5	NM_001323289.2(CDKL5):c.2142del:p.Tyr716fs	coding	Pathogenic
X	18609564	TAC	T	C18609566G	CDKL5	NM_001323289.2(CDKL5):c.2148_2149del:p.Tyr716_Arg717delinsTer	coding	Pathogenic
X	18613179	TC	T	C18613181A	CDKL5	NM_001323289.2(CDKL5):c.2182del:p.His728fs	coding	Pathogenic
X	18613194	T	TGTCAACTA	A18613204T	CDKL5	NM_001323289.2(CDKL5):c.2197_2204dup:p.Arg735fs	coding	Pathogenic
X	18613201	TAG	T	A18613204T	CDKL5	NM_001323289.2(CDKL5):c.2203_2204AG[1]:p.Arg735fs	coding	Pathogenic
X	18613225	GAGCAGTTCTGGAACCAACCACTCAAAAAGACAACC	G	G18613230T	CDKL5	NM_001323289.2(CDKL5):c.2231_2265del:p.Ser744fs	coding	Pathogenic
X	18613248	C	CA	G18613254A	CDKL5	NM_001323289.2(CDKL5):c.2254dup:p.Arg752fs	coding	Pathogenic
X	18613252	AAGACAACC	A	A18613255C	CDKL5	NM_001323289.2(CDKL5):c.2256_2263del:p.Arg752fs	coding	Pathogenic
X	18619911	AAG	A	G18619915A	CDKL5	NM_001323289.2(CDKL5):c.2323_2324GA[1]:p.Lys776fs	coding	Pathogenic
X	18619911	AAGAG	A	G18619913A	CDKL5	NM_001323289.2(CDKL5):c.2323_2326del:p.Glu775fs	coding	Pathogenic
X	18619915	GAA	G	A18619916G	CDKL5	NM_001323289.2(CDKL5):c.2326_2327del:p.Lys776fs	coding	Pathogenic
X	18619931	AG	A	G18619933T	CDKL5	NM_001323289.2(CDKL5):c.2343del:p.Arg781fs	coding	Pathogenic
X	18619941	AAAAG	A	G18619945A	CDKL5	NM_001323289.2(CDKL5):c.2355_2358del:p.Lys786fs	coding	Pathogenic
X	18619946	AAAAAG	A	A18619949G	CDKL5	NM_001323289.2(CDKL5):c.2359_2363del:p.Lys787fs	coding	Pathogenic
X	18619947	AAAAG	A	A18619950G	CDKL5	NM_001323289.2(CDKL5):c.2360_2363del:p.Lys787fs	coding	Pathogenic
X	18619951	GAAGAA	G	A18619953T	CDKL5	NM_001323289.2(CDKL5):c.2363_2367del:p.Lys788fs	coding	Pathogenic
X	18625182	GC	G	C18625183T	CDKL5	NM_001323289.2(CDKL5):c.2432del:p.Ala811fs	coding	Pathogenic
X	18625200	AGACCAAAG	A	C18625203G	CDKL5	NM_001323289.2(CDKL5):c.2452_2459del:p.Pro818fs	coding	Pathogenic
X	18625216	GC	G	C18625220G	CDKL5	NM_001323289.2(CDKL5):c.2469del:p.Glu824fs	coding	Pathogenic
X	18628376	GC	G	C18628378A	CDKL5	NM_001323289.2(CDKL5):c.2504del:p.Pro835fs	coding	Pathogenic
X	18628394	C	CA	G18628397A	CDKL5	NM_001323289.2(CDKL5):c.2522dup:p.Leu842fs	coding	Pathogenic
X	18628402	TA	T	A18628403C	CDKL5	NM_001323289.2(CDKL5):c.2529del:p.Leu843fs	coding	Pathogenic
X	18628404	C	CA	T18628406A	CDKL5	NM_001323289.2(CDKL5):c.2531dup:p.His844fs	coding	Pathogenic
X	18628420	CA	C	A18628423T	CDKL5	NM_001323289.2(CDKL5):c.2549del:p.Asn850fs	coding	Pathogenic
X	18628442	TC	T	C18628446G	CDKL5	NM_001323289.2(CDKL5):c.2572del:p.Arg858fs	coding	Pathogenic
X	18628467	CAACAAACCAAAAATTCCTTCTCA	G	C18628467G	CDKL5	NM_001323289.2(CDKL5):c.2593_2616delinsG:p.Gln865fs	coding	Pathogenic
X	18628480	A	AT	C18628483T	CDKL5	NM_001323289.2(CDKL5):c.2608dup:p.Ser870fs	coding	Pathogenic
X	18628508	CCT	C	C18628509G	CDKL5	NM_001323289.2(CDKL5):c.2635_2636del:p.Leu879fs	coding	Pathogenic/Likely_pathogenic
X	18628543	GGCAGGAACCC	G	G18628547C	CDKL5	NM_001323289.2(CDKL5):c.2673_2682del:p.Gln891fs	coding	Pathogenic
X	18628555	C	CAGGA	C18628557G	CDKL5	NM_001323289.2(CDKL5):c.2682_2683insGGAA:p.Pro895fs	coding	Pathogenic
X	18628700	CAG	C	G18628702A	CDKL5	NM_001323289.2(CDKL5):c.2828_2829del:p.Arg943fs	noncoding	Pathogenic
X	18642039	TC	T	C18642041G	RS1	NM_000330.3(RS1):c.639del:p.Met214fs	coding	Pathogenic
X	18642099	TG	T	G18642105C	RS1	NM_000330.3(RS1):c.579del:p.Ile194fs	coding	Pathogenic
X	18642099	T	TG	C18642106G	RS1	NM_000330.3(RS1):c.579dup:p.Ile194fs	coding	Pathogenic
X	18642103	G	GA	G18642104A	RS1	NM_000330.4(RS1):c.575_576insT:p.Ile194fs	coding	Pathogenic
X	18644431	CG	C	G18644433T	RS1	NM_000330.3(RS1):c.520del:p.Arg174fs	coding	Pathogenic
X	18644573	GATCT	G	A18644578G	RS1	NM_003159.2(CDKL5):c.2714-1429_2714-1426del	coding	Pathogenic
X	18644615	G	GCC	A18644618C	RS1	NM_000330.4(RS1):c.335_336dup:p.Leu113fs	coding	Pathogenic
X	18647198	C	CT	G18647201T	RS1	NM_000330.3(RS1):c.318dup:p.Gly107fs	coding	Pathogenic
X	18647280	GTCCGGTGTGACCTCCC	ACTCTAACCCGGTCAGGGGA	G18647280A	RS1	NM_003159.2(CDKL5):c.2797+1190_2797+1206delinsACTCTAACCCGGTCAGGGGA	coding	Pathogenic
X	18647310	C	CAGAGGCTT	G18647319A	RS1	NM_000330.4(RS1):c.199_206dup:p.Gly70fs	coding	Pathogenic
X	18653674	GA	AT	G18653674A	CDKL5	NM_003159.2(CDKL5):c.*130_*131delinsAT	noncoding	Benign
X	18672032	GAAGT	G	G18672035T	RS1	NM_000330.3(RS1):c.33_36del:p.Leu11fs	coding	Pathogenic
X	18906518	AGCTCCGTGGCC	A	G18906519A	PHKA2	NM_000292.3(PHKA2):c.2772_2782del:p.Met924fs	coding	Pathogenic
X	18906518	AG	GGCTCCGTGCCAT	A18906518G	PHKA2	NM_000292.3(PHKA2):c.2782_2783delinsATGGCACGGAGCC:p.Leu928fs	coding	Pathogenic
X	18906739	CG	C	G18906740T	PHKA2	NM_000292.3(PHKA2):c.2672del:p.Thr891fs	coding	Pathogenic
X	18907951	CA	C	A18907952G	PHKA2	NM_000292.3(PHKA2):c.2465del:p.Leu822fs	coding	Pathogenic
X	18908892	C	CA	C18908894A	PHKA2	NM_000292.3(PHKA2):c.2268dup:p.Asp757Ter	coding	Pathogenic
X	18920182	AAAGGTTCCCTAATTTTACTCTGCCAAG	A	G18920186A	PHKA2	NM_000292.3(PHKA2):c.1794-8_1812del	coding	Pathogenic
X	18941640	TGTC	T	T18941642A	PHKA2	NM_000292.3(PHKA2):c.750_752del:p.Thr251del	coding	Pathogenic
X	18951134	GGAA	G	A18951137G	PHKA2	NM_000292.3(PHKA2):c.421_423del:p.Phe141del	coding	Pathogenic
X	18951240	CTGAG	C	A18951243T	PHKA2	NM_000292.3(PHKA2):c.314_317del:p.Thr105fs	coding	Pathogenic
X	18954397	GC	G	C18954401G	PHKA2	NM_000292.3(PHKA2):c.93del:p.Leu32fs	coding	Pathogenic
X	18994919	CA	C	A18994921T	ADGRG2	NM_001079858.3(ADGRG2):c.2845del:p.Cys949fs	coding	Pathogenic
X	19002979	T	TA	C19002981A	ADGRG2	NM_001079858.3(ADGRG2):c.2096dup:p.Phe700fs	coding	Pathogenic
X	19003070	CACAG	TCT	C19003070T	ADGRG2	NM_001079858.3(ADGRG2):c.2002_2006delinsAGA:p.Leu668fs	coding	Pathogenic
X	19008000	C	CA	T19008008A	ADGRG2	NM_001079858.3(ADGRG2):c.1545dup:p.Glu516Ter	coding	Pathogenic
X	19008085	GC	G	C19008087A	ADGRG2	NM_001079858.3(ADGRG2):c.1460del:p.Gly487fs	coding	Pathogenic
X	19013771	TG	T	G19013775T	ADGRG2	NM_001079858.3(ADGRG2):c.1013del:p.Pro338fs	coding	Pathogenic
X	19355452	C	CGGCAGCCAGCACTGATTACTACAAGAGA	G19355484A	PDHA1	NM_000284.4(PDHA1):c.711_738dup:p.Asp247delinsSerGlnHisTer	coding	Pathogenic
X	19355464	C	CTGAT	A19355470G	PDHA1	NM_000284.4(PDHA1):c.721_724dup:p.Tyr242Ter	coding	Pathogenic
X	19355467	A	ATTAC	A19355473T	PDHA1	NM_000284.4(PDHA1):c.724_727dup:p.Tyr243fs	coding	Pathogenic
X	19355746	A	AGATCT	G19355753A	PDHA1	NM_000284.4(PDHA1):c.822_826dup:p.Gly276fs	coding	Pathogenic
X	19357675	G	GACTT	C19357682T	PDHA1	NM_000284.4(PDHA1):c.858_861dup:p.Arg288fs	coding	Pathogenic
X	19357681	C	CT	C19357682T	PDHA1	NM_000284.4(PDHA1):c.861_862insT:p.Arg288fs	coding	Pathogenic
X	19357693	A	ACACAGTAT	G19357702C	PDHA1	NM_000284.4(PDHA1):c.874_881dup:p.Met294fs	coding	Pathogenic
X	19358911	C	CATAGTTACCGTACACGAGAAG	A19358934T	PDHA1	NM_000284.4(PDHA1):c.900-3_917dup	noncoding	Pathogenic
X	19358932	G	GAAATTCAGGA	G19358944A	PDHA1	NM_000284.4(PDHA1):c.918_927dup:p.Val310fs	coding	Pathogenic
X	19358936	T	TTCAGGAAGTAAG	A19358949T	PDHA1	NM_000284.4(PDHA1):c.921_932dup:p.Arg311_Ser312insSerGlnGluVal	coding	Pathogenic
X	19358940	GGAAGTAA	G	A19358950G	PDHA1	NM_000284.4(PDHA1):c.927_933AGTAAGA[1]:p.Ser312fs	coding	Pathogenic
X	19358941	GAAGT	G	T19358945A	PDHA1	NM_000284.4(PDHA1):c.929_932del:p.Val310fs	coding	Pathogenic
X	19358945	TAAG	T	A19358949T	PDHA1	NM_000284.4(PDHA1):c.930_932AAG[1]:p.Arg311del	coding	Pathogenic
X	19358948	GAAGT	G	T19358952A	PDHA1	NM_000284.4(PDHA1):c.936_939del:p.Ser312fs	coding	Pathogenic
X	19358949	A	AAGTAAGAGTGACCCTATTATGCTTCTCAAGGACAGGATGGTGAACAGCAATCTTGCCAG	T19359009A	PDHA1	NM_000284.4(PDHA1):c.934_992dup:p.Ser331delinsArgValArgValThrLeuLeuCysPheSerArgThrGlyTrpTer	coding	Pathogenic
X	19358952	TAAG	T	A19358954G	PDHA1	NM_000284.4(PDHA1):c.938_940del:p.Lys313del	coding	Pathogenic
X	19358952	T	TAAGA	G19358957A	PDHA1	NM_000284.4(PDHA1):c.937_940dup:p.Ser314fs	coding	Pathogenic
X	19358963	C	CTATTATGCTTCTCAAGG	A19358981T	PDHA1	NM_000284.4(PDHA1):c.948_964dup:p.Asp322fs	coding	Pathogenic
X	19358964	T	TATTA	T19358969A	PDHA1	NM_000284.4(PDHA1):c.949_952dup:p.Met318fs	coding	Pathogenic
X	19358969	T	TG	C19358971G	PDHA1	NM_000284.4(PDHA1):c.954dup:p.Leu319fs	coding	Pathogenic
X	19359000	T	TCTTGCCAGTGTGGA	A19359015C	PDHA1	NM_000284.4(PDHA1):c.985_998dup:p.Glu333fs	coding	Pathogenic
X	19359023	AGGTACAGTCACTTGTTCATGGTGGTTT	A	G19359025A	PDHA1	NM_000284.4(PDHA1):c.1008+1_1008+27del	coding	Pathogenic
X	19359499	TGGAAGTGA	T	T19359505G	PDHA1	NM_000284.4(PDHA1):c.1025_1032del:p.Val342fs	coding	Pathogenic
X	19359505	TGAGGAAGGAGATTG	T	G19359506A	PDHA1	NM_000284.4(PDHA1):c.1026_1039del:p.Arg343fs	coding	Pathogenic
X	19359513	G	GAGAT	T19359518A	PDHA1	NM_000284.4(PDHA1):c.1034_1037dup:p.Glu347fs	coding	Pathogenic
X	19359549	CCTGAGCCACCTTTGGAAGAG	C	A19359553G	PDHA1	NM_000284.4(PDHA1):c.1073_1092del:p.Glu358fs	coding	Pathogenic
X	19359553	A	AGCCACCTTTGGAAGAGCTGGGCTACCACATCTACTC	C19359590G	PDHA1	NM_000284.4(PDHA1):c.1074_1109dup:p.Pro359_Ser370dup	coding	Pathogenic
X	19359556	CACCTTTGGAAGAGCTGGGCT	C	T19359560A	PDHA1	NM_000284.4(PDHA1):c.1080_1099del:p.Leu361fs	coding	Pathogenic
X	19359619	C	CCAAT	G19359626A	PDHA1	NM_000284.4(PDHA1):c.1142_1145dup:p.Trp383fs	coding	Pathogenic
X	19359637	T	TTAAG	C19359643A	PDHA1	NM_000284.4(PDHA1):c.1159_1162dup:p.Ser388Ter	coding	Pathogenic
X	19359638	TAA	T	A19359639G	PDHA1	NM_000284.4(PDHA1):c.1159_1160del:p.Lys387fs	coding	Pathogenic
X	19359639	AAGTC	A	C19359647T	PDHA1	NM_000284.4(PDHA1):c.1163_1166CAGT[1]:p.Ser390fs	coding	Pathogenic
X	19359731	C	CAGTCAATGAAAT	T19359744A	PDHA1	NM_000284.4(PDHA1):c.*79_*90dup	noncoding	Pathogenic
X	20155424	TA	T	A20155426T	RPS6KA3	NM_004586.3(RPS6KA3):c.2196del:p.Ile735fs	coding	Pathogenic
X	20155476	TG	T	G20155477A	RPS6KA3	NM_004586.3(RPS6KA3):c.2144del:p.Ser715fs	coding	Pathogenic
X	20161641	TA	T	A20161642C	RPS6KA3	NM_004586.3(RPS6KA3):c.1959+2del	noncoding	Pathogenic
X	20161757	TG	T	G20161758T	RPS6KA3	NM_004586.3(RPS6KA3):c.1845del:p.Gly614_Tyr615insTer	coding	Pathogenic
X	20165050	CT	C	T20165051A	RPS6KA3	NM_004586.3(RPS6KA3):c.1612del:p.Arg538fs	coding	Pathogenic
X	20167648	CTCGT	C	G20167651A	RPS6KA3	NM_004586.3(RPS6KA3):c.1539_1542del:p.Glu515fs	coding	Pathogenic
X	20167726	CAT	C	T20167728C	RPS6KA3	NM_004586.3(RPS6KA3):c.1463_1464del:p.Tyr488fs	coding	Pathogenic
X	20169414	GATA	G	A20169417G	RPS6KA3	NM_004586.3(RPS6KA3):c.1428_1430del:p.Ile477del	coding	Pathogenic
X	20172791	GCAAA	G	A20172794G	RPS6KA3	NM_004586.3(RPS6KA3):c.1304_1307del:p.Val435fs	coding	Pathogenic
X	20186326	TC	T	C20186327T	RPS6KA3	NM_004586.3(RPS6KA3):c.814del:p.Asp272fs	coding	Pathogenic
X	20187880	TTAAC	T	A20187883C	RPS6KA3	NM_004586.3(RPS6KA3):c.718_721del:p.Val240fs	coding	Pathogenic
X	20187952	TCTTTA	T	T20187956A	RPS6KA3	NM_004586.3(RPS6KA3):c.645_649del:p.Ser215fs	coding	Pathogenic
X	20188519	TTCA	T	T20188523A	RPS6KA3	NM_004586.3(RPS6KA3):c.603_605TGA[1]:p.Asp202del	coding	Pathogenic
X	20193481	CCTTA	C	A20193485T	RPS6KA3	NM_004586.3(RPS6KA3):c.593+2_593+5del	noncoding	Pathogenic
X	20194214	TCTC	T	T20194219C	RPS6KA3	NM_004586.3(RPS6KA3):c.455_457GAG[1]:p.Gly153del	coding	Pathogenic
X	20194222	CCT	C	C20194223G	RPS6KA3	NM_004586.3(RPS6KA3):c.451_452del:p.Arg151fs	coding	Pathogenic
X	20194232	TC	T	C20194234A	RPS6KA3	NM_004586.3(RPS6KA3):c.442del:p.Asp148fs	coding	Pathogenic
X	20195143	GA	G	A20195145C	RPS6KA3	NM_004586.3(RPS6KA3):c.327del:p.Arg110fs	coding	Pathogenic
X	20209345	CT	C	T20209349C	RPS6KA3	NM_004586.3(RPS6KA3):c.185del:p.Lys62fs	coding	Pathogenic
X	21426545	AG	A	G21426546A	CNKSR2	NM_014927.5(CNKSR2):c.114del:p.Ile39fs	coding	Pathogenic
X	21440714	C	CA	G21440716A	CNKSR2	NM_014927.5(CNKSR2):c.453dup:p.Asp152fs	coding	Pathogenic
X	21601324	AAG	A	A21601331G	CNKSR2	NM_014927.5(CNKSR2):c.2020_2021AG[3]:p.Arg676fs	coding	Pathogenic/Likely_pathogenic
X	21609264	GCTTAC	G	C21609265A	CNKSR2	NM_014927.5(CNKSR2):c.2340_2344del:p.His782fs	coding	Pathogenic
X	21609559	A	AGAG	A21609583G	CNKSR2	NM_014927.5(CNKSR2):c.2637_2639GGA[8]:p.Glu886dup	coding	Benign
X	21743751	TC	T	C21743753T	SMPX	NM_014332.3(SMPX):c.130del:p.Glu44fs	coding	Pathogenic
X	21743782	TG	T	G21743788T	SMPX	NM_014332.3(SMPX):c.99del:p.Arg34fs	coding	Pathogenic
X	21743794	C	CT	G21743796T	SMPX	NM_014332.3(SMPX):c.87dup:p.Gly30fs	coding	Pathogenic
X	21985183	CAATG	C	T21985186A	SMS	NM_004595.5(SMS):c.908_911del:p.Met303fs	coding	Pathogenic
X	22033011	A	AGC	A22033014G	PHEX	NM_000444.6(PHEX):c.7_8dup:p.Glu4fs	coding	Pathogenic
X	22033019	CAG	C	A22033020G	PHEX	NM_000444.6(PHEX):c.15_16del:p.Gly6fs	coding	Pathogenic
X	22033024	AGC	A	G22033025A	PHEX	NM_000444.6(PHEX):c.20_21del:p.Ser7fs	coding	Pathogenic
X	22033026	C	ACTGG	C22033026A	PHEX	NM_000444.6(PHEX):c.21delinsACTGG:p.Ser7fs	coding	Pathogenic
X	22033030	GTGGAGAC	G	G22033035A	PHEX	NM_000444.6(PHEX):c.30_36del:p.Thr11fs	coding	Pathogenic
X	22033032	G	GA	G22033033A	PHEX	NM_000444.6(PHEX):c.27_28insA:p.Glu10fs	coding	Pathogenic
X	22033069	GC	G	C22033072T	PHEX	NM_000444.6(PHEX):c.67del:p.Leu23fs	coding	Pathogenic
X	22033071	CCTGGTCGT	C	C22033072G	PHEX	NM_000444.6(PHEX):c.67_74del:p.Leu23fs	coding	Pathogenic
X	22033072	CT	C	T22033073G	PHEX	NM_000444.6(PHEX):c.68del:p.Leu23fs	coding	Pathogenic
X	22033080	G	GT	G22033084T	PHEX	NM_000444.6(PHEX):c.78dup:p.Val27fs	coding	Pathogenic
X	22033086	CG	C	G22033088T	PHEX	NM_000444.6(PHEX):c.83del:p.Gly28fs	coding	Pathogenic
X	22033103	TG	T	G22033106C	PHEX	NM_000444.6(PHEX):c.101del:p.Gly34fs	coding	Pathogenic
X	22033106	GCA	G	A22033108G	PHEX	NM_000444.6(PHEX):c.103_104del:p.Thr35fs	coding	Pathogenic
X	22038473	TC	T	C22038474A	PHEX	NM_000444.6(PHEX):c.124del:p.Gln42fs	coding	Pathogenic
X	22038484	TAA	T	A22038485G	PHEX	NM_000444.6(PHEX):c.135_136del:p.Leu47fs	coding	Pathogenic
X	22038500	ACAGGAGTACTG	A	A22038502C	PHEX	NM_000444.6(PHEX):c.152_162del:p.Gln51fs	coding	Pathogenic
X	22038534	G	GC	G22038536C	PHEX	NM_000444.6(PHEX):c.185dup:p.Ala63fs	coding	Pathogenic
X	22038535	CG	C	G22038538T	PHEX	NM_000444.6(PHEX):c.187+1del	coding	Pathogenic
X	22047062	TAAGTA	T	G22047070T	PHEX	NM_000444.6(PHEX):c.208_212del:p.Val70fs	coding	Pathogenic
X	22047062	T	TAA	G22047065A	PHEX	NM_000444.6(PHEX):c.201_202dup:p.Ser68fs	coding	Pathogenic
X	22047065	GT	G	T22047066A	PHEX	NM_000444.6(PHEX):c.204del:p.Ser68fs	coding	Pathogenic
X	22047080	CTG	C	T22047083G	PHEX	NM_000444.6(PHEX):c.219_220TG[1]:p.Val74fs	coding	Pathogenic
X	22047137	ATCCAA	T	A22047137T	PHEX	NM_000444.6(PHEX):c.275_280delinsT:p.Asn92fs	coding	Pathogenic
X	22047142	AT	A	T22047144C	PHEX	NM_000444.6(PHEX):c.282del:p.Glu96fs	coding	Pathogenic
X	22047165	TG	T	G22047169T	PHEX	NM_000444.6(PHEX):c.307del:p.Val103fs	coding	Pathogenic
X	22076461	CT	C	T22076462G	PHEX	NM_000444.6(PHEX):c.424del:p.Cys142fs	coding	Pathogenic
X	22077495	T	TG	C22077497G	PHEX	NM_000444.6(PHEX):c.457dup:p.Ala153fs	coding	Pathogenic
X	22077519	A	AC	G22077521C	PHEX	NM_000444.6(PHEX):c.481dup:p.Arg161fs	coding	Pathogenic
X	22077544	GTGCTTGAATCTAATATTGGCCC	G	C22077547A	PHEX	NM_000444.6(PHEX):c.508_529del:p.Leu170fs	coding	Pathogenic
X	22077574	GT	G	T22077577G	PHEX	NM_000444.6(PHEX):c.538del:p.Trp180fs	coding	Pathogenic
X	22077581	CAGAG	C	G22077585A	PHEX	NM_000444.6(PHEX):c.544_545GA[1]:p.Arg183fs	coding	Pathogenic
X	22077587	G	GA	G22077591A	PHEX	NM_000444.6(PHEX):c.551dup:p.Phe185fs	coding	Pathogenic
X	22077596	GC	G	C22077598T	PHEX	NM_000444.6(PHEX):c.559del:p.Leu187fs	coding	Pathogenic
X	22077618	GT	G	T22077621C	PHEX	NM_000444.6(PHEX):c.582del:p.Arg195fs	coding	Pathogenic
X	22077631	TA	T	A22077632C	PHEX	NM_000444.6(PHEX):c.593del:p.Tyr198fs	coding	Pathogenic
X	22077655	TTGTA	T	A22077659G	PHEX	NM_000444.6(PHEX):c.620_623del:p.Tyr207fs	coding	Pathogenic
X	22077700	AAGGTATAATGAGGACCCATTCATCTTCTTTGCTCAGTCCTAGATT	A	G22077703C	PHEX	NM_000444.6(PHEX):c.663+1_663+45del	coding	Pathogenic
X	22090443	ACT	A	T22090447C	PHEX	NM_000444.6(PHEX):c.680_681TC[1]:p.Ser228fs	coding	Pathogenic
X	22090446	C	CT	C22090448T	PHEX	NM_000444.6(PHEX):c.682dup:p.Ser228fs	coding	Pathogenic
X	22090468	TA	T	A22090469C	PHEX	NM_000444.6(PHEX):c.704del:p.Tyr235fs	coding	Pathogenic
X	22090488	AG	A	G22090489C	PHEX	NM_000444.6(PHEX):c.724del:p.Ala242fs	coding	Pathogenic
X	22093999	AC	A	C22094000A	PHEX	NM_000444.6(PHEX):c.750del:p.Leu249_Tyr250insTer	coding	Pathogenic
X	22094015	T	TAC	T22094018A	PHEX	NM_000444.6(PHEX):c.766_767dup:p.Ala257fs	coding	Pathogenic
X	22094025	C	CT	A22094030T	PHEX	NM_000444.6(PHEX):c.779dup:p.Leu260fs	coding	Pathogenic
X	22094025	CT	C	T22094029A	PHEX	NM_000444.6(PHEX):c.779del:p.Leu259_Leu260insTer	coding	Pathogenic
X	22094095	CTGAGG	C	G22094097A	PHEX	NM_000444.6(PHEX):c.847_849+2del	coding	Pathogenic
X	22094098	AGGT	A	G22094099A	PHEX	NM_000444.6(PHEX):c.849_849+2del	coding	Pathogenic
X	22096954	GA	G	A22096955T	PHEX	NM_000444.6(PHEX):c.850del:p.Glu283_Ile284insTer	coding	Pathogenic
X	22096986	AG	A	G22096988C	PHEX	NM_000444.6(PHEX):c.883del:p.Ala295fs	coding	Pathogenic
X	22097027	A	ATGAT	C22097033G	PHEX	NM_000444.6(PHEX):c.924_927dup:p.Pro310fs	coding	Pathogenic
X	22099003	CAG	TCA	C22099003T	PHEX	NM_000444.6(PHEX):c.934-3_934-1delinsTCA	noncoding	Pathogenic
X	22099026	CAAG	C	A22099030G	PHEX	NM_000444.6(PHEX):c.955_957AAG[1]:p.Lys320del	coding	Pathogenic
X	22099026	C	CA	G22099029A	PHEX	NM_000444.6(PHEX):c.956dup:p.Lys320fs	coding	Pathogenic
X	22099047	A	ACT	A22099052C	PHEX	NM_000444.6(PHEX):c.978_979dup:p.Tyr327fs	coding	Pathogenic
X	22099047	ACT	A	C22099050A	PHEX	NM_000444.6(PHEX):c.976_977CT[1]:p.Tyr327fs	coding	Pathogenic
X	22099052	A	AC	A22099058C	PHEX	NM_000444.6(PHEX):c.985dup:p.His329fs	coding	Pathogenic
X	22099052	AC	A	C22099057A	PHEX	NM_000444.6(PHEX):c.985del:p.His329fs	coding	Pathogenic
X	22099091	TG	T	G22099093T	PHEX	NM_000444.6(PHEX):c.1021del:p.Val341fs	coding	Pathogenic
X	22099113	TA	T	A22099116G	PHEX	NM_000444.6(PHEX):c.1044del:p.Asp349fs	coding	Pathogenic
X	22099117	G	GA	T22099119A	PHEX	NM_000444.6(PHEX):c.1046dup:p.Asp349fs	coding	Pathogenic
X	22111519	CT	C	T22111521A	PHEX	NM_000444.6(PHEX):c.1134del:p.Ser379fs	coding	Pathogenic
X	22111524	CA	AT	C22111524A	PHEX	NM_000444.6(PHEX):c.1137_1138delinsAT:p.Ser379_Arg380delinsArgTrp	coding	Pathogenic
X	22111524	C	CA	G22111526A	PHEX	NM_000444.6(PHEX):c.1138dup:p.Arg380fs	coding	Pathogenic
X	22111530	CT	C	T22111533C	PHEX	NM_000444.6(PHEX):c.1146del:p.Gln383fs	coding	Pathogenic
X	22111558	AG	A	G22111561T	PHEX	NM_000444.6(PHEX):c.1173+1del	coding	Pathogenic
X	22114465	A	AGG	A22114470G	PHEX	NM_000444.6(PHEX):c.1184_1185dup:p.Thr396fs	coding	Pathogenic
X	22114484	GC	G	C22114486T	PHEX	NM_000444.6(PHEX):c.1202del:p.Pro401fs	coding	Pathogenic
X	22114496	CA	C	A22114499T	PHEX	NM_000444.6(PHEX):c.1215del:p.Lys405fs	coding	Pathogenic
X	22114507	AC	A	C22114508T	PHEX	NM_000444.6(PHEX):c.1224del:p.Phe409fs	coding	Pathogenic
X	22114524	CT	C	T22114525C	PHEX	NM_000444.6(PHEX):c.1241del:p.Leu414fs	coding	Pathogenic
X	22114552	TA	T	A22114553G	PHEX	NM_000444.6(PHEX):c.1269del:p.Asp424fs	coding	Pathogenic
X	22133527	A	AG	A22133530G	PHEX	NM_000444.6(PHEX):c.1309dup:p.Glu437fs	coding	Pathogenic
X	22133531	AT	A	T22133533G	PHEX	NM_000444.6(PHEX):c.1313del:p.Leu438fs	coding	Pathogenic
X	22133543	CG	C	G22133544T	PHEX	NM_000444.6(PHEX):c.1324del:p.Val442fs	coding	Pathogenic
X	22133553	GC	G	C22133555T	PHEX	NM_000444.6(PHEX):c.1335del:p.Phe446fs	coding	Pathogenic
X	22133603	GA	G	A22133607G	PHEX	NM_000444.6(PHEX):c.1387del:p.Arg463fs	coding	Pathogenic
X	22133615	CAAAGA	C	A22133620G	PHEX	NM_000444.6(PHEX):c.1400_1404del:p.Glu467fs	coding	Pathogenic
X	22168328	CA	C	A22168332G	PHEX	NM_000444.6(PHEX):c.1425del:p.Val476fs	coding	Pathogenic
X	22178285	G	GATC	A22178287T	PHEX	NM_000444.6(PHEX):c.1496_1497insTCA:p.Glu499delinsAspGln	coding	Pathogenic
X	22178312	CA	C	A22178315C	PHEX	NM_000444.6(PHEX):c.1525del:p.Thr509fs	coding	Pathogenic
X	22178324	TA	T	A22178325T	PHEX	NM_000444.6(PHEX):c.1535del:p.Tyr512fs	coding	Pathogenic
X	22178348	TG	T	G22178350C	PHEX	NM_000444.6(PHEX):c.1560del:p.Trp520fs	coding	Pathogenic
X	22178358	A	AT	A22178359T	PHEX	NM_000444.6(PHEX):c.1568_1569insT:p.Lys523fs	coding	Pathogenic
X	22178360	G	GC	G22178363C	PHEX	NM_000444.6(PHEX):c.1572dup:p.Val525fs	coding	Pathogenic
X	22178373	CAG	C	A22178376T	PHEX	NM_000444.6(PHEX):c.1586_1586+1del	coding	Pathogenic
X	22190447	G	GT	A22190451T	PHEX	NM_000444.6(PHEX):c.1593dup:p.Thr532fs	coding	Pathogenic
X	22212905	ATT	A	T22212907C	PHEX	NM_000444.6(PHEX):c.1649_1650del:p.Phe550fs	coding	Pathogenic
X	22212939	T	TG	A22212944G	PHEX	NM_000444.6(PHEX):c.1685dup:p.Thr563fs	coding	Pathogenic
X	22219040	C	CT	G22219042T	PHEX	NM_000444.6(PHEX):c.1706dup:p.Ser570fs	coding	Pathogenic
X	22219053	C	CT	A22219055T	PHEX	NM_000444.6(PHEX):c.1719dup:p.Ile574fs	coding	Pathogenic
X	22219061	GTAATTGTCGGAC	G	T22219062A	PHEX	NM_000444.6(PHEX):c.1727_1738del:p.Val576_His580delinsAsp	coding	Pathogenic/Likely_pathogenic
X	22219099	TAATG	T	A22219100G	PHEX	NM_000444.6(PHEX):c.1765_1768del:p.Asn589fs	coding	Pathogenic
X	22219104	GT	G	T22219105A	PHEX	NM_000444.6(PHEX):c.1768+2del	noncoding	Pathogenic
X	22221617	A	AAAAT	T22221623A	PHEX	NM_000444.6(PHEX):c.1775_1778dup:p.Tyr593Ter	coding	Pathogenic
X	22221622	A	ATGAT	A22221627T	PHEX	NM_000444.6(PHEX):c.1779_1782dup:p.Lys595Ter	coding	Pathogenic
X	22221643	A	AT	C22221645T	PHEX	NM_000444.6(PHEX):c.1800dup:p.Pro601fs	coding	Pathogenic
X	22221648	TG	T	G22221650T	PHEX	NM_000444.6(PHEX):c.1806del:p.Trp602fs	coding	Pathogenic
X	22221648	T	TG	T22221651G	PHEX	NM_000444.6(PHEX):c.1806dup:p.Trp603fs	coding	Pathogenic
X	22221651	T	TG	T22221654G	PHEX	NM_000444.6(PHEX):c.1809dup:p.Ser604fs	coding	Pathogenic
X	22221669	G	GAA	G22221674A	PHEX	NM_000444.6(PHEX):c.1828_1829dup:p.Phe611fs	coding	Pathogenic
X	22221671	A	AAAGTT	T22221677A	PHEX	NM_000444.6(PHEX):c.1828_1832dup:p.Phe611fs	coding	Pathogenic
X	22221674	GTT	G	T22221676A	PHEX	NM_000444.6(PHEX):c.1832_1833del:p.Lys610_Phe611insTer	coding	Pathogenic
X	22221681	G	GA	C22221688A	PHEX	NM_000444.6(PHEX):c.1843dup:p.Thr615fs	coding	Pathogenic
X	22221684	A	AAAAC	A22221692C	PHEX	NM_000444.6(PHEX):c.1844_1847dup:p.Lys616fs	coding	Pathogenic
X	22221688	CA	C	A22221692T	PHEX	NM_000444.6(PHEX):c.1848del:p.Lys616fs	coding	Pathogenic
X	22221696	A	ATGAT	A22221702G	PHEX	NM_000444.6(PHEX):c.1854_1857dup:p.Asn620delinsAspTer	coding	Pathogenic
X	22221725	G	GAAGA	C22221733A	PHEX	NM_000444.6(PHEX):c.1885_1888dup:p.Ala630fs	coding	Pathogenic
X	22223855	AGCATATTAGGAAGCAAAGGCTCTGGAGACAGAAGACTGCTTGGGTTCGAATCCCAGTGACATGCGAGCAGTTTACTTCATCACTCTGTCTTAGGTTCACTAGAAGCAGAGCCCAAGAAGGGGTTCCTTAGGTCATTGACTTTTTTGAGACAGCGTCTCGCTGAGTCACCCAGGCTGGAGTGCGGTGGTGTGATCTCGGCTCACTACAACCTCTGCCTCCCTGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCCAGTAGCTGCGATTACAGGTGCCAGCCACCACGCCTGGCTGATTTTTGTATTTTTAATAGATACGGGGTTTCTTCATGTTGGCCAGTCTGGTCTCAAACCCCTGACCTCAGGCAATCTGCCCGCCCCAGCCTCCCGAAGTGCTGGGATTACAGGTGTGAGCCACCGCACCCAGCCCAGGTCAGTGATTTATTCAGAAAGTCGTTTCAGGAAAAACCTATAATGGAATGAGGGAAACCTATTGGTTTCAGGAAATGTTTAGCCTCACCCTGATTCCACAGAGGATTCTGGAGCACGAACTGCACCACAGAAATTGTTCAGCCCAGGTACTGGGTTGTTCAAACTGCACATCAGTCAATTACTGGAAGGTGGGTTATAACCTCCCAGCGGTCTCCAGATGAGGTGACTCCCATAAGCTAAGGTTGATCTGAGCTGTTAGCAGTTGTGGGAATGGGTGCACAGTTTAGGCAGAAAAGGGGATCTGGTGGGATATCGACATCTGCTACACTCTCGGAGCTTTAGATCCTCATTTGTTGAGCAAGGGTGGTGGTAATTAGCACTTACTTACCTCATACGACTGTGGATAACAAAGAATATACGTAAAGCAGGAATGGTAGCTTTTGTGTACTGAAGCTAGGAGGGTCCTGAGTGATTACAGTGAATAATATTTTCCAAAGATTTGTTTTTATTCATTGATATTGCTTGATACCTGGGTGACTGGGCTAGCTTAAAAGTAAAGTGTTGGTAAGATCCATGGCTTGAAAGTTAAAAGCAAGGTATATTAGTTTTCTGTTGCTTGCTATAACAAGTTACTATAAACTTAGTAGCTTCAAATAACATAAATTATCATACAGCGCTGTATGATTTATTATCATACAGCTCTGTATGTCAGAAGTCTGACATGGATCTCAGTGGACTAAAATCAAAGTGTCAGCAGGGCCACATTCCTTTGTAGAGGTTCTAGGGGAGTATCTGTTTCCTCGCCTTTTCTAGCTTTTAGAGGCTGCCCACATTCCTTAGCTCATGGCCCCTTCGTTTTTCAAAGCCAGCACTGGCCGGTGGAGTCTTCTCATGTTGCATCACTCTGACACTCGCTCTCCTGCCTCCCTTTTCCTCTTGTAAGAACTTTTGTAATTACACTGGGTCCACCTGGACAATCCAGGATAAAGTCTGCATCTCAGGATCCTTAATCACATCATAAAAGTCTCCTTTGCCATGCTTTATTTTTCCAGCTTCATTTTGTGGGGACCATTCCTCTGTGCCTGAATCTTTCTTTCTTCGCAGTGAATAAGGTAACATATTCACAGATTCCAGGGATCAGGACGCAGACATCTTTGGGAGGCCGTTATCCTGCGTGTTATACAAGAGTTGAATGACTTTTCTGTAAAGGGCCAGATAGTAAAGAATTGAGGCTTTGTGGGGCGTATGGTCTCTGTTACAATATTTAATTCTGCCACTGTAGCAAGAGAGCAAATACAGACTATATGCATGGGCATGGCTGTGTCCCAATAAAACTTGATTTATGAACACCAAAATTTGAATTTCATATAAGTAATTTTCATGTGCCACCACAATATTATTCTTCTTTTGATTTTTCCCCAGTTGTTGAAGTATGTAACATCCAGTCTTACCTTGAAGCCTGTACAAAAACAAGCAGCAGGTTGGATTTGGCGTGTGGGCTGTATTAGTTTAGAATATTTGTGTCCTAGCTCATTTAAAGTTTTGAGAAACAATCTTGAATATTGGGAATAATTTTTTTTACCATGCTGGCTGGTTGTCATACATATCGCAGACCTCGACCTTGTGATCTGCACTACTTCTGTTTGATTTTTCTTCCCTAGGAGAACCACTTTCCTTTTAATTTTCCATGGAAATTGCTGAAGGTAAAATGATGATAGTTGGTCTTGAAATCTTGTTCCTGTGTGGATGGTAAATTTTTGGAAACACAGGCACAATGAGAAGAATACTCAAATTATGTGAGTTAATCAGAGAAAGTAACCTGTGTATTGACATTCCTGTTTTTTCCCATTAAACCAGAGTCACTCAGAATATTGTTAACATTTTATTGGAGCTGGCTAGATTGGTTAGAATGAAGAGGTAGGTGAAAAAGAAGTGTGTAGCATAATGAAATAGAAAGTATTACATTCCAGAGCACCTTGCTGAGGATAGTTTGCCATCTTTCTTACAATATATTATGCCTACCTCTGATTTATTGAATGTGATTTTCTCTTTAAAATATGATACTTTTCTTGCTATAATATTGATGCCTCTTGCTGAATGATAGTTGACCGTGAAACACGCATTCATTTTTTTTTTTTCCTTTTTTCTTTCTGTTAGGTCAAGGGGAAGAGGACCCTGGGAGAAAATATTGCTGATAATGGAGGCCTGCGGGAAG	A	G22223856C	PHEX	NM_000444.6(PHEX):c.1899+2113_1957del	noncoding	Pathogenic
X	22226451	G	GA	G22226454A	PHEX	NM_000444.6(PHEX):c.1910dup:p.Arg638fs	coding	Pathogenic
X	22226477	C	CTGAT	A22226482T	PHEX	NM_000444.6(PHEX):c.1935_1938dup:p.Asn647Ter	coding	Pathogenic
X	22226478	T	TGATA	A22226483G	PHEX	NM_000444.6(PHEX):c.1936_1939dup:p.Asn647delinsArgTer	coding	Pathogenic
X	22226504	TTA	CT	T22226504C	PHEX	NM_000444.6(PHEX):c.1961_1963delinsCT:p.Phe654fs	coding	Pathogenic
X	22227506	G	GGCTT	A22227511G	PHEX	NM_000444.6(PHEX):c.1966_1969dup:p.Tyr657fs	coding	Pathogenic
X	22227526	A	ATGAC	A22227531T	PHEX	NM_000444.6(PHEX):c.1986_1989dup:p.Arg664Ter	coding	Pathogenic
X	22227528	GAC	G	C22227530G	PHEX	NM_000444.6(PHEX):c.1989_1990del:p.Asp663fs	coding	Pathogenic
X	22227538	AG	A	G22227541A	PHEX	NM_000444.6(PHEX):c.2000del:p.Gly667fs	coding	Pathogenic
X	22227551	GCCTCTTCTACCAGGCATCACATTCACCAACAACCA	G	C22227552G	PHEX	NM_000444.6(PHEX):c.2011_2045del:p.Pro671fs	coding	Pathogenic
X	22227560	AC	A	C22227562A	PHEX	NM_000444.6(PHEX):c.2021del:p.Pro674fs	coding	Pathogenic
X	22227565	G	GCATCA	T22227574C	PHEX	NM_000444.6(PHEX):c.2028_2032dup:p.Phe678fs	coding	Pathogenic
X	22227588	C	CTCTT	C22227593T	PHEX	NM_000444.6(PHEX):c.2048_2051dup:p.Phe685fs	coding	Pathogenic
X	22227599	G	GAGTT	T22227605G	PHEX	NM_000444.6(PHEX):c.2060_2063dup:p.Tyr688Ter	coding	Pathogenic
X	22245353	AC	A	C22245355A	PHEX	NM_000444.6(PHEX):c.2093del:p.Pro698fs	coding	Pathogenic
X	22245361	CT	C	T22245362G	PHEX	NM_000444.6(PHEX):c.2100del:p.Ala701fs	coding	Pathogenic
X	22245386	TG	T	G22245387C	PHEX	NM_000444.6(PHEX):c.2125del:p.Ala709fs	coding	Pathogenic
X	22245401	TC	T	C22245402A	PHEX	NM_000444.6(PHEX):c.2140del:p.Gln714fs	coding	Pathogenic
X	22245408	AGGTAAATG	A	T22245411C	PHEX	NM_000444.6(PHEX):c.2147+2_2147+9del	coding	Pathogenic
X	22247866	TA	T	A22247867G	PHEX	NM_000444.6(PHEX):c.2164del:p.Ser722fs	coding	Pathogenic
X	22247868	G	GTAAC	T22247874A	PHEX	NM_000444.6(PHEX):c.2167_2170dup:p.Phe724Ter	coding	Pathogenic
X	22247891	GC	G	C22247892T	PHEX	NM_000444.6(PHEX):c.2189del:p.Ala730fs	coding	Pathogenic
X	22247892	CT	C	T22247896A	PHEX	NM_000444.6(PHEX):c.2193del:p.Phe731fs	coding	Pathogenic
X	22247899	C	CTGTCCACCCAATTCCACGA	A22247921T	PHEX	NM_000444.6(PHEX):c.2199_2217dup:p.Asn740fs	coding	Pathogenic
X	22247940	GC	G	C22247942G	PHEX	NM_000444.6(PHEX):c.2239del:p.Arg747fs	coding	Pathogenic
X	22247941	CCGACTCTGGTAGCT	C	C22247942G	PHEX	NM_000444.6(PHEX):c.2239_*2del:p.Arg747fs	coding	Pathogenic
X	23379826	CTG	C	T23379829C	PTCHD1	NM_173495.3(PTCHD1):c.588_589TG[1]:p.Val197fs	coding	Pathogenic
X	23379828	GTGCACAGCAAAGAC	G	T23379829C	PTCHD1	NM_173495.3(PTCHD1):c.590_603del:p.Val197fs	coding	Pathogenic
X	23393308	AACTCAATGTATCC	A	C23393312G	PTCHD1	NM_173495.3(PTCHD1):c.1794_1806del:p.Asn599fs	coding	Pathogenic
X	23393353	TGTTG	GAA	T23393353G	PTCHD1	NM_173495.3(PTCHD1):c.1835_1839delinsGAA:p.Met612fs	coding	Pathogenic
X	23393481	GAAAC	G	A23393487G	PTCHD1	NM_173495.3(PTCHD1):c.1965_1968AACA[1]:p.Asn657fs	coding	Pathogenic
X	24076756	ACAAT	A	T24076760G	EIF2S3	NM_001415.4(EIF2S3):c.1394_1397del:p.Ile465fs	coding	Pathogenic/Likely_pathogenic
X	24498808	CT	C	T24498820C	PDK3	NM_005391.5(PDK3):c.249-9del	noncoding	Benign
X	24715138	CAGAAAGCTGTAGACTTGTCCAAGGATGGTCTGCTAGGTGACATTCTACAGGATCTTAACACTG	C	A24715141G	POLA1	NM_016937.3(POLA1):c.445_507del:p.Lys149_Glu169del	noncoding	Pathogenic
X	24732461	AT	A	T24732470A	POLA1	NM_001330360.2(POLA1):c.1771+16del	noncoding	Benign
X	25004759	C	CGGCTATG	C25004767G	ARX	NM_139058.3(ARX):c.1593_1599dup:p.Ala534fs	coding	Pathogenic
X	25004810	GGGCGCCCGATGCCA	CTGCGCC	G25004810C	ARX	NM_139058.3(ARX):c.1535_1549delinsGGCGCAG:p.Val512fs	coding	Pathogenic
X	25004814	GC	G	C25004817G	ARX	NM_139058.3(ARX):c.1544del:p.Gly515fs	coding	Pathogenic
X	25004887	A	AG	C25004894G	ARX	NM_139058.3(ARX):c.1471dup:p.Leu491fs	coding	Pathogenic
X	25004889	G	GGGGGCCATTGTGGAAAAGAGCCTGCAGGGAGAGCAAACAGCGCGGTCATGGCCTCGGGAGCTGTGCGCGGCGCCTCGGGCAGCGTCTCCCGCCGCTTGTCGCC	A25004998C	ARX	NM_139058.3(ARX):c.1449-82_1469dup	coding	Pathogenic
X	25004893	GC	G	C25004895A	ARX	NM_139058.3(ARX):c.1465del:p.Ala489fs	coding	Pathogenic
X	25007109	A	ACCTG	G25007116T	ARX	NM_139058.3(ARX):c.1446_1448+1dup	noncoding	Pathogenic
X	25007130	TGAAAGCTGGGTGTCG	T	A25007134C	ARX	NM_139058.3(ARX):c.1414_1428del:p.Arg472_Phe476del	coding	Pathogenic
X	25007167	AGTGCTCAGGCCCAGCGGCGCCCC	A	T25007169C	ARX	NM_139058.3(ARX):c.1369_1391del:p.Gly457fs	coding	Pathogenic
X	25007186	GC	G	C25007190G	ARX	NM_139058.3(ARX):c.1372del:p.Ala458fs	coding	Pathogenic
X	25007219	G	GGCGGAGGTAGGCTCGGGAAGGCGGCGGCGGCGGCGGCGGCAGCGGCAGTCCAA	T25007279G	ARX	NM_139058.3(ARX):c.1287_1339dup:p.Pro447fs	coding	Pathogenic
X	25007221	C	CG	A25007224G	ARX	NM_139058.3(ARX):c.1337dup:p.Pro447fs	coding	Pathogenic
X	25007238	A	AGGC	A25007260G	ARX	NM_139058.3(ARX):c.1300_1302GCC[8]:p.Ala440dup	coding	Benign/Likely_benign
X	25007298	GAGGGA	G	A25007303G	ARX	NM_139058.3(ARX):c.1256_1260del:p.Phe419fs	coding	Pathogenic
X	25007394	C	CCTTTG	C25007398T	ARX	NM_139058.3(ARX):c.1164_1165insCAAAG:p.Ala389fs	coding	Pathogenic
X	25007406	TGC	T	G25007409C	ARX	NM_139058.3(ARX):c.1149_1150GC[1]:p.Arg384fs	coding	Pathogenic
X	25007417	GC	G	C25007420G	ARX	NM_139058.3(ARX):c.1141del:p.Ala381fs	coding	Pathogenic
X	25007429	TG	T	G25007431A	ARX	NM_139058.3(ARX):c.1129del:p.Gln377fs	coding	Pathogenic
X	25010282	TC	T	C25010284A	ARX	NM_139058.3(ARX):c.1096del:p.Asp366fs	coding	Pathogenic
X	25012018	AGCTGGGGCCGAGGGTCCAGTCATCACACAGGCACATGTTTCCCAGAAAAACAAGTGGGAGGTGGAGCGTGACCAGGTCGAACACCCGGCTTGGACACTGATCCAAAGAGAAAATTCCCCCAACTGCTTTGTCTACTCCCTGCCAGGCTTCCAGCAATCATTGTCCACCCGGTAAACCCGTTTACATTAAACGCACGGTGGGTTTAATATGTGTGTCGGGAGAGGACAGAGAGTAGAAGGGGAGATTCTGGCTGGGGCCCCTCAGGTGTTCAGACACCAAACACTGCCCAGTTCTGACTTCCTTTGGTTATTTCAGGAGTCCTGAAACGACAGAACTCGGATCTTTTTAAAGGCCTTCTCCGCTGGCACGGGCTCCAGCTTCACTGCGAACTGCGTAACTGATACCCACCAGGCCCCTGGGGCACCAGGCGGGGGTGGCGAGCGCACAGCACAGCGACCAAAAATAGCCCCTGCTTTGCTCTGTCTGCGGACAGCGCTTCCTGAGCCTCGCCGGGGACCTAGCCGGGACCGCAGCTCCGGAGGCCTTGTGTCTGTGCCCTCTGCTGTGCGCGCGTCTCCAAGGTGGCGCTTTCGGGCGCTCTTTGGAGAGGCTGTTTCTTTTCCTCTCTCTAACTAAAACTTGTAATTTGAAAACATTAAACTGCAACGACCTTGGGAAGAAGATAAACCATTCCAGCCTAAACTTAAAGCCCGAACCGGGGTGGGGGTCGGGGGAGTGGGTAGTTTGGGTGAGCAAGGGTGGGTGTGTTGGGAGGGCGCTCTTCCACAGAGTCCAGGAGCCAAGCGTCCGCCCCGAGGCCGGGGCCCCTGCCAGCCCGCTGTCCCTCCCTGGGGCCCGCGTGCGCTCTCTGCCGCTGCGACCGCGACCACCCTACGCGCATACCTGGTGAAGACGTCCGGGTAGTGCGTCTTCTGGAAGGCCCGCTCCAGTTCCTCCAGCTGGTAGCTGGTGAACGTGGTGCGGTAGCGCCTCTGTTTGCGTTTCAGCAGCCCCTCCTCCGAGTCGCTGCCCGCAGAGAGGCACACGCTGTCCTCGCCGTCCTTGCCCTCAGCGTCTTCCGGGTGCAGCAGCAGCTCCTCCTTGGGTGACAGCTCCCCGCCCTCTGTGGCCACTGCAGCGGCAGCTGCTGCGGCCACGGCGCCAGTGGCGGCCACAGGACAGCGCCGGGGCTCCTTGAGCAGCGCGCGGGCGTCGTCCTCCAGCAGCTCCTCCTCGTCGTCCTCCAGCAGTTCCTCTTCCTCGTCCTCATCTTCTTCGTCCTCCAGCAGCTCCTCCTCGTCGTCCTCGGTGCCGGTGCCACCACCCGCAGCCGGGGCGCTGCCCGGGCCGCCGGCCACGCCGAGGCGCTCCTCCGGGTGCGTGACGCCCCCCGGGCCGCCCAGCTCGTCCAGCGCGGGCGGCGGCGGCACGAAGGGCGCCCCGTTCTCGCGGTACGACTTGCTGCGGCTGATGCTCACCTGCGGCGCCTGGCTGATCTTGAGCGTGTCCCAGGCCGCGGCGGCCGCGGCCGCGGCTGCCGCGGCGGCCCCTGCGCCGTCCGGCCGTTCCCCGGGCCGCGCGGTTGGCGGTGGCGGCGGAGGGGCCTCCCCGCGTGGACCCGCCGTGGCCGTGGCGGCCGCTGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCTGCCGCACCCTGAAGGAGGCGGCCCCCGCCCGGGCCGTACAGGCGCCGCAGCTTGGGCGGCAGGTGCAGCTCGGCCTCGAACGGGGCGCTGCTGCTCTTAGGGGAGCCTGCGGGCAAGGGAGAGCTATCAGCCAGCCGGCCGGCCGGGGAGTCCCAGCCAGGGCTGCTGCCGGGGCCCGCCCGCAGTTGCTCCCCCAGTGCCTAGGCCCAGGCGTGCGGGGACCGCGCACCACCAGACTTCGACGCCTTGGCCTCTTTCTCCACTTTTCTTGCTTTTTCTTTTTCTTTCTTTCTCTCCTTCTCCCTTTCTCTGGGTTCCTTCTTTTTTCCCCTTTCCTCTCCCTTCTTTCCGTTCCCTCTCTCACTCTCCCCCTTTTATTTCCTATCTTCCTTCCCTTATCTATTCCTCTTGCCCCTCTCTCCCTTCCTTTTCTCTCCTTACCTTTTTTCTTTTTCTTTCTCCCCCTCCCTTCTTTTCCTCACCTCTCTTTCTCCTTCTCTCCCCCTTTCTTTCTCTTTTTGCAGGCTTTCTCTCCCCTCTCTCCTTCTTTCTTCTTTATTCCTTTCTCTTTCCCCTTTCCTACTCTCTCATTTTTATTTCCCTTCCCACGTCGGGGCAGAGGAAAATCCGAAAACATTCTACAACTTTAAAAGAAAATCACCACTATCCTGAAAACTTTGCGCATGACCTCTGCCCGCTGCTCCACCATGAGGGCAAGGGTTGGCAAGAGGGGTGCAGCCCTGAAGGCGACCGCTGCGGGGCGGGGTGGGGGAAAGCGGCCCTGTGGCCCCAAGTGCAGGCCGCGCCCCAACAGCCCACAGCGGGAGAGGGTGGGGGGGCTTCTTGCACAAAAAGGCAAAGAAAAATCATCCTGGCAAAAATGTTCTGGGAAAGGTCTGGGGCAGAGAGGGAGTGGGAGTGCAGCAGGCGCAGGCCGCTCCTTCCTTTTGAGGAAGCGCCTGGCATAGGTGCCACTGCAGGCTAAAAAAAGAAAAGAAAAAAGTCAGTTTTATTTAAATGCCCCCTTCTCAACCGTCTGCTCCTGCCATCCAAATTGCGCTATGGCCGGACCGCTGGTTTTTGGATTTTAAAAGAAACCAACAGTTCTTTCCTTTCCCTGCGACACCTCTGCAGCAAGCTCGAGGCGAAACTTGAGGATAACAGGTTCGGGGTAAAAGGACATTTGTTCTGGAATTTTTAATTTCAGAAAAAAATAAAATATTTTAAACAGCTCGTCTATTTTAAAAAATAAAATAGCAGAGAAAAAATTAGCATCCAGAAGTCACACATTTCATACATTTTAAATACATTAAGGAGCATTTGGAGAATCCCAGGAAGATGTTTTCTGCAAAGCTTGGGTTTAAAAGGTCACAAGTAATCTGCAATTAAAAAAATAAAACCAAAACATTGCATATACAGAAATCTTCCAAAGAGGAAAGGCCAAGGCTCACTCAGCCTGGAGACCCCGATTCACCAGCTTTTGGGCTTCTTGTCTTCATCAAGTTGGTGCTACAAGGGTCCACCGGCCATCTACTGTTTCTGACCTGTCGCCGCTCTTCAGAGCACACCCAAGGCCACCAAAAGGGGCATTTAAACAACCTAACGATCAACACCGAAAAGCTAAAGGCTCCCTAAGCGAAAACGGGCCTTTTTCTGGAAGCAGGGAGGGAGGGAGGGAGAGACAGCCCTGGCTAGATGTTTAACGCTCTTTGAGGCAGCAG	A	T25012021C	ARX	NM_139058.3(ARX):c.196+129_1073+903del	noncoding	Pathogenic
X	25012988	GTGAAC	TGGTACA	G25012988T	ARX	NM_139058.3(ARX):c.1002_1007delinsTGTACCA:p.Phe335fs	coding	Pathogenic
X	25013011	CTGTT	C	T25013014C	ARX	NM_139058.3(ARX):c.980_983del:p.Lys327fs	coding	Pathogenic
X	25013204	CG	C	G25013208C	ARX	NM_139058.3(ARX):c.790del:p.Arg264fs	coding	Pathogenic
X	25013352	GGGCGCTGCCCGGGCCGCCGGCCACGCCGA	G	G25013359C	ARX	NM_139058.3(ARX):c.614_642del:p.Leu205fs	coding	Pathogenic
X	25013377	GC	G	C25013379G	ARX	NM_139058.3(ARX):c.617del:p.Gly206fs	coding	Pathogenic
X	25013432	GC	TA	G25013432T	ARX	NM_139058.3(ARX):c.562_563delinsTA:p.Ala188Ter	coding	Pathogenic
X	25013530	GGCCGCGGCGGCCGCGGCCGCGGCT	G	G25013543C	ARX	NM_139058.3(ARX):c.441_464del:p.Ala148_Ala155del	coding	Benign/Likely_benign
X	25013536	G	GGCGGCCGCGGCCGCGGCTGCCGCGGCGGCCCCT	C25013573G	ARX	NM_139058.3(ARX):c.426_458dup:p.Gly143_Ala153dup	coding	Pathogenic
X	25013585	T	TC	G25013590C	ARX	NM_139058.3(ARX):c.409dup:p.Glu137fs	coding	Pathogenic
X	25013626	CCCGCGTGGACCCGCCGTGGCCGTGGCGGCCGCTG	C	G25013631C	ARX	NM_139058.3(ARX):c.335_368del:p.Ala112fs	coding	Pathogenic
X	25013649	T	TGGCGGCCGCTGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGC	T25013692G	ARX	NM_139058.3(ARX):c.304_345dup:p.Ala102_Ala115dup	coding	Pathogenic
X	25013653	G	GGCCGCTGCCGCCGCCGCCGCCGCCGCCGCCGCC	A25013698C	ARX	NM_139058.3(ARX):c.309_341dup:p.Ala105_Ala115dup	coding	Pathogenic
X	25013659	TGCCGCC	T	C25013686T	ARX	NM_139058.3(ARX):c.306_308GGC[8]:p.Ala114_Ala115del	coding	Benign/Likely_benign
X	25013659	TGCC	T	C25013689T	ARX	NM_139058.3(ARX):c.306_308GGC[9]:p.Ala115del	coding	Benign/Likely_benign
X	25013659	T	TGCCGCCGCCGCCGCCGCCGCCGCC	T25013692C	ARX	NM_139058.3(ARX):c.306_308GGC[18]:p.Ala108_Ala115dup	coding	Pathogenic
X	25013659	T	TGCCGCCGCCGCCGCCGCCGCC	T25013692C	ARX	NM_139058.3(ARX):c.306_308GGC[17]:p.Ala109_Ala115dup	coding	Pathogenic
X	25013668	C	CGCCGCCGCCGCCGCCGCCGCCGCT	A25013698C	ARX	NM_139058.3(ARX):c.303_326dup:p.Ala108_Ala115dup	coding	Pathogenic
X	25015565	GC	G	C25015566G	ARX	NM_139058.3(ARX):c.172del:p.Ala58fs	coding	Pathogenic
X	25015685	C	CT	G25015690T	ARX	NM_139058.3(ARX):c.52dup:p.Ser18fs	coding	Pathogenic
X	28587759	GT	G	T28587770C	IL1RAPL1	NM_014271.4(IL1RAPL1):c.-302del	noncoding	Benign
X	29917575	GAGTTTGGGAA	G	T29917579G	IL1RAPL1	NM_014271.4(IL1RAPL1):c.894_903del:p.Trp299fs	coding	Pathogenic
X	29941781	AGAGCTCGATGGAGGTAG	A	G29941784T	IL1RAPL1	NM_014271.4(IL1RAPL1):c.1191_1201+6del	coding	Pathogenic
X	30304562	GTGTGGCCCACATGACTTTATATCTTTGTACAGAGCATTTCCAGCATCATATCATCCATGCTGACTGTGCCGATGATGGGCCTGAAGAACAGTTCAGCAATGACATTGGCATTGATGAATCTCAGCAGGAAAAGGGTACTATTAAGTTCGATGAATCTGTCATGGGGCCCTTGGTGCGTCATCCTGGTGTGTTCACTGAGTATTTGCTGAGTTCCCCACTGGAGTCCCTGAATGTACTTCACGCACTGCAGGCCCGGCACGTCTGGAGGGAGAAAAATCTCTTTGTTATAAAACAGCTCACCACAGAGTCCTTTGCTAGCTTTTTAAAAATAGCCATTTCTGTTTCATCCCAATTAAACAAGACCCAAAGCTTC	CA	G30304562C	NR0B1	NM_000475.5(NR0B1):c.1169-112_*17delinsTG	noncoding	Pathogenic
X	30304626	CTG	C	T30304629C	NR0B1	NM_000475.5(NR0B1):c.1362_1363CA[1]:p.Thr455fs	coding	Pathogenic
X	30304690	GA	G	A30304694G	NR0B1	NM_000475.5(NR0B1):c.1301del:p.Phe434fs	coding	Pathogenic
X	30304724	TG	T	G30304728C	NR0B1	NM_000475.5(NR0B1):c.1267del:p.His423fs	coding	Pathogenic
X	30304756	ACT	A	C30304757G	NR0B1	NM_000475.5(NR0B1):c.1234_1235del:p.Leu411_Ser412insTer	coding	Pathogenic
X	30304757	CTGAG	C	G30304759A	NR0B1	NM_000475.5(NR0B1):c.1231_1234del:p.Leu411fs	coding	Pathogenic
X	30307935	AAGAAATGTGTAGAGAGCCAAGTACAAACCTAAACAAACAACTCCCCTCCTCTTGGCTGAGTTTCTGATAGCAGCCCACCCAGCAGAAGTGGTTCCTGGAGCTCCCCACCCCAACTCTGCTGAGTTAGTCACGATTTCTTCACCTTTGCCCCGACACTCTCCTGATCACTGAAAACTCGTTACTGCCCGCGCCCCTAGATAGGCACTGCCCGATGCTTTTGTGAGCTGGGAAAAGCCGGCGCCTAAGGCCAGTACCCTTACCCGGGTTAAAGAGCACGGTCCCCTTGAGGTAGGCGTACTCCTTGGTACTGATGTTCAGACTCCAGCATTTGGAAAGAAAGCACTTGATGGCTTGGACCTGGGAGGCGGAGGGCACCTTCCTGGCCTCCGCCGGCGGTGCCAAATGGTGCTGCAGCGTGGGCACGGGCAGTGGCTCGTTGCCCCCGGTCTCCCGCCGCCTGGTGGTGAGGATCTTCTGCAGCATGCTGGGCTCCGAGACTTCCACAGTCTCGAACTGCAAGCGGTCCTGGGCCAGCTCAAGCATGAGCAGGGACGCCCAGCAGTTGCGCACCAGCACCAGCTGCTGGTCCAGGGGCAGCACCTGGAAGCAGGGCAAGTACTTGACGAAGCGCAGCGTCTTCAACAGGCCCGCTGAGGCTGCCTCGCAGACCACCTGTGGACTCTTGAGCGCCACCGGCCGCAGCGCACCAGAGGAGGTGTCCCACCAGGGGGCCCTCGGCCGCTCCTCCGGAGCCGCCTGCGCTTGATTTGTGCTCGTGGGCACGCAGTAGAGGGTGCTGCCCTGCTGCGGGTGGTCTTCACCGCAAAAGCAGCAGCGGTACAGAAGCGCCGTGGCCCGCCCGCCTGGTAGCGCCTCTTTACCCCCTGGCCTCTGCGCGAAGTAGGAGCGGTCCCACCACGCGCCCCCTGGCCGTGCCTCGGGCGCTGCCGGAGCCACGTGCGTTTGCTTTGAGCTAGTGAGCAAGCTGTAGAGGATGCTGCCCTGCCGCGGGTGGTCTTCACCACAAAAGCAGCAGCGGTACAGGAGTGCCACGGGCCGCCCACCCGGAAGCCCCGCTCTGCCCACCCCGGGATCAGAGCCGCACGAACAGCCCCAGCACGGACCCAGCGTCGCCTCGGGCGCCTTCGGTGCCGCGTACGTTTGCTTTGCGCTCGTCAGCATGCTGTAGAGGATGCTGCCCTGCCGTGGGTGGTCTTTACCGCAAAAGCAGCAGCGGTACAGGAGCGCCACGTTCCGCCCGCCCAGCAGCCCCTCTCTGCCCACCCCGGGCTCATCGCCGCACGAACAGCCCCAGCACTGATCCACCAGCCGCGTCTCTGGAGCCTCAGGAGCCGCGCGCGTTTGCTTCGCGCTCATAAGCATGTTGTAGAGGATGCTGCCCTGCCACTGGTGGTTCTCGCCCGCCATGGCCCGCGGCGCCCGTAGCCCAGTTCTGCCCAGTGGCTGCCTCCTGGGACCTATTTATACCTAGCGCGCACGCAGGCGCGTCGGCCGCCTCGGTCTGGGCAAGGGCGCGGAGGCGGGCGGTGTGTGCGGGGGGGCGCGGTGCTGCGCTCCGGTGTGTTCGCCCATGACCTCGGTGGTTCGAAGGGGCGGGTGCTCTTTAAAAGCTGGAAATGGAAGAACAGCAGCGTGGGAGCTCCTGGACACTTTCCTCCTTCCTCTCATTACCCCTTTCCCTGTCTCAGGAAGACCGGAGGAGAGCGAGCGCCTGGATGCTGTTGCAACTCTTTCCATTGAACCCTCGCATCTAATTTGTTCCCTTTATTGGGAGGGCAGGGGAAAAGAGGAAACATCTACTTCTATGCTCTTTGTAAACTTTCATTAAATTATCACAGTTTGTGTGACTTATATTTGTATATGGATAGGGAGGTCTCATTTTCTGAGACCTTGAAAAATACAGAACATAGACAAGCATCATATGGGAACTCGGTGGAAATGCCCAATCTCAGGCTCCAACCAGACTTTCTAACTCTGAATCTGCATTTTAACGGTGTCCCCAGGGATTCACATGCACCTAGACGTTTGAAAAGCACTGCTCTAAATATGCTATCATAAGCGCTCAGTTTAATGCCATCAGTATTTATAAGCGCCCACTATGTCCTGGATGCTGTGTTAAGAGAGCTGGGGGCAGCGAGCAGGATGTAAAAGTGCCTAAAACTTAGGAATATAATAATTACGAGGGGATAATATTGTTACAGTGAGAATTGTTTTCATTTTAGTATATATTTTTTTTTCTTTTAACTTTTAGGTTCAGGAGTACATGTGCGGGTTTGTTATATAAGTGAATTGCTTGTCGTGGGGGTTTGGTGTACAGATTATTTCATCACCCAGGTAATAGTATCCAATAGGTATTTTTTCTCATTCTCTCCCTCTTCCCACCCTCCACCTTCAAGTAGGTTCCAGTGTCTGTTGTTCCCCTCCTAGTGTCCAGGTGATCTCTTTATTTAGCTCCCACTTGCAAGTGAGAACATGTGATATTTGGTTTTCTGTTCCTGCATTACTTTGCTAAGCATGATGGCCGCCAGCTCTCATTCTTTTTCATGGCCGCAGTGAGAAATTTTGATCCTTGTAAAAGTATTCCATTGGTAAGTGTGTAATTAGTATTTCTTTTCCCACCCTTCCTAAGTGAATAATGATAAATAGAAGCATCAGGAAGCCTGGATCCATTAGTCTTCACTTGCCACACAGCTGTGAAGACATGGGGCAGGGAAGGGTGTTGGTATATACCAGCTGATACAGAATCATTTTTACTTTTTCCCTCCCTCCCATCCTCCCTCTTTCTTTTTTTGCTGTTTCTTTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTTCCTTCCTTCCTTCCTTCCTTCCTTCCTCCCTCCCTCCCTCCCTCCCTCCCTCTCTCACTCCTTCTCTCTCTCTCTTTCTTTCTCTTTTTCTTCTTCTCCAGGACCTGGAATTCTCAGCATAAGAGGAAAACCTAGGAGACCCCCATTTTGCTTGCAGCGTTAAATTTCATTCTGCCTGTGAGAGGCCCTAAATAGCACAGTGGTTAAATCCCTGGAACTAGCACTAGATTGCCTCAGTTTTAATCCTGGCCCTGCCACTTTGTAGCATCATAACCTTGGGCAATGTGTTAGTTTCTTTGTCGCTGCTTTACTTACCACAAATGTAGTGGCTTAAGTCAACACAAACAACACGAATTTTTTATGTTATAATTCTGGAAGCCAGAAGTCTGAAATCAGTTTCACTGAGCTAAAGTCAAGGTGACATTTCTTC	A	A30307936T	NR0B1	NM_000475.5(NR0B1):c.0_1168+260del	noncoding	Pathogenic
X	30308175	GCCTAAGGCCAGTACCCTTAC	G	T30308178G	NR0B1	NM_000475.5(NR0B1):c.1168+1_1168+20del	noncoding	Pathogenic
X	30308240	G	GA	T30308241A	NR0B1	NM_000475.5(NR0B1):c.1123_1124insT:p.Thr375fs	coding	Pathogenic
X	30308321	TC	T	C30308323G	NR0B1	NM_000475.5(NR0B1):c.1042del:p.Glu348fs	coding	Pathogenic
X	30308501	CGCACCA	C	A30308510T	NR0B1	NM_000475.5(NR0B1):c.851_856TGGTGC[1]:p.284_285LV[1]	coding	Pathogenic
X	30308609	TG	T	G30308610T	NR0B1	NM_000475.5(NR0B1):c.754del:p.Gln252fs	coding	Pathogenic
X	30308617	CTT	C	T30308618G	NR0B1	NM_000475.5(NR0B1):c.745_746del:p.Lys249fs	coding	Pathogenic
X	30308710	CGTGGGCACGCAGTAGA	GATG	C30308710G	NR0B1	NM_000475.5(NR0B1):c.638_654delinsCATC:p.Leu213fs	coding	Pathogenic
X	30308711	G	GT	G30308713T	NR0B1	NM_000475.5(NR0B1):c.652dup:p.Thr218fs	coding	Pathogenic
X	30308783	GC	G	C30308785G	NR0B1	NM_000475.5(NR0B1):c.580del:p.Ala194fs	coding	Pathogenic
X	30308811	CT	C	T30308814A	NR0B1	NM_000475.5(NR0B1):c.552del:p.Glu185fs	coding	Pathogenic
X	30308811	CTT	C	T30308813A	NR0B1	NM_000475.5(NR0B1):c.551_552del:p.Lys184fs	coding	Pathogenic
X	30308815	A	AC	T30308821C	NR0B1	NM_000475.5(NR0B1):c.548dup:p.Gly183_Lys184insTer	coding	Pathogenic
X	30308815	AC	A	C30308820T	NR0B1	NM_000475.5(NR0B1):c.548del:p.Gly183fs	coding	Pathogenic
X	30308818	C	CTGGG	C30308819T	NR0B1	NM_000475.5(NR0B1):c.545_546insCCCA:p.Gly183fs	coding	Pathogenic
X	30308820	CT	C	T30308821G	NR0B1	NM_000475.5(NR0B1):c.543del:p.Gly183fs	coding	Pathogenic
X	30308862	CT	C	T30308863G	NR0B1	NM_000475.5(NR0B1):c.501del:p.Gly169fs	coding	Pathogenic
X	30308897	GTTTG	CGGAGCTCA	G30308897C	NR0B1	NM_000475.5(NR0B1):c.463_467delinsTGAGCTCCG:p.Gln155_Thr156delinsTer	coding	Pathogenic
X	30308976	ACAGGAGTGCCACGGGCCGCCCACCCGGAAGCCCCGCTCTG	TTCT	A30308976T	NR0B1	NM_000475.5(NR0B1):c.348_388delinsAGAA:p.Arg117fs	coding	Pathogenic
X	30309086	GC	G	C30309088G	NR0B1	NM_000475.5(NR0B1):c.277del:p.Ala93fs	coding	Pathogenic
X	30309204	G	GC	T30309209C	NR0B1	NM_000475.5(NR0B1):c.159dup:p.Leu54fs	coding	Pathogenic
X	30309264	GC	G	C30309266G	NR0B1	NM_000475.5(NR0B1):c.99del:p.Leu34fs	coding	Pathogenic
X	30708066	G	GC	A30708067C	GK	NM_000167.5(GK):c.889_890insC:p.Asp297fs	coding	Pathogenic
X	31122079	A	AT	C31122085T	DMD	NM_000109.4(DMD):c.11023-154dup	noncoding	Benign
X	31126676	TTAA	T	A31126682G	DMD	NM_004006.2(DMD):c.11015-6_11015-4del	noncoding	Benign
X	31147346	TC	T	C31147348T	DMD	NM_000109.4(DMD):c.10701del:p.Met3568fs	coding	Pathogenic
X	31147420	T	TGG	A31147425G	DMD	NM_000109.4(DMD):c.10626_10627dup:p.Gln3543fs	coding	Pathogenic
X	31147437	C	CAT	T31147440A	DMD	NM_004006.3(DMD):c.10633_10634dup:p.Met3545fs	coding	Pathogenic
X	31147446	AG	A	G31147450A	DMD	NM_000109.4(DMD):c.10601del:p.Pro3534fs	coding	Pathogenic
X	31147477	TC	CCCCACTTTAAAGTTTCTTTAAAGTTTTCTTACACCTACATTTAAA	T31147477C	DMD	NM_000109.4(DMD):c.10570_10571delinsTTTAAATGTAGGTGTAAGAAAACTTTAAAGAAACTTTAAAGTGGGG:p.Glu3524delinsPheLysCysArgCysLysLysThrLeuLysLysLeuTer	coding	Pathogenic
X	31147517	T	TC	T31147520C	DMD	NM_000109.4(DMD):c.10530-1dup	coding	Pathogenic
X	31169491	TC	T	C31169493T	DMD	NM_004020.3(DMD):c.2843+9177del	coding	Pathogenic
X	31169496	ACT	A	C31169501A	DMD	NM_004006.3(DMD):c.10494_10495AG[2]:p.Glu3499_Ser3500insTer	coding	Pathogenic
X	31169541	CA	C	A31169542G	DMD	NM_004020.3(DMD):c.2843+9127del	coding	Pathogenic
X	31169542	A	AG	A31169549G	DMD	NM_004006.2(DMD):c.10453dup:p.Leu3485Profs	coding	Pathogenic
X	31169542	AG	A	G31169548A	DMD	NM_004020.3(DMD):c.2843+9126del	coding	Pathogenic
X	31169547	GGA	G	A31169549T	DMD	NM_004020.3(DMD):c.2843+9120_2843+9121del	coding	Pathogenic
X	31169586	CA	C	A31169589T	DMD	NM_004006.3(DMD):c.10409del:p.Leu3470fs	coding	Pathogenic
X	31169589	A	ATT	G31169591T	DMD	NM_004006.2(DMD):c.10406_10407insAA:p.His3469fs	coding	Pathogenic
X	31172374	AT	A	T31172377A	DMD	NM_004020.3(DMD):c.2843+6294del	coding	Pathogenic
X	31172380	AT	A	T31172381A	DMD	NM_004006.2(DMD):c.10361del:p.Tyr3454fs	coding	Pathogenic
X	31173569	G	GT	A31173571T	DMD	NM_004006.3(DMD):c.10297dup:p.Thr3433fs	coding	Pathogenic
X	31177935	G	GA	T31177938A	DMD	NM_004017.3(DMD):c.1019+732dup	coding	Pathogenic
X	31177955	GA	G	A31177956T	DMD	NM_004006.2(DMD):c.10238del:p.Ile3413fs	coding	Pathogenic
X	31177955	GATCAGAGTAACGGGACTGCAAAACAAAAAATGAGGTGGTGAAGGAGACACACGCAAACTCAGCCGCAAAAAAATTTACTGAAAGGTCAAAATAAATAAAATCCAGCCAATTAAGTATGAACCATGGAAAGCAATAGCCAAACCAAGGTGTAAAGTGAATTAAAAGAAAAACACACAGTTGTGTGACTGCC	G	A31177964T	DMD	NM_004006.3(DMD):c.10224-175_10238del	coding	Pathogenic
X	31177963	TAACGGGACTGCAAAACAAAAAATGAGGTGGTGAAGGAGACACACGCAAACTCAGCCGCAAAAAAATTTACTGAAAGGTCAAAATAAATAAAATCCAGCCAATTAAGTATGAACCATGGAAAGCAATAGCCAAACCAAGGTGTAAAGTGAATTAAAAGAAAAACACACAGTTGTGTGACTGCC	T	A31177965T	DMD	NM_004006.2(DMD):c.10224-175_10230del	coding	Pathogenic
X	31177966	CG	C	G31177969A	DMD	NM_004006.3(DMD):c.10227del:p.Val3410fs	coding	Pathogenic
X	31177970	A	AC	T31177972C	DMD	NM_004006.3(DMD):c.10224-1dup	coding	Pathogenic
X	31178681	T	TC	T31178687C	DMD	NM_004006.3(DMD):c.10210dup:p.Asp3404fs	coding	Pathogenic
X	31178741	CT	C	T31178745G	DMD	NM_000109.4(DMD):c.10126del:p.Arg3376fs	coding	Pathogenic
X	31178758	GT	G	T31178764A	DMD	NM_004006.2(DMD):c.10133del:p.Asn3378fs	coding	Pathogenic
X	31178765	AG	A	G31178766T	DMD	NM_000109.4(DMD):c.10102del:p.Val3367_Leu3368insTer	coding	Pathogenic
X	31178770	CT	C	T31178772G	DMD	NM_004006.2(DMD):c.10121del:p.Lys3374fs	coding	Pathogenic
X	31178788	ATCT	A	T31178792C	DMD	NM_004006.3(DMD):c.10098AGA[1]:p.Glu3367del	coding	Pathogenic/Likely_pathogenic
X	31182760	CTT	C	T31182762G	DMD	NM_004006.3(DMD):c.9950_9951del:p.Lys3317fs	coding	Pathogenic
X	31182770	G	GTTAC	A31182775T	DMD	NM_004006.2(DMD):c.9938_9941dup:p.Asn3314delinsLysTer	coding	Pathogenic
X	31182772	T	TA	C31182774A	DMD	NM_004006.3(DMD):c.9939dup:p.Asn3314Ter	coding	Pathogenic
X	31182803	AGCAGCCACTCTGTGCAGGACGG	A	T31182812A	DMD	NM_004006.3(DMD):c.9887_9908del:p.Pro3296fs	coding	Pathogenic
X	31182813	CTG	C	T31182816C	DMD	NM_004006.3(DMD):c.9897_9898del:p.His3299fs	coding	Pathogenic
X	31182821	GACGGGCAGCC	G	G31182824A	DMD	NM_000109.4(DMD):c.9857_9866del:p.Trp3286fs	coding	Pathogenic
X	31182830	C	CCA	C31182836A	DMD	NM_000109.4(DMD):c.9854_9855TG[3]:p.Trp3286fs	coding	Pathogenic
X	31182843	TG	T	G31182847T	DMD	NM_004006.3(DMD):c.9868del:p.Gln3290fs	coding	Pathogenic
X	31182848	TTCCAGTCTCA	T	C31182857A	DMD	NM_000109.4(DMD):c.9830_9839del:p.Met3277fs	coding	Pathogenic
X	31204000	G	GC	A31204006C	DMD	NM_000109.4(DMD):c.9743dup:p.Ser3249fs	coding	Pathogenic
X	31204037	AT	A	T31204040G	DMD	NM_004006.3(DMD):c.9730del:p.Ile3244fs	coding	Pathogenic
X	31206963	G	GAA	T31206973A	DMD	NM_000109.4(DMD):c.9540-305_9540-304dup	noncoding	Benign
X	31209509	A	AT	C31209512T	DMD	NM_004006.2(DMD):c.9551dup:p.Asn3184fs	coding	Pathogenic
X	31209557	CA	C	A31209560T	DMD	NM_000109.4(DMD):c.9479del:p.Leu3160fs	coding	Pathogenic
X	31209586	CATAA	C	A31209590G	DMD	NM_000109.4(DMD):c.9447_9450del:p.Ile3149fs	coding	Pathogenic
X	31209592	TA	T	A31209593G	DMD	NM_000109.4(DMD):c.9444del:p.Ile3149fs	coding	Pathogenic
X	31209626	CA	C	A31209627T	DMD	NM_004006.2(DMD):c.9434del:p.Met3145fs	coding	Pathogenic
X	31209628	TG	T	G31209631C	DMD	NM_004006.3(DMD):c.9432del:p.Met3145fs	coding	Pathogenic
X	31209689	CAA	C	A31209690G	DMD	NM_000109.4(DMD):c.9346_9347del:p.Leu3116fs	coding	Pathogenic
X	31223063	CA	C	A31223064G	DMD	NM_004006.3(DMD):c.9344del:p.Leu3115fs	coding	Pathogenic
X	31260970	GCT	G	C31260973G	DMD	NM_004006.3(DMD):c.9267_9268AG[1]:p.Glu3090fs	coding	Pathogenic
X	31260999	GTTGT	G	T31261003A	DMD	NM_000109.4(DMD):c.9214_9217del:p.Thr3072fs	coding	Pathogenic
X	31261009	T	TC	T31261011C	DMD	NM_004006.3(DMD):c.9231dup:p.Thr3078fs	coding	Pathogenic
X	31323599	TGATA	T	G31323600T	DMD	NM_004006.3(DMD):c.9219_9222del:p.Tyr3072_Tyr3073insTer	coding	Pathogenic
X	31323614	CTTTG	C	T31323619G	DMD	NM_000109.4(DMD):c.9176_9179CAAA[1]:p.Asn3060fs	coding	Pathogenic
X	31323631	GCT	G	T31323637C	DMD	NM_004006.3(DMD):c.9185_9186AG[2]:p.Arg3063fs	coding	Pathogenic
X	31323641	AG	A	G31323644A	DMD	NM_000109.4(DMD):c.9156del:p.Trp3053fs	coding	Pathogenic
X	31348557	GGAAA	G	A31348563T	DMD	NM_000109.4(DMD):c.9130_9133TTTC[1]:p.Leu3045fs	coding	Pathogenic
X	31348593	GT	G	T31348594G	DMD	NM_000109.4(DMD):c.9101del:p.His3034fs	coding	Pathogenic
X	31348633	A	AT	C31348634T	DMD	NM_004006.3(DMD):c.9085_9086insA:p.Val3029fs	coding	Pathogenic
X	31444524	A	AG	T31444527G	DMD	NM_000109.4(DMD):c.9016dup:p.Leu3006fs	coding	Pathogenic
X	31444524	AGGTTATAC	A	T31444528G	DMD	NM_004006.3(DMD):c.9033_9040del:p.Tyr3012fs	coding	Pathogenic
X	31444572	AG	A	G31444574T	DMD	NM_000109.4(DMD):c.8968del:p.Ala2991fs	coding	Pathogenic
X	31444593	TTC	T	C31444597T	DMD	NM_000109.4(DMD):c.8944_8945GA[1]:p.Asn2983fs	coding	Pathogenic
X	31478119	AG	A	G31478121T	DMD	NM_004006.3(DMD):c.8923del:p.Leu2975fs	coding	Pathogenic
X	31478129	GGA	G	A31478135T	DMD	NM_004006.3(DMD):c.8908_8909TC[2]:p.Leu2971fs	coding	Pathogenic
X	31478129	G	GGA	T31478137A	DMD	NM_004006.3(DMD):c.8912_8913dup:p.Gln2972fs	coding	Pathogenic
X	31478225	GA	G	A31478227G	DMD	NM_004006.3(DMD):c.8817del:p.Gln2940fs	coding	Pathogenic
X	31478245	AG	A	G31478248T	DMD	NM_004006.3(DMD):c.8797del:p.Glu2934fs	coding	Pathogenic
X	31478279	AGTGCAGGT	A	G31478280T	DMD	NM_004006.3(DMD):c.8756_8763del:p.Asn2919fs	coding	Pathogenic
X	31478296	TC	T	C31478299A	DMD	NM_004006.3(DMD):c.8746del:p.Glu2916fs	coding	Pathogenic
X	31478311	AC	A	C31478313T	DMD	NM_004006.3(DMD):c.8731del:p.Val2911fs	coding	Pathogenic
X	31478359	T	TC	T31478362C	DMD	NM_000109.4(DMD):c.8659dup:p.Glu2887fs	coding	Pathogenic
X	31478367	AG	A	G31478369C	DMD	NM_000109.4(DMD):c.8651del:p.Pro2884fs	coding	Pathogenic
X	31478979	TTACCTC	T	A31478981G	DMD	NM_004006.3(DMD):c.8666_8668+3del	noncoding	Pathogenic
X	31478997	TAG	T	A31479000T	DMD	NM_000109.4(DMD):c.8626_8627CT[1]:p.Tyr2877fs	coding	Pathogenic
X	31479046	C	CA	G31479048A	DMD	NM_000109.4(DMD):c.8580dup:p.Val2861fs	coding	Pathogenic
X	31479050	CTCAAG	C	T31479051A	DMD	NM_004006.3(DMD):c.8596_8600del:p.Leu2866fs	coding	Pathogenic/Likely_pathogenic
X	31479071	AG	A	G31479073T	DMD	NM_000109.4(DMD):c.8555del:p.Pro2852fs	coding	Pathogenic
X	31479081	GT	G	T31479085C	DMD	NM_004006.3(DMD):c.8569del:p.Thr2857fs	coding	Pathogenic
X	31496883	GA	G	A31496885G	DMD	NM_004006.3(DMD):c.8451del:p.Leu2818fs	coding	Pathogenic
X	31496917	CT	C	T31496918G	DMD	NM_004006.3(DMD):c.8417del:p.Gln2806fs	coding	Pathogenic
X	31496939	TG	T	G31496942A	DMD	NM_004006.3(DMD):c.8395del:p.His2799fs	coding	Pathogenic
X	31507295	CTT	C	T31507299C	DMD	NM_000109.4(DMD):c.8350_8351del:p.Lys2784fs	coding	Pathogenic
X	31507344	TG	T	G31507345T	DMD	NM_004006.3(DMD):c.8326del:p.Gln2776fs	coding	Pathogenic
X	31507407	AG	A	G31507409T	DMD	NM_000109.4(DMD):c.8239del:p.Leu2747fs	coding	Pathogenic
X	31627693	CT	C	T31627697A	DMD	NM_004006.2(DMD):c.8196del:p.Glu2733fs	coding	Pathogenic
X	31627705	TG	T	G31627707A	DMD	NM_000109.4(DMD):c.8160del:p.Lys2721fs	coding	Pathogenic
X	31627744	G	GT	A31627746T	DMD	NM_004006.3(DMD):c.8145dup:p.Gln2716fs	coding	Pathogenic
X	31627777	GCCAGGCAAGAAACTTTT	G	C31627783T	DMD	NM_000109.4(DMD):c.8072_8088del:p.Glu2691fs	coding	Pathogenic
X	31627778	C	CCAGGCAA	G31627786C	DMD	NM_000109.4(DMD):c.8081_8087dup:p.Trp2696fs	coding	Pathogenic
X	31627819	GTAATC	G	A31627822T	DMD	NM_000109.4(DMD):c.8042_8046del:p.Arg2681fs	coding	Pathogenic
X	31627824	CTA	C	A31627826G	DMD	NM_004006.2(DMD):c.8064_8065del:p.His2688fs	coding	Pathogenic
X	31627828	GA	G	A31627829G	DMD	NM_000109.4(DMD):c.8037del:p.His2680fs	coding	Pathogenic
X	31658094	AT	A	T31658097G	DMD	NM_000109.4(DMD):c.7898del:p.Asn2633fs	coding	Pathogenic
X	31679388	A	AT	C31679393T	DMD	NM_004006.3(DMD):c.7858dup:p.Ile2620fs	coding	Pathogenic
X	31679465	CT	C	T31679466G	DMD	NM_000109.4(DMD):c.7757del:p.Gln2586fs	coding	Pathogenic
X	31679475	TC	T	C31679476T	DMD	NM_004006.3(DMD):c.7771del:p.Glu2591fs	coding	Pathogenic
X	31729671	CTT	C	T31729672G	DMD	NM_004006.3(DMD):c.7618_7619del:p.Lys2540fs	coding	Pathogenic
X	31729674	G	GT	C31729680T	DMD	NM_000109.4(DMD):c.7592dup:p.Asn2531fs	coding	Pathogenic
X	31729713	C	CT	G31729715T	DMD	NM_004006.3(DMD):c.7577dup:p.Leu2527fs	coding	Pathogenic
X	31774057	AG	A	G31774058T	DMD	NM_000109.4(DMD):c.7420del:p.Thr2475fs	coding	Pathogenic
X	31819987	TGG	T	G31819988T	DMD	NM_004013.2(DMD):c.-86_-85del	coding	Pathogenic
X	31820015	CT	C	T31820018G	DMD	NM_004013.2(DMD):c.-113del	coding	Pathogenic
X	31820036	T	TA	C31820040A	DMD	NM_004006.2(DMD):c.7247dup:p.Leu2416fs	coding	Pathogenic
X	31820041	GGT	AAAC	G31820041A	DMD	NM_004013.2(DMD):c.-140_-138delinsGTTT	coding	Pathogenic
X	31836738	G	GT	C31836744T	DMD	NM_004006.3(DMD):c.7179dup:p.Pro2394fs	coding	Pathogenic
X	31875216	GGT	G	G31875217T	DMD	NM_004013.2(DMD):c.-313_-312del	coding	Pathogenic
X	31875217	GT	G	T31875219G	DMD	NM_004006.3(DMD):c.7068del:p.Gln2356fs	coding	Pathogenic
X	31875228	ATTTCCAACTG	A	T31875229A	DMD	NM_004013.2(DMD):c.-333_-324del	coding	Pathogenic
X	31875232	CCA	C	C31875233A	DMD	NM_004013.2(DMD):c.-329_-328del	coding	Pathogenic
X	31875258	CA	C	A31875259C	DMD	NM_004006.3(DMD):c.7027del:p.Trp2343fs	coding	Pathogenic
X	31875299	C	CT	C31875307T	DMD	NM_004013.2(DMD):c.-395dup	coding	Pathogenic
X	31875299	CT	C	T31875306C	DMD	NM_004013.2(DMD):c.-395del	coding	Pathogenic
X	31879212	G	GGT	G31879214T	DMD	NM_004006.2(DMD):c.6913-3840_6913-3839insCA	noncoding	Benign
X	31879217	G	GT	G31879218T	DMD	NM_004006.2(DMD):c.6913-3845_6913-3844insA	noncoding	Benign
X	31879688	TA	T	A31879689T	DMD	NM_000109.4(DMD):c.6889-4316del	noncoding	Benign
X	31929700	ATTGT	A	T31929704A	DMD	NM_004013.2(DMD):c.-577_-574del	coding	Pathogenic
X	31932137	AC	A	C31932138T	DMD	NM_004006.3(DMD):c.6704del:p.Ser2235fs	coding	Pathogenic
X	31932168	A	AAAAC	T31932176C	DMD	NM_004013.2(DMD):c.-711_-708dup	coding	Pathogenic
X	31932173	AAATT	A	A31932174C	DMD	NM_004013.2(DMD):c.-716_-713del	coding	Pathogenic
X	31932179	AT	A	T31932182A	DMD	NM_004013.2(DMD):c.-719del	coding	Pathogenic
X	31932189	CTT	C	T31932191G	DMD	NM_004013.2(DMD):c.-730_-729del	coding	Pathogenic
X	31932212	CT	C	T31932216G	DMD	NM_004006.3(DMD):c.6629del:p.Lys2210fs	coding	Pathogenic
X	31968341	C	CT	C31968348T	DMD	NM_004013.2(DMD):c.-770dup	coding	Pathogenic
X	31968341	CT	C	T31968347C	DMD	NM_004006.3(DMD):c.6611del:p.Lys2204fs	coding	Pathogenic
X	31968341	CTT	C	T31968346C	DMD	NM_004006.3(DMD):c.6610_6611del:p.Lys2204fs	coding	Pathogenic
X	31968478	CA	C	A31968480C	DMD	NM_004006.3(DMD):c.6474del:p.Val2159fs	coding	Pathogenic
X	31968479	AAC	A	C31968481G	DMD	NM_004013.2(DMD):c.-909_-908del	coding	Pathogenic
X	32216930	TG	T	G32216931T	DMD	NM_000109.4(DMD):c.6399del:p.Lys2132_Tyr2133insTer	coding	Pathogenic
X	32216960	T	TTG	T32216962G	DMD	NM_000109.4(DMD):c.6369_6370insCA:p.Ile2124fs	coding	Pathogenic
X	32216961	TTG	T	G32216965C	DMD	NM_000109.4(DMD):c.6365_6366CA[1]:p.Gln2123fs	coding	Pathogenic
X	32216961	T	TTG	C32216967G	DMD	NM_000109.4(DMD):c.6365_6366CA[3]:p.Gln2123fs	coding	Pathogenic
X	32216988	TTC	T	C32216990G	DMD	NM_004006.3(DMD):c.6364_6365del:p.Glu2122fs	coding	Pathogenic
X	32217053	TG	T	G32217054T	DMD	NM_004006.3(DMD):c.6300del:p.Asp2100fs	coding	Pathogenic
X	32287580	TG	T	G32287583A	DMD	NM_000109.4(DMD):c.6214del:p.Gln2072fs	coding	Pathogenic
X	32287613	AC	A	C32287614A	DMD	NM_000109.4(DMD):c.6181del:p.Val2061fs	coding	Pathogenic
X	32287615	AG	A	G32287617C	DMD	NM_004006.3(DMD):c.6203del:p.Pro2068fs	coding	Pathogenic
X	32287636	TG	T	G32287637C	DMD	NM_000109.4(DMD):c.6158del:p.Ala2053fs	coding	Pathogenic
X	32287667	CG	C	G32287668A	DMD	NM_004006.3(DMD):c.6151del:p.Arg2051fs	coding	Pathogenic
X	32287687	ACTAT	A	A32287690T	DMD	NM_004006.2(DMD):c.6128_6131del:p.Asp2043fs	coding	Pathogenic
X	32287758	G	GAA	T32287764A	DMD	NM_000109.4(DMD):c.6094-62_6094-61dup	noncoding	Benign
X	32310172	TTG	T	T32310175A	DMD	NM_000109.4(DMD):c.5999_6000CA[1]:p.Gln2001fs	coding	Pathogenic
X	32310214	AT	A	T32310215A	DMD	NM_000109.4(DMD):c.5960del:p.Tyr1987fs	coding	Pathogenic
X	32310226	CA	C	A32310229G	DMD	NM_000109.4(DMD):c.5948del:p.Leu1983fs	coding	Pathogenic
X	32342111	AG	A	G32342112T	DMD	NM_000109.4(DMD):c.5886del:p.Phe1963fs	coding	Pathogenic
X	32342130	AGCAAATTT	A	A32342133T	DMD	NM_000109.4(DMD):c.5860_5867del:p.Lys1954fs	coding	Pathogenic
X	32342139	GCT	G	T32342143A	DMD	NM_000109.4(DMD):c.5855_5856AG[1]:p.Ser1953fs	coding	Pathogenic
X	32342200	G	GC	A32342205C	DMD	NM_004006.3(DMD):c.5821dup:p.Ala1941fs	coding	Pathogenic
X	32343139	TTTTCC	T	C32343144A	DMD	NM_000109.4(DMD):c.5705_5709del:p.Arg1902fs	coding	Pathogenic
X	32343165	AGGCT	A	G32343170A	DMD	NM_004006.3(DMD):c.5704_5707del:p.Ser1902fs	coding	Pathogenic
X	32343175	A	AT	C32343184T	DMD	NM_004006.3(DMD):c.5697dup:p.Leu1900fs	coding	Pathogenic
X	32343175	AT	A	T32343183C	DMD	NM_000109.4(DMD):c.5673del:p.Lys1891fs	coding	Pathogenic
X	32343183	T	TC	A32343185C	DMD	NM_004006.3(DMD):c.5689dup:p.Glu1897fs	coding	Pathogenic
X	32343192	TC	T	C32343194A	DMD	NM_000109.4(DMD):c.5656del:p.Asp1886fs	coding	Pathogenic
X	32343220	GC	G	C32343222T	DMD	NM_000109.4(DMD):c.5628del:p.Arg1876fs	coding	Pathogenic
X	32343232	GATACCACTGATGAGAAATTTCTAGAGCC	G	A32343233T	DMD	NM_000109.4(DMD):c.5589_5616del:p.Lys1863fs	coding	Pathogenic
X	32343267	CTTCT	C	C32343270G	DMD	NM_004006.2(DMD):c.5602_5605del:p.Arg1868fs	coding	Pathogenic
X	32343277	AC	A	C32343279T	DMD	NM_000109.4(DMD):c.5571del:p.Arg1857fs	coding	Pathogenic
X	32345848	A	AAG	G32345849A	DMD	NM_004006.3(DMD):c.5586+94_5586+95insCT	noncoding	Benign
X	32345976	CTGTTT	C	G32345978A	DMD	NM_000109.4(DMD):c.5524_5528del:p.Lys1842fs	coding	Pathogenic
X	32346040	CTT	C	T32346042G	DMD	NM_000109.4(DMD):c.5463_5464del:p.Gly1823fs	coding	Pathogenic
X	32346069	A	ATTGTC	C32346077G	DMD	NM_000109.4(DMD):c.5431_5435dup:p.Asn1812fs	coding	Pathogenic
X	32348442	CCCCTGCTGAATTTCAGCCTCCA	C	C32348443G	DMD	NM_000109.4(DMD):c.5366_5387del:p.Leu1789fs	coding	Pathogenic
X	32348466	T	TG	T32348469G	DMD	NM_004006.3(DMD):c.5387dup:p.Leu1797fs	coding	Pathogenic
X	32348477	AT	A	T32348482G	DMD	NM_004006.3(DMD):c.5376del:p.Lys1792fs	coding	Pathogenic
X	32348493	G	GT	A32348496T	DMD	NM_000109.4(DMD):c.5336dup:p.Asn1779fs	coding	Pathogenic
X	32348495	TA	T	A32348498C	DMD	NM_004006.3(DMD):c.5358del:p.Phe1786fs	coding	Pathogenic
X	32348519	GA	G	A32348521T	DMD	NM_000109.4(DMD):c.5310del:p.Pro1771fs	coding	Pathogenic
X	32362835	GCT	G	C32362838G	DMD	NM_000109.4(DMD):c.5250_5251AG[1]:p.Glu1751fs	coding	Pathogenic
X	32364596	CT	C	T32364601G	DMD	NM_000109.4(DMD):c.5115del:p.Glu1706fs	coding	Pathogenic
X	32364608	GTTTC	G	C32364612T	DMD	NM_000109.4(DMD):c.5100_5103del:p.Lys1700fs	coding	Pathogenic
X	32364634	AGT	A	G32364639C	DMD	NM_004006.3(DMD):c.5100_5101del:p.Leu1701fs	coding	Pathogenic
X	32364638	TG	AATGAATTCATTCAT	T32364638A	DMD	NM_000109.4(DMD):c.5073_5074delinsATGAATGAATTCATT:p.Asp1691_Thr1692delinsGluTer	coding	Pathogenic
X	32365107	CTCCT	C	C32365110T	DMD	NM_000109.4(DMD):c.4910_4913del:p.Lys1637fs	coding	Pathogenic
X	32365126	GT	CA	G32365126C	DMD	NM_000109.4(DMD):c.4894_4895delinsTG:p.Thr1632Ter	coding	Pathogenic
X	32365126	GT	G	T32365130C	DMD	NM_004006.2(DMD):c.4918del:p.Thr1640fs	coding	Pathogenic
X	32365129	TTC	T	T32365130A	DMD	NM_004006.3(DMD):c.4914_4915del:p.Lys1639fs	coding	Pathogenic
X	32365136	CCTCTCCT	C	C32365137A	DMD	NM_004006.2(DMD):c.4902_4908del:p.Gly1635fs	coding	Pathogenic
X	32365183	ATC	A	C32365187T	DMD	NM_004006.3(DMD):c.4858_4859GA[1]:p.Glu1620fs	coding	Pathogenic
X	32380567	CTT	C	T32380569G	DMD	NM_000109.4(DMD):c.4762_4763del:p.Lys1588fs	coding	Pathogenic
X	32380665	GCTTT	G	T32380672G	DMD	NM_004006.3(DMD):c.4682_4685AAAG[1]:p.Arg1562fs	coding	Pathogenic
X	32386373	A	AT	C32386378T	DMD	NM_000109.4(DMD):c.4586dup:p.Asn1529fs	coding	Pathogenic
X	32386414	T	TTA	C32386418A	DMD	NM_004006.3(DMD):c.4568_4569dup:p.Lys1524Ter	coding	Pathogenic
X	32386427	CACTTCAG	C	G32386434C	DMD	NM_000109.4(DMD):c.4526_4532del:p.Ser1509fs	coding	Pathogenic
X	32386434	GACTTC	G	T32386443C	DMD	NM_000109.4(DMD):c.4516_4520GAAGT[1]:p.Val1507_Lys1508insTer	coding	Pathogenic
X	32386442	TTCAC	T	C32386446G	DMD	NM_000109.4(DMD):c.4514_4517del:p.Ser1505fs	coding	Pathogenic
X	32386443	TCACTC	T	C32386444A	DMD	NM_004006.3(DMD):c.4536_4540del:p.Val1515_Lys1516insTer	coding	Pathogenic
X	32386448	CAG	C	G32386450C	DMD	NM_000109.4(DMD):c.4510_4511del:p.Leu1504fs	coding	Pathogenic
X	32386460	CA	C	A32386462G	DMD	NM_000109.4(DMD):c.4499del:p.Leu1500fs	coding	Pathogenic
X	32389525	TACTACTTCCTGTTCCAC	T	A32389529C	DMD	NM_004006.3(DMD):c.4477_4493del:p.Val1493fs	coding	Pathogenic
X	32389546	CTT	C	T32389548G	DMD	NM_004006.2(DMD):c.4471_4472del:p.Lys1491fs	coding	Pathogenic
X	32389643	CG	C	G32389644A	DMD	NM_004006.3(DMD):c.4375del:p.Arg1459fs	coding	Pathogenic
X	32389668	A	AT	C32389675T	DMD	NM_004006.3(DMD):c.4350dup:p.Leu1451fs	coding	Pathogenic
X	32390099	CT	C	T32390102G	DMD	NM_004006.3(DMD):c.4315del:p.Arg1439fs	coding	Pathogenic
X	32390099	CTT	C	T32390101G	DMD	NM_004006.2(DMD):c.4314_4315del:p.Arg1439fs	coding	Pathogenic
X	32390105	GCAGC	G	A32390107T	DMD	NM_004006.3(DMD):c.4306_4309del:p.Ala1436fs	coding	Pathogenic
X	32390119	CT	C	T32390120G	DMD	NM_004006.2(DMD):c.4295del:p.Gln1432fs	coding	Pathogenic
X	32390123	TTA	T	A32390125G	DMD	NM_000109.4(DMD):c.4266_4267del:p.His1422fs	coding	Pathogenic
X	32411833	CT	C	T32411834C	DMD	NM_000109.4(DMD):c.4127del:p.Glu1376fs	coding	Pathogenic
X	32438251	AG	A	G32438252T	DMD	NM_000109.4(DMD):c.4036del:p.Leu1346fs	coding	Pathogenic
X	32438331	TG	T	G32438332C	DMD	NM_004006.3(DMD):c.3980del:p.Ala1327fs	coding	Pathogenic
X	32441177	T	TAC	T32441181C	DMD	NM_004006.3(DMD):c.3921+1_3921+2dup	noncoding	Pathogenic
X	32441215	GA	G	A32441217T	DMD	NM_000109.4(DMD):c.3861del:p.Pro1288fs	coding	Pathogenic
X	32441283	GA	G	A32441284C	DMD	NM_000109.4(DMD):c.3793del:p.Ser1265fs	coding	Pathogenic
X	32448457	TCCAAAG	CC	T32448457C	DMD	NM_000109.4(DMD):c.3755_3761delinsGG:p.Thr1252fs	coding	Pathogenic
X	32448494	GC	G	C32448496A	DMD	NM_000109.4(DMD):c.3723del:p.Trp1241fs	coding	Pathogenic
X	32448528	CT	C	T32448534A	DMD	NM_000109.4(DMD):c.3689del:p.Lys1230fs	coding	Pathogenic
X	32448602	C	CT	C32448606T	DMD	NM_000109.4(DMD):c.3615dup:p.Val1206fs	coding	Pathogenic
X	32448602	CT	C	T32448605C	DMD	NM_004006.3(DMD):c.3639del:p.Lys1213_Val1214insTer	coding	Pathogenic
X	32448611	CT	C	T32448616G	DMD	NM_004006.3(DMD):c.3630del:p.Glu1211fs	coding	Pathogenic
X	32448634	GCT	G	C32448639G	DMD	NM_004006.2(DMD):c.3606_3607del	coding	Pathogenic
X	32454646	CT	C	T32454659A	DMD	NM_000109.4(DMD):c.3579+15del	noncoding	Benign
X	32454659	T	TA	C32454661A	DMD	NM_000109.4(DMD):c.3579+2dup	noncoding	Pathogenic
X	32454728	CTCTT	C	T32454729C	DMD	NM_004006.3(DMD):c.3533_3536del:p.Glu1178fs	coding	Pathogenic
X	32454764	TGATA	T	A32454768C	DMD	NM_000109.4(DMD):c.3473_3476del:p.Leu1158fs	coding	Pathogenic
X	32454785	TAC	T	C32454787G	DMD	NM_004006.3(DMD):c.3478_3479del:p.Val1160fs	coding	Pathogenic
X	32454830	GACCTTCC	G	C32454833A	DMD	NM_004006.2(DMD):c.3433-5_3434del	coding	Pathogenic
X	32454833	CT	GG	C32454833G	DMD	NM_000109.4(DMD):c.3409-2_3409-1delinsCC	noncoding	Pathogenic
X	32463481	T	TTC	G32463485C	DMD	NM_000109.4(DMD):c.3364_3365dup:p.Leu1123fs	coding	Pathogenic
X	32463504	A	ACT	G32463509C	DMD	NM_000109.4(DMD):c.3339_3340AG[3]:p.Phe1115fs	coding	Pathogenic
X	32463504	ACT	A	C32463507G	DMD	NM_000109.4(DMD):c.3339_3340AG[1]:p.Glu1114fs	coding	Pathogenic
X	32463523	CT	C	T32463526A	DMD	NM_004006.3(DMD):c.3347del:p.Lys1116fs	coding	Pathogenic
X	32463557	AGACTG	A	A32463559G	DMD	NM_000109.4(DMD):c.3285_3289del:p.Ser1096fs	coding	Pathogenic
X	32463574	CTG	C	T32463575A	DMD	NM_004006.3(DMD):c.3295_3296del:p.Gln1099fs	coding	Pathogenic
X	32464583	TA	T	A32464584C	DMD	NM_000109.4(DMD):c.3252+2del	noncoding	Pathogenic
X	32464604	C	CT	A32464611T	DMD	NM_000109.4(DMD):c.3233dup:p.Gln1079fs	coding	Pathogenic
X	32464604	CT	C	T32464610A	DMD	NM_004006.3(DMD):c.3257del:p.Lys1086fs	coding	Pathogenic
X	32464623	TC	T	C32464627A	DMD	NM_000109.4(DMD):c.3214del:p.Asp1072fs	coding	Pathogenic
X	32464668	GC	G	C32464670A	DMD	NM_004006.3(DMD):c.3193del:p.Ala1065fs	coding	Pathogenic
X	32468502	A	AT	C32468508T	DMD	NM_004006.3(DMD):c.3157dup:p.Ile1053fs	coding	Pathogenic
X	32468548	CAA	C	A32468549C	DMD	NM_004006.3(DMD):c.3110_3111del:p.Val1037fs	coding	Pathogenic
X	32468650	TCA	T	C32468653G	DMD	NM_004006.3(DMD):c.3008_3009del:p.Val1003fs	coding	Pathogenic
X	32468699	AC	A	C32468700T	DMD	NM_004006.3(DMD):c.2960del:p.Ser987fs	coding	Pathogenic
X	32472178	GTC	G	C32472182G	DMD	NM_000109.4(DMD):c.2907_2908GA[1]:p.Arg970fs	coding	Pathogenic
X	32472198	TA	T	A32472199G	DMD	NM_000109.4(DMD):c.2890del:p.Tyr964fs	coding	Pathogenic
X	32472259	TG	T	G32472260A	DMD	NM_004006.3(DMD):c.2853del:p.Arg952fs	coding	Pathogenic
X	32472296	CAA	C	A32472298G	DMD	NM_000109.4(DMD):c.2791_2792del:p.Leu931fs	coding	Pathogenic
X	32472309	AC	A	C32472310T	DMD	NM_000109.4(DMD):c.2780-1del	coding	Pathogenic
X	32484928	GCT	G	C32484931T	DMD	NM_004006.3(DMD):c.2790_2791AG[1]:p.Glu931fs	coding	Pathogenic
X	32484988	C	CA	G32484992A	DMD	NM_000109.4(DMD):c.2709dup:p.Val904fs	coding	Pathogenic
X	32485013	TC	T	C32485015T	DMD	NM_004006.3(DMD):c.2708del:p.Gly903fs	coding	Pathogenic
X	32485077	TC	T	C32485078T	DMD	NM_000109.4(DMD):c.2620del:p.Asp874fs	coding	Pathogenic
X	32485083	AG	A	G32485084C	DMD	NM_000109.4(DMD):c.2614del:p.Leu872fs	coding	Pathogenic
X	32491281	C	CA	T32491285A	DMD	NM_004006.3(DMD):c.2617dup:p.Cys873fs	coding	Pathogenic
X	32491295	AC	A	C32491296T	DMD	NM_000109.4(DMD):c.2579del:p.Ser860fs	coding	Pathogenic
X	32491296	CTT	C	T32491299A	DMD	NM_000109.4(DMD):c.2577_2578del:p.Gln861fs	coding	Pathogenic
X	32491320	GGGGTGGT	G	G32491325T	DMD	NM_004006.3(DMD):c.2572_2578del:p.Thr858fs	coding	Pathogenic
X	32491351	CA	C	A32491352G	DMD	NM_000109.4(DMD):c.2523del:p.Glu842fs	coding	Pathogenic
X	32491352	AG	A	G32491353C	DMD	NM_004006.3(DMD):c.2546del:p.Ala849fs	coding	Pathogenic
X	32491390	T	TA	T32491392A	DMD	NM_004006.3(DMD):c.2508dup:p.Asn837Ter	coding	Pathogenic
X	32491432	GTCTC	G	T32491435A	DMD	NM_000109.4(DMD):c.2437_2438GA[1]:p.Glu813fs	coding	Pathogenic
X	32491456	AT	A	T32491458C	DMD	NM_004006.3(DMD):c.2442del:p.Glu814fs	coding	Pathogenic
X	32491459	CG	C	G32491460A	DMD	NM_004006.3(DMD):c.2439del:p.Ile813fs	coding	Pathogenic
X	32491475	C	CT	A32491476T	DMD	NM_004006.2(DMD):c.2423_2424insA:p.Asn809fs	coding	Pathogenic
X	32491491	TG	T	G32491492T	DMD	NM_004006.3(DMD):c.2407del:p.Gln803fs	coding	Pathogenic
X	32501817	TTC	T	T32501820A	DMD	NM_000109.4(DMD):c.2290_2291GA[1]:p.Lys765fs	coding	Pathogenic
X	32501837	TATGG	T	A32501838C	DMD	NM_000109.4(DMD):c.2270_2273del:p.Ala757fs	coding	Pathogenic
X	32517995	ATGCATAACCTACATTGAC	A	G32517997T	DMD	NM_004006.3(DMD):c.2287_2292+12del	noncoding	Pathogenic
X	32518014	TTTTTC	T	C32518019A	DMD	NM_004006.2(DMD):c.2281_2285del:p.Glu761fs	coding	Pathogenic
X	32518046	TC	T	C32518048G	DMD	NM_004006.3(DMD):c.2253del:p.Lys752fs	coding	Pathogenic
X	32518104	G	GT	G32518106T	DMD	NM_000109.4(DMD):c.2171dup:p.His724fs	coding	Pathogenic
X	32545194	CT	C	T32545196C	DMD	NM_000109.4(DMD):c.2108del:p.Lys703fs	coding	Pathogenic
X	32545197	CT	C	T32545201G	DMD	NM_000109.4(DMD):c.2105del:p.Lys702fs	coding	Pathogenic
X	32545201	TG	T	G32545205A	DMD	NM_000109.4(DMD):c.2101del:p.Gln701fs	coding	Pathogenic
X	32545212	TG	T	G32545214T	DMD	NM_004006.3(DMD):c.2114del:p.Pro705fs	coding	Pathogenic
X	32545215	TG	T	G32545217A	DMD	NM_004006.2(DMD):c.2111del:p.Pro704fs	coding	Pathogenic
X	32545225	TC	T	C32545226T	DMD	NM_004006.3(DMD):c.2101del:p.Glu701fs	coding	Pathogenic
X	32545250	G	GT	C32545253T	DMD	NM_000109.4(DMD):c.2052dup:p.Gln685fs	coding	Pathogenic
X	32545262	T	TC	A32545264C	DMD	NM_004006.3(DMD):c.2064dup:p.Thr689fs	coding	Pathogenic
X	32545273	ACT	A	C32545274G	DMD	NM_000109.4(DMD):c.2028_2029del:p.Val677fs	coding	Pathogenic
X	32564735	TGTATTCCTGGAGGCAATACTACAAACTTCATGTCTCCAAAAGGCATTTCCTAAGTGCTACTTATCAGATGTCAGGTCTCAAGAAAACAAATTCCATGTACTTGTCTCAATATAGAGGAAATATTTGCCTAAAATCTATTGAATATGGAAGTGTATGCCTGTGCATTGAGCTATGAATTTTGAGTAAAGTTATTCCTTATAATGCCAGGCTATGTGGCAGAATATGTTAAATACTATTATATATAATGTTTATATCTTGAATGACTACTCATTATTCTACCATCCAACTACATAAGACAAAAAGAGGTTCAACTTTTAACGATACCCCATTTTAGTGACTAAATCTTTAAAAATTATTATAATAAAACCACATACCCCAAATGTAGCTGAGATGTTTTCATAATCTACAGCCCGTATGTGTTAGTATAACTAAGCCACATTCATAATTTTATGAAATCAGCAGTCTATGGCAGAAAAGGTACAATAGTCAGATAATTAACTACACTAATAAAAAACTTTCCAAGAAATCAAAAGACCTGAACCCTAGTTCTCCTACCACTAACTTCTCTTGAAAAATTTACTTTTCTTCCCTAAGTTTCATTTTTCTCAAGAGTAAAACGGAGTTGGCTAATGTTCCTCGTGGTTCTAGCAATCTCTGATTTGGGGTTAGACTGTGATTATACAGTTCCCAGCATTTTGTTCGCCTGCTCTAAGTCACTCAGTTCCCCGTTACTATTGGGCTGGAAGAAATTCACTCTAGGGCAGTAACAAGTTCAGTTAATTAGCACTCTACCTCACCACCATTCTCCAACAACAAGACAGGCAAAAGAATCATGTTTTTATTTAACTAAACACAGGGCAAAAACTAATCTGGTTGCTTCTTTTGTAGGGTTATAATGTCACTCTCTTAATGCAGGTTTAAAAAATCTCTGAGATAGTCTGTAGCATGATAATTGGTATCACTAACCTGTGCTGTACTCTTTTCAA	T	A32564738T	DMD	NM_004006.3(DMD):c.1973_1992+966del	noncoding	Pathogenic
X	32565712	CTCTTT	C	T32565715A	DMD	NM_000109.4(DMD):c.1953_1957del:p.Lys652fs	coding	Pathogenic
X	32565714	CTT	C	T32565717C	DMD	NM_000109.4(DMD):c.1954_1955del:p.Lys652fs	coding	Pathogenic
X	32565737	TA	T	A32565738T	DMD	NM_000109.4(DMD):c.1932del:p.Asp644fs	coding	Pathogenic
X	32573546	CT	C	T32573548G	DMD	NM_000109.4(DMD):c.1771del:p.Ser591fs	coding	Pathogenic
X	32573550	A	AT	A32573552T	DMD	NM_004006.3(DMD):c.1791dup:p.Ser598fs	coding	Pathogenic
X	32573553	AC	A	C32573554A	DMD	NM_004006.3(DMD):c.1788del:p.Met596fs	coding	Pathogenic
X	32573569	T	TTTAA	A32573574T	DMD	NM_000109.4(DMD):c.1745_1748dup:p.Lys583delinsAsnTer	coding	Pathogenic
X	32573607	C	CT	C32573613T	DMD	NM_004006.3(DMD):c.1734dup:p.Glu579fs	coding	Pathogenic
X	32573623	TG	T	G32573624C	DMD	NM_000109.4(DMD):c.1694del:p.Ala565fs	coding	Pathogenic
X	32573628	T	TA	G32573634A	DMD	NM_004006.3(DMD):c.1713dup:p.Ser572Ter	coding	Pathogenic
X	32573745	CT	C	T32573746G	DMD	NM_004006.3(DMD):c.1703del:p.Gln568fs	coding	Pathogenic
X	32573755	G	GT	A32573757T	DMD	NM_004006.3(DMD):c.1693dup:p.Thr565fs	coding	Pathogenic
X	32573781	G	GTCTT	G32573786T	DMD	NM_004006.3(DMD):c.1664_1667dup:p.Asp556fs	coding	Pathogenic
X	32573789	A	ATTAC	A32573790T	DMD	NM_000109.4(DMD):c.1635_1636insGTAA:p.Leu546fs	coding	Pathogenic
X	32595781	AG	A	G32595782T	DMD	NM_000109.4(DMD):c.1553del:p.Thr518fs	coding	Pathogenic
X	32595822	TGTGA	T	T32595828A	DMD	NM_000109.4(DMD):c.1505_1508TCAC[1]:p.His504fs	coding	Pathogenic
X	32595824	T	TGA	T32595828A	DMD	NM_000109.4(DMD):c.1509_1510dup:p.His504fs	coding	Pathogenic
X	32595828	TGA	T	G32595833A	DMD	NM_004006.3(DMD):c.1529_1530del:p.Leu510fs	coding	Pathogenic
X	32595828	T	TG	A32595830G	DMD	NM_000109.4(DMD):c.1506dup:p.Thr503fs	coding	Pathogenic
X	32614303	CT	C	T32614305A	DMD	NM_000109.4(DMD):c.1457del:p.Lys486fs	coding	Pathogenic
X	32614308	GT	G	T32614310G	DMD	NM_000109.4(DMD):c.1452del:p.Gln484fs	coding	Pathogenic
X	32614376	CTTTCTTCTGTTTTTGTTAGCCA	C	T32614377G	DMD	NM_000109.4(DMD):c.1363_1384del:p.Trp455fs	coding	Pathogenic
X	32614413	TC	T	C32614414A	DMD	NM_000109.4(DMD):c.1347del:p.Glu451fs	coding	Pathogenic
X	32614442	A	ACT	A32614447C	DMD	NM_004006.3(DMD):c.1341_1342dup:p.Val448fs	coding	Pathogenic
X	32644139	G	GT	C32644145T	DMD	NM_004006.3(DMD):c.1323dup:p.Gln442fs	coding	Pathogenic
X	32644156	A	AC	T32644160C	DMD	NM_000109.4(DMD):c.1282dup:p.Val428fs	coding	Pathogenic
X	32644167	T	TTC	C32644170T	DMD	NM_004006.3(DMD):c.1294_1295dup:p.Cys433fs	coding	Pathogenic
X	32644179	AT	A	T32644182A	DMD	NM_004006.3(DMD):c.1283del:p.Asn428fs	coding	Pathogenic/Likely_pathogenic
X	32644192	AT	A	T32644193C	DMD	NM_004006.3(DMD):c.1270del:p.Gln423_Met424insTer	coding	Pathogenic
X	32644203	T	TA	C32644205A	DMD	NM_004006.3(DMD):c.1259dup:p.Gln421fs	coding	Pathogenic
X	32644207	T	TCA	G32644210C	DMD	NM_000109.4(DMD):c.1230_1231dup:p.Glu411fs	coding	Pathogenic
X	32644314	CT	C	T32644315G	DMD	NM_004006.2(DMD):c.1150-2del	noncoding	Pathogenic
X	32644968	TG	T	G32644969A	DMD	NM_004006.3(DMD):c.1144del:p.His382fs	coding	Pathogenic
X	32644984	C	CT	C32644988T	DMD	NM_000109.4(DMD):c.1104dup:p.Asp369fs	coding	Pathogenic
X	32645042	AG	A	G32645043A	DMD	NM_000109.4(DMD):c.1046del:p.Ser349fs	coding	Pathogenic
X	32645065	C	CT	C32645068T	DMD	NM_000109.4(DMD):c.1023dup:p.Glu342fs	coding	Pathogenic
X	32645141	AG	A	G32645142C	DMD	NM_004006.3(DMD):c.971del:p.Ala324fs	coding	Pathogenic
X	32697819	TC	T	C32697820T	DMD	NM_000109.4(DMD):c.936+50del	noncoding	Benign
X	32697972	A	AT	A32697974T	DMD	NM_000109.4(DMD):c.833dup:p.Tyr278Ter	coding	Pathogenic
X	32697990	GA	G	A32697991C	DMD	NM_004006.3(DMD):c.839del:p.Val280fs	coding	Pathogenic
X	32699165	CTT	C	T32699167A	DMD	NM_000109.4(DMD):c.752_753del:p.Lys251fs	coding	Pathogenic
X	32699168	T	TA	G32699170A	DMD	NM_004006.3(DMD):c.774dup:p.Lys259Ter	coding	Pathogenic
X	32699171	GTGGCCTTGGCAACATTTCCACTTCCTGGATGGCTTCAATGCTCACTTGTTGAGGCAAAACTTGGAAGAGTGATGTGATGTACATTAAGATGGACTTCTTATCTGGATAGGTGGTATCAACATCTGTAAGCACATTAACACTACACATCAATTTTTGGTTTCTATATTTGAGACTCTAAAAGGATAATGAACAAATCAAAGTTAAAGGAAGACGATAGATTAATGAACAGTGAATTGTCCATGAATGTCCTCCAGAGACTAATTAGAACATGAGAATGAGGCCTAAAATGTCTTTCCAATTTGGCAGACCAATGAGATGAGCAGTAAAGTTAATTTATTTTCCTTGTTCATATAAAAACTTCATTCCATATTACTTTTTCCTAAGTCAAATTGCCAAACTAGCCCATCTAACAGAGTAGCTTTCATTAGATAAGAAACAAAAATAAAAGATTACATTTTCCCTCCAATGGAAAGTTATATTAACATGTCAATTCAAATGGTGCACTGGTAATTAAACAAATACACAAAATGGTTTACCGCTTTGGTTCTCAGTAAAGAAACCTGATACCTTTTAACTGAATGTTGCTGATATTAAAGTATGCAGAGAGCTAAATAAGTCTCTGCTGAAATGAGTCATGTATCCACAATATAAATTAAACAGAAAAATACCATATAATGATTTTTACTATTCCGTGTATGTTAAAAATATTTGTTTACATTGTGGTGCATGGGATAAAGTAGAATATCACTTTCCTTCTCAGACATTAGAGACAAATGTAAAAGTCCCGCACATTAAGTTGATCTGACTTCATATCCTTTGCCACATCCAGAAAGTGAATGAAACGCAGCATTTAAAGTCAATAATACTTTGTAATAACACATATAAAGTGGCAGCTCCTTCAAAAGATTCATTTGCTACTTGGCATTAAAATTTACTTACTGCACTCATTCCAGTGAACCAAGATGTAAAGTAATCCTTTATGTGAAGTATGTCATTAGTACTAGAAATGTTAACACATAAGTTCTGACTATGAAATGCTAGCATTTCATTGTCATCCTTTTTCATCCTTTAAAAAGAAGGAAATTTTGTCATTGAGACAGCATGTGTAAATCTGGAGGATATTAAGTGAAATAAGCCAGGCACAGAAAGATAAGTACCACATGATCTCACTAACACATGGAATCTAAAAAGTTGAATTCATAGAAGTAGAGAGTAGAATGGTGTTTACCAGGGGCTGTGGGGCAGGGGTTGGGAAGATGTTGGTCAAAGGACACAAAATTTCAGTTAGATAGGAAAAATAAGTTCAGGAGATCTATTGTACAACCTAGTTTATAACAATGTATTGTATTCCTAAAAATTGCTGCGAGAGTAGATATTAAGTATACTCACCATGAAACATGCTAAGCATATGAAGTAAAACATGTATTAATTAGTTCAATGTAGCCATTCCAGAACGTATACATATTTCAAAACATCGTGTTGTACATGATAAATGTATGCAATTTTAGTTTTTTAATCATTAATGAATATAAAAATCAAAGATAAAAGATAAACATAAATCCTGGCAGGAGGTCAAGGTAATGTGGCAATGTATTTTCCTTGCCATACAATTTATCTTAGCTTAACTACTATTAAGATATCTGTATTCAGTATGTATATTCTGATCAGGTGTTCTGATTATAAGTGAAAAAGCCAAGAGTAAAGTCTCAAGTCCGTTAGCACAAAAGCAGGTTGAACAAGTGACTTCATCAATTCTTTTGCAAGTATCAGAACCATGATTAATCAGAACAGCTATTTTTAAAGTATTTTTAAAAAGAGTTACAAGAGACGAAAAAATTAATGTTCCTTGGTCTACTTCTATCCGTAGAACAATACAGTGCTTCTCAATTCTTAATGTACATATGAATCACCTGGGGATCTTTTAAAACTACAGAATCTGATTCAATAGA	G	G32699173C	DMD	NM_004006.2(DMD):c.650-1827_771del	coding	Pathogenic
X	32699233	TG	T	G32699235A	DMD	NM_004006.3(DMD):c.709del:p.Gln237fs	coding	Pathogenic
X	32699239	A	AGTGAT	A32699252G	DMD	NM_000109.4(DMD):c.670_674ATCAC[3]:p.Leu227fs	coding	Pathogenic
X	32699264	ACTT	A	C32699268A	DMD	NM_000109.4(DMD):c.649_651AAG[1]:p.Lys218del	coding	Pathogenic
X	32699286	A	AT	C32699288T	DMD	NM_000109.4(DMD):c.632dup:p.Asp211fs	coding	Pathogenic
X	32809505	G	GTA	G32809508T	DMD	NM_004006.3(DMD):c.635_636dup:p.Leu213fs	coding	Pathogenic
X	32809511	TC	T	C32809512T	DMD	NM_000109.4(DMD):c.606del:p.Lys203fs	coding	Pathogenic
X	32809514	CT	C	T32809515A	DMD	NM_000109.4(DMD):c.603del:p.Ile201fs	coding	Pathogenic
X	32809543	A	AATGC	T32809551C	DMD	NM_000109.4(DMD):c.571_574dup:p.Phe192fs	coding	Pathogenic
X	32809594	C	CA	G32809596A	DMD	NM_004006.2(DMD):c.547dup:p.Trp183fs	coding	Pathogenic
X	32816474	CTA	C	A32816476G	DMD	NM_000109.4(DMD):c.498_499del:p.His166fs	coding	Pathogenic
X	32816519	G	GGT	T32816520G	DMD	NM_000109.4(DMD):c.454_455insAC:p.Thr152fs	coding	Pathogenic
X	32816530	T	CC	T32816530C	DMD	NM_000109.4(DMD):c.444delinsGG:p.Ile149fs	coding	Pathogenic
X	32816553	GA	G	A32816554G	DMD	NM_004006.3(DMD):c.444del:p.Arg149fs	coding	Pathogenic
X	32816569	CCAGCTCAGGAGAAT	C	A32816571T	DMD	NM_000109.4(DMD):c.391_404del:p.Ile131fs	coding	Pathogenic
X	32816584	CTT	C	T32816587C	DMD	NM_000109.4(DMD):c.388_389del:p.Lys130fs	coding	Pathogenic
X	32816589	C	CACTGTTG	G32816597A	DMD	NM_004006.3(DMD):c.402_408dup:p.Glu137delinsGlnGlnTer	coding	Pathogenic
X	32816620	A	AT	C32816626T	DMD	NM_000109.4(DMD):c.353dup:p.Asn118fs	coding	Pathogenic
X	32816620	AT	A	T32816625C	DMD	NM_000109.4(DMD):c.353del:p.Asn118fs	coding	Pathogenic
X	32816632	AT	A	T32816637G	DMD	NM_004010.3(DMD):c.-5del	coding	Pathogenic
X	32823295	CT	C	T32823296G	DMD	NM_004010.3(DMD):c.-14del	coding	Pathogenic
X	32823330	G	GA	G32823332A	DMD	NM_004006.3(DMD):c.321dup:p.Leu108fs	coding	Pathogenic
X	32823332	G	GT	C32823334T	DMD	NM_004010.3(DMD):c.-51dup	coding	Pathogenic
X	32823345	TTCCATCTACGATG	T	C32823348A	DMD	NM_004010.3(DMD):c.-76_-64del	coding	Pathogenic
X	32823360	C	CA	G32823362A	DMD	NM_004010.3(DMD):c.-79dup	coding	Pathogenic
X	32823369	C	CA	T32823372A	DMD	NM_004006.2(DMD):c.282dup:p.Gly95fs	coding	Pathogenic
X	32823371	AT	A	T32823372A	DMD	NM_004006.2(DMD):c.280del:p.Ile94fs	coding	Pathogenic
X	32823386	AC	A	C32823388T	DMD	NC_000023.11:g.32823388del	coding	Pathogenic
X	32844782	C	CAT	T32844785A	DMD	NM_004006.3(DMD):c.263_264dup:p.Val89fs	coding	Pathogenic
X	32844795	CA	C	A32844799C	DMD	NM_004006.2(DMD):c.251del:p.Leu84fs	coding	Pathogenic
X	32844808	G	GC	T32844811C	DMD	NM_004010.3(DMD):c.-132dup	coding	Pathogenic
X	32849730	G	GT	G32849736T	DMD	NM_004006.3(DMD):c.183dup:p.Leu62fs	coding	Pathogenic
X	32849734	T	TTGCCC	T32849742C	DMD	NM_004010.3(DMD):c.-195_-191dup	coding	Pathogenic
X	32849735	TG	T	G32849736C	DMD	NM_004006.3(DMD):c.178del:p.Gln60fs	coding	Pathogenic
X	32849760	C	CT	A32849762T	DMD	NM_004010.3(DMD):c.-217dup	coding	Pathogenic
X	32849772	T	TC	A32849776C	DMD	NM_004010.3(DMD):c.-229dup	coding	Pathogenic
X	32849775	C	CAT	C32849778A	DMD	NM_004010.3(DMD):c.-233_-232dup	coding	Pathogenic
X	32849782	T	TA	G32849784A	DMD	NM_004006.3(DMD):c.131dup:p.Gln45fs	coding	Pathogenic
X	32849828	T	TA	T32849837A	DMD	NM_000109.4(DMD):c.70-16dup	noncoding	Benign/Likely_benign
X	33020124	ACAAACCATTCTTACC	A	C33020125T	DMD	NM_004006.3(DMD):c.93_93+14del	noncoding	Pathogenic
X	33020133	TCTTAC	T	C33020138G	DMD	NM_004006.3(DMD):c.93+1_93+5del	noncoding	Pathogenic
X	33020143	GA	G	A33020147T	DMD	NM_004006.3(DMD):c.88del:p.Ser30fs	coding	Pathogenic
X	33020173	GT	G	T33020177C	DMD	NM_004006.3(DMD):c.58del:p.Thr20fs	coding	Pathogenic
X	33020178	CT	C	T33020182G	DMD	NM_004006.3(DMD):c.53del:p.Lys18fs	coding	Pathogenic
X	33020187	AT	A	T33020188C	DMD	NM_004006.3(DMD):c.44del:p.Asp15fs	coding	Pathogenic
X	33020190	TTC	T	C33020194T	DMD	NM_004006.3(DMD):c.38_39GA[1]:p.Glu14fs	coding	Pathogenic
X	33020192	CT	C	T33020193C	DMD	NM_004006.3(DMD):c.39del:p.Glu14fs	coding	Pathogenic
X	33020193	TCTTTC	T	C33020194A	DMD	NM_004010.3(DMD):c.-336_-332del	coding	Pathogenic
X	33211280	AC	A	C33211281A	DMD	NM_004006.3(DMD):c.31+1del	noncoding	Pathogenic
X	33211282	AAC	A	C33211284G	DMD	NM_004006.3(DMD):c.29_30del:p.Cys10fs	coding	Pathogenic
X	33211283	AC	A	C33211284A	DMD	NM_000109.4(DMD):c.7+127975del	coding	Pathogenic
X	33211284	CA	C	A33211285G	DMD	NM_000109.4(DMD):c.7+127974del	coding	Pathogenic
X	33211293	AC	A	C33211294T	DMD	NM_000109.4(DMD):c.7+127965del	coding	Pathogenic
X	33211298	TT	A	T33211298A	DMD	NM_000109.4(DMD):c.7+127960_7+127961delinsT	coding	Pathogenic
X	37728136	CT	C	T37728140C	XK	NM_021083.4(XK):c.1013del:p.Phe338fs	coding	Pathogenic
X	37780098	T	TGAGG	G37780104A	CYBB	NM_000397.3(CYBB):c.23_26dup:p.Leu10fs	coding	Pathogenic
X	37782091	GTTTGGCTGGGGTTGAACGTCTTCCTC	G	G37782096T	CYBB	NM_000397.3(CYBB):c.54_79del:p.Trp18fs	coding	Pathogenic
X	37782119	TTGTC	T	T37782122G	CYBB	NM_000397.3(CYBB):c.80_83del:p.Val27fs	coding	Pathogenic
X	37782126	GT	G	T37782127A	CYBB	NM_000397.3(CYBB):c.85del:p.Tyr29fs	coding	Pathogenic
X	37782132	CCG	GGT	C37782132G	CYBB	NM_000397.3(CYBB):c.90_92delinsGGT:p.Tyr30_Arg31delinsTer	coding	Pathogenic
X	37782180	TG	T	G37782184T	CYBB	NM_000397.4(CYBB):c.141+1del	coding	Pathogenic
X	37783557	C	CA	G37783559A	CYBB	NM_000397.3(CYBB):c.210dup:p.Val71fs	coding	Pathogenic
X	37793712	GC	G	C37793715G	CYBB	NM_000397.3(CYBB):c.388del:p.Arg130fs	coding	Pathogenic
X	37793769	CA	C	A37793773T	CYBB	NM_000397.4(CYBB):c.446del:p.Asn149fs	coding	Pathogenic
X	37796027	TATTA	T	A37796032T	CYBB	NM_000397.3(CYBB):c.565_568delATTA	coding	Pathogenic
X	37796065	T	TCTTA	T37796073A	CYBB	NM_000397.3(CYBB):c.602_605dup:p.Phe202fs	coding	Pathogenic
X	37796107	ATCT	A	T37796113A	CYBB	NM_000397.4(CYBB):c.643TTC[1]:p.Phe216del	coding	Pathogenic
X	37796138	CTGAG	C	A37796145T	CYBB	NM_000397.4(CYBB):c.674+4_674+7del	coding	Pathogenic
X	37798971	CAG	C	G37798973C	CYBB	NM_000397.4(CYBB):c.693_694del:p.Gln231fs	coding	Pathogenic
X	37799016	C	CA	T37799023A	CYBB	NM_000397.3(CYBB):c.742dup:p.Ile248fs	coding	Pathogenic
X	37801312	GT	G	T37801316G	CYBB	NM_000397.4(CYBB):c.865del:p.Trp289fs	coding	Pathogenic
X	37803880	GTCAC	G	T37803885C	CYBB	NM_000397.4(CYBB):c.902_905TCAC[1]:p.His303fs	coding	Pathogenic
X	37803937	GA	G	A37803939G	CYBB	NM_000397.3(CYBB):c.960del:p.Val321fs	coding	Pathogenic
X	37805096	AC	A	C37805099T	CYBB	NM_000397.4(CYBB):c.1245del:p.Phe416fs	coding	Pathogenic
X	37805162	C	CA	G37805168A	CYBB	NM_000397.4(CYBB):c.1313dup:p.Ile439fs	coding	Pathogenic
X	37806485	CG	C	G37806487C	CYBB	NM_000397.4(CYBB):c.1415del:p.Gly472fs	coding	Pathogenic
X	37809509	T	TTGTATGTGCTTTTACAGAATGTCTCTTTTTTTTCTGAATTCATGTCCTTTCCTGTAGGCCAATCACTTTGCTGTGCACCATGATGAGGAGAAAGATGTGATCACAGGCCTGAAACAAAAGACTTTGTATGGACGGCCCAACTGGGATAATGAATTCAAGACAATTGCAAGTCAACACCCTAAGTAAGGAGTCTGTCACCAAGATGTTTTTGAGGCTTGCATCTGCCTAAAGCGGCAGCCCCTATACATA	C37809760G	CYBB	NM_000397.3(CYBB):c.1462-56_1586+68dup249	noncoding	Pathogenic
X	37809570	AAT	A	A37809571C	CYBB	NM_000397.3(CYBB):c.1466_1467del:p.Asn489fs	coding	Pathogenic
X	37809676	CA	C	A37809678G	CYBB	NM_000397.3(CYBB):c.1573del:p.Ser525fs	coding	Pathogenic
X	37810865	C	CT	G37810867T	CYBB	NM_000397.3(CYBB):c.1662dup:p.Glu555Ter	coding	Pathogenic
X	37991159	TTG	T	T37991160A	H2AP	NM_012274.2(H2AP):c.321_322del:p.Phe107fs	coding	Pathogenic
X	38268981	GA	G	A38268983G	RPGR	NM_000328.2(RPGR):c.*644del	noncoding	Pathogenic
X	38269646	TTG	T	T38269647A	RPGR	NM_000328.3(RPGR):c.2426_2427del:p.Arg808_Ser809insTer	coding	Pathogenic
X	38269667	TTG	T	T38269668G	RPGR	NM_000328.3(RPGR):c.2405_2406del:p.Pro802fs	coding	Pathogenic
X	38285681	C	CT	G38285689T	RPGR	NM_000328.3(RPGR):c.1905+1406dup	coding	Pathogenic
X	38285819	TTC	T	C38285823G	RPGR	NM_000328.3(RPGR):c.1905+1273_1905+1274del	coding	Pathogenic/Likely_pathogenic
X	38285823	CT	C	T38285824G	RPGR	NM_000328.3(RPGR):c.1905+1270del	coding	Pathogenic
X	38285893	CCT	C	T38285897C	RPGR	NM_000328.3(RPGR):c.1905+1199_1905+1200del	coding	Pathogenic/Likely_pathogenic
X	38285901	TCC	T	C38285905T	RPGR	NM_000328.3(RPGR):c.1905+1191_1905+1192del	coding	Pathogenic
X	38285905	CCT	C	T38285909C	RPGR	NM_000328.3(RPGR):c.1905+1187_1905+1188del	coding	Pathogenic
X	38285906	CT	C	T38285907C	RPGR	NM_000328.3(RPGR):c.1905+1187del	coding	Pathogenic
X	38285916	TCC	T	C38285919T	RPGR	NM_000328.3(RPGR):c.1905+1176_1905+1177del	coding	Pathogenic
X	38285918	CCCTT	C	T38285921A	RPGR	NM_000328.3(RPGR):c.1905+1172_1905+1175del	coding	Pathogenic
X	38285927	CTCCCCTTCCACT	C	A38285937T	RPGR	NM_000328.3(RPGR):c.1905+1155_1905+1166del	coding	Benign
X	38285942	CCCTTCCTCTTCTTCCTCCCCTTCTCCCTCCCCTTCTTCCTCTCCCTCTCCTTCTTCCTCCCCTTCTTCTTCCCCTTCCTCCTCTTCCCCCTCCCCTTCTCCTTCCTCCTCTTCCCCCTCCCCTTCTCCTTCCTCCCCTTCCCCTTCTCCTTCCTCTTCCCCCTCCCCTTCTCCTTCCTCCTCTTCCCCCTCCCATTCTCCTTCCTCCTCTTCCCCCTCCCCTTCTCCATCCTCCCCTTCCCCTTCTCCTTCCTCCTCTTCCCCCTCCCCTTCTCCTTCCTCTCCTTCCTCCTCCCCTTTCCCTTCTCCTTCCTCCTCTTCTCCCTCCCCTTCTCCTTCCTCTTCTCCCTCCCCTTCTCCTTCCTCCTCTTCTCCCTCCCCTTCTCCTTCCTCTTCTCCCTCCCCTTCTCCTTCCTCCTCTTCCCCCTCCCCTTCT	C	T38285951C	RPGR	NM_000328.3(RPGR):c.1905+717_1905+1151del	coding	Pathogenic
X	38285958	TCC	T	C38285961T	RPGR	NM_000328.3(RPGR):c.1905+1134_1905+1135del	coding	Pathogenic
X	38285970	TCC	T	C38285973T	RPGR	NM_000328.3(RPGR):c.1905+1122_1905+1123del	coding	Pathogenic
X	38286002	CCCTT	C	C38286004T	RPGR	NM_000328.3(RPGR):c.1905+1088_1905+1091del	coding	Pathogenic
X	38286032	CT	C	T38286033C	RPGR	NM_000328.3(RPGR):c.1905+1061del	coding	Pathogenic
X	38286033	TCC	T	C38286036T	RPGR	NM_000328.3(RPGR):c.1905+1059_1905+1060del	coding	Pathogenic
X	38286034	CCCCTTCTCCTTCCTCCTCTT	C	T38286038C	RPGR	NM_000328.3(RPGR):c.1905+1040_1905+1059del	coding	Pathogenic
X	38286047	CTCCTCT	C	T38286051C	RPGR	NM_000328.3(RPGR):c.1905+1041_1905+1046del	coding	Benign
X	38286081	TCC	T	C38286084T	RPGR	NM_000328.3(RPGR):c.1905+1011_1905+1012del	coding	Pathogenic
X	38286099	T	TC	T38286105C	RPGR	NM_000328.3(RPGR):c.1905+990dup	coding	Pathogenic/Likely_pathogenic
X	38286105	TCC	T	C38286108T	RPGR	NM_000328.3(RPGR):c.1905+987_1905+988del	coding	Pathogenic
X	38286111	TC	T	C38286112T	RPGR	NM_000328.3(RPGR):c.1905+982del	coding	Pathogenic/Likely_pathogenic
X	38286131	CT	C	T38286132C	RPGR	NM_000328.3(RPGR):c.1905+962del	coding	Pathogenic
X	38286151	CT	AG	C38286151A	RPGR	NM_000328.3(RPGR):c.1905+942_1905+943inv	coding	Pathogenic
X	38286153	TC	T	C38286158T	RPGR	NM_000328.3(RPGR):c.1905+940del	coding	Pathogenic
X	38286159	TCC	T	C38286162T	RPGR	NM_000328.3(RPGR):c.1905+933_1905+934del	coding	Pathogenic
X	38286201	TC	T	C38286206T	RPGR	NM_000328.3(RPGR):c.1905+892del	coding	Pathogenic
X	38286207	TCC	T	C38286210T	RPGR	NM_000328.3(RPGR):c.1905+885_1905+886del	coding	Pathogenic
X	38286220	CCT	C	T38286224C	RPGR	NM_000328.3(RPGR):c.1905+872_1905+873del	coding	Pathogenic
X	38286225	C	CCT	T38286228C	RPGR	NM_000328.3(RPGR):c.1905+867_1905+868dup	coding	Pathogenic
X	38286234	TCC	T	C38286237T	RPGR	NM_000328.3(RPGR):c.1905+858_1905+859del	coding	Pathogenic
X	38286263	TC	T	C38286266T	RPGR	NM_000328.3(RPGR):c.1905+830del	coding	Pathogenic
X	38286283	CTT	C	T38286284C	RPGR	NM_000328.3(RPGR):c.1905+809_1905+810del	coding	Pathogenic
X	38286329	TTCC	T	C38286332T	RPGR	NM_000328.3(RPGR):c.1905+762_1905+764del	coding	Benign
X	38286342	TCC	T	C38286345T	RPGR	NM_000328.3(RPGR):c.1905+750_1905+751del	coding	Pathogenic
X	38286369	TCC	T	C38286372T	RPGR	NM_000328.3(RPGR):c.1905+723_1905+724del	coding	Pathogenic
X	38286378	CCTTCCTCCCCTTCTT	C	T38286380C	RPGR	NM_000328.3(RPGR):c.1905+701_1905+715del	coding	Benign
X	38286396	TCC	T	C38286399T	RPGR	NM_000328.3(RPGR):c.1905+696_1905+697del	coding	Pathogenic
X	38286426	CCT	C	C38286427T	RPGR	NM_000328.3(RPGR):c.1905+666_1905+667del	coding	Pathogenic
X	38286430	T	TC	T38286434C	RPGR	NM_000328.3(RPGR):c.1905+661dup	coding	Pathogenic
X	38286437	TCCTTCCTCCTCTTCCCCCTCC	T	C38286479A	RPGR	NM_000328.3(RPGR):c.1905+636_1905+656del	coding	Benign
X	38286450	TC	T	C38286455T	RPGR	NM_000328.3(RPGR):c.1905+643del	coding	Pathogenic
X	38286455	CT	C	T38286456C	RPGR	NM_000328.3(RPGR):c.1905+638del	coding	Pathogenic
X	38286471	T	TC	T38286477C	RPGR	NM_000328.3(RPGR):c.1905+618dup	coding	Pathogenic
X	38286476	CT	C	T38286477C	RPGR	NM_000328.3(RPGR):c.1905+617del	coding	Pathogenic
X	38286478	CCCCTT	C	C38286481T	RPGR	NM_000328.3(RPGR):c.1905+611_1905+615del	coding	Pathogenic
X	38286480	CCT	C	C38286481T	RPGR	NM_000328.3(RPGR):c.1905+612_1905+613del	coding	Pathogenic
X	38286492	TCC	T	C38286496T	RPGR	NM_000328.3(RPGR):c.1905+600_1905+601del	coding	Pathogenic
X	38286497	CT	C	T38286498C	RPGR	NM_000328.3(RPGR):c.1905+596del	coding	Pathogenic
X	38286521	CCT	C	T38286527C	RPGR	NM_000328.3(RPGR):c.1905+567AG[2]	coding	Pathogenic
X	38286551	TC	T	C38286554T	RPGR	NM_000328.3(RPGR):c.1905+542del	coding	Pathogenic/Likely_pathogenic
X	38286553	CCTCT	C	C38286554A	RPGR	NM_000328.3(RPGR):c.1905+537_1905+540del	coding	Pathogenic
X	38286571	CCT	C	C38286574T	RPGR	NM_000328.3(RPGR):c.1905+521_1905+522del	coding	Pathogenic
X	38286585	CCT	C	T38286589C	RPGR	NM_000328.3(RPGR):c.1905+507_1905+508del	coding	Pathogenic
X	38286592	CCT	C	C38286595G	RPGR	NM_000328.3(RPGR):c.1905+500_1905+501del	coding	Pathogenic/Likely_pathogenic
X	38286592	CCTCT	C	C38286593G	RPGR	NM_000328.3(RPGR):c.1905+498_1905+501del	coding	Pathogenic
X	38286614	CT	C	T38286615C	RPGR	NM_000328.3(RPGR):c.1905+479del	coding	Pathogenic/Likely_pathogenic
X	38286650	CTTCCCCGCTCTTTCCTCCTTTTTCCTCT	C	T38286651C	RPGR	NM_000328.3(RPGR):c.1905+416_1905+443del	coding	Pathogenic
X	38286652	TC	T	C38286656G	RPGR	NM_000328.3(RPGR):c.1905+441del	coding	Pathogenic/Likely_pathogenic
X	38286657	GCT	G	C38286660T	RPGR	NM_000328.3(RPGR):c.1905+435_1905+436del	coding	Pathogenic
X	38286658	CT	C	T38286659C	RPGR	NM_000328.3(RPGR):c.1905+435del	coding	Pathogenic
X	38286674	CCT	C	T38286680C	RPGR	NM_000328.3(RPGR):c.1905+414AG[2]	coding	Pathogenic
X	38286699	TCTCC	T	C38286704A	RPGR	NM_000328.3(RPGR):c.1905+391_1905+394del	coding	Pathogenic
X	38286714	TCC	T	C38286717T	RPGR	NM_000328.3(RPGR):c.1905+378_1905+379del	coding	Pathogenic
X	38286738	TCTCC	T	C38286743T	RPGR	NM_000328.3(RPGR):c.1905+352_1905+355del	coding	Pathogenic
X	38286743	CTCCT	C	C38286746T	RPGR	NM_000328.3(RPGR):c.1905+347_1905+350del	coding	Pathogenic
X	38286745	CCTTCT	C	C38286751T	RPGR	NM_000328.3(RPGR):c.1905+344_1905+348del	coding	Pathogenic
X	38286761	TTC	T	C38286765G	RPGR	NM_000328.3(RPGR):c.1905+331_1905+332del	coding	Pathogenic
X	38286774	TCCTC	T	C38286775T	RPGR	NM_000328.3(RPGR):c.1905+316_1905+319del	coding	Pathogenic
X	38286831	CT	C	T38286834C	RPGR	NM_000328.3(RPGR):c.1905+262del	coding	Pathogenic
X	38286939	T	TC	A38286942C	RPGR	NM_000328.3(RPGR):c.1905+153dup	coding	Pathogenic
X	38286942	ATTTCTCCTCTACCCTTGTC	A	T38286950C	RPGR	NM_000328.3(RPGR):c.1905+133_1905+151del	coding	Pathogenic/Likely_pathogenic
X	38287032	T	TC	T38287037C	RPGR	NM_000328.3(RPGR):c.1905+58dup	coding	Pathogenic
X	38287072	A	AT	G38287077T	RPGR	NM_000328.3(RPGR):c.1905+18dup	coding	Pathogenic
X	38287125	ATC	A	C38287129G	RPGR	NM_000328.3(RPGR):c.1870_1871GA[1]:p.Glu624fs	coding	Pathogenic
X	38287162	CA	C	A38287163T	RPGR	NM_000328.3(RPGR):c.1836del:p.Asn612fs	coding	Pathogenic
X	38287249	ACAAGCGATCAC	A	C38287250A	RPGR	NM_000328.3(RPGR):c.1754-15_1754-5del	noncoding	Pathogenic
X	38287927	CAT	C	A38287928G	RPGR	NM_000328.3(RPGR):c.1685_1686del:p.His562fs	coding	Pathogenic
X	38287942	CT	C	T38287945C	RPGR	NM_000328.3(RPGR):c.1671del:p.Ala558fs	coding	Pathogenic
X	38288032	TTTG	T	G38288038T	RPGR	NM_000328.3(RPGR):c.1576_1578CAA[1]:p.Gln527del	coding	Benign
X	38297319	AAG	A	G38297321C	RPGR	NM_000328.3(RPGR):c.1377_1378del:p.Leu460fs	coding	Pathogenic
X	38297321	GAC	G	A38297324T	RPGR	NM_000328.3(RPGR):c.1375_1376del:p.Val459fs	coding	Pathogenic
X	38297324	ACT	A	C38297329T	RPGR	NM_000328.3(RPGR):c.1368_1369AG[2]:p.Ser458fs	coding	Pathogenic
X	38297415	AGT	A	G38297418T	RPGR	NM_000328.3(RPGR):c.1281_1282del:p.Leu428fs	coding	Pathogenic
X	38298956	CCT	C	C38298963T	RPGR	NM_000328.3(RPGR):c.1237_1238AG[3]:p.Arg415fs	coding	Pathogenic
X	38298983	TAG	T	A38298986T	RPGR	NM_000328.3(RPGR):c.1216_1217del:p.Leu406fs	coding	Pathogenic
X	38298983	T	TA	G38298985A	RPGR	NM_000328.3(RPGR):c.1217dup:p.Ser407fs	coding	Pathogenic
X	38299013	T	TA	C38299017A	RPGR	NM_000328.3(RPGR):c.1187dup:p.Leu396fs	coding	Pathogenic
X	38299108	C	CA	C38299114A	RPGR	NM_000328.3(RPGR):c.1092dup:p.Ala365fs	coding	Pathogenic
X	38301247	CAATTT	C	T38301250C	RPGR	NM_000328.3(RPGR):c.1054_1058del:p.Lys352fs	coding	Pathogenic
X	38301322	TC	T	C38301324T	RPGR	NM_000328.3(RPGR):c.983del:p.Gly328fs	coding	Pathogenic
X	38301348	CA	C	A38301352G	RPGR	NM_000328.3(RPGR):c.957del:p.Phe319fs	coding	Pathogenic
X	38304649	GT	G	T38304650G	RPGR	NM_000328.3(RPGR):c.919del:p.Thr307fs	coding	Pathogenic
X	38304671	T	TA	T38304673A	RPGR	NM_000328.3(RPGR):c.897dup:p.Ile300fs	coding	Pathogenic
X	38310686	TG	T	G38310690T	RPGR	NM_000328.3(RPGR):c.706del:p.Gln236fs	coding	Pathogenic
X	38310737	TTCTCAGGTTCTCCA	G	T38310737G	RPGR	NM_000328.3(RPGR):c.642_656delinsC:p.Gly215fs	coding	Pathogenic/Likely_pathogenic
X	38317346	AAGAGATCCAGG	A	G38317350C	RPGR	NM_000328.3(RPGR):c.578_588del:p.Ser193fs	coding	Pathogenic
X	38317448	TAA	T	A38317452G	RPGR	NM_000328.3(RPGR):c.485_486del:p.Phe162fs	coding	Pathogenic
X	38317448	TA	T	A38317453G	RPGR	NM_000328.3(RPGR):c.486del:p.Phe162fs	coding	Pathogenic
X	38318874	TC	T	C38318875T	RPGR	NM_000328.3(RPGR):c.423del:p.Ile142fs	coding	Pathogenic
X	38318907	GAA	G	A38318910G	RPGR	NM_000328.3(RPGR):c.389_390del:p.Phe130fs	coding	Pathogenic
X	38318918	CT	C	T38318921C	RPGR	NM_000328.3(RPGR):c.379del:p.Arg127fs	coding	Pathogenic
X	38318925	CG	C	G38318927T	RPGR	NM_000328.3(RPGR):c.372del:p.Glu125fs	coding	Pathogenic
X	38321081	GT	G	T38321085A	RPGR	NM_000328.3(RPGR):c.255del:p.Lys85fs	coding	Pathogenic/Likely_pathogenic
X	38322880	CT	C	T38322881G	RPGR	NM_000328.3(RPGR):c.219del:p.Ala74fs	coding	Pathogenic
X	38322916	T	TA	C38322918A	RPGR	NM_000328.3(RPGR):c.183dup:p.Asn62Ter	coding	Pathogenic
X	38323451	AT	A	T38323456A	RPGR	NM_000328.3(RPGR):c.101del:p.Asn34fs	coding	Pathogenic
X	38352722	TAAAC	T	A38352725T	OTC	NM_000531.6(OTC):c.29_32del:p.Asn10fs	coding	Pathogenic
X	38352734	CT	C	T38352738A	OTC	NM_000531.6(OTC):c.42del:p.Phe14fs	coding	Pathogenic
X	38352748	CA	C	A38352749C	OTC	NM_000531.6(OTC):c.53del:p.His18fs	coding	Pathogenic
X	38352766	AATTTTCGGTAAGTGATGGTCAGAG	A	T38352768C	OTC	NM_000531.6(OTC):c.72_77+18del	coding	Pathogenic
X	38352773	GGTAA	G	A38352776G	OTC	NM_000531.6(OTC):c.77+3_77+6del	coding	Pathogenic
X	38367347	TA	T	A38367353C	OTC	NM_000531.6(OTC):c.140del:p.Asn47fs	coding	Pathogenic
X	38367389	T	TA	T38367391A	OTC	NM_000531.6(OTC):c.177dup:p.Ser60fs	coding	Pathogenic
X	38367428	AG	A	G38367430T	OTC	NM_000531.6(OTC):c.216+1del	coding	Pathogenic
X	38369793	T	TA	G38369795A	OTC	NM_000531.6(OTC):c.217-2dup	noncoding	Pathogenic
X	38369821	CCTT	C	C38369822A	OTC	NM_000531.6(OTC):c.243_245del:p.Leu82del	coding	Pathogenic
X	38369849	TA	T	A38369850C	OTC	NM_000531.6(OTC):c.271del:p.Thr91fs	coding	Pathogenic
X	38369875	CAGGTA	C	G38369878T	OTC	NM_000531.6(OTC):c.298+1_298+5del	coding	Pathogenic
X	38369876	AG	A	G38369878T	OTC	NM_000531.6(OTC):c.298+1del	coding	Pathogenic
X	38381324	CT	C	T38381334A	OTC	NM_000531.6(OTC):c.299-8del	noncoding	Benign
X	38381369	GT	G	T38381373C	OTC	NM_000531.6(OTC):c.330del:p.Thr112fs	coding	Pathogenic
X	38381398	GGT	G	T38381402A	OTC	NM_000531.6(OTC):c.357_358TG[1]:p.Val120fs	coding	Pathogenic
X	38381417	CG	C	G38381419A	OTC	NM_000531.6(OTC):c.376del:p.Asp126fs	coding	Pathogenic
X	38401276	G	GTAT	G38401281A	OTC	NM_000531.6(OTC):c.390_392dup:p.Leu131dup	coding	Pathogenic
X	38401276	G	GTATTGTC	G38401286T	OTC	NM_000531.6(OTC):c.391_397dup:p.Ser133delinsIleValTer	coding	Pathogenic
X	38401289	TG	T	G38401291C	OTC	NM_000531.6(OTC):c.403del:p.Ala135fs	coding	Pathogenic
X	38401336	AC	A	C38401339T	OTC	NM_000531.6(OTC):c.451del:p.Leu151fs	coding	Pathogenic
X	38401416	CCTCACG	C	A38401420C	OTC	NM_000531.6(OTC):c.532_537del:p.Thr178_Leu179del	coding	Pathogenic
X	38403638	AGG	A	G38403639T	OTC	NM_000531.6(OTC):c.562_563del:p.Gly188fs	coding	Pathogenic
X	38403644	T	TA	C38403646A	OTC	NM_000531.6(OTC):c.568dup:p.Thr190fs	coding	Pathogenic
X	38403659	CG	C	G38403663A	OTC	NM_000531.6(OTC):c.586del:p.Asp196fs	coding	Pathogenic
X	38403720	C	CT	C38403723T	OTC	NM_000531.6(OTC):c.645dup:p.Gln216fs	coding	Pathogenic
X	38408740	AG	A	G38408743T	OTC	NM_000531.5(OTC):c.664-1delG	noncoding	Pathogenic
X	38408799	TGCTCTTTACATGTAAA	T	C38408803A	OTC	NM_000531.6(OTC):c.717+8_717+23del	noncoding	Pathogenic
X	38408870	TGCTAGAATGGTACCAA	T	A38408874G	OTC	NM_000531.6(OTC):c.718-2_731del	noncoding	Pathogenic
X	38408888	CTGTTGCTGA	C	T38408889C	OTC	NM_000531.6(OTC):c.731_739del:p.Leu244_Thr247delinsPro	coding	Pathogenic
X	38408905	T	TC	A38408908C	OTC	NM_000531.6(OTC):c.749dup:p.Leu251fs	coding	Pathogenic
X	38408916	CA	C	A38408917G	OTC	NM_000531.6(OTC):c.759del:p.Ala254fs	coding	Pathogenic
X	38408938	AA	G	A38408938G	OTC	NM_000531.6(OTC):c.780_781delinsG:p.Ile261fs	coding	Pathogenic
X	38408975	GA	G	A38408976G	OTC	NM_000531.6(OTC):c.818del:p.Glu273fs	coding	Pathogenic
X	38411867	TA	T	A38411870G	OTC	NM_000531.6(OTC):c.876del:p.Val293fs	coding	Pathogenic
X	38411875	CT	C	T38411876G	OTC	NM_000531.6(OTC):c.882del:p.Ala295fs	coding	Pathogenic
X	38411880	TCTGA	T	A38411884G	OTC	NM_000531.6(OTC):c.890_893del:p.Asp297fs	coding	Pathogenic
X	38411885	CTG	C	T38411886G	OTC	NM_000531.6(OTC):c.892_893del:p.Trp298fs	coding	Pathogenic
X	38411899	AC	A	C38411900T	OTC	NM_000531.6(OTC):c.906del:p.Cys303fs	coding	Pathogenic
X	38411933	TGAA	T	A38411935T	OTC	NM_000531.6(OTC):c.941_943del:p.Glu314del	coding	Pathogenic
X	38421067	GA	G	A38421069G	OTC	NM_000531.6(OTC):c.1052del:p.Lys351fs	coding	Pathogenic
X	38561512	TGCC	T	C38561532G	TSPAN7	NM_004615.3(TSPAN7):c.-15_-13delCCG	noncoding	Benign
X	40053064	TAAGTCTGTATCCCCATTTCTTTGATCTCTTCTCTCCTCAGACCCTCACTAACAGCATTATAAACACACAAGGCTGTCTCTCCATTCAGGCATGTCCACTCCCATCCTTCCATTCTTTTGGGAGTGACACTTTTGAGAAGGAAGGTGTTACATTCCTTGCATACAACCTACCATACTTTATGATTTCCATCACTGTTTGTAATGGCATATATGTTTATAGCTTCAGGGCTGAGGAGGATGTTACTCATCAAGCAGCTCTGTCAACACACAGCAGAGCAGTCTCTTGACAAGTACACCCAAGATGATTGGTCACTGGCGAATAGGGGCTCAACCATAGGGGGCAGAGGGGATTAACTAAATCTGATGACACACCAATATCCTAAGTGTCATGTACAATGATTGTCCTAACCTTACACAAGGTGGTTTATCAGTGTAGTCCGTACATCTCAAAACATCCTACAGTGGTCTGTTGCAGGCAGTCCTAGGGAGGACACCTTCTCAAAGTGTTTAAGGATTTAAGTATCCAAGGTGCTGACCCTTCCATAAAGTTCCAGTCACCCACTTCTCTGGGGAGTGACTTAAGCCTTGGTGTTAGTGATGAGGGCAGGTTTATACCATGCTGTGCCCCACCCCCCACCACACTGGGTGTAAGGAAGCTGATGTGTACCCTTTCTGGAAAATATCTACTGCATTGTGTGAGGTTCGTGGACAGTTAAGGAGGTCACTCACCCACCCACCCTCATCTGCTCAAAGCGCATTTCTAACTCCTGTCACCTCAAGAGCAGCTCAGCTAGTTTTCAATCACATGACAGCCATGCTCACCCCTGAGCCACAGATACTTGGATGTTATAACACGGTAAGAGGGGGGTCTCTGAAAATTCAAATTCAAACACATCGCTATAGGCATCGTCATCATCATCCTGGTCTTCTGGTCCTGGGGGGTTGGCTAAAACATCATAGCCACTTTCATCATCTGGTTCTAATGGAGGGCAAATAAGAGAGGAAGGAATCAGTAAACTACAGCAAGATGTCCACAGTTGTCAACAACAACAAGGAGTTTAAATAACAAGATTCTTTCCCAAGTGAGTCCTGCTTCCAGTGCCCACCATCCACTTTCCCTCACCCATACCAGACAGAAATGGACTTGAACTTGTTCACCTCCTACGGAACTAGAGCAAACAATGCAGCTTACCACAAACAGAGCTGCCATAGAAGTCCCAAGTGCCACTGGCGTCATCATCATTGCGACCCTGGAGGTCATTTAAATAATCTGGAGGGAGAGAAAAATAAAAAAACAAGATAAAATCTACTGCTGAGAACAAAATGATGGCAGAGCCACGTGGCATTTTTTCCTATACATTCATGACAGGCTGGAAGGTCATTTCCTGTCTTCCTCTTTCTCAGCAAAATA	T	C40053069A	BCOR	NM_001123385.2(BCOR):c.4742-141_4977-665del	noncoding	Pathogenic
X	40053925	A	AG	T40053932G	BCOR	NM_001123385.2(BCOR):c.4936dup:p.Leu1646fs	coding	Pathogenic
X	40053999	T	TG	T40054006G	BCOR	NM_001123385.2(BCOR):c.4862dup:p.Gly1622fs	coding	Pathogenic
X	40055397	TG	T	G40055400T	BCOR	NM_001123385.2(BCOR):c.4711del:p.His1571fs	coding	Pathogenic
X	40062173	GTCTC	G	T40062174G	BCOR	NM_001123385.2(BCOR):c.4390_4393del:p.Glu1464fs	coding	Pathogenic
X	40062258	AGCATG	A	T40062262G	BCOR	NM_001123385.2(BCOR):c.4304_4308del:p.Pro1435fs	coding	Pathogenic
X	40062935	CT	C	T40062936G	BCOR	NM_001123385.2(BCOR):c.3983del:p.Gln1328fs	coding	Pathogenic
X	40063034	ACT	A	C40063037T	BCOR	NM_001123385.2(BCOR):c.3881_3882AG[1]:p.Leu1296fs	coding	Pathogenic
X	40064369	GA	G	A40064370G	BCOR	NM_001123385.2(BCOR):c.3468del:p.Leu1157fs	coding	Pathogenic
X	40064370	AG	A	G40064373T	BCOR	NM_001123385.2(BCOR):c.3467del:p.Pro1156fs	coding	Pathogenic
X	40064374	TC	T	C40064376T	BCOR	NM_001123385.2(BCOR):c.3463del:p.Asp1155fs	coding	Pathogenic
X	40064426	CTT	C	T40064428G	BCOR	NM_001123385.2(BCOR):c.3410_3411del:p.Lys1137fs	coding	Pathogenic
X	40064449	A	AG	T40064453G	BCOR	NM_001123385.2(BCOR):c.3388dup:p.Leu1130fs	coding	Pathogenic
X	40064551	TC	T	C40064552T	BCOR	NM_001123385.2(BCOR):c.3286del:p.Glu1096fs	coding	Pathogenic
X	40064567	G	GATCA	C40064572A	BCOR	NM_001123385.2(BCOR):c.3267_3270dup:p.Pro1091Ter	coding	Pathogenic
X	40064569	TC	T	C40064570A	BCOR	NM_001123385.2(BCOR):c.3268del:p.Asp1090fs	coding	Pathogenic
X	40064593	T	TA	C40064595A	BCOR	NM_001123385.2(BCOR):c.3244dup:p.Tyr1082fs	coding	Pathogenic
X	40071102	C	CT	G40071104T	BCOR	NM_001123385.2(BCOR):c.3108dup:p.Ala1037fs	coding	Pathogenic
X	40072486	CTT	C	T40072488G	BCOR	NM_001123385.2(BCOR):c.2858_2859del:p.Lys953fs	coding	Pathogenic
X	40072732	TG	T	G40072733A	BCOR	NM_001123385.2(BCOR):c.2613del:p.Phe871fs	coding	Pathogenic
X	40072831	TG	T	G40072837C	BCOR	NM_001123385.2(BCOR):c.2514del:p.Lys839fs	coding	Pathogenic
X	40072856	ACT	A	C40072861G	BCOR	NM_001123385.2(BCOR):c.2484_2485AG[2]:p.Ser830fs	coding	Pathogenic
X	40072922	AA	GT	A40072922G	BCOR	NM_001123385.2(BCOR):c.2423_2424delinsAC:p.Leu808His	coding	Benign
X	40074206	GCTAA	G	A40074209G	BCOR	NM_001123385.2(BCOR):c.1136_1139del:p.Val379fs	coding	Pathogenic
X	40074321	CG	C	G40074325T	BCOR	NM_001123385.2(BCOR):c.1024del:p.Arg342fs	coding	Pathogenic
X	40074363	TC	T	C40074368G	BCOR	NM_001123385.2(BCOR):c.982del:p.Asp328fs	coding	Pathogenic
X	40074555	G	GGTGAT	C40074562T	BCOR	NM_001123385.2(BCOR):c.786_790dup:p.Pro264fs	coding	Pathogenic
X	40074667	A	AG	A40074670G	BCOR	NM_001123385.2(BCOR):c.678dup:p.Tyr227fs	coding	Pathogenic
X	40074818	CTGTT	C	T40074822C	BCOR	NM_001123385.2(BCOR):c.524_527del:p.Lys175fs	coding	Pathogenic
X	40588704	T	TTTTG	C40588716G	ATP6AP2	NM_005765.3(ATP6AP2):c.38-281TTTG[3]	noncoding	Benign
X	40597237	CTT	C	T40597238A	ATP6AP2	NM_005765.3(ATP6AP2):c.301-11_301-10del	noncoding	Pathogenic
X	41123670	CA	C	A41123672C	USP9X	NM_001039591.3(USP9X):c.44del:p.Asn15fs	coding	Pathogenic
X	41131472	TC	T	C41131474A	USP9X	NM_001039591.3(USP9X):c.260del:p.Pro87fs	coding	Pathogenic
X	41141175	CTG	C	G41141177T	USP9X	NM_001039591.3(USP9X):c.982_983del:p.Thr327_Val328insTer	coding	Pathogenic
X	41166031	TA	T	A41166033T	USP9X	NM_001039591.3(USP9X):c.2147del:p.Asn716fs	coding	Pathogenic
X	41170002	C	CA	G41170003A	USP9X	NM_001039591.3(USP9X):c.2644_2645insA:p.Arg882fs	coding	Pathogenic
X	41183983	C	CT	C41183991T	USP9X	NM_001039591.3(USP9X):c.3149-8dup	noncoding	Benign
X	41196621	AG	A	G41196623C	USP9X	NM_001039591.3(USP9X):c.4118del:p.Gly1373fs	coding	Pathogenic
X	41197419	A	AC	T41197422C	USP9X	NM_001039591.3(USP9X):c.4291dup:p.Leu1431fs	coding	Pathogenic
X	41201211	TC	T	C41201212T	USP9X	NM_001039591.3(USP9X):c.4756del:p.Ala1587fs	coding	Pathogenic
X	41216171	G	GCT	G41216175T	USP9X	NM_001039591.3(USP9X):c.5606_5607dup:p.Val1870fs	coding	Pathogenic
X	41216195	T	TG	C41216202G	USP9X	NM_001039591.3(USP9X):c.5634dup:p.His1879fs	coding	Pathogenic
X	41218525	CTT	C	T41218527A	USP9X	NM_001039591.3(USP9X):c.6365_6366del:p.Phe2122fs	coding	Pathogenic
X	41219123	A	AG	T41219125G	USP9X	NM_001039591.3(USP9X):c.6458dup:p.Ser2153fs	coding	Pathogenic
X	41223261	AC	A	C41223262T	USP9X	NM_001039591.3(USP9X):c.6611del:p.Thr2204fs	coding	Pathogenic
X	41230594	CA	C	A41230595G	USP9X	NM_001039591.3(USP9X):c.7526del:p.Gln2509fs	coding	Pathogenic
X	41337437	TA	T	A41337439T	DDX3X	NM_001356.5(DDX3X):c.77del:p.Asn26fs	coding	Pathogenic
X	41337441	CAG	C	A41337444T	DDX3X	NM_001356.5(DDX3X):c.80_81AG[1]:p.Ser28fs	coding	Pathogenic
X	41337441	C	CA	G41337443A	DDX3X	NM_001363819.1(DDX3X):c.-1824dup	coding	Pathogenic
X	41337456	A	ACAGC	A41337465C	DDX3X	NM_001356.5(DDX3X):c.95_98CAGC[3]:p.Lys35fs	coding	Pathogenic
X	41337456	AC	A	C41337457A	DDX3X	NM_001356.5(DDX3X):c.95del:p.Thr32fs	coding	Pathogenic
X	41339026	A	AT	A41339034T	DDX3X	NM_001193416.3(DDX3X):c.104-3dup	noncoding	Benign
X	41341498	GAC	G	C41341500G	DDX3X	NM_001356.5(DDX3X):c.168_169del:p.Asp56fs	coding	Pathogenic
X	41341521	C	CA	G41341525A	DDX3X	NM_001363819.1(DDX3X):c.-367dup	coding	Pathogenic
X	41341527	T	TA	G41341530A	DDX3X	NM_001356.5(DDX3X):c.197dup:p.Asp67fs	coding	Pathogenic
X	41341573	A	ACTT	A41341574C	DDX3X	NM_001356.4(DDX3X):c.241_242insCTT:p.Lys81delinsThrTer	coding	Pathogenic
X	41341586	TC	T	C41341587A	DDX3X	NM_001363819.1(DDX3X):c.-304del	coding	Pathogenic
X	41341600	A	AG	T41341602G	DDX3X	NM_001356.5(DDX3X):c.269dup:p.Ser90fs	coding	Pathogenic
X	41342580	AAC	A	C41342582G	DDX3X	NM_001363819.1(DDX3X):c.-187_-186del	coding	Pathogenic
X	41342582	C	CA	G41342584A	DDX3X	NM_001356.5(DDX3X):c.373dup:p.Ser125fs	coding	Pathogenic
X	41342606	T	TG	A41342608G	DDX3X	NM_001193416.3(DDX3X):c.397dup:p.Glu133fs	coding	Pathogenic
X	41343260	GC	G	C41343261T	DDX3X	NM_001356.5(DDX3X):c.589del:p.Thr198fs	coding	Pathogenic
X	41343291	CA	C	A41343295G	DDX3X	NM_001356.4(DDX3X):c.623del:p.Lys208fs	coding	Pathogenic
X	41343293	AAAGC	A	A41343295T	DDX3X	NM_001356.5(DDX3X):c.623_626del:p.Lys208fs	coding	Pathogenic
X	41343311	TATC	T	T41343313A	DDX3X	NM_001356.5(DDX3X):c.641_643del:p.Ile214del	coding	Pathogenic
X	41343313	TCA	CC	T41343313C	DDX3X	NM_001356.4(DDX3X):c.641_643delinsCC:p.Ile214fs	coding	Pathogenic
X	41343320	GAA	G	A41343323G	DDX3X	NM_001356.5(DDX3X):c.651_652del:p.Asp219fs	coding	Pathogenic
X	41343805	G	GCGCCT	T41343807G	DDX3X	NM_001356.4(DDX3X):c.749_750insGCCTC:p.Leu251fs	coding	Pathogenic
X	41343806	C	CTT	G41343810T	DDX3X	NM_001356.5(DDX3X):c.751_752dup:p.Leu251fs	coding	Pathogenic
X	41344030	G	GA	T41344035A	DDX3X	NM_001356.4(DDX3X):c.770dup:p.Asn257fs	coding	Pathogenic
X	41344083	A	CT	A41344083C	DDX3X	NM_001356.4(DDX3X):c.819delinsCT:p.Pro274fs	coding	Pathogenic
X	41344129	G	TTC	G41344129T	DDX3X	NM_001356.4(DDX3X):c.864+1delinsTTC	noncoding	Pathogenic
X	41344338	G	GCCACT	G41344347C	DDX3X	NM_001356.5(DDX3X):c.968_972dup:p.Gly325fs	coding	Pathogenic
X	41345222	GTTTGAGCCTCAGATTCGTAGAATAGTCGAACAAGATACTATGCCTCCAAAGGGTGTCCGCCACACTATGATGTTTAGTGCTACTTTTCCTAAGGAAATACAGGTACTGTTTGATGTTGCAAATT	G	T41345225A	DDX3X	NM_001356.5(DDX3X):c.1071_1170+24del	coding	Pathogenic/Likely_pathogenic
X	41345252	A	AC	A41345254C	DDX3X	NM_001356.4(DDX3X):c.1099dup:p.Gln367fs	coding	Pathogenic
X	41345422	TTAGATGA	T	T41345423A	DDX3X	NM_001356.5(DDX3X):c.1190_1196del:p.Leu397fs	coding	Pathogenic
X	41345427	T	TGAATA	T41345433G	DDX3X	NM_001356.5(DDX3X):c.1195_1199dup:p.Tyr400Ter	coding	Pathogenic
X	41345434	ATCT	A	C41345439G	DDX3X	NM_001356.4(DDX3X):c.1203_1205CTT[1]:p.Phe402del	coding	Pathogenic
X	41345441	TG	T	G41345443C	DDX3X	NM_001356.4(DDX3X):c.1210del:p.Ala404fs	coding	Pathogenic
X	41345488	GT	G	T41345489A	DDX3X	NM_001356.4(DDX3X):c.1256del:p.Val419fs	coding	Pathogenic
X	41345506	TCAGA	T	G41345509A	DDX3X	NM_001356.4(DDX3X):c.1276_1279del:p.Asp426fs	coding	Pathogenic
X	41345515	C	CG	T41345518G	DDX3X	NM_001356.4(DDX3X):c.1284dup:p.Ser429fs	coding	Pathogenic
X	41345530	G	GAC	C41345533A	DDX3X	NM_001356.5(DDX3X):c.1298_1299dup:p.Leu434fs	coding	Pathogenic
X	41346232	AG	A	G41346234A	DDX3X	NM_001356.4(DDX3X):c.1321del:p.Asp441fs	coding	Pathogenic
X	41346309	TACGC	T	C41346311T	DDX3X	NM_001356.5(DDX3X):c.1398_1401del:p.Ala467fs	coding	Pathogenic
X	41346349	ATAG	TCTC	A41346349T	DDX3X	NM_001356.5(DDX3X):c.1436_1439delinsTCTC:p.Asp479_Arg480delinsValSer	coding	Pathogenic
X	41346366	C	CA	C41346368A	DDX3X	NM_001356.4(DDX3X):c.1454dup:p.His485fs	coding	Pathogenic
X	41346373	TC	T	C41346375G	DDX3X	NM_001356.4(DDX3X):c.1462del:p.Arg488fs	coding	Pathogenic
X	41346510	A	ATGCT	G41346511T	DDX3X	NM_001356.5(DDX3X):c.1503_1504insTGCT:p.Ala502fs	coding	Pathogenic
X	41346541	CAT	C	A41346542G	DDX3X	NM_001356.5(DDX3X):c.1535_1536del:p.His512fs	coding	Pathogenic
X	41346541	CATGTT	C	G41346544C	DDX3X	NM_001356.5(DDX3X):c.1537_1541del:p.Val513fs	coding	Pathogenic
X	41346605	GACGTGTAGGAA	G	G41346608C	DDX3X	NM_001356.5(DDX3X):c.1601_1611del:p.Arg534fs	coding	Pathogenic
X	41346607	C	CG	T41346609G	DDX3X	NM_001356.4(DDX3X):c.1601dup:p.Val535fs	coding	Pathogenic
X	41346916	ATCT	A	C41346921G	DDX3X	NM_001193416.3(DDX3X):c.1675_1677CTT[1]:p.Leu560del	coding	Pathogenic
X	41346988	GT	G	T41346989A	DDX3X	NM_001356.5(DDX3X):c.1746del:p.Ser583fs	coding	Pathogenic
X	41473490	GC	TT	G41473490T	NYX	NM_022567.2(NYX):c.38-1_38delinsTT	coding	Pathogenic
X	41473528	GGCCTGCGCCCGCGCTTGTCCCGCC	G	C41473538T	NYX	NM_022567.2(NYX):c.85_108del:p.Arg29_Ala36del	coding	Pathogenic
X	41474012	GC	AA	G41474012A	NYX	NM_022567.2(NYX):c.559_560delinsAA:p.Ala187Lys	coding	Pathogenic
X	41474519	CGT	C	G41474522C	NYX	NC_000023.11:g.41474520_41474521GT[1]	coding	Pathogenic
X	41474713	G	GCT	G41474716C	NYX	NM_022567.2(NYX):c.1261_1262dup:p.Ala422fs	coding	Pathogenic
X	41524004	CAA	C	A41524006C	CASK	NM_001367721.1(CASK):c.2549_2550del:p.Phe850fs	coding	Pathogenic
X	41524007	ACT	A	C41524010G	CASK	NM_001367721.1(CASK):c.2544_2545AG[1]:p.Glu849fs	coding	Pathogenic
X	41534752	G	GT	A41534759T	CASK	NM_003688.3(CASK):c.2255dup:p.Asn752fs	coding	Pathogenic
X	41534932	TTAC	T	A41534937T	CASK	NM_001126054.2(CASK):c.2107_2109GTA[1]:p.Val704del	coding	Pathogenic
X	41542725	C	CT	G41542727T	CASK	NM_003688.3(CASK):c.2120dup:p.Tyr708fs	coding	Pathogenic/Likely_pathogenic
X	41553760	A	AT	G41553766T	CASK	NM_003688.3(CASK):c.1997dup:p.Asn666fs	coding	Pathogenic
X	41553776	AG	A	G41553777T	CASK	NM_001367721.1(CASK):c.1981del:p.Leu661fs	coding	Pathogenic
X	41561581	ACT	A	C41561582G	CASK	NM_001367721.1(CASK):c.1644_1645del:p.Val549fs	coding	Pathogenic
X	41561582	CTGTT	C	T41561585G	CASK	NM_001367721.1(CASK):c.1641_1644del:p.Thr548fs	coding	Pathogenic
X	41569671	GC	G	C41569673T	CASK	NM_003688.3(CASK):c.1578del:p.Arg526fs	coding	Pathogenic
X	41569741	GA	G	A41569742T	CASK	NM_003688.3(CASK):c.1508del:p.Ile503fs	coding	Pathogenic
X	41569751	T	TA	T41569762A	CASK	NM_001367721.1(CASK):c.1504-15dup	noncoding	Benign
X	41578448	AGAGGTGGGAG	A	G41578455T	CASK	NM_003688.3(CASK):c.1385_1394del:p.Pro462fs	coding	Pathogenic
X	41589552	CT	C	T41589553G	CASK	NM_003688.3(CASK):c.1195del:p.Arg399fs	coding	Pathogenic
X	41626705	T	TA	C41626710A	CASK	NM_003688.3(CASK):c.916-6dup	noncoding	Benign
X	41636578	C	CTT	A41636582T	CASK	NM_003688.3(CASK):c.913_914dup:p.Gly306fs	coding	Pathogenic
X	41636647	G	GT	A41636649T	CASK	NM_001367721.1(CASK):c.845dup:p.Tyr282Ter	coding	Pathogenic
X	41660489	GATCCAGC	G	C41660493A	CASK	NM_003688.3(CASK):c.774_780del:p.Met258fs	coding	Pathogenic
X	41665419	TCTGGTGCCATAAA	T	C41665420A	CASK	NM_003688.3(CASK):c.553_565del:p.Phe185fs	coding	Pathogenic
X	41665437	GGTGTT	CACCTACGTCATTTATGTAGGA	G41665437C	CASK	NM_003688.3(CASK):c.543_548delinsTCCTACATAAATGACGTAGGTG:p.Thr182_Pro183delinsProThrTer	coding	Pathogenic
X	41665535	AATCCAAATAAAAAGTT	A	A41665536T	CASK	NM_003688.3(CASK):c.533-99_533-84del	noncoding	Benign
X	41671436	A	AC	A41671438C	CASK	NM_003688.3(CASK):c.523dup:p.Val175fs	coding	Pathogenic
X	41671549	GAACA	G	C41671560A	CASK	NM_003688.3(CASK):c.430-31TGTT[2]	noncoding	Benign
X	41745591	CTCCA	C	C41745597A	CASK	NM_001126054.2(CASK):c.281_284TGGA[1]:p.Asp95fs	coding	Pathogenic
X	41787271	TC	T	C41787274G	CASK	NM_003688.3(CASK):c.184del:p.Glu62fs	coding	Pathogenic
X	41853218	GA	G	A41853220G	CASK	NM_003688.3(CASK):c.68del:p.Phe23fs	coding	Pathogenic
X	41922961	CCTCGAACA	C	C41922962G	CASK	NM_001367721.1(CASK):c.20_27del:p.Leu7fs	coding	Pathogenic
X	41922967	A	AC	A41922969C	CASK	NM_003688.3(CASK):c.21dup:p.Phe8fs	coding	Pathogenic
X	43683616	TTTTAA	T	T43683618A	MAOA	NM_000240.3(MAOA):c.168+11_168+15del	noncoding	Benign
X	43731344	C	CT	A43731345T	MAOA	NM_000240.3(MAOA):c.749_750insT:p.Ser251fs	coding	Pathogenic
X	43950004	T	TC	G43950006C	NDP	NM_000266.4(NDP):c.196dup:p.Glu66fs	coding	Pathogenic
X	44873590	T	TGCC	T44873602C	KDM6A	NM_021140.3(KDM6A):c.48_50dup	coding	Benign
X	45061385	C	CTCAT	G45061394T	KDM6A	NM_021140.3(KDM6A):c.1392_1395TCAT[3]:p.Trp467fs	coding	Pathogenic
X	45063436	AG	A	G45063437T	KDM6A	NM_021140.3(KDM6A):c.1543del:p.Val515fs	coding	Pathogenic
X	45063734	GCACT	G	A45063740T	KDM6A	NM_001291415.2(KDM6A):c.2002_2005del:p.Thr668fs	coding	Pathogenic
X	45063799	ACTAT	A	T45063803A	KDM6A	NM_021140.3(KDM6A):c.1909_1912del:p.Ser637fs	coding	Pathogenic
X	45063804	CTAACTCCA	C	T45063805C	KDM6A	NM_001291415.2(KDM6A):c.2067_2074del:p.Asn690fs	coding	Pathogenic
X	45069729	CAG	C	A45069730G	KDM6A	NM_021140.3(KDM6A):c.2075_2076del:p.Gln692fs	coding	Pathogenic
X	45069754	C	CCTCT	A45069760T	KDM6A	NM_021140.3(KDM6A):c.2101_2102TC[4]:p.His702fs	coding	Pathogenic
X	45069804	G	GA	G45069806A	KDM6A	NM_021140.3(KDM6A):c.2150dup:p.Ser718fs	coding	Pathogenic
X	45069978	TCAGA	T	G45069981A	KDM6A	NM_021140.3(KDM6A):c.2326_2329del:p.Asp776fs	coding	Pathogenic
X	45070105	CT	C	T45070107C	KDM6A	NM_001291415.2(KDM6A):c.2608del:p.Ser870fs	coding	Pathogenic
X	45070116	TCA	T	C45070117G	KDM6A	NM_021140.3(KDM6A):c.2462_2463del:p.Ser821fs	coding	Pathogenic
X	45070166	CACAA	C	A45070170G	KDM6A	NM_021140.3(KDM6A):c.2515_2518del:p.Asn839fs	coding	Pathogenic
X	45070300	T	TAC	C45070303A	KDM6A	NM_021140.3(KDM6A):c.2646_2647dup:p.Pro883fs	coding	Pathogenic
X	45076679	CT	C	T45076692C	KDM6A	NM_001291415.1(KDM6A):c.2859-5delT	noncoding	Benign
X	45076679	CTTT	C	T45076690C	KDM6A	NM_021140.3(KDM6A):c.2703-7_2703-5del	noncoding	Benign
X	45076821	A	AT	A45076825T	KDM6A	NM_021140.3(KDM6A):c.2830dup:p.Tyr944fs	coding	Pathogenic
X	45079246	TC	T	C45079249A	KDM6A	NM_001291415.2(KDM6A):c.3198del:p.Thr1067fs	coding	Pathogenic
X	45082613	CAGAT	C	A45082616T	KDM6A	NM_021140.3(KDM6A):c.3185_3188del:p.Asp1062fs	coding	Pathogenic
X	45082772	CCTAT	C	A45082775G	KDM6A	NM_001291415.2(KDM6A):c.3426_3429del:p.Ser1143fs	coding	Pathogenic
X	45083525	ATCT	A	T45083529A	KDM6A	NM_021140.3(KDM6A):c.3351_3353TCT[1]:p.Leu1119del	coding	Pathogenic
X	45085900	A	AT	A45085902T	KDM6A	NM_001291415.2(KDM6A):c.3626dup:p.Asn1210fs	coding	Pathogenic
X	45090706	GT	G	T45090717C	KDM6A	NM_021140.3(KDM6A):c.3737-6del	noncoding	Benign
X	45107507	GAACC	G	A45107509G	KDM6A	NM_021140.3(KDM6A):c.3978_3981del:p.Pro1327fs	coding	Pathogenic
X	45107534	GAAGT	G	G45107541T	KDM6A	NM_021140.3(KDM6A):c.4005+5_4005+8del	coding	Pathogenic
X	46837108	GCTT	G	T46837114C	RP2	NM_006915.3(RP2):c.11_13TCT[1]:p.Phe5del	coding	Pathogenic
X	46837114	TCTC	T	T46837116A	RP2	NM_006915.3(RP2):c.16_18del:p.Ser6del	coding	Pathogenic
X	46837122	AGACG	A	C46837125A	RP2	NM_006915.3(RP2):c.25_28del:p.Lys10fs	coding	Pathogenic
X	46837138	AG	A	G46837140A	RP2	NM_006915.3(RP2):c.40del:p.Glu14fs	coding	Pathogenic
X	46837175	G	GCA	G46837178C	RP2	NM_006915.3(RP2):c.76_77dup:p.Gln26fs	coding	Pathogenic
X	46853490	CT	C	T46853491A	RP2	NM_006915.3(RP2):c.118del:p.Tyr40fs	coding	Pathogenic
X	46853529	CT	C	T46853531A	RP2	NM_006915.3(RP2):c.158del:p.Leu53fs	coding	Pathogenic
X	46853571	CTG	C	T46853574A	RP2	NM_006915.3(RP2):c.199_200TG[1]:p.Cys67_Glu68delinsTer	coding	Pathogenic
X	46853580	CT	C	T46853581G	RP2	NM_006915.3(RP2):c.208del:p.Cys70fs	coding	Pathogenic
X	46853615	T	TTACC	A46853620T	RP2	NM_006915.3(RP2):c.243_246dup:p.Ile83fs	coding	Pathogenic
X	46853671	G	GT	G46853673T	RP2	NM_006915.3(RP2):c.299dup:p.Phe101fs	coding	Pathogenic
X	46853693	A	AT	G46853696T	RP2	NM_006915.3(RP2):c.322dup:p.Cys108fs	coding	Pathogenic
X	46853724	TC	T	C46853725G	RP2	NM_006915.3(RP2):c.352del:p.Arg118fs	coding	Pathogenic
X	46853735	AT	A	T46853737G	RP2	NM_006915.3(RP2):c.364del:p.Cys122fs	coding	Pathogenic
X	46853781	CATT	C	A46853782G	RP2	NM_006915.3(RP2):c.409_411del:p.Ile137del	coding	Pathogenic/Likely_pathogenic
X	46853781	CATTGAGTCTTCCTCAAATATCAA	C	G46853785T	RP2	NM_006915.3(RP2):c.412_434del:p.Glu138fs	coding	Pathogenic
X	46853854	GA	G	A46853855T	RP2	NM_006915.3(RP2):c.482del:p.Asp161fs	coding	Pathogenic
X	46853856	TGCAGG	T	A46853859T	RP2	NM_006915.3(RP2):c.486_490del:p.Gly163fs	coding	Pathogenic
X	46853887	A	AG	T46853889G	RP2	NM_006915.3(RP2):c.515dup:p.Ser172fs	coding	Pathogenic
X	46853899	GACTTT	G	T46853902A	RP2	NM_006915.3(RP2):c.529_533del:p.Phe177fs	coding	Pathogenic
X	46853901	CTT	C	T46853903A	RP2	NM_006915.3(RP2):c.530_531del:p.Phe177fs	coding	Pathogenic
X	46853964	CTA	C	A46853966G	RP2	NM_006915.3(RP2):c.593_594del:p.Tyr198fs	coding	Pathogenic
X	46854003	TC	T	C46854004G	RP2	NM_006915.3(RP2):c.631del:p.Arg211fs	coding	Pathogenic
X	46854010	TC	T	C46854012A	RP2	NM_006915.3(RP2):c.639del:p.Thr214fs	coding	Pathogenic
X	46860078	GA	TTC	G46860078T	RP2	NM_006915.3(RP2):c.859_860delinsTTC:p.Asp287fs	coding	Pathogenic
X	46877552	TG	T	G46877553T	RP2	NM_006915.3(RP2):c.932del:p.Cys311fs	coding	Pathogenic
X	46877589	A	AG	T46877592G	RP2	NM_006915.3(RP2):c.969+1dup	coding	Pathogenic
X	47142406	GC	G	C47142408T	NDUFB11	NM_019056.6(NDUFB11):c.402del:p.Arg134fs	coding	Pathogenic
X	47169455	GC	G	C47169456A	RBM10	NM_005676.5(RBM10):c.159del:p.Lys54fs	coding	Pathogenic
X	47169465	CTA	C	A47169467G	RBM10	NM_005676.5(RBM10):c.170_171del:p.Asp56_Tyr57insTer	coding	Pathogenic
X	47171186	TGAG	T	G47171199A	RBM10	NM_005676.5(RBM10):c.361_363GAG[4]:p.Glu125del	coding	Benign
X	47179136	TG	T	G47179137C	RBM10	NM_005676.5(RBM10):c.698del:p.Cys233fs	coding	Pathogenic
X	47181315	CAG	C	A47181318T	RBM10	NM_005676.5(RBM10):c.1350_1351AG[1]:p.Glu451fs	coding	Pathogenic
X	47181540	CTG	C	G47181544C	RBM10	NM_005676.5(RBM10):c.1471_1472GT[1]:p.Ser492fs	coding	Pathogenic
X	47181867	G	GT	G47181869T	RBM10	NM_005676.5(RBM10):c.1693+2dup	noncoding	Pathogenic
X	47182177	CAG	C	A47182180C	RBM10	NM_005676.5(RBM10):c.1804_1805del:p.Ser602fs	coding	Pathogenic
X	47182268	C	CA	C47182270A	RBM10	NM_005676.5(RBM10):c.1893dup:p.Pro632fs	coding	Pathogenic
X	47185486	CAGTG	C	T47185489G	RBM10	NM_005676.5(RBM10):c.2214_2217del:p.Ser738fs	coding	Pathogenic
X	47574770	CG	C	G47574772A	SYN1	NM_006950.3(SYN1):c.1310del:p.Pro437fs	coding	Pathogenic
X	47576240	AGACAAAG	A	A47576242G	SYN1	NM_133499.2(SYN1):c.1056-14_1056-8del	noncoding	Benign
X	47576385	GT	G	T47576387C	SYN1	NM_006950.3(SYN1):c.1001del:p.Asn334fs	coding	Pathogenic
X	47619440	CG	C	G47619441C	SYN1	NM_006950.3(SYN1):c.288del:p.Ser96fs	coding	Pathogenic
X	47619464	CCGTGGTCTGCTTGACCG	C	G47619468T	SYN1	NM_006950.3(SYN1):c.248_264del:p.Ala83fs	coding	Pathogenic
X	48478679	TG	T	G48478681T	FTSJ1	NM_012280.4(FTSJ1):c.256del:p.Val86fs	coding	Pathogenic
X	48511406	AC	A	C48511408T	PORCN	NM_203475.3(PORCN):c.250del:p.Leu84fs	coding	Pathogenic
X	48515914	GT	G	T48515915C	PORCN	NM_203475.3(PORCN):c.1049del:p.Val350fs	coding	Pathogenic
X	48515922	G	GTCCCTGGCTTTTA	A48515938C	PORCN	NM_203475.3(PORCN):c.1059_1071dup:p.Thr358fs	coding	Pathogenic
X	48523711	CT	C	T48523729A	EBP	NM_006579.3(EBP):c.-43del	noncoding	Benign
X	48523897	AGTCGTGACCACAT	A	T48523899G	EBP	NM_006579.3(EBP):c.128_140del:p.Val43fs	coding	Pathogenic
X	48523994	A	AT	C48523997T	EBP	NM_006579.3(EBP):c.225dup:p.His76fs	coding	Pathogenic
X	48524061	TATCTC	T	T48524063A	EBP	NM_006579.3(EBP):c.292_296del:p.Ser98fs	coding	Pathogenic
X	48527015	C	CGATA	C48527020G	EBP	NM_006579.3(EBP):c.329_332dup:p.Tyr111Ter	coding	Pathogenic
X	48527205	GA	G	A48527206C	EBP	NM_006579.3(EBP):c.390del:p.Pro131fs	coding	Pathogenic
X	48527239	CCGCC	T	C48527239T	EBP	NM_006579.3(EBP):c.423_427delinsT:p.Arg142fs	coding	Pathogenic
X	48527276	GTC	G	C48527280G	EBP	NM_006579.3(EBP):c.462_463CT[1]:p.Ser155fs	coding	Pathogenic
X	48528244	T	TG	A48528249G	EBP	NM_006579.3(EBP):c.484dup:p.Asp162fs	coding	Pathogenic
X	48528267	CAG	C	A48528270C	EBP	NM_006579.3(EBP):c.504_505AG[1]:p.Glu169fs	coding	Pathogenic
X	48528350	T	TA	G48528351A	EBP	NM_006579.3(EBP):c.586_587insA:p.Trp196Ter	coding	Pathogenic
X	48683814	ACCCAGAGCCTCGCCAGAGAAGACAAGGGCAGAAAGCACCATGAGTGGGGGCCCAATGGGAGGAAGGCCCGGGGGCCGAGGAGCACCAGCGGTTCAGCAGAACATACCCTCCACCCTCCTCCAGGACCACGAGAACCAGCGACTCTTTGAGATGCTTGGACGAAAATGCTTGGTGAGCTGGGGATCTCCTGCCCCCGCCCCGTCC	A	C48683817A	WAS	NM_000377.2(WAS):c.-37_132+35del	noncoding	Pathogenic
X	48683859	TG	T	G48683864C	WAS	NM_000377.2(WAS):c.11del:p.Gly4fs	coding	Pathogenic
X	48683874	AG	A	G48683876A	WAS	NM_000377.3(WAS):c.23del:p.Gly8fs	coding	Pathogenic
X	48683883	C	CG	C48683889G	WAS	NM_000377.3(WAS):c.35dup:p.Arg13fs	coding	Pathogenic
X	48683924	CCA	C	A48683926C	WAS	NM_000377.3(WAS):c.73_74del:p.Thr25fs	coding	Pathogenic
X	48684427	A	AC	A48684435C	WAS	NM_000377.3(WAS):c.273+11dup	noncoding	Benign/Likely_benign
X	48684427	A	ACC	A48684435C	WAS	NM_000377.2(WAS):c.273+10_273+11dup	noncoding	Benign/Likely_benign
X	48685575	T	TC	G48685576C	WAS	NM_000377.3(WAS):c.302_303insC:p.Tyr102fs	coding	Pathogenic
X	48685583	C	CAA	G48685585A	WAS	NM_000377.3(WAS):c.311_312insAA:p.Leu105fs	coding	Pathogenic
X	48685760	A	AGACGAG	C48685774A	WAS	NM_000377.2(WAS):c.395_400dup	coding	Pathogenic
X	48685762	AC	A	C48685763G	WAS	NM_000377.2(WAS):c.390del:p.Asp130fs	coding	Pathogenic
X	48685808	AC	A	C48685809A	WAS	NM_000377.3(WAS):c.436del:p.Gln146fs	coding	Pathogenic
X	48685941	CACAG	C	A48685948G	WAS	NM_000377.2(WAS):c.466_469delAGAC	noncoding	Pathogenic
X	48685950	ACG	A	G48685952C	WAS	NM_000377.2(WAS):c.470_471del:p.Arg157fs	coding	Pathogenic
X	48686878	ACCTAG	A	T48686881C	WAS	NM_000377.2(WAS):c.660_664del:p.Ser221_Pro222insTer	coding	Pathogenic
X	48686907	GGAA	G	A48686916T	WAS	NM_000377.2(WAS):c.695_697delAGA	coding	Benign
X	48686911	GA	G	A48686913G	WAS	NM_000377.3(WAS):c.692del:p.Lys231fs	coding	Pathogenic
X	48688325	G	TT	G48688325T	WAS	NM_000377.2(WAS):c.803delinsTT:p.Arg268fs	coding	Pathogenic
X	48688378	AC	A	C48688380T	WAS	NM_000377.3(WAS):c.858del:p.Ser287fs	coding	Pathogenic
X	48688723	TG	T	G48688729T	WAS	NM_000377.2(WAS):c.1001del:p.Gly334fs	coding	Pathogenic
X	48688723	T	TG	T48688730G	WAS	NM_000377.3(WAS):c.1001dup:p.Gly334_Asn335insTer	coding	Pathogenic
X	48688781	A	AC	A48688787C	WAS	NM_000377.3(WAS):c.1058dup:p.Pro354fs	coding	Pathogenic
X	48688781	AC	A	C48688786A	WAS	NM_000377.2(WAS):c.1058del:p.Pro353fs	coding	Pathogenic
X	48688820	AG	A	G48688825C	WAS	NM_000377.2(WAS):c.1097del:p.Gly366fs	coding	Pathogenic
X	48688880	A	AC	T48688886C	WAS	NM_000377.2(WAS):c.1157dup:p.Gly387fs	coding	Pathogenic
X	48688910	A	ACCACCACC	G48688919C	WAS	NM_000377.2(WAS):c.1183_1190dup:p.Pro398fs	coding	Pathogenic
X	48688944	T	TCCGGGAATGGACCAGCC	T48688964G	WAS	NM_000377.3(WAS):c.1219_1235dup:p.Pro413fs	coding	Pathogenic
X	48688994	C	CG	C48689000G	WAS	NM_000377.3(WAS):c.1266_1267insG	coding	Pathogenic
X	48689042	CCGGCAGGGAATTCAGCTGAACAAGGTGAGGACAGGCAGGATGGAGGATTGGGGGTCTAGGACTCTGGGGTGTCCCGTCTAAGTCAGGATACTGGGGGGCTGAGGCCAGGACTGAGGAGAGTGCCAGGCCTTAGGGATTCAGTGATAGGGTTGAAAGGTTGGTGGGAAGCCTTGAAGGGGACTGGAGTGTGTGGGAGAGAAAATATTGATGGAGGGGCGGGGAGAAATGCTCCTTTCCCAGGCCCTAAGCCCTCTGTGCTGATCCCTGCCTGCTGCAGACCCCTGGGGCCCCAGAGAGCTCAGCGCTGCAGCCACCACCTCAGAGCTCAGAGGGACTGGTGGGGGCCCTGATGCACGTGATGCAGAAGAGAAGCAGAGCCATCCACTCCTCCGGTGAGCTGATCCTGCCGGGGCCTCAAACCTGGCTCCCAGGGCTAGCACTGGCCTCAAAACAATCCCAGCAGTCACCACCAATAGTGACATCAGCCCCATCTGTTTGACAGCATTAACATGAATCTTGTGTCAGCCTCGTTTTTGACAATGTTAACATTAAGTCATTATGTGACAATAATATAATTAACTCCAACTTTGACAGTA	C	C48689043A	WAS	NM_000377.2(WAS):c.1315_1453+204del	coding	Pathogenic
X	48689061	AACAAGGTGAGG	A	A48689065G	WAS	NM_000377.2(WAS):c.1337_1338+9del	coding	Pathogenic
X	48689373	G	GGGACT	T48689381A	WAS	NM_000377.3(WAS):c.1395_1399dup:p.Val467fs	coding	Pathogenic
X	48689381	T	TG	C48689387G	WAS	NM_000377.3(WAS):c.1405dup:p.Ala469fs	coding	Pathogenic
X	48791113	G	GAGTT	C48791118A	GATA1	NM_002049.3(GATA1):c.5_8dup:p.Phe3fs	coding	Pathogenic
X	48791126	TG	T	G48791130T	GATA1	NM_002049.3(GATA1):c.21del:p.Ser8fs	coding	Pathogenic
X	48791199	A	AG	T48791204G	GATA1	NM_002049.3(GATA1):c.94dup:p.Val32fs	coding	Pathogenic
X	48791203	G	GT	C48791208T	GATA1	NM_002049.4(GATA1):c.98dup:p.Phe34fs	coding	Pathogenic
X	48791260	A	AGCACAGCCACCGCTGCAGCT	G48791283A	GATA1	NM_002049.3(GATA1):c.154_173dup:p.Ala59fs	coding	Pathogenic
X	48791272	G	GCTGCAGCTGCGGCACTGGCCTA	A48791297G	GATA1	NM_002049.3(GATA1):c.166_187dup:p.Tyr63fs	coding	Pathogenic
X	48791292	C	CTACT	A48791297T	GATA1	NM_002049.3(GATA1):c.184_187dup:p.Tyr63fs	coding	Pathogenic
X	48791328	AG	A	G48791330T	GATA1	NM_002049.4(GATA1):c.220+1del	coding	Pathogenic
X	48792346	GG	TC	G48792346T	GATA1	NM_002049.3(GATA1):c.622_623delinsTC:p.Gly208Ser	coding	Pathogenic
X	48902256	AGCCATGACAAGTCGGACAGGG	A	A48902274C	PQBP1	NM_005710.2(PQBP1):c.334_354del:p.Gly113_Arg119del	coding	Benign/Likely_benign
X	48902386	TAGAC	T	C48902390G	PQBP1	NM_005710.2(PQBP1):c.450_453del:p.Asp150fs	coding	Pathogenic
X	48902390	CAGAG	C	A48902399C	PQBP1	NM_144495.2(PQBP1):c.293-341AG[4]	coding	Pathogenic/Likely_pathogenic
X	48902390	CAG	C	A48902401C	PQBP1	NM_005710.2(PQBP1):c.451_452AG[5]:p.Glu154fs	coding	Pathogenic
X	48902390	C	CAG	C48902403A	PQBP1	NM_144495.2(PQBP1):c.293-341AG[7]	coding	Pathogenic
X	48902446	AC	A	C48902448G	PQBP1	NM_001032382.2(PQBP1):c.508del:p.Arg170fs	coding	Pathogenic
X	48902483	GGAGGAGCTGGCTCCCTATCCCAA	G	G48902487C	PQBP1	NM_005710.2(PQBP1):c.547_569del:p.Glu183fs	coding	Pathogenic
X	48902750	AAG	A	A48902753T	PQBP1	NM_005710.2(PQBP1):c.597_598AG[1]:p.Glu200fs	coding	Pathogenic
X	48902788	G	GC	G48902795C	PQBP1	NM_005710.2(PQBP1):c.640dup:p.Arg214fs	coding	Pathogenic
X	48904839	CCGGAGG	C	G48904847A	SLC35A2	NM_005660.3(SLC35A2):c.1058_1063CCTCCG[1]:p.349_350AS[3]	coding	Benign/Likely_benign
X	48904936	CA	C	A48904939T	SLC35A2	NM_005660.3(SLC35A2):c.972del:p.Phe324fs	coding	Pathogenic
X	48904960	CAA	C	A48904962G	SLC35A2	NM_005660.3(SLC35A2):c.947_948del:p.Phe316fs	coding	Pathogenic
X	48905065	CGCCGAAG	C	G48905069T	SLC35A2	NM_005660.3(SLC35A2):c.837_843del:p.Phe280fs	coding	Pathogenic
X	48905113	CA	C	A48905119G	SLC35A2	NM_005660.3(SLC35A2):c.795del:p.Phe265fs	coding	Pathogenic
X	48905133	GCCACGGCGGTACCCTCAGCCCACCAGAGCCCCACCAGGCCCAGTGCTGTGCCGAAGAGGCCCAGTTGCAGGTTGCGCAGCCACACGGAGCCTGAGCTGCCTTTGAGGATCTTCTCAAAGTAGACACCTGCGAAGCCGGAGGAGAGACAGGAGGCCACGACGGCTGCCAGGCCTGCCCCAGGGTTCTGATCCAGTGGCCGTGGGCCTCCCCCACCGGCTTGCTGTGCCTGGACAATGGCGACGCCAGTGAAGAGGAGCAGCAGGGAGGCCCACTGCAGCCGGGAAAGGCTGCGATTCAGCATGAGCACGGAGAACAGCGCTGTGGTCAGGATCTTCAGCTGGTATGTCACCTGCGAGTGGCACGTGGAAGGCACTGAGGGCTGACCCTGGCCCCCAACAGGTGCACATGGGGGGCAGCACCCACTGTGGGCCCCCAGGCACAATGGAGGGACAGGGTGGGGGGTATGACAGCAAAAACAGCAAAAGGAGCCAGCCACTGGCCATTGGCTGAGCTGCAGCAAAACAGTTCTGAAGTCTCTCCCAGCAAGTGCACAAAAGGATGGCTGTGCCAAGAAGTCCACATCCCAATCCCATTTCCTGGCTGTGTGACTGGGGACAAAGCACTTGCCCTGTCTGAGCCCTGGCATCATCATCTATAAAAGATGGCTGAGGTATGGAAGTATCTTTGTGATGAGGGACTTGATACAAATGAATCAATAGCCACAACAATGTCAGCAAATACTTACATAGTGCTTACAATATATCAGTGTGGTTCTAGGCACTGCACGTGAATTCATTCATTTAATTCTCACAACACCATTCTGAAGTGAGCACCACTGTAAGCCCCAATTTAAAGGTGAGAAAACTAAGGCACAGAGAGGTTAGGTGACGTGCCCCAAAATCACACAGCTGGAAGGTAGCAGAGCTGAGATTTGAACCCAGACAGCCTGGCCCCAGAATCCAGGCTCTTTAA	G	C48905137T	SLC35A2	NM_005660.3(SLC35A2):c.426+287_775del	coding	Pathogenic
X	48905269	CGGA	C	G48905274A	SLC35A2	NM_005660.3(SLC35A2):c.634_636TCC[1]:p.Ser213del	coding	Pathogenic
X	48905273	GGA	G	G48905278C	SLC35A2	NM_005660.3(SLC35A2):c.630_631TC[2]:p.Ser212fs	coding	Pathogenic
X	48905288	CACGA	C	A48905289C	SLC35A2	NM_005660.3(SLC35A2):c.617_620del:p.Val206fs	coding	Pathogenic
X	48905474	GTA	G	A48905476G	SLC35A2	NM_005660.3(SLC35A2):c.433_434del:p.Tyr145fs	coding	Pathogenic
X	48906469	CT	C	T48906470G	SLC35A2	NM_005660.3(SLC35A2):c.348del:p.Val117fs	coding	Pathogenic
X	48911498	GATCCCGACCTCCGCCTCCCATGCGACTGCTCGGGCAGACTGTCTCACCCGCACTGGCGGTCCCCGGCTCCAATGCACCCGCGGAAACCGCCCCTGGCCCGGGCGCCGCGGTGGAACCACCAGCC	T	G48911498T	SLC35A2	SLC35A2:c.15_91+48delinsA	noncoding	Pathogenic
X	48911629	GC	G	C48911630T	SLC35A2	NM_005660.3(SLC35A2):c.7del:p.Ala3fs	coding	Pathogenic
X	49074880	CAT	C	A49074883T	WDR45	NM_001029896.2(WDR45):c.1002_1003AT[1]:p.Tyr335fs	coding	Pathogenic
X	49074920	AG	A	G49074927T	WDR45	NM_001029896.2(WDR45):c.974-9del	noncoding	Benign
X	49075236	C	CACGG	T49075240G	WDR45	NM_001029896.2(WDR45):c.872_873insCCGT:p.Asp292fs	coding	Pathogenic
X	49075360	TCA	T	A49075362G	WDR45	NM_001029896.2(WDR45):c.827+2_827+3del	noncoding	Pathogenic
X	49075373	CGGTTGAGGCGGGTATCCTTG	C	G49075374A	WDR45	NM_001029896.2(WDR45):c.798_817del:p.Lys267fs	coding	Pathogenic
X	49075390	CTTGAGAGCAAAGAT	C	T49075391A	WDR45	NM_001029896.2(WDR45):c.787_800del:p.Ile263fs	coding	Pathogenic
X	49075396	AGCAAAGATATGGACAGTACCCTTATCACT	A	C49075398G	WDR45	NM_001029896.2(WDR45):c.766_794del:p.Asp257fs	coding	Pathogenic/Likely_pathogenic
X	49075418	TTA	T	A49075420C	WDR45	NM_001029896.2(WDR45):c.771_772del:p.Asp257fs	coding	Pathogenic
X	49075420	A	AT	C49075422T	WDR45	NM_001029896.2(WDR45):c.770dup:p.Asp257fs	coding	Pathogenic
X	49075439	AAGG	A	G49075445T	WDR45	NM_001029896.2(WDR45):c.746_748CCT[1]:p.Ser250del	coding	Pathogenic/Likely_pathogenic
X	49075580	CTCCACCAGTT	C	C49075583T	WDR45	NM_001029896.2(WDR45):c.680_689del:p.Lys227fs	coding	Pathogenic
X	49075601	TTG	T	G49075607C	WDR45	NM_001029896.2(WDR45):c.663_664CA[2]:p.Gln223fs	coding	Pathogenic
X	49075609	CAA	C	A49075611G	WDR45	NM_001029896.2(WDR45):c.659_660del:p.Leu219_Phe220insTer	coding	Pathogenic
X	49075670	T	TA	G49075672A	WDR45	NM_001029896.2(WDR45):c.599dup:p.Asn201fs	coding	Pathogenic
X	49075684	CTA	C	A49075686G	WDR45	NM_001029896.2(WDR45):c.584_585del:p.Ile195fs	coding	Pathogenic
X	49075862	TCAC	T	C49075866A	WDR45	NM_001029896.2(WDR45):c.516+1_516+3del	noncoding	Pathogenic/Likely_pathogenic
X	49075871	G	GT	G49075874T	WDR45	NM_001029896.2(WDR45):c.510dup:p.Leu171fs	coding	Pathogenic
X	49075924	CT	C	T49075925G	WDR45	NM_001029896.2(WDR45):c.457del:p.Ser153fs	coding	Pathogenic
X	49075947	TAG	A	T49075947A	WDR45	NM_001029896.2(WDR45):c.437-4_437-2delinsT	noncoding	Pathogenic
X	49076431	C	CT	G49076434T	WDR45	NM_001029896.2(WDR45):c.434dup:p.Leu147fs	coding	Pathogenic
X	49076457	C	CA	C49076461A	WDR45	NM_001029896.2(WDR45):c.408dup:p.Glu137Ter	coding	Pathogenic
X	49076493	CAT	C	T49076495G	WDR45	NM_001029896.2(WDR45):c.371_372del:p.Tyr124fs	coding	Pathogenic
X	49076741	CA	C	A49076742G	WDR45	NM_001029896.2(WDR45):c.244del:p.Trp82fs	coding	Pathogenic
X	49077647	GATCTC	G	A49077648T	WDR45	NM_001029896.2(WDR45):c.226_230del:p.Glu76fs	coding	Pathogenic
X	49077664	G	GACTA	C49077669A	WDR45	NM_001029896.2(WDR45):c.210_213dup:p.Pro72Ter	coding	Pathogenic
X	49077697	TG	T	G49077699A	WDR45	NM_001029896.2(WDR45):c.180del:p.Asn61fs	coding	Pathogenic
X	49077732	CCCACCTGCTCGTGGTCTGGACAGGGA	C	C49077736G	WDR45	NM_001029896.2(WDR45):c.131-11_145del	coding	Pathogenic
X	49077738	T	TG	C49077740G	WDR45	NM_001029896.2(WDR45):c.139dup:p.Gln47fs	coding	Pathogenic
X	49077884	CCT	C	C49077885G	WDR45	NM_001029896.2(WDR45):c.81_82del:p.Gly28fs	coding	Pathogenic
X	49077891	CCATGGCG	C	T49077894G	WDR45	NM_001029896.2(WDR45):c.69_75del:p.Cys23fs	coding	Pathogenic
X	49078037	TCA	T	A49078039T	WDR45	NM_001029896.2(WDR45):c.55+2_55+3del	noncoding	Pathogenic
X	49215241	GACGC	CCA	G49215241C	CACNA1F	NM_001256789.3(CACNA1F):c.3439-1_3442delinsTGG	coding	Pathogenic
X	49216484	A	AG	C49216489G	CACNA1F	NM_001256789.3(CACNA1F):c.3133dup:p.Leu1045fs	coding	Pathogenic
X	49218676	CAT	C	A49218679T	CACNA1F	NM_001256789.3(CACNA1F):c.2789_2790AT[1]:p.Met931fs	coding	Pathogenic
X	49218696	AG	A	G49218697A	CACNA1F	NM_001256789.3(CACNA1F):c.2772del:p.Cys925fs	coding	Pathogenic
X	49219765	T	TTCC	A49219787T	CACNA1F	NM_001256789.3(CACNA1F):c.2391_2393GGA[8]:p.Glu814dup	coding	Benign
X	49227027	AG	A	G49227028T	CACNA1F	NM_001256789.3(CACNA1F):c.1218del:p.Trp407fs	coding	Pathogenic
X	49231306	GC	G	C49231308T	CACNA1F	NM_005183.2(CACNA1F):c.276delG:p.Lys92Asnfs	coding	Pathogenic
X	49231759	G	GCACTGGC	C49231772G	CACNA1F	NM_001256789.3(CACNA1F):c.187_193dup:p.Ala65fs	coding	Pathogenic
X	49251335	CAG	C	A49251336G	FOXP3	NM_014009.4(FOXP3):c.1293_1294del:p.Ter432ThrextTer?	coding	Pathogenic
X	49251692	AA	GC	A49251692G	FOXP3	NM_014009.3(FOXP3):c.1117_1118delinsGC:p.Phe373Ala	coding	Pathogenic
X	49255491	TCTC	T	C49255494T	FOXP3	NM_014009.3(FOXP3):c.751_753del:p.Glu251del	coding	Pathogenic
X	49255722	TC	T	C49255724A	FOXP3	NM_014009.3(FOXP3):c.727del:p.Glu243fs	coding	Pathogenic
X	49880612	TGA	T	G49880617T	USP27X	NM_001145073.3(USP27X):c.306_307GA[2]:p.Asp104fs	coding	Pathogenic
X	49881329	CAAGTA	C	T49881333A	USP27X	NM_001145073.3(USP27X):c.1026_1030del:p.Ser342fs	coding	Pathogenic
X	50072497	TA	T	A50072501G	CLCN5	NM_001127898.4(CLCN5):c.328del:p.Ser110fs	coding	Pathogenic
X	50075852	G	GTA	G50075858A	CLCN5	NM_001127898.4(CLCN5):c.477_478dup:p.Cys160fs	coding	Pathogenic
X	50081756	AG	A	G50081759C	CLCN5	NM_001127898.4(CLCN5):c.845del:p.Gly282fs	coding	Pathogenic
X	50086488	TC	T	C50086489A	CLCN5	NM_001127898.4(CLCN5):c.1176del:p.Phe392fs	coding	Pathogenic
X	50086638	T	TC	A50086643C	CLCN5	NM_001127898.4(CLCN5):c.1329dup:p.Asn444fs	coding	Pathogenic
X	50086686	TG	T	G50086687T	CLCN5	NM_001127898.4(CLCN5):c.1374del:p.Phe459fs	coding	Pathogenic
X	50090136	G	GT	C50090140T	CLCN5	NM_001127898.4(CLCN5):c.1768dup:p.Ser590fs	coding	Pathogenic
X	50090138	TTC	T	C50090142T	CLCN5	NM_001127898.4(CLCN5):c.1771_1772del:p.Leu591fs	coding	Pathogenic
X	50090761	CA	C	A50090762C	CLCN5	NM_001127898.4(CLCN5):c.2236del:p.Thr746fs	coding	Pathogenic
X	50090818	AC	A	C50090821A	CLCN5	NM_001127898.4(CLCN5):c.2295del:p.Met766fs	coding	Pathogenic
X	50092156	GGATGTGTTAAAGCATATAGCACA	G	T50092161G	CLCN5	NM_001127898.4(CLCN5):c.2393_2415del:p.Val798fs	coding	Pathogenic
X	50470545	AGCGGCGGAGCCG	A	C50470559T	DGKK	NM_001013742.4(DGKK):c.110_121CGGCTCCGCCGC[1]:p.37_40PAPP[1]	coding	Benign
X	50607687	G	GCCT	T50607704C	SHROOM4	NM_020717.3(SHROOM4):c.3440_3442AGG[6]:p.Glu1151dup	coding	Benign
X	50607728	T	CTCC	T50607728C	SHROOM4	NM_020717.3(SHROOM4):c.3414delinsGGAG:p.Glu1151dup	coding	Benign
X	50607728	TTCC	T	C50607748G	SHROOM4	NM_020717.3(SHROOM4):c.3393_3395GGA[6]:p.Glu1151del	coding	Benign
X	50607728	T	TTCC	G50607751C	SHROOM4	NM_020717.3(SHROOM4):c.3393_3395GGA[8]:p.Glu1151dup	coding	Benign
X	50607758	C	CTGCTGCTGCTGT	T50607778G	SHROOM4	NM_020717.3(SHROOM4):c.3372_3383dup:p.Gln1125_Gln1128dup	coding	Benign
X	50916210	C	CTCT	C50916217T	BMP15	NM_005448.2(BMP15):c.783_785TCT[3]:p.Leu263dup	coding	Benign
X	53194575	TGCAGA	T	A53194578T	KDM5C	NM_004187.5(KDM5C):c.3597_3601del:p.Leu1200fs	coding	Pathogenic
X	53194603	GCCCA	G	C53194605A	KDM5C	NM_004187.5(KDM5C):c.3570_3573del:p.Gly1191fs	coding	Pathogenic
X	53194964	C	CA	G53194966A	KDM5C	NM_004187.5(KDM5C):c.3404dup:p.Ser1136fs	coding	Pathogenic
X	53194975	GCT	G	C53194978G	KDM5C	NM_004187.5(KDM5C):c.3390_3391AG[1]:p.Glu1131fs	coding	Pathogenic
X	53195033	GCTGT	G	T53195037A	KDM5C	NM_004187.5(KDM5C):c.3332_3335del:p.Asp1111fs	coding	Pathogenic
X	53195403	TCA	CCTG	T53195403C	KDM5C	NM_004187.5(KDM5C):c.3126_3128delinsCAGG:p.Asp1043fs	coding	Pathogenic
X	53197768	C	CA	C53197770A	KDM5C	NM_004187.4(KDM5C):c.2622+2dup	noncoding	Pathogenic
X	53197838	TCA	T	C53197839G	KDM5C	NM_004187.5(KDM5C):c.2553_2554del:p.Glu852fs	coding	Pathogenic
X	53197882	A	AAGT	T53197887G	KDM5C	NM_004187.4(KDM5C):c.2517-9_2517-7dup	noncoding	Benign/Likely_benign
X	53198623	TCA	T	C53198624G	KDM5C	NM_004187.5(KDM5C):c.2381_2382del:p.Leu794fs	coding	Pathogenic
X	53201917	G	GT	A53201919T	KDM5C	NM_004187.5(KDM5C):c.1802dup:p.Tyr601Ter	coding	Pathogenic
X	53201943	ACT	A	T53201947C	KDM5C	NM_004187.5(KDM5C):c.1773_1774AG[1]:p.Glu592fs	coding	Pathogenic
X	53210757	CA	C	A53210758G	KDM5C	NM_004187.5(KDM5C):c.1501del:p.Trp501fs	coding	Pathogenic
X	53211601	C	CA	T53211604A	KDM5C	NM_004187.5(KDM5C):c.1296dup:p.Glu433Ter	coding	Pathogenic
X	53215950	TG	T	G53215956A	KDM5C	NM_004187.5(KDM5C):c.807del:p.Thr270fs	coding	Pathogenic/Likely_pathogenic
X	53216084	CAG	C	A53216087T	KDM5C	NM_004187.5(KDM5C):c.767_768CT[1]:p.Leu257fs	coding	Pathogenic
X	53217906	C	CTA	C53217909T	KDM5C	NM_004187.5(KDM5C):c.410_411dup:p.Ala138Ter	coding	Pathogenic
X	53220864	C	CG	T53220871G	KDM5C	NM_004187.5(KDM5C):c.202dup:p.Arg68fs	coding	Pathogenic
X	53224739	C	CCG	G53224744C	KDM5C	NM_004187.5(KDM5C):c.149_150dup:p.Asp51fs	coding	Pathogenic
X	53234247	T	TTGGCC	T53234254G	IQSEC2	NM_001111125.3(IQSEC2):c.4434_4438dup:p.Lys1480fs	coding	Pathogenic
X	53234266	TG	T	G53234273T	IQSEC2	NM_001111125.3(IQSEC2):c.4419del:p.Ser1474fs	coding	Pathogenic
X	53234266	T	TG	T53234274G	IQSEC2	NM_001111125.3(IQSEC2):c.4419dup:p.Ser1474fs	coding	Pathogenic
X	53234351	AGGGGAGGGTGG	A	T53234360G	IQSEC2	NM_001111125.3(IQSEC2):c.4324_4334del:p.Pro1442fs	coding	Pathogenic
X	53234646	G	GC	G53234653C	IQSEC2	NM_001111125.3(IQSEC2):c.4039dup:p.Ala1347fs	coding	Pathogenic/Likely_pathogenic
X	53234655	C	CTGGG	C53234662G	IQSEC2	NM_001111125.3(IQSEC2):c.4027_4030dup:p.Arg1344fs	coding	Pathogenic
X	53234810	TG	T	G53234815A	IQSEC2	NM_001111125.3(IQSEC2):c.3875del:p.Pro1292fs	coding	Pathogenic/Likely_pathogenic
X	53234948	A	ATGG	C53234972G	IQSEC2	NM_001111125.3(IQSEC2):c.3717_3719CCA[8]:p.His1247dup	coding	Benign
X	53234967	T	TG	T53234970G	IQSEC2	NM_001111125.3(IQSEC2):c.3718dup:p.His1240fs	coding	Pathogenic
X	53235185	CT	C	T53235186G	IQSEC2	NM_001111125.3(IQSEC2):c.3502-2del	noncoding	Pathogenic
X	53238307	CTG	C	T53238310G	IQSEC2	NM_001111125.3(IQSEC2):c.3116-3_3116-2del	noncoding	Pathogenic
X	53239235	GA	G	A53239238G	IQSEC2	NM_001111125.3(IQSEC2):c.3074del:p.Phe1025fs	coding	Pathogenic
X	53239241	C	CT	G53239243T	IQSEC2	NM_001111125.3(IQSEC2):c.3068dup:p.Ser1024fs	coding	Pathogenic
X	53239293	A	AC	T53239296C	IQSEC2	NM_001111125.1(IQSEC2):c.3016dupG:p.Val1006Glyfs	coding	Pathogenic
X	53241815	CG	C	G53241816C	IQSEC2	NM_001111125.3(IQSEC2):c.2983del:p.Arg995fs	coding	Pathogenic
X	53247072	G	GA	G53247075A	IQSEC2	NM_001111125.3(IQSEC2):c.2645dup:p.Ile883fs	coding	Pathogenic
X	53250522	TCG	T	G53250524A	IQSEC2	NM_001111125.3(IQSEC2):c.2052_2053del:p.Cys684_Glu685delinsTer	coding	Pathogenic
X	53250549	GC	G	C53250551A	IQSEC2	NM_001111125.3(IQSEC2):c.2026del:p.Ala676fs	coding	Pathogenic
X	53250554	AC	A	C53250556A	IQSEC2	NM_001111125.3(IQSEC2):c.2021del:p.Gly674fs	coding	Pathogenic
X	53250608	TG	T	G53250612C	IQSEC2	NM_001111125.3(IQSEC2):c.1967del:p.Pro656fs	coding	Pathogenic
X	53250650	C	CG	C53250655G	IQSEC2	NM_001111125.3(IQSEC2):c.1925dup:p.Ile643fs	coding	Pathogenic
X	53250694	GGC	G	G53250695T	IQSEC2	NM_001111125.3(IQSEC2):c.1880_1881del:p.Ser627fs	coding	Pathogenic
X	53250726	CG	C	G53250728T	IQSEC2	NM_001111125.3(IQSEC2):c.1849del:p.Arg617fs	coding	Pathogenic
X	53250762	TC	T	C53250764A	IQSEC2	NM_001111125.3(IQSEC2):c.1813del:p.Asp605fs	coding	Pathogenic
X	53250899	TG	T	G53250901C	IQSEC2	NM_001111125.3(IQSEC2):c.1676del:p.Pro559fs	coding	Pathogenic
X	53250926	A	AG	C53250931G	IQSEC2	NM_001111125.3(IQSEC2):c.1649dup:p.Leu551fs	coding	Pathogenic
X	53250945	TCGGGC	T	G53250949C	IQSEC2	NM_001111125.3(IQSEC2):c.1626_1630del:p.Pro543fs	coding	Pathogenic
X	53250988	CAG	C	A53250989G	IQSEC2	NM_001111125.3(IQSEC2):c.1586_1587del:p.Pro529fs	coding	Pathogenic
X	53251017	AGGTAGAGG	A	T53251020A	IQSEC2	NM_001111125.3(IQSEC2):c.1551_1558del:p.Leu518fs	coding	Pathogenic
X	53251058	C	CAAGA	T53251059A	IQSEC2	NM_001111125.3(IQSEC2):c.1517_1518insTCTT:p.Glu506fs	coding	Pathogenic
X	53251065	TG	T	G53251066T	IQSEC2	NM_001111125.3(IQSEC2):c.1510del:p.Gln504fs	coding	Pathogenic
X	53251169	CTT	C	T53251171A	IQSEC2	NM_001111125.3(IQSEC2):c.1405_1406del:p.Lys469fs	coding	Pathogenic
X	53251182	A	AG	A53251190G	IQSEC2	NM_001111125.3(IQSEC2):c.1402-15dup	noncoding	Benign/Likely_benign
X	53254852	T	TG	C53254855G	IQSEC2	NM_001111125.3(IQSEC2):c.1078dup:p.Gln360fs	coding	Pathogenic
X	53254882	GC	G	C53254885T	IQSEC2	NM_001111125.3(IQSEC2):c.1048del:p.Ala350fs	coding	Pathogenic
X	53255859	TTA	T	A53255861C	IQSEC2	NM_001111125.3(IQSEC2):c.938_939del:p.Ile313fs	coding	Pathogenic
X	53255912	GC	G	C53255915G	IQSEC2	NM_001111125.3(IQSEC2):c.886del:p.Ala296fs	coding	Pathogenic
X	53255935	CA	C	A53255936C	IQSEC2	NM_001111125.3(IQSEC2):c.863del:p.Val288fs	coding	Pathogenic
X	53255944	AG	A	G53255950C	IQSEC2	NM_001111125.3(IQSEC2):c.854del:p.Pro285fs	coding	Pathogenic
X	53255950	GC	G	C53255956A	IQSEC2	NM_001111125.3(IQSEC2):c.848del:p.Gly283fs	coding	Pathogenic
X	53255950	G	GC	A53255957C	IQSEC2	NM_001111125.3(IQSEC2):c.848dup:p.Ala286fs	coding	Pathogenic
X	53255992	G	GTAGGGGGGTT	G53256003T	IQSEC2	NM_001111125.3(IQSEC2):c.797_806dup:p.Tyr269Ter	coding	Pathogenic
X	53255994	AG	A	G53256000T	IQSEC2	NM_001111125.3(IQSEC2):c.804del:p.Tyr269fs	coding	Pathogenic
X	53281509	C	CG	C53281516G	IQSEC2	NM_001111125.3(IQSEC2):c.737+10380dup	coding	Pathogenic
X	53320581	GC	G	C53320584G	IQSEC2	NM_001111125.3(IQSEC2):c.542del:p.Gly181fs	coding	Pathogenic
X	53320827	GT	G	T53320828G	IQSEC2	NM_001111125.3(IQSEC2):c.296del:p.His99fs	coding	Pathogenic
X	53320973	GCTGGCCCTCCAGCTCCTCGATGCGCCGCCGCTGGGTTTCCAGCAGCTGCTGCTGGCTCTCGATGATGTTGTTCAGCTCCAGCAGGTACTCCACGGC	AT	G53320973A	IQSEC2	NM_001111125.3(IQSEC2):c.55_151delinsAT:p.Ala19fs	coding	Pathogenic
X	53380685	T	TGGCC	T53380690G	SMC1A	NM_006306.4(SMC1A):c.3549_3552dup:p.Ile1185fs	coding	Pathogenic
X	53382541	T	TC	T53382543C	SMC1A	NM_006306.4(SMC1A):c.3249dup:p.Ile1084fs	coding	Pathogenic
X	53383107	C	CT	C53383109T	SMC1A	NM_006306.4(SMC1A):c.3119dup:p.Thr1041fs	coding	Pathogenic
X	53394877	CT	C	T53394878G	SMC1A	NM_001281463.1(SMC1A):c.2807del:p.Gln936fs	coding	Pathogenic
X	53394878	T	TG	A53394882G	SMC1A	NM_006306.4(SMC1A):c.2872dup:p.Gln958fs	coding	Pathogenic
X	53396232	CCTGA	C	G53396235A	SMC1A	NM_006306.4(SMC1A):c.2853_2856del:p.Ser951fs	coding	Pathogenic
X	53396274	T	TA	T53396277A	SMC1A	NM_006306.4(SMC1A):c.2814dup:p.Lys939Ter	coding	Pathogenic
X	53396319	T	TG	C53396321G	SMC1A	NM_001281463.1(SMC1A):c.2703dup:p.Ser902fs	coding	Pathogenic
X	53399603	CT	C	T53399604A	SMC1A	NM_001281463.1(SMC1A):c.2481del:p.Ile827fs	coding	Pathogenic
X	53399655	TTGG	T	G53399657C	SMC1A	NM_006306.4(SMC1A):c.2493_2495del:p.Asp831_Gln832delinsGlu	coding	Pathogenic
X	53399673	GT	G	T53399675C	SMC1A	NM_006306.4(SMC1A):c.2477del:p.Asn826fs	coding	Pathogenic
X	53403591	G	GT	C53403595T	SMC1A	NM_001281463.1(SMC1A):c.2328dup:p.Arg777fs	coding	Pathogenic
X	53403591	GT	G	T53403594C	SMC1A	NM_006306.4(SMC1A):c.2394del:p.Lys798fs	coding	Pathogenic
X	53403621	TG	T	G53403622T	SMC1A	NM_006306.4(SMC1A):c.2364del:p.Asn788fs	coding	Pathogenic
X	53405312	CG	C	G53405313T	SMC1A	NM_001281463.1(SMC1A):c.1924del:p.Arg642fs	coding	Pathogenic
X	53405615	CATCA	C	A53405620C	SMC1A	NM_006306.4(SMC1A):c.1781_1784TGAT[1]:p.Ile595fs	coding	Pathogenic
X	53405892	AC	A	C53405894T	SMC1A	NM_001281463.1(SMC1A):c.1543del:p.Val515fs	coding	Pathogenic
X	53409218	C	CG	A53409219G	SMC1A	NM_001281463.1(SMC1A):c.1322_1323insC:p.Glu442fs	coding	Pathogenic
X	53409458	GC	G	C53409459T	SMC1A	NM_006306.4(SMC1A):c.1299del:p.Lys433fs	coding	Pathogenic
X	53412949	CCTT	C	T53412958C	SMC1A	NM_001281463.1(SMC1A):c.730_732AAG[2]:p.Lys246del	coding	Pathogenic
X	53413098	GC	G	C53413101G	SMC1A	NM_001281463.1(SMC1A):c.589del:p.Ala197fs	coding	Pathogenic
X	53414776	AC	A	C53414777G	SMC1A	NM_006306.4(SMC1A):c.392del:p.Arg131fs	coding	Pathogenic
X	53562129	TTCC	T	C53562144T	HUWE1	NM_031407.7(HUWE1):c.7305_7307GGA[4]:p.Glu2440del	coding	Benign
X	53631489	T	TA	G53631499A	HUWE1	NM_031407.7(HUWE1):c.694-16dup	noncoding	Benign
X	53632572	T	TA	G53632576A	HUWE1	NM_031407.7(HUWE1):c.568-11dup	noncoding	Benign
X	53940367	TGAG	T	A53940375T	PHF8	NM_015107.3(PHF8):c.2790_2792CTC[2]:p.Ser933del	coding	Benign/Likely_benign
X	53985131	G	GC	T53985133C	PHF8	NM_015107.3(PHF8):c.2225dup:p.Ser742fs	coding	Pathogenic
X	53987794	CT	C	T53987797C	PHF8	NM_015107.3(PHF8):c.1880del:p.Lys627fs	coding	Pathogenic
X	53987902	C	CT	G53987905T	PHF8	NM_015107.3(PHF8):c.1772dup:p.Ile592fs	coding	Pathogenic
X	54017737	CA	C	A54017738G	PHF8	NM_015107.3(PHF8):c.377del:p.Leu126fs	coding	Pathogenic
X	54017746	C	CA	C54017748A	PHF8	NM_015107.3(PHF8):c.368dup:p.Pro124fs	coding	Pathogenic
X	54022359	G	GT	C54022366T	PHF8	NM_015107.3(PHF8):c.192dup:p.Arg65fs	coding	Pathogenic
X	54022819	C	CT	C54022822T	PHF8	NM_015107.3(PHF8):c.122dup:p.Ala42fs	coding	Pathogenic
X	54239108	GACAAAACAAAACAAA	G	A54239143C	WNK3	NM_020922.4(WNK3):c.3652-54TTTGT[6]	noncoding	Benign
X	54239108	GACAAAACAAA	G	A54239148C	WNK3	NM_020922.4(WNK3):c.3652-54TTTGT[7]	noncoding	Benign
X	54239108	G	GACAAAACAAAACAAA	C54239158A	WNK3	NM_020922.4(WNK3):c.3652-54TTTGT[12]	noncoding	Benign
X	54239108	G	GACAAAACAAA	C54239158A	WNK3	NM_020922.4(WNK3):c.3652-54TTTGT[11]	noncoding	Benign
X	54239108	G	GACAAA	C54239158A	WNK3	NM_020922.4(WNK3):c.3652-54TTTGT[10]	noncoding	Benign
X	54449671	T	TG	T54449676G	FGD1	NM_004463.3(FGD1):c.2135dup:p.Pro713fs	coding	Pathogenic
X	54449694	T	TAA	T54449695A	FGD1	NM_004463.3(FGD1):c.2112_2113insTT:p.Asn705fs	coding	Pathogenic
X	54468832	CAGG	C	G54468835C	FGD1	NM_004463.3(FGD1):c.1143_1145del:p.Leu382del	coding	Pathogenic
X	54470172	A	AG	C54470178G	FGD1	NM_004463.3(FGD1):c.944dup:p.Ala316fs	coding	Pathogenic
X	54470437	GA	G	A54470438G	FGD1	NM_004463.3(FGD1):c.679del:p.Ser227fs	coding	Pathogenic
X	54470696	AG	A	G54470702A	FGD1	NM_004463.3(FGD1):c.545del:p.Pro182fs	coding	Pathogenic
X	54470714	TG	T	G54470722C	FGD1	NM_004463.3(FGD1):c.527del:p.Pro176fs	coding	Pathogenic
X	54470714	T	TG	C54470723G	FGD1	NM_004463.3(FGD1):c.527dup:p.Leu177fs	coding	Pathogenic/Likely_pathogenic
X	54495386	TC	T	C54495387G	FGD1	NM_004463.3(FGD1):c.46del:p.Glu16fs	coding	Pathogenic
X	54540229	TAAA	T	A54540230G	GNL3L	NM_001184819.2(GNL3L):c.177_179del:p.Lys62del	coding	Benign
X	54810059	ATG	A	T54810062G	MAGED2	NM_177433.3(MAGED2):c.384_385TG[1]:p.Val129fs	coding	Pathogenic
X	54815531	ACAGTGC	A	T54815547C	MAGED2	NM_177433.3(MAGED2):c.1674_1679TGCCAG[2]:p.559_560AS[2]	coding	Benign
X	55009234	CCACT	C	C55009241T	ALAS2	NM_000032.5(ALAS2):c.1702_1705AGTG[1]:p.Glu569fs	coding	Pathogenic
X	55009243	CAT	C	A55009244G	ALAS2	NM_000032.5(ALAS2):c.1699_1700del:p.Met567fs	coding	Pathogenic
X	55009267	GCGACAGAAATTGCAGGCAGCCACAGA	G	G55009269A	ALAS2	NM_000032.5(ALAS2):c.1651_1676del:p.Ser551fs	coding	Pathogenic
X	57292569	TGTCAAGTACAG	T	C57292572G	FAAH2	NM_174912.3(FAAH2):c.267_275+2del	coding	Pathogenic
X	63655508	TC	T	C63655510T	ARHGEF9	NM_001353921.2(ARHGEF9):c.1306del:p.Glu436fs	coding	Pathogenic
X	63674107	GT	G	T63674109G	ARHGEF9	NM_001353921.2(ARHGEF9):c.875del:p.Asn292fs	coding	Pathogenic
X	64191845	TC	T	C64191847T	AMER1	NM_152424.4(AMER1):c.1441del:p.Asp481fs	coding	Pathogenic
X	64192019	AG	A	G64192021T	AMER1	NM_152424.4(AMER1):c.1267del:p.Leu423fs	coding	Pathogenic
X	64192027	ATTGGGCCGTGGATACAT	A	C64192034A	AMER1	NM_152424.4(AMER1):c.1243_1259del:p.Met415fs	coding	Pathogenic
X	64192065	ATTCTAAG	A	T64192067C	AMER1	NM_152424.4(AMER1):c.1215_1221del:p.Leu406fs	coding	Pathogenic
X	64192186	T	TG	C64192187G	AMER1	NM_152424.4(AMER1):c.1100_1101insC:p.Gly368fs	coding	Pathogenic
X	64192506	G	GT	C64192512T	AMER1	NM_152424.4(AMER1):c.780dup:p.Pro261fs	coding	Pathogenic
X	64192518	C	CT	A64192522T	AMER1	NM_152424.4(AMER1):c.768dup:p.Asp257fs	coding	Pathogenic
X	64192581	CA	C	A64192582G	AMER1	NM_152424.4(AMER1):c.705del:p.Pro237fs	coding	Pathogenic
X	64192615	AG	A	G64192619C	AMER1	NM_152424.4(AMER1):c.671del:p.Pro224fs	coding	Pathogenic
X	64192730	CCA	C	C64192731G	AMER1	NM_152424.4(AMER1):c.555_556del:p.Gly186_Ala187insTer	coding	Pathogenic
X	64203963	GGGTCTCGTTGCCCCTCCTCAAAGTGCCCAAGCTTTGCCTGGGCCCTGCAGCCCACAGGGCTCTCCACACCAGAGGTTAATCAAAGGTCCAAGAGCTTACCAAGCCCCCAGTGGCTTCCTCTGTCCTATTCCTCAAAAAGGCCTAGAGAGCCCACTGCCAGAGGTGCACCATGGTGCAGTGACTGTGCAGTGGGTGGTGCCGAATGAGGGGAGCCACACTGGGGGAGGGGGCTCTGCTGGAATCCCGGTGGGGCAGGCAGTCCAACAGTGCAGTGCCCTCTGCCTTGCCCATGCCCACGCCGCTGCAGCAGGCAGGCAGAGCCGCAGAGGAAGATGTTTGTGTGTGGAACAAGGCTCGCCTTGACCCCGCGGCCCTTGCCGAAAGCAGCCTGGCCAAACGGAGACCAGCTCTGCGGGGCCAGTCCAGCTGCCGCCTAGGCGCTTGGGCTGTGACGCATGTAGCGGGCACAGCCCCTCACCACCGGGGGAGCCAAGCAAAGTCCAGCGTTCGGGCGGTCACCAGTGTCAGAAGTGTCTCCAGCAGACAATGACAGGGGCCTGGCGGGCTGGGTATGTTAAGTAACTGCGAAGTTGGAGGGTTTGGCCACCTCGCTAGCTCTCCTGTACACAGAGATGGTATGATACGTTCCGTACTACAATGAGGGCTCCTTCGGCCTCTGGCAAGGAAATGCCCCCCAAACACCGTGCCTATTGCTATTTTTAAACGGGAGGCTGGAGAGGAAAACGCGGCCAGTATCCTCCAAGGGAAAAGGAGGTGAGGCGAGGCGAGGCGGGAGACAAAGCGGCCTTGCAGCTCTAACTCAAGGACTAGCTTGCGCCGCTGCTCTAACCCAAGGACCAGCAAGAGCCCGGCTGCCAGCCAGCCTGCCCGACCGCGGGGGCGGGCGCCAGATGCGCCCGGAGGCCCAGGAGGAGGGGCGCGGCTAGTTGGGGCCACAAGGCCAAGGTTCTGAAGGGAAGTGTGCGACTGAGCTCAGCCCACAGGCCCAACTGAGCTCCTCTGGGGAGGGGGCAGTCTGTGGATGTCCCAATCCACGCCAAAGCCGGTCTCCGTCGGGCCCAAGCCAGCACGCCAGCTTGAGTCCGCAGAAAGGAGGGAGAGGCTGGAGATGCACAGGGGAGGGGAGGGGCGGCAGCCAGGCAGCCGGAGAGAGGGGTGAGCGGTACCCGCGTTACACAGCTGTTCCAGCAAATGTGCTACAACAAAGCTGCAGAGCTCCTGGCCTACAAATGCATGGCTTGGGGTGCTGGCTGGCGGCGCCCTTCCCGGGACTGTGCGGCAGCACGTGCGGGCCCATCCCCGCCCCCCCGAAAGCCGGGAGGCTTGGCCCAGGCTAGCCTGCCTTCCTACCCGCCCTCCCCAACCCCCCTCCCCCCAGCCGTGGTCGCTTGTGCCCAGGGGACTCAAGGCCGCTCTGCCTCTCCACCCGACAGTCCGCAAAGCGGGTTCCAAAGGAGAGGGGCGAGCGACCGGGACTCCGACCCGCCTAGTCCTTAGTGCCCTCCTCCAGTCCGTAGGAGCAGAGCACGCGGGAATGCACCCGACCGCGGGCAGGCGGAGGCTCCTGGCTGTACGCAACGCTTACCCAGCCCGGTCAGGTTCCTAGCCCGGTTATTGTCCGCTGAGCCGCCCTGGGCCGGGCTGCAGCCTCGGCTGCCACGGCTGAGAGCGCCGCCACCGCAGCTGCTGCCGCCGTCGCCGCGGCTCCAGTCACCTCCAGCACTGACTCCCCTTCCCCAGGCTTTGGGTAGCTCCCCCATACCCCCTCCCCCAGTACTCCAAGGCCACCGGGTGGGGCATCTGCGTCCTGATTGGCAGGCATATGGCCCAATCGCTATGGTGGGAAGGCGTGCCCCGGCCCGCCCACTGTTTTCCTTGGTGCGTTTCTCTTTAAATGCAAATAA	G	G64203965T	AMER1	NC_000023.11:g.64203964_64205888del	noncoding	Pathogenic
X	64205189	AAGCTGCAGAGCTCCTGGCCTACAAATGCATGGCTTGGGGTGCTGGCTGGCGGCGCCCTTCCCGGGACTGTGCGGCAGCACGTGCGGGCCCATCCCCGCCCCCCCGAAAGCCGGGAGGCTTGGCCCAGGCTAGCCTGCCTTCCTACCCGCCCTCCCCAACCCCCCTCCCCCCAGCCGTGGTCGCTTGTGCCCAGGGGACTCAAGGCCGCTCTGCCTCTCCACCCGACAGTCCGCAAAGCGGGTTCCAAAGGAGAGGGGCGAGCGACCGGGACTCCGACCCGCCTAGTCCTTAGTGCCCTCCTCCAGTCCGTAGGAGCAGAGCACGCGGGAATGCACCCGACCGCGGGCAGGCGGAGGCTCCTGGCTGTACGCAACGCTTACCCAGCCCGGTCAGGTTCCTAGCCCGGTTATTGTCCGCTGAGCCGCCCTGGGCCGGGCTGCAGCCTCGGCTGCCACGGCTGAGAGCGCCGCCACCGCAGCTGCTGCCGCCGTCGCCGCGGCTCCAGTCACCTCCAGCACTGACTCCCCTTCCCCAGGCTTTGGGTAGCTCCCCCATACCCCCTCCCCCAGTACTCCAAGGCCACCGGGTGGGGCATCTGCGTCCTGATTGGCAGGCATATGGCCCAATCGCTATGGTGGGAAGGCGTGCCCCGGCCCGCCCACTGTTTTCCTTGGTGCGTTTCTCTTTAAATGCAAATAAGTGCAGGCGTGGTGTTGGCAGGGGGCGGAGAGGGTGCGGAACCACTGGCTGGGGCTCCCCACTCCCGCCCCCACGCCGGGCTGGTAGTGGCGTGGCTACACCGTGGCCTCAAGGAGCCAGTCCTGCCCGGATGGGGCTCGCCGGATCGGTTTCGGTTTTCACGCACTCCCATTTCTGTGGCCGCTGTGCATTCGCGGTACTGTGCCCTGGCCGCCACCAGGACGTTTATTCCTGAGCTAGAGGCCGGCGGGGAGTAACGAGGCAGAGAGGTTGAGGAATCTGGGAAGACTGCAGAAACCTAAGGGCCGGCCTATCCTTAGTCGTAGAGACAAGGCCCTGCGGATCGCGCCGCCAGGCCACCCAGAGGAGGGACTCACCTGCCAGGAAAGCTAGCTGCAGCGCCTGCGCCCTAACTTCGTCCGCCTCTCTGGCACACCAGTGCCCTTAGAGACCATAGAGGCCAACTTCCACCCGTTACCGACGGGCCCTCTGCTGCCCAGAGTGGGGAAAGTCCCTCCCCACAGTTACCCAGCCTGCCGGCGACAAGGGCCAATTTGGAATCCAGAGCCCCGGGCTCCCTTTCCAGGATTGCTTTCACTTTTCTTCTCTGAGATGATACCTGTTTCCATAGTTTGACCCTCACCCAAATTTCGCACCTTCTATGGAATGTGGAGGGAATCCCCAAGGTCTCCAGAGTCCCCCTTCCCCCATCCTTTGTGAGCCTGGCTTTCGGCAGGCCTTTTTCCTTGAAAAGTCTAAATATTGAGAGGAAAATCTTGTCTGGGCCCAAACCGGAGGTCAGGCTGAGGACAAAGTGAGGAGGCCTGTACCAGCCTTGTCTGCTACTGTGTGTGGGATGTGGCAGGGAGCCCG	A	A64205190G	AMER1	NC_000023.11:g.64205190_64206761del	noncoding	Pathogenic
X	64917881	GA	G	A64917882C	ZC4H2	NM_018684.4(ZC4H2):c.576del:p.His193fs	coding	Pathogenic
X	64919152	T	TG	C64919159G	ZC4H2	NM_018684.4(ZC4H2):c.450dup:p.Ile151fs	coding	Pathogenic
X	64920232	ATTGT	A	T64920236A	ZC4H2	NM_018684.4(ZC4H2):c.243_246del:p.Lys81fs	coding	Pathogenic
X	64921912	G	GCCTTT	C64921921T	ZC4H2	NM_018684.4(ZC4H2):c.125_129dup:p.His44fs	coding	Pathogenic
X	64976354	CAT	C	A64976355G	ZC4H2	NM_018684.4(ZC4H2):c.22_23del:p.Met8fs	coding	Pathogenic
X	65518108	CTCTTCATCA	C	A65518126C	LAS1L	NM_031206.6(LAS1L):c.1788_1796TGATGAAGA[1]:p.596_598DDE[1]	coding	Benign
X	65518120	TTCA	T	A65518126T	LAS1L	NM_031206.7(LAS1L):c.1788_1790TGA[1]:p.Asp597del	coding	Benign
X	67545163	G	GGCTGGGAAGGGTCTACCCTCGGCCGCCGTCCAAGACCTACCGAGGAGCTTTCCAGAATCTGTTCCAGAGCGTGCGCGAAGTGATCCAGAACCCGGGCCCCAGGCACCCAGAGGCCGCGA	G67545285T	AR	NM_000044.6(AR):c.20_138dup:p.Ala47delinsTrpGluGlySerThrLeuGlyArgArgProArgProThrGluGluLeuSerArgIleCysSerArgAlaCysAlaLysTer	coding	Pathogenic
X	67545306	T	TTGC	A67545319T	AR	NM_000044.6(AR):c.161TGC[5]:p.Leu57dup	coding	Pathogenic
X	67545316	TGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA	T	G67545341A	AR	NM_000044.4(AR):c.172_174(7_37):p.Gln80_Glu81insGlnGlnGlnGlnGlnGln	coding	Benign
X	67545316	TGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA	T	G67545350A	AR	NM_000044.4(AR):c.172_174CAG(10_36):p.Gln69_Gln80del	coding	Pathogenic
X	67545316	TGCAGCAGCAGCAGCAGCAGCAGCA	T	G67545362A	AR	NM_000044.6(AR):c.171_173GCA[15]:p.Gln73_Gln80del	coding	Benign
X	67545316	TGCAGCAGCAGCAGCA	T	G67545371A	AR	NM_000044.6(AR):c.171_173GCA[18]:p.Gln76_Gln80del	coding	Benign
X	67545316	TGCAGCAGCAGCA	T	G67545374A	AR	NM_000044.6(AR):c.171_173GCA[19]:p.Gln77_Gln80del	coding	Benign
X	67545318	C	CAGT	C67545321T	AR	NM_000044.6(AR):c.174_175insTAG:p.Gln59Ter	coding	Pathogenic
X	67545324	C	CA	G67545326A	AR	NM_000044.6(AR):c.179dup:p.Gln61fs	coding	Pathogenic
X	67545325	AGC	A	G67545326A	AR	NM_000044.6(AR):c.180_181del:p.Gln61fs	coding	Pathogenic
X	67545327	C	CAGT	C67545330T	AR	NM_000044.6(AR):c.183_184insTAG:p.Gln62Ter	coding	Pathogenic
X	67545341	GCAGC	TT	G67545341T	AR	NM_000044.6(AR):c.195_199delinsTT:p.Gln65_Gln67delinsHisTer	coding	Pathogenic
X	67545561	G	GT	G67545563T	AR	NM_000044.6(AR):c.416dup:p.Ala140fs	coding	Pathogenic
X	67545837	A	ACCATT	T67545843C	AR	NM_000044.6(AR):c.692_696dup:p.Ser233fs	coding	Pathogenic
X	67545892	T	TG	T67545896G	AR	NM_000044.6(AR):c.749dup:p.Val251fs	coding	Pathogenic
X	67545901	AGGCGTTGGAG	A	G67545902C	AR	NM_000044.6(AR):c.756_765del:p.Glu252fs	coding	Pathogenic
X	67545936	C	CG	A67545943G	AR	NM_000044.6(AR):c.796dup:p.Asp266fs	coding	Pathogenic
X	67545971	T	TCCACCCGCTGTGCGTC	T67545992C	AR	NM_000044.6(AR):c.830_845dup:p.Pro283fs	coding	Pathogenic
X	67546078	CT	C	T67546081C	AR	NM_000044.6(AR):c.935del:p.Phe312fs	coding	Pathogenic
X	67546166	A	ACTGC	G67546172T	AR	NM_000044.6(AR):c.1022_1025dup:p.Ser343fs	coding	Pathogenic
X	67546178	CCTGT	C	G67546181C	AR	NM_000044.6(AR):c.1035_1038del:p.Leu347fs	coding	Pathogenic
X	67546455	ACT	A	C67546460T	AR	NM_000044.6(AR):c.1310_1311CT[2]:p.Phe439fs	coding	Pathogenic
X	67546480	AG	A	G67546481T	AR	NM_000044.6(AR):c.1335del:p.Gln445fs	coding	Pathogenic
X	67546514	TGGCGGCGGC	T	G67546558A	AR	NM_000044.6(AR):c.1370_1372GCG[14]:p.Gly471_Gly473del	coding	Benign/Likely_benign
X	67546514	TGGCGGC	T	G67546561A	AR	NM_000044.6(AR):c.1370_1372GCG[15]:p.Gly472_Gly473del	coding	Benign/Likely_benign
X	67546514	T	TGGC	A67546567G	AR	NM_000044.6(AR):c.1370_1372GCG[18]:p.Gly473dup	coding	Benign
X	67546524	G	GGGC	C67546526G	AR	NM_000044.6(AR):c.1379_1380insGCG:p.Gly461_Gly462insArg	coding	Benign
X	67546581	G	GC	T67546587C	AR	NM_000044.6(AR):c.1440dup:p.Tyr481fs	coding	Pathogenic
X	67546596	ACTCG	A	C67546597G	AR	NM_000044.6(AR):c.1451_1454del:p.Thr484fs	coding	Pathogenic
X	67546601	GC	G	C67546606T	AR	NM_000044.6(AR):c.1460del:p.Pro487fs	coding	Pathogenic
X	67546759	T	TG	C67546761G	AR	NM_000044.6(AR):c.1614dup:p.Arg539fs	coding	Pathogenic
X	67643359	GCT	G	T67643363A	AR	NM_000044.6(AR):c.1722_1723TC[1]:p.Leu575fs	coding	Pathogenic
X	67711401	GC	G	C67711404G	AR	NM_000044.6(AR):c.1888del:p.Arg630fs	coding	Pathogenic
X	67711467	AG	A	G67711468C	AR	NM_000044.6(AR):c.1952del:p.Ser651fs	coding	Pathogenic
X	67711552	AAGCCATTGAGCCAGGTGT	A	C67711555T	AR	NM_000044.6(AR):c.2039_2056del:p.Ala680_Val685del	coding	Pathogenic
X	67711674	GC	G	C67711676A	AR	NM_000044.6(AR):c.2160del:p.Lys721fs	coding	Pathogenic
X	67717569	CA	C	A67717570C	AR	NM_000044.6(AR):c.2266del:p.Thr756fs	coding	Pathogenic
X	67717585	AGGATGC	TTCGCCCCTGA	A67717585T	AR	NM_000044.6(AR):c.2281_2287delinsTTCGCCCCTGA:p.Arg761fs	coding	Pathogenic
X	67717604	CT	C	T67717605G	AR	NM_000044.6(AR):c.2301del:p.Asp768fs	coding	Pathogenic
X	67722917	G	GA	T67722924A	AR	NM_000044.6(AR):c.2546dup:p.Asn849fs	coding	Pathogenic
X	67722938	CAA	C	A67722939G	AR	NM_000044.6(AR):c.2562_2563del:p.Arg855fs	coding	Pathogenic
X	67723690	CG	C	G67723691A	AR	NM_000044.6(AR):c.2613del:p.Arg872fs	coding	Pathogenic
X	67723760	AATG	A	A67723764G	AR	NM_000044.6(AR):c.2683_2685ATG[1]:p.Met896del	coding	Pathogenic
X	67723797	ATC	A	T67723798C	AR	NM_000044.6(AR):c.2720_2721del:p.Ile907fs	coding	Pathogenic
X	68053797	ACTGTCAGCATCCC	A	T68053801G	OPHN1	NM_002547.2(OPHN1):c.2159_2171delGGGATGCTGACAG:p.Gly720Valfs	coding	Pathogenic
X	68073240	T	TGTC	A68073244G	OPHN1	NM_002547.3(OPHN1):c.1743_1745dup:p.Thr582dup	coding	Benign
X	68096976	AT	A	T68096978A	OPHN1	NM_002547.3(OPHN1):c.1579del:p.Ile527fs	coding	Pathogenic
X	68192929	AT	A	T68192931C	OPHN1	NM_002547.3(OPHN1):c.1265del:p.Asn422fs	coding	Pathogenic
X	68201643	CAG	C	G68201645A	OPHN1	NM_002547.3(OPHN1):c.999_1000del:p.Phe333fs	coding	Pathogenic
X	68201682	CA	C	A68201683G	OPHN1	NM_002547.3(OPHN1):c.961del:p.Cys321fs	coding	Pathogenic
X	68210212	TG	T	G68210216A	OPHN1	NM_002547.3(OPHN1):c.772del:p.Gln258fs	coding	Pathogenic
X	68210232	T	TTTCTTAAG	C68210246A	OPHN1	NM_002547.3(OPHN1):c.745_752dup:p.Lys251fs	coding	Pathogenic
X	68212164	CCA	C	C68212167G	OPHN1	NM_002547.3(OPHN1):c.642_643TG[1]:p.Val215fs	coding	Pathogenic
X	68433015	A	AC	A68433019C	OPHN1	NM_002547.3(OPHN1):c.5dup:p.His3fs	coding	Pathogenic
X	68829859	T	TG	C68829862G	EFNB1	NM_004429.4(EFNB1):c.85dup:p.Ala29fs	coding	Pathogenic
X	68829868	A	ACCTGGAGCCCGTAT	T68829891C	EFNB1	NM_004429.4(EFNB1):c.101_114dup:p.Ser39fs	coding	Pathogenic
X	68838643	TCTAT	CAAG	T68838643C	EFNB1	NM_004429.5(EFNB1):c.155_159delinsCAAG:p.Ile52fs	coding	Pathogenic
X	68838745	CAGCTGCCTG	C	A68838746T	EFNB1	NM_004429.4(EFNB1):c.258_266del:p.Ala87_Cys89del	coding	Pathogenic
X	68838811	T	TA	C68838813A	EFNB1	NM_004429.5(EFNB1):c.324dup:p.Arg109fs	coding	Pathogenic
X	68840019	AAC	A	A68840022T	EFNB1	NM_004429.4(EFNB1):c.560_561AC[1]:p.Thr188fs	coding	Pathogenic
X	68840020	AC	A	C68840021A	EFNB1	NM_004429.4(EFNB1):c.561del:p.Asn187fs	coding	Pathogenic
X	69616270	GGCTCCCGGGCCTCAAGAGAGTGGGTGTCTCCGGAGGCCATGGGCTACCCGGAGGTGGAGCGCAGGGAACTCCTGCCTGCAGCA	G	T69616273G	EDA	NM_001399.5(EDA):c.-36_47del:p.Met1fs	noncoding	Pathogenic
X	69616316	AC	A	C69616319G	EDA	NM_001399.5(EDA):c.11del:p.Pro4fs	coding	Pathogenic
X	69616438	C	CTGGG	T69616444G	EDA	NM_001399.5(EDA):c.132_135dup:p.Phe46fs	coding	Pathogenic
X	69616536	CCGCCTT	AA	C69616536A	EDA	NM_001399.5(EDA):c.228_234delinsAA:p.Leu78fs	coding	Pathogenic
X	69616545	C	CG	C69616548G	EDA	NM_001399.5(EDA):c.239dup:p.Ser81fs	coding	Pathogenic
X	69616550	CG	C	G69616553C	EDA	NM_001399.5(EDA):c.245del:p.Gly82fs	coding	Pathogenic
X	69616559	CT	C	T69616560G	EDA	NM_001399.5(EDA):c.252del:p.Gly85fs	coding	Pathogenic
X	69616577	T	TA	G69616580A	EDA	NM_001399.5(EDA):c.271dup:p.Ser91fs	coding	Pathogenic
X	69616579	A	AG	C69616581G	EDA	NM_001399.5(EDA):c.272dup:p.Ser91fs	coding	Pathogenic
X	69616626	T	TGGGC	A69616631G	EDA	NM_001399.5(EDA):c.319_322dup:p.Gln108fs	coding	Pathogenic
X	69616695	CG	C	G69616698C	EDA	NM_001399.5(EDA):c.390del:p.His131fs	coding	Pathogenic
X	69616707	G	GA	G69616709A	EDA	NM_001399.5(EDA):c.396+4dup	noncoding	Pathogenic
X	69957040	ATTTC	A	T69957043C	EDA	NM_001399.5(EDA):c.413_416del:p.Phe138fs	coding	Pathogenic
X	69957088	G	GT	G69957090T	EDA	NM_001399.5(EDA):c.459dup:p.Val154fs	coding	Pathogenic
X	70023236	AA	T	A70023236T	EDA	NM_001399.5(EDA):c.521_522delinsT:p.Lys174fs	coding	Pathogenic
X	70027865	GCAGGACCTCCTGGACCCAATGGCCCTCCAGGACCCC	G	T70027876A	EDA	NM_001399.5(EDA):c.546_581del:p.Asn185_Pro196del	coding	Pathogenic
X	70027876	TGGACCCAATGGCCCTCCAGGACCCCCAGGACCTCCA	T	A70027883C	EDA	NM_001399.5(EDA):c.553_588del:p.Asn185_Pro196del	coding	Pathogenic
X	70027887	G	GC	T70027891C	EDA	NM_001399.5(EDA):c.560dup:p.Pro188fs	coding	Pathogenic
X	70027888	CCCTCCAGGACCCCCAGGA	C	C70027902A	EDA	NM_001399.5(EDA):c.572_589del:p.188_190PGP[1]	coding	Pathogenic
X	70027891	TCCAGGACCCCCAGGACCTCCAGGACCCC	T	C70027892A	EDA	NM_001399.5(EDA):c.562_589del:p.Pro188fs	coding	Pathogenic
X	70027903	A	AT	G70027904T	EDA	NM_001399.5(EDA):c.573_574insT:p.Gly192fs	coding	Pathogenic
X	70027915	AC	A	C70027919A	EDA	NM_001399.5(EDA):c.589del:p.Gln197fs	coding	Pathogenic
X	70027920	AG	A	G70027923A	EDA	NM_001399.5(EDA):c.593del:p.Gly198fs	coding	Pathogenic
X	70027924	A	AC	A70027930C	EDA	NM_001399.5(EDA):c.599dup:p.Gly201fs	coding	Pathogenic
X	70027924	AC	A	C70027929A	EDA	NM_001399.5(EDA):c.599del:p.Pro200fs	coding	Pathogenic
X	70027930	AGGAATTCCAGGGATTCCT	A	G70027942A	EDA	NM_001399.5(EDA):c.612_629del:p.202_204IPG[1]	coding	Pathogenic/Likely_pathogenic
X	70027972	GGGACCACCTGGTCCTCCAGGTCCTCCTGGTCCTCAA	G	A70027978C	EDA	NM_001399.5(EDA):c.648_683del:p.Pro219_Gly230del	coding	Pathogenic
X	70027978	ACCTGGTCCTCCAGGTCCT	A	C70027989A	EDA	NM_001399.5(EDA):c.659_676del:p.217_219PGP[1]	coding	Pathogenic/Likely_pathogenic
X	70027984	TCCTCCAGGTCCTCCTGGTCCTCAAGGACCCCCTGG	T	T70027993G	EDA	NM_001399.5(EDA):c.663_697del:p.Pro222fs	coding	Pathogenic
X	70027997	CCTGGTCCTCAAGGACCCCCTGGCCTCCAGGGACCTT	C	C70028003G	EDA	NM_001399.5(EDA):c.673_706+2del	coding	Pathogenic
X	70028007	AAGGACCCCCTGGCCTCC	A	A70028011G	EDA	NM_001399.5(EDA):c.681_697del:p.Pro228fs	coding	Pathogenic
X	70028011	A	AC	T70028017C	EDA	NM_001399.5(EDA):c.686dup:p.Gly230fs	coding	Pathogenic
X	70028046	CCT	C	C70028047G	EDA	NM_001399.5(EDA):c.706+11_706+12del	noncoding	Benign
X	70033412	GT	G	T70033413G	EDA	NM_001399.5(EDA):c.809del:p.Val270fs	coding	Pathogenic
X	70033424	TG	T	G70033426T	EDA	NM_001399.5(EDA):c.822del:p.Trp274fs	coding	Pathogenic
X	70033476	GGGAGCTGGAGGTACTGGT	G	G70033480C	EDA	NM_001399.5(EDA):c.876_893del:p.Glu292_Val297del	coding	Pathogenic
X	70033513	C	CTA	G70033518T	EDA	NM_001399.5(EDA):c.910_911TA[3]:p.Ser305fs	coding	Pathogenic
X	70035380	AC	A	C70035381T	EDA	NM_001399.5(EDA):c.948del:p.Phe317fs	coding	Pathogenic
X	70284588	CG	C	G70284590T	RAB41	NM_001363807.1(RAB41):c.616del:p.Val206fs	coding	Benign
X	70353614	TTTTCCAGCA	ATAATGAAAG	T70353614A	KIF4A	NM_012310.5(KIF4A):c.1489-8_1490delinsATAATGAAAG	noncoding	Pathogenic
X	70445359	GC	G	C70445360T	DLG3	NM_021120.4(DLG3):c.159del:p.Tyr54fs	coding	Pathogenic
X	70451967	T	TC	A70451974C	DLG3	NM_021120.4(DLG3):c.1092dup:p.Thr365fs	coding	Pathogenic
X	70454278	GC	G	C70454280A	DLG3;DLG3-AS1	NM_021120.4(DLG3):c.1369del:p.Gln457fs	coding	Pathogenic
X	70454279	CCAGT	C	G70454286C	DLG3	NM_021120.4(DLG3):c.1371_1374GTCA[1]:p.Val459fs	coding	Pathogenic
X	70492582	A	AT	G70492585T	DLG3	NM_021120.4(DLG3):c.1761dup:p.Glu588Ter	coding	Pathogenic
X	71107886	ACT	A	T71107890A	IL2RG	NM_000206.2(IL2RG):c.956_957AG[1]:p.Leu321fs	coding	Pathogenic
X	71108290	TGGTATTCA	T	G71108292T	IL2RG	NM_000206.2(IL2RG):c.903_910del:p.Glu302fs	coding	Pathogenic
X	71109273	T	TCCAATGCTG	A71109283C	IL2RG	NM_000206.2(IL2RG):c.703_711dup:p.Gln235_Trp237dup	coding	Pathogenic
X	71109380	ACT	A	C71109381G	IL2RG	NM_000206.3(IL2RG):c.603_604del:p.Val202fs	coding	Pathogenic
X	71110152	TCA	T	C71110155G	IL2RG	NM_000206.2(IL2RG):c.594+2_594+3del	noncoding	Pathogenic
X	71110201	CA	C	A71110204C	IL2RG	NM_000206.2(IL2RG):c.548del:p.Leu183fs	coding	Pathogenic
X	71110530	GT	G	T71110531G	IL2RG	NM_000206.2(IL2RG):c.427del:p.Thr143fs	coding	Pathogenic
X	71110629	TC	T	C71110630T	IL2RG	NM_000206.2(IL2RG):c.328del:p.Glu110fs	coding	Pathogenic
X	71110663	CT	C	T71110666A	IL2RG	NM_000206.3(IL2RG):c.294del:p.Val99fs	coding	Pathogenic
X	71110904	G	GCAGA	G71110909C	IL2RG	NM_000206.2(IL2RG):c.258_261dup:p.His88fs	coding	Pathogenic
X	71110940	T	TAGCA	G71110941A	IL2RG	NM_000206.3(IL2RG):c.225_226insTGCT:p.Ser76delinsCysTer	coding	Pathogenic
X	71110954	T	TTCATG	A71110961C	IL2RG	NM_000206.2(IL2RG):c.207_211dup:p.Asn71delinsThrTer	coding	Pathogenic
X	71110996	A	AGGGGCAGAGTGGAAACACTGAGG	A71111021G	IL2RG	NM_000206.3(IL2RG):c.147_169dup:p.Leu57fs	coding	Pathogenic
X	71111452	GC	G	C71111453G	IL2RG	NM_000206.2(IL2RG):c.87del:p.Asn31fs	coding	Pathogenic
X	71119486	ACT	A	C71119489G	MED12	NM_005120.3(MED12):c.204+12_204+13del	noncoding	Benign
X	71132767	C	CCTCTTCTCTT	T71132830C	MED12	NM_005120.3(MED12):c.4416-77CTCTT[14]	noncoding	Benign
X	71132767	CCTCTT	C	C71132825T	MED12	NM_005120.3(MED12):c.4416-77CTCTT[11]	noncoding	Benign
X	71132767	CCTCTTCTCTTCTCTTCTCTTCTCTT	C	C71132805T	MED12	NM_005120.3(MED12):c.4416-77CTCTT[7]	noncoding	Benign
X	71132767	CCTCTTCTCTTCTCTTCTCTTCTCTTCTCTT	C	C71132800T	MED12	NM_005120.3(MED12):c.4416-77CTCTT[6]	noncoding	Benign
X	71135408	CTT	C	T71135409A	MED12	NM_005120.3(MED12):c.5025+156_5025+157del	noncoding	Benign
X	71136389	C	CGGCG	A71136394G	MED12	NM_005120.3(MED12):c.5135_5138dup:p.Val1714fs	coding	Pathogenic
X	71140761	G	GCAGCAA	G71140779A	MED12	NM_005120.3(MED12):c.6177_6182ACAGCA[3]:p.Gln2075_Gln2076dup	coding	Benign/Likely_benign
X	71140797	A	ACAG	T71140819C	MED12	NM_005120.3(MED12):c.6208_6210CAG[8]:p.Gln2076dup	coding	Benign/Likely_benign
X	71141301	A	ACAGCAACACCAG	G71141322C	MED12	NM_005120.3(MED12):c.6348_6359dup:p.His2116_Gln2119dup	coding	Benign/Likely_benign
X	71147958	T	TG	T71147964G	NLGN3	NM_181303.2(NLGN3):c.214dup:p.Val72fs	coding	Pathogenic
X	71223740	TG	T	G71223742C	GJB1	NM_000166.6(GJB1):c.35del:p.Gly12fs	coding	Pathogenic
X	71223805	T	TCATGG	T71223811C	GJB1	NM_000166.6(GJB1):c.99_103dup:p.Val35fs	coding	Pathogenic
X	71223817	T	TGG	T71223820G	GJB1	NM_000166.6(GJB1):c.111_112dup:p.Val38fs	coding	Pathogenic
X	71223826	CAG	C	A71223831T	GJB1	NM_000166.6(GJB1):c.120_121AG[2]:p.Ser42fs	coding	Pathogenic
X	71223889	A	AC	A71223891C	GJB1	NM_000166.6(GJB1):c.183dup:p.Ser62fs	coding	Pathogenic
X	71224010	AGAG	A	G71224011A	GJB1	NM_000166.6(GJB1):c.304_306del:p.Glu102del	coding	Pathogenic
X	71224025	AC	A	C71224026G	GJB1	NM_000166.6(GJB1):c.319del:p.Arg107fs	coding	Pathogenic
X	71224045	A	AC	T71224051C	GJB1	NM_000166.6(GJB1):c.343dup:p.Leu115fs	coding	Pathogenic
X	71224098	CTG	C	T71224101G	GJB1	NM_000166.6(GJB1):c.392_393TG[1]:p.Trp132fs	coding	Pathogenic
X	71224101	TG	T	G71224103T	GJB1	NM_000166.6(GJB1):c.396del:p.Trp132fs	coding	Pathogenic
X	71224150	TCTT	GAACAC	T71224150G	GJB1	NM_000166.6(GJB1):c.443_446delinsGAACAC:p.Val148fs	coding	Pathogenic
X	71224172	GCT	G	C71224175A	GJB1	NM_000166.6(GJB1):c.466_467CT[1]:p.Tyr157fs	coding	Pathogenic
X	71224213	A	ACGTCTACCCCTGCCCCAACACAGTGGACTGCTTCGTGTCCCGCC	C71224259G	GJB1	NM_000166.6(GJB1):c.508_551dup:p.Thr185fs	coding	Pathogenic
X	71224229	C	CA	C71224232A	GJB1	NM_000166.6(GJB1):c.524dup:p.Asn175fs	coding	Pathogenic
X	71224262	C	CG	A71224264G	GJB1	NM_000166.6(GJB1):c.556dup:p.Glu186fs	coding	Pathogenic
X	71224282	TC	T	C71224283T	GJB1	NM_000166.6(GJB1):c.576del:p.Phe193fs	coding	Pathogenic
X	71224335	GTGTA	G	T71224336C	GJB1	NM_000166.6(GJB1):c.629_632del:p.Val210fs	coding	Pathogenic
X	71224336	TG	T	G71224337T	GJB1	NM_000166.6(GJB1):c.630del:p.Tyr211fs	coding	Pathogenic
X	71224488	GAC	G	C71224490T	GJB1	NM_000166.6(GJB1):c.783_784del:p.Ile262fs	coding	Pathogenic
X	71224490	CAT	C	T71224492C	GJB1	NM_000166.6(GJB1):c.785_786del:p.Ile262fs	coding	Pathogenic
X	71224504	GC	G	C71224507T	GJB1	NM_000166.6(GJB1):c.800del:p.Pro267fs	coding	Pathogenic
X	71224528	CT	C	T71224529G	GJB1	NM_000166.6(GJB1):c.822del:p.Glu275fs	coding	Pathogenic
X	71224548	TCGGC	T	G71224550T	GJB1	NM_000166.6(GJB1):c.843_846del:p.Cys283fs	coding	Pathogenic
X	71224549	C	CG	C71224552G	GJB1	NM_000166.6(GJB1):c.844dup:p.Ala282fs	coding	Pathogenic
X	71290742	GC	G	C71290744G	NONO	NM_007363.5(NONO):c.107del:p.Pro36fs	coding	Pathogenic
X	71291850	CTT	C	T71291854G	NONO	NM_007363.5(NONO):c.230_231del:p.Phe77fs	coding	Pathogenic
X	71291867	TC	T	C71291869T	NONO	NM_007363.5(NONO):c.245del:p.Pro82fs	coding	Pathogenic
X	71299938	T	TA	G71299941A	NONO	NM_007363.5(NONO):c.1282-2dup	noncoding	Benign
X	71299947	AC	A	C71299949A	NONO	NM_007363.5(NONO):c.1289del:p.Pro430fs	coding	Pathogenic
X	71300050	G	GC	A71300055C	NONO	NM_007363.5(NONO):c.1394dup:p.Asn466fs	coding	Pathogenic
X	71377717	C	CAGG	T71377724A	TAF1	NM_004606.5(TAF1):c.830_832AGG[3]:p.Glu278dup	coding	Benign/Likely_benign
X	71424245	AT	A	T71424248C	TAF1	NM_004606.5(TAF1):c.4753+10del	noncoding	Benign
X	72330071	GATTCCCTGC	G	T72330073A	HDAC8	NM_018486.3(HDAC8):c.1112-4_1116del	coding	Pathogenic
X	72462097	TC	T	C72462099T	HDAC8	NM_018486.2(HDAC8):c.911delG:p.Gly304Glufs	coding	Pathogenic
X	72464707	GGCTTGGT	G	G72464708A	HDAC8	NM_018486.3(HDAC8):c.755_761del:p.Tyr252fs	coding	Pathogenic
X	72464731	AC	A	C72464732T	HDAC8	NM_018486.3(HDAC8):c.738-1del	coding	Pathogenic
X	72567967	ATCGTAGC	A	T72567968C	HDAC8	NM_018486.3(HDAC8):c.352_358del:p.Ala118fs	coding	Pathogenic
X	72572083	TTCAA	T	T72572088A	HDAC8	NM_018486.3(HDAC8):c.130_133TTGA[1]:p.Ile45fs	coding	Pathogenic
X	72572089	CA	C	A72572092G	HDAC8	NM_018486.3(HDAC8):c.131del:p.Ser43_Leu44insTer	coding	Pathogenic
X	72572656	TGG	T	G72572659A	HDAC8	NM_018486.3(HDAC8):c.104_105del:p.Pro35fs	coding	Pathogenic
X	72579737	T	TAC	T72579763C	PHKA1	NM_002637.4(PHKA1):c.*1241_*1242GT[13]	noncoding	Benign
X	72580371	CAG	C	A72580376G	PHKA1	NM_002637.4(PHKA1):c.*625_*626CT[2]	noncoding	Benign
X	72667396	AG	A	G72667397C	PHKA1	NM_002637.4(PHKA1):c.695del:p.Ala232fs	coding	Pathogenic
X	74421523	A	AGGCAGC	A74421542G	SLC16A2	NM_006517.5(SLC16A2):c.-114_-109GGCAGC[4]	noncoding	Benign
X	74421523	AGGCAGC	A	G74421536A	SLC16A2	NM_006517.5(SLC16A2):c.-114_-109GGCAGC[2]	noncoding	Benign/Likely_benign
X	74421890	AC	A	C74421893G	SLC16A2	NM_006517.5(SLC16A2):c.256del:p.Arg86fs	coding	Pathogenic
X	74421993	ACT	A	C74421996G	SLC16A2	NM_006517.5(SLC16A2):c.357_358CT[1]:p.Ser120fs	coding	Pathogenic
X	74422010	TA	T	A74422011C	SLC16A2	NM_006517.5(SLC16A2):c.374del:p.Tyr125fs	coding	Pathogenic
X	74521019	ATCT	A	T74521026G	SLC16A2	NM_006517.4(SLC16A2):c.461_463delTCT:p.Phe156del	coding	Pathogenic/Likely_pathogenic
X	74521086	CG	C	G74521091C	SLC16A2	NM_006517.5(SLC16A2):c.532del:p.Ala178fs	coding	Pathogenic
X	74524476	CA	C	A74524478T	SLC16A2	NM_006517.5(SLC16A2):c.695del:p.Asn232fs	coding	Pathogenic
X	74525893	GGTGA	G	A74525897T	SLC16A2	NM_006517.5(SLC16A2):c.1170+4_1170+7del	coding	Pathogenic
X	74529316	GCTT	G	T74529321A	SLC16A2	NM_006517.5(SLC16A2):c.1276_1278TTC[1]:p.Phe427del	coding	Pathogenic
X	74529413	GC	G	C74529415A	SLC16A2	NM_006517.5(SLC16A2):c.1373del:p.Pro458fs	coding	Pathogenic
X	74529428	G	GC	A74529435C	SLC16A2	NM_006517.5(SLC16A2):c.1392dup:p.Ile465fs	coding	Pathogenic
X	74531404	GCTGTAATC	G	G74531407C	SLC16A2	NM_006517.5(SLC16A2):c.1474_1481del:p.Val492fs	coding	Pathogenic
X	74531515	CT	C	T74531516A	SLC16A2	NM_006517.5(SLC16A2):c.1583del:p.Leu528fs	coding	Pathogenic
X	74531544	AC	A	C74531546A	SLC16A2	NM_006517.5(SLC16A2):c.1613del:p.Pro538fs	coding	Pathogenic
X	74740308	C	CA	G74740310A	NEXMIF	NM_001008537.3(NEXMIF):c.4248dup:p.Gly1417fs	coding	Pathogenic
X	74740404	A	AC	A74740408C	NEXMIF	NM_001008537.3(NEXMIF):c.4152dup:p.Ser1385fs	coding	Pathogenic
X	74740481	G	GA	C74740483A	NEXMIF	NM_001008537.3(NEXMIF):c.4075dup:p.Ser1359fs	coding	Pathogenic
X	74740756	AG	A	G74740759C	NEXMIF	NM_001008537.3(NEXMIF):c.3800del:p.Pro1267fs	coding	Pathogenic
X	74740867	AG	A	G74740868C	NEXMIF	NM_001008537.3(NEXMIF):c.3689del:p.Ala1230fs	coding	Pathogenic
X	74740945	GTTACCTTTGAGGGATTT	G	A74740948T	NEXMIF	NM_001008537.3(NEXMIF):c.3595_3611del:p.Lys1199fs	coding	Pathogenic
X	74740959	A	AT	C74740966T	NEXMIF	NM_001008537.3(NEXMIF):c.3597dup:p.Ser1200fs	coding	Pathogenic
X	74740972	G	GT	C74740978T	NEXMIF	NM_001008537.3(NEXMIF):c.3584dup:p.Asn1195fs	coding	Pathogenic
X	74741098	G	GT	G74741106T	NEXMIF	NM_001008537.3(NEXMIF):c.3458dup:p.Asn1153fs	coding	Pathogenic
X	74741222	AT	A	T74741228C	NEXMIF	NM_001008537.3(NEXMIF):c.3334del:p.Ile1112fs	coding	Pathogenic
X	74741326	AG	A	G74741330T	NEXMIF	NM_001008537.3(NEXMIF):c.3230del:p.Pro1077fs	coding	Pathogenic
X	74741330	GT	G	T74741331G	NEXMIF	NM_001008537.3(NEXMIF):c.3226del:p.Thr1076fs	coding	Pathogenic
X	74741490	TGATATCATCATCGC	T	G74741491C	NEXMIF	NM_001008537.3(NEXMIF):c.3053_3066del:p.Gly1018fs	coding	Pathogenic
X	74741506	AT	A	T74741507C	NEXMIF	NM_001008537.3(NEXMIF):c.3050del:p.Asp1017fs	coding	Pathogenic
X	74741542	ATTAC	A	A74741545G	NEXMIF	NM_001008537.3(NEXMIF):c.3011_3014del:p.Ser1004fs	coding	Pathogenic
X	74741556	CAG	C	A74741561T	NEXMIF	NM_001008537.3(NEXMIF):c.2995_2996CT[2]:p.Ser1000fs	coding	Pathogenic
X	74741658	A	AT	A74741660T	NEXMIF	NM_001008537.3(NEXMIF):c.2898dup:p.Cys967fs	coding	Pathogenic
X	74741667	AAG	A	A74741670T	NEXMIF	NM_001008537.3(NEXMIF):c.2886_2887CT[1]:p.Ser963fs	coding	Pathogenic
X	74741784	C	CGAAA	C74741785G	NEXMIF	NM_001008537.3(NEXMIF):c.2772_2773insTTTC:p.Glu925fs	coding	Pathogenic
X	74741831	GC	G	C74741832T	NEXMIF	NM_001008537.3(NEXMIF):c.2725del:p.Ala909fs	coding	Pathogenic
X	74741873	GA	G	A74741875G	NEXMIF	NM_001008537.3(NEXMIF):c.2683del:p.Ser895fs	coding	Pathogenic
X	74741883	TG	T	G74741884T	NEXMIF	NM_001008537.3(NEXMIF):c.2673del:p.Asn891fs	coding	Pathogenic
X	74742098	TC	T	C74742099T	NEXMIF	NM_001008537.3(NEXMIF):c.2458del:p.Asp820fs	coding	Pathogenic
X	74742156	CA	C	A74742157G	NEXMIF	NM_001008537.3(NEXMIF):c.2400del:p.Ala801fs	coding	Pathogenic
X	74742305	TC	T	C74742307A	NEXMIF	NM_001008537.3(NEXMIF):c.2251del:p.Glu751fs	coding	Pathogenic
X	74742344	TGCCCAGCA	T	C74742347T	NEXMIF	NM_001008537.3(NEXMIF):c.2205_2212del:p.Ala736fs	coding	Pathogenic
X	74742385	A	ACTTTTAAATTTGATTTTATTGAGCACTTTCCTCT	G74742422T	NEXMIF	NM_001008537.3(NEXMIF):c.2138_2171dup:p.Ser724delinsArgGluGluSerAlaGlnTer	coding	Pathogenic
X	74742389	TTA	GT	T74742389G	NEXMIF	NM_001008537.3(NEXMIF):c.2166_2168delinsAC:p.Phe722fs	coding	Pathogenic
X	74742514	AC	A	C74742517A	NEXMIF	NM_001008537.3(NEXMIF):c.2042del:p.Gly681fs	coding	Pathogenic
X	74742525	C	CT	G74742527T	NEXMIF	NM_001008537.3(NEXMIF):c.2031dup:p.Ala678fs	coding	Pathogenic
X	74742959	CG	C	G74742962T	NEXMIF	NM_001008537.3(NEXMIF):c.1597del:p.Arg533fs	coding	Pathogenic
X	74742974	CT	C	T74742975C	NEXMIF	NM_001008537.3(NEXMIF):c.1582del:p.Arg528fs	coding	Pathogenic
X	74742989	C	CA	T74742991A	NEXMIF	NM_001008537.3(NEXMIF):c.1567dup:p.Trp523fs	coding	Pathogenic
X	74743034	TTCCTC	T	C74743037A	NEXMIF	NM_001008537.3(NEXMIF):c.1518_1522del:p.Arg507fs	coding	Pathogenic
X	74743100	AC	A	C74743101T	NEXMIF	NM_001008537.3(NEXMIF):c.1456del:p.Val486fs	coding	Pathogenic
X	74743179	TAC	T	C74743181G	NEXMIF	NM_001008537.3(NEXMIF):c.1376_1377del:p.Asp458_Cys459insTer	coding	Pathogenic
X	74743433	TC	T	C74743439A	NEXMIF	NM_001008537.3(NEXMIF):c.1123del:p.Glu375fs	coding	Pathogenic/Likely_pathogenic
X	74743433	T	TC	A74743440C	NEXMIF	NM_001008537.3(NEXMIF):c.1123dup:p.Glu375fs	coding	Pathogenic
X	74743506	T	TA	G74743508A	NEXMIF	NM_001008537.3(NEXMIF):c.1050dup:p.Lys351Ter	coding	Pathogenic
X	74743542	G	GA	G74743549A	NEXMIF	NM_001008537.3(NEXMIF):c.1014dup:p.Pro339fs	coding	Pathogenic
X	74743565	TC	T	C74743567T	NEXMIF	NM_001008537.3(NEXMIF):c.991del:p.Glu331fs	coding	Pathogenic
X	74743707	TGACA	T	A74743713C	NEXMIF	NM_001008537.3(NEXMIF):c.842_845TGTC[1]:p.Val283fs	coding	Pathogenic
X	74743749	TCTTA	T	A74743753T	NEXMIF	NM_001008537.3(NEXMIF):c.804_807del:p.Ser268fs	coding	Pathogenic
X	74743810	AG	A	G74743811C	NEXMIF	NM_001008537.3(NEXMIF):c.746del:p.Ala249fs	coding	Pathogenic
X	74743916	GC	G	C74743919T	NEXMIF	NM_001008537.3(NEXMIF):c.640del:p.Ala214fs	coding	Pathogenic
X	74743931	A	AG	A74743937G	NEXMIF	NM_001008537.3(NEXMIF):c.625dup:p.Leu209fs	coding	Pathogenic
X	74743939	G	GC	T74743942C	NEXMIF	NM_001008537.3(NEXMIF):c.617dup:p.Phe207fs	coding	Pathogenic
X	74744045	TTTAGA	T	T74744047C	NEXMIF	NM_001008537.3(NEXMIF):c.507_511del:p.Asp169fs	coding	Pathogenic
X	74744134	CT	C	T74744135G	NEXMIF	NM_001008537.3(NEXMIF):c.422del:p.Gln141fs	coding	Pathogenic
X	74744276	G	GC	A74744278C	NEXMIF	NM_001008537.3(NEXMIF):c.280dup:p.Ala94fs	coding	Pathogenic
X	74744373	TG	T	G74744376A	NEXMIF	NM_001008537.3(NEXMIF):c.183del:p.Arg62fs	coding	Pathogenic
X	75060439	G	GT	A75060449T	ABCB7	NM_001271696.3(ABCB7):c.1936-118dup	noncoding	Benign
X	75065161	TG	CA	T75065161C	ABCB7	NM_001271696.3(ABCB7):c.1739_1740inv:p.Ala580Val	coding	Benign
X	75431524	T	TA	T75431536A	ZDHHC15	NM_144969.3(ZDHHC15):c.380-15dup	noncoding	Benign
X	75478992	TA	T	A75479002T	ZDHHC15	NM_144969.3(ZDHHC15):c.164-8del	noncoding	Benign
X	77508435	AC	A	C77508437A	ATRX	NM_000489.5(ATRX):c.7394del:p.Gly2465fs	coding	Pathogenic
X	77508462	CAT	C	A77508465C	ATRX	NM_000489.5(ATRX):c.7364_7365AT[1]:p.Met2456fs	coding	Pathogenic/Likely_pathogenic
X	77508624	GA	G	A77508625T	ATRX	NM_000489.5(ATRX):c.7205del:p.Ile2402fs	coding	Pathogenic
X	77599584	A	AAAAC	A77599608C	ATRX	NM_000489.5(ATRX):c.5787-24GTTT[6]	noncoding	Benign
X	77599584	AAAAC	A	C77599604A	ATRX	NM_000489.5(ATRX):c.5787-24GTTT[4]	noncoding	Benign/Likely_benign
X	77599826	GA	G	A77599835T	ATRX	NM_000489.5(ATRX):c.5698-7del	noncoding	Benign
X	77599826	G	GA	T77599836A	ATRX	NM_000489.5(ATRX):c.5698-15dup	noncoding	Benign
X	77652291	TTCC	T	C77652306T	ATRX	NM_000489.5(ATRX):c.4365_4367GGA[4]:p.Glu1464del	coding	Benign/Likely_benign
X	77663382	CCTTT	C	T77663386C	ATRX	NM_000489.6(ATRX):c.4116_4119del:p.Arg1372_Lys1373insTer	coding	Pathogenic
X	77683517	GC	G	C77683518T	ATRX	NM_000489.5(ATRX):c.1738del:p.Ala580fs	coding	Pathogenic
X	77693830	GT	G	T77693836G	ATRX	NM_138270.4(ATRX):c.370+2746del	coding	Pathogenic
X	77693834	TTTGAGATTTTC	A	T77693834A	ATRX	NM_138270.4(ATRX):c.370+2732_370+2743delinsT	coding	Pathogenic
X	77853891	AAAAGGATACT	A	G77853895C	MAGT1	NM_001367916.1(MAGT1):c.826_826+9del	noncoding	Pathogenic
X	77855582	CACAAA	C	A77855586C	MAGT1	NM_001367916.1(MAGT1):c.676_680del:p.Phe226fs	coding	Pathogenic
X	77856763	A	ATC	A77856764T	MAGT1	NM_001367916.1(MAGT1):c.641_642insGA:p.Phe214fs	coding	Pathogenic
X	77857385	CG	C	G77857388C	MAGT1	NM_001367916.1(MAGT1):c.502del:p.Arg168fs	coding	Pathogenic
X	77857428	A	AT	G77857430T	MAGT1	NM_001367916.1(MAGT1):c.459dup:p.Tyr154fs	coding	Pathogenic
X	77870849	C	CA	T77870856A	MAGT1	NM_001367916.1(MAGT1):c.348dup:p.Ala117fs	coding	Pathogenic
X	77895440	CTT	C	T77895442G	MAGT1	NM_032121.5(MAGT1):c.65_66del:p.Lys22fs	coding	Pathogenic
X	77905212	AC	A	C77905214T	COX7B	NM_001866.3(COX7B):c.196del:p.Leu66fs	coding	Pathogenic
X	77971671	T	TA	C77971673A	ATP7A	NM_000052.7(ATP7A):c.31dup:p.Thr11fs	coding	Pathogenic
X	77988528	CCAATCAGA	C	C77988529T	ATP7A	NM_000052.7(ATP7A):c.408_415del:p.Asn137fs	coding	Pathogenic
X	77988540	AAG	A	A77988543C	ATP7A	NM_000052.7(ATP7A):c.420_421AG[1]:p.Glu141fs	coding	Pathogenic
X	77988571	TG	T	G77988574A	ATP7A	NM_000052.7(ATP7A):c.453del:p.Thr152fs	coding	Pathogenic
X	77988582	A	AG	A77988584G	ATP7A	NM_000052.7(ATP7A):c.462dup:p.Lys155fs	coding	Pathogenic
X	77989497	TG	T	G77989498T	ATP7A	NM_000052.7(ATP7A):c.876del:p.Ser293fs	coding	Pathogenic
X	77989640	C	CCGGGG	T77989647G	ATP7A	NM_000052.7(ATP7A):c.1020_1024dup:p.Leu342fs	coding	Pathogenic
X	77989821	CA	C	A77989827G	ATP7A	NM_000052.7(ATP7A):c.1205del:p.Lys402fs	coding	Pathogenic
X	77989894	AC	A	C77989895T	ATP7A	NM_000052.7(ATP7A):c.1273del:p.Leu424_Leu425insTer	coding	Pathogenic
X	77998495	GT	G	T77998496A	ATP7A	NM_000052.7(ATP7A):c.1355del:p.Val452fs	coding	Pathogenic
X	78003194	GAT	G	T78003196G	ATP7A	NM_000052.7(ATP7A):c.1667_1668del:p.Ile556fs	coding	Pathogenic
X	78003236	TGTAA	T	T78003242A	ATP7A	NM_000052.7(ATP7A):c.1707+6_1707+9del	coding	Pathogenic
X	78011474	C	CTGTT	T78011480G	ATP7A	NM_000052.7(ATP7A):c.1974_1977dup:p.Phe660fs	coding	Pathogenic
X	78011478	T	TTTTCTGTATTCCTGTAATGGGGCTGATGATA	A78011511T	ATP7A	NM_000052.7(ATP7A):c.1978_2008dup:p.Tyr670fs	coding	Pathogenic
X	78012951	C	CTGAT	T78012958A	ATP7A	NM_000052.7(ATP7A):c.2248_2251dup:p.Val751fs	coding	Pathogenic
X	78013007	TG	T	G78013008C	ATP7A	NM_000052.7(ATP7A):c.2302del:p.Ala768fs	coding	Pathogenic
X	78013101	CATATAGCAAA	AGCATC	C78013101A	ATP7A	NM_000052.7(ATP7A):c.2395_2405delinsAGCATC:p.His799fs	coding	Pathogenic
X	78013111	AGG	T	A78013111T	ATP7A	NM_000052.7(ATP7A):c.2405_2406+1delinsT	coding	Pathogenic
X	78014721	TG	T	G78014722T	ATP7A	NM_000052.7(ATP7A):c.2467del:p.Ile822_Val823insTer	coding	Pathogenic
X	78015751	C	CAGTGAAG	A78015760G	ATP7A	NM_000052.7(ATP7A):c.2499-1_2504dup	noncoding	Pathogenic
X	78020261	G	GC	T78020263C	ATP7A	NM_000052.7(ATP7A):c.2645dup:p.Ala882_Lys883insTer	coding	Pathogenic
X	78020279	AC	A	C78020280A	ATP7A	NM_000052.7(ATP7A):c.2663del:p.Thr888fs	coding	Pathogenic
X	78020308	CG	C	G78020311T	ATP7A	NM_000052.7(ATP7A):c.2694del:p.Ser899fs	coding	Pathogenic
X	78021079	TGTAA	T	A78021082G	ATP7A	NM_000052.7(ATP7A):c.2916+3_2916+6del	coding	Pathogenic
X	78029399	TGGCATACTAATAAAA	T	C78029402T	ATP7A	NM_000052.7(ATP7A):c.3069_3083del:p.Ile1024_Gly1028del	coding	Pathogenic
X	78031410	TG	T	G78031412T	ATP7A	NM_000052.7(ATP7A):c.3124del:p.Val1042fs	coding	Pathogenic
X	78031415	TTTGA	AGTACAGG	T78031415A	ATP7A	NM_000052.7(ATP7A):c.3127_3131delinsAGTACAGG:p.Phe1043_Asp1044delinsSerThrGly	coding	Pathogenic
X	78031537	C	CA	G78031539A	ATP7A	NM_000052.7(ATP7A):c.3250dup:p.Ser1084fs	coding	Pathogenic
X	78033649	TG	T	G78033650T	ATP7A	NM_000052.7(ATP7A):c.3340del:p.Val1114fs	coding	Pathogenic
X	78038858	TA	T	A78038861G	ATP7A	NM_000052.7(ATP7A):c.3537del:p.Val1180fs	coding	Pathogenic
X	78040706	T	ATGACTGG	T78040706A	ATP7A	NM_000052.7(ATP7A):c.3774delinsATGACTGG:p.Ser1258delinsArgTer	coding	Pathogenic
X	78040707	AA	TTAC	A78040707T	ATP7A	NM_000052.7(ATP7A):c.3775_3776delinsTTAC:p.Lys1259fs	coding	Pathogenic
X	78042696	GACTCCCC	G	C78042698G	ATP7A	NM_000052.7(ATP7A):c.3915_3921del:p.Asp1305fs	coding	Pathogenic
X	78042699	TC	T	C78042703A	ATP7A	NM_000052.7(ATP7A):c.3920del:p.Pro1307fs	coding	Pathogenic
X	78043321	ATCT	A	T78043325G	ATP7A	NM_000052.7(ATP7A):c.4011_4013TCT[1]:p.Leu1339del	coding	Pathogenic
X	78043336	TG	T	G78043338C	ATP7A	NM_000052.7(ATP7A):c.4027del:p.Ala1343fs	coding	Pathogenic
X	78045477	T	TA	T78045479A	ATP7A	NM_000052.7(ATP7A):c.4132dup:p.Met1378fs	coding	Pathogenic
X	78046416	TG	T	G78046419T	ATP7A	NM_000052.7(ATP7A):c.4352del:p.Gly1451fs	coding	Pathogenic
X	78118098	TGAA	T	A78118103G	PGK1	NM_000291.4(PGK1):c.571_573AAG[1]:p.Lys192del	coding	Pathogenic
X	78123234	GTC	ATG	G78123234A	PGK1	NM_000291.4(PGK1):c.796_798delinsATG:p.Val266Met	coding	Pathogenic
X	80025727	A	AGCT	T80025731G	TBX22	NM_001109878.2(TBX22):c.584_586dup:p.Phe196_Asp197insCys	coding	Pathogenic
X	80030795	TG	T	G80030800T	TBX22	NM_001109878.2(TBX22):c.1252del:p.Val418fs	coding	Pathogenic
X	80676332	CGTGT	C	G80676341C	BRWD3	NM_153252.5(BRWD3):c.*265_*266AC[4]	noncoding	Benign
X	80687100	GTATA	G	A80687120G	BRWD3	NM_153252.5(BRWD3):c.3865-119TA[9]	noncoding	Benign
X	80689783	AC	A	C80689784T	BRWD3	NM_153252.5(BRWD3):c.3791del:p.Ser1264fs	coding	Pathogenic
X	80693001	CCA	C	C80693004G	BRWD3	NM_153252.5(BRWD3):c.3198_3199TG[1]:p.Val1067fs	coding	Pathogenic
X	80704797	A	AATTT	C80704805T	BRWD3	NM_153252.5(BRWD3):c.2598_2601dup:p.Leu868fs	coding	Pathogenic
X	80735165	C	CT	G80735167T	BRWD3	NM_153252.5(BRWD3):c.946dup:p.Arg316fs	coding	Pathogenic
X	80736091	TA	T	A80736104T	BRWD3	NM_153252.5(BRWD3):c.814-4del	noncoding	Benign
X	80736091	T	TA	T80736105A	BRWD3	NM_153252.5(BRWD3):c.814-16dup	noncoding	Benign
X	80745732	G	GA	T80745740A	BRWD3	NM_153252.5(BRWD3):c.431-10dup	noncoding	Benign
X	80809700	G	GGA	T80809712A	BRWD3	NM_153252.5(BRWD3):c.-239_-238TC[6]	noncoding	Benign
X	80809736	AAG	A	A80809753G	BRWD3	NM_153252.5(BRWD3):c.-283_-282CT[8]	noncoding	Benign
X	83508570	G	GC	G83508574C	POU3F4	NM_000307.5(POU3F4):c.249dup:p.Gly84fs	coding	Pathogenic
X	83508926	TCAAA	T	C83508931G	POU3F4	NM_000307.5(POU3F4):c.603_606CAAA[1]:p.Gln203fs	coding	Pathogenic
X	83508968	TG	T	G83508972T	POU3F4	NM_000307.5(POU3F4):c.648del:p.Leu217fs	coding	Pathogenic
X	83509176	CAT	C	A83509177C	POU3F4	NM_000307.5(POU3F4):c.853_854del:p.Ile285fs	coding	Pathogenic
X	83509182	GGTGA	G	A83509186T	POU3F4	NM_000307.5(POU3F4):c.862_865del:p.Val289fs	coding	Pathogenic
X	83509218	CA	C	A83509220G	POU3F4	NM_000307.4(POU3F4):c.896delA:p.Lys299Serfs	coding	Pathogenic
X	83509272	G	GT	G83509275T	POU3F4	NM_000307.5(POU3F4):c.950dup:p.Leu317fs	coding	Pathogenic
X	83509380	GA	G	A83509384C	POU3F4	NM_000307.5(POU3F4):c.1060del:p.Thr354fs	coding	Pathogenic
X	85244123	A	AGGCGGC	A85244148G	ZNF711	NM_001330574.2(ZNF711):c.-473_-471GGC[10]	noncoding	Benign
X	85271594	AT	A	T85271596C	ZNF711	NM_021998.5(ZNF711):c.2054del:p.Phe685fs	coding	Pathogenic
X	85271666	TTG	T	T85271669A	ZNF711	NM_001330574.2(ZNF711):c.2263_2264TG[1]:p.Cys755_Glu756delinsTer	coding	Pathogenic
X	85279435	GA	G	A85279444G	POF1B	NM_024921.4(POF1B):c.1765-10del	noncoding	Benign
X	85864658	A	AGGTTTGTGCTTT	C85864671G	CHM	NM_000390.4(CHM):c.1922_1933dup:p.Leu645_Gly646insGlnSerThrAsn	coding	Benign
X	85873102	CAT	C	T85873104A	CHM	NM_000390.4(CHM):c.1718_1719del:p.Tyr573fs	coding	Pathogenic
X	85873126	T	TA	T85873128A	CHM	NM_000390.4(CHM):c.1695dup:p.Asn566Ter	coding	Pathogenic
X	85873141	T	TGTTATATGTCTGTTA	A85873143T	CHM	NM_000390.4(CHM):c.1680_1681insTAACAGACATATAAC:p.Ser561Ter	coding	Pathogenic
X	85873166	GAAGTA	G	T85873170A	CHM	NM_000390.4(CHM):c.1651_1655del:p.Tyr551fs	coding	Pathogenic
X	85878962	T	TA	C85878964A	CHM	NM_000390.4(CHM):c.1609+2dup	noncoding	Pathogenic
X	85878986	GAACA	G	A85878992T	CHM	NM_000390.4(CHM):c.1580_1583TGTT[1]:p.Val529fs	coding	Pathogenic
X	85879042	G	GATGCTGTTTAGAAGA	T85879043A	CHM	NM_000390.4(CHM):c.1531_1532insTCTTCTAAACAGCAT:p.Thr511delinsIlePheTer	coding	Pathogenic
X	85879068	TA	T	A85879078T	CHM	NM_000390.4(CHM):c.1511-6del	noncoding	Benign
X	85894260	C	CT	G85894262T	CHM	NM_000390.4(CHM):c.1437dup:p.Glu480fs	coding	Pathogenic
X	85900689	AG	A	G85900690C	CHM	NM_000390.4(CHM):c.1369del:p.Val456_Leu457insTer	coding	Pathogenic
X	85900695	GC	G	C85900698T	CHM	NM_000390.4(CHM):c.1363del:p.Ala455fs	coding	Pathogenic
X	85900699	TG	T	G85900701A	CHM	NM_000390.4(CHM):c.1359del:p.Arg454fs	coding	Pathogenic
X	85900700	GG	C	G85900700C	CHM	NM_000390.4(CHM):c.1358_1359delinsG:p.Ile452_Ser453insTer	coding	Pathogenic
X	85900700	GG	TC	G85900700T	CHM	NM_000390.4(CHM):c.1358_1359delinsGA:p.Ser453Ter	coding	Pathogenic
X	85901096	CG	C	G85901097T	CHM	NM_000390.4(CHM):c.1336del:p.Arg446fs	coding	Pathogenic
X	85901193	AAAG	A	A85901198T	CHM	NM_000390.4(CHM):c.1245-8_1245-6del	noncoding	Benign
X	85956262	C	CTATG	G85956267T	CHM	NM_000390.4(CHM):c.1053_1056dup:p.Asp353fs	coding	Pathogenic
X	85957860	TA	T	A85957861T	CHM	NM_000390.4(CHM):c.934del:p.Tyr312fs	coding	Pathogenic
X	85957927	C	CCA	T85957930C	CHM	NM_000390.4(CHM):c.866_867dup:p.Val290fs	coding	Pathogenic
X	85963706	TA	T	A85963708T	CHM	NM_000390.4(CHM):c.660del:p.Ile221fs	coding	Pathogenic
X	85963711	TGTGA	T	G85963714A	CHM	NM_000390.4(CHM):c.652_655del:p.Ser218fs	coding	Pathogenic
X	85963714	GAGTA	G	G85963720T	CHM	NM_000390.4(CHM):c.645_648TACT[1]:p.Tyr217fs	coding	Pathogenic
X	85963721	TA	T	A85963723T	CHM	NM_000390.4(CHM):c.645del:p.Thr216fs	coding	Pathogenic
X	85963801	GGC	G	G85963802A	CHM	NM_000390.4(CHM):c.564_565del:p.Pro189fs	coding	Pathogenic
X	85963840	CCT	C	C85963841G	CHM	NM_000390.4(CHM):c.525_526del:p.Glu177fs	coding	Pathogenic
X	85963867	A	AGC	A85963872G	CHM	NM_000390.4(CHM):c.496_497GC[3]:p.Leu167fs	coding	Pathogenic
X	85963926	G	GCTTA	A85963931C	CHM	NM_000390.4(CHM):c.437_440dup:p.Thr148fs	coding	Pathogenic
X	85963947	AG	A	G85963949C	CHM	NM_000390.4(CHM):c.419del:p.Pro140fs	coding	Pathogenic
X	85963968	AGCTTCTGTGGAGT	C	A85963968C	CHM	NM_000390.4(CHM):c.386_399delinsG:p.Asn129fs	coding	Pathogenic
X	85964048	CCTGA	C	G85964051A	CHM	NM_000390.3(CHM):c.315_318delTCAG:p.Ser105Argfs	coding	Pathogenic
X	85978800	GT	G	T85978804G	CHM	NM_000390.4(CHM):c.280del:p.Thr94fs	coding	Pathogenic
X	85978817	A	AAG	C85978822A	CHM	NM_000390.4(CHM):c.262_263dup:p.Ser89fs	coding	Pathogenic
X	85978844	GAT	G	A85978845C	CHM	NM_000390.4(CHM):c.235_236del:p.Ile79fs	coding	Pathogenic
X	86047486	GTCCCT	TTCCC	G86047486T	CHM	NM_000390.4(CHM):c.42_47delinsGGGAA:p.Ile14fs	coding	Pathogenic
X	86047491	T	TA	T86047493A	CHM	NM_000390.4(CHM):c.41dup:p.Gly15fs	coding	Pathogenic
X	86047502	CAT	C	A86047503C	CHM	NM_000390.4(CHM):c.29_30del:p.Asp10fs	coding	Pathogenic
X	93673115	TGCTGCTGCTGCTGCCGCTGCC	T	T93673127C	NAP1L3	NM_004538.6(NAP1L3):c.169_189del:p.Gly57_Ser63del	coding	Benign
X	100296650	T	TGGTC	C100296656G	PCDH19	NM_001184880.2(PCDH19):c.3070_3073dup:p.His1025fs	coding	Pathogenic
X	100342053	C	CT	A100342055T	PCDH19	NM_001184880.2(PCDH19):c.2697dup:p.Glu900fs	coding	Pathogenic
X	100350643	T	TA	C100350645A	PCDH19	NM_001184880.2(PCDH19):c.2675+2dup	noncoding	Pathogenic
X	100350696	GT	G	T100350700C	PCDH19	NM_001184880.2(PCDH19):c.2624del:p.Asn875fs	coding	Pathogenic
X	100402572	C	CT	G100402574T	PCDH19	NM_001184880.2(PCDH19):c.2567dup:p.Pro858fs	coding	Pathogenic
X	100402580	TGAAA	T	A100402583G	PCDH19	NM_001184880.2(PCDH19):c.2556_2559del:p.Phe853fs	coding	Pathogenic
X	100402583	AAG	A	A100402586T	PCDH19	NM_001184880.2(PCDH19):c.2553_2554CT[1]:p.Ser852fs	coding	Pathogenic
X	100402599	GTGGTTAGCAC	G	T100402604G	PCDH19	NM_001184880.2(PCDH19):c.2531_2540del:p.Ser844fs	coding	Pathogenic
X	100402665	G	GCAGCC	G100402674C	PCDH19	NM_001184880.2(PCDH19):c.2470_2474dup:p.Cys825fs	coding	Pathogenic
X	100402686	CT	C	T100402687G	PCDH19	NM_001184880.2(PCDH19):c.2453del:p.Gln818fs	coding	Pathogenic
X	100402740	GT	G	T100402742C	PCDH19	NM_001184880.2(PCDH19):c.2399del:p.Asn800fs	coding	Pathogenic
X	100402755	CT	C	T100402756C	PCDH19	NM_001184880.2(PCDH19):c.2384del:p.Glu795fs	coding	Pathogenic
X	100402798	A	AT	C100402806T	PCDH19	NM_001184880.2(PCDH19):c.2341dup:p.Ile781fs	coding	Pathogenic
X	100402798	AT	A	T100402805C	PCDH19	NM_001184880.2(PCDH19):c.2341del:p.Ile781fs	coding	Pathogenic
X	100406567	C	CA	G100406570A	PCDH19	NM_001184880.2(PCDH19):c.2030dup:p.Leu677fs	coding	Pathogenic
X	100406625	A	TAC	A100406625T	PCDH19	NM_001184880.2(PCDH19):c.1973delinsGTA:p.Val658fs	coding	Pathogenic
X	100406638	CAGAG	C	G100406644T	PCDH19	NM_001184880.2(PCDH19):c.1952_1953CT[2]:p.Ser653fs	coding	Pathogenic
X	100406638	CAG	C	G100406646T	PCDH19	NM_001184880.2(PCDH19):c.1952_1953CT[3]:p.Ser653fs	coding	Pathogenic
X	100406638	C	CAG	T100406648G	PCDH19	NM_001184880.2(PCDH19):c.1952_1953CT[5]:p.Ala654fs	coding	Pathogenic
X	100406645	A	AG	A100406647G	PCDH19	NM_001184880.2(PCDH19):c.1952dup:p.Leu652fs	coding	Pathogenic
X	100406696	G	GC	G100406697C	PCDH19	NM_001184880.2(PCDH19):c.1901_1902insG:p.Lys635fs	coding	Pathogenic
X	100406838	ACCAGGTAG	A	A100406841T	PCDH19	NM_001184880.2(PCDH19):c.1752_1759del:p.Tyr585fs	coding	Pathogenic
X	100406878	C	CGGCAGTG	C100406886G	PCDH19	NM_001184880.2(PCDH19):c.1713_1719dup:p.Glu574fs	coding	Pathogenic
X	100406901	GGGGCTGTGATGACC	G	C100406905G	PCDH19	NM_001184880.2(PCDH19):c.1683_1696del:p.Val562fs	coding	Pathogenic
X	100406921	GT	G	T100406923G	PCDH19	NM_001184880.2(PCDH19):c.1676del:p.Asn559fs	coding	Pathogenic
X	100406952	A	AC	G100406955C	PCDH19	NM_001184880.2(PCDH19):c.1645dup:p.Val549fs	coding	Pathogenic
X	100406958	G	TA	G100406958T	PCDH19	NM_001184880.2(PCDH19):c.1640delinsTA:p.Ala547fs	coding	Pathogenic
X	100406974	AG	A	G100406977A	PCDH19	NM_001184880.2(PCDH19):c.1623del:p.Ser542fs	coding	Pathogenic
X	100407043	GCAGCGCGTAGATGTCGCCTGAGTTGGGATTGATGGAGACATAGGTGAAGA	G	C100407047G	PCDH19	NM_001184880.2(PCDH19):c.1505_1554del:p.Val502fs	coding	Pathogenic
X	100407076	TG	T	G100407078A	PCDH19	NM_001184880.2(PCDH19):c.1521del:p.Ile508fs	coding	Pathogenic
X	100407076	T	TG	A100407079G	PCDH19	NM_001184880.2(PCDH19):c.1521dup:p.Ile508fs	coding	Pathogenic
X	100407114	GACGGC	G	G100407118A	PCDH19	NM_001184880.2(PCDH19):c.1479_1483del:p.Pro494fs	coding	Pathogenic
X	100407149	AC	A	C100407152A	PCDH19	NM_001184880.2(PCDH19):c.1448del:p.Gly483fs	coding	Pathogenic
X	100407149	ACCCAGGT	A	C100407151G	PCDH19	NM_001184880.2(PCDH19):c.1442_1448del:p.Asp481fs	coding	Pathogenic
X	100407175	CAGAG	C	A100407178C	PCDH19	NM_001184880.2(PCDH19):c.1417_1418CT[1]:p.Ser474fs	coding	Pathogenic
X	100407187	AG	A	G100407189C	PCDH19	NM_001184880.2(PCDH19):c.1410del:p.Tyr471fs	coding	Pathogenic
X	100407221	CT	C	T100407222G	PCDH19	NM_001184880.2(PCDH19):c.1376del:p.Gln459fs	coding	Pathogenic
X	100407289	TG	T	G100407291C	PCDH19	NM_001184880.2(PCDH19):c.1308del:p.Lys437fs	coding	Pathogenic
X	100407306	GGCAC	G	A100407309C	PCDH19	NM_001184880.2(PCDH19):c.1288_1291del:p.Val430fs	coding	Pathogenic
X	100407331	TTG	T	T100407334A	PCDH19	NM_001184880.2(PCDH19):c.1263_1264CA[1]:p.Thr422fs	coding	Pathogenic
X	100407425	A	AT	G100407428T	PCDH19	NM_001184880.2(PCDH19):c.1172dup:p.Asn391fs	coding	Pathogenic
X	100407425	AT	A	T100407427G	PCDH19	NM_001184880.2(PCDH19):c.1172del:p.Asn391fs	coding	Pathogenic
X	100407445	G	GCA	G100407451A	PCDH19	NM_001184880.2(PCDH19):c.1151_1152dup:p.Gln385fs	coding	Pathogenic
X	100407452	TC	T	C100407454A	PCDH19	NM_001184880.2(PCDH19):c.1145del:p.Gly382fs	coding	Pathogenic
X	100407463	CT	C	T100407464G	PCDH19	NM_001184880.2(PCDH19):c.1134del:p.Gly379fs	coding	Pathogenic
X	100407475	CAG	C	G100407477C	PCDH19	NM_001184880.2(PCDH19):c.1121_1122del:p.Val373_Ser374insTer	coding	Pathogenic
X	100407496	TC	T	C100407497A	PCDH19	NM_001184880.2(PCDH19):c.1101del:p.Ile368fs	coding	Pathogenic
X	100407506	C	CG	C100407514G	PCDH19	NM_001184880.2(PCDH19):c.1091dup:p.Tyr366fs	coding	Pathogenic
X	100407506	CG	C	G100407513C	PCDH19	NM_001184880.2(PCDH19):c.1091del:p.Pro364fs	coding	Pathogenic
X	100407535	GCTCA	G	C100407538G	PCDH19	NM_001184880.2(PCDH19):c.1059_1062del:p.Glu354fs	coding	Pathogenic
X	100407591	A	AC	G100407593C	PCDH19	NM_001184880.2(PCDH19):c.1006dup:p.Val336fs	coding	Pathogenic
X	100407603	AC	A	C100407605T	PCDH19	NM_001184880.2(PCDH19):c.994del:p.Val332fs	coding	Pathogenic
X	100407617	CGGGAT	GGGAA	C100407617G	PCDH19	NM_001184880.2(PCDH19):c.976_981delinsTTCCC:p.Ile326fs	coding	Pathogenic
X	100407626	AT	A	T100407628G	PCDH19	NM_001184880.2(PCDH19):c.971del:p.Asn324fs	coding	Pathogenic
X	100407631	G	GC	A100407636C	PCDH19	NM_001184880.2(PCDH19):c.966dup:p.Pro323fs	coding	Pathogenic
X	100407718	G	GCGGGT	A100407726G	PCDH19	NM_001184880.2(PCDH19):c.875_879dup:p.His294fs	coding	Pathogenic
X	100407743	C	CGT	C100407747T	PCDH19	NM_001184880.2(PCDH19):c.853_854dup:p.Glu287fs	coding	Pathogenic
X	100407750	TCGTTGACGTAGCCATAGAAGGAGTAGAC	T	G100407752A	PCDH19	NM_001184880.2(PCDH19):c.820_847del:p.Val274fs	coding	Pathogenic
X	100407756	AC	A	C100407757G	PCDH19	NM_001184880.2(PCDH19):c.841del:p.Val281fs	coding	Pathogenic
X	100407780	ACC	A	C100407781T	PCDH19	NM_001184880.2(PCDH19):c.816_817del:p.Gln272fs	coding	Pathogenic
X	100407792	GT	G	T100407793G	PCDH19	NM_001184880.2(PCDH19):c.805del:p.Thr269fs	coding	Pathogenic
X	100407829	C	CG	T100407833G	PCDH19	NM_001184880.2(PCDH19):c.768dup:p.Val257fs	coding	Pathogenic
X	100407852	TC	T	C100407853T	PCDH19	NM_001184880.2(PCDH19):c.745del:p.Glu249fs	coding	Pathogenic
X	100407910	CG	C	G100407912T	PCDH19	NM_001184880.2(PCDH19):c.687del:p.Asp230fs	coding	Pathogenic
X	100407927	AG	A	G100407929C	PCDH19	NM_001184880.2(PCDH19):c.670del:p.Ser225fs	coding	Pathogenic
X	100407938	GC	G	C100407941A	PCDH19	NM_001184880.2(PCDH19):c.659del:p.Gly220fs	coding	Pathogenic
X	100407942	AGGCGCGGCGG	A	G100407944T	PCDH19	NM_001184880.2(PCDH19):c.646_655del:p.Pro216fs	coding	Pathogenic
X	100407950	CG	C	G100407953T	PCDH19	NM_001184880.2(PCDH19):c.647del:p.Pro216fs	coding	Pathogenic
X	100407978	CG	C	G100407980A	PCDH19	NM_001184880.2(PCDH19):c.619del:p.Arg207fs	coding	Pathogenic
X	100407982	AG	A	G100407983C	PCDH19	NM_001184880.2(PCDH19):c.615del:p.Phe206fs	coding	Pathogenic
X	100408016	CT	C	T100408020C	PCDH19	NM_001184880.2(PCDH19):c.581del:p.Lys194fs	coding	Pathogenic
X	100408033	CG	C	G100408035C	PCDH19	NM_001184880.2(PCDH19):c.564del:p.Glu189fs	coding	Pathogenic
X	100408064	GA	G	A100408065T	PCDH19	NM_001184880.2(PCDH19):c.533del:p.Ile178fs	coding	Pathogenic
X	100408073	GC	G	C100408075G	PCDH19	NM_001184880.2(PCDH19):c.524del:p.Gly175fs	coding	Pathogenic
X	100408108	GC	AT	G100408108A	PCDH19	NM_001184880.2(PCDH19):c.489_490delinsAT:p.Gln164Ter	coding	Pathogenic
X	100408121	TC	T	C100408123T	PCDH19	NM_001184880.2(PCDH19):c.476del:p.Gly159fs	coding	Pathogenic
X	100408126	A	AG	T100408128G	PCDH19	NM_001184880.2(PCDH19):c.471dup:p.Ser158fs	coding	Pathogenic
X	100408203	GCTGCCGGGAAA	G	C100408207G	PCDH19	NM_001184880.2(PCDH19):c.384_394del:p.Phe129fs	coding	Pathogenic
X	100408224	T	TTG	C100408228G	PCDH19	NM_001184880.2(PCDH19):c.372_373dup:p.Asn125fs	coding	Pathogenic
X	100408353	A	AC	A100408356C	PCDH19	NM_001184880.2(PCDH19):c.244dup:p.Val82fs	coding	Pathogenic
X	100408379	G	GC	T100408380C	PCDH19	NM_001184880.2(PCDH19):c.218_219insG:p.Asp73fs	coding	Pathogenic
X	100408387	GGT	G	T100408391G	PCDH19	NM_001184880.2(PCDH19):c.207_208AC[1]:p.His70fs	coding	Pathogenic
X	100408459	GC	AA	G100408459A	PCDH19	NM_001184880.2(PCDH19):c.138_139delinsTT:p.Arg47Ter	coding	Pathogenic
X	100408462	CGT	C	G100408463C	PCDH19	NM_001184880.2(PCDH19):c.134_135del:p.Asp45fs	coding	Pathogenic
X	100408465	CT	C	T100408468G	PCDH19	NM_001184880.2(PCDH19):c.132del:p.Asp45fs	coding	Pathogenic
X	100408535	GGCGGCAGCCTGCGT	G	G100408536C	PCDH19	NM_001184880.2(PCDH19):c.49_62del:p.Thr17fs	coding	Pathogenic
X	100408561	CCAG	C	G100408573C	PCDH19	NM_001184880.2(PCDH19):c.25_27CTG[3]:p.Leu12del	coding	Benign
X	100665519	CA	C	A100665520C	SRPX2	NM_014467.3(SRPX2):c.660-16del	noncoding	Benign
X	101345993	G	GATC	A101345998T	TIMM8A	NM_004085.4(TIMM8A):c.*503_*505dup	noncoding	Benign
X	101346635	GGCCCAGGCTT	G	C101346637T	TIMM8A	NM_004085.4(TIMM8A):c.148_157del:p.Lys50fs	coding	Pathogenic
X	101348537	CA	C	A101348540G	TIMM8A	NM_004085.4(TIMM8A):c.127del:p.Cys43fs	coding	Pathogenic
X	101348548	CA	C	A101348549T	TIMM8A	NM_004085.4(TIMM8A):c.116del:p.Met39fs	coding	Pathogenic
X	101348591	AC	A	C101348593T	TIMM8A	NM_004085.4(TIMM8A):c.73del:p.Glu24_Val25insTer	coding	Pathogenic
X	101349918	GC	G	C101349919T	BTK	NM_000061.2(BTK):c.1946del:p.Ser649fs	coding	Pathogenic
X	101353317	C	CT	C101353320T	BTK	NM_000061.3(BTK):c.1784dup:p.Met596fs	coding	Pathogenic
X	101353905	C	CTA	C101353910T	BTK	NM_001287344.1(BTK):c.1813_1814TA[3]:p.Ser606fs	coding	Pathogenic
X	101354627	CACCT	TTTC	C101354627T	BTK	NM_000061.2(BTK):c.1630_1631+3delinsGAAA	noncoding	Pathogenic
X	101354676	CCAAA	C	A101354679G	BTK	NM_000061.2(BTK):c.1581_1584del:p.Cys527fs	coding	Pathogenic
X	101358662	CTGGAGTCTCTGACAATGAAACCTCCTTCTTTCCCCTGAAACAACGAAAAAGAAGCTGTCTGTAGGAGGAAG	C	A101358666T	BTK	NM_000061.3(BTK):c.895-37_928del	coding	Pathogenic
X	101360120	GA	G	A101360121C	BTK	NM_000061.3(BTK):c.806del:p.Val269fs	coding	Pathogenic/Likely_pathogenic
X	101360617	T	TA	T101360622A	BTK	NM_000061.2(BTK):c.726dup:p.Ile243fs	coding	Pathogenic
X	101360622	T	TA	T101360624A	BTK	NM_000061.3(BTK):c.721dup:p.Tyr241fs	coding	Pathogenic
X	101360663	TG	T	G101360665C	BTK	NM_000061.3(BTK):c.680del:p.Pro227fs	coding	Pathogenic
X	101360688	AC	A	C101360690T	BTK	NM_000061.3(BTK):c.655del:p.Val219fs	coding	Pathogenic
X	101360690	CT	C	T101360695C	BTK	NM_000061.2(BTK):c.653del:p.Lys218fs	coding	Pathogenic
X	101360700	TCA	T	A101360702T	BTK	NM_000061.2(BTK):c.642_643del:p.Ser214fs	coding	Pathogenic
X	101362172	C	CCTATGTAG	G101362175A	BTK	NM_000061.2(BTK):c.588_589insCTACATAG:p.Ile197fs	coding	Pathogenic
X	101362196	GA	G	A101362198G	BTK	NM_000061.3(BTK):c.564del:p.Pro190fs	coding	Pathogenic
X	101362203	C	CT	G101362210T	BTK	NM_000061.2(BTK):c.557dup:p.Pro187fs	coding	Pathogenic
X	101362605	GCTGT	G	T101362609A	BTK	NM_000061.2(BTK):c.472_475del:p.Thr158fs	coding	Pathogenic
X	101362639	TC	T	C101362641A	BTK	NM_000061.3(BTK):c.441del:p.Phe146_Trp147insTer	coding	Pathogenic
X	101369999	GT	G	T101370004G	BTK	NM_000061.2(BTK):c.389del:p.Asn130fs	coding	Pathogenic
X	101371671	GC	G	C101371672T	BTK	NM_000061.3(BTK):c.270del:p.Glu90fs	coding	Pathogenic
X	101374544	GTCTT	G	T101374548G	BTK	NM_000061.2(BTK):c.228_231del:p.Glu76fs	coding	Pathogenic
X	101374560	A	AT	C101374568T	BTK	NM_000061.2(BTK):c.215dup:p.Asn72fs	coding	Pathogenic
X	101374594	ATCT	A	T101374598C	BTK	NM_000061.3(BTK):c.176_178AGA[1]:p.Lys60del	coding	Pathogenic
X	101374614	AC	A	C101374617T	BTK	NM_000061.2(BTK):c.161del:p.Gly54fs	coding	Pathogenic
X	101375137	AACTT	A	T101375140C	BTK	NM_000061.2(BTK):c.141+3_141+6del	noncoding	Pathogenic
X	101375139	CTT	C	T101375140A	BTK	NM_000061.2(BTK):c.141+3_141+4del	noncoding	Pathogenic
X	101397811	AAAGT	A	A101397816C	GLA	NM_001199973.2(RPL36A-HNRNPH2):c.300+2359_300+2362del	coding	Pathogenic
X	101397820	CTTTTAATGACATCTGCATTGTATTTTCTAGCTGAAGCAAAACAGTGCCTGTGGGATTTATGTGACTTCTTAACCTTGAAGTCCATTCATAGAACCCTAGCTTCCTTTTCACAGGGAGGAGCTGTGTGATGAAGCAGGCAGGATTACAGGCCACTCCTTTACCCAGGGAAGCAACTGCGATGGTATAAGAGCGAGGTCCACCAATCTCCTGCCGGTTTATCATAGCTACAGCCCAGGCTAAGCCTGAGAGAGGTCGTTCCCACACTTCAAAGTTGTCTCCCTGAAAAACCAAGAAAGTGTGGTTGCTTAGCAACTAGTGATAAGTGGCCCTGTTAGTTTGGCATTCATTCTTAATGTCAGAACTATCAAGCACTTGTAGGAAAAATTAAAATGATCCTGTAGCATTATTTTGGAAATAAAGTAATGTTTCTAGCAAGAAGCTTTATTACTGATAGTAACATCAAGAGCAAGGGAAAAAAATAGATTTAGGCCCAAGACAAAGTTGGTATTGGGTATATAAAGCCATCTTAAAATATATACTCTTATTTACCTGTCTAAGCTGGTACCCTTGCTTGCCCAAGGGGTCCTGATTGATGGCAATTACGTCCTTATCCTGAAGGAGAGCTTTGGCTTGAGGGCTGATGTGTCGGAGGTCATTAGACATGAATAAAGGAGCAGCCATGATAGCCCAGAGGGCCATCTGAGTTACTTGCTGATTCCAGCTGAGGCCAAAGTTGCCAATCACTAACTGAGAAAAAGAATGAAATAATTCAAACAAGAGAGGAGGAAACATTCTTAAAGTTACCTAGATGACCCATATGGAGAAACCACTTTCCACAGCATCCTGCTCTAAGTACTCTCACATAAAGCCTCCTCCCAGGAACTTTACCTGTATTTACCTTGAATGTCAAAATAGGAAACAAGCCTACCGCAGGGTCTTGAACAAGGAGGGCTCAAGTTTTTACCATATCTGGGTCATTCCAACCCCCTGGTCCAGCAACATCAACAATTCTCTCCTGGTTAAAAGATGTCCAGTCCAAGATACTCTTTATACTTTTCCAGGAATCATCAATGTCAGCAAAATTTCGCCAGTGATTGCAGTACTGTCGGATTTCTGTATAATTGGGCTGTGAAAACAGATATGACTCTTCTGTTTACTTTCTACTAACATCCTTGTGAGATGAAAACAGTTTAAAGGAGGCACTTGTAGCCTTCTCTTGAGTTTACAGATTGAACGTCTCCATAAGGAGGTCTAAACCCTTATAATGAATTTTCACTGTAAGAAGTTTGCTTCAGAAGTAGGCCATATAACTTGAAATCCCTTAAAGTTAATTTACTTCTATAATCAGAACTAAAATGGTCTTAGTAAAATTAAAAGCTGCAAAATTACATAGGACTCCATCAAGTATTAAGAAAACTTAAATCCCAGGCATATAGTTTGTTAATGGAATAAAAAGTTTGTAGAGGCTGGGCACGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGTGGATCATCTGAGGTCAGGAGTTCGAGACAAGCCTGGCCAACATGGTGAAACCATCTCTACTAAAAATACAAAAATTAGCCAGATGTGGTAGCGCACGCCTATAATCCCAGCTACTGGGAGGCTGAGGCAAGAGAATCGCTTAAACCCGGGAGGCGGAGGTTGCAGTGAGCCGAGATGGCGCCACTGCACTCTAGCCTGGGTGACAGTGAGACTCTGTCGCAAAAAAAAAGTTTGTAGATAGGCAGGTGGGATATCAGGTTTAAGATGTTGAGAAAAAAGACTATTTTGCAGAGATAATGAGGGAATAATAGGGATTCATTCCATAAATAACTATTCAACACTTAACCATATGCGAGAGATACAGTCAAAGTCAGACAAGGTCCCTGCCCTCATGAAACTTACACTCTAGTGGGGAGACATGGTAACAAGTCAACAAATACTTCCAAATAGTGTGGAGCTCTGAGAAGAAAATTAAACAGGTTAATGTGATGAAGAATGAATGGACAGAGGGCTATTTTAAAGTAGTTAGAGAAGAACTGTCTGCATATGTGGCGTTTGGTCTGCGACTTCAATGTTAAGGAGCCCGGCCCTTTAAAAATCTTTGGGGAAGAACTGTTCTAGGCAGAAAAAAAGCAAGTGTAAAGGCCCTGGGGCAGCAATAGGCTTGCAGTGTTGAGGGACAGAAAGAAAACCAGTGTAGCCAGGGAAAGAGCCATGACCCCTTGGACTTTGGGGAGGCAGGCAAGGGCTGGATCAGTGCAGTTTGGTTTCATTCCAAGTGCAATTGGAAGCGAGTTAAGGGTTTTAAGCAGGGAACTGATGATGACATTTATATTTTTTATAACTCTGTTAAGTCTCAGGGTTTTTTTCTTTAAAAAAAAAACTGATATTTACATTTTAATATGATAACTCTAGTGCTGCTTGGAAAATAGATGGGGGTTGAGACAGAGTGGAAGCAGAGAGATCAGGTGGTCCCAGCAGTCTGGTTGAGAGCCGATAGTAGCTTGGAAGGCCAGGGTGCATGTAGTGAAGATGGAAGGAAGTGGGCTGATTCAGGAGATATTTTAGAGATACTGGTGGAAGGACTGTTGATAGACAGGACATGAATGGTGAAATAAAGGGGAAGACACAAGGATGACTTTCCAGGTGATGGTAGCTTAGGCTATAATTACAGCAGTGGGGATGGTGAGAAGTGGTTGGAACCTGGGAGAGATGGTAGGATGATAGTAAGTAACGTTGGACTTTGAAGGAGACCTTGGTTTCCTTTGTTGTCAAGTTCTATCTATCAGTACAGTTCTATTGGATTCTGGGCTCACTATCTCACCTTTTGAAAGGGCCACATATAAAGAGGCCACTCACAGGAGTACACAATGCTTCTGCCAGTCCTATTCAGGGCCAAGGACATGTGCTTATAACCTGTATGAGAAAACAATGGGTAAAATAAGGGAAAGAAATGAATTTCCAGCTGGGGCTATATATATAGTTATTTTATTTTATTTTATTTTAATTTTTTGAGATGGGGTTCAGTCTGTCATCCAGGGTGGAGTGCAGTGGTGCGATCTTGGCTCACTGCAACCTCTGTTTCCCAGGTTCAAGTGACTCTTCTGTCTCAGCTTCCCAAGTAGCTGGGATTACAGGCATGTGCCACCAAAGTCAGCTAATTTTTGTATTTTTACTAGAGATGGGGTTTCACCATGTTGGCCAGGGTGGTCTCGAACTCCTGACCTCAAGTAATCCACCCGCCTCAGCCTCCCAAAGTGCTAGGATTACAGGCATGAGCCATCATGCCCAGCTGGGGCTGTATATTTTAAGAAGAGGCTACCTGGAAGGTTCATGTTTAAACTAGCAGCAGGGACAGGCAGTTGCTCTGTGCTTAAATTGTGTAAAGTACCTCCCAGACTGCTGGGATTGTTCTGAGGAAGTAGTGCAGAGATGGTGTGTATATTGAGGAAAGGCAGGAATGAAGATGCTTCTTTCTCTGTGACCGATTGACAACCTGGACTCCCCTAAATGATGTTATAGAGAGTTACAATTACTAATTAACTCTTAGAGCCCTCTTGAATTATAAGTGCACAATATTAGCTATGGTTAGGTATGCATGGATTTTACATGAATTAATTAATTAATTAATGAACTGAAAGAGAAGAGATGGGAGCTCTGGCACATGGAGAATAATTATTTCCAGTATTGTGACAGGGTATTTAAAATTCTGAAGATTGGTTCTTTGGCTCAGCTACCATGGCCTCAAAGTTCTTTCCTTTGTGGCTAAATCTCTGGAATGAAACATTACCATCTGCCAAATTTTCCAAACTGTCACAGTAACAACCATCAAATTTTAGCAGATCTACTCCCCAGTCAGCAAAGGTCTGGGCATCAATGTCGTAGTATCCAAAACTCCCAGGGAAGCCTGCGCAGGTTTTATTTCCAACATCTGCATAAATCCCTAGCTTCAGTCCTTTGCTGTGAACCTGAAATGAGAGGGAGGAAAAGAGTCACCATTGTAGAAGCACAATCGTGAGGTAGCAGAAAGAGAGAACCATTCCAGGCTGGGGGAAGAGACAAGGTTACTTCACCAGGTATTGGGGGCTTTTCCCCACAAACCCCCAAAATCATCCAGATGAGTTTGTTGGAAGACAAAGAATAAATCCCCCAGTTCTGCTGAGCTAGTTCAAACTAGGCATGTGAGCTATAGCCCAGAACTGAGGAGAAAGCTAGCAGCCATGCTAATCTTCCTGATGGGATCCTGAAAATTACCTTTTGAGGGAAATGATAGATTTACCTTGACAAAGACTCTTCTTGACCAAACTTTAGTTAGACTTCTCTGATGAGCCTTCTTTTCGACTAGACCTCCACCTTGGCTTCCTATGTCTGTCCTAGCAAGACCTCTTAGCAAGAATCCTGCTAAGTCAATACTGCCACCATTGATATCTGATCAATTTCCCTCATCCCCCACCCTTCTTGTTTAAGTACATGAAGCTTTAGCAAGAAGCTCCCTACCCT	C	T101397822G	GLA	NM_000169.3(GLA):c.370-532_1278del	coding	Pathogenic
X	101397862	CAG	C	A101397863T	GLA	NM_000169.2(GLA):c.1235_1236del:p.Thr412fs	coding	Pathogenic
X	101397884	ACTT	A	C101397888A	GLA	NM_001199973.2(RPL36A-HNRNPH2):c.300+2431_300+2433del	coding	Pathogenic
X	101397910	AG	A	G101397911A	GLA	NM_001199973.2(RPL36A-HNRNPH2):c.300+2454del	coding	Pathogenic
X	101397922	TCCTTTTCACAGGGAGGAGCTGTGTGATGAAGCAGGCAGGATTACAGGCCACTC	T	C101397924T	GLA	NM_001199973.2(RPL36A-HNRNPH2):c.300+2467_300+2519del	coding	Pathogenic
X	101397932	AG	A	G101397935A	GLA	NM_001199973.2(RPL36A-HNRNPH2):c.300+2478del	coding	Pathogenic
X	101397949	TGAA	T	A101397951C	GLA	NM_001199973.2(RPL36A-HNRNPH2):c.300+2494_300+2496del	coding	Pathogenic
X	101397958	CAGGATTACAGGCCACT	C	A101397959C	GLA	NM_001199973.2(RPL36A-HNRNPH2):c.300+2502_300+2517del	coding	Pathogenic
X	101398021	CA	C	A101398023T	GLA	NM_001199973.2(RPL36A-HNRNPH2):c.300+2566del	coding	Pathogenic
X	101398024	TCTC	T	C101398027G	GLA	NM_000169.2(GLA):c.1072_1074del:p.Glu358del	coding	Pathogenic
X	101398040	CAT	C	T101398042G	GLA	NM_001199973.2(RPL36A-HNRNPH2):c.300+2585_300+2586del	coding	Pathogenic/Likely_pathogenic
X	101398042	TAG	T	A101398043C	GLA	NM_001199973.2(RPL36A-HNRNPH2):c.300+2586_300+2587del	coding	Pathogenic
X	101398058	T	TA	G101398061A	GLA	NM_000169.3(GLA):c.1040dup:p.Leu347fs	coding	Pathogenic
X	101398061	GC	G	C101398063T	GLA	NM_001199973.2(RPL36A-HNRNPH2):c.300+2606del	coding	Pathogenic
X	101398064	TGA	T	A101398070G	GLA	NM_001199973.2(RPL36A-HNRNPH2):c.300+2608GA[2]	coding	Pathogenic
X	101398064	T	TGAGA	G101398072A	GLA	NM_000169.3(GLA):c.1031_1034dup:p.Gly346fs	coding	Pathogenic
X	101398071	GGTCGTTCCCAC	G	G101398072A	GLA	NM_001199973.2(RPL36A-HNRNPH2):c.300+2615_300+2625del	coding	Pathogenic
X	101398075	GT	G	T101398077C	GLA	NM_001199973.2(RPL36A-HNRNPH2):c.300+2620del	coding	Pathogenic
X	101398079	C	CT	C101398080T	GLA	NM_000169.2(GLA):c.1019_1020insA:p.Trp340Ter	coding	Pathogenic/Likely_pathogenic
X	101398369	CCTGT	C	G101398372A	GLA	NM_001199973.2(RPL36A-HNRNPH2):c.300+2915_300+2918del	coding	Pathogenic
X	101398374	C	CT	A101398376T	GLA	NM_000169.3(GLA):c.994dup:p.Arg332fs	coding	Pathogenic
X	101398406	CTGAT	C	T101398411G	GLA	NM_001199973.2(RPL36A-HNRNPH2):c.300+2954_300+2957del	coding	Pathogenic
X	101398414	T	TGGCAA	T101398420G	GLA	NM_000169.3(GLA):c.950_954dup:p.Ile319fs	coding	Pathogenic
X	101398489	AA	GATT	A101398489G	GLA	NM_001199973.2(RPL36A-HNRNPH2):c.300+3032_300+3033delinsGATT	coding	Pathogenic
X	101398520	C	CT	G101398522T	GLA	NM_001199973.2(RPL36A-HNRNPH2):c.300+3064dup	coding	Pathogenic/Likely_pathogenic
X	101398524	GTTA	G	T101398525C	GLA	NM_001199973.2(RPL36A-HNRNPH2):c.300+3068_300+3070del	coding	Pathogenic
X	101398562	CACTA	C	A101398566G	GLA	NM_001199973.2(RPL36A-HNRNPH2):c.300+3109_300+3112del	coding	Pathogenic
X	101398568	CTG	C	T101398569A	GLA	NM_000169.2(GLA):c.802-3_802-2del	noncoding	Pathogenic
X	101398785	CA	C	A101398786T	GLA	NM_001199973.2(RPL36A-HNRNPH2):c.300+3329del	coding	Pathogenic
X	101398799	T	TC	A101398802C	GLA	NM_001199973.2(RPL36A-HNRNPH2):c.300+3344dup	coding	Pathogenic
X	101398808	CT	C	T101398809G	GLA	NM_000169.2(GLA):c.777del:p.Gly261fs	coding	Pathogenic
X	101398810	GGT	G	G101398811C	GLA	NM_000169.3(GLA):c.774_775del:p.Pro259fs	coding	Pathogenic
X	101398862	T	TA	C101398864A	GLA	NM_000169.2(GLA):c.723dup:p.Ile242fs	coding	Pathogenic
X	101398866	CTT	C	T101398868A	GLA	NM_001199973.2(RPL36A-HNRNPH2):c.300+3411_300+3412del	coding	Pathogenic
X	101398922	ACT	A	C101398923G	GLA	NM_001199973.2(RPL36A-HNRNPH2):c.300+3466_300+3467del	coding	Pathogenic
X	101399798	GCT	G	C101399801G	GLA	NM_000169.3(GLA):c.640-854_640-853del	noncoding	Benign
X	101400652	GCTCA	G	C101400655A	GLA	NM_000169.3(GLA):c.639+10_639+13del	noncoding	Benign
X	101400674	AG	A	G101400677C	GLA	NM_001199973.2(RPL36A-HNRNPH2):c.300+5220del	coding	Pathogenic
X	101400681	CAT	C	T101400685A	GLA	NM_001199973.2(RPL36A-HNRNPH2):c.300+5228_300+5229del	coding	Pathogenic
X	101401682	AG	CC	A101401682C	GLA	NM_001199973.2(RPL36A-HNRNPH2):c.300+6225_300+6226delinsCC	coding	Pathogenic
X	101401885	AGGCTG	A	C101401888G	GLA	NM_000169.2(GLA):c.370-81_370-77del	noncoding	Benign
X	101403815	TTAGC	T	A101403821G	GLA	NM_001199973.2(RPL36A-HNRNPH2):c.301-8115_301-8112del	coding	Pathogenic
X	101403884	TG	T	G101403888A	GLA	NM_000169.2(GLA):c.295del:p.Gln99fs	coding	Pathogenic/Likely_pathogenic
X	101403884	T	TG	A101403889G	GLA	NM_001199973.2(RPL36A-HNRNPH2):c.301-8048dup	coding	Pathogenic
X	101403903	C	CATCA	G101403910C	GLA	NM_000169.3(GLA):c.273_276dup:p.Asp93Ter	coding	Pathogenic
X	101403914	AG	A	G101403916T	GLA	NM_001199973.2(RPL36A-HNRNPH2):c.301-8020del	coding	Pathogenic
X	101407766	GTGCAGCCAGCCCA	G	C101407769G	GLA	NM_001199973.2(RPL36A-HNRNPH2):c.301-4167_301-4155del	coding	Pathogenic
X	101407775	GC	G	C101407778A	GLA	NM_000169.2(GLA):c.128del:p.Gly43fs	coding	Pathogenic/Likely_pathogenic
X	101407818	G	GC	A101407823C	GLA	NM_000169.3(GLA):c.85dup:p.Ala29fs	coding	Pathogenic
X	101407819	CCCCAGGGATGTCCCAGGAAACGAGGG	C	C101407822A	GLA	NM_001199973.2(RPL36A-HNRNPH2):c.301-4114_301-4089del	coding	Pathogenic
X	101407823	AG	A	G101407826A	GLA	NM_001199973.2(RPL36A-HNRNPH2):c.301-4110del	coding	Pathogenic
X	101407831	C	CCCAGGAAACGAGGG	G101407853A	GLA	NM_001199973.2(RPL36A-HNRNPH2):c.301-4097_301-4084dup	coding	Pathogenic/Likely_pathogenic
X	101407849	GGAAGC	G	A101407856C	GLA	NM_001199973.2(RPL36A-HNRNPH2):c.301-4080_301-4076del	coding	Pathogenic
X	101407860	G	GCAAGCGCGCAGCC	G101407876A	GLA	NM_000169.3(GLA):c.31_43dup:p.Ala15fs	coding	Pathogenic
X	101407877	AT	A	T101407878G	GLA	NM_001199973.2(RPL36A-HNRNPH2):c.301-4058del	coding	Pathogenic
X	102715243	AGGCCCAGGCATG	A	G102715251A	GPRASP2	NM_138437.6(GPRASP2):c.382_393del:p.Ala128_Gln131del	coding	Benign
X	102716586	GC	AA	G102716586A	GPRASP2	NM_138437.6(GPRASP2):c.1717_1718delinsAA:p.Ala573Asn	coding	Pathogenic
X	103776997	TG	T	G103777000T	PLP1	NM_000533.5(PLP1):c.4+1del	coding	Pathogenic
X	103781981	AG	A	G103781984A	PLP1	NM_000533.5(PLP1):c.5-3598del	noncoding	Benign
X	103783933	G	GTATATATACATATATTTA	C103783964T	PLP1	NM_000533.5(PLP1):c.5-1636_5-1619dup	noncoding	Benign
X	103786626	CAG	C	A103786627G	PLP1	NM_000533.5(PLP1):c.354_355del:p.Gly120fs	coding	Pathogenic
X	103786656	GCCAACATCAA	G	C103786657G	PLP1	NM_000533.5(PLP1):c.384_393del:p.Gln129fs	coding	Pathogenic
X	103786688	TGTC	AGT	T103786688A	PLP1	NM_000533.5(PLP1):c.415_418delinsAGT:p.Cys139fs	coding	Pathogenic
X	103788486	TC	T	C103788487T	PLP1	NM_000533.5(PLP1):c.673del:p.Leu225fs	coding	Pathogenic
X	103789348	C	CTGCAGTTCCAAATG	A103789349T	PLP1	NM_000533.5(PLP1):c.712_713insTGCAGTTCCAAATG:p.His238fs	coding	Pathogenic/Likely_pathogenic
X	103790220	G	GC	A103790224C	PLP1	NM_000533.5(PLP1):c.763-304dup	noncoding	Benign
X	107222767	CAGGTGGG	C	G107222769A	DNAAF6	NM_173494.2(DNAAF6):c.357_363del:p.Val120fs	coding	Pathogenic
X	107915993	CT	C	T107915998C	MID2	NM_012216.3(MID2):c.1074-8delT	noncoding	Benign/Likely_benign
X	107924352	AT	A	T107924354C	MID2;LOC101928335	NM_012216.4(MID2):c.1447del:p.Ser483fs	coding	Pathogenic
X	108440126	ATG	A	T108440127A	COL4A5	NM_033380.3(COL4A5):c.2_3del:p.Met1fs	coding	Pathogenic
X	108440161	G	GTTCT	A108440167T	COL4A5	NM_033380.3(COL4A5):c.38_41dup:p.Leu14fs	coding	Pathogenic
X	108440173	CCT	C	C108440174G	COL4A5	NM_033380.3(COL4A5):c.49_50del:p.Leu17fs	coding	Pathogenic
X	108440186	GGGCAGCCTGCAGA	G	A108440190T	COL4A5	NM_000495.5(COL4A5):c.65_77del:p.Gln22fs	coding	Pathogenic
X	108539782	TG	T	G108539783C	COL4A5	NM_033380.3(COL4A5):c.119del:p.Cys40fs	coding	Pathogenic
X	108559108	T	TG	A108559111G	COL4A5	NM_033380.3(COL4A5):c.188dup:p.Phe64fs	coding	Pathogenic
X	108559146	GA	G	A108559147C	COL4A5	NM_033380.3(COL4A5):c.225del:p.Gln76fs	coding	Pathogenic
X	108563899	AG	A	G108563902C	COL4A5	NM_033380.3(COL4A5):c.252del:p.Pro85fs	coding	Pathogenic
X	108568643	TC	T	C108568645T	COL4A5	NM_033380.3(COL4A5):c.293del:p.Pro98fs	coding	Pathogenic
X	108568661	AC	A	C108568663A	COL4A5	NM_033380.3(COL4A5):c.311del:p.Pro104fs	coding	Pathogenic
X	108568672	C	CTG	A108568676G	COL4A5	NM_033380.3(COL4A5):c.321+1_321+2dup	coding	Pathogenic
X	108568768	G	GCA	G108568769C	COL4A5	NM_033380.3(COL4A5):c.331_332insCA:p.Gly111fs	coding	Pathogenic
X	108568784	CAGGACCTCA	C	A108568788T	COL4A5	NM_033380.3(COL4A5):c.351_359del:p.Pro118_Gly120del	coding	Pathogenic
X	108568796	GTATT	ATAC	G108568796A	COL4A5	NM_033380.3(COL4A5):c.359_363delinsATAC:p.Gly120fs	coding	Pathogenic
X	108568803	CG	C	G108568805A	COL4A5	NM_033380.3(COL4A5):c.368del:p.Gly123fs	coding	Pathogenic
X	108571809	AG	A	G108571812A	COL4A5	NM_000495.4(COL4A5):c.440del:p.Gly147Aspfs	noncoding	Pathogenic
X	108571813	A	AC	T108571819C	COL4A5	NM_033380.3(COL4A5):c.446dup:p.Gly150fs	coding	Pathogenic
X	108571813	AC	A	C108571818T	COL4A5	NM_033380.3(COL4A5):c.446del:p.Pro149fs	coding	Pathogenic
X	108571834	GAAGGT	G	G108571838C	COL4A5	NM_000495.5(COL4A5):c.465+1_465+5del	coding	Pathogenic
X	108573582	AG	A	G108573584T	COL4A5	NM_033380.3(COL4A5):c.476del:p.Gly159fs	coding	Pathogenic
X	108573639	TC	T	C108573641T	COL4A5	NM_033380.3(COL4A5):c.533del:p.Pro178fs	coding	Pathogenic
X	108573650	TACAAGTA	T	C108573652G	COL4A5	NM_033380.3(COL4A5):c.544_546+4del	coding	Pathogenic
X	108573655	G	GT	A108573657T	COL4A5	NM_033380.3(COL4A5):c.546+2dup	noncoding	Pathogenic
X	108573657	A	AT	A108573658T	COL4A5	NM_033380.3(COL4A5):c.546+3_546+4insT	noncoding	Pathogenic
X	108575908	A	AG	C108575912G	COL4A5	NM_000495.4(COL4A5):c.547dup:p.Leu184Profs	noncoding	Pathogenic
X	108575911	G	GC	T108575914C	COL4A5	NM_033380.3(COL4A5):c.550dup:p.Leu184fs	coding	Pathogenic
X	108575921	T	TCC	A108575925C	COL4A5	NM_033380.3(COL4A5):c.560_561dup:p.Thr188fs	coding	Pathogenic
X	108575929	GTA	G	T108575932C	COL4A5	NM_033380.3(COL4A5):c.567_568TA[1]:p.Ile190fs	coding	Pathogenic
X	108575935	C	CAG	G108575938A	COL4A5	NM_033380.3(COL4A5):c.573_574dup:p.Gly192fs	coding	Pathogenic
X	108575948	TC	T	C108575953A	COL4A5	NM_033380.3(COL4A5):c.590del:p.Pro197fs	coding	Pathogenic
X	108575956	G	GA	C108575958A	COL4A5	NM_033380.3(COL4A5):c.594dup:p.Pro199fs	coding	Pathogenic
X	108577949	TAGGGCCCTCCTGGTCCACC	T	G108577953A	COL4A5	NM_000495.4(COL4A5):c.610_628del:p.Gly204Aspfs	noncoding	Pathogenic
X	108577952	GGC	G	G108577953C	COL4A5	NM_033380.3(COL4A5):c.611_612del:p.Gly204fs	coding	Pathogenic
X	108577975	TC	T	C108577977A	COL4A5	NM_033380.3(COL4A5):c.635del:p.Pro212fs	coding	Pathogenic
X	108578065	CTT	C	T108578066C	COL4A5	NM_033380.3(COL4A5):c.646-12_646-11del	noncoding	Pathogenic
X	108578076	A	AG	A108578081G	COL4A5	NM_000495.4(COL4A5):c.648dup:p.Asn217Glufs	noncoding	Pathogenic
X	108578076	A	AGG	A108578081G	COL4A5	NM_000495.4(COL4A5):c.647_648dup:p.Asn217Glyfs	noncoding	Pathogenic
X	108578114	GA	G	A108578119G	COL4A5	NM_033380.3(COL4A5):c.687del:p.Gly230fs	coding	Pathogenic
X	108578289	AG	A	G108578292T	COL4A5	NM_000495.4(COL4A5):c.689del:p.Gly230Valfs	noncoding	Pathogenic
X	108578361	TAG	T	A108578364T	COL4A5	NM_033380.3(COL4A5):c.759_760AG[1]:p.Glu254fs	coding	Pathogenic
X	108580531	AGGGACTT	A	G108580532C	COL4A5	NM_033380.3(COL4A5):c.781-1_786delGGGACTT:p.?	noncoding	Pathogenic
X	108580538	TC	T	C108580540T	COL4A5	NM_033380.3(COL4A5):c.788del:p.Pro263fs	coding	Pathogenic
X	108580550	A	AG	C108580554G	COL4A5	NM_033380.3(COL4A5):c.801dup:p.Pro268fs	coding	Pathogenic
X	108580562	AC	A	C108580564T	COL4A5	NM_033380.3(COL4A5):c.812del:p.Pro271fs	coding	Pathogenic
X	108580708	GA	G	A108580710G	COL4A5	NM_033380.3(COL4A5):c.863del:p.Lys288fs	coding	Pathogenic
X	108580710	AG	A	G108580713T	COL4A5	NM_033380.3(COL4A5):c.866del:p.Gly289fs	coding	Pathogenic
X	108580718	CA	C	A108580720G	COL4A5	NM_033380.3(COL4A5):c.873del:p.Gly292fs	coding	Pathogenic
X	108580720	AG	A	G108580722A	COL4A5	NM_000495.5(COL4A5):c.875del:p.Gly292fs	coding	Pathogenic
X	108581024	TC	T	C108581026T	COL4A5	NM_000495.5(COL4A5):c.935del:p.Pro312fs	coding	Pathogenic
X	108582891	C	CT	G108582893T	COL4A5	NM_033380.3(COL4A5):c.945dup:p.Gly316fs	coding	Pathogenic
X	108584525	TGTAA	T	A108584528T	COL4A5	NM_033380.3(COL4A5):c.1032+3_1032+6del	coding	Pathogenic
X	108584530	GT	G	T108584542A	COL4A5	NM_033380.3(COL4A5):c.1032+17del	noncoding	Benign
X	108586590	AT	A	T108586600C	COL4A5	NM_033380.3(COL4A5):c.1033-15del	noncoding	Benign
X	108586640	T	TA	C108586643A	COL4A5	NM_000495.5(COL4A5):c.1060dup:p.Thr354fs	coding	Pathogenic
X	108586643	C	CT	A108586645T	COL4A5	NM_000495.5(COL4A5):c.1062dup:p.Ile355fs	coding	Pathogenic
X	108586647	AGGAGAAAAAGGAAACATTGGGTTGCCTGGGTTGCCT	A	A108586660G	COL4A5	NM_033380.3(COL4A5):c.1078_1113del:p.Asn360_Gly371del	coding	Pathogenic
X	108586651	GA	G	A108586656G	COL4A5	NM_033380.3(COL4A5):c.1074del:p.Gly359fs	coding	Pathogenic
X	108586655	A	AC	A108586656C	COL4A5	NM_033380.3(COL4A5):c.1073_1074insC:p.Lys358fs	coding	Pathogenic
X	108586664	TTGGGTTGCC	T	G108586677A	COL4A5	NM_033380.3(COL4A5):c.1086_1094GTTGCCTGG[1]:p.363_365LPG[1]	coding	Benign
X	108586713	AATACAGG	A	A108586714G	COL4A5	NM_033380.3(COL4A5):c.1132_1138del:p.Ile378fs	coding	Pathogenic
X	108591067	T	TTA	G108591071A	COL4A5	NM_033380.3(COL4A5):c.1177_1178dup:p.Met393fs	coding	Pathogenic
X	108591070	TG	T	G108591073T	COL4A5	NM_033380.3(COL4A5):c.1181del:p.Gly394fs	coding	Pathogenic
X	108591102	G	GA	G108591106A	COL4A5	NM_000495.5(COL4A5):c.1213dup:p.Arg405fs	coding	Pathogenic
X	108591105	A	AGGGG	T108591110G	COL4A5	NM_033380.3(COL4A5):c.1214_1217dup:p.Gln407fs	coding	Pathogenic
X	108591106	G	GA	G108591107A	COL4A5	NM_033380.3(COL4A5):c.1214_1215insA:p.Gln407fs	coding	Pathogenic
X	108591131	ACCTGGAATTTCCATTCCTGGACCT	A	A108591138C	COL4A5	NM_033380.3(COL4A5):c.1246_1269del:p.Ile416_Gly423del	coding	Pathogenic
X	108591144	AT	A	T108591146C	COL4A5	NM_033380.3(COL4A5):c.1254del:p.Pro419fs	coding	Pathogenic
X	108591155	TC	T	C108591157T	COL4A5	NM_033380.3(COL4A5):c.1265del:p.Pro422fs	coding	Pathogenic
X	108591171	C	CA	G108591173A	COL4A5	NM_033380.3(COL4A5):c.1280dup:p.Pro428fs	coding	Pathogenic
X	108591176	T	TG	C108591181G	COL4A5	NM_033380.3(COL4A5):c.1288dup:p.Ala430fs	coding	Pathogenic
X	108591564	ATGAGATATG	A	G108591568A	COL4A5	NM_033380.3(COL4A5):c.1347_1355del:p.Ile450_Glu452del	coding	Pathogenic
X	108591568	GAT	G	A108591571G	COL4A5	NM_033380.3(COL4A5):c.1348_1349AT[1]:p.Ile450fs	coding	Pathogenic
X	108591586	TCCAGGCCCC	T	C108591592A	COL4A5	NM_033380.3(COL4A5):c.1371_1379del:p.455_457PPG[1]	coding	Pathogenic
X	108591591	GC	G	C108591597A	COL4A5	NM_033380.3(COL4A5):c.1376del:p.Pro459fs	coding	Pathogenic
X	108591591	G	GC	A108591598C	COL4A5	NM_000495.5(COL4A5):c.1376dup:p.Gly460fs	coding	Pathogenic
X	108591631	A	ACAAG	G108591636C	COL4A5	NM_033380.3(COL4A5):c.1411_1414dup:p.Gly472fs	coding	Pathogenic
X	108591700	G	GC	A108591702C	COL4A5	NM_033380.3(COL4A5):c.1423+57dup	noncoding	Pathogenic
X	108595506	TAGGTGACAA	T	A108595515C	COL4A5	NM_033380.2(COL4A5):c.1424-2_1430delAGGTGACAA	noncoding	Pathogenic
X	108595526	T	TG	C108595528G	COL4A5	NM_033380.3(COL4A5):c.1442dup:p.Cys481fs	coding	Pathogenic
X	108595567	T	TC	A108595569C	COL4A5	NM_033380.3(COL4A5):c.1483dup:p.Gln495fs	coding	Pathogenic
X	108597022	AAG	A	A108597023G	COL4A5	NM_033380.3(COL4A5):c.1542_1543del:p.Glu516fs	coding	Pathogenic
X	108597046	CA	C	A108597048C	COL4A5	NM_033380.3(COL4A5):c.1567del:p.Thr523fs	coding	Pathogenic
X	108597061	GATTACCAGTAAGTTTTGAGTATATTATAAAACAAAAAGAAGTAGAAGGAAGGCATTTTACACATTGATTTTCAATTATTCATATATATACACACATATACAATTTAATTTTTCCATTAAGTTGTACTTTGTTTGATTCCTTGACTCTTCCTGACTCACATGCCTCACTTGATTCAGCCCTTTGTACATTAAATGTTATTGGATGGGTTGAAGGGGTAAACTGGAGAGAAGAAAATGTTAGAAAAAAAGAAACTGATTTTCTTTTTCTCTTTCTTCTTTTTCCACTCTTTTTTCTTTTTTTCCTTACTCATTTCAGGGCATTCCA	G	A108597062G	COL4A5	NM_033380.3(COL4A5):c.1581_1596del:p.Leu528fs	coding	Pathogenic
X	108597068	AG	A	G108597069T	COL4A5	NM_033380.3(COL4A5):c.1587+1del	coding	Pathogenic
X	108597436	T	TA	T108597438A	COL4A5	NM_033380.3(COL4A5):c.1648dup:p.Ile550fs	coding	Pathogenic
X	108597441	TC	T	C108597442A	COL4A5	NM_033380.3(COL4A5):c.1653del:p.Thr552fs	coding	Pathogenic
X	108597441	T	TTC	C108597442T	COL4A5	NM_033380.3(COL4A5):c.1652_1653insTC:p.Thr552fs	coding	Pathogenic
X	108597526	ACAGGATGGATTGCCAGGGCTTCCTGGCCCGAAAGGAGAGCCTGTGAGTTGGTTTGATATTTTTGGTTTTGTGATGTTAAATTTTCACTTAGAAATGTTTTCTAAGTTAATTCAAAGGATGGGACTGATGCTGAGATAAACACCCAATCAATGCTTAAAACAATGTGACCATACAGTAATGGCACATTGTTACTGACTACGTAGGGTTTCTGCACTACTCTTTTCTTTCACTTGTTTTGTAAACTTATTTTTCTTAACCCATTAATATTGAATACTATTTTCTATGAATAGGTGGGCAGGAGGTTAAGATGTTTATGAGACAGTATAAGGTTCCCCATCTCTTAACCCCCACATATCTTTCCTTGGGTTTACTTAAACCTCATGACTGGGCATGGTGGCTCACACCTGTAATCCCAGCACTTTGCGAGGCTGAGGTGGGCGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAAAACACAAAAATTAGCCGGGCATGGTGGTGGGCGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCCGGGAGGCGGAGGTTGCAGTGAGCCGAGATTGCACCACTGCACTCCACCCTGGGCAACAAGAGCAAAACTCCATCACAATAAATTAAATAAATAAATAAATAAATAAACCTCATAACCAGCAGTTTAACTTGTTTCTATATATATAGTAAGCTTAGAGAATAGTACAAGTAGATAGCCATGTTCAATGTGCCACAGAACTGAAAGATTTAACATAAATGAACAATCTTATTTTGTACATAACACACAGCCCAGGATATTTAGGTAGGAAGTGATATTTTATAATGTTATCTAGACTATAACCTTTCTGACTTACACTAAAATGTAAGCTGCATAAAGTCAGAGATTTTTGTGTATTTTTGTTTTCTGTTGTATCACCAGCACTTGACACATAGTAGGAGCCCAAAAATATTTGTTGGAGGAATGAGTAAGTGGAATGATCACACATACCATCTCATAATACCACTCACTTATATAGCTTTTAAGAAGAACTATTTATGGCTATATCCTTTCCCCAGTTGTATTCAGTACCAACCTACAGATAGTTGTTGTATCTATATGTTTCTGTATTAAACTTTTCCCTTTTTAGGGTGGAATTACTTTTAAGGGTGAAAGAGGTCCCCCTGGGAACCCAGGTTTACCAGGCCTCCCAGGGAATATAGGGCCTATGGGTCCCCCTGGTTTCGGCCCTCCAGGCCCAGTAGGTGAAAAAGGCATACAAGGTGTGGCAGGAAATCCAGGCCAGCCAGGAATACCAGGTAAGTTTACTGTGTTTTGTTTTAAACTTGGTGCTTAAAAACAGAAATTTATTATGTTTTGGCTACTCATGGCTTCCTTTCCCGAGAGGTGTGTTTC	A	A108597528C	COL4A5	NM_033380.3(COL4A5):c.1739_1948+98del	coding	Pathogenic
X	108597545	CTTCCTGGCCCGAAA	C	T108597546G	COL4A5	NM_000495.5(COL4A5):c.1757_1770del:p.Leu586fs	coding	Pathogenic
X	108598736	CT	C	T108598737G	COL4A5	NM_033380.3(COL4A5):c.1815del:p.Asn607fs	coding	Pathogenic
X	108598763	CAGGGAATAT	C	A108598768C	COL4A5	NM_033380.3(COL4A5):c.1846_1854del:p.Asn616_Gly618del	coding	Pathogenic
X	108598790	CT	C	T108598791G	COL4A5	NM_000495.5(COL4A5):c.1869del:p.Gly624fs	coding	Pathogenic
X	108598819	GA	G	A108598824G	COL4A5	NM_033380.3(COL4A5):c.1902del:p.Gly635fs	coding	Pathogenic
X	108601400	AG	A	G108601404A	COL4A5	NM_033380.3(COL4A5):c.1960del:p.Asp654fs	coding	Pathogenic
X	108601417	CTA	C	T108601420A	COL4A5	NM_033380.3(COL4A5):c.1974_1975TA[1]:p.Ile659fs	coding	Pathogenic
X	108601429	CG	C	G108601433A	COL4A5	NM_033380.3(COL4A5):c.1989del:p.Lys664fs	coding	Pathogenic
X	108601433	GAAGCCTGGCTTGCCTGGT	G	G108601436C	COL4A5	NM_033380.3(COL4A5):c.1992_2009del:p.Lys664_Gly669del	coding	Pathogenic
X	108601461	AG	A	G108601462A	COL4A5	NM_033380.3(COL4A5):c.2018del:p.Arg673fs	coding	Pathogenic
X	108601474	TAGGTCTTC	T	A108601475C	COL4A5	NM_000495.5(COL4A5):c.2031_2038del:p.Gly678fs	coding	Pathogenic
X	108601888	AC	A	C108601891T	COL4A5	NM_033380.3(COL4A5):c.2048del:p.Pro683fs	coding	Pathogenic
X	108601890	CCTG	C	C108601891G	COL4A5	NM_033380.3(COL4A5):c.2048_2050del:p.Pro683_Gly684delinsArg	coding	Pathogenic
X	108601898	TC	T	C108601900A	COL4A5	NM_033380.3(COL4A5):c.2057del:p.Pro686fs	coding	Pathogenic
X	108601902	G	GGGCAACCAGGCTTGCCAGGGATACCTGGTAGCAAAGGAGAACCAGGTATCCCT	A108601958C	COL4A5	NM_033380.3(COL4A5):c.2062_2114dup:p.Ile706fs	coding	Pathogenic
X	108601982	T	TC	A108601986C	COL4A5	NM_033380.3(COL4A5):c.2142dup:p.Lys715fs	coding	Pathogenic
X	108602962	AG	A	G108602964C	COL4A5	NM_000495.4(COL4A5):c.2147delG:p.Gly716Alafs	noncoding	Pathogenic
X	108603022	AGAAGGCCCTCCTGGGCCACCC	A	A108603024G	COL4A5	NM_033380.3(COL4A5):c.2207_2227del:p.Glu736_Pro742del	coding	Pathogenic
X	108606794	G	GT	C108606798T	COL4A5	NM_033380.3(COL4A5):c.2300dup:p.Lys768fs	coding	Pathogenic
X	108606815	C	CA	G108606820A	COL4A5	NM_033380.3(COL4A5):c.2322dup:p.Gly775fs	coding	Pathogenic
X	108606843	TC	T	C108606845G	COL4A5	NM_033380.3(COL4A5):c.2348del:p.Pro783fs	coding	Pathogenic
X	108606893	GT	G	T108606894A	COL4A5	NM_033380.3(COL4A5):c.2395+2del	noncoding	Pathogenic
X	108614936	TG	T	G108614938A	COL4A5	NM_033380.3(COL4A5):c.2423del:p.Gly808fs	coding	Pathogenic
X	108614949	CCTCCTGG	AACCTGGACCAATGGGACCAATGGGAACAC	C108614949A	COL4A5	NM_033380.3(COL4A5):c.2434_2441delinsAACCTGGACCAATGGGACCAATGGGAACAC:p.Pro812fs	coding	Pathogenic
X	108614967	ATA	T	A108614967T	COL4A5	NM_033380.3(COL4A5):c.2452_2454delinsT:p.Ile818fs	coding	Pathogenic
X	108614978	GGGACCACCA	G	A108614990G	COL4A5	NM_033380.3(COL4A5):c.2466_2474ACCACCAGG[1]:p.823_825PPG[1]	coding	Pathogenic
X	108614990	AC	A	C108614992A	COL4A5	NM_033380.3(COL4A5):c.2477del:p.Pro826fs	coding	Pathogenic
X	108615010	CA	C	A108615012T	COL4A5	NM_033380.3(COL4A5):c.2497del:p.Pro832_Ile833insTer	coding	Pathogenic
X	108620255	CTAGGTTTACATGGAA	C	G108620258C	COL4A5	NM_000495.5(COL4A5):c.2510-1_2523del	noncoding	Pathogenic
X	108620257	AG	A	G108620259T	COL4A5	NM_000495.4(COL4A5):c.2510del:p.Gly837Valfs	noncoding	Pathogenic
X	108620257	AGGTTTACATGGAATACC	A	G108620258A	COL4A5	NM_033380.3(COL4A5):c.2510-1_2525del	noncoding	Pathogenic
X	108620257	AGGTTTACATGGAATACCAGGAGAGAAGGGGGATCCAGGACCTCCTG	A	G108620259A	COL4A5	NM_000495.4(COL4A5):c.2510-1_2554del	noncoding	Pathogenic
X	108620283	A	AGG	A108620289G	COL4A5	NM_033380.3(COL4A5):c.2538_2539dup:p.Asp847fs	coding	Pathogenic
X	108620289	ATCCAGGACCTCCTGGACTTGATGT	A	T108620299C	COL4A5	NM_033380.3(COL4A5):c.2550_2573del:p.Leu853_Gly860del	coding	Pathogenic
X	108620334	GAGGCAGTCCAGGGATCCCCGGAGCACCTGGTCCTATAGGACCTCCAGGATCACCAGGGCTTCCAGGAAAAGC	G	C108620338T	COL4A5	NM_033380.3(COL4A5):c.2589_2660del:p.Ser864_Gly887del	coding	Pathogenic
X	108620337	GC	G	C108620338A	COL4A5	NM_033380.3(COL4A5):c.2589del:p.Ser864fs	coding	Pathogenic
X	108620338	CAGTCCAGGGATCCCCGGAGCACCTGGTCCTATAGGA	C	A108620339C	COL4A5	NM_033380.3(COL4A5):c.2590_2625del:p.Ser864_Gly875del	coding	Pathogenic
X	108620341	TCCAGGGATCCCCGGAGCA	T	A108620344T	COL4A5	NM_033380.3(COL4A5):c.2595_2612del:p.Ile867_Gly872del	coding	Pathogenic
X	108620349	TC	T	C108620353G	COL4A5	NM_000495.5(COL4A5):c.2604del:p.Gly869fs	coding	Pathogenic
X	108620373	GA	G	A108620374C	COL4A5	NM_033380.3(COL4A5):c.2625del:p.Pro876fs	coding	Pathogenic
X	108620389	AG	A	G108620392C	COL4A5	NM_033380.3(COL4A5):c.2643del:p.Leu882fs	coding	Pathogenic
X	108621810	AG	A	G108621812T	COL4A5	NM_033380.3(COL4A5):c.2687del:p.Gly896fs	coding	Pathogenic
X	108621818	TGGGTATGATG	T	G108621821A	COL4A5	NM_033380.3(COL4A5):c.2696_2705del:p.Gly899fs	coding	Pathogenic
X	108621831	A	AC	T108621834C	COL4A5	NM_000495.5(COL4A5):c.2708dup:p.Pro904fs	coding	Pathogenic
X	108621872	GTGGTGTACCTG	T	G108621872T	COL4A5	NM_033380.3(COL4A5):c.2747_2758delinsT:p.Ser916fs	coding	Pathogenic
X	108621888	TA	T	A108621891G	COL4A5	NM_033380.3(COL4A5):c.2766del:p.Gly923fs	coding	Pathogenic
X	108621890	AA	TT	A108621890T	COL4A5	NM_033380.3(COL4A5):c.2765_2766inv:p.Lys922Ile	coding	Pathogenic
X	108621893	GT	G	T108621894A	COL4A5	NM_033380.3(COL4A5):c.2767+2del	noncoding	Pathogenic
X	108622729	GGTA	G	G108622733A	COL4A5	NM_033380.3(COL4A5):c.2822_2824GTA[1]:p.Ser942del	coding	Pathogenic
X	108622737	AG	A	G108622739A	COL4A5	NM_033380.3(COL4A5):c.2831del:p.Gly944fs	coding	Pathogenic
X	108622752	TC	T	C108622754A	COL4A5	NM_033380.3(COL4A5):c.2846del:p.Pro949fs	coding	Pathogenic
X	108622795	A	AAAGGAGAG	G108622808A	COL4A5	NM_033380.3(COL4A5):c.2892_2899dup:p.Gly967fs	coding	Pathogenic
X	108622811	A	AG	A108622812G	COL4A5	NM_033380.3(COL4A5):c.2903_2904insG:p.Pro969fs	coding	Pathogenic
X	108624244	GGA	G	A108624246T	COL4A5	NM_033380.3(COL4A5):c.2928_2929del:p.Val977fs	coding	Pathogenic
X	108624257	CA	C	A108624261G	COL4A5	NM_033380.3(COL4A5):c.2943del:p.Gly982fs	coding	Pathogenic
X	108624263	GT	G	T108624265A	COL4A5	NM_033380.3(COL4A5):c.2947del:p.Tyr983fs	coding	Pathogenic
X	108624275	TGCCTGGAGACCCAGGGCA	T	G108624276A	COL4A5	NM_033380.3(COL4A5):c.2958_2975del:p.Asp989_Gly994del	coding	Pathogenic
X	108624282	AG	A	G108624283A	COL4A5	NM_033380.3(COL4A5):c.2965del:p.Asp989fs	coding	Pathogenic
X	108624292	CAACCTGG	C	A108624294C	COL4A5	NM_033380.3(COL4A5):c.2976_2982del:p.Gln992fs	coding	Pathogenic
X	108625733	AC	A	C108625734A	COL4A5	NM_033380.3(COL4A5):c.3046del:p.Gln1016fs	coding	Pathogenic
X	108625743	CT	C	T108625745A	COL4A5	NM_033380.3(COL4A5):c.3057del:p.Leu1019_Ile1020insTer	coding	Pathogenic
X	108626266	TC	T	C108626270A	COL4A5	NM_033380.3(COL4A5):c.3167del:p.Pro1056fs	coding	Pathogenic
X	108626279	CT	C	T108626280G	COL4A5	NM_033380.3(COL4A5):c.3177del:p.Gly1060fs	coding	Pathogenic
X	108626328	TC	T	C108626330A	COL4A5	NM_033380.3(COL4A5):c.3227del:p.Pro1076fs	coding	Pathogenic
X	108655377	GT	G	T108655379C	COL4A5	NM_033380.3(COL4A5):c.3295del:p.Ser1099fs	coding	Pathogenic
X	108655410	C	CT	A108655411T	COL4A5	NM_000495.5(COL4A5):c.3326_3327insT:p.Gly1110fs	coding	Pathogenic
X	108655413	GA	G	A108655415C	COL4A5	NM_033380.3(COL4A5):c.3331del:p.Thr1111fs	coding	Pathogenic
X	108655417	C	CCCTG	G108655422C	COL4A5	NM_033380.3(COL4A5):c.3334_3337dup:p.Gly1113fs	coding	Pathogenic
X	108655450	AT	A	T108655452C	COL4A5	NM_000495.5(COL4A5):c.3368del:p.Phe1123fs	coding	Pathogenic
X	108665543	GC	G	C108665546T	COL4A5	NM_033380.3(COL4A5):c.3413del:p.Pro1138fs	coding	Pathogenic
X	108665583	T	TAC	G108665584A	COL4A5	NM_033380.3(COL4A5):c.3450_3451insAC:p.Val1151fs	coding	Pathogenic
X	108666512	TG	T	G108666515C	COL4A5	NM_033380.3(COL4A5):c.3474del:p.Gln1159fs	coding	Pathogenic
X	108666528	CC	G	C108666528G	COL4A5	NM_033380.3(COL4A5):c.3487_3488delinsG:p.Pro1163fs	coding	Pathogenic
X	108666548	CG	C	G108666550T	COL4A5	NM_033380.3(COL4A5):c.3509del:p.Gly1170fs	coding	Pathogenic
X	108666566	TG	T	G108666568A	COL4A5	NM_033380.3(COL4A5):c.3527del:p.Gly1176fs	coding	Pathogenic
X	108666580	AGAAGGGT	A	G108666584C	COL4A5	NM_033380.3(COL4A5):c.3543_3549del:p.Lys1181fs	coding	Pathogenic
X	108667163	CT	C	T108667164G	COL4A5	NM_000495.5(COL4A5):c.3585del:p.Gly1196fs	coding	Pathogenic
X	108668331	ATGGAG	A	T108668332G	COL4A5	NM_033380.3(COL4A5):c.3618_3622del:p.Asp1206fs	coding	Pathogenic
X	108668359	TC	T	C108668361T	COL4A5	NM_033380.3(COL4A5):c.3647del:p.Pro1216fs	coding	Pathogenic
X	108668367	TTCCAGGTCCAAAGGGCGAACCAGGCTTTCACGGTTTCCCTGGTGTGCAGGGTCCCCCAGGCCCTCCTGGTTC	T	A108668371G	COL4A5	NM_033380.3(COL4A5):c.3657_3728del:p.Lys1222_Pro1245del	coding	Pathogenic
X	108668403	TC	T	C108668406T	COL4A5	NM_000495.5(COL4A5):c.3692del:p.Pro1231fs	coding	Pathogenic
X	108668403	T	TC	T108668407C	COL4A5	NM_000495.5(COL4A5):c.3692dup:p.Gly1232fs	coding	Pathogenic
X	108668407	TG	T	G108668409T	COL4A5	NM_000495.5(COL4A5):c.3695del:p.Gly1232fs	coding	Pathogenic
X	108668419	T	TCC	A108668425C	COL4A5	NM_033380.3(COL4A5):c.3709_3710dup:p.Gly1238fs	coding	Pathogenic
X	108668420	CCCCCAGGCCCTCCTGG	T	C108668420T	COL4A5	NM_033380.3(COL4A5):c.3706_3722delinsT:p.Pro1236fs	coding	Pathogenic
X	108668420	CCCCCAGGCCCTCCTGGTTCTCCGGGTCCAGCTCTGGAAGGACCTAAAGGCAA	C	C108668424T	COL4A5	NM_000495.5(COL4A5):c.3710_3761del:p.Pro1237fs	coding	Pathogenic
X	108668458	AG	A	G108668460A	COL4A5	NM_033380.3(COL4A5):c.3746del:p.Gly1249fs	coding	Pathogenic
X	108668466	A	AAGGC	A108668472G	COL4A5	NM_033380.3(COL4A5):c.3754_3757dup:p.Asn1253fs	coding	Pathogenic
X	108668503	AG	A	G108668505T	COL4A5	NM_033380.3(COL4A5):c.3790+1del	coding	Pathogenic
X	108677504	ACCAGGTCCAGAAGGTCCTCCAGGTCTCCCTGGAAATGGAGGTATTAAAGGAGAGAAGGGAAAT	A	T108677510C	COL4A5	NM_033380.3(COL4A5):c.3819_3881del:p.Pro1274_Gly1294del	coding	Pathogenic
X	108677522	TC	T	C108677524A	COL4A5	NM_033380.3(COL4A5):c.3833del:p.Pro1278fs	coding	Pathogenic
X	108677572	G	GCCAA	T108677579A	COL4A5	NM_033380.3(COL4A5):c.3884_3887dup:p.Gly1297fs	coding	Pathogenic
X	108677606	AG	A	G108677608A	COL4A5	NM_033380.3(COL4A5):c.3917del:p.Gly1306fs	coding	Pathogenic
X	108677628	CT	C	T108677629C	COL4A5	NM_033380.3(COL4A5):c.3938del:p.Leu1313fs	coding	Pathogenic
X	108680744	AT	A	T108680746C	COL4A5	NM_033380.3(COL4A5):c.4010del:p.Phe1337fs	coding	Pathogenic
X	108680927	AG	A	G108680932A	COL4A5	NM_000495.5(COL4A5):c.4045del:p.Glu1349fs	coding	Pathogenic
X	108681760	GT	G	T108681761C	COL4A5	NM_033380.3(COL4A5):c.4089del:p.Pro1364fs	coding	Pathogenic
X	108681776	TG	T	G108681778T	COL4A5	NM_000495.5(COL4A5):c.4088del:p.Gly1363fs	coding	Pathogenic
X	108681788	ACAGAGTAT	A	G108681791T	COL4A5	NM_033380.3(COL4A5):c.4119_4126del:p.Gln1373fs	coding	Pathogenic
X	108681789	CAG	C	A108681792T	COL4A5	NM_033380.3(COL4A5):c.4118_4119AG[1]:p.Ser1374fs	coding	Pathogenic
X	108681851	G	GTCCT	G108681852T	COL4A5	NM_033380.3(COL4A5):c.4179_4180insTCCT:p.Gly1394fs	coding	Pathogenic
X	108681863	AC	A	C108681867A	COL4A5	NM_033380.3(COL4A5):c.4195del:p.Gln1399fs	coding	Pathogenic
X	108681867	CA	C	A108681869G	COL4A5	NM_033380.3(COL4A5):c.4197del:p.Gly1400fs	coding	Pathogenic
X	108681869	AGGA	GGG	A108681869G	COL4A5	NM_033380.3(COL4A5):c.4197_4200delinsGGG:p.Pro1401fs	coding	Pathogenic
X	108681872	AC	A	C108681874T	COL4A5	NM_033380.3(COL4A5):c.4202del:p.Pro1401fs	coding	Pathogenic
X	108681884	A	AC	A108681887C	COL4A5	NM_033380.3(COL4A5):c.4214dup:p.Gly1406fs	coding	Pathogenic
X	108681887	AGG	A	G108681888T	COL4A5	NM_033380.3(COL4A5):c.4216_4216+1del	coding	Pathogenic
X	108686044	T	TC	A108686047C	COL4A5	NM_033380.3(COL4A5):c.4232dup:p.Gly1412fs	coding	Pathogenic
X	108686065	TG	T	G108686067A	COL4A5	NM_033380.3(COL4A5):c.4253del:p.Gly1418fs	coding	Pathogenic
X	108687498	T	TGGTCCCCCTGGTCCAGATGGATTGCAAGGTCCCCCA	A108687546T	COL4A5	NM_033380.3(COL4A5):c.4344_4379dup:p.Pro1449_Gly1460dup	coding	Pathogenic
X	108687507	TGGTCCAGATGGATTGCAAGGTCCCCCA	T	A108687513C	COL4A5	NM_033380.3(COL4A5):c.4347_4373del:p.Asp1450_Pro1458del	coding	Pathogenic
X	108687527	G	GT	C108687529T	COL4A5	NM_033380.3(COL4A5):c.4362dup:p.Pro1455fs	coding	Pathogenic
X	108687528	TC	T	C108687533A	COL4A5	NM_033380.3(COL4A5):c.4367del:p.Pro1456fs	coding	Pathogenic
X	108687542	CT	C	T108687543G	COL4A5	NM_033380.3(COL4A5):c.4377del:p.Gly1460fs	coding	Pathogenic
X	108687582	C	CCA	G108687587C	COL4A5	NM_033380.3(COL4A5):c.4417_4418CA[3]:p.Ser1474fs	coding	Pathogenic
X	108687619	GGA	G	G108687620A	COL4A5	NM_033380.3(COL4A5):c.4454_4455del:p.Gly1485fs	coding	Pathogenic
X	108687620	GA	G	A108687622C	COL4A5	NM_033380.3(COL4A5):c.4456del:p.Thr1486fs	coding	Pathogenic
X	108687669	TAA	T	A108687672G	COL4A5	NM_033380.3(COL4A5):c.4506_4507del:p.Arg1503fs	coding	Pathogenic
X	108687672	AAG	A	A108687675C	COL4A5	NM_033380.3(COL4A5):c.4507_4508AG[1]:p.Arg1503fs	coding	Pathogenic
X	108692749	GA	G	A108692750C	COL4A5	NM_033380.3(COL4A5):c.4531del:p.Thr1511fs	coding	Pathogenic
X	108692751	CGGCTGGCAGCTGC	TTTCAT	C108692751T	COL4A5	NM_033380.3(COL4A5):c.4532_4545delinsTTTCAT:p.Thr1511fs	coding	Pathogenic
X	108692762	T	TTTAG	G108692763T	COL4A5	NM_033380.3(COL4A5):c.4543_4544insTTAG:p.Cys1515fs	coding	Pathogenic
X	108692767	TC	T	C108692768G	COL4A5	NM_000495.5(COL4A5):c.4531del:p.Arg1511fs	coding	Pathogenic
X	108692800	CA	C	A108692802C	COL4A5	NM_033380.3(COL4A5):c.4583del:p.Asn1528fs	coding	Pathogenic
X	108692836	TG	T	G108692837A	COL4A5	NM_033380.3(COL4A5):c.4618del:p.Asp1540fs	coding	Pathogenic/Likely_pathogenic
X	108692892	TA	T	A108692895G	COL4A5	NM_033380.3(COL4A5):c.4676del:p.Lys1559fs	coding	Pathogenic
X	108694777	ATTATGTTCCTTCTCCTTTTCC	CA	A108694777C	COL4A5	NM_033380.3(COL4A5):c.4707-30_4707-9delinsCA	noncoding	Pathogenic
X	108694803	CCAGATGTGCAGTATGTGAAGCTCCAGCTGTGG	C	C108694804T	COL4A5	NM_033380.3(COL4A5):c.4707-3_4735del	noncoding	Pathogenic
X	108694812	CA	C	A108694813G	COL4A5	NM_033380.3(COL4A5):c.4713del:p.Val1572fs	coding	Pathogenic
X	108694842	CA	C	A108694843G	COL4A5	NM_033380.3(COL4A5):c.4743del:p.Val1582fs	coding	Pathogenic
X	108694846	TCA	T	C108694849G	COL4A5	NM_033380.3(COL4A5):c.4747_4748CA[1]:p.His1583fs	coding	Pathogenic
X	108694854	A	AT	G108694855T	COL4A5	NM_033380.3(COL4A5):c.4754_4755insT:p.Gln1585fs	coding	Pathogenic
X	108694862	CA	C	A108694863G	COL4A5	NM_033380.3(COL4A5):c.4763del:p.Gln1588fs	coding	Pathogenic
X	108694864	GATTCCCC	G	C108694868G	COL4A5	NM_033380.3(COL4A5):c.4768_4774del:p.Pro1590fs	coding	Pathogenic
X	108694865	A	AT	C108694868T	COL4A5	NM_033380.3(COL4A5):c.4767dup:p.Pro1590fs	coding	Pathogenic
X	108694886	TG	T	G108694889A	COL4A5	NM_033380.3(COL4A5):c.4789del:p.Asp1597fs	coding	Pathogenic
X	108694895	CTG	C	T108694898G	COL4A5	NM_033380.3(COL4A5):c.4796_4797TG[1]:p.Trp1600fs	coding	Pathogenic
X	108695116	G	GT	A108695117T	COL4A5	NM_033380.3(COL4A5):c.4822-151_4822-150insT	noncoding	Pathogenic
X	108695278	A	AG	C108695283G	COL4A5	NM_033380.3(COL4A5):c.4837dup:p.Ala1613fs	coding	Pathogenic
X	108695293	AG	A	G108695295T	COL4A5	NM_033380.3(COL4A5):c.4850del:p.Gly1617fs	coding	Pathogenic
X	108695342	GCTCC	G	C108695345T	COL4A5	NM_033380.3(COL4A5):c.4900_4903del:p.Pro1634fs	coding	Pathogenic
X	108695401	C	CT	G108695406T	COL4A5	NM_033380.3(COL4A5):c.4960dup:p.Trp1654fs	coding	Pathogenic
X	108695430	AC	A	C108695431A	COL4A5	NM_033380.3(COL4A5):c.4986del:p.Asp1662fs	coding	Pathogenic
X	108696309	AGAAACGCT	A	C108696314G	COL4A5	NM_033380.3(COL4A5):c.5012_5019del:p.Thr1671fs	coding	Pathogenic
X	108696353	GT	G	T108696354C	COL4A5	NM_033380.3(COL4A5):c.5052del:p.Gln1685fs	coding	Pathogenic
X	108733179	TACAGC	T	A108733182T	IRS4	NM_003604.2(IRS4):c.3161_3165del:p.Cys1054fs	coding	Pathogenic
X	108734572	G	GC	A108734581C	IRS4	NM_003604.2(IRS4):c.1772dup:p.Lys592fs	coding	Pathogenic
X	109678071	CAT	C	A109678072G	ACSL4	NM_001318510.2(ACSL4):c.845_846del:p.His282fs	coding	Pathogenic
X	110317617	C	CG	T110317624G	AMMECR1	NM_015365.3(AMMECR1):c.454dup:p.Arg152fs	coding	Pathogenic
X	110317617	CG	C	G110317623T	AMMECR1	NM_015365.3(AMMECR1):c.454del:p.Arg152fs	coding	Pathogenic
X	110688709	AC	A	C110688710A	CHRDL1	NM_001143981.2(CHRDL1):c.872del:p.Cys291fs	coding	Pathogenic
X	110688773	TGA	T	G110688776A	CHRDL1	NM_001143981.2(CHRDL1):c.805_806TC[1]:p.His270fs	coding	Pathogenic
X	110719855	G	GA	T110719858A	CHRDL1	NM_001143981.2(CHRDL1):c.520dup:p.Ser174fs	coding	Pathogenic
X	110762798	GTC	G	C110762802G	CHRDL1	NM_001143981.2(CHRDL1):c.100_101GA[1]:p.Glu34fs	coding	Pathogenic
X	111162936	C	CGGAG	C111162937G	PAK3	NM_002578.5(PAK3):c.490_491insGGAG:p.Pro164fs	coding	Pathogenic
X	111220945	CA	C	A111220962C	PAK3	NM_002578.5(PAK3):c.*515del	noncoding	Benign
X	111330974	C	CT	C111330977T	DCX	NM_001195553.2(DCX):c.875dup:p.Thr293fs	coding	Pathogenic
X	111333116	ACAT	A	T111333125C	DCX	NM_001195553.2(DCX):c.734_736ATG[2]:p.Asp247del	coding	Pathogenic
X	111400988	AC	A	C111400990T	DCX	NM_001195553.2(DCX):c.705+1del	noncoding	Pathogenic
X	111400995	T	TTCCATCCAGAGTGTA	G111401011T	DCX	NM_001195553.2(DCX):c.685_699dup:p.Tyr229_Gly233dup	coding	Pathogenic
X	111401002	CAG	C	A111401005T	DCX	NM_001195553.2(DCX):c.689_690CT[1]:p.Leu231fs	coding	Pathogenic
X	111401009	TAG	T	A111401012T	DCX	NM_001195553.2(DCX):c.682_683CT[1]:p.Tyr229fs	coding	Pathogenic
X	111401013	G	GT	G111401020T	DCX	NM_001195553.2(DCX):c.681dup:p.Leu228fs	coding	Pathogenic
X	111401013	GT	G	T111401019G	DCX	NM_001195553.2(DCX):c.681del:p.Lys227fs	coding	Pathogenic
X	111401024	AC	A	C111401028G	DCX	NM_001195553.2(DCX):c.670del:p.Val224fs	coding	Pathogenic
X	111401028	CG	C	G111401030T	DCX	NM_001195553.2(DCX):c.666del:p.Val224fs	coding	Pathogenic
X	111401043	TG	T	G111401045C	DCX	NM_001195553.2(DCX):c.651del:p.Ile218fs	coding	Pathogenic
X	111401109	GCACAGCCT	G	C111401110T	DCX	NM_001195553.2(DCX):c.578_585del:p.Lys193fs	coding	Pathogenic
X	111401116	CT	C	T111401118C	DCX	NM_001195553.2(DCX):c.578del:p.Lys193fs	coding	Benign
X	111401166	CA	C	A111401169G	DCX	NM_001195553.2(DCX):c.528del:p.Phe176fs	coding	Pathogenic
X	111401190	GTGCACTGTTGC	G	A111401194T	DCX	NM_001195553.2(DCX):c.494_504del:p.Ser165fs	coding	Pathogenic
X	111401215	CTG	C	T111401216G	DCX	NM_001195553.2(DCX):c.478_479del:p.Gln160fs	coding	Pathogenic
X	111401227	C	CA	T111401229A	DCX	NM_001195553.2(DCX):c.467dup:p.Met156fs	coding	Pathogenic
X	111401301	AGTT	A	T111401304C	DCX	NM_001195553.2(DCX):c.391_393del:p.Asn131del	coding	Pathogenic
X	111401327	TC	T	C111401331T	DCX	NM_178151.2(DCX):c.367del	coding	Pathogenic
X	111410033	AC	A	C111410035T	DCX	NM_178152.3(DCX):c.364+1del	noncoding	Pathogenic
X	111410042	CAG	C	A111410043T	DCX	NM_001195553.2(DCX):c.355_356del:p.Leu119fs	coding	Pathogenic
X	111410059	C	CG	A111410061G	DCX	NM_001195553.2(DCX):c.339dup:p.Gly114fs	coding	Pathogenic
X	111410121	TCAGA	T	C111410126G	DCX	NM_001195553.2(DCX):c.270_273TCTG[1]:p.Ser92fs	coding	Pathogenic
X	111410244	GCTTT	G	T111410248C	DCX	NM_001195553.2(DCX):c.151_154del:p.Lys51fs	coding	Pathogenic
X	111410274	GT	G	T111410276C	DCX	NM_001195553.2(DCX):c.124del:p.Thr42fs	coding	Pathogenic
X	111410313	G	GGGCTA	A111410322T	DCX	NM_001195553.2(DCX):c.81_85dup:p.Pro29fs	coding	Pathogenic
X	111410363	A	ATC	T111410369C	DCX	NM_001195553.2(DCX):c.32_33GA[3]:p.Asp12fs	coding	Pathogenic
X	111410367	CTT	C	T111410369C	DCX	NM_178152.3(DCX):c.30_31del:p.Arg11_Asp12insTer	coding	Pathogenic
X	111410374	CAA	C	A111410376G	DCX	NM_001195553.2(DCX):c.23_24del:p.His7_Phe8insTer	coding	Pathogenic
X	111730405	TGAA	T	G111730409T	ALG13	NM_001099922.3(ALG13):c.2380_2382GAA[1]:p.Glu795del	coding	Benign/Likely_benign
X	111744725	TACCACC	T	A111744765T	ALG13	NM_001099922.3(ALG13):c.2754_2756ACC[13]:p.Pro944_Pro945del	coding	Benign
X	111744725	T	TACCACC	T111744771A	ALG13	NM_001099922.3(ALG13):c.2754_2756ACC[17]:p.Pro944_Pro945dup	coding	Benign/Likely_benign
X	111744768	A	ACCACCT	T111744771A	ALG13	NM_001099922.3(ALG13):c.2798_2799insACCTCC:p.Pro944_Pro945dup	coding	Benign
X	111744768	ACCTCCTCCTCCT	A	C111744796G	ALG13	NM_001099922.3(ALG13):c.2797_2799CCT[9]:p.Pro942_Pro945del	coding	Benign/Likely_benign
X	112779389	GCTGGAGCAGCAGCAGCAGCAACAGCAA	G	A112779403T	AMOT	NM_001113490.1(AMOT):c.2738_2764del:p.Val913_Pro921del	coding	Benign
X	114906905	AAAG	A	A114906912G	HTR2C	NM_001256761.2(HTR2C):c.*26_*28AAG[2]	coding	Benign
X	115622386	ATAAG	A	A115622388T	PLS3	NM_005032.7(PLS3):c.216_219del:p.Ser73fs	coding	Pathogenic
X	115629211	TA	T	A115629216G	PLS3	NM_005032.7(PLS3):c.256del:p.Ser86fs	coding	Pathogenic
X	115645748	C	CA	C115645752A	PLS3	NM_005032.7(PLS3):c.1263-321dup	noncoding	Benign
X	119542514	CTCCTCT	C	C119542523A	CXorf56	NM_022101.4(CXorf56):c.492AGAGGA[1]:p.Glu167_Glu168del	coding	Pathogenic
X	119560350	C	CTA	C119560351T	CXorf56	NM_022101.4(CXorf56):c.159_160insTA:p.Asp54Ter	coding	Pathogenic
X	119834978	CG	C	G119834979A	UPF3B	NM_023010.3(UPF3B):c.1312del:p.Arg438fs	coding	Pathogenic
X	119838505	CCT	C	C119838506T	UPF3B	NM_023010.3(UPF3B):c.828_829del:p.Gly277fs	coding	Pathogenic
X	119841184	CCT	C	C119841189T	UPF3B	NM_023010.3(UPF3B):c.693_694AG[2]:p.Arg233fs	coding	Pathogenic
X	119841185	CTCTCTTCT	C	C119841192T	UPF3B	NM_023010.3(UPF3B):c.690_697del:p.Arg233fs	coding	Pathogenic
X	119841205	TTTTC	T	T119841211A	UPF3B	NM_023010.3(UPF3B):c.670_673GAAA[1]:p.Arg225fs	coding	Pathogenic
X	119843192	TATTA	T	A119843196C	UPF3B	NM_080632.3(UPF3B):c.575_578del:p.Glu191_Leu192insTer	coding	Pathogenic
X	119851748	C	CTTTTTTTTTTTT	A119851765T	UPF3B	NM_080632.2(UPF3B):c.263+7_263+18dup	noncoding	Benign
X	119852926	C	CT	A119852927T	UPF3B	NM_023010.3(UPF3B):c.2_3insA:p.Met1fs	coding	Pathogenic
X	119870715	TCA	T	C119870718G	RNF113A	NM_006978.3(RNF113A):c.895_896TG[1]:p.Cys299_Asp300delinsTer	coding	Pathogenic
X	120441785	AT	A	T120441788A	LAMP2	NM_002294.3(LAMP2):c.1037del:p.Asn346fs	coding	Pathogenic
X	120441802	CA	C	A120441803G	LAMP2	NM_013995.2(LAMP2):c.1020del:p.Gly341fs	coding	Pathogenic
X	120441848	CA	C	A120441849G	LAMP2	NM_013995.2(LAMP2):c.974del:p.Leu325fs	coding	Pathogenic
X	120441849	A	AG	C120441856G	LAMP2	NM_013995.2(LAMP2):c.973dup:p.Leu325fs	coding	Pathogenic
X	120442643	T	TA	T120442648A	LAMP2	NM_013995.2(LAMP2):c.883dup:p.Tyr295fs	coding	Pathogenic
X	120446298	TACTC	T	T120446301C	LAMP2	NM_013995.2(LAMP2):c.864+3_864+6del	noncoding	Pathogenic
X	120446316	CAA	C	A120446318G	LAMP2	NM_013995.2(LAMP2):c.851_852del:p.Phe284fs	coding	Pathogenic
X	120446380	GC	G	C120446382T	LAMP2	NM_013995.2(LAMP2):c.788del:p.Gly263fs	coding	Pathogenic
X	120446401	GGGGTT	ACTTCA	G120446401A	LAMP2	NM_002294.3(LAMP2):c.763_768delinsTGAAGT:p.Asn255_Pro256delinsTer	coding	Pathogenic
X	120446431	CAGG	C	G120446434A	LAMP2	NM_002294.3(LAMP2):c.742-7_742-5del	noncoding	Benign/Likely_benign
X	120446434	GAGA	G	G120446442A	LAMP2	NM_002294.3(LAMP2):c.742-16TCT[2]	noncoding	Benign
X	120447930	G	GT	C120447936T	LAMP2	NM_013995.2(LAMP2):c.651dup:p.Pro218fs	coding	Pathogenic
X	120447993	C	CTGTTG	A120447999T	LAMP2	NM_013995.2(LAMP2):c.584_588dup:p.Val197fs	coding	Pathogenic
X	120447995	GTTGAAGTT	G	A120447999T	LAMP2	NM_013995.2(LAMP2):c.579_586del:p.Lys193fs	coding	Pathogenic
X	120448978	CTC	TA	C120448978T	LAMP2	NM_013995.2(LAMP2):c.546_548delinsTA:p.Ser183fs	coding	Pathogenic
X	120449056	G	GATAAACTATTGCATCTAAAAAGGTCATTCAATGGAATTCTGATGGCCAAAAGTTC	C120449114A	LAMP2	NM_013995.2(LAMP2):c.415_469dup:p.Ser157Ter	coding	Pathogenic
X	120455379	TG	T	G120455380T	LAMP2	NM_002294.3(LAMP2):c.374del:p.Thr125fs	coding	Pathogenic
X	120455511	ATCCCCACA	CCAC	A120455511C	LAMP2	NM_002294.3(LAMP2):c.235_243delinsGTGG:p.Cys79fs	coding	Pathogenic
X	120455535	TGTCACAGTGCCATG	T	A120455539T	LAMP2	NM_013995.2(LAMP2):c.205_218del:p.His69fs	coding	Pathogenic
X	120456712	CA	C	A120456714G	LAMP2	NM_013995.2(LAMP2):c.121del:p.Cys41fs	coding	Pathogenic
X	120469102	T	AC	T120469102A	LAMP2	NM_013995.2(LAMP2):c.64+4delinsGT	noncoding	Pathogenic
X	120469127	CGAGCCCT	C	T120469134G	LAMP2	NM_013995.2(LAMP2):c.36_42del:p.Gly13fs	coding	Pathogenic
X	120469135	G	GA	G120469137A	LAMP2	NM_002294.3(LAMP2):c.34dup:p.Ser12fs	coding	Pathogenic
X	120469155	GC	G	C120469156G	LAMP2	NM_013995.2(LAMP2):c.14del:p.Arg5fs	coding	Pathogenic
X	120469183	AGGCGGCGAC	A	A120469200G	LAMP2	NM_002294.3(LAMP2):c.-32_-24GTCGCCGCC[1]	noncoding	Benign/Likely_benign
X	120534556	GAA	G	A120534560G	CUL4B	NM_003588.3(CUL4B):c.2243_2244del:p.Phe748fs	coding	Pathogenic
X	120535849	AAC	A	C120535855G	CUL4B	NM_001079872.2(CUL4B):c.2139_2140del:p.Leu714fs	coding	Pathogenic
X	120537033	T	TA	C120537035A	CUL4B	NM_001079872.2(CUL4B):c.1939dup:p.Tyr647fs	coding	Pathogenic
X	120539325	CTG	C	G120539327A	CUL4B	NM_003588.3(CUL4B):c.1736_1737del:p.Thr579fs	coding	Pathogenic
X	120541639	ACT	A	T120541641C	CUL4B	NM_003588.3(CUL4B):c.1458_1459del:p.Val487fs	coding	Pathogenic
X	120541658	TG	T	G120541659A	CUL4B	NM_001079872.2(CUL4B):c.1386del:p.Phe462fs	coding	Pathogenic
X	120543041	G	GA	G120543053A	CUL4B	NM_001079872.2(CUL4B):c.1257-19dup	noncoding	Benign
X	120544606	TTATAA	T	A120544610G	CUL4B	NM_003588.3(CUL4B):c.1007_1011del:p.Ile336fs	coding	Pathogenic
X	120545494	C	CA	T120545502A	CUL4B	NM_003588.3(CUL4B):c.923dup:p.Leu308fs	coding	Pathogenic
X	120545526	GA	G	A120545535G	CUL4B	NM_003588.3(CUL4B):c.901-10del	noncoding	Benign
X	120547153	CTG	C	T120547156C	CUL4B	NM_001079872.1(CUL4B):c.755_756CA[1]:p.Gln253fs	coding	Pathogenic
X	123184533	A	AG	C123184535G	GRIA3	NM_000828.4(GRIA3):c.-2G=	noncoding	Benign
X	123202745	A	AG	T123202748G	GRIA3	NM_007325.5(GRIA3):c.268+16757dup	coding	Benign
X	123202748	T	TG	C123202753G	GRIA3	NM_007325.5(GRIA3):c.268+16762dup	coding	Benign
X	123885647	CTATTTTCAAGAGAAGATGACTTTTAACAGTTTTGAAGGATCTAAAACTTGTGTACCTGCAGACATCAATAAGGAAGAAGAATTTGTAGAAGAGTTTAATAGATTAAAAACTTTTGCTAATTTTCCAAGTGGTAGTCCTGTTTCAGCATCAACACTGGCACGAGCAGGGTTTCTTTATACTGGTGAAGGAGATACCGTGCGGTGCTTTAGTTGTCATGCAGCTGTAGATAGATGGCAATATGGAGACTCAGCAGTTGGAAGACACAGGAAAGTATCCCCAAATTGCAGATTTATCAACGGCTTTTATCTTGAAAATAGTGCCACGCAGTCTACAAATTCTGGTATCCAGAATGGTCAGTACAAAGTTGAAAACTATCTGGGAAGCAGAGATCATTTTGCCTTAGACAGGCCATCTGAGACACATGCAGACTATCTTTTGAGAACTGGGCAGGTTGTAGATATATCAGACACCATATACCCGAGGAACCCTGCCATGTATAGTGAAGAAGCTAGATTAAAGTCCTTTCAGAACTGGCCAGACTATGCTCACCTAACCCCAAGAGAGTTAGCAAGTGCTGGACTCTACTACACAGGTATTGGTGACCAAGTGCAGTGCTTTTGTTGTGGTGGAAAACTGAAAAATTGGGAACCTTGTGATCGTGCCTGGTCAGAACACAGGCGACACTTTCCTAATTGCTTCTTTGTTTTGGGCCGGAATCTTAATATTCGAAGTGAATCTGATGCTGTGAGTTCTGATAGGAATTTCCCAAATTCAACAAATCTTCCAAGAAATCCATCCATGGCAGATTATGAAGCACGGATCTTTACTTTTGGGACATGGATATACTCAGTTAACAAGGAGCAGCTTGCAAGAGCTGGATTTTATGCTTTAGGTAAACTTTATTATAAAACCAATAAATAGCTTCCCAAGTATGCCAGGGCTCATAAAAAGTAAATAGATGCCCTTAGCCCCCTGAACTGGTAAATATTTAGGTATAACTTGGCATGATTATATATATATCTGTATTATTCCGTGAACTCTTATGTTGAACCTGTAATGTAACTACTGAATTTATGTGAAAAAGACTACCATATTATGAGTCATGCTTCTCTTCATGTAATTGTTTTTAGGAAGTAGATAACTTGCAAAAGATGGTAGACATCCCCAATAGCAAAATGGGTCTAATAGTAATATTAACCATCATTTATTGAGCACTTACTATAAGTGCTCAATACATATACTTCATGCATTTTCTCTAAGCTTCACAATAGCTTTGTTTGTTTGTTTTTGAGACAGAGTTTCGCTCTTGTTATCCAGGCTGGAGTGCAATGGCGTGATTTAGGCTCACCACAACCTCCACCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCATGTGCCACCACGCCCGGCTAATTTTGTATTTTTAGTAGACACAGGGTCTCTCCCTGTTGGTCAGGCTGGTCTCAAACTCCTGACCTCAGGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGCATGCACCATGCCTGGCTAATTTTTGTACTTTTAGTAGAGACAGGGTTTCACCATGGCCAGGCTGGTCTCGAACTCCTGACCTTGTGATCCGCCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCGCCGGCCATATGAGTACTTTCAAATGGACTGTGGTAGACATTTCAGGAAGGGCCATTGGAGTGATTGCTTCTAAAGATATTTTAAAAAGTTATACCATTATATATTTGACCCATTTATTTTAAGATTGAATAATGCCTATAAAATATTGGTTATTTCGAAAGATTTTATTTATGTACCATCATATAGTAATCTTGAAGGTTTGTTTAGTGTCATGTAGCTATAAACTTAGAGAAACTTACAATTTCATTATGTAGAACTTTAATGTTACTAATACTTGAAACATAACTTGTTTTAAAATTTCACAGTTTGAAACAGTAAGGACAATATTGGTGGCCCAAATAACATACTAAAAAGAAAGTATGGCCGGGCGCGGTGGCTCCCGCCTATAATCCCAGCACTTTGGGAGGCTGAGGTGGGTGGATCACCTGAAGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCTGGGCGTGATGGCATGCGCCTGTAGTCCCAGCTACTTGGGAGACTGAGGCAGGAGAATCACTTGAACCCAGAAGGCAGAGGTTGCAGTGAGCCGTGATCGCGCCATTGCACTCCAGCCTGGGCAACAAGAGTAAAACTCCATCTCAGAAAAAAATAATAATAATTAATAAATAAATAAATAAATAAATAAATAAATAAATGAAAATAAAGTATGCCAGGTACAGTGGCTTACGCCTGTAATCCCAACACTTTGGAAGGCCGAGGCGGGTGGATCACTTGAGGTCAGGAGTTCAAGATCAGGCTGGCCAACATGGTGAAACCCCATCTCTACCAAAGATATAAAAAATTAGCCGGGTGTGGTGGCGCATGCCTGTAATCCCAGCTACTTGAGAGGCTGAGGCAGGAGAATCGCTTGAACTCAGGAGGCAAAGGTTGCAGTGAACCAAGACTGCGCCATTGCACTCCGGTCTGGGGAACAGAGCCAGACTCAGTCTCAAAAAAAGAAAGAAAGTAACAATTTTAGTTTTTAACATAAAACTTGGGCAGTTTTATTTTTGTCTTCTATAAAAATACCTCACATTGAATCAGTGAATTTAGTGTGTATTTCTTCCTCAAAGGATAAAAATCATATCTGTTACTTAGATGTGAATTTGAATGTCTTGTTTTAAGCTGTGAGATTTTCATGTTTTTTAGATGTGCTTAATTTTTAGGTGTTAAATGAATATTTTTGTGTAAGCTTCTAATTGCACAAATACATATATTCCTGTGTGTTTTCGTAGGTGAAGGTGATAAAGTAAAGTGCTTTCACTGTGGAGGAGGGCTAACTGATTGGAAGCCCAGTGAAGACCCTTGGGAACAACATGCTAAATGGTATCCAGGGTAAGA	C	T123885653A	XIAP	NM_001167.4(XIAP):c.-10_977+11del	noncoding	Pathogenic
X	123885766	AT	A	T123885770C	XIAP	NM_001167.3(XIAP):c.108del:p.Pro37fs	coding	Pathogenic
X	123885870	G	GTAGA	G123885880A	XIAP	NM_001167.4(XIAP):c.210_213AGAT[3]:p.Trp73Ter	coding	Pathogenic
X	123885887	T	TA	G123885888A	XIAP	NM_001167.4(XIAP):c.225_226insA:p.Gly76fs	coding	Pathogenic
X	123885953	TC	T	C123885954T	XIAP	NM_001167.3(XIAP):c.292del:p.Glu99fs	coding	Pathogenic
X	123886048	TAGAC	T	A123886051G	XIAP	NM_001167.3(XIAP):c.389_392del:p.Asp130fs	coding	Pathogenic
X	123886080	CTT	C	T123886083G	XIAP	NM_001167.4(XIAP):c.421_422del:p.Leu141fs	coding	Pathogenic
X	123886107	A	AT	A123886109T	XIAP	NM_001167.4(XIAP):c.446dup:p.Ser150fs	coding	Pathogenic
X	123886152	GA	G	A123886154G	XIAP	NM_001167.4(XIAP):c.492del:p.Ala165fs	coding	Pathogenic
X	123886270	G	GT	G123886272T	XIAP	NM_001167.3(XIAP):c.609dup:p.Gly204fs	coding	Pathogenic
X	123886311	TG	T	G123886313T	XIAP	NM_001167.3(XIAP):c.651del:p.Trp217fs	coding	Pathogenic
X	123886331	C	CT	C123886335T	XIAP	NM_001167.3(XIAP):c.672dup:p.Pro225fs	coding	Pathogenic
X	123891280	CAA	C	A123891281T	XIAP	NM_001167.3(XIAP):c.1021_1022del:p.Asn341fs	coding	Pathogenic
X	123907144	CA	C	A123907145G	XIAP	NM_001167.3(XIAP):c.1458del:p.Val487fs	coding	Pathogenic
X	123909474	TGTATA	T	A123909477C	XIAP	NM_001167.3(XIAP):c.*2296_*2300del	noncoding	Benign
X	123911477	C	CA	G123911491A	XIAP	NM_001167.3(XIAP):c.*4309dup	noncoding	Benign
X	124037589	T	TA	T124037591A	STAG2	NM_001042750.2(STAG2):c.352dup:p.Ile118fs	coding	Pathogenic
X	124061768	T	TA	G124061770A	STAG2	NM_001042750.2(STAG2):c.1535-2dup	noncoding	Benign
X	124081527	AAGTAATCTCC	A	T124081530A	STAG2	NM_001042750.2(STAG2):c.2924+2_2924+11del	coding	Pathogenic
X	124371315	GTTTAT	G	A124371319T	SH2D1A	NM_002351.4(SH2D1A):c.347-32_347-28del	noncoding	Benign/Likely_benign
X	124371589	GA	G	A124371594G	SH2D1A	NM_002351.4(SH2D1A):c.*203del	noncoding	Benign
X	129540654	T	TG	T129540665G	OCRL	NM_000276.4(OCRL):c.40-80dup	noncoding	Benign
X	129557323	AG	A	G129557325T	OCRL	NC_000023.11:g.129557325del	noncoding	Pathogenic
X	129558721	A	AC	A129558727C	OCRL	NM_000276.4(OCRL):c.533dup:p.Pro179fs	coding	Pathogenic
X	129558952	CAT	C	A129558955C	OCRL	NM_000276.4(OCRL):c.674_675AT[1]:p.Ile226fs	coding	Pathogenic
X	129561212	C	CT	C129561215T	OCRL	NM_000276.4(OCRL):c.860dup:p.Tyr288fs	coding	Pathogenic
X	129561256	TAG	T	A129561263G	OCRL	NM_000276.4(OCRL):c.903_904AG[3]:p.Gly304fs	coding	Pathogenic
X	129562412	TGCTTCTTATATTTGCCA	T	C129562414A	OCRL	NM_000276.4(OCRL):c.970_986del:p.Leu324fs	coding	Pathogenic
X	129562636	AC	A	C129562637A	OCRL	NM_000276.4(OCRL):c.1095del:p.His365fs	coding	Pathogenic
X	129567336	ACT	A	C129567339A	OCRL	NM_000276.4(OCRL):c.1440_1441CT[1]:p.Asp480_Ser481insTer	coding	Pathogenic
X	129575933	AAGG	A	G129575936A	OCRL	NM_000276.4(OCRL):c.1753_1755del:p.Glu585del	coding	Pathogenic
X	129588898	ACT	A	C129588901G	OCRL	NM_000276.4(OCRL):c.2357_2358del:p.Ser786fs	coding	Pathogenic
X	129588901	CTG	C	T129588904G	OCRL	NM_000276.4(OCRL):c.2358_2359TG[1]:p.Val787fs	coding	Pathogenic
X	129588957	T	TA	C129588959A	OCRL	NM_000276.4(OCRL):c.2414dup:p.Tyr805Ter	coding	Pathogenic
X	129589937	CG	C	G129589938T	OCRL	NM_000276.4(OCRL):c.2563del:p.Val855fs	coding	Pathogenic
X	129812751	G	GA	G129812755A	ZDHHC9	NM_016032.4(ZDHHC9):c.743dup:p.Leu249fs	coding	Pathogenic
X	129812756	TATGAAATCCAGTCAGTCCCACG	T	T129812758C	ZDHHC9	NM_016032.4(ZDHHC9):c.717_738del:p.Val240fs	coding	Pathogenic
X	129812815	AG	A	G129812816A	ZDHHC9	NM_016032.4(ZDHHC9):c.679del:p.Val226_Leu227insTer	coding	Pathogenic
X	129829133	TAGCG	T	A129829134G	ZDHHC9	NM_016032.4(ZDHHC9):c.172_175del:p.Arg58fs	coding	Pathogenic
X	130147492	CCTT	C	T130147495C	AIFM1	NM_004208.4(AIFM1):c.603_605del:p.Arg201del	coding	Pathogenic
X	131274768	T	TA	G131274770A	IGSF1	NM_001555.5(IGSF1):c.3581dup:p.Glu1195fs	coding	Pathogenic
X	131275959	AC	A	C131275961A	IGSF1	NM_001555.5(IGSF1):c.2896+1del	noncoding	Pathogenic
X	131277139	T	TG	T131277146G	IGSF1	NM_001555.5(IGSF1):c.2407dup:p.His803fs	coding	Pathogenic
X	131277907	G	GT	C131277913T	IGSF1	NM_001555.5(IGSF1):c.2268dup:p.Arg757fs	coding	Pathogenic
X	131277942	TC	T	C131277943G	IGSF1	NM_001555.5(IGSF1):c.2233del:p.Glu745fs	coding	Pathogenic
X	131278026	TCCTTATACAGAGCAAACCCCATGCCTG	T	T131278029A	IGSF1	NM_001555.5(IGSF1):c.2123_2149del:p.Ala708_Lys716del	coding	Pathogenic
X	132077878	TA	T	A132077883G	FRMD7	NM_194277.2(FRMD7):c.2138del:p.Phe712_Leu713insTer	coding	Benign
X	133303016	G	GGCAC	T133303021G	GPC4	NM_001448.3(GPC4):c.1518_1521dup:p.Pro508fs	coding	Pathogenic
X	133303076	T	TA	T133303086A	GPC4	NM_001448.3(GPC4):c.1469-16dup	noncoding	Benign
X	133311392	AG	A	G133311395C	GPC4	NM_001448.3(GPC4):c.742del:p.Leu248fs	coding	Pathogenic
X	133324154	C	CT	G133324157T	GPC4	NM_001448.3(GPC4):c.701dup:p.Val235fs	coding	Pathogenic
X	133339185	TC	T	C133339186A	GPC4	NM_001448.3(GPC4):c.316del:p.Asp106fs	coding	Pathogenic
X	133536296	GTCAA	G	T133536301A	GPC3	NM_004484.3(GPC3):c.1574-7_1574-4del	noncoding	Benign/Likely_benign
X	133596575	TG	T	G133596578C	GPC3	NM_004484.3(GPC3):c.1437del:p.Gly481fs	coding	Pathogenic
X	133661835	TG	T	G133661836C	GPC3	NM_004484.3(GPC3):c.1307del:p.Ala436fs	coding	Pathogenic
X	133753860	CTGGGTCATAATAAGCTTGGGGAAAT	TGCAAG	C133753860T	GPC3	NM_001164617.2(GPC3):c.629_654delinsCTTGCA:p.Asn210fs	coding	Pathogenic
X	133754000	C	CA	C133754004A	GPC3	NM_004484.4(GPC3):c.513dup:p.Asp172Ter	coding	Pathogenic
X	133754050	T	TAGAG	C133754058G	GPC3	NM_004484.4(GPC3):c.460_463dup:p.Tyr155fs	coding	Pathogenic
X	133754180	TAAA	T	A133754194G	GPC3	NM_004484.4(GPC3):c.338-7_338-5del	noncoding	Benign
X	133754180	TAA	T	A133754195G	GPC3	NM_004484.4(GPC3):c.338-6_338-5del	noncoding	Benign/Likely_benign
X	133754180	TA	T	A133754196G	GPC3	NM_004484.3(GPC3):c.338-5del	noncoding	Benign
X	133754180	T	TA	G133754197A	GPC3	NM_004484.4(GPC3):c.338-20dup	noncoding	Benign
X	133953172	CAT	C	A133953173G	GPC3	NM_001164619.2(GPC3):c.175+32101_175+32102del	coding	Pathogenic
X	133953180	GCCCTTAGGGAGAC	G	C133953181A	GPC3	NM_001164619.2(GPC3):c.175+32082_175+32094del	coding	Pathogenic
X	133985356	C	CCGG	G133985372C	GPC3	NM_004484.4(GPC3):c.79_81CCG[6]:p.Pro31dup	coding	Benign
X	133985369	C	CG	C133985375G	GPC3	NM_004484.4(GPC3):c.80dup:p.Pro28fs	coding	Pathogenic
X	134245653	CT	C	T134245654G	CCDC160	NM_001101357.2(CCDC160):c.854del:p.Leu285fs	coding	Benign
X	134377638	GA	G	A134377644G	PHF6	NM_001015877.2(PHF6):c.27del:p.Pro11fs	coding	Pathogenic
X	134377638	G	GA	G134377645A	PHF6	NM_001015877.2(PHF6):c.27dup:p.Gly10fs	coding	Pathogenic
X	134377644	A	AGG	C134377648G	PHF6	NM_001015877.2(PHF6):c.29_30dup:p.Pro11fs	coding	Pathogenic
X	134377990	AAATGT	A	G134377994T	PHF6	NM_001015877.2(PHF6):c.139-11_139-7del	noncoding	Benign/Likely_benign
X	134415110	GA	G	A134415115G	PHF6	NM_001015877.2(PHF6):c.829del:p.Arg277fs	coding	Pathogenic
X	134417249	TG	AA	T134417249A	PHF6	NM_001015877.2(PHF6):c.915_916delinsAA:p.Cys305_Gly306delinsTer	coding	Pathogenic
X	134425232	GAGAGA	T	G134425232T	PHF6	NM_001015877.2(PHF6):c.1000_1005delinsT:p.Asp333_Glu334insTer	coding	Pathogenic
X	134460324	AGCCCTGGCGTCGTGGTGAGCAGCTCGGCCTGCCG	A	G134460333C	HPRT1	NM_000194.3(HPRT1):c.22_27+28del	coding	Pathogenic
X	134473386	C	CT	G134473389T	HPRT1	HPRT_CHICAGO	coding	Pathogenic
X	134473401	A	AT	A134473403T	HPRT1	HPRT_COORPAROO	coding	Pathogenic
X	134473452	CTAAT	C	A134473455T	HPRT1	NM_000194.3(HPRT1):c.124_127del:p.Ile42fs	coding	Pathogenic
X	134475252	A	AG	C134475259G	HPRT1	NM_000194.3(HPRT1):c.212dup:p.Tyr72fs	coding	Pathogenic
X	134475310	TAGTG	T	G134475312T	HPRT1	NM_000194.3(HPRT1):c.266_269del:p.Ser89fs	coding	Pathogenic
X	134486444	GT	G	T134486458A	HPRT1	NM_000194.3(HPRT1):c.319-7del	noncoding	Benign
X	134500026	ATA	TTT	A134500026T	HPRT1	NM_000194.3(HPRT1):c.610-4_610-2delinsTTT	noncoding	Pathogenic
X	134500061	CAAAATACAAAGCCTAAGATGAG	C	A134500063G	HPRT1	NM_000194.3(HPRT1):c.643_*7del:p.Lys215fs	coding	Pathogenic
X	135985684	AG	A	G135985685C	SLC9A6	NM_001042537.1(SLC9A6):c.183del:p.Lys61fs	coding	Pathogenic
X	135994805	G	GC	T135994807C	SLC9A6	NM_001042537.1(SLC9A6):c.346dup:p.Leu116fs	coding	Pathogenic
X	135998155	CAT	C	A135998158T	SLC9A6	NM_006359.3(SLC9A6):c.478_479AT[1]:p.Phe161fs	coding	Pathogenic
X	135998188	AA	CC	A135998188C	SLC9A6	NM_001042537.1(SLC9A6):c.603+3_603+4delinsCC	noncoding	Pathogenic
X	135998464	CT	C	T135998476G	SLC9A6	NM_006359.3(SLC9A6):c.508-6del	noncoding	Benign
X	135998479	CAG	C	G135998483C	SLC9A6	NM_006359.2(SLC9A6):c.509_510delGA:p.Arg170Thrfs	noncoding	Pathogenic
X	135998485	CAT	C	A135998486T	SLC9A6	NM_001042537.1(SLC9A6):c.608_609del:p.His203fs	coding	Pathogenic
X	135998498	AT	A	T135998499C	SLC9A6	NM_001379110.1(SLC9A6):c.465del:p.Ser158fs	coding	Pathogenic
X	135998854	A	AG	T135998857G	SLC9A6	NM_006359.2(SLC9A6):c.585dupG:p.Ser196Valfs	noncoding	Pathogenic
X	136002170	GGTGAAA	G	A136002174T	SLC9A6	NM_001042537.1(SLC9A6):c.860_865del:p.Glu287_Ser288del	coding	Pathogenic
X	136002194	GT	G	T136002196G	SLC9A6	NM_001042537.1(SLC9A6):c.882del:p.Ala295fs	coding	Pathogenic
X	136010492	TCA	T	C136010495G	SLC9A6	NM_001042537.1(SLC9A6):c.951_952CA[1]:p.Thr318fs	coding	Pathogenic
X	136010553	GGGTGCTGCT	G	G136010554A	SLC9A6	NM_001042537.1(SLC9A6):c.1012_1020del:p.Gly338_Ala340del	coding	Pathogenic
X	136013505	T	TA	T136013518A	SLC9A6	NM_001042537.1(SLC9A6):c.1236+80dup	noncoding	Benign
X	136016705	CTG	C	G136016707T	SLC9A6	NM_001042537.1(SLC9A6):c.1299_1300del:p.Phe434fs	coding	Pathogenic/Likely_pathogenic
X	136022615	TATTTAC	GTCTTGGGAAGAGCT	T136022615G	SLC9A6	NM_001042537.1(SLC9A6):c.1380_1386delinsGTCTTGGGAAGAGCT:p.Asn460fs	coding	Pathogenic
X	136022632	TCTTA	T	C136022637A	SLC9A6	NM_001379110.1(SLC9A6):c.1246_1249del:p.Leu416fs	coding	Pathogenic
X	136033428	TGAAAG	T	A136033431G	SLC9A6	NM_006359.3(SLC9A6):c.1569_1573del:p.Arg524fs	coding	Pathogenic
X	136044728	TAC	T	A136044729T	SLC9A6	NM_001042537.1(SLC9A6):c.*5_*6del	noncoding	Benign
X	136206491	TG	T	G136206492C	FHL1	NM_001159699.2(FHL1):c.108del:p.Gln37fs	coding	Pathogenic
X	136207170	G	GC	T136207172C	FHL1	NM_001159699.2(FHL1):c.360dup:p.Phe121fs	coding	Pathogenic
X	136207816	G	GGACC	T136207822A	FHL1	NM_001159699.2(FHL1):c.406_409dup:p.Val137fs	coding	Pathogenic
X	136207829	CAA	C	A136207831G	FHL1	NM_001159699.2(FHL1):c.419_420del:p.Lys140fs	coding	Pathogenic
X	136207839	T	TTCA	C136207843T	FHL1	NM_001159699.2(FHL1):c.428_430dup:p.Thr144_Cys145insIle	coding	Pathogenic
X	136207877	AAGCTT	A	A136207878C	FHL1	NM_001159699.2(FHL1):c.466_470del:p.Ser156fs	coding	Pathogenic
X	136208510	TTG	T	G136208518T	FHL1	NM_001159699.2(FHL1):c.613_614del:p.Val205fs	coding	Pathogenic
X	136208547	G	GCGTTTCA	C136208556G	FHL1	NM_001159699.2(FHL1):c.644_650dup:p.Ala218fs	coding	Pathogenic
X	136208564	A	AG	A136208567G	FHL1	NM_001159699.2(FHL1):c.661dup:p.Asp221fs	coding	Pathogenic
X	136209853	C	CT	C136209863T	FHL1	NM_001449.4(FHL1):c.689-9dupT	noncoding	Benign
X	136209862	TC	T	C136209868A	FHL1	NM_001159699.2(FHL1):c.737-3del	noncoding	Benign/Likely_benign
X	136209938	C	CA	T136209945A	FHL1	NM_001159699.2(FHL1):c.810dup:p.Cys271fs	coding	Pathogenic
X	136209971	C	CTTTG	T136209979G	FHL1	NM_001159699.2(FHL1):c.841_844dup:p.Phe282fs	coding	Pathogenic/Likely_pathogenic
X	136209997	A	AT	G136210000T	FHL1	NM_001159699.2(FHL1):c.865dup:p.Cys289fs	coding	Pathogenic
X	136648380	GT	G	T136648381A	CD40LG	NM_000074.3(CD40LG):c.133del:p.Tyr45fs	coding	Pathogenic
X	136654385	AACAAAGAGGAG	A	A136654388G	CD40LG	NM_000074.2(CD40LG):c.304_314del:p.Lys102fs	coding	Pathogenic
X	136654429	AG	A	G136654431T	CD40LG	NM_000074.3(CD40LG):c.346+1del	coding	Pathogenic
X	136656366	TC	T	C136656368T	CD40LG	NM_000074.3(CD40LG):c.359del:p.Pro120fs	coding	Pathogenic
X	136656394	GA	G	A136656395G	CD40LG	NM_000074.3(CD40LG):c.386del:p.Glu129fs	coding	Pathogenic
X	136656409	AC	A	C136656410A	CD40LG	NM_000074.3(CD40LG):c.401del:p.Thr134fs	coding	Pathogenic
X	136659100	TG	T	G136659103A	CD40LG	NM_000074.3(CD40LG):c.474del:p.Lys159fs	coding	Pathogenic
X	136659135	A	AT	A136659138T	CD40LG	NM_000074.3(CD40LG):c.508dup:p.Tyr170fs	coding	Pathogenic
X	136659187	AG	A	G136659188C	CD40LG	NM_000074.2(CD40LG):c.559del:p.Ala187fs	coding	Pathogenic
X	136659266	AG	A	G136659267T	CD40LG	NM_000074.2(CD40LG):c.638del:p.Ser213fs	coding	Pathogenic
X	137566825	ACGCCGCCGC	A	C137566844T	ZIC3	NM_003413.4(ZIC3):c.135_137CGC[6]:p.Ala53_Ala55del	coding	Benign
X	137566853	T	TGCCGCC	T137566857G	ZIC3	NM_003413.4(ZIC3):c.163_165GCC[3]:p.Ala54_Ala55dup	coding	Pathogenic
X	137567165	CTACT	C	A137567167G	ZIC3	NM_003413.4(ZIC3):c.476_479del:p.Tyr159fs	coding	Pathogenic
X	137567194	AGGGCGCT	A	G137567199A	ZIC3	NM_003413.4(ZIC3):c.508_514del:p.Ala170fs	coding	Pathogenic
X	137567225	C	CG	T137567227G	ZIC3	NM_003413.4(ZIC3):c.535dup:p.Val179fs	coding	Pathogenic
X	137567258	TG	T	G137567262A	ZIC3	NM_003413.4(ZIC3):c.571del:p.Glu191fs	coding	Pathogenic
X	137567281	ACCCATACCGCCCAGTGG	A	C137567284A	ZIC3	NM_003413.4(ZIC3):c.593_609del:p.Pro198fs	coding	Pathogenic
X	137567715	TC	T	C137567716T	ZIC3	NM_003413.4(ZIC3):c.1025del:p.Ser342fs	coding	Pathogenic
X	139530795	TCA	AT	T139530795A	F9	NM_000133.4(F9):c.31_33delinsAT:p.Ser11fs	coding	Pathogenic
X	139530800	AG	A	G139530802C	F9	NM_000133.4(F9):c.38del:p.Gly13fs	coding	Pathogenic
X	139537159	AAC	A	A139537162T	F9	NM_000133.4(F9):c.239_240AC[1]:p.Asn80_Thr81insTer	coding	Pathogenic
X	139537383	GT	G	T139537385G	F9	NM_000133.3(F9):c.276del:p.Asp93fs	coding	Pathogenic
X	139541172	GAAAGA	AAAGG	G139541172A	F9	NM_000133.4(F9):c.374_379delinsAAAGG:p.Gly125fs	coding	Pathogenic
X	139551025	AAATATCAGGTTACTAATTTTTCTTCTATTTTTCTAGTGCCATTTCCATGTGGAAGAGTTTCTGTTTCACAAACTTCTAAGCTCACCCGTGCTGAGACTGTTTTTCCTGATGTGGACTATGTAAATTCTACTGAAGCTGAAACCATTTTGGATAACATCACTCAAAGCACCCAATCATTTAATGACTTCACTCGGGTTGTTGGTGGAGAAGATGCCAAACCAGGTCAATTCCCTTGGCAGGTACTTTATACTGATGGTGTGTCAAAACTGGAGCTCAGCTGGCAAGACACAGGCCAGGTGGGAGACTGAGGCTATTTTACTAG	A	A139551027C	F9	NM_000133.3(F9):c.521-35_723+84del	noncoding	Pathogenic
X	139551078	AAG	A	A139551081T	F9	NM_001313913.1(F9):c.424_425AG[1]:p.Arg142fs	coding	Pathogenic
X	139551084	TTC	T	C139551086G	F9	NM_000133.4(F9):c.545_546del:p.Ser182fs	coding	Pathogenic
X	139561500	T	TA	T139561505A	F9	NM_000133.4(F9):c.839-20dup	noncoding	Benign
X	139561789	TCTTCAGTA	T	T139561791C	F9	NM_000133.4(F9):c.1106_1113del:p.Leu369fs	coding	Pathogenic
X	139588447	TA	T	A139588456G	MCF2	NM_005369.5(MCF2):c.2371-10del	noncoding	Benign
X	140504329	TGCGGCCGCGGCAGCGGCGGCG	T	G140504342C	SOX3	NM_005634.2(SOX3):c.711_731del:p.Ala242_Ala248del	coding	Benign/Likely_benign
X	147912049	C	CGCG	A147912081C	FMR1	NM_002024.6(FMR1):c.-129_-127CGG[11]	noncoding	Benign
X	147912049	C	CGCGGCG	A147912081C	FMR1	NM_002024.6(FMR1):c.-129_-127CGG[12]	noncoding	Benign
X	147912049	C	CGCGGCGGCG	A147912081C	FMR1	NM_002024.6(FMR1):c.-129_-127CGG[13]	noncoding	Benign
X	147912049	C	CGCGGCGGCGGCG	A147912081C	FMR1	NM_002024.6(FMR1):c.-129_-127CGG[14]	noncoding	Benign
X	147912049	C	CGCGGCGGCGGCGGCG	A147912081C	FMR1	NM_002024.6(FMR1):c.-129_-127CGG[15]	noncoding	Benign
X	147912049	C	CGCGGCGGCGGCGGCGGCG	A147912081C	FMR1	NM_002024.6(FMR1):c.-129_-127CGG[16]	noncoding	Benign
X	147912049	C	CGCGGCGGCGGCGGCGGCGGCG	A147912081C	FMR1	NM_002024.6(FMR1):c.-129_-127CGG[17]	noncoding	Benign
X	147912049	C	CGCGGCGGCGGCGGCGGCGGCGGCG	A147912081C	FMR1	NM_002024.6(FMR1):c.-129_-127CGG[18]	noncoding	Benign
X	147912049	C	CGCGGCGGCGGCGGCGGCGGCGGCGGCG	A147912081C	FMR1	NM_002024.6(FMR1):c.-129_-127CGG[19]	noncoding	Benign
X	147912049	C	CGCGGCGGCGGCGGCGGCGGCGGCGGCGGCG	A147912081C	FMR1	NM_002024.6(FMR1):c.-129_-127CGG[20]	noncoding	Benign
X	147912049	C	CGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCG	A147912081C	FMR1	NM_002024.6(FMR1):c.-129_-127CGG[21]	noncoding	Benign
X	147912049	C	CGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCG	A147912081C	FMR1	NM_002024.6(FMR1):c.-129_-127CGG[22]	noncoding	Benign
X	147912049	C	CGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCG	A147912081C	FMR1	NM_002024.6(FMR1):c.-129_-127CGG[23]	noncoding	Benign
X	147912049	C	CGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCG	A147912081C	FMR1	NM_002024.6(FMR1):c.-129_-127CGG[24]	noncoding	Benign
X	147912049	C	CGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCG	A147912081C	FMR1	NM_002024.6(FMR1):c.-129_-127CGG[25]	noncoding	Benign
X	147912049	C	CGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCG	A147912081C	FMR1	NM_002024.6(FMR1):c.-129_-127CGG[26]	noncoding	Benign
X	147912049	C	CGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCG	A147912081C	FMR1	NM_002024.6(FMR1):c.-129_-127CGG[27]	noncoding	Benign
X	147912049	C	CGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCG	A147912081C	FMR1	NM_002024.6(FMR1):c.-129_-127CGG[28]	noncoding	Benign
X	147912049	C	CGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCG	A147912081C	FMR1	NM_002024.6(FMR1):c.-129_-127CGG[29]	noncoding	Benign
X	147912049	C	CGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCG	A147912081C	FMR1	NM_002024.6(FMR1):c.-129_-127CGG[30]	noncoding	Benign
X	147912049	C	CGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCG	A147912081C	FMR1	NM_002024.6(FMR1):c.-129_-127CGG[31]	noncoding	Benign
X	147912049	C	CGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCG	A147912081C	FMR1	NM_002024.6(FMR1):c.-129_-127CGG[32]	noncoding	Benign
X	147912049	C	CGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCG	A147912081C	FMR1	NM_002024.6(FMR1):c.-129_-127CGG[33]	noncoding	Benign
X	147912049	C	CGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCG	A147912081C	FMR1	NM_002024.6(FMR1):c.-129_-127CGG[34]	noncoding	Benign
X	147912049	C	CGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCG	A147912081C	FMR1	NM_002024.6(FMR1):c.-129_-127CGG[35]	noncoding	Benign
X	147912049	C	CGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCG	A147912081C	FMR1	NM_002024.6(FMR1):c.-129_-127CGG[36]	noncoding	Benign
X	147912049	C	CGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCG	A147912081C	FMR1	NM_002024.6(FMR1):c.-129_-127CGG[37]	noncoding	Benign
X	147912049	C	CGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCG	A147912081C	FMR1	NM_002024.6(FMR1):c.-129_-127CGG[38]	noncoding	Benign
X	147912049	C	CGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCG	A147912081C	FMR1	NM_002024.6(FMR1):c.-129_-127CGG[39]	noncoding	Benign
X	147912049	C	CGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCG	A147912081C	FMR1	NM_002024.6(FMR1):c.-129_-127CGG[40]	noncoding	Benign
X	147912049	C	CGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCG	A147912081C	FMR1	NM_002024.6(FMR1):c.-129_-127CGG[41]	noncoding	Benign
X	147912049	C	CGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCG	A147912081C	FMR1	NM_002024.6(FMR1):c.-129_-127CGG[42]	noncoding	Benign
X	147912049	C	CGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCG	A147912081C	FMR1	NM_002024.6(FMR1):c.-129_-127CGG[43]	noncoding	Benign
X	147912049	C	CGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCG	A147912081C	FMR1	NM_002024.6(FMR1):c.-129_-127CGG[44]	noncoding	Benign
X	147912049	C	CGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCG	A147912081C	FMR1	NM_002024.5(FMR1):c.-128_-126(200	noncoding	Pathogenic
X	147912049	CGCG	C	C147912078A	FMR1	NM_002024.6(FMR1):c.-129_-127CGG[9]	noncoding	Benign
X	147912049	CGCGGCG	C	C147912075A	FMR1	NM_002024.6(FMR1):c.-129_-127CGG[8]	noncoding	Benign
X	147921932	GG	TA	G147921932T	FMR1	NM_002024.5(FMR1):c.52-1_52delinsTA	coding	Pathogenic
X	147928760	TA	T	A147928761C	FMR1	NM_002024.6(FMR1):c.373del:p.Thr125fs	coding	Pathogenic
X	147929926	A	AT	A147929938T	FMR1	NM_002024.5(FMR1):c.420-11dup	noncoding	Benign
X	148500637	TGCCGCCGCCGCCGCCGCCGCCGCCGCC	T	C148500658T	AFF2	NM_001169122.1(AFF2):c.-460_-458GCC(6_25	noncoding	Pathogenic
X	148980738	CA	C	A148980742T	AFF2	NM_002025.4(AFF2):c.3575del:p.Asn1192fs	coding	Pathogenic
X	149482935	CA	C	A149482936T	IDS	NM_000202.8(IDS):c.1463del:p.Met488fs	coding	Pathogenic
X	149482943	TTA	T	A149482947C	IDS	NM_000202.8(IDS):c.1452_1453TA[1]:p.Ile485fs	coding	Pathogenic
X	149483048	GA	G	A149483049T	IDS	NM_000202.8(IDS):c.1350del:p.Pro451fs	coding	Pathogenic
X	149486956	AG	A	G149486959T	IDS	NM_000202.8(IDS):c.1148del:p.Pro383fs	coding	Pathogenic
X	149486971	GAA	G	A149486974G	IDS	NM_000202.8(IDS):c.1132_1133del:p.Phe378fs	coding	Pathogenic
X	149490335	TG	T	G149490336A	IDS	NM_000202.8(IDS):c.984del:p.Ile329fs	coding	Pathogenic
X	149490410	CAG	C	A149490413G	IDS	NM_000202.8(IDS):c.906_907CT[1]:p.Ser303fs	coding	Pathogenic
X	149496382	GATGTT	G	A149496383T	IDS	NM_000202.8(IDS):c.838_842del:p.Asn280fs	coding	Pathogenic
X	149496392	G	GCTTCCCTTAAACAT	G149496396C	IDS	NM_000202.8(IDS):c.832_833insATGTTTAAGGGAAG:p.Ala278delinsAspValTer	coding	Pathogenic
X	149496457	AGGGACCTCGGGATC	A	A149496461G	IDS	NM_000202.8(IDS):c.754_767del:p.Pro251_Asp252insTer	coding	Pathogenic
X	149498124	G	GA	G149498125A	IDS	NM_000202.8(IDS):c.690_691insT:p.Pro231fs	coding	Pathogenic
X	149498160	AAG	A	A149498161G	IDS	NM_000202.8(IDS):c.653_654del:p.Pro218fs	coding	Pathogenic
X	149498215	CTGTT	C	T149498219C	IDS	NM_000202.8(IDS):c.596_599del:p.Lys199fs	coding	Pathogenic
X	149498217	GT	G	T149498220G	IDS	NM_000202.8(IDS):c.597del:p.Lys199fs	coding	Pathogenic
X	149498222	TCAGG	T	G149498225A	IDS	NM_000202.8(IDS):c.589_592del:p.Pro197fs	coding	Pathogenic
X	149498304	ATG	A	G149498306C	IDS	NM_000202.8(IDS):c.509_510del:p.Thr170fs	coding	Pathogenic
X	149500977	GGAT	G	G149500981A	IDS	NM_000202.8(IDS):c.473_475ATC[1]:p.His159del	coding	Pathogenic
X	149500992	AA	CCAGCTATACGG	A149500992C	IDS	NM_000202.8(IDS):c.463_464delinsCCGTATAGCTGG:p.Phe155fs	coding	Pathogenic
X	149503318	GA	G	A149503321G	IDS	NM_000202.8(IDS):c.411del:p.His138fs	coding	Pathogenic
X	149503324	CTT	C	T149503327C	IDS	NM_000202.8(IDS):c.404_405del:p.Lys135fs	coding	Pathogenic
X	149503378	TGGA	T	G149503380A	IDS	NM_000202.8(IDS):c.349_351del:p.Ser117del	coding	Pathogenic
X	149503412	G	GTTGA	A149503417T	IDS	NM_000202.8(IDS):c.314_317dup:p.Ser107fs	coding	Pathogenic
X	149504188	T	TG	A149504192G	IDS	NM_000202.8(IDS):c.208dup:p.His70fs	coding	Pathogenic
X	149505034	CCTGTGGTCGAGTTGGCCTGCGTTTCGGATCCGAGGGCGACGCAGACGGAGCTCAGAACCAGACCCAGCCAGAGAAGGCCTCGGCCGGTCCGGGGTGGCGGCATTTCGGCTTCGACGCGGCCGCTTCAGAGCGGCGGGGACAGGCTGCAGCAGGTGGCGCAGTTAGCAGCCGCCGCCGCAGCCACAGAGACCTCCTCGTCGGGAACCCATGAAGACTGCGCAACACAGCCGCCGCCCGGGCCCGCAGGCCCGGGCGCTGGCCGCAGCGCGAGTGCGTCCGTGCGACTCTTCCCTGCGTCCCTCCCCTCCGGGGCGGGTTCT	C	C149505035A	IDS	NM_000202.7(IDS):c.-217_103del320	coding	Pathogenic
X	149505049	G	GAT	C149505050A	IDS	NM_000202.8(IDS):c.88_89insAT:p.Ala30fs	coding	Pathogenic
X	149505100	AGCCAGAGAAGGCCTCG	A	A149505104G	IDS	NM_000202.8(IDS):c.22_37del:p.Arg8fs	coding	Pathogenic
X	150592631	CT	C	T150592633C	MTM1	NM_000252.2(MTM1):c.19del:p.Ser7fs	coding	Pathogenic
X	150592682	GT	G	T150592684G	MTM1	NM_000252.2(MTM1):c.63+7del	noncoding	Benign/Likely_benign
X	150596529	C	CT	G150596531T	MTM1	NM_000252.2(MTM1):c.96dup:p.Glu33Ter	coding	Pathogenic
X	150596548	TC	T	C150596550A	MTM1	NM_000252.3(MTM1):c.116del:p.Pro39fs	coding	Pathogenic
X	150596562	T	TA	T150596565A	MTM1	NM_000252.2(MTM1):c.130dup:p.Ile44fs	coding	Pathogenic
X	150598574	C	CT	A150598582T	MTM1	NM_000252.2(MTM1):c.137-11dup	noncoding	Benign
X	150598593	CAAA	C	A150598594G	MTM1	NM_000252.2(MTM1):c.139_141del:p.Lys47del	coding	Pathogenic
X	150598593	CAAAG	C	A150598596G	MTM1	NM_000252.2(MTM1):c.141_144del:p.Glu48fs	coding	Pathogenic
X	150598595	AAG	A	G150598597A	MTM1	NM_000252.2(MTM1):c.142_143del:p.Glu48fs	coding	Pathogenic
X	150598605	TTACA	T	C150598608T	MTM1	NM_000252.2(MTM1):c.153_156del:p.Ile52fs	coding	Pathogenic
X	150598608	CA	C	A150598609T	MTM1	NM_000252.2(MTM1):c.154del:p.Ile52fs	coding	Pathogenic
X	150614608	AT	A	T150614609G	MTM1	NM_000252.2(MTM1):c.252del:p.Asp84fs	coding	Pathogenic
X	150614694	TGTAAA	T	A150614699G	MTM1	NM_000252.2(MTM1):c.342_342+4del	coding	Pathogenic
X	150619089	GAT	G	A150619092G	MTM1	NM_000252.2(MTM1):c.395_396AT[1]:p.Met133fs	coding	Pathogenic
X	150619094	GT	G	T150619097G	MTM1	NM_000252.2(MTM1):c.402del:p.Phe134fs	coding	Pathogenic
X	150619113	T	TA	C150619115A	MTM1	NM_000252.2(MTM1):c.419dup:p.Tyr140Ter	coding	Pathogenic
X	150619125	CT	C	T150619126G	MTM1	NM_000252.2(MTM1):c.431del:p.Leu144fs	coding	Pathogenic
X	150638962	AT	A	T150638963G	MTM1	NM_000252.2(MTM1):c.465del:p.Asn155fs	coding	Pathogenic
X	150638966	AG	A	G150638967A	MTM1	NM_000252.2(MTM1):c.469del:p.Glu157fs	coding	Pathogenic
X	150638979	GTGGA	G	T150638988C	MTM1	NM_000252.3(MTM1):c.482_485TGGA[2]:p.Trp164fs	coding	Pathogenic
X	150638999	CA	C	A150639001T	MTM1	NM_000252.3(MTM1):c.503del:p.Asn168fs	coding	Pathogenic
X	150639012	GA	G	A150639014T	MTM1	NM_000252.3(MTM1):c.516del:p.Glu172fs	coding	Pathogenic
X	150641275	CCCAATCA	C	A150641279T	MTM1	NM_000252.2(MTM1):c.539_545del:p.Asn180fs	coding	Pathogenic
X	150641287	T	TG	A150641290G	MTM1	NM_000252.2(MTM1):c.549dup:p.Arg184fs	coding	Pathogenic
X	150641303	TTAA	T	T150641307G	MTM1	NM_000252.2(MTM1):c.564_566TAA[1]:p.Asn189del	coding	Pathogenic
X	150641328	CACTT	C	T150641331C	MTM1	NM_000252.2(MTM1):c.591_594del:p.Tyr198fs	coding	Pathogenic
X	150641332	T	TA	C150641334A	MTM1	NM_000252.2(MTM1):c.593dup:p.Tyr198Ter	coding	Pathogenic
X	150641333	ACCCTG	A	C150641335T	MTM1	NM_000252.2(MTM1):c.595_599del:p.Pro199fs	coding	Pathogenic
X	150641341	CT	C	T150641345G	MTM1	NM_000252.2(MTM1):c.605del:p.Leu202fs	coding	Pathogenic
X	150641362	GC	G	C150641364T	MTM1	NM_000252.3(MTM1):c.624del:p.Ser209fs	coding	Pathogenic
X	150645808	TAAAC	T	C150645812T	MTM1	NM_000252.2(MTM1):c.808_811del:p.Gln270fs	coding	Pathogenic
X	150645815	AT	A	T150645818C	MTM1	NM_000252.3(MTM1):c.814del:p.Ser272fs	coding	Pathogenic
X	150645870	A	AGG	T150645873G	MTM1	NM_000252.2(MTM1):c.867_867+1dup	coding	Pathogenic
X	150649734	GAA	G	A150649736G	MTM1	NM_000252.2(MTM1):c.888_889del:p.Glu296_Ser297insTer	coding	Pathogenic
X	150649758	GC	G	C150649760G	MTM1	NM_000252.2(MTM1):c.912del:p.Glu305fs	coding	Pathogenic
X	150649796	T	TA	T150649798A	MTM1	NM_000252.2(MTM1):c.949dup:p.Met317fs	coding	Pathogenic
X	150649807	CTT	C	T150649809A	MTM1	NM_000252.2(MTM1):c.961_962del:p.Leu321fs	coding	Pathogenic
X	150649810	TA	T	A150649817G	MTM1	NM_000252.2(MTM1):c.969del:p.Lys323_Val324insTer	coding	Pathogenic
X	150649810	T	TA	G150649818A	MTM1	NM_000252.2(MTM1):c.969dup:p.Val324fs	coding	Pathogenic
X	150649862	G	GT	C150649864T	MTM1	NM_000252.2(MTM1):c.1015dup:p.Ser339fs	coding	Pathogenic
X	150657808	TTTTC	T	C150657812G	MTM1	NM_000252.3(MTM1):c.1054-9_1054-6del	noncoding	Benign
X	150657853	CAA	C	A150657855G	MTM1	NM_000252.2(MTM1):c.1088_1089del:p.Lys363fs	coding	Pathogenic
X	150657853	C	CA	G150657857A	MTM1	NM_000252.2(MTM1):c.1089dup:p.Val364fs	coding	Pathogenic
X	150657943	G	GT	G150657946T	MTM1	NM_000252.2(MTM1):c.1178dup:p.Leu393fs	coding	Pathogenic
X	150657994	AG	T	A150657994T	MTM1	NM_000252.2(MTM1):c.1227_1228delinsT:p.Lys409fs	coding	Pathogenic
X	150659681	TA	T	A150659686C	MTM1	NM_000252.2(MTM1):c.1283del:p.Asn428fs	coding	Pathogenic
X	150659684	AAACC	A	A150659686C	MTM1	NM_000252.2(MTM1):c.1283_1286del:p.Asn428fs	coding	Pathogenic
X	150659706	TCTC	T	C150659709A	MTM1	NM_000252.2(MTM1):c.1306_1308del:p.Pro436del	coding	Pathogenic
X	150659707	C	CTCCTA	T150659714C	MTM1	NM_000252.2(MTM1):c.1306_1310dup:p.Phe438fs	coding	Pathogenic
X	150659708	TC	T	C150659710T	MTM1	NM_000252.2(MTM1):c.1307del:p.Pro436fs	coding	Pathogenic
X	150659749	CAAAACAGGT	C	A150659752G	MTM1	NM_000252.2(MTM1):c.1349_1353+4del	coding	Pathogenic
X	150660372	TCC	T	C150660374T	MTM1	NM_000252.2(MTM1):c.1357_1358del:p.Pro453fs	coding	Pathogenic
X	150660431	AGT	A	G150660432T	MTM1	NM_000252.2(MTM1):c.1415_1416del:p.Ser472fs	coding	Pathogenic
X	150660478	AAGAC	A	A150660481G	MTM1	NM_000252.2(MTM1):c.1465_1468del:p.Gln489fs	coding	Pathogenic
X	150663473	AC	A	C150663474A	MTM1	NM_000252.2(MTM1):c.1509del:p.Asn503fs	coding	Pathogenic
X	150663607	CAAGT	C	A150663612G	MTM1	NM_000252.2(MTM1):c.1644+3_1644+6del	coding	Pathogenic
X	150671571	GC	G	C150671575A	MTM1	NM_000252.2(MTM1):c.1792del:p.His598fs	coding	Pathogenic
X	150987788	C	CTA	A150987793T	HMGB3	NM_005342.4(HMGB3):c.478_479TA[3]:p.Lys161fs	coding	Pathogenic
X	151403610	TCTTTGTTTA	T	G151403615A	VMA21	NM_001017980.3(VMA21):c.54-16_54-8del	noncoding	Pathogenic
X	151405070	CCTTTTTATAGCATTAAATTCATTTTTTAAAATGATAAATGCTGGAGGGGGCCATCTGATTTGAATAAAGTTGAAAGAACATGTTAAAGTCAG	C	C151405071T	VMA21	NM_001017980.3(VMA21):c.*13_*104del	noncoding	Pathogenic
X	152867576	GGAA	G	G152867580C	NSDHL	NM_015922.3(NSDHL):c.693_695GAA[1]:p.Lys232del	coding	Pathogenic
X	152868897	CT	C	T152868898A	NSDHL	NM_015922.3(NSDHL):c.904del:p.Tyr302fs	coding	Pathogenic
X	152869031	C	CCATG	G152869036C	NSDHL	NM_015922.3(NSDHL):c.1038_1041dup:p.Gly348fs	coding	Pathogenic
X	152869089	C	CT	C152869093T	NSDHL	NM_015922.3(NSDHL):c.1098dup:p.Arg367fs	coding	Pathogenic
X	153454511	GGGGAGGGA	G	G153454541C	HAUS7	NM_017518.7(HAUS7):c.961-39TCCC[7]	noncoding	Benign
X	153454511	G	GGGGAGGGAGGGA	C153454549G	HAUS7	NM_017518.7(HAUS7):c.961-39TCCC[12]	noncoding	Benign
X	153548785	TGTGCTG	T	G153548788C	ATP2B3	NM_021949.3(ATP2B3):c.1272_1277del:p.Leu425_Val426del	coding	Pathogenic
X	153548788	GCTGGTC	G	C153548789G	ATP2B3	NM_021949.3(ATP2B3):c.1273_1278del:p.Leu425_Val426del	coding	Pathogenic
X	153548789	CTGGTCG	C	T153548793C	ATP2B3	NM_021949.3(ATP2B3):c.1277_1282del:p.Val426_Val427del	coding	Pathogenic
X	153594672	T	TA	G153594676A	CCNQ	NM_152274.5(CCNQ):c.303dup:p.Asn102Ter	coding	Pathogenic
X	153688627	AGAAGGGCCCCCTCATCGCGCCCGGGCCCGACGGGGCCCCGGCCAAGGGCGACGGCCCCGTGGGCCTGGGGACACCCGGCGGCCG	CCGTGT	A153688627C	SLC6A8	NM_005629.4(SLC6A8):c.53_137delinsCCGTGT:p.Lys18fs	coding	Pathogenic
X	153690374	GGT	G	G153690379T	SLC6A8	NM_005629.4(SLC6A8):c.263_264GT[2]:p.Phe90fs	coding	Pathogenic
X	153690427	TTTC	T	C153690433A	SLC6A8	NM_005629.4(SLC6A8):c.318_320CTT[1]:p.Phe107del	coding	Pathogenic/Likely_pathogenic
X	153690466	CG	C	G153690468C	SLC6A8	NM_005629.4(SLC6A8):c.356del:p.Gly119fs	coding	Pathogenic
X	153691325	T	TGATC	T153691331A	SLC6A8	NM_005629.4(SLC6A8):c.418_421dup:p.Val141fs	coding	Pathogenic
X	153691364	T	TG	C153691367G	SLC6A8	NM_005629.4(SLC6A8):c.457dup:p.Ala153fs	coding	Pathogenic
X	153691476	CTG	C	T153691479C	SLC6A8	NM_005629.4(SLC6A8):c.568_569TG[1]:p.Ala191fs	coding	Pathogenic
X	153691534	CCT	C	C153691535G	SLC6A8	NM_005629.4(SLC6A8):c.626_627del:p.Pro209fs	coding	Pathogenic
X	153692074	CTG	C	G153692078C	SLC6A8	NM_005629.4(SLC6A8):c.746_747GT[1]:p.Val250fs	coding	Pathogenic
X	153693287	ATTTTC	A	T153693295A	SLC6A8	NM_005629.4(SLC6A8):c.940_944TTCTT[1]:p.Phe315fs	coding	Pathogenic
X	153693289	TTTC	T	C153693292T	SLC6A8	NM_005629.4(SLC6A8):c.942_944del:p.Phe315del	coding	Pathogenic
X	153693299	T	TA	C153693301A	SLC6A8	NM_005629.4(SLC6A8):c.950dup:p.Tyr317Ter	coding	Pathogenic
X	153693321	TCA	T	C153693324G	SLC6A8	NM_005629.4(SLC6A8):c.972_973CA[1]:p.Thr325fs	coding	Pathogenic
X	153693348	TCAA	T	A153693356T	SLC6A8	NM_005629.4(SLC6A8):c.1000_1002AAC[2]:p.Asn336del	coding	Pathogenic
X	153693485	TCAAC	AAGA	T153693485A	SLC6A8	NM_005629.4(SLC6A8):c.1040_1044delinsAAGA:p.Ile347fs	coding	Pathogenic
X	153693510	TGGCTTCGTGGTCTTCTCCATCCTG	T	G153693517A	SLC6A8	NM_005629.4(SLC6A8):c.1072_1095del:p.Val358_Phe365del	coding	Pathogenic
X	153693548	C	CA	G153693550A	SLC6A8	NM_005629.4(SLC6A8):c.1104dup:p.Glu369fs	coding	Pathogenic
X	153693978	GTTC	G	T153693985A	SLC6A8	NM_005629.4(SLC6A8):c.1216_1218TTC[2]:p.Phe408del	coding	Pathogenic
X	153694134	TAGGTGTGGAGGGCTTCATCACC	T	A153694135G	SLC6A8	NM_005629.4(SLC6A8):c.1260_1281del:p.Gly421fs	coding	Pathogenic
X	153694154	ACCGGCCTCCTCGACCTCCTC	A	C153694165A	SLC6A8	NM_005629.4(SLC6A8):c.1290_1309del:p.Asp431fs	coding	Pathogenic
X	153694373	CTACTACTCGGCC	TTGACTACTACTACAG	C153694373T	SLC6A8	NM_005629.4(SLC6A8):c.1422_1434delinsTTGACTACTACTACAG:p.Tyr475_Ala478delinsTer	coding	Pathogenic
X	153694378	ACT	A	T153694380G	SLC6A8	NM_005629.4(SLC6A8):c.1429_1430del:p.Ser477fs	coding	Pathogenic
X	153694616	AC	A	C153694620G	SLC6A8	NM_005629.4(SLC6A8):c.1583del:p.Pro528fs	coding	Pathogenic
X	153694895	G	GCTCC	G153694901T	SLC6A8	NM_005629.4(SLC6A8):c.1767+8_1767+11dup	noncoding	Benign/Likely_benign
X	153704069	TGA	T	A153704073T	BCAP31	NM_001256447.2(BCAP31):c.363_364TC[1]:p.Leu122fs	coding	Pathogenic
X	153715572	TAG	T	G153715576T	BCAP31	NM_001256447.2(BCAP31):c.307_308CT[1]:p.Tyr104fs	coding	Pathogenic
X	153725248	GGCAGCCAGCCCAGGTGACATGCCGGT	G	A153725251T	ABCD1	NM_000033.4(ABCD1):c.-16_10del:p.Met1fs	noncoding	Pathogenic
X	153725282	AGGCCCC	CT	A153725282C	ABCD1	NM_000033.4(ABCD1):c.16_22delinsCT:p.Arg6fs	coding	Pathogenic
X	153725296	GCGGGGGAACACGCTGA	G	C153725297A	ABCD1	NM_000033.4(ABCD1):c.31_46del:p.Arg11fs	coding	Pathogenic
X	153725297	CG	C	G153725302A	ABCD1	NM_000033.4(ABCD1):c.36del:p.Asn13fs	coding	Pathogenic
X	153725333	GC	G	C153725336T	ABCD1	NM_000033.4(ABCD1):c.70del:p.Leu24fs	coding	Pathogenic
X	153725410	GCCCGCCGGGGAGCC	G	C153725412A	ABCD1	NM_000033.4(ABCD1):c.146_159del:p.Pro49fs	coding	Pathogenic
X	153725495	T	TGGCTCCTGC	G153725509C	ABCD1	NM_000033.4(ABCD1):c.234_242dup:p.Arg80_Leu82dup	coding	Pathogenic
X	153725514	T	TC	G153725520C	ABCD1	NM_000033.4(ABCD1):c.253dup:p.Arg85fs	coding	Pathogenic
X	153725673	AG	A	G153725674T	ABCD1	NM_000033.4(ABCD1):c.408del:p.Gln136fs	coding	Pathogenic
X	153725748	CG	C	G153725749T	ABCD1	NM_000033.4(ABCD1):c.483del:p.Phe162fs	coding	Pathogenic
X	153725760	GTCTGGTGGCCCACGCCTACCGCC	G	G153725764A	ABCD1	NM_000033.4(ABCD1):c.498_520del:p.Val167fs	coding	Pathogenic/Likely_pathogenic
X	153725787	ACTT	A	T153725790C	ABCD1	NM_000033.4(ABCD1):c.524_526del:p.Phe175del	coding	Pathogenic
X	153725801	A	ACCTACTAC	G153725811C	ABCD1	NM_000033.4(ABCD1):c.537_544dup:p.Arg182fs	coding	Pathogenic
X	153725987	GC	G	C153725989T	ABCD1	NM_000033.4(ABCD1):c.723del:p.Trp242fs	coding	Pathogenic
X	153726031	C	CAACG	T153726036A	ABCD1	NM_000033.4(ABCD1):c.766_769dup:p.Val257fs	coding	Pathogenic
X	153726135	CGGA	C	G153726140A	ABCD1	NM_000033.3(ABCD1):c.874_876delGAG:p.Glu292del	coding	Pathogenic
X	153729375	TG	T	G153729376T	ABCD1	NM_000033.4(ABCD1):c.1045del:p.Val349fs	coding	Pathogenic
X	153729404	CAG	C	A153729407T	ABCD1	NM_000033.4(ABCD1):c.1074_1075AG[1]:p.Glu359fs	coding	Pathogenic
X	153736130	A	AGGCAGCCT	T153736139G	ABCD1	NM_000033.4(ABCD1):c.1101_1108dup:p.Leu370fs	coding	Pathogenic
X	153736201	CTCCT	C	T153736202G	ABCD1	NM_000033.4(ABCD1):c.1172_1175del:p.Leu391fs	coding	Pathogenic
X	153736231	CG	C	G153736233A	ABCD1	NM_000033.4(ABCD1):c.1203del:p.Ile402fs	coding	Pathogenic
X	153736335	CCTCCCTCAGGTGACGGAGCTGG	C	C153736338G	ABCD1	NM_000033.4(ABCD1):c.1225-7_1239del	noncoding	Pathogenic
X	153736478	CT	C	T153736479G	ABCD1	NM_000033.4(ABCD1):c.1359del:p.Gly454fs	coding	Pathogenic
X	153737177	CAG	C	A153737178G	ABCD1	NM_000033.4(ABCD1):c.1415_1416del:p.Gln472fs	coding	Pathogenic
X	153737199	TC	T	C153737203A	ABCD1	NM_000033.4(ABCD1):c.1440del:p.Ile481fs	coding	Pathogenic
X	153740082	GC	G	C153740086T	ABCD1	NM_000033.4(ABCD1):c.1489-6del	noncoding	Benign/Likely_benign
X	153740130	TG	T	G153740132C	ABCD1	NM_000033.4(ABCD1):c.1529del:p.Gly510fs	coding	Pathogenic
X	153740153	TC	T	C153740155G	ABCD1	NM_000033.4(ABCD1):c.1552del:p.Arg518fs	coding	Pathogenic
X	153740222	TCTACATCC	T	T153740224G	ABCD1	NM_000033.4(ABCD1):c.1621_1628del:p.Tyr541fs	coding	Pathogenic
X	153740228	TC	T	C153740231G	ABCD1	NM_000033.4(ABCD1):c.1628del:p.Pro543fs	coding	Pathogenic
X	153740598	G	GC	G153740600C	ABCD1	NM_000033.4(ABCD1):c.1660dup:p.Arg554fs	coding	Pathogenic
X	153740607	GGT	G	T153740609A	ABCD1	NM_000033.4(ABCD1):c.1670_1671del:p.Val557fs	coding	Pathogenic
X	153740633	AC	A	C153740634A	ABCD1	NM_000033.4(ABCD1):c.1695del:p.Asp565fs	coding	Pathogenic
X	153740678	TGGACGTCGTGCACCTGCACCACATCCTGCAGCGGGAGGGAGGTAGGAGGCCTGGGGCTGGCAGCCACCCTTTGTCCCACCCTGGCCTCTCCCTTGGCCTCCAGGGAGTGAAGATTACCTCAACATCCAGAGTCTAAAGTGCCAGGTGCCACGGGGCGGGGCAGAGGCTGCTACCAGGGAGGACCAACACCACACAGATGGCCCCAGGTGCTCTAGGGAAGGGGGCACCTAGCAGGGATGTGCACCTCACTGGGGGACCCAGGATACCCTCTCCCAGAGAAAAGAGGTCTGAGCTGAGCCCTGCAGAATGCTGAGTGGTTACCCCGTCCGGAAGCCAGGGGCAGCAGGGCGGAGTGCGTTCCGAAGGCTTGGTGGTGCGAGAGGCTGGCTCACAGAGGGCCCTCGGGACCAGGCGGGAGCCTAGGCTTTCCCTGAGCAGGATCAGACGCTCTTGGAAGGACCATGGGGTGGTGGGCAGGGGCAGCCTGGGAGGGGCAGGCACATGTGTGCAGTGATGGCTACTGTCAAGAGGTTTGTGCAGACGCTTGGAGGGGGCTGGGGCCAGCAGAGTCAGGTGGATTCAGAGATGAGTTCACTGAAAAGGAGGCCAGACTGAGCTGTTGTCTTGTCCTGGGCTTATCAAGGAATACTGCTTGTCCACAGTGTCTGTCGGGCCGGAAGAGCGGAGGAGGAGAGGGGGCTGCAGCTACAGGGACACAGTAGATGGAGTGTTCAGTTCTGTCTTTGAATTCTGAGCCTCTGGGTTCTGCTTCCAGCCTGCACTGCTGGGTGCGAGATGGCCCTGGGCAAGGACCTCGCCTTGCTGGGGCTCCCCTTCACGGTTCAAGGGCACGGGCACCAAGCCCTCCCTCGGTGGCAACATGAGAAGAAGTGGCTCCTGCAGGAAATGGCCGGGGTGTTGTCACCTGCCTGTGGAGGAAGCGGGGACACAGGTGGCAATGGCAGTGGAGCAGCCCCTGGCCCGGCCCTGCCTCTTGCTCCTGCTGCCCTCAGCCTGGGAGCACGTGGCCCCTCCCGCCTCTGTGGCAGCCTGAATGCCCAGGGCCTGTGGCCGGCCAGCATGAGCCATTAGGATGGAGTTGAGCTGCGAGGAACAGAACGGGCCTCCCCGCAATAGTGGCTAAGATCATCTGTGAGTTTATCCTACTGAGCTGTTAGGTCCCAAGAGAGCCAGGCCACGGTTGCCAGGGCTGGCCCTGCTCTGTGAAGGCCCCAGGGCTCGAGGATTTTCTACCAGGTCACTCTGCTGTGTTTGGCCTCCGTTCCCAAAGTCACCTCATGATCCAGGAGGGCTGCTGCAGCCCTCACATCATGTCCCA	T	A153740681C	ABCD1	NM_000033.4(ABCD1):c.1742_1781-968del	coding	Pathogenic
X	153743023	CGGGT	C	G153743026C	ABCD1	NM_000033.4(ABCD1):c.1820_1823del:p.Gly607fs	coding	Pathogenic
X	153743058	AT	A	T153743059G	ABCD1	NM_000033.4(ABCD1):c.1853del:p.Met618fs	coding	Pathogenic
X	153743495	CCA	C	A153743503T	ABCD1	NM_000033.4(ABCD1):c.2000_2001AC[3]:p.His669fs	coding	Pathogenic
X	153771479	TC	T	C153771482T	PLXNB3	NM_005393.3(PLXNB3):c.2348-4del	noncoding	Benign
X	153796505	A	AC	G153796508C	SSR4	NM_006280.3(SSR4):c.141dup:p.Val48fs	coding	Pathogenic
X	153797128	GGGCACCCCTGACCCCAGCACCTCCCTTGTAGACTCAGGAAATCACTCAGCCCTTTTGATCATCCCGCCCCTGCTCACAGTCAACAGGGTTCCTATGCGTCCAGTTAGGCCCGGCCATGGGGATCTGGCCTTGTGCCCCCGTAGGGAAGACCAATGCAGAGGGCCAGTCACGGGATTGGTGAGTGTTACTTGGTACCTCCTGCCAGGGACACTGCAGCCCCCAACTGGGCCTAGCCTGCCCACCTGCAGGCCGTGTGAGCAGCGCACAGGGCTCCTCTGCCCACACCCAGAGGGGGCAGAAGGTGACCCTGCCTTTGTTCCCTCACCCAGAACATGGCTCTCTATGCTGACGTCGGTGGAAAACAATTCCCTGTCACTCGAGGCCAGGATGTGGGGCGTTATCAGGTGAGGGGCCAATGGTTCCCTTGCTAGGGGGCTCCCTGCTCCCGGGTGTGACCTGAAGCCCCAGGGGTGGCCGGTCAACCAGGGCCAGGGGCCGTGGGCTCTGGCTGCCGGAGTGCTGCAGTGTCGGCACTGGTGGTCAGGGTGGCCCCTCCGTGTCCACTCTGCCCACACTCTGCTCAACACCCAACCCAGGTGTCCTGGAGCCTGGACCACAAGAGCGCCCACGCAGGCACCTATGAGGTTAGATTCTTCGACGAGGAGTCCTACAGCCTCCTCAGGAAGGTGAGGACTCCTGTAGCCCACTGTGCTCCCCTGTCCCTGGGGAGCAGGATGGGCTGGGTTGGGAGGTGCTGGCAGCAAGTCCTGAGCTGGGTGGCCTTTCTGTGATCCTGTCCCTTCCTCAGTGTCTCTTGCCCATTTCTCTCCTTTCCTTTTCTGGGGCTTGGGCCGGTGTTCCTACCTGTCTTTCCCCTCCCCTCCCCACCCCCACACGCCA	G	T153797157C	SSR4	NM_006280.3(SSR4):c.187-301_352-15del	noncoding	Pathogenic
X	153797778	AT	A	T153797780C	SSR4	NM_006280.3(SSR4):c.317del:p.Phe106fs	coding	Pathogenic
X	153798074	CAG	C	A153798077G	SSR4	NM_006280.3(SSR4):c.356_357AG[1]:p.Arg120fs	coding	Pathogenic/Likely_pathogenic
X	153863516	TCA	T	C153863517G	L1CAM	NM_001278116.2(L1CAM):c.3489_3490del:p.Glu1164fs	coding	Pathogenic
X	153863888	TATTT	CCC	T153863888C	L1CAM	NM_001278116.2(L1CAM):c.3448_3452delinsGGG:p.Lys1150fs	coding	Pathogenic
X	153864947	CGG	C	G153864950T	L1CAM	NM_001278116.2(L1CAM):c.2918_2919del:p.Pro973fs	coding	Pathogenic
X	153864987	CT	C	T153864988C	L1CAM	NM_001278116.2(L1CAM):c.2879del:p.Glu960fs	coding	Pathogenic
X	153865453	ATG	A	G153865455C	L1CAM	NM_001278116.2(L1CAM):c.2593_2594del:p.His865fs	coding	Pathogenic
X	153865810	G	GC	T153865813C	L1CAM	NM_001278116.2(L1CAM):c.2440dup:p.Ala814fs	coding	Pathogenic
X	153865812	C	CT	G153865814T	L1CAM	NM_001278116.2(L1CAM):c.2438dup:p.Ala814fs	coding	Pathogenic
X	153866657	CCA	C	C153866658G	L1CAM	NM_001278116.2(L1CAM):c.2421_2422del:p.Gly808fs	coding	Pathogenic
X	153866850	TCCAGTCCATCCACCGGAGCGGCTGGAGGAGGCCAGCAGAAGAGGAGTTGGTTGGCCAAGAACA	T	T153866855C	L1CAM	NM_001278116.2(L1CAM):c.2209-42_2229del	coding	Pathogenic
X	153867509	AT	A	T153867514C	L1CAM	NM_001278116.2(L1CAM):c.1983del:p.Lys661fs	coding	Pathogenic
X	153868002	CA	C	A153868003C	L1CAM	NM_001278116.2(L1CAM):c.1823del:p.Val608fs	coding	Pathogenic
X	153868045	CT	C	T153868046G	L1CAM	NM_001278116.2(L1CAM):c.1780del:p.Ser594fs	coding	Pathogenic
X	153869893	C	CATATA	G153869899A	L1CAM	NM_001278116.2(L1CAM):c.1028_1032dup:p.Gly345fs	coding	Pathogenic
X	153870444	GC	G	C153870445T	L1CAM	NM_001278116.2(L1CAM):c.749del:p.Ser250fs	coding	Pathogenic
X	153871077	CG	C	G153871079A	L1CAM	NM_001278116.2(L1CAM):c.502del:p.Arg168fs	coding	Pathogenic
X	153872611	TG	T	G153872613C	L1CAM	NM_001278116.2(L1CAM):c.177del:p.Ser60fs	coding	Pathogenic
X	153875788	AG	A	G153875792C	L1CAM	NM_001278116.2(L1CAM):c.48del:p.Cys17fs	coding	Pathogenic
X	153875813	CA	C	A153875814C	L1CAM	NM_001278116.2(L1CAM):c.23del:p.Val8fs	coding	Pathogenic
X	153884253	G	GC	T153884255C	L1CAM	NM_001278116.2(L1CAM):c.-109+1811dup	noncoding	Benign
X	153885826	G	GCC	A153885828C	L1CAM	NM_001278116.2(L1CAM):c.-109+238_-109+239insGG	noncoding	Benign
X	153885830	GT	G	T153885832A	L1CAM	NM_001278116.2(L1CAM):c.-109+234del	noncoding	Benign
X	153905167	TC	T	C153905169G	AVPR2	NM_000054.6(AVPR2):c.24del:p.Ala9fs	coding	Pathogenic
X	153905607	CG	C	G153905608C	AVPR2	NM_000054.6(AVPR2):c.102del:p.Leu35fs	coding	Pathogenic
X	153905864	A	ATGGTGGGCATGTATGCCTCCTCCTACATGATCCTGGCCATGACGCTGGACCGCCACCGTGCCATCTGC	C153905933T	AVPR2	NM_000054.6(AVPR2):c.359_426dup:p.Arg143delinsTrpTrpAlaCysMetProProProThrTer	coding	Pathogenic
X	153905886	CCTA	C	T153905888A	AVPR2	NM_000054.6(AVPR2):c.382_384del:p.Tyr128del	coding	Pathogenic/Likely_pathogenic
X	153905946	C	CG	T153905948G	AVPR2	NM_000054.6(AVPR2):c.441dup:p.Tyr148fs	coding	Pathogenic
X	153906058	AG	A	G153906060T	AVPR2	NM_000054.6(AVPR2):c.554del:p.Gly185fs	coding	Pathogenic/Likely_pathogenic
X	153906238	TG	T	G153906244C	AVPR2	NM_000054.6(AVPR2):c.738del:p.Arg247fs	coding	Pathogenic
X	153906337	GGTC	G	G153906341T	AVPR2	NM_000054.6(AVPR2):c.832GTC[1]:p.Val279del	coding	Pathogenic
X	153906343	C	CT	A153906345T	AVPR2	NM_000054.6(AVPR2):c.838dup:p.Tyr280fs	coding	Pathogenic
X	153906574	AC	A	C153906578T	AVPR2	NM_000054.6(AVPR2):c.966del:p.Trp323fs	coding	Pathogenic
X	153930199	CTT	C	T153930201C	NAA10	NM_003491.4(NAA10):c.494_495del:p.Lys165fs	coding	Pathogenic
X	154021863	TG	T	G154021873T	MECP2	NM_001110792.2(MECP2):c.*8503del	noncoding	Benign
X	154021863	T	TG	T154021874G	MECP2	NM_001110792.2(MECP2):c.*8503dup	noncoding	Benign
X	154024879	G	GAT	A154024891T	MECP2	NM_001110792.2(MECP2):c.*5478_*5479AT[6]	noncoding	Benign
X	154026279	GAC	G	C154026283G	MECP2	NM_001110792.2(MECP2):c.*4084_*4085GT[1]	noncoding	Benign
X	154026922	AGTAACTAACAACTGGAACAAGGGTGGGGGAGACTGTGGATGTGGCCTTAATGACCTAGCCCCATGGGTACTGGAAAGCTGTCGGTCAATTCTGCTGTTCACAAATTCACTGAAAGAGGCCCCCATCTTCATAATGTTCAAGTACAGACAAAATTGAAATTGAGGTCACACCCCAAAACTGGGCCGGACACAGCTGGTGAGAATCCTGCAGCTTAAGGCTTTCCCTCCAACCTCCTGTCAACCTGACCCCAAGGCAGGGGCAGCATGAGAGCTGCAGGGCCCCTGCCTGCCAGGGCGATAAACCGCCAAGGCTGCCTGCTGAAAGGCGACTGACTCGTGATGCCTTTGGGAAAGACGAGGGAATGAGGAAGAAAGGGGGAAATAGAGAGAAAACCCTAAGGAGCCTCAGGCCCCACTGGCAGCTCTGGAATAAACTGGAAGGGAAAGAGGCTGGGCAACTGCCTCTTTGAGGGAGCTGCAGGTGGGGCCCGAATGAAATAAAGTGACGCTTGAAATGCTGTGTTCCCAACCACGACTGCCCCATCGGCCCTGAATGAACTGTCATGGGTGACAGGGGGGCCTGGTGGGCCACGCACTCCTCTTACCAGGACCAGATGACGCCCAGGTGACGGGGAAGCAGCTCTGGACAATGATTCCAGAAGCCACATTACATTTGACTAAGTATAATACATAAAAACCCAACTGACCAAAATAAACATCTTCTCAGTGACAACCTGGTCGGATGCTGCGCTCTCGTGGATAAGTGTCCTTTGGTAGTGCCAGGAGTTCGAGGCCACTATGGGGGCAGGAGCCTTCTGTCCTTGGAGGAAGAGTTCTGGAGGACTCACCCTCTCTTCTGACCCCCCTTCCCTTCCTGGGGAAGAGTCAGAAGTGAAGCTGGGGGGGTCATCAGCAGAGCAGGTGGAAGGGATCAGGGATCAGGGATTGGGCTGATGGGAGTTTGGTTGCAGGACTTGCTTTTACAGCATAAGGAAATGGACACATATATGCTAGAAAGTCCAACTATGAGACTCTACAAACAGAACGGGGCAAACTCCCTCACTTCTAACCATTCCAGAAGAGACAAACACGGTTTTTTCTTAAGCTACTGATTGGAACTGTCAACTATGGTTCCTGATCACTAAAGACTGGCAAGGAAGTGCTAGACAGTTTCTATGATGTTTCACTCCTTCATGATTACACCATAGTAAGGAAGCCAGGGACAATAACTGAAATACACAAGACAACACACACTTGACAGTTCATGGCAGCAGCTCACATGGGACATGCCTGTGGGTGTTTCTGGAAGCATAAGACTGCTGTCTCATTTGCTACTTTGATAAGGTACTTCTCAGTTGGACAGATTTAGATATAAGAGACATCTCTGTAAACACAGAAAAGGATATACCAATATGATGAAGATATGCAGCTAGATAAGGACTTCCTGAACAGAGGTTAAAAAGATGGGATCCCACATGAAAACTGATCAATTAAAAACCCACAGCAAGCCCATGCCTCTAAGCCCCTACACCACAGCTATGGACCAGACAGACAGTGAAATGTGTGGTGTTCTGGCCCCCTGTCTGCATCGAGCAAAAGCAAAACATTGCCATTCAAGAAGAACTCCGAGGGAAAAGGGGGAGCAGAGGAAGGGCTGGGGACCCAGGTACTGGTCCCAGCTCGGGTCTTGGGAGTTCTGCATTGGTACCGCTACTGCCCTGCTGCACTACGCTAGACTCTGGACTTCTGAGTGAGGTCAAGGTCGGCTGGCATGGAGCCCCTGTTGGGCCACTCGATGACTGGCAGGCCACAGGAGGCCTCTGTGCTTTCCTCAACTACCAAATCGGGCCCAGCTCCTCCAGTCCACTTCTCTAGAGTAGAAGGGTGAAAAGGCTCGTTGTTCAGGGTGGGAAATGCCTTTTGCTTTTTCTTACCAGGGAAGAGGGGGCTACCTAGGAGAGCAAGACCTTGCTGCTCTCTTGCTCTTCACAGACAGGCCAGGTCGGACTCAGCAGAGCCCAAGGCCTCCTCAGGGCTCAAAACAGGGTGGGGCTGGTACTGGCAGCAGGAGGACAAAGGGCAGGCAGAGTTCTGGGGACTGGAGCCGACAAGTGTGGTTGGGCACCGCGGCTGCCTGGAAGAGAAGGGATGAACTAGGAAGGAGGAGGATGGAGGAAGGGAAAGAAGTGAAAGGATGAAATGAACAAAAGGCAGAAATGGAAGGGGAGAAGAGAAACCAATCAGGAAGTCCTTATAAAATTGCAGCAAACACTTAGAGTTTCGGAGCTTCGTGGGAACCCTATGTGCTGAGCCCACTTTAAAACAAGCGCAGGTATATATACAAATCCAGGTAGTTCTCAACACTGTCACATCTGGTGGCTTGAGGGACTAAATGTCACCAATTCAAGCCAGTTTGCTCTCAGAGCATCTGTTTGTTTTGAAGTGGGAACATGAAGACTCAATAGTGCAAATAATTCTAAGCTGTCCCTAAAGGAGAATTGGAAAGTAACTGGAAGAACATTTTCTTCTCCTCCCCCTTTGCCCCCTCCCCTGTCCACTAAGTCACAGACTGCTCTGAGTGATTAGGAATCCCTCTCACCCCGCTGTGCTCTGCCCGGCCTGACCCCAGGCCAGCCTGCCTGCACCTTGTCCTACTGCCTCCATGGCCTCTAGCGCCACCCGTTGGAGGACGTCCCTTGAGAATGGACCATGCCACCTCACCCTGGGCCATCCTCTCCTGTGGTTCAGGCCAGTCTACACCCAGTAGTTCAAGGGACTCCCCCCTCCTAGCCATGCCAGAGCTGGAGCAGACAGGTGCCACTTTCCTGTCCTGTGAAGCGTCCTTGCCAGTTTTGGATTGGGGCTGGTGTGGGGCCAGACTTGAGCCACCACGGGTGGGATCGCACAGGCCATAGCCACTGGTCATATCCATCTTCTCTAAAGAATCCAACTGTCTCTCCTGCCTCACACCTCCCTGTCCCAACGTGGTTGGGAGTGGGGGAGGTGGGGGGAGCTGGGGGAGCTGTAGACGGGGCACTGATGGCACCGAAAACGGGAGTGTCCTCTCAACTGCTCTGTCGCTCTGTCTCTAACGACCACATGGGGGAAAGGTTTGGGCGGGAGGGGAGGTGCCTGGTCAACAGCTTGTCTGGTCAGTAGTATCTGCAGCAAGCCTTGTTGAAGGAGCCTAGTTTAGAAAAGTGCAAAGCTACTTCTGGCCCTGGTTAGGTCTTCAACCTGACTGTGCTTGTCGGTAAGAAAAACATCCCCAATGCTCCAACTACTCCCACCCTGAAGCCACGAAACTCTAAGTTTACTGAAAGAAAAAAAAATATTTTTTATTTCAGTTAATCGGGAAGCTTTGTCAGAGCCCTACCCATAAGGAGAAGAGACAACAGCTGCCTTTATTCTTGTTGGTTTGCTTTGCAATCCGCTCCGTGTAAAGTCAGCTAACTCTCTCGGTCACGGGCGTCCGGCTGTCCACAGGCTCCTCTCTGTTTGGCCTTGGCATGGAGGATGAAACAATGTCTTTGCGCTCTCCCTCCCCTCGGTGTTTGTACTTTTCTGCGGCCGTGGCGGCGGTGGCAACCGCGGGCTGAGTCTTAGCTGGCTCCTTGGGGCAGCCGTCGCTCTCCAGTGAGCCTCCTCTGGGCATCTTCTCCTCTTTGCAGACGCTGCTGCTCAAGTCCTGGGGCTCAGGGGGGCTGGTGGGGTCCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGC	A	G154026923A	MECP2	NM_001110792.2(MECP2):c.1194_*3444del:p.Pro399fs	noncoding	Pathogenic
X	154027842	GGTGGAAGGGATCAGGGATCAGGGATTGGGCTGATGGGAGTTTGGTTGCAGGACTTGCTTTTACAGCATAAGGAAATGGACACATATATGCTAGAAAGTCCAACTATGAGACTCTACAAACAGAACGGGGCAAACTCCCTCACTTCTAACCATTCCAGAAGAGACAAACACGGTTTTTTCTTAAGCTACTGATTGGAACTGTCAACTATGGTTCCTGATCACTAAAGACTGGCAAGGAAGTGCTAGACAGTTTCTATGATGTTTCACTCCTTCATGATTACACCATAGTAAGGAAGCCAGGGACAATAACTGAAATACACAAGACAACACACACTTGACAGTTCATGGCAGCAGCTCACATGGGACATGCCTGTGGGTGTTTCTGGAAGCATAAGACTGCTGTCTCATTTGCTACTTTGATAAGGTACTTCTCAGTTGGACAGATTTAGATATAAGAGACATCTCTGTAAACACAGAAAAGGATATACCAATATGATGAAGATATGCAGCTAGATAAGGACTTCCTGAACAGAGGTTAAAAAGATGGGATCCCACATGAAAACTGATCAATTAAAAACCCACAGCAAGCCCATGCCTCTAAGCCCCTACACCACAGCTATGGACCAGACAGACAGTGAAATGTGTGGTGTTCTGGCCCCCTGTCTGCATCGAGCAAAAGCAAAACATTGCCATTCAAGAAGAACTCCGAGGGAAAAGGGGGAGCAGAGGAAGGGCTGGGGACCCAGGTACTGGTCCCAGCTCGGGTCTTGGGAGTTCTGCATTGGTACCGCTACTGCCCTGCTGCACTACGCTAGACTCTGGACTTCTGAGTGAGGTCAAGGTCGGCTGGCATGGAGCCCCTGTTGGGCCACTCGATGACTGGCAGGCCACAGGAGGCCTCTGTGCTTTCCTCAACTACCAAATCGGGCCCAGCTCCTCCAGTCCACTTCTCTAGAGTAGAAGGGTGAAAAGGCTCGTTGTTCAGGGTGGGAAATGCCTTTTGCTTTTTCTTACCAGGGAAGAGGGGGCTACCTAGGAGAGCAAGACCTTGCTGCTCTCTTGCTCTTCACAGACAGGCCAGGTCGGACTCAGCAGAGCCCAAGGCCTCCTCAGGGCTCAAAACAGGGTGGGGCTGGTACTGGCAGCAGGAGGACAAAGGGCAGGCAGAGTTCTGGGGACTGGAGCCGACAAGTGTGGTTGGGCACCGCGGCTGCCTGGAAGAGAAGGGATGAACTAGGAAGGAGGAGGATGGAGGAAGGGAAAGAAGTGAAAGGATGAAATGAACAAAAGGCAGAAATGGAAGGGGAGAAGAGAAACCAATCAGGAAGTCCTTATAAAATTGCAGCAAACACTTAGAGTTTCGGAGCTTCGTGGGAACCCTATGTGCTGAGCCCACTTTAAAACAAGCGCAGGTATATATACAAATCCAGGTAGTTCTCAACACTGTCACATCTGGTGGCTTGAGGGACTAAATGTCACCAATTCAAGCCAGTTTGCTCTCAGAGCATCTGTTTGTTTTGAAGTGGGAACATGAAGACTCAATAGTGCAAATAATTCTAAGCTGTCCCTAAAGGAGAATTGGAAAGTAACTGGAAGAACATTTTCTTCTCCTCCCCCTTTGCCCCCTCCCCTGTCCACTAAGTCACAGACTGCTCTGAGTGATTAGGAATCCCTCTCACCCCGCTGTGCTCTGCCCGGCCTGACCCCAGGCCAGCCTGCCTGCACCTTGTCCTACTGCCTCCATGGCCTCTAGCGCCACCCGTTGGAGGACGTCCCTTGAGAATGGACCATGCCACCTCACCCTGGGCCATCCTCTCCTGTGGTTCAGGCCAGTCTACACCCAGTAGTTCAAGGGACTCCCCCCTCCTAGCCATGCCAGAGCTGGAGCAGACAGGTGCCACTTTCCTGTCCTGTGAAGCGTCCTTGCCAGTTTTGGATTGGGGCTGGTGTGGGGCCAGACTTGAGCCACCACGGGTGGGATCGCACAGGCCATAGCCACTGGTCATATCCATCTTCTCTAAAGAATCCAACTGTCTCTCCTGCCTCACACCTCCCTGTCCCAACGTGGTTGGGAGTGGGGGAGGTGGGGGGAGCTGGGGGAGCTGTAGACGGGGCACTGATGGCACCGAAAACGGGAGTGTCCTCTCAACTGCTCTGTCGCTCTGTCTCTAACGACCACATGGGGGAAAGGTTTGGGCGGGAGGGGAGGTGCCTGGTCAACAGCTTGTCTGGTCAGTAGTATCTGCAGCAAGCCTTGTTGAAGGAGCCTAGTTTAGAAAAGTGCAAAGCTACTTCTGGCCCTGGTTAGGTCTTCAACCTGACTGTGCTTGTCGGTAAGAAAAACATCCCCAATGCTCCAACTACTCCCACCCTGAAGCCACGAAACTCTAAGTTTACTGAAAGAAAAAAAAATATTTTTTATTTCAGTTAATCGGGAAGCTTTGTCAGAGCCCTACCCATAAGGAGAAGAGACAACAGCTGCCTTTATTCTTGTTGGTTTGCTTTGCAATCCGCTCCGTGTAAAGTCAGCTAACTCTCTCGGTCACGGGCGTCCGGCTGTCCACAGGCTCCTCTCTGTTTGGCCTTGGCATGGAGGATGAAACAATGTCTTTGCGCTCTCCCTCCCCTCGGTGTTTGTACTTTTCTGCGGCCGTGGCGGCGGTGGCAACCGCGGGCTGAGTCTTAGCTGGCTCCTTGGGGCAGCCGTCGCTCTCCAGTGAGCCTCCTCTGGGCATCTTCTCCTCTTTGCAGACGCTGCTGCTCAAGTCCTGGGGCTCAGGGGGGCTGGTGGGGTCCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCAGGGGTGGGAGCAGTGGCACGGGGGCCTTTGGGGACTCTGAGTGGTGGTGATGGTGGTGGTGCTCCTTCTTGGGGGGTGA	G	T154027844G	MECP2	NM_001110792.2(MECP2):c.1114_*2524del:p.Ser372fs	noncoding	Pathogenic
X	154028066	AAGACTGGCAAGGAAGTGCTAGACAGTTTCTATGATGTTTCACTCCTTCATGATTACACCATAGTAAGGAAGCCAGGGACAATAACTGAAATACACAAGACAACACACACTTGACAGTTCATGGCAGCAGCTCACATGGGACATGCCTGTGGGTGTTTCTGGAAGCATAAGACTGCTGTCTCATTTGCTACTTTGATAAGGTACTTCTCAGTTGGACAGATTTAGATATAAGAGACATCTCTGTAAACACAGAAAAGGATATACCAATATGATGAAGATATGCAGCTAGATAAGGACTTCCTGAACAGAGGTTAAAAAGATGGGATCCCACATGAAAACTGATCAATTAAAAACCCACAGCAAGCCCATGCCTCTAAGCCCCTACACCACAGCTATGGACCAGACAGACAGTGAAATGTGTGGTGTTCTGGCCCCCTGTCTGCATCGAGCAAAAGCAAAACATTGCCATTCAAGAAGAACTCCGAGGGAAAAGGGGGAGCAGAGGAAGGGCTGGGGACCCAGGTACTGGTCCCAGCTCGGGTCTTGGGAGTTCTGCATTGGTACCGCTACTGCCCTGCTGCACTACGCTAGACTCTGGACTTCTGAGTGAGGTCAAGGTCGGCTGGCATGGAGCCCCTGTTGGGCCACTCGATGACTGGCAGGCCACAGGAGGCCTCTGTGCTTTCCTCAACTACCAAATCGGGCCCAGCTCCTCCAGTCCACTTCTCTAGAGTAGAAGGGTGAAAAGGCTCGTTGTTCAGGGTGGGAAATGCCTTTTGCTTTTTCTTACCAGGGAAGAGGGGGCTACCTAGGAGAGCAAGACCTTGCTGCTCTCTTGCTCTTCACAGACAGGCCAGGTCGGACTCAGCAGAGCCCAAGGCCTCCTCAGGGCTCAAAACAGGGTGGGGCTGGTACTGGCAGCAGGAGGACAAAGGGCAGGCAGAGTTCTGGGGACTGGAGCCGACAAGTGTGGTTGGGCACCGCGGCTGCCTGGAAGAGAAGGGATGAACTAGGAAGGAGGAGGATGGAGGAAGGGAAAGAAGTGAAAGGATGAAATGAACAAAAGGCAGAAATGGAAGGGGAGAAGAGAAACCAATCAGGAAGTCCTTATAAAATTGCAGCAAACACTTAGAGTTTCGGAGCTTCGTGGGAACCCTATGTGCTGAGCCCACTTTAAAACAAGCGCAGGTATATATACAAATCCAGGTAGTTCTCAACACTGTCACATCTGGTGGCTTGAGGGACTAAATGTCACCAATTCAAGCCAGTTTGCTCTCAGAGCATCTGTTTGTTTTGAAGTGGGAACATGAAGACTCAATAGTGCAAATAATTCTAAGCTGTCCCTAAAGGAGAATTGGAAAGTAACTGGAAGAACATTTTCTTCTCCTCCCCCTTTGCCCCCTCCCCTGTCCACTAAGTCACAGACTGCTCTGAGTGATTAGGAATCCCTCTCACCCCGCTGTGCTCTGCCCGGCCTGACCCCAGGCCAGCCTGCCTGCACCTTGTCCTACTGCCTCCATGGCCTCTAGCGCCACCCGTTGGAGGACGTCCCTTGAGAATGGACCATGCCACCTCACCCTGGGCCATCCTCTCCTGTGGTTCAGGCCAGTCTACACCCAGTAGTTCAAGGGACTCCCCCCTCCTAGCCATGCCAGAGCTGGAGCAGACAGGTGCCACTTTCCTGTCCTGTGAAGCGTCCTTGCCAGTTTTGGATTGGGGCTGGTGTGGGGCCAGACTTGAGCCACCACGGGTGGGATCGCACAGGCCATAGCCACTGGTCATATCCATCTTCTCTAAAGAATCCAACTGTCTCTCCTGCCTCACACCTCCCTGTCCCAACGTGGTTGGGAGTGGGGGAGGTGGGGGGAGCTGGGGGAGCTGTAGACGGGGCACTGATGGCACCGAAAACGGGAGTGTCCTCTCAACTGCTCTGTCGCTCTGTCTCTAACGACCACATGGGGGAAAGGTTTGGGCGGGAGGGGAGGTGCCTGGTCAACAGCTTGTCTGGTCAGTAGTATCTGCAGCAAGCCTTGTTGAAGGAGCCTAGTTTAGAAAAGTGCAAAGCTACTTCTGGCCCTGGTTAGGTCTTCAACCTGACTGTGCTTGTCGGTAAGAAAAACATCCCCAATGCTCCAACTACTCCCACCCTGAAGCCACGAAACTCTAAGTTTACTGAAAGAAAAAAAAATATTTTTTATTTCAGTTAATCGGGAAGCTTTGTCAGAGCCCTACCCATAAGGAGAAGAGACAACAGCTGCCTTTATTCTTGTTGGTTTGCTTTGCAATCCGCTCCGTGTAAAGTCAGCTAACTCTCTCGGTCACGGGCGTCCGGCTGTCCACAGGCTCCTCTCTGTTTGGCCTTGGCATGGAGGATGAAACAATGTCTTTGCGCTCTCCCTCCCCTCGGTGTTTGTACTTTTCTGCGGCCGTGGCGGCGGTGGCAACCGCGGGCTGAGTCTTAGCTGGCTCCTTGGGGCAGCCGTCGCTCTCCAGTGAGCCTCCTCTGGGCATCTTCTCCTCTTTGCAGACGCTGCTGCTCAAGTCCTGGGGCTCAGGGGGGCTGGTGGGGTCCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCAGGGGTGGGAGCAGTGGCACGGGGGCCTTTGGGGACTCTGAGTGGTGGTGATGGTGGTGGTGCTCCTTCTTGGGGGGTGAGGAGGCGCTGCTGCTGCGCCCCTTG	A	A154028067G	MECP2	NM_001110792.2(MECP2):c.1089_*2300del:p.Pro363_Ter499delinsXaa	noncoding	Pathogenic
X	154029422	GGAAAGTAACTGGAAGAACATTTTCTTCTCCTCCCCCTTTGCCCCCTCCCCTGTCCACTAAGTCACAGACTGCTCTGAGTGATTAGGAATCCCTCTCACCCCGCTGTGCTCTGCCCGGCCTGACCCCAGGCCAGCCTGCCTGCACCTTGTCCTACTGCCTCCATGGCCTCTAGCGCCACCCGTTGGAGGACGTCCCTTGAGAATGGACCATGCCACCTCACCCTGGGCCATCCTCTCCTGTGGTTCAGGCCAGTCTACACCCAGTAGTTCAAGGGACTCCCCCCTCCTAGCCATGCCAGAGCTGGAGCAGACAGGTGCCACTTTCCTGTCCTGTGAAGCGTCCTTGCCAGTTTTGGATTGGGGCTGGTGTGGGGCCAGACTTGAGCCACCACGGGTGGGATCGCACAGGCCATAGCCACTGGTCATATCCATCTTCTCTAAAGAATCCAACTGTCTCTCCTGCCTCACACCTCCCTGTCCCAACGTGGTTGGGAGTGGGGGAGGTGGGGGGAGCTGGGGGAGCTGTAGACGGGGCACTGATGGCACCGAAAACGGGAGTGTCCTCTCAACTGCTCTGTCGCTCTGTCTCTAACGACCACATGGGGGAAAGGTTTGGGCGGGAGGGGAGGTGCCTGGTCAACAGCTTGTCTGGTCAGTAGTATCTGCAGCAAGCCTTGTTGAAGGAGCCTAGTTTAGAAAAGTGCAAAGCTACTTCTGGCCCTGGTTAGGTCTTCAACCTGACTGTGCTTGTCGGTAAGAAAAACATCCCCAATGCTCCAACTACTCCCACCCTGAAGCCACGAAACTCTAAGTTTACTGAAAGAAAAAAAAATATTTTTTATTTCAGTTAATCGGGAAGCTTTGTCAGAGCCCTACCCATAAGGAGAAGAGACAACAGCTGCCTTTATTCTTGTTGGTTTGCTTTGCAATCCGCTCCGTGTAAAGTCAGCTAACTCTCTCGGTCACGGGCGTCCGGCTGTCCACAGGCTCCTCTCTGTTTGGCCTTGGCATGGAGGATGAAACAATGTCTTTGCGCTCTCCCTCCCCTCGGTGTTTGTACTTTTCTGCGGCCGTGGCGGCGGTGGCAACCGCGGGCTGAGTCTTAGCTGGCTCCTTGGGGCAGCCGTCGCTCTCCAGTGAGCCTCCTCTGGGCATCTTCTCCTCTTTGCAGACGCTGCTGCTCAAGTCCTGGGGCTCAGGGGGGCTGGTGGGGTCCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCA	G	A154029424G	MECP2	NM_001110792.2(MECP2):c.1193_*944del:p.Leu398fs	noncoding	Pathogenic
X	154029491	C	CT	G154029493T	MECP2	NM_001110792.2(MECP2):c.*875dup	noncoding	Benign
X	154029503	ATTAGGAATCCCTCTCACCCCGCTGTGCTCTGCCCGGCCTGACCCCAGGCCAGCCTGCCTGCACCTTGTCCTACTGCCTCCATGGCCTCTAGCGCCACCCGTTGGAGGACGTCCCTTGAGAATGGACCATGCCACCTCACCCTGGGCCATCCTCTCCTGTGGTTCAGGCCAGTCTACACCCAGTAGTTCAAGGGACTCCCCCCTCCTAGCCATGCCAGAGCTGGAGCAGACAGGTGCCACTTTCCTGTCCTGTGAAGCGTCCTTGCCAGTTTTGGATTGGGGCTGGTGTGGGGCCAGACTTGAGCCACCACGGGTGGGATCGCACAGGCCATAGCCACTGGTCATATCCATCTTCTCTAAAGAATCCAACTGTCTCTCCTGCCTCACACCTCCCTGTCCCAACGTGGTTGGGAGTGGGGGAGGTGGGGGGAGCTGGGGGAGCTGTAGACGGGGCACTGATGGCACCGAAAACGGGAGTGTCCTCTCAACTGCTCTGTCGCTCTGTCTCTAACGACCACATGGGGGAAAGGTTTGGGCGGGAGGGGAGGTGCCTGGTCAACAGCTTGTCTGGTCAGTAGTATCTGCAGCAAGCCTTGTTGAAGGAGCCTAGTTTAGAAAAGTGCAAAGCTACTTCTGGCCCTGGTTAGGTCTTCAACCTGACTGTGCTTGTCGGTAAGAAAAACATCCCCAATGCTCCAACTACTCCCACCCTGAAGCCACGAAACTCTAAGTTTACTGAAAGAAAAAAAAATATTTTTTATTTCAGTTAATCGGGAAGCTTTGTCAGAGCCCTACCCATAAGGAGAAGAGACAACAGCTGCCTTTATTCTTGTTGGTTTGCTTTGCAATCCGCTCCGTGTAAAGTCAGCTAACTCTCTCGGTCACGGGCGTCCGGCTGTCCACAGGCTCCTCTCTGTTTGGCCTTGGCATGGAGGATGAAACAATGTCTTTGCGCTCTCCCTCCCCTCGGTGTTTGTACTTTTCTGCGGCCGTGGCGGCGGTGGCAACCGCGGGCTGAGTCTTAGCTGGCTCCTTGGGGCAGCCGTCGCTCTCCAGTGAGCCTCCTCTGGGCATCTTCTCCTCTTTG	A	T154029504C	MECP2	NM_001110792.2(MECP2):c.1275_*863del:p.Cys425_Ter499delinsXaa	noncoding	Pathogenic
X	154029799	GACTTGAGCCACCACGGGTGGGATCGCACAGGCCATAGCCACTGGTCATATCCATCTTCTCTAAAGAATCCAACTGTCTCTCCTGCCTCACACCTCCCTGTCCCAACGTGGTTGGGAGTGGGGGAGGTGGGGGGAGCTGGGGGAGCTGTAGACGGGGCACTGATGGCACCGAAAACGGGAGTGTCCTCTCAACTGCTCTGTCGCTCTGTCTCTAACGACCACATGGGGGAAAGGTTTGGGCGGGAGGGGAGGTGCCTGGTCAACAGCTTGTCTGGTCAGTAGTATCTGCAGCAAGCCTTGTTGAAGGAGCCTAGTTTAGAAAAGTGCAAAGCTACTTCTGGCCCTGGTTAGGTCTTCAACCTGACTGTGCTTGTCGGTAAGAAAAACATCCCCAATGCTCCAACTACTCCCACCCTGAAGCCACGAAACTCTAAGTTTACTGAAAGAAAAAAAAATATTTTTTATTTCAGTTAATCGGGAAGCTTTGTCAGAGCCCTACCCATAAGGAGAAGAGACAACAGCTGCCTTTATTCTTGTTGGTTTGCTTTGCAATCCGCTCCGTGTAAAGTCAGCTAACTCTCTCGGTCACGGGCGTCCGGCTGTCCACAGGCTCCTCTCTGTTTGGCCTTGGCATGGAGGATGAAACAATGTCTTTGCGCTCTCCCTCCCCTCGGTGTTTGTACTTTTCTGCGGCCGTGGCGGCGGTGGCAACCGCGGGCTGAGTCTTAGCTGGCTCCTTGGGGCAGCCGTCGCTCTCCAGTGAGCCTCCTCTGGGCATCTTCTCCTCTTTGCAGACGCTGCTGCTCAAGTCCTGGGGCTCAGGGGGGCTGGTGGGGTCCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCAGGGGTGGGAGCAGTGGCACGGGGGCCTT	CCACGG	G154029799C	MECP2	NM_001110792.2(MECP2):c.1165_*568delinsCCGTGG:p.Lys389fs	noncoding	Pathogenic
X	154029914	GAGTGGGGGAGGTGGGGGGAGCTGGGGGAGCTGTAGACGGGGCACTGATGGCACCGAAAACGGGAGTGTCCTCTCAACTGCTCTGTCGCTCTGTCTCTAACGACCACATGGGGGAAAGGTTTGGGCGGGAGGGGAGGTGCCTGGTCAACAGCTTGTCTGGTCAGTAGTATCTGCAGCAAGCCTTGTTGAAGGAGCCTAGTTTAGAAAAGTGCAAAGCTACTTCTGGCCCTGGTTAGGTCTTCAACCTGACTGTGCTTGTCGGTAAGAAAAACATCCCCAATGCTCCAACTACTCCCACCCTGAAGCCACGAAACTCTAAGTTTACTGAAAGAAAAAAAAATATTTTTTATTTCAGTTAATCGGGAAGCTTTGTCAGAGCCCTACCCATAAGGAGAAGAGACAACAGCTGCCTTTATTCTTGTTGGTTTGCTTTGCAATCCGCTCCGTGTAAAGTCAGCTAACTCTCTCGGTCACGGGCGTCCGGCTGTCCACAGGCTCCTCTCTGTTTGGCCTTGGCATGGAGGATGAAACAATGTCTTTGCGCTCTCCCTCCCCTCGGTGTTTGTACTTTTCTGCGGCCGTGGCGGCGGTGGCAACCGCGGGCTGAGTCTTAGCTGGCTCCTTGGGGCAGCCGTCGCTCTCCAGTGAGCCTCCTCTGGGCATCTTCTCCTCTTTGCAGACGCTGCTGCTCAAGTCCTGGGGCTCAGGGGGGCTGGTGGGGTCCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCAGGGGTGGGAGC	G	G154029920C	MECP2	NM_001110792.2(MECP2):c.1182_*452del:p.Leu394_Ter499delinsXaa	noncoding	Pathogenic
X	154030105	GAGCCTAGTTTAGAAAAGTGCAAAGCTACTTCTGGCCCTGGTTAGGTCTTCAACCTGACTGTGCTTGTCGGTAAGAAAAACATCCCCAATGCTCCAACTACTCCCACCCTGAAGCCACGAAACTCTAAGTTTACTGAAAGAAAAAAAAATATTTTTTATTTCAGTTAATCGGGAAGCTTTGTCAGAGCCCTACCCATAAGGAGAAGAGACAACAGCTGCCTTTATTCTTGTTGGTTTGCTTTGCAATCCGCTCCGTGTAAAGTCAGCTAACTCTCTCGGTCACGGGCGTCCGGCTGTCCACAGGCTCCTCTCTGTTTGGCCTTGGCATGGAGGATGAAACAATGTCTTTGCGCTCTCCCTCCCCTCGGTGTTTGTACTTTTCTGCGGCCGTGGCGGCGGTGGCAACCGCGGGCTGAGTCTTAGCTGGCTCCTTGGGGCAGCCGTCGCTCTCCAGTGAGCCTCCTCTGGGCATCTTCTCCTCTTTGCAGACGCTGCTGCTCAAGTCCTGGGGCTCAGGGGGGCTGGTGGGGTCCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGC	G	C154030108G	MECP2	NM_001110792.2(MECP2):c.1194_*261del:p.Pro399fs	noncoding	Pathogenic
X	154030241	AAAGAAAAAAAAATATTTTTTATTTCAGTTAATCGGGAAGCTTTGTCAGAGCCCTACCCATAAGGAGAAGAGACAACAGCTGCCTTTATTCTTGTTGGTTTGCTTTGCAATCCGCTCCGTGTAAAGTCAGCTAACTCTCTCGGTCACGGGCGTCCGGCTGTCCACAGGCTCCTCTCTGTTTGGCCTTGGCATGGAGGATGAAACAATGTCTTTGCGCTCTCCCTCCCCTCGGTGTTTGTACTTTTCTGCGGCCGTGGCGGCGGTGGCAACCGCGGGCTGAGTCTTAGCTGGCTCCTTGGGGCAGCCGTCGCTCTCCAGTGAGCCTCCTCTGGGCATCTTCTCCTCTTTGCAGACGCTGCTGCTCAAGTCCTGGGGCTCAGGGGGGCTGGTGGGGTCCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCAGGGGTGGGAGCAGTGGCACGGGGGCCTTTGGGGACTCTGAGTGGTGGTGATGGTGGTGGTGCTCCTTCTTGGGGGGTGAGGAGGCGCTGCTGCTGCGCCCCTTGGGGCTGCTCTCCTTGCTTTTCCGCCCAGGGCTCTTACAGGTCTTCAGTCCTTTCCCGCTCTTCTCACCGAGGGTGGACACCAGCAGGGGCTTCACCACTTCCTTGACCTCGATGCTGACCGTCTCCCGGGTCTTGCGCTTCTTGATGGGGAGTACGGTCTCCTGCACAGATCGGATAGAAGACTCCTTCACGGCTTTCTTTTTGGCCTCGGCGGCAGCGGCTGCCACCACACTCCCCGGCTTTCGG	A	A154030242C	MECP2	NM_001110792.2(MECP2):c.843_*125del:p.Gly281_Ter499delinsXaa	noncoding	Pathogenic
X	154030249	AAAAATATTTTTTATTTCAGTTAATCGGGAAGCTTTGTCAGAGCCCTACCCATAAGGAGAAGAGACAACAGCTGCCTTTATTCTTGTTGGTTTGCTTTGCAATCCGCTCCGTGTAAAGTCAGCTAACTCTCTCGGTCACGGGCGTCCGGCTGTCCACAGGCTCCTCTCTGTTTGGCCTTGGCATGGAGGATGAAACAATGTCTTTGCGCTCTCCCTCCCCTCGGTGTTTGTACTTTTCTGCGGCCGTGGCGGCGGTGGCAACCGCGGGCTGAGTCTTAGCTGGCTCCTTGGGGCAGCCGTCGCTCTCCAGTGAGCCTCCTCTGGGCATCTTCTCCTCTTTGCAGACGCTGCTGCTCAAGTCCTGGGGCTCAGGGGGGCTGGTGGGGTCCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGC	A	A154030251G	MECP2	NM_001110792.2(MECP2):c.1194_*117del:p.Pro399fs	noncoding	Pathogenic
X	154030327	TATTCTTGTTGGTTTGCTTTGCAATCCGCTCCGTGTAAAGTCAGCTAACTCTCTCGGTCACGGGCGTCCGGCTGTCCACAGGCTCCTCTCTGTTTGGCCTTGGCATGGAGGATGAAACAATGTCTTTGCGCTCTCCCTCCCCTCGGTGTTTGTACTTTTCTGCGGCCGTGGCGGCGGTGGCAACCGCGGGCTGAGTCTTAGCTGGCTCCTTGGGGCAGCCGTCGCTCTCCAGTGAGCCTCCTCTGGGCATCTTCTCCTCTTTGCAGACGCTGCTGCTCAAGTCCTGGGGCTCAGGGGGGCTGGTGGGGTCCTCGGAGCTCTCGGGCTCAGGTGGAGGTG	T	A154030328G	MECP2	NM_001110792.2(MECP2):c.1199_*39del:p.Pro400fs	noncoding	Pathogenic
X	154030337	GGTTTGCTTTGCAATCCGCTCCGTGTAAAGTCAGCTAACTCTCTCGGTCACGGGCGTCCGGCTGTCCACAGGCTCCTCTCTGTTTGGCCTTGGCATGGAGGATGAAACAATGTCTTTGCGCTCTCCCTCCCCTCGGTGTTTGTACTTTTCTGCGGCCGTGGCGGCGGTGGCAACCGCGGGCTGAGTCTTAGCTGGCTCCTTGGGGCAGCCGTCGCTCTCCAGTGAGCCTCCTCTGGGCATCTTCTCCTCTTTGCAGACGCTGCTGCTCAAGTCCTGGGGCTCAGGGGGGCTGGTGGGGTCCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCAGGGGTGGGAGCAGTGGCACGGGGGCCTTTGGGGACTCTGAGTGGTGGTGATGGTGGTGGTGCTCCTTCTTGGGGGGTGAGGAGGCGCTGCTGCTGCGCCCCTTGGGGCTGCTCTCC	G	G154030338T	MECP2	NM_001110792.2(MECP2):c.1077_*29del:p.Lys359_Ter499delinsXaa	noncoding	Pathogenic
X	154030337	GGTTTGCTTTGCAATCCGCTCCGTGTAAAGTCAGCTAACTCTCTCGGTCACGGGCGTCCGGCTGTCCACAGGCTCCTCTCTGTTTGGCCTTGGCATGGAGGATGAAACAATGTCTTTGCGCTCTCCCTCCCCTCGGTGTTTGTACTTTTCTGCGGCCGTGGCGGCGGTGGCAACCGCGGGCTGAGTCTTAGCTGGCTCCTTGGGGCAGCCGTCGCTCTCCAGTGAGCCTCCTCTGGGCATCTTCTCCTCTTTGCAGACGCTGCTGCTCAAGTCCTGGGGCTCAGGGGGGCTGGTGGGGTCCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCAGGGGT	G	T154030339G	MECP2	NM_001110792.2(MECP2):c.1188_*29del:p.Pro396_Ter499delinsXaa	noncoding	Pathogenic
X	154030353	CGCTCCGTGTAAAGTCAGCTAACTCTCTCGGTCACGGGCGTCCGGCTGTCCACAGGCTCCTCTCTGTTTGGCCTTGGCATGGAGGATGAAACAATGTCTTTGCGCTCTCCCTCCCCTCGGTGTTTGTACTTTTCTGCGGCCGTGGCGGCGGTGGCAACCGCGGGCTGAGTCTTAGCTGGCTCCTTGGGGCAGCCGTCGCTCTCCAGTGAGCCTCCTCTGGGCATCTTCTCCTCTTTGCAGACGCTGCTGCTCAAGTCCTGGGGCTCAGGGGGGCTGGTGGGGTCCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCAGGGGTGGGAGCAGTGGCACGGGGGCCTTTGGGGACTCTGAGTGGTGGTGATGGTGGTGGT	C	G154030359T	MECP2	NM_001110792.2(MECP2):c.1133_*13del:p.His378_Ter499delinsXaa	noncoding	Pathogenic
X	154030354	GCTCCGTGTAAAGTCAGCTAACTCT	G	C154030358G	MECP2	NM_001110792.2(MECP2):c.1486_*12del:p.Arg496_Ter499del	noncoding	Pathogenic
X	154030354	GCTCCGTGTAAAGTCAGCTAA	G	C154030358T	MECP2	NM_001110792.2(MECP2):c.1490_*12del:p.Val497fs	noncoding	Pathogenic
X	154030366	GTCAGCTAACTCTCTCGGTCACGGGCGTCCGGCTGTCCACAGGCTCCTCTCTGTTTGGCCTTGGCATGGAGGATGAAACAATGTCTTTGCGCTCTCCCTCCCCTCGGTGTTTGTACTTTTCTGCGGCCGTGGCGGCGGTGGCAACCGCGGGCTGAGTCTTAGCTGGCTCCTTGGGGCAGCCGTCGCTCTCCAGTGAGCCTCCTCTGGGCATCTTCTCCTCTTTGCAGACGCTGCTGCTCAAGTCCTGGGGCTCAGGGGGGCTGGTGGGGTCCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCAGGGGTGGGAGCAGTGGCACGGGGGCCTTTGGGGACTCTGAGTGGTGGTGATGGTGGTGGTGCTCCTTCTTGGGGGGTGAGGAGGCGCTGCTGCTGCGCCCCTTGGGGCTGCTCTCCTTGCTTTTCCGCCCAGGGCTCTTACAGGTCTTCAGTCCTTTCCCGCTCTTCTCACCGAGGGTGGACACCAGCAGGGGCTTCACCACTTCCTTGACCTCGATGCTGACCGTCTCCCGGGTCTTGCGCTTCTTGATGGGGAGTACGGTCTCCTGCACAGATCGGATAGAAGACTCCTTCACGGCTTTCTTTTTGGCCTCGGCGGCAGCGGCTGCCACCACACTCCCCGGCTTTCGGCCCCGTTTCTTGGGAATGGCCTGAGGGTCGGCCTCAGCTTTTCGCTTCCTGCCGGGGCGTTTGATCACCATGACCTGGGTGGATGTGGTGGCCCCACCCCCCTCAGCCTTGCCCCCTGGCGAAGTTTGAAAAGGCATCTTGACAAGGAGCTTCCCAGGACTTTTCTCCAGGACCCTTTTCACCTGCACACCCTCTGACGTGGCCGCCTTGGGTCTCGTGGTGCCGCTCCCTTTGGGGCGTCCCCGGCCTCTGCCAGTTCCTGGAGCTTTGGGAGATTTGGGCTTCTTAGGTGGTTTCTGCTCTCGCCGGGAGGGGCTCCCTCTCCCAGTTACCGTGAAGTCAAAATCATTAGGGTCCAGGGATGTGTCGCCTACCTTTTCGAAGTACGCAATCAACTCCACTTTAGAGCGAAAGGCTTTTCCCTGGGGA	G	T154030367C	MECP2	NM_001110792.2(MECP2):c.414_1497del:p.Pro139fs	coding	Pathogenic
X	154030369	AGCTAACTCTCTCGGTCACGGGCGTCCGGCTGTCCACAGGCTCCTCTCTGTTTGGCCTTGGCATGGAGGATGAAACAATGTCTTTGCGCTCTCCCTCCCCTCGGTGTTTGTACTTTTCTGCGGCCGTGGCGGCGGTGGCAACCGCGGGCTGAGTCTTAGCTGGCTCCTTGGGGCAGCCGTCGCTCTCCAGTGAGCCTCCTCTGGGCATCTTCTCCTCTTTGCAGACGCTGCTGCTCAAGTCCTGGGGCTCAGGGGGGCTGGTGGGGTCCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGG	A	G154030370C	MECP2	NM_001110792.2(MECP2):c.1195_1494del:p.Pro399_Ser498del	coding	Pathogenic
X	154030370	GCTAA	G	A154030373C	MECP2	NM_001110792.2(MECP2):c.1490_1493del:p.Val497fs	coding	Pathogenic
X	154030371	C	CTA	A154030374T	MECP2	NM_001110792.2(MECP2):c.1491_1492dup:p.Ser498fs	coding	Pathogenic
X	154030374	A	ACT	G154030382T	MECP2	NM_001110792.2(MECP2):c.1484_1485AG[4]:p.Val497fs	coding	Pathogenic
X	154030374	ACTCT	A	T154030378G	MECP2	NM_001110792.2(MECP2):c.1484_1485AG[1]:p.Arg496fs	coding	Pathogenic
X	154030411	CCT	C	C154030416G	MECP2	NM_001110792.2(MECP2):c.1447_1448AG[2]:p.Glu484fs	coding	Pathogenic
X	154030411	CCTCTCTGTTTGGCCTTGGCATGGAGGATGAAACAATGTCTTTGCGCTCTCCCTCCCCTCGGTGTTTGTACTTTTCTGCGGCCGTGGCGGCGGTGGCAACCGCGGGCTGAGTCTTAGCTGGCTCCTTGGGGCAGCCGTCGCTCTCCA	C	C154030412G	MECP2	NM_001110792.2(MECP2):c.1307_1452del:p.Leu436fs	coding	Pathogenic
X	154030417	TGTT	CA	T154030417C	MECP2	NM_001110792.2(MECP2):c.1444_1447delinsTG:p.Asn482fs	coding	Pathogenic
X	154030463	C	CG	T154030464G	MECP2	NM_001110792.2(MECP2):c.1400_1401insC:p.Glu467fs	coding	Pathogenic
X	154030463	CTCCCCTCGGTGTTTGTACTTTTCTGCGGCCGTGGCGGCGGT	C	T154030464G	MECP2	NM_001110792.2(MECP2):c.1360_1400del:p.Thr454fs	coding	Pathogenic
X	154030479	T	TA	C154030481A	MECP2	NM_001110792.2(MECP2):c.1384dup:p.Tyr462fs	coding	Pathogenic
X	154030481	CTTTTCTGCGGCCGTGGCGGCGGTGGCAACCGCGGGCTGAGTCTTAGCTGGCTCCTTGGGGCAGCCGTCGCTCTCCAGTGAGCCTCCTCTGGGCATCTTCTCCTCTTTGCAGACGCTGCTGCTCAAGTCCTGGGGCTCAGGGGGGCTGGTGGGGTCCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCAGGGGTGGGAGCAGTGGCACGGGGGCCTTTGGGGACTCTGAGTGGTGGTGATGGTGGTGGTGCTCCTTCTTGGGGGGTGAGGAGGCGCTGCTGCTGCGCCCCTTGGGGCTGCTCTCCTTGCTTTTCCGCCCAGGGCTCTTACAGGTCTTCAGTCCTTTCCCGCT	C	T154030482C	MECP2	NM_001110792.2(MECP2):c.1030_1382del:p.Ser344fs	coding	Pathogenic
X	154030484	TTCTGCG	T	T154030485G	MECP2	NM_001110792.2(MECP2):c.1374_1379del:p.Ala459_Glu460del	coding	Pathogenic
X	154030485	TCTGCGGCCGTGGC	T	C154030486G	MECP2	NM_001110792.2(MECP2):c.1366_1378del:p.Ala456fs	coding	Pathogenic
X	154030490	GGCCGTGGCGGCGGTGGCAACCGCGGGCTGAGTCTTAGCTGGCTCCTTGGGGCAGCCGTCGCTCTCCAGTGAGCCTCCTCTGGGCATCTTCTCCTCTTTGCAGAC	G	C154030493T	MECP2	NM_001110792.2(MECP2):c.1270_1373del:p.Val424fs	coding	Pathogenic
X	154030501	CGGTGGCAACCGCGGGCTGAGTCTTAGCTGGCTCCTTGGGGCAGCCGTCGCTCTCCAGTGAGCCTCCTCTGGGCATCTTCTCCTCTTTGCAGACGCTGCTGCTCAAGTCCTGGGGCTCAGGGGGGCTGGTGGGGTCCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCAGGGGTGGGAGCAGTGGCACGGGGGCCTTTGGGGACTCTGAGT	C	C154030507T	MECP2	NM_001110792.2(MECP2):c.1151_1362del:p.His384fs	coding	Pathogenic
X	154030507	C	CA	C154030510A	MECP2	NM_001110792.2(MECP2):c.1356dup:p.Ala453fs	coding	Pathogenic
X	154030509	A	AC	G154030512C	MECP2	NM_001110792.2(MECP2):c.1354dup:p.Val452fs	coding	Pathogenic
X	154030510	CCG	C	C154030513G	MECP2	NM_001110792.2(MECP2):c.1350_1351CG[1]:p.Ala451fs	coding	Pathogenic
X	154030518	TGA	T	A154030520T	MECP2	NM_001110792.2(MECP2):c.1344_1345del:p.Gln449fs	coding	Pathogenic
X	154030537	T	TG	C154030542G	MECP2	NM_001110792.2(MECP2):c.1326dup:p.Lys443fs	coding	Pathogenic
X	154030539	GGGCAGCCGTCGCTCTCCAGTGAGC	CGGCCGCT	G154030539C	MECP2	NM_001110792.2(MECP2):c.1301_1325delinsAGCGGCCG:p.Gly434fs	coding	Pathogenic
X	154030545	CCGTCGCTCTCCAGTGAGCCTCCTCTGGGCATCTTCTCCTCTTTGCAGACGCTGCTGCTCAAGTCCTGGGGCTCAGGGGGGCTGGTGGGGTCCTCGGAGCTCTCGGGCTCAGGTGGAGGTG	TGCAAAGAGGAGAAGATGCCCAGAGGAGGCTCACT	C154030545T	MECP2	NM_001110792.2(MECP2):c.1199_1319delinsAGTGAGCCTCCTCTGGGCATCTTCTCCTCTTTGCA:p.Pro400_Gly440delinsGlnTer	coding	Pathogenic
X	154030546	CGTCGCTCTCCAGTG	C	G154030547A	MECP2	NM_001110792.2(MECP2):c.1304_1317del:p.Ser435fs	coding	Pathogenic
X	154030549	C	CTAGTGACG	G154030550T	MECP2	NM_001110792.2(MECP2):c.1314_1315insCGTCACTA:p.Asp439delinsArgHisTer	coding	Pathogenic
X	154030552	TCTCCAGTGAGCCTCCTCTGGGCATCTTCTCCTCTTTGCAGACGCTGCTGCTCAAGTCCTGGGGCTCAGGGGGGCTGGTGGGGTCCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCAGGGGTGGGAGCAGTGGCACGGGGGCCTTTGGGGACTCTGAGTGGTGGTGATGGTGGTGGTGCTCCTTCTTGGGGGGTGAGGAGGCGCTGCTGCTGCGCCCCTTGGGGCTGCTCTCCTTGCTTTTCCGCCCAGGGCTCTTACAGGTCTTCAGTCCTTTCCCGCTCTTCTCACCGAGGGTGGACACCAGCAGGGGCTTCACCACTTCCTTGACCTCGATGCTGACCGTCTCCCGGGTCTTGCGCTTCTTGATGGGGAGTACGGTCTCCTGCACAGATCGGATAGAAGACTCCTTCACGGCTTTCTTTTTGGCCTCGGCGGCAGCGGCTGCCACCACACTCCCCGGCTTTCGGCCCCGTTTCTTGGGAATGGCCTGAGGGTCGGCCTCAGCTTTTCGCTTCCTGCCGGGGCGTTTGATCACCATGACCTGGGTGGATGTGGTGGCCCCACCCCCCTCAG	T	T154030554C	MECP2	NM_001110792.2(MECP2):c.737_1311del:p.Ala246fs	coding	Pathogenic
X	154030558	GTGAGCCTCCTCTGGGCATCTTCTCCTCTTTGCAGACGCTGCTGCTCAAGTCCTGGGGCTCAGGGGGGCTGGTGGGGTCCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCAGGGGTGGGAGCAGTGGCACGGGGGCCTTTGGGGACTCTGAGTGGTGGTGATGGTGGTGGTGCTCCTTCTTGGGGGGTGAGGAGGCGCTGCTGCTGCGCCCCTTGGGGCTGCTCTCCTTGCTTTTCCGCCCAGGGCTCTTACAGGTCTTCAGTCCTTTCCCGCTCTTCTCACCGAGGGTGGACACCAGCAGGGGCTTCACCACTTCCTTGACCTCGATGCTGACCGTCTCCCGGGTCTTGCGCTTCTTGATGGGGAGTACGGTCTCCTGCACAGATCGGATAGAAGACTCCTTCACGGCTTTCTTTTTGGCCTCGGCGGCAGCGGCTGCCACCACACTCCCCGGCTTTCGGCCCCGTTTCTTGGGAATGGCCTGAGGGTCGGCCTCAGCTTTTCGCTTCCTGCCGGGGCGTTTGATCACCATGACCTGGGTGGATGTGGTGGCCCCA	G	T154030559C	MECP2	NM_001110792.2(MECP2):c.747_1305del:p.Gly250fs	coding	Pathogenic
X	154030561	AGCCTCCTCTGGGCATCTTCTCCTCTTTGCAGACGCTGCTGCTCAAGTCCTGGGGCTCAGGGGGGCTGGTGG	A	C154030563G	MECP2	NM_001110792.2(MECP2):c.1232_1302del:p.Pro411fs	coding	Pathogenic
X	154030561	AGCCTCCTCTGGGCATCTTCTCCTCTTTGCAGACGCTGCTGCTCAAGTCCTGGGGCTCAGGGGGGCTGGTGGGGTCCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGG	A	C154030563G	MECP2	NM_001110792.2(MECP2):c.1197_1302del:p.Pro400fs	coding	Pathogenic
X	154030561	AGCCTCCTCTGGGCATCTTCTCCTCTTTGCAGACGCTGCTGCTCAAGTCCTGGGGCTCAGGGGGGCTGGTGGGGTCCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCAGGGGTGGGAGCAGTGGCACGGGGGCCTTTGGGGACTCTGAGTGGTGGTGATGGTGGTGGTGCTCCTTCTTGGGGGGTGAGGAGGCGCTGCTGCTGCGCCCCTTGGGGCTGCTCTCCTTGCTTTTCCGCCCAGGGCTCTTACAGGTCTTCAGTCCTTTCCCGCTCTTCTCACCGAGGGTGGACACCAGCAGGGGCT	C	A154030561C	MECP2	NM_001110792.2(MECP2):c.998_1303delinsG:p.Lys333fs	coding	Pathogenic
X	154030562	GCCTCCTCTGGGCATCTTCTCCTCTTTGCAGACGCTGCTGCTCA	G	C154030563A	MECP2	NM_001110792.2(MECP2):c.1259_1301del:p.Leu420fs	coding	Pathogenic
X	154030567	CTCTGGGCATCTTCTCCTCTTTGCAGA	C	T154030568C	MECP2	NM_001110792.2(MECP2):c.1271_1296del:p.Val424fs	coding	Pathogenic
X	154030584	TCTTTGCAGACGCTGCTGCTCAAGTCCTGGGGCTCAGGGGGGCTGGTGGGGTCCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGG	T	T154030586A	MECP2	NM_001110792.2(MECP2):c.1195_1279del:p.Pro399fs	coding	Pathogenic
X	154030591	AGACGCTGCTGCTCAAGTCCTGGGGCTCAGGGGGGCTGGTGGGGTCCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCAGGGGTGGGAGCAGTGGCACGGGGGCCTTTGGGGACTCTGAGTGGTGGTGATGGTGGTGGTGCTCCTTCTTGGGGGGTGAGGAGGCGCTGCTGCTGCGCCCCTTGGGGCTGCTCTCCTTGCTTTTCCGCCCAGGGCTCTTACAGGTCTTCAGTCCTTTCCCGCTCTTCTCACCGAGGGTGGACACCAGCAGGGGCTTCACCACTTCCTTGACCTCGATGCTGACCGTCTCCCGGGTCTTGCGCTTCTTGATGGGGAGTACGGTCTCCTGCACAGATCGGATAGAAGACTCCTTCACGGCTTTCTTTTTG	A	A154030593C	MECP2	NM_001110792.2(MECP2):c.885_1272del:p.Lys296fs	coding	Pathogenic
X	154030594	CG	AA	C154030594A	MECP2	NM_001110792.2(MECP2):c.1269_1270delinsTT:p.Val424Phe	coding	Benign
X	154030597	TGCTGCTCAAGTCCTGGG	T	G154030601C	MECP2	NM_001110792.2(MECP2):c.1250_1266del:p.Pro417fs	coding	Pathogenic
X	154030600	TGCTCAAGTCCTGGGGCTCAGGGGGGCTGGTGGGGTCCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCAGGGGTGGGAGCAGTG	T	T154030603A	MECP2	NM_001110792.2(MECP2):c.1178_1263del:p.Pro393fs	coding	Pathogenic
X	154030602	CTCAAGTCCTGGGGCTCAGGGGGGCTGGTGGGGTCCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCAGGGGTGGGAGCAGTGGCACGGGGGCCTTTGGGGACTCTGAGTGGTGGTGATG	C	T154030603G	MECP2	NM_001110792.2(MECP2):c.1141_1261del:p.His381fs	coding	Pathogenic
X	154030605	AAGTCCTGGGGCTCAGGGGGGCTGGTGGGGTCCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCAGGGGTGGGAGCAGTGGCACGGGGGCCTTTGGGGACTCTGAGTGGTGGTGATGGTGGTGGTGCTCCTTCTTGGGGGGTGAGGAGGCGCTGCTGCTGCGCCCCTTGGGGCTGCTCTCCTTGCTTTTCCGCCCAGGGCTCTTACAGGTCTTCAGTCCTTTCCCGCTCTTCTCACCGAGGGTGGACACCAGCAGGGGCTTCACCACTTCCTTGACCTCGATGCTGACCGTCTCCCGGGTCTTGCGCTTCTTGATGGGGAGTACGGTCTCCTGCACAGATCGGATAGAAGACTCC	T	A154030605T	MECP2	NM_001110792.2(MECP2):c.903_1259delinsA:p.Ser303fs	coding	Pathogenic
X	154030608	TCCTGGGGCTCAGGGGGGCTGGTGGGGTCCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCAGGGGTGGGAGCAGTGGCACGGGGGCCTTTGGGGACTCTGAGTGGTGGTGATGGTGGTGGTGCTCCTTCTTGGGGGGTGAGGAGGCGCTGCTGCTGCGCCC	T	C154030610T	MECP2	NM_001110792.2(MECP2):c.1093_1255del:p.Gly365fs	coding	Pathogenic
X	154030617	TCAGGGGGGCTGGTGGGGTCCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGG	T	G154030624T	MECP2	NM_001110792.2(MECP2):c.1195_1246del:p.Pro399fs	coding	Pathogenic
X	154030618	CA	C	A154030619G	MECP2	NM_001110792.2(MECP2):c.1245del:p.Glu416fs	coding	Pathogenic
X	154030619	A	AG	C154030626G	MECP2	NM_001110792.2(MECP2):c.1244dup:p.Pro415_Glu416insTer	coding	Pathogenic
X	154030619	AG	A	G154030625C	MECP2	NM_001110792.2(MECP2):c.1244del:p.Pro415fs	coding	Pathogenic
X	154030620	GGGGGGCTGGTGGGGTCCTCGGAGCTCTCGGGCTCAGGT	G	G154030623A	MECP2	NM_001110792.2(MECP2):c.1206_1243del:p.Pro402_Pro403insTer	coding	Pathogenic
X	154030620	GGGGGGCTGGTGGGGTCCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCAGGGGTGGGAGCAGTGGCACGGGGGCCTTTGGGGACTCTGAGTGGTGGTGATGGTGGTGGTGCTCCTTCTTGGGGGGTGAGGAGGCGCTGCTGCTGCGCCCCTTGGGGCTGCTCTCCTTGCTTTTCCGCCCAGGGCTCTTACAGGTCTTCAGTCCTTTCCCGCTCTTCTCACCGAGGGTGGACACCAGCAGGGGCTTCACCACTTCCTTGACCTCGATGCTGACCGTCTCCCGGGTCTTGCGCTTCTTGATGGGGAGTACGGTCTCCTGCACAGATCGGATAGAAGACTCCTTCACGGCTTTCTTTTTGGCCTCGGCGGCAGCGGCTGCCACCACACTCCCCGGCTTTCGGCCCCGTTTCTTGGGAATGGCCTGAGGGTCGGCCTCAGCTTTTCGCTTCCTGCCGGGGCGTTTGATCACCATGACCTGGGTGGATGTGGTGGCCCCACCCCCCTCAGCCTTGCCCCCTGGCGAAGTTTGAAAAGGCATCTTGACAAGGAGCTTCCCAGGACTTTTCTCCAGGACCCTTTTCACCTGCACACCCTCTGACGTGGCCGCCTTGGGTCTCGTGGTGCCGCTCCCTTTGGGGCGTCCCCGGCCTCTGCCAGTTCCTGGAGCTTTGGGAGATTTGGGCTTCTTAGGTGGTTTCTGCTCTCGCCGGGAGGGGCTCCCTCTCCCAGTTACCGTGAAGTCAAAATCATTAGGGTCCAGGGATGTGTCGCCTACCTTTTCGAAGTACGCAATCAACTCCACTTTAGAGCGAAAGGCTTTTCCCTGGGGACTGTGGGGACAAACAGAAAGACACAAGGAACAATTAGAGGCTCTCCATAGCAATGTCAGAGATAGGGCAGAGCGGATGGTGGTGACAACGCTCTGACAAACGTTACTATTGAACGAGAGTCACACTGCCTGGCTGCCCCTGAGGACCTGTCACCAAAGCCACTCACTCGTCTGCCTGCCGCTGACCCCCCCAGGCCTCTCCAAAGTTCAGCAACCAAAGAGTCAGGCCTGGTACAGAAGGGTTGTCAGGCTGAGGCCCATTCTGCTGGTTGGTGCCTGGGCCTGAGTCACCATCTAGAACATTCCCAAGTTTGAACTCAGGTACGGTGCTCAGTCTCTCCAGGAATCAGTTTCAACAAGATAATCCTTTGCTCACCCTTCTCATGGAATTAAATGAGGCTGTCTGCAAATGTCATTTGAAAACTGCTAACCTTTTTGGGATCATTTAAAAGGCAGAACTGAAACATGCTTCTTCACCCCTCTGAACCCCTAGCTCTGCAAGTTCCTCTGCTTCCGCAGCTATTCCATCCCCAGATAAAGACTTGAGGTGTGGAGAGGATAGAGGGCCTGCTACCTTGAGAACTTCCCACTCAGGGCAGCGACCTCTGTACACGGTCATTTCAAGCACACCTGGTCTCAGTGTTCATTGTTTATGTTCCCCCCGACCCCACCCTGGGCACATACATTTTCCTGCTCCATGAGGGATCCTTGTCCCTGCCCTCCCTGCCCTGTAGAGATAGGAGTTGCTCTTACTTACTTGATCAAATACACATCATACTTCCCAGCAGAGCGGCCAGATTTCCTTTGCTTAAGCTTCCGTGTCCAGCCTTCAGGCAGGGTGGGGTCATCATACATGGGTCCCCGGTCACGGATGATGGAGCGCCGCTGTTTGGGGGAGGCAGAAGCTTCCGGCACAGCCGGGGCGGAGCCTGACCCTTCTGATGTCTCTGCTTTGCCTGCCTCTGCGGGCTCAGCAGAGTGGTGGGCTGATGGCTGCACGGGCTCATGCTTGCCCTCTTTCTCTTCTTTCTTATCTTTCTTCACCTTTTTAAACTTGAGGGGTTTGTCCTTGAGGCCCTGGAGGTCCTGGTCTTCTGACTTTTCTTCCCTGAAGTGTTAAACAAGTATGTAAGTATCACAGAGAACATGCCAGTCTGCAGAACAAGTGAGCAGAGGCAGGCTTGGACCCCCACCACATGCAA	G	G154030623C	MECP2	NM_001110792.2(MECP2):c.63-94_1243del	coding	Pathogenic
X	154030620	GGGGGGCTGGTGGGGTCCTCGGAGCTCTCGGGCTCAGGTGGAGGT	G	T154030627A	MECP2	NM_001110792.2(MECP2):c.1200_1243del:p.Pro400_Pro401insTer	coding	Pathogenic
X	154030621	GGGGGCTGGTGGGGTCCTCGGAGCTCTCGGGCTCAGGTGGAGGT	G	C154030626G	MECP2	NM_001110792.2(MECP2):c.1200_1242del:p.Pro401fs	coding	Pathogenic
X	154030621	GGGGGCTGGTGGGGTCCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCAGGGGTGGGAGCAGTGGCACGGGGGCCTTTGGGGACTCTGAGTGGTGGTGATGGTGGTGGTGCTCCTTCTTGGGGGGTGAGGAGGCGCTGCTGCTGCGCCCCTTGGGGCTGC	G	G154030622T	MECP2	NM_001110792.2(MECP2):c.1082_1242del:p.Ser361fs	coding	Pathogenic
X	154030622	GGGGCTGGTGGGGTCCTCGGAGCTCTC	G	G154030628C	MECP2	NM_001110792.2(MECP2):c.1216_1241del:p.Glu406fs	coding	Pathogenic
X	154030623	GGGCTGGTGGGGTCCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGG	T	G154030623T	MECP2	NM_001110792.2(MECP2):c.1197_1241delinsA:p.Pro400_Pro401insTer	coding	Pathogenic
X	154030624	GGCTGGTGGGGTCCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCAGGGGTGGGAGCAGTGGCACGGGGGCCTTTGGGGACTCTGAGTGGTGGTGATGGTGGTGGT	G	G154030628C	MECP2	NM_001110792.2(MECP2):c.1133_1239del:p.His378fs	coding	Pathogenic
X	154030625	GCTGGTGGGGTCCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCAGGGGTGGGAGCAGTGGCACGGGGGCCTTTGGGGACTCTGAGTGGTGGTGATGGTGGTGGTGCTCCTTCTTGGGGGGTGAGGAGGCGCTGCTGCTGCGCCCCTTGGGGCTGCTCTCCTTGCTTTTCCGCCCAGGGCTCTTACAGGT	G	G154030628T	MECP2	NM_001110792.2(MECP2):c.1048_1238del:p.Thr350fs	coding	Pathogenic
X	154030625	GCTGGTGGGGTCCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCAGGGGTGGGAGCAGTGGCACGGGGGCCTTTGGGGA	G	G154030628C	MECP2	NM_001110792.2(MECP2):c.1159_1238del:p.Ser387fs	coding	Pathogenic
X	154030625	GCTGGTGGGGTCCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCAGGGGTGGGAGCAGTGGCACGGGGGC	G	G154030628T	MECP2	NM_001110792.2(MECP2):c.1168_1238del:p.Ala390fs	coding	Pathogenic
X	154030625	G	GC	T154030627C	MECP2	NM_001110792.2(MECP2):c.1238dup:p.Ser413fs	coding	Pathogenic
X	154030626	CTGGTGGGGTCCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCAGGGGTGGGAGCAGTGGCACGGGGGCCTTTGGGGACTCTGAG	C	G154030633T	MECP2	NM_001110792.2(MECP2):c.1152_1237del:p.His384fs	coding	Pathogenic
X	154030626	CTGGTGGGGTCCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCAGGGGTGGGAGCAGTGGCACGGGGGCCTTTGGGGACTCTGAGTGGTGGTGATGGTGG	C	G154030632C	MECP2	NM_001110792.2(MECP2):c.1137_1237del:p.His379fs	coding	Pathogenic
X	154030626	CTGGTGGGGTCCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCAGGGGTGGGAGCAGTGGCACGGGGGCCTTTGGGGACTCTGAGTGGTGGTGATGGTGGTGG	C	G154030629C	MECP2	NM_001110792.2(MECP2):c.1134_1237del:p.His378fs	coding	Pathogenic
X	154030626	CTGGTGGGGTCCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCAGGGGTGGGAGCAGTGGCACGGGGGCCTTTGGGGACTCTGAGTGGTGGTGATGGTGGTGGTG	C	T154030627C	MECP2	NM_001110792.2(MECP2):c.1132_1237del:p.His378fs	coding	Pathogenic
X	154030626	CTGGTGGGGTCCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGG	C	T154030627C	MECP2	NM_001110792.2(MECP2):c.1195_1237del:p.Pro399fs	coding	Pathogenic
X	154030627	TGGTGGGGTCCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCAGGGGTGGGAGCAGTGGCACGGGGGCCTTTGGGGACTCTGAGTGGTGGTGATGGTGGTGGTGCTCCTTCTTGGGGGGTGAGGAGGCGCTGCTGCTGCGCCCCTTGG	T	T154030630C	MECP2	NM_001110792.2(MECP2):c.1088_1236del:p.Pro363fs	coding	Pathogenic
X	154030627	TGGTGGGGTCCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCA	T	T154030630G	MECP2	NM_001110792.2(MECP2):c.1193_1236del:p.Leu398fs	coding	Pathogenic
X	154030627	TGGTGGGGTCCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGC	T	G154030628A	MECP2	NM_001110792.2(MECP2):c.1194_1236del:p.Pro399fs	coding	Pathogenic
X	154030627	TGGTGGGGTCCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGG	T	G154030629C	MECP2	NM_001110792.2(MECP2):c.1196_1236del:p.Pro399fs	coding	Pathogenic
X	154030627	TGGTGGGGTCCTCGGAGCTCTCGGGCTCAGGTGGA	T	T154030635G	MECP2	NM_001110792.2(MECP2):c.1203_1236del:p.Pro402fs	coding	Pathogenic
X	154030627	T	TG	T154030630G	MECP2	NM_001110792.2(MECP2):c.1236dup:p.Ser413fs	coding	Pathogenic
X	154030628	GGTGGGGTCCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCAGGGGTGGGAGCAGTGGCACGGGGGCCTTTGGGGACTCTGAGTGGTGGTGATGGTGGTGGTGCTCCTTCTTGGGGGGTGAGGAGGCGCTGCTGCTGCGCCCCTTGGGGCT	G	T154030630C	MECP2	NM_001110792.2(MECP2):c.1084_1235del:p.Ser362fs	coding	Pathogenic
X	154030628	GGTGGGGTCCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCA	G	T154030630G	MECP2	NM_001110792.2(MECP2):c.1193_1235del:p.Leu398fs	coding	Pathogenic
X	154030629	GTGGGGTCCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGC	G	T154030630A	MECP2	NM_001110792.2(MECP2):c.1194_1234del:p.Pro399fs	coding	Pathogenic
X	154030630	TGGGGTCCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCAGGGGTGGGAGCAGTGGCACGGGGGCCTTTGGGGACTCTGAGTGGTGGTGATGGTGGTGGTGCTCCTTCTTGGGGGGTGAGGAGGCGCTGCTGCTGCGCCCCTTGGGGCTGCTCTCCTTGCTTTTCCGCCCAGGGCTCTTACAGGTCTTCAGTCCTTTCCCGCTCTTCTCACCGA	T	G154030634T	MECP2	NM_001110792.2(MECP2):c.1019_1233del:p.Leu340fs	coding	Pathogenic
X	154030630	TGGGGTCCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCAGGG	T	G154030632T	MECP2	NM_001110792.2(MECP2):c.1190_1233del:p.Pro397fs	coding	Pathogenic
X	154030630	TGGGGTCCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCA	T	C154030636G	MECP2	NM_001110792.2(MECP2):c.1193_1233del:p.Leu398fs	coding	Pathogenic
X	154030630	T	TG	T154030635G	MECP2	NM_001110792.2(MECP2):c.1233dup:p.Thr412fs	coding	Pathogenic
X	154030632	GGGTCCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCAGGGGT	G	T154030635G	MECP2	NM_001110792.2(MECP2):c.1188_1231del:p.Pro397fs	coding	Pathogenic
X	154030633	G	GA	G154030634A	MECP2	NM_001110792.2(MECP2):c.1230_1231insT:p.Pro411fs	coding	Pathogenic
X	154030633	GGTCCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCAGGGGTGGGAGCA	G	C154030636G	MECP2	NM_001110792.2(MECP2):c.1181_1230del:p.Leu394fs	coding	Pathogenic
X	154030633	GGTCCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCAGGGGTGGGAGCAGTGGCACGGGGGCCTTTGGGGACTCTGAGTGGTGGTGATGGTGGTGGTGCTCCTTCTTGGGGGGTGAGGAGGCGCTGCTGCTGCGCCCCTTGGGGCTGCTCTCCTT	AC	G154030633A	MECP2	NM_001110792.2(MECP2):c.1075_1231delinsGT:p.Lys359fs	coding	Pathogenic
X	154030633	GGTCCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCAGGGGTGGGAGCAGTGGCACGGGGGCCTTTGGGGACTCTGAGTGGTGGTGATGGTGGTGGTGCTCCTTCTTGGGGGGTGAGGAGGCGCTGCTGCTGCGCCCCTTGGGGCTGCTCTCCTTGCTTTTCCG	AC	G154030633A	MECP2	NM_001110792.2(MECP2):c.1066_1231delinsGT:p.Arg356fs	coding	Pathogenic
X	154030633	GGTCCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCAGGGGTGGGAGCAGTGGCACGGGGGCCTTTGGGGACTCTGAGTGGTGGTGATGGTGGTGGTGCTCCTTCTTGGGGGGTGAGGAGGCGCTGCTGCTGCGCCCCTTGGGGCTGCTCTCCTTGCTTTTCCGCCCAGGGCTCTTACAGGTCTTCA	G	C154030639T	MECP2	NM_001110792.2(MECP2):c.1043_1230del:p.Leu348fs	coding	Pathogenic
X	154030633	GGTCCTCGGAGCTCTCGGGCTCAGGTGGAGGT	G	T154030635G	MECP2	NM_001110792.2(MECP2):c.1200_1230del:p.Pro403fs	coding	Pathogenic
X	154030634	GTCCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCAGGGGTGGGAGCAGTGGCACGGGGGCCTT	G	C154030636G	MECP2	NM_001110792.2(MECP2):c.1165_1229del:p.Lys389fs	coding	Pathogenic
X	154030634	GTCCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCAGGGGTGGGAGCAGTGGCACGGGGGCCTTTGGGGACTCTGAGTGGTGGTGATGGTGGTGGTGCTCCTTCTTGGGGGGTGAGGAGGCGCTGCTGCTGCGCCCCTTGGGGCTGCTCTCCTTGCTTTTCCGCCCAGGGCTCTTACAGGT	G	T154030635C	MECP2	NM_001110792.2(MECP2):c.1048_1229del:p.Thr350fs	coding	Pathogenic
X	154030635	TCCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCAGGGGTGG	T	C154030636G	MECP2	NM_001110792.2(MECP2):c.1186_1228del:p.Pro396fs	coding	Pathogenic
X	154030636	CCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCA	C	C154030637G	MECP2	NM_001110792.2(MECP2):c.1193_1227del:p.Leu398fs	coding	Pathogenic
X	154030636	CCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCAGGGGTG	C	C154030637G	MECP2	NM_001110792.2(MECP2):c.1187_1227del:p.Pro396fs	coding	Pathogenic
X	154030636	CCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCAGGGGTGGGAGCAGTGGCACGGGGGCCTTTGGGGACT	C	C154030639G	MECP2	NM_001110792.2(MECP2):c.1157_1227del:p.Glu386fs	coding	Pathogenic
X	154030637	C	CT	C154030639T	MECP2	NM_001110792.2(MECP2):c.1226dup:p.Asp410fs	coding	Pathogenic
X	154030637	CTCGGAGCTCTCGGGCTCAGGTGGAGG	C	C154030639G	MECP2	NM_001110792.2(MECP2):c.1201_1226del:p.Pro401fs	coding	Pathogenic
X	154030637	CTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCAGGGG	C	C154030639G	MECP2	NM_001110792.2(MECP2):c.1189_1226del:p.Pro397fs	coding	Pathogenic
X	154030638	TCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCAGGG	CATCCCAGGACGCAGGTGGATCCGAGTCTGCTGCATAGACGGCCATTAGGTCCCAGGATGGAGCTGGATTCGAGCCTGCTGTGCTCCAAATGGTTACGGTGGTGAATTCTGTT	T154030638C	MECP2	NM_001110792.2(MECP2):c.1190_1226delinsAACAGAATTCACCACCGTAACCATTTGGAGCACAGCAGGCTCGAATCCAGCTCCATCCTGGGACCTAATGGCCGTCTATGCAGCAGACTCGGATCCACCTGCGTCCTGGGATG:p.Pro397_Glu409delinsGlnGlnAsnSerProProTer	coding	Pathogenic
X	154030638	TCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCAGGGGTGGGAGCAGTGGCACGGGGGCCTTTGGGGACTCTGAGTGGTGGTGATGGTGGTGGTGCTCCTTCTTGGGGGGTGAGGAGGCGCTGCTGCTGCGCCCCTTGGGGCTGCTCTCCTTGCTTTTCCGCCCAGGGCTCTTACAGGTCTTCAGTCCTTTCCCGCTCTTCTCACCGAGGGTGGACACCAGCAGGGGCTTCACCACTTCCTTGACCTCGATGCTGACCGTCTCCCGGGTCTTGCGCTTCTTGATGGGGAGTACGGTCTCCTGCACAGATCGGATAGAAGACTCCTTCACGGCTTTCTTTTTGGCCTCGGCGGCAGCGGCTGCCACCACACTCCCCGGCTTTCGGCCCCGTTTCTTGGGAATGGCCTGAGGGTCGGCCTCAGCTTTTCGCTTCCTGCCGGGGCGTTTGATCACCATGACCTGGGTGGATGTGGTGGCCCCACCCCCCTCAGCCTTGCCCCCTGGCGAAGTTTGAAAAGGCATCTTGACAAGGAGCTTCCCAGGACTTTTCTCCAGGACCCTTTTCACCTGCACACCCTCTGACGTGGCCGCCTTGGGTCTCGTGGTGCCGCTCCCTTTGGGGCGTCCCCGGCCTCTGCCAGTTCCTGGAGCTTTGGGAGATTTGGGCTTCTTAGGTGGTTTCTGCTCTCGCCGGGAGGGGCTCCCTCTCCCAGTTACCGTGAAGTCAAAATCATTAGGGTCCAGGGATGTGTCGCCTACCTTTTCGAAGTACGCAATCAACTCCACTTTAGAGCGAAAGGCTTTTCCCTG	T	C154030639G	MECP2	NM_001110792.2(MECP2):c.418_1225del:p.Gln140fs	coding	Pathogenic
X	154030638	TCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCAGGGGTGGGAGCAGTGGCACGGGGGCCTTTGGGGACTCTGAGTGGTGGTGATGGTGGTGGTGCTCCTTCTTGGGGGGTGAGGAGGCGCTGCTGCTGCGCCCCTTGGGGCTGCTCTCCTTGCTTTTCCGCCCAGGGCTCTTACAGGTCTTCAGTCCTTTCCCGCTCTTCTCACCGAGGGTGGACACCAGCAGGGGCTTCACCACTTCCTTGACCTCGATGCTGACCGTCTCCCGGGTCTTGCGCTTCTTGATGGGGAGTACGGTCTCCTGCACAGATCGGATAGAAGACTCCTTCACGGCTTTCTTTTTGGCCTCGGCGGCAGCGGCTGCCACCACACTCCCCGGCTTTCGGCCCCGTTTCTTGGGAATGGCCTGAGGGTCGGCCTCAGCTTTTCGCTTCCTGCCGGGGCGTTTGATCACCATGACCTGGGTGGATGTGGTGGCCCCACCCCCCTCAGCCTTGCCCCCTGGCGAAGTTTGAAAAGGCATCTTGACAAGGAGCTTCCCAGGACTTTTCTCCAGGACCCTTTTCACCTGCACACCCTCTGACGTGGCCGCCTTGGGTCTCGTGGTGCCGCTCCCTTTGGGGCGTCCCCGGCCTCTGCCAGTTCCTGGAGCTTTGGGAGATTTGGGCTTCTTAGGTGGTTTCTGCTCTCGCCGGGAGGGGCTCC	T	G154030640T	MECP2	NM_001110792.2(MECP2):c.524_1225del:p.Gly175_Ser408del	coding	Pathogenic
X	154030639	CGGAGCTCTCGGGCTCAGGTGGAGGTG	C	A154030642G	MECP2	NM_001110792.2(MECP2):c.1199_1224del:p.Pro400fs	coding	Pathogenic
X	154030639	CGGAGCTCTCGGGCTCAGGTGGAGGTGGGG	C	G154030641C	MECP2	NM_001110792.2(MECP2):c.1196_1224del:p.Pro399fs	coding	Pathogenic
X	154030639	CGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCA	C	A154030642G	MECP2	NM_001110792.2(MECP2):c.1193_1224del:p.Leu398fs	coding	Pathogenic
X	154030639	CGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCAG	C	A154030642G	MECP2	NM_001110792.2(MECP2):c.1192_1224del:p.Leu398_Ser408del	coding	Pathogenic
X	154030639	CGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCAGGGGTG	C	T154030645A	MECP2	NM_001110792.2(MECP2):c.1187_1224del:p.Pro396fs	coding	Pathogenic
X	154030639	CGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCAGGGGTGGGAGCAGTGGCACGGGGGCCTTTGGGGACTCTGAGTGGTGGTGATGGTGGTGGTGCTCCTTCTTGGGGGGTGAGGAGGCGCTGCTGCTGCGCCCCTTGGGGCTGCTCTCCTTGCTTTTCCGCCCAGGGCTCTTACAGGTCTTCAGTCCTTTCCCGCTCTTCTCACCGAGGGTGGACACCAGCAGGGGCTTCACCACTTCCTTGACCTCGATGCTGACCGTCTCCCGGGTCTTGCGCTTCTTGATGGGGAGTACGGTCTCCTGCACAGATCGGATAGAAGACTCCTTCACGGCTTTCTTTT	C	G154030640T	MECP2	NM_001110792.2(MECP2):c.887_1224del:p.Lys296fs	coding	Pathogenic
X	154030640	GGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCA	G	A154030642G	MECP2	NM_001110792.2(MECP2):c.1193_1223del:p.Leu398fs	coding	Pathogenic
X	154030641	GAGCTCTCGGGCTCAGGTGGAGGTGGGGGC	G	C154030644G	MECP2	NM_001110792.2(MECP2):c.1194_1222del:p.Pro399fs	coding	Pathogenic
X	154030642	AGCTCTCGGGCTCAGGTGGAGGTGGGG	A	T154030645A	MECP2	NM_001110792.2(MECP2):c.1196_1221del:p.Pro399fs	coding	Pathogenic
X	154030642	AGCTCTCGGGCTCAGGTGGAGGTGGGGGCAGGG	A	C154030644T	MECP2	NM_001110792.2(MECP2):c.1190_1221del:p.Pro397fs	coding	Pathogenic
X	154030642	AGCTCTCGGGCTCAGGTGGAGGTGGGGGCAGGGGTGGGAGCAGTGGCACGGGGGCCTTTGGGGACTCTGAGTGGTGGTGATGGTGGTGGTGCTCCTTCTTGG	GCAGGGGTGGGAGCAGTGGCACGGGGGCCTTTGGGGACTCTGAGTGGTGGTGATGGTGGTGGTGCTCCTTCTT	A154030642G	MECP2	NM_001110792.2(MECP2):c.1121_1222delinsAAGAAGGAGCACCACCACCATCACCACCACTCAGAGTCCCCAAAGGCCCCCGTGCCACTGCTCCCACCCCTGC:p.Pro374fs	coding	Pathogenic
X	154030642	AGCTCTCGGGCTCAGGTGGAGGTGGGGGC	TGG	A154030642T	MECP2	NM_001110792.2(MECP2):c.1194_1222delinsCCA:p.Pro399fs	coding	Pathogenic
X	154030643	GCTCTCGGGCTCAGGTGGAGGTGGGGGCAGGGGTGGGAGCAGTGGCACGGGGGCCTTTGGGGACTCTGAGTGGTGGTGATGGTGGTGGTGCTCCTTCTTGGGGGGTGAGGAGGCGCTGCTGCTGCGCCCCTTGGGGCTGCTCTCCTTGCTTTTCCGCCCAGGGCTCTTACAGGTCTTCAGTCCTTTCCCGCTCTTCTCACCGAGGGTGGACACCAGCAGGGGCTTCACCACTTCCTTGACCTCGATGCTGACCGTCTCCCGGGTCTTGCGCTTCTTGATGGGGAGTACGGTCTCCTGCACAGATCGGATAGAAGACTCCTTCACGGCTTTCTTTTTGGCCTCGGCGGCAGCGGCTGCCACCACA	G	T154030647C	MECP2	NM_001110792.2(MECP2):c.858_1220del:p.Val287_Ser407del	coding	Pathogenic
X	154030644	CTCTCGGGCTCAGGTGGAGGTGGGGGCAGG	C	T154030645G	MECP2	NM_001110792.2(MECP2):c.1191_1219del:p.Pro399fs	coding	Pathogenic
X	154030644	CTCTCGGGCTCAGGTGGAGGT	TGCTCAAGTCCTGGGGCTCAG	C154030644T	MECP2	NM_001110792.2(MECP2):c.1200_1220delinsCTGAGCCCCAGGACTTGAGCA:p.Pro401_Ser407delinsTer	coding	Pathogenic
X	154030647	T	TA	C154030648A	MECP2	NM_001110792.2(MECP2):c.1216_1217insT:p.Glu406fs	coding	Pathogenic
X	154030648	CGGGCTCAGGTGGAGGTG	C	C154030652G	MECP2	NM_001110792.2(MECP2):c.1199_1215del:p.Pro400fs	coding	Pathogenic
X	154030648	CGGGCTCAGGTGGAGGTGGGGGCAGGGGTGGGAGCAGTGGCACGGGGGCCTTT	C	C154030652G	MECP2	NM_001110792.2(MECP2):c.1164_1215del:p.Lys389fs	coding	Pathogenic
X	154030648	CGGGCTCAGGTGGAGGTGGGGGCAGGGGTGGGAGCAGTGGCACGGGGGCCTTTG	C	C154030652A	MECP2	NM_001110792.2(MECP2):c.1163_1215del:p.Pro388fs	coding	Pathogenic
X	154030652	CTCAGGTGGAGGTGGGGGCAGGGGTGGGAGCAGTGGCACGGGGGCCTTTGGGGACTCTGAGTGGTGGTGATGGTGGTGGTGCTCCTTCTTGGGGGGTGAGGAGGCGCTGCTGCTGCGCCCCTTGGGGCTGCTCTCCTTGCTTTTCCGCCCAGGGCTCTTACAGGTCTTCAGTCCTTTCCCGCTCTTCTCACCGAGGGTGGACACCAGCAGGGGCTTCACCACTTCCTTGACCTCGATGCTGACCGTCTCCCGGGTCTTGCGCTTCTTGATGGGGAGTACGGTCTCCTGCACAGATCGGATAGAAGACTCCTTCACGGCTTTCTTTTTGGCCTCGGCGGCAGCGGCTGCCACCACACTCCCCGGCTTTCGGCCCCGTTTCTTGGGAATGGCCTGAGGGTCGGCCTCAGCTT	C	C154030654T	MECP2	NM_001110792.2(MECP2):c.803_1211del:p.Lys268fs	coding	Pathogenic
X	154030654	CAGGTGG	C	A154030661G	MECP2	NM_001110792.2(MECP2):c.1198_1203CCACCT[1]:p.Pro402_Pro403del	coding	Benign/Likely_benign
X	154030655	AGGTGGAGGTGG	A	T154030658G	MECP2	NM_001110792.2(MECP2):c.1198_1208del:p.Pro399_Pro400insTer	coding	Pathogenic
X	154030655	AGGTGGAGGTGGGGGCAG	A	T154030658G	MECP2	NM_001110792.2(MECP2):c.1192_1208del:p.Pro397_Leu398insTer	coding	Pathogenic
X	154030655	AGGTGGAGGTGGGGGCAGGGGTGGGAGCAGTGGCACGGGGGCCTTTGGGGACTCTGAGTGGTGGTGATGGTGGTGGTGCTCCTTCTTGGGGGGTGAGGAGGCGCTGCTGCTGCGCCCCTTGGGGCTGCTCTCCTTGCTTTTCCGCCCAGGGCTCTTACAGGTCTTCAGTCCTTTCCCGCTCTTCTCACCGAGGGTGGACACCAGCAGGGGCTTCACCACTTCCTTGACCTCGATGCTGACCGTCTCCCGGGTCTTGCGCT	A	G154030656T	MECP2	NM_001110792.2(MECP2):c.950_1208del:p.Lys317fs	coding	Pathogenic
X	154030655	AGGTGGAGGTGGGGGCAGGGGTGGGAGCAGTGGCACGGGGGCCTTTGGGGACTCTGAGTGGTGGTGATGGTGGTGGTGCTCCTTCTTGGGGGGTGAGGAGGCGCTGCTGCTGCGCCCCTTGGGGCTGCTCTCCTTGCTTTTCCGCCCAGGGCTCTTACAGGTCTTCAGTCCTTTCCCGCTCTTCTCACCGAGGGTGGACACCAGCAGGGGCTTCACCACTTCCTTGACCTCGATGCTGACCGTCTCCCGGGTCTTGCGCTTCTTGATGGGGAGTACGGTCTCCTGCACAGATC	A	T154030658A	MECP2	NM_001110792.2(MECP2):c.917_1208del:p.Arg306fs	coding	Pathogenic
X	154030656	GGTGGAGGTGGGGGCAGGGGTGGGAGCAGTGGCACGGGGGCCTTTGGGGACTCTGA	G	A154030661T	MECP2	NM_001110792.2(MECP2):c.1153_1207del:p.Ser385fs	coding	Pathogenic
X	154030658	TGGAGGTGGGGGCA	T	A154030661G	MECP2	NM_001110792.2(MECP2):c.1193_1205del:p.Leu398fs	coding	Pathogenic
X	154030660	GAGGTGGGGGC	G	T154030664G	MECP2	NM_001110792.2(MECP2):c.1194_1203del:p.Pro399fs	coding	Pathogenic
X	154030661	A	AG	T154030664G	MECP2	NM_001110792.2(MECP2):c.1202dup:p.Pro402fs	coding	Pathogenic
X	154030661	AGGTGGGG	A	G154030663C	MECP2	NM_001110792.2(MECP2):c.1196_1202del:p.Pro399fs	coding	Pathogenic
X	154030661	AGGTGGGGGCAGGGGTGGGAGCAGTGGCACGGGGGCCTTTGGGGACTCTGAGTGGTGGTGATGGTGGTGGTGCTCCTTCTTGGGGGGTGAGGAGGCGCTGCT	A	G154030663C	MECP2	NM_001110792.2(MECP2):c.1102_1202del:p.Ser369fs	coding	Pathogenic
X	154030661	AGGTGGGGGCAGGGGTGGGAGCAGTGGCACGGGGGCCTTTGGGGACTCTGAGTGGTGGTGATGGTGGTGGTGCTCCTTCTTGGGGGGTGAGGAGGCGCTGCTGCTGCGCCCCTTGGGGCTGCTCTCCTTGCTTTTCCGCCCAGGGCTCTTACAGGTCTTCAGTCCTTTCCCGCTCTTCTCACCGAGGGTGGACACCAGCAGGGGCTTCACCACTTCCTTGACCTCGATGCTGACCGTCTCCCGGGTCTTGCGCTTCTTGATGGGGAGTAC	A	G154030665C	MECP2	NM_001110792.2(MECP2):c.934_1202del:p.Val312fs	coding	Pathogenic
X	154030661	AGGTGGGGGCAGGGGTGGGAGCAGTGGCACGGGGGCCTTTGGGGACTCTGAGTGGTGGTGATGGTGGTGGTGCTCCTTCTTGGGGGGTGAGGAGGCGCTGCTGCTGCGCCCCTTGGGGCTGCTCTCCTTGCTTTTCCGCCCAGGGCTCTTACAGGTCTTCAGTCCTTTCCCGCTCTTCTCACCGAGGGTGGACACCAGCAGGGGCTTCACCACTTCCTTGACCTCGATGCTGACCGTCTCCCGGGTCTTGCGCTTCTTGATGGGGAGTACGGTCTCCTGCACAGATCGGATAGAAGACTCCTTCACGGCTTTCTTTTTGGCCTCGGCGGCAGCGGCTGCCACCACACTCCCCGGCTTTCGGCCCCGTTTCTTGGGAATGGCCTGAGGGTCGGCCTCAGCTTTTCGCTTCCTGCCGGGGCGTTTGATCACCATGACCT	A	T154030664G	MECP2	NM_001110792.2(MECP2):c.767_1202del:p.Gln256fs	coding	Pathogenic
X	154030663	GT	G	T154030664G	MECP2	NM_001110792.2(MECP2):c.1200del:p.Pro401fs	coding	Pathogenic
X	154030664	TGG	T	G154030668C	MECP2	NM_001110792.2(MECP2):c.1198_1199del:p.Pro400fs	coding	Pathogenic
X	154030664	T	TG	C154030670G	MECP2	NM_001110792.2(MECP2):c.1199dup:p.Pro401fs	coding	Pathogenic/Likely_pathogenic
X	154030665	GG	TA	G154030665T	MECP2	NM_001110792.2(MECP2):c.1198_1199delinsTA:p.Pro400Ter	coding	Pathogenic
X	154030668	GG	A	G154030668A	MECP2	NM_001110792.2(MECP2):c.1195_1196delinsT:p.Pro399fs	coding	Pathogenic
X	154030669	GCAGGGGTGGGAGCAGTGGCACGGGGGCCTTTGGGGACTCTGAGTGGTGGTGATGGTGGTGGTGCTCCTTCTTGGGGGGTGAGGAGGCGCTGCTGCTGCGCCCCTTGGGGCTGCTCTCCTTGCTTTTCCGCCCAGGGCTCTTACAGGTCTTCAGTCCTTTCCCGCTCTTCTCACCGAGGGTGGACACCAGCAGGGGCTTCACCACTTCCTTGACCTCGATGCTGACCGTCTCCCGGGTCTTGCGCTTCTTGATGGGGAGTACGGTCTCCTGCACAGATCGGATAGAAGACTCCTTCACGGCTTTCTTTTTGGCCTCGGCGGCAGCGGCTGCCACCACACTCCCCGGCTTTCGGCCCCGTTTCTTGGGAATGGCCTGAGGGTCGGCCTCAGCTTTTCGCTTCCTGCCGGGGCGTTTGATCACCATGACCTGGGTGGATGTGGTGGCCCCACCCCCCTCAGCCTTGCCCCCTGGCGAAGTTTGAAAAGGCATCTTGACAAGGAGCTTCCCAGGACTTTTCTCCAGGACCCTTTTCACCTGCACACCCTCTGACGTGGCCGCCTTGGGTCTCGTGGTGCCGCTCCCTTTGGGGCGTCCCCGGCCTCTGCCAGTTCCTGGAGCTTTGGGAGATTTGGGCTTCTTAGGTGGTTTCTGCTCTCGCCGGGAGGGGCTCCCTCTCCCAGTTACCGTGAAGTCAAAATCATTAGGGTCCAGGGATGTGTCGCCTACCTTTTCGAAGTACGCAATCAACTC	G	G154030672C	MECP2	NM_001110792.2(MECP2):c.445_1194del:p.Glu149_Leu398del	coding	Pathogenic
X	154030669	GCAGGGGTGGGAGCAGTGGCACGGGGGCCTTTGGGGACTCTGAGTGGTGGTGATGGTGGTGGTGCTCCTTCTTGGGGGGTGAGGAGGCGCTGCTGCTGCGCCCCTTGGGGCTGCTCTCCTTGCTTTTCCGCCCAGGGCTCTTACAGGTCTTCAGTCCTTTCCCGCTCTTCTCACCGAGGGTGGACACCAGCAGGGGCTTCACCACTTCCTTGACCTCGATGCTGACCGTCTCCCGGGTCTTGCGCTTCTTGATGGGGAGTACGGTCTCCTGCACAGATCGGATAGAAGACTCCTTCACGGCTTTCTTTTTGGCCTCGGCGGCAGCGGCTGCCACCACACTCCCCGGCTTTCGGCCCCGTTTCTTGGGAATGGCCTGAGGGTCGGCCTCAGCTTTT	G	A154030671G	MECP2	NM_001110792.2(MECP2):c.801_1194del:p.Lys268fs	coding	Pathogenic
X	154030669	GCAGGGGTGGGAGCAGTGGCACGGGGGCCTTTGGGGACTCTGAGTGGTGGTGATGGTGGTGGTGCTCCTTCTTGGGGGGTGAGGAGGCGCTGCTGCTGCGCCCCTTGGGGCTGCTCTCCTTGCTTTTCCGCC	G	G154030675C	MECP2	NM_001110792.2(MECP2):c.1064_1194del:p.Gly355fs	coding	Pathogenic
X	154030670	C	CAG	G154030673A	MECP2	NM_001110792.2(MECP2):c.1192_1193dup:p.Pro399fs	coding	Pathogenic
X	154030672	GGGGT	G	T154030676A	MECP2	NM_001110792.2(MECP2):c.1188_1191del:p.Pro397fs	coding	Pathogenic
X	154030685	TGGCACGGG	T	A154030689C	MECP2	NM_001110792.2(MECP2):c.1171_1178del:p.Pro391fs	coding	Pathogenic
X	154030690	C	CG	C154030696G	MECP2	NM_001110792.2(MECP2):c.1173dup:p.Val392fs	coding	Pathogenic
X	154030690	CG	C	G154030695C	MECP2	NM_001110792.2(MECP2):c.1173del:p.Val392fs	coding	Pathogenic/Likely_pathogenic
X	154030690	CGGGGGCCTTTG	C	G154030694A	MECP2	NM_001110792.2(MECP2):c.1163_1173del:p.Pro388fs	coding	Pathogenic
X	154030690	CGGGGGCCTTTGGGGACTCTGAGTGGTGGTGATGGTGGTGGTGCTCCTTCTTGGGGGGTGAGGAGGCGCTGCTGCTGCGCCCCTTGGGGCTGCTCTCCTTGCTTTTCCGCCCAGGGCTCTTACAGGTCTTCAGTCCTTTCCCGCTCTTCTCACCGAGGGTGGACACCAGCAGGGGCTTCACCACTTCCTTGACCTCGATGCTGACCGTCTCCCGGGTCTTGCGCTTCTTGATG	GT	C154030690G	MECP2	NM_001110792.2(MECP2):c.942_1174delinsAC:p.Ile315_Val392delinsLeu	coding	Pathogenic
X	154030694	GGC	G	G154030695C	MECP2	NM_001110792.2(MECP2):c.1168_1169del:p.Ala390fs	coding	Pathogenic
X	154030695	G	GA	C154030696A	MECP2	NM_001110792.2(MECP2):c.1168_1169insT:p.Ala390fs	coding	Pathogenic
X	154030698	TTTGGGGACTCTGAGTGGTGGTGATGGTGGTGGTGCTCCTTC	T	A154030705G	MECP2	NM_001110792.2(MECP2):c.1125_1165del:p.Lys376fs	coding	Pathogenic
X	154030698	TTTGGGGACTCTGAGTGGTGGTGATGGTGGTGGTGCTCCTTCTTGGGGGGTGAGGAGGCGCTGCTGCTGCGCCCC	T	A154030705C	MECP2	NM_001110792.2(MECP2):c.1092_1165del:p.Arg366fs	coding	Pathogenic
X	154030705	ACTCTGAGTGGTGGTGATGGTGGTGGTGCTCCTTCTTGGGGGGTGAGGAGGCGCTGCTGCTGCGCCCCTTGGGGCTGCTCTCCTTGCTTTTCCGCCCAGGGCTCTTACAGGTCTTCAGTCCTTTCCCGCTCTTCTCACCGAGGGTGGACACCAGCAGGGGCTTCACCACTTCCTTGACCTCGATGCTGACCGTCTCCCGGGTCTTGCGCTTCTTGATGGGGAGTACGGTCTCCTGCACAGATCGGATAGAAGACTCCTTCACGGCTTTCTTTTTGGCCTCGGCGGCAGCGGCTGCCACCACACTCCCCGGCTTTCGGCCCCGTTTCTTGGGAATGGCCTGAGGGTCGGCCTCAGCTTTTCGCTTCCTGCCGGGGCGTTTGATCACCATGACCTGGGTGGATGTGGTGGCCCCACCCCCCTCAGCCTTGCCCCCTGGCGAAGTTTGAAAAGGCATCTTGACAAGGAGCTTCCCAGGACTTTTCTCCAGGACCCTTTTCACCTGCACACC	A	G154030712C	MECP2	NM_001110792.2(MECP2):c.652_1158del:p.Gly218_Glu386del	coding	Pathogenic
X	154030708	C	CT	G154030710T	MECP2	NM_001110792.2(MECP2):c.1155dup:p.Glu386fs	coding	Pathogenic
X	154030709	TGAGTGGTGGTGATGGTGGTG	T	A154030711T	MECP2	NM_001110792.2(MECP2):c.1135_1154del:p.His379fs	coding	Pathogenic
X	154030716	T	TG	T154030719G	MECP2	NM_001110792.2(MECP2):c.1147dup:p.His383fs	coding	Pathogenic
X	154030722	TG	T	G154030724T	MECP2	NM_001110792.2(MECP2):c.1141del:p.His381fs	coding	Pathogenic
X	154030728	TGGTGCTCCTTCTTGGGGGGTGAGGAGGCGCTGCTGCTGCGCCCCTTGGGGCTGCTCTCCTTGCTTTTCCGCCCAGGGCTCTTACAGGTCTTCAGTCCTTTCCCGCTCTTCTCACCGAGGGTGGACACCAGCAGGGGCTTCACCACTTCCTTGACCTCGATGCTGACCGTCTCCCGGGTCTTGCGCTTCTTGATGGGGAGTAC	T	G154030732C	MECP2	NM_001110792.2(MECP2):c.934_1135del:p.Val312fs	coding	Pathogenic
X	154030731	TGCTCCTTCTTGGGGGGTGAGGAGGCGCTGCTGCTGCGCCCCTTGGGGCTGCTCTCCTTGCTTTTCCGCCCAGGGCTCTTACAGGTCTTCA	GTGCACTTACAG	T154030731G	MECP2	NM_001110792.2(MECP2):c.1043_1133delinsCTGTAAGTGCAC:p.Leu348fs	coding	Pathogenic
X	154030732	GCTCCTTCTTGGGGGGTGAGGAGGCGCTGCTGCTGCGCCCCTTGGGGCTGCTCTCCTTGCTTTTCCGCCCAGGGCTCTTACAGGTCTTCAGTCCTTTCCCGCTCTTCTCACCGAGGGTGGACACCAGCAGGGGCTTCACCACTTCCTTGACCTCGATGCTGACCGTCTCCCGGGTCTTGCGCTTCTTGATGGGGAGTACGGTC	G	C154030733T	MECP2	NM_001110792.2(MECP2):c.930_1131del:p.Glu310fs	coding	Pathogenic
X	154030738	TCTTGGGGGGTGAGGAGGCGCTGCTGCTGCGCCCCTTGGGGCTGCTC	T	C154030739T	MECP2	NM_001110792.2(MECP2):c.1080_1125del:p.Ser361fs	coding	Pathogenic
X	154030741	TG	T	G154030747T	MECP2	NM_001110792.2(MECP2):c.1122del:p.Lys375fs	coding	Pathogenic
X	154030741	T	TG	T154030748G	MECP2	NM_001110792.2(MECP2):c.1122dup:p.Lys375fs	coding	Pathogenic
X	154030756	CGCT	C	T154030765G	MECP2	NM_001110792.2(MECP2):c.1099_1101AGC[2]:p.Ser369del	coding	Pathogenic
X	154030783	TCTCCTTGCTTTTCCGCCCAGGGCTCTTACAGGTCTTCAGTCCTTTCCCGCTCTTCTCACCGAGGGTGGACACCAGCAGGGGCTTCACCACTTCCTTGACCTCGATGCTGACCGTCTCCCGGGTCTTGCGCTTCTTGATGGGGAGTACGGTCTCCTGCACAGATCGGATAGAAGA	T	G154030790C	MECP2	NM_001110792.2(MECP2):c.907_1080del:p.Ile305_Ser362del	coding	Pathogenic
X	154030798	GC	G	C154030801A	MECP2	NM_001110792.2(MECP2):c.1065del:p.Arg356fs	coding	Pathogenic
X	154030800	CCAGGGCTCTTACAGGTCTT	C	G154030804T	MECP2	NM_001110792.2(MECP2):c.1045_1063del:p.Lys349fs	coding	Pathogenic
X	154030803	G	GCT	G154030804C	MECP2	NM_001110792.2(MECP2):c.1060_1061insAG:p.Pro354fs	coding	Pathogenic
X	154030808	C	CT	A154030811T	MECP2	NM_001110792.2(MECP2):c.1055dup:p.Ser353fs	coding	Pathogenic
X	154030826	TTTCCC	T	T154030827G	MECP2	NM_001110792.2(MECP2):c.1033_1037del:p.Gly345fs	coding	Pathogenic
X	154030829	CCCGCT	C	C154030831T	MECP2	NM_001110792.2(MECP2):c.1030_1034del:p.Ser344fs	coding	Pathogenic
X	154030834	TCTTCT	AAAGAGGAGAAGATGC	T154030834A	MECP2	NM_001110792.1(MECP2):c.1025_10320delAGAAGAinsGCATCTTCTCCTCTTT:p.?	coding	Pathogenic
X	154030875	T	TC	T154030878C	MECP2	NM_001110792.2(MECP2):c.988dup:p.Glu330fs	coding	Pathogenic
X	154030888	TGCTGACCGTCTCCCGGGTCTTGCGCTTCTTGATGGGGAGTACGGTCTCCTGCACAGATCGGATAGAAGACTCCTTCACGGCTTTCTTTTTGGCCTCGGCGGCAGCG	T	A154030893C	MECP2	NM_001110792.2(MECP2):c.870_975del:p.Ala291fs	coding	Pathogenic
X	154030921	TG	T	G154030925A	MECP2	NM_001110792.2(MECP2):c.942del:p.Ile315fs	coding	Pathogenic
X	154030923	GGGAGTAC	G	A154030926T	MECP2	NM_001110792.2(MECP2):c.934_940del:p.Val312fs	coding	Pathogenic
X	154030925	GAGTACGGTCTCCTGCACAGATC	G	A154030926G	MECP2	NM_001110792.2(MECP2):c.917_938del:p.Arg306fs	coding	Pathogenic
X	154030926	AGTAC	A	T154030928G	MECP2	NM_001110792.2(MECP2):c.934_937del:p.Val312fs	coding	Pathogenic
X	154030929	AC	A	C154030930G	MECP2	NM_001110792.2(MECP2):c.934del:p.Val312fs	coding	Pathogenic
X	154030943	AGATCG	A	C154030947A	MECP2	NM_001110792.2(MECP2):c.916_920del:p.Arg306fs	coding	Pathogenic
X	154030944	GA	G	A154030945T	MECP2	NM_001110792.2(MECP2):c.919del:p.Ser307fs	coding	Pathogenic
X	154030948	GGATAGAAGACT	TGTG	G154030948T	MECP2	NM_001110792.2(MECP2):c.905_916delinsCACA:p.Glu302fs	coding	Pathogenic
X	154030953	G	GT	A154030954T	MECP2	NM_001110792.2(MECP2):c.910_911insA:p.Ser304fs	coding	Pathogenic
X	154030958	C	CT	C154030960T	MECP2	NM_001110792.2(MECP2):c.905dup:p.Ser303fs	coding	Pathogenic
X	154030961	CTT	C	T154030962C	MECP2	NM_001110792.2(MECP2):c.901_902del:p.Lys301fs	coding	Pathogenic
X	154030963	T	TC	A154030965C	MECP2	NM_001110792.2(MECP2):c.900dup:p.Lys301fs	coding	Pathogenic
X	154030968	GCTTT	G	C154030973T	MECP2	NM_001110792.2(MECP2):c.888_891AAAG[1]:p.Lys298fs	coding	Pathogenic
X	154030969	CTTTC	AGTCTTTTTTTT	C154030969A	MECP2	NM_001110792.2(MECP2):c.891_895delinsAAAAAAAAGACT:p.Ala299fs	coding	Pathogenic
X	154030973	C	CT	G154030979T	MECP2	NM_001110792.2(MECP2):c.890dup:p.Lys298fs	coding	Pathogenic
X	154030987	CG	C	G154030989C	MECP2	NM_001110792.2(MECP2):c.876del:p.Ala293fs	coding	Pathogenic/Likely_pathogenic
X	154030995	GCTGCCACCACACTCCCC	G	C154030996G	MECP2	NM_001110792.2(MECP2):c.852_868del:p.Gly285fs	coding	Pathogenic
X	154030997	TG	T	G154030998C	MECP2	NM_001110792.2(MECP2):c.866del:p.Ala289fs	coding	Pathogenic
X	154031002	CCA	C	A154031006T	MECP2	NM_001110792.2(MECP2):c.858_859TG[1]:p.Val287fs	coding	Pathogenic
X	154031008	TC	T	C154031012G	MECP2	NM_001110792.2(MECP2):c.855del:p.Ser286fs	coding	Pathogenic
X	154031008	T	TCCCCGGCTTTCGG	T154031027G	MECP2	NM_001110792.2(MECP2):c.843_855dup:p.Ser286fs	coding	Pathogenic
X	154031009	CCCCGGCT	C	C154031010T	MECP2	NM_001110792.2(MECP2):c.848_854del:p.Lys283fs	coding	Pathogenic
X	154031009	CCCCGGCTTTCGGCCCCGTTTCTTGGGAATGGCCT	C	C154031010G	MECP2	NM_001110792.2(MECP2):c.821_854del:p.Gln274fs	coding	Pathogenic
X	154031014	GCTTT	G	T154031016G	MECP2	NM_001110792.2(MECP2):c.846_849del:p.Lys283fs	coding	Pathogenic
X	154031019	CG	C	G154031021C	MECP2	NM_001110792.2(MECP2):c.844del:p.Arg282fs	coding	Pathogenic
X	154031021	GC	G	C154031025G	MECP2	NM_001110792.2(MECP2):c.842del:p.Gly281fs	coding	Pathogenic
X	154031034	GGA	G	G154031035A	MECP2	NM_001110792.2(MECP2):c.828_829del:p.Pro277fs	coding	Pathogenic
X	154031048	G	GTCGGCCTCAGCTTT	C154031066G	MECP2	NM_001110792.2(MECP2):c.802_815dup:p.Asp272fs	coding	Pathogenic
X	154031053	C	CCTCAGCTTTTCGCTTCCTGCCGGGG	G154031080T	MECP2	NM_001110792.2(MECP2):c.786_810dup:p.Ala271delinsProArgGlnGluAlaLysSerTer	coding	Pathogenic
X	154031064	C	CGCTTCCTG	C154031073G	MECP2	NM_001110792.2(MECP2):c.792_799dup:p.Arg267fs	coding	Pathogenic
X	154031068	TCCTGCCGGGGCGTTTGATCACCATGA	T	C154031073G	MECP2	NM_001110792.2(MECP2):c.770_795del:p.Val257fs	coding	Pathogenic
X	154031068	TCCTG	T	T154031071G	MECP2	NM_001110792.2(MECP2):c.792_795del:p.Arg265fs	coding	Pathogenic
X	154031071	TGCCGGGGCGTTTGATCACCATGACCTGGGTGGATGTGGTGGCCCCACCCCCCTCAGCCTTGCCCCCTG	T	C154031074G	MECP2	NM_001110792.2(MECP2):c.725_792del:p.Pro242fs	coding	Pathogenic
X	154031072	GC	G	C154031074G	MECP2	NM_001110792.2(MECP2):c.791del:p.Gly264fs	coding	Pathogenic
X	154031072	G	GC	G154031075C	MECP2	NM_001110792.2(MECP2):c.791dup:p.Arg265fs	coding	Pathogenic
X	154031074	C	CG	C154031079G	MECP2	NM_001110792.2(MECP2):c.789dup:p.Gly264fs	coding	Pathogenic
X	154031074	C	CGG	C154031079G	MECP2	NM_001110792.2(MECP2):c.788_789dup:p.Gly264fs	coding	Pathogenic
X	154031074	CG	C	G154031078C	MECP2	NM_001110792.2(MECP2):c.789del:p.Gly264fs	coding	Pathogenic
X	154031075	GGGGCG	CGGCC	G154031075C	MECP2	NM_001110792.2(MECP2):c.784_789delinsGGCCG:p.Arg262fs	coding	Pathogenic
X	154031076	G	GGGCGT	T154031082G	MECP2	NM_001110792.2(MECP2):c.783_787dup:p.Pro263fs	coding	Pathogenic
X	154031078	G	AAGCTTCCTGA	G154031078A	MECP2	NM_001110792.2(MECP2):c.786delinsTCAGGAAGCTT:p.Pro263fs	coding	Pathogenic
X	154031078	G	GA	C154031079A	MECP2	NM_001110792.2(MECP2):c.785_786insT:p.Gly264fs	coding	Pathogenic
X	154031078	G	GC	G154031080C	MECP2	NM_001110792.2(MECP2):c.785dup:p.Gly264fs	coding	Pathogenic
X	154031079	C	CA	G154031080A	MECP2	NM_001110792.2(MECP2):c.784_785insT:p.Arg262fs	coding	Pathogenic
X	154031079	C	CG	T154031081G	MECP2	NM_001110792.2(MECP2):c.784dup:p.Arg262fs	coding	Pathogenic
X	154031085	ATCACCAT	CAC	A154031085C	MECP2	NM_001110792.2(MECP2):c.772_779delinsGTG:p.Met258fs	coding	Pathogenic
X	154031088	AC	A	C154031090A	MECP2	NM_001110792.2(MECP2):c.775del:p.Met258_Val259insTer	coding	Pathogenic
X	154031091	A	AAT	T154031092A	MECP2	NM_001110792.2(MECP2):c.772_773insAT:p.Met258fs	coding	Pathogenic
X	154031107	T	TG	T154031110G	MECP2	NM_001110792.2(MECP2):c.756dup:p.Thr253fs	coding	Pathogenic
X	154031112	GCCCCACCC	G	C154031116T	MECP2	NM_001110792.2(MECP2):c.744_751del:p.Gly249fs	coding	Pathogenic
X	154031112	GC	G	C154031116A	MECP2	NM_001110792.2(MECP2):c.751del:p.Ala251fs	coding	Pathogenic
X	154031117	A	AC	T154031124C	MECP2	NM_001110792.2(MECP2):c.746dup:p.Gly250fs	coding	Pathogenic
X	154031117	AC	A	C154031123T	MECP2	NM_001110792.2(MECP2):c.746del:p.Gly249fs	coding	Pathogenic
X	154031131	TG	T	G154031132C	MECP2	NM_001110792.2(MECP2):c.732del:p.Lys245fs	coding	Pathogenic
X	154031132	GC	G	C154031137T	MECP2	NM_001110792.2(MECP2):c.731del:p.Gly244fs	coding	Pathogenic
X	154031132	G	GC	T154031138C	MECP2	NM_001110792.2(MECP2):c.731dup:p.Lys245fs	coding	Pathogenic
X	154031137	CT	C	T154031138G	MECP2	NM_001110792.2(MECP2):c.726del:p.Gly244fs	coding	Pathogenic
X	154031149	GA	G	A154031153G	MECP2	NM_001110792.2(MECP2):c.714del:p.Gln239fs	coding	Pathogenic
X	154031150	A	AT	A154031151T	MECP2	NM_001110792.2(MECP2):c.713_714insA:p.Phe238fs	coding	Pathogenic
X	154031151	A	AT	A154031152T	MECP2	NM_001110792.2(MECP2):c.712_713insA:p.Phe238fs	coding	Pathogenic
X	154031156	C	CATCTTGA	C154031164A	MECP2	NM_001110792.2(MECP2):c.701_707dup:p.Met236fs	coding	Pathogenic
X	154031170	GCTTC	G	T154031172C	MECP2	NM_001110792.2(MECP2):c.690_693del:p.Lys231fs	coding	Pathogenic
X	154031175	CCA	C	C154031176G	MECP2	NM_001110792.2(MECP2):c.687_688del:p.Gly230fs	coding	Pathogenic
X	154031193	AC	A	C154031196T	MECP2	NM_001110792.2(MECP2):c.670del:p.Val224fs	coding	Pathogenic
X	154031207	C	CA	C154031209A	MECP2	NM_001110792.2(MECP2):c.656dup:p.Gln220fs	coding	Pathogenic
X	154031210	AC	A	C154031213T	MECP2	NM_001110792.2(MECP2):c.653del:p.Gly218fs	coding	Pathogenic
X	154031212	CCT	C	C154031215G	MECP2	NM_001110792.2(MECP2):c.648_649AG[1]:p.Glu217fs	coding	Pathogenic
X	154031215	C	CT	G154031217T	MECP2	NM_001110792.2(MECP2):c.648dup:p.Glu217fs	coding	Pathogenic
X	154031216	TG	CT	T154031216C	MECP2	NM_001110792.2(MECP2):c.647_648delinsAG:p.Ser216Ter	coding	Pathogenic
X	154031219	C	CT	G154031220T	MECP2	NM_001110792.2(MECP2):c.644_645insA:p.Ser216fs	coding	Pathogenic
X	154031226	G	GC	T154031229C	MECP2	NM_001110792.2(MECP2):c.637dup:p.Ala213fs	coding	Pathogenic
X	154031260	G	GT	C154031262T	MECP2	NM_001110792.2(MECP2):c.603dup:p.Arg202fs	coding	Pathogenic
X	154031261	TC	T	C154031265G	MECP2	NM_001110792.2(MECP2):c.602del:p.Gly201fs	coding	Pathogenic
X	154031261	T	TC	G154031266C	MECP2	NM_001110792.2(MECP2):c.602dup:p.Arg202fs	coding	Pathogenic
X	154031273	GC	G	C154031275A	MECP2	NM_001110792.2(MECP2):c.590del:p.Gly197fs	coding	Pathogenic
X	154031283	GGA	G	A154031285C	MECP2	NM_001110792.2(MECP2):c.579_580del:p.Pro194fs	coding	Pathogenic
X	154031296	AT	A	T154031299G	MECP2	NM_001110792.2(MECP2):c.567del:p.Lys189fs	coding	Pathogenic
X	154031332	AG	A	G154031336C	MECP2	NM_001110792.2(MECP2):c.531del:p.Ser178fs	coding	Pathogenic
X	154031338	TCC	T	C154031340T	MECP2	NM_001110792.2(MECP2):c.524_525del:p.Gly175fs	coding	Pathogenic
X	154031343	C	CT	C154031345T	MECP2	NM_001110792.2(MECP2):c.520dup:p.Arg174fs	coding	Pathogenic
X	154031344	TC	T	C154031347A	MECP2	NM_001110792.2(MECP2):c.519del:p.Arg174fs	coding	Pathogenic
X	154031346	CCA	C	C154031347G	MECP2	NM_001110792.2(MECP2):c.516_517del:p.Gly173fs	coding	Pathogenic
X	154031347	CA	C	A154031348G	MECP2	NM_001110792.2(MECP2):c.516del:p.Arg174fs	coding	Pathogenic
X	154031352	AC	A	C154031354G	MECP2	NM_001110792.2(MECP2):c.511del:p.Thr170_Val171insTer	coding	Pathogenic
X	154031356	TGA	T	G154031357A	MECP2	NM_001110792.2(MECP2):c.506_507del:p.Phe169fs	coding	Pathogenic
X	154031357	G	GA	G154031360A	MECP2	NM_001110792.2(MECP2):c.506dup:p.Thr170fs	coding	Pathogenic
X	154031376	TC	T	C154031378A	MECP2	NM_001110792.2(MECP2):c.487del:p.Asp163fs	coding	Pathogenic
X	154031388	TC	T	C154031389G	MECP2	NM_001110792.2(MECP2):c.475del:p.Asp159fs	coding	Pathogenic
X	154031396	CT	C	T154031400C	MECP2	NM_001110792.2(MECP2):c.467del:p.Lys156fs	coding	Pathogenic
X	154031399	T	TA	T154031400A	MECP2	NM_001110792.2(MECP2):c.464_465insT:p.Glu155fs	coding	Pathogenic
X	154031405	G	GT	A154031407T	MECP2	NM_001110792.2(MECP2):c.458dup:p.Tyr153Ter	coding	Pathogenic
X	154031407	AC	A	C154031408G	MECP2	NM_001110792.2(MECP2):c.456del:p.Tyr153fs	coding	Pathogenic
X	154031416	AC	A	C154031417T	MECP2	NM_001110792.2(MECP2):c.447del:p.Glu149fs	coding	Pathogenic
X	154031437	CT	C	T154031441C	MECP2	NM_001110792.2(MECP2):c.426del:p.Ala143fs	coding	Pathogenic
X	154031444	CTGGGGACTG	C	T154031452A	MECP2	NM_001110792.2(MECP2):c.414-3_419del	coding	Pathogenic
X	154031466	GA	G	A154031469G	MECP2	NM_004992.3(MECP2):c.378-17del	noncoding	Benign/Likely_benign
X	154032208	TG	T	G154032209A	MECP2	NM_001110792.2(MECP2):c.411del:p.Asn138fs	coding	Pathogenic
X	154032234	GCAGAGCGGC	G	G154032239T	MECP2	NM_001110792.2(MECP2):c.377_385del:p.Gly126_Ser128del	coding	Pathogenic
X	154032238	AG	A	G154032239C	MECP2	NM_001110792.2(MECP2):c.381del:p.Ser128fs	coding	Pathogenic
X	154032257	C	CT	A154032260T	MECP2	NM_001110792.2(MECP2):c.362dup:p.Gln122fs	coding	Pathogenic
X	154032260	AAGCTTCCGTGTCC	A	T154032264C	MECP2	NM_001110792.2(MECP2):c.347_359del:p.Trp116fs	coding	Pathogenic
X	154032262	G	GCTTC	G154032268T	MECP2	NM_001110792.2(MECP2):c.354_357dup:p.Leu120fs	coding	Pathogenic
X	154032268	G	GT	G154032270T	MECP2	NM_001110792.2(MECP2):c.351dup:p.Arg118fs	coding	Pathogenic
X	154032286	GGGT	G	T154032289G	MECP2	NM_001110792.2(MECP2):c.331_333del:p.Thr111del	coding	Pathogenic
X	154032288	G	GT	G154032290T	MECP2	NM_001110792.2(MECP2):c.331dup:p.Thr111fs	coding	Pathogenic
X	154032297	TCATA	T	A154032301G	MECP2	NM_001110792.2(MECP2):c.319_322del:p.Tyr107fs	coding	Pathogenic
X	154032308	TC	T	C154032312G	MECP2	NM_001110792.2(MECP2):c.311del:p.Gly104fs	coding	Pathogenic
X	154032308	T	TCC	G154032313C	MECP2	NM_001110792.2(MECP2):c.310_311dup:p.Pro105fs	coding	Pathogenic
X	154032308	T	TC	G154032313C	MECP2	NM_001110792.2(MECP2):c.311dup:p.Pro105fs	coding	Pathogenic
X	154032324	ATG	A	T154032325G	MECP2	NM_001110792.2(MECP2):c.294_295del:p.Ile99fs	coding	Pathogenic
X	154032340	T	TG	A154032346G	MECP2	NM_001110792.2(MECP2):c.279dup:p.Lys94fs	coding	Pathogenic
X	154032345	GAGGCAGAAGC	G	A154032346T	MECP2	NM_001110792.2(MECP2):c.265_274del:p.Ala89fs	coding	Pathogenic
X	154032350	AG	A	G154032351A	MECP2	NM_001110792.2(MECP2):c.269del:p.Ser90fs	coding	Pathogenic
X	154032368	C	CA	G154032369A	MECP2	NM_001110792.2(MECP2):c.251_252insT:p.Ala85fs	coding	Pathogenic
X	154032368	C	CG	C154032373G	MECP2	NM_001110792.2(MECP2):c.251dup:p.Ala85fs	coding	Pathogenic
X	154032368	CG	C	G154032372C	MECP2	NM_001110792.2(MECP2):c.251del:p.Pro84fs	coding	Pathogenic
X	154032374	G	GT	G154032375T	MECP2	NM_001110792.2(MECP2):c.245_246insA:p.Ala83fs	coding	Pathogenic
X	154032382	AC	A	C154032385T	MECP2	NM_001110792.2(MECP2):c.237del:p.Ser80fs	coding	Pathogenic
X	154032393	GTC	G	C154032397G	MECP2	NM_001110792.2(MECP2):c.223_224GA[1]:p.Glu75fs	coding	Pathogenic
X	154032415	CGG	C	G154032417C	MECP2	NM_001110792.2(MECP2):c.203_204del:p.Pro68fs	coding	Pathogenic
X	154032443	C	CT	G154032445T	MECP2	NM_001110792.2(MECP2):c.176dup:p.Pro60fs	coding	Pathogenic
X	154032457	G	GC	T154032459C	MECP2	NM_001110792.2(MECP2):c.162dup:p.His55fs	coding	Pathogenic
X	154032459	TTGCC	T	T154032460C	MECP2	NM_001110792.2(MECP2):c.157_160del:p.Gly53fs	coding	Pathogenic
X	154032463	CCT	C	C154032466T	MECP2	NM_001110792.2(MECP2):c.153_154AG[1]:p.Glu52fs	coding	Pathogenic
X	154032466	C	CT	C154032470T	MECP2	NM_001110792.2(MECP2):c.153dup:p.Glu52fs	coding	Pathogenic
X	154032471	T	TCTTTGGC	C154032475T	MECP2	NM_001110792.2(MECP2):c.148_149insGCCAAAG:p.Glu50fs	coding	Pathogenic
X	154032472	CTTCT	C	T154032478A	MECP2	NM_001110792.2(MECP2):c.140_143AGAA[1]:p.Glu49fs	coding	Pathogenic
X	154032475	CTT	C	T154032477C	MECP2	NM_001110792.2(MECP2):c.143_144del:p.Lys48fs	coding	Pathogenic
X	154032480	TTATC	T	A154032482T	MECP2	NM_001110792.2(MECP2):c.136_139del:p.Asp46fs	coding	Pathogenic
X	154032481	TA	T	A154032482T	MECP2	NM_001110792.2(MECP2):c.138del:p.Asp46fs	coding	Pathogenic
X	154032492	AC	A	C154032494T	MECP2	NM_001110792.2(MECP2):c.127del:p.Lys42_Val43insTer	coding	Pathogenic
X	154032507	AG	A	G154032511T	MECP2	NM_001110792.2(MECP2):c.112del:p.Leu38fs	coding	Pathogenic
X	154032524	GC	G	C154032527T	MECP2	NM_001110792.2(MECP2):c.95del:p.Gly32fs	coding	Pathogenic
X	154032526	CCTGGAGGTCCT	C	C154032527G	MECP2	NM_001110792.2(MECP2):c.83_93del:p.Gln28fs	coding	Pathogenic
X	154032527	C	CT	G154032529T	MECP2	NM_001110792.2(MECP2):c.92dup:p.Leu33fs	coding	Pathogenic
X	154032533	G	GT	C154032535T	MECP2	NM_001110792.2(MECP2):c.86dup:p.Asp29fs	coding	Pathogenic
X	154032541	C	CTTCTGACT	T154032552C	MECP2	NM_001110792.2(MECP2):c.71_78dup:p.Asp27fs	coding	Pathogenic
X	154092100	CT	C	T154092116A	MECP2	NM_001110792.2(MECP2):c.62+5503del	noncoding	Benign
X	154097600	TCA	T	C154097603G	MECP2	NM_001110792.2(MECP2):c.62+2_62+3del	noncoding	Pathogenic
X	154097605	GTC	G	T154097610C	MECP2	NM_001110792.2(MECP2):c.55_56GA[2]:p.Arg20fs	coding	Pathogenic
X	154097606	TCTCTCCTC	T	T154097610G	MECP2	NM_001110792.2(MECP2):c.52_59del:p.Glu18fs	coding	Pathogenic
X	154097608	TCTCCTCCTCGC	T	G154097618C	MECP2	NM_001110792.2(MECP2):c.47_57del:p.Gly16fs	coding	Pathogenic
X	154097608	T	TCTCCTCCTCGC	C154097629G	MECP2	NM_001110792.2(MECP2):c.47_57dup:p.Arg20fs	coding	Pathogenic
X	154097608	T	TCTCCTCCTCGCCTC	C154097632G	MECP2	NM_001110792.2(MECP2):c.44_57dup:p.Arg20fs	coding	Pathogenic
X	154097608	T	TCTCCTCCTCGCCTCCTC	C154097635G	MECP2	NM_001110792.2(MECP2):c.41_57dup:p.Arg20fs	coding	Pathogenic
X	154097610	TCCTCCTCG	T	G154097618C	MECP2	NM_001110792.2(MECP2):c.48_55del:p.Glu18fs	coding	Pathogenic
X	154097610	T	TCCTCCTCG	C154097626G	MECP2	NM_001110792.2(MECP2):c.48_55dup:p.Glu19fs	coding	Pathogenic
X	154097634	CCG	C	G154097636T	MECP2	NM_001110792.2(MECP2):c.30_31del:p.Ser10fs	coding	Pathogenic
X	154097636	G	TC	G154097636T	MECP2	NM_001110792.2(MECP2):c.30delinsGA:p.Ser10fs	coding	Pathogenic
X	154097638	T	TCGGCG	G154097649C	MECP2	NM_001110792.2(MECP2):c.18_22CGCCG[3]:p.Ser10fs	coding	Pathogenic
X	154097642	CG	C	G154097643C	MECP2	NM_001110792.2(MECP2):c.23del:p.Ala8fs	coding	Pathogenic
X	154097642	CGCG	C	G154097660C	MECP2	NM_001110792.2(MECP2):c.6_8CGC[5]:p.Ala8del	coding	Benign
X	154097690	CCT	C	T154097696C	MECP2	NM_001110792.2(MECP2):c.-31AG[2]	noncoding	Benign/Likely_benign
X	154348850	CAG	C	A154348851G	FLNA	NM_001110556.2(FLNA):c.7941_7942del:p.Ter2648SerextTer?	coding	Pathogenic
X	154348919	TCC	T	C154348923T	FLNA	NM_001110556.2(FLNA):c.7872_7873del:p.Glu2625fs	coding	Pathogenic
X	154349013	C	CCCCCGAA	A154349018G	FLNA	NM_001110556.2(FLNA):c.7779_7780insTTCGGGG:p.Val2594fs	coding	Pathogenic/Likely_pathogenic
X	154349504	CAG	C	A154349509T	FLNA	NM_001110556.2(FLNA):c.7612_7613del:p.Leu2538fs	coding	Pathogenic
X	154349642	GGCTCACCT	G	C154349644T	FLNA	NM_001110556.2(FLNA):c.7551_7552+6del	noncoding	Pathogenic
X	154352311	GCTGA	G	A154352315T	FLNA	NM_001110556.2(FLNA):c.6635_6638del:p.Val2212fs	coding	Pathogenic
X	154352348	CG	C	G154352350A	FLNA	NM_001110556.2(FLNA):c.6601del:p.Arg2201fs	coding	Pathogenic
X	154352363	TG	T	G154352365T	FLNA	NM_001110556.2(FLNA):c.6586del:p.His2196fs	coding	Pathogenic
X	154352667	A	AG	C154352672G	FLNA	NM_001110556.2(FLNA):c.6387dup:p.Phe2130fs	coding	Pathogenic
X	154352794	CTT	C	T154352795G	FLNA	NM_001110556.2(FLNA):c.6355_6356del:p.Lys2119fs	coding	Pathogenic
X	154352823	CT	C	T154352824G	FLNA	NM_001110556.2(FLNA):c.6327del:p.Glu2110fs	coding	Pathogenic
X	154352900	A	AT	G154352902T	FLNA	NM_001110556.2(FLNA):c.6250dup:p.Ile2084fs	coding	Pathogenic
X	154352902	G	GGACA	G154352908A	FLNA	NM_001110556.2(FLNA):c.6245_6248dup:p.Ile2084fs	coding	Pathogenic
X	154353328	CAG	C	A154353329G	FLNA	NM_001110556.2(FLNA):c.5988_5989del:p.Cys1997fs	coding	Pathogenic
X	154353375	GCTGAGATCCGTCT	G	C154353383G	FLNA	NM_001110556.2(FLNA):c.5930_5942del:p.Glu1977fs	coding	Pathogenic
X	154353438	C	CA	T154353440A	FLNA	NM_001110556.2(FLNA):c.5879dup:p.Met1960fs	coding	Pathogenic
X	154353559	AC	A	C154353562G	FLNA	NM_001110556.2(FLNA):c.5854del:p.Val1952fs	coding	Pathogenic
X	154353957	TG	T	G154353958T	FLNA	NM_001110556.2(FLNA):c.5643del:p.Asn1881fs	coding	Pathogenic
X	154354909	GA	TT	G154354909T	FLNA	NM_001110556.2(FLNA):c.5132_5133delinsAA:p.Phe1711Ter	coding	Pathogenic
X	154357466	GGCACGGCAC	G	G154357472C	FLNA	NM_001110556.2(FLNA):c.4904_4912del:p.Arg1635_Val1637del	coding	Pathogenic
X	154357526	ATGGTGTAGCGACC	A	G154357529T	FLNA	NM_001110556.2(FLNA):c.4840_4852del:p.Gly1614fs	coding	Pathogenic
X	154357600	C	CTT	C154357603T	FLNA	NM_001110556.2(FLNA):c.4777_4778dup:p.Thr1594fs	coding	Pathogenic
X	154358180	GCCTGTGCCCGGAGCTCACCGTGAT	G	C154358182T	FLNA	NM_001110556.2(FLNA):c.4750_4755+18del	noncoding	Pathogenic/Likely_pathogenic
X	154358294	CG	C	G154358298C	FLNA	NM_001110556.2(FLNA):c.4659del:p.Leu1555fs	coding	Pathogenic
X	154359010	A	AAT	G154359013A	FLNA	NM_001110556.2(FLNA):c.4446_4447dup:p.Leu1483fs	coding	Pathogenic
X	154359272	ACGTTGAGG	GCCA	A154359272G	FLNA	NM_001110556.2(FLNA):c.4269_4277delinsTGGC:p.Leu1424fs	coding	Pathogenic
X	154359401	GC	G	C154359402T	FLNA	NM_001110556.2(FLNA):c.4147del:p.Ala1383fs	coding	Pathogenic
X	154359551	G	GCACC	G154359557A	FLNA	NM_001110556.2(FLNA):c.4071_4074dup:p.Arg1359fs	coding	Pathogenic
X	154359720	CCCAG	C	C154359722A	FLNA	NM_001110556.2(FLNA):c.3979+8_3979+11del	noncoding	Benign/Likely_benign
X	154359789	AG	A	G154359791T	FLNA	NM_001110556.2(FLNA):c.3921del:p.Tyr1308fs	coding	Pathogenic
X	154359896	CG	C	G154359898A	FLNA	NM_001110556.2(FLNA):c.3814del:p.Arg1272fs	coding	Pathogenic
X	154360386	T	TG	A154360388G	FLNA	NM_001110556.2(FLNA):c.3408dup:p.Asn1137fs	coding	Pathogenic
X	154360491	GGCCCAGGC	CCGA	G154360491C	FLNA	NM_001110556.2(FLNA):c.3296_3304delinsTCGG:p.Gly1099fs	coding	Pathogenic
X	154360591	AG	A	G154360594A	FLNA	NM_001110556.2(FLNA):c.3208-5del	noncoding	Benign
X	154361361	C	CG	C154361365G	FLNA	NM_001110556.2(FLNA):c.3153dup:p.Val1052fs	coding	Pathogenic
X	154361785	AC	A	C154361788T	FLNA	NM_001456.3(FLNA):c.2828delG	coding	Pathogenic
X	154361812	GGGTATTTAGAGACACCAGAATTGCTCCCCAACCCCCTCCTGGACCTCCATGCCTGTCCTCTCCCAGGTAAGGAATGAGAGTGGGCAGAAAGTCCCTCGGAGCTGTCCCCTAGGCTGCTGCATGAGGAGGCTGGGGACTCGGTGACTGTAGTGGAGGGTGTGGCTACCTGCTGGACAGGCGTGTACTTGACTGTGTAGGTGTTGTCATGGTGGTCGATGATGTCCACATCTCGCACTGCATCCCCCTTGGTGAGTCCTGAGAACTGGACGTCCAGCTTGCCTTTGCCAGCAGCTTTGGCATTTACTGTGAAGTGGGTGGGCTTGCCAAGCTCGACACCTGAGGAACACACAGGGACCATGTAGGGGCACCCTGCCCCAAGCCCTCCTACCCTTGATGCCCCGCAACCTGCCATGGGGTACCTGTCCTCACCAGTGCGACTGAGGCCAGGGCCCTCGGCCTTCACCTTACTGGCGTCATGAGAGGGCTCCACCTTGACTCGGATGGGGCTGGTGGGCGTGGCCTGCAGGCAGTGGGAGGAGAAGGCCTTAGAGGAGGGCAGACGTCATCCGCAATGACATCTTAGCGGCCAGGAGCGCAGCACCCACCTGGTCAGCAAAGAGGACCATAATGGTGTAGCTGCCAGCCCCCCGGGGCGTGTACTTGACCGTGAAGGTGTCATTGTCATTGCGGATGATGTCGAAGTCGATGTCAGCTTCGGCGGGGCCTACCACTCCAGGGGCACACTTGATGCCGATGCTGACGTCCCCTGCGGCGGGGAGAGGAGCGGAGGCTGAGACCTCGCAGGGACACCCCAGCCACCTGCCCTCCCACCCACAGCCAGGCCTTACCCTGGCCAGCCTCGGCGCAGTCCACAGTGAAGTAGGTGGGCTCGTGGGCCTTGAGCCCTGTCTTGGCTACTCCGGGGCCGTATACTTTGACCTTGTTGGGGTGGCTGCCAGCTCCCACATTCACCTGCAGGGCACAGGGGCAAGGGCAAGGGCATGAGCAGCCTGGAGGAGACTCAGAAGCTCCCTCAGCTACACTGGCAGGCACACAAAATGGTCCAGCTGCCTTGGGAAGAGTCTGGCAGTTCCTCAGTTGACCACAGAGGGACTGTGTGATGCTCCGGTTCACTCCGAGGCAACTACCCAAGAGAAATGAAAGCAAATGTCCACGCAAACACCTGGACTCACTGTTAACAGCACTGTTCATGATCACCAAAGGCAAGCTCATCCTCAATATCTGTTAGCAAGTGAACGGAAAAATGGAATGTGGTCTGGCCACACAATGGAGTATTATGCGGCCATAAAAATAAATGAAGCGGCCGGACGTGGTGGCTCATGCCTGTAATCCCAGCACTTTGGAAGGCCAAGGTGGGCGGACCACCTGGGGTCAGGCGGTTGAGACCAGTCTGACCAACATGGAGAAACCCCGTCTCTACTAAAAATACAAAATTAGCTGGGAATGGTGGCGTATGCCTGCAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAGAATTGCTTGAATCTGGCAGGCAGAGGTTGCAGTGAGCTGAGATCACGTCATTGCACTCCAGCCTGGCAATAAGAGCAAAACTCCGGCTCAAAAAAAAAAAACCAGGATGGGCGCGGTGGCTCATGCCTGTCATCCCAGCACTTTGGGAGGCCGAGGTGGGCAGATCACAAGGTCAGGAGATCGACACCATCCTGGCTAACACAGTGAAACCTTGTCTCTACTAAAAATACAAAAAATTAGCCGGGGGGGTGGCGGGCGCCTGTAGTCCCAGCTACCCGGGAGGCTGAGGCAAGACAATGGTGTGAACCTGGGAGAAAGAGCCTGCAGTGAGCCGAGATCGCGCCATTGCACTCCAGCCTGGGCGACAGTGTGAGACTCCATCTCAAATAAATAAATAAATAAACAAAATAATTATAAAGGAACAAAGT	CA	G154361812C	FLNA	NM_001110556.2(FLNA):c.2280+266_2827-25delinsTG	noncoding	Pathogenic
X	154362042	TC	T	C154362043G	FLNA	NM_001110556.2(FLNA):c.2762del:p.Arg921fs	coding	Pathogenic
X	154362530	GC	G	C154362531G	FLNA	NM_001110556.2(FLNA):c.2452del:p.Ala818fs	coding	Pathogenic
X	154362582	C	CGGCG	G154362589C	FLNA	NM_001110556.2(FLNA):c.2405-8_2405-5dup	noncoding	Benign
X	154362698	G	GA	G154362699A	FLNA	NM_001110556.2(FLNA):c.2366_2367insT:p.Thr790fs	coding	Pathogenic
X	154362725	G	GTT	G154362726T	FLNA	NM_001110556.2(FLNA):c.2339_2340insAA:p.Lys781fs	coding	Pathogenic
X	154362745	C	CTT	G154362749T	FLNA	NM_001110556.2(FLNA):c.2318_2319dup:p.Val774fs	coding	Pathogenic
X	154362781	T	TC	A154362783C	FLNA	NM_001110556.2(FLNA):c.2283dup:p.Asn762fs	coding	Pathogenic
X	154364526	CCT	C	C154364527G	FLNA	NM_001110556.2(FLNA):c.2020_2021del:p.Arg674fs	coding	Pathogenic
X	154364609	CGTGAACG	C	T154364611C	FLNA	NM_001110556.2(FLNA):c.1932_1938del:p.Val645fs	coding	Pathogenic
X	154366618	C	CGTTATTGGCG	C154366631T	FLNA	NM_001110556.2(FLNA):c.999_1008dup:p.Asp337delinsArgGlnTer	coding	Pathogenic
X	154366826	ACCATGTTG	A	A154366829T	FLNA	NM_001110556.2(FLNA):c.885_892del:p.Asn296fs	coding	Pathogenic
X	154370954	TGGGCC	T	G154370956C	FLNA	NM_001110556.2(FLNA):c.287_291del:p.Arg96fs	coding	Pathogenic
X	154371106	T	TTC	G154371110C	FLNA	NM_001110556.2(FLNA):c.138_139dup:p.Asn47fs	coding	Pathogenic
X	154371177	CGT	C	G154371180C	FLNA	NM_001110556.2(FLNA):c.65_66AC[1]:p.Thr23fs	coding	Pathogenic
X	154371181	T	TCGA	C154371187A	FLNA	NM_001110556.2(FLNA):c.62_64dup:p.Val21dup	coding	Benign/Likely_benign
X	154371203	CG	C	G154371204C	FLNA	NM_001110556.2(FLNA):c.42del:p.Ala15fs	coding	Pathogenic
X	154371226	CGA	C	A154371230T	FLNA	NM_001110556.2(FLNA):c.16_17TC[1]:p.Arg7fs	coding	Pathogenic
X	154371263	C	CG	C154371271G	FLNA	NM_001110556.2(FLNA):c.-19dup	noncoding	Benign
X	154379543	AC	A	C154379544A	EMD	NM_000117.2(EMD):c.60del:p.Asn20fs	coding	Pathogenic/Likely_pathogenic
X	154379560	G	GT	A154379562T	EMD	NM_000117.3(EMD):c.77dup:p.Val27fs	coding	Pathogenic
X	154379707	T	TA	C154379709A	EMD	NM_000117.2(EMD):c.101dup:p.Tyr34Ter	coding	Pathogenic
X	154379720	TCTTCGAGTACGAGACCCAGAGGCGGCGG	T	T154379723C	EMD	NM_000117.2(EMD):c.116_143del:p.Phe39fs	coding	Pathogenic
X	154379725	GAGTACGAGACCCAGAGGCGGCGGCTCTCGCCCCCC	G	T154379728C	EMD	NM_000117.2(EMD):c.121_155del:p.Tyr41fs	coding	Pathogenic
X	154379740	A	AG	C154379743G	EMD	NM_000117.2(EMD):c.135dup:p.Arg46fs	coding	Pathogenic
X	154379754	G	GC	A154379761C	EMD	NM_000117.2(EMD):c.153dup:p.Ser52fs	coding	Pathogenic
X	154379781	TTA	T	T154379784G	EMD	NM_000117.3(EMD):c.175_176TA[1]:p.Tyr59_Ser60delinsTer	coding	Pathogenic
X	154379790	C	CT	C154379792T	EMD	NM_000117.2(EMD):c.184dup:p.Ser62fs	coding	Pathogenic
X	154379968	G	GAT	G154379973A	EMD	NM_000117.2(EMD):c.215_216AT[3]:p.Met73fs	coding	Pathogenic
X	154379993	A	AT	G154379994T	EMD	NM_000117.2(EMD):c.239_240insT:p.Glu80fs	coding	Pathogenic
X	154380001	TTACTC	T	T154380005C	EMD	NM_000117.2(EMD):c.251_255del:p.Leu84fs	coding	Pathogenic
X	154380896	ACGGC	A	C154380900G	EMD	NM_000117.2(EMD):c.468_471del:p.Arg157fs	coding	Pathogenic
X	154380906	CAG	C	A154380907T	EMD	NM_000117.3(EMD):c.475_476del:p.Ser159fs	coding	Pathogenic
X	154381012	TCA	T	C154381013T	EMD	NM_000117.2(EMD):c.581_582del:p.Ser194fs	coding	Pathogenic
X	154381036	AC	A	C154381039G	EMD	NM_000117.2(EMD):c.607del:p.Arg203fs	coding	Pathogenic
X	154381049	TC	T	C154381051G	EMD	NM_000117.3(EMD):c.619del:p.Arg207fs	coding	Pathogenic
X	154381051	CG	C	G154381053C	EMD	NM_000117.2(EMD):c.621del:p.Pro208fs	coding	Pathogenic
X	154381072	G	GGGGCT	C154381087T	EMD	NM_000117.2(EMD):c.650_654dupTGGGC	coding	Pathogenic
X	154381105	CTCTGG	C	T154381106G	EMD	NM_000117.2(EMD):c.674_678del:p.Leu225fs	coding	Pathogenic
X	154412119	AG	A	G154412121T	TAZ	NM_000116.5(TAZ):c.145del:p.Val49fs	coding	Pathogenic
X	154419561	AG	A	G154419565A	TAZ	NM_000116.5(TAZ):c.483del:p.Met162fs	coding	Pathogenic
X	154419567	T	TG	A154419570G	TAZ	NM_000116.5(TAZ):c.487dup:p.Asp163fs	coding	Pathogenic
X	154420050	CTGAG	C	A154420053T	TAZ	NM_000116.5(TAZ):c.605_608del:p.Glu202fs	coding	Pathogenic
X	154420248	TC	T	C154420253G	TAZ	NM_000116.5(TAZ):c.688del:p.Arg230fs	coding	Pathogenic
X	154420665	CTG	C	T154420668C	TAZ	NM_000116.5(TAZ):c.708_709TG[1]:p.Val237fs	coding	Pathogenic
X	154442177	CCAGCA	C	A154442179T	GDI1	NM_001493.3(GDI1):c.1060_1064del:p.Ser354fs	coding	Pathogenic
X	154442406	T	TTGATACA	G154442411A	GDI1	NM_001493.3(GDI1):c.1173_1174insACATGAT:p.Asp392delinsThrTer	coding	Pathogenic
X	154442419	TGA	T	A154442423C	GDI1	NM_001493.3(GDI1):c.1184_1185AG[1]:p.Ser396fs	coding	Pathogenic
X	154533012	CGTGGGGTCGTCCAGGTACCCTTTG	C	G154533017C	G6PD	G6PD_NARA	coding	Pathogenic
X	154534164	CAGGG	C	A154534169G	G6PD	NM_001360016.2(G6PD):c.645-8_645-5del	noncoding	Benign
X	154534529	GA	G	A154534531C	G6PD	NM_001360016.2(G6PD):c.486-34del	noncoding	Benign
X	154552111	G	GC	A154552114C	IKBKG	NM_003639.4(IKBKG):c.111dup:p.Met38fs	coding	Pathogenic
X	154552119	G	GCACCTGCCTT	G154552132C	IKBKG	NM_001099857.5(IKBKG):c.120_129dup:p.Glu44fs	coding	Pathogenic
X	154556194	CG	C	G154556197A	IKBKG	NM_003639.4(IKBKG):c.220del:p.Glu74fs	coding	Pathogenic
X	154560403	C	CCAGG	G154560408C	IKBKG	NM_003639.4(IKBKG):c.519-3_519dup	noncoding	Pathogenic
X	154560538	G	GCCAGGCCGCCT	G154560551C	IKBKG	NM_003639.4(IKBKG):c.652_662dup:p.Glu222fs	coding	Pathogenic
X	154560549	TC	T	C154560550G	IKBKG	NM_003639.4(IKBKG):c.662del:p.Ser221fs	coding	Pathogenic
X	154562830	C	CA	C154562834A	IKBKG	NM_003639.4(IKBKG):c.792dup:p.Gln265fs	coding	Pathogenic
X	154562847	AGGCCGAGGAGGCCCTGGT	A	G154562852A	IKBKG	NM_003639.4(IKBKG):c.811_828del:p.Glu271_Ala276del	coding	Pathogenic
X	154564007	G	GC	G154564014C	IKBKG	NM_003639.4(IKBKG):c.1110dup:p.Ala371fs	coding	Pathogenic
X	154564008	C	CG	C154564009G	IKBKG	NM_003639.4(IKBKG):c.1105_1106insG:p.Pro369fs	coding	Pathogenic
X	154564361	G	GC	G154564369C	IKBKG	NM_003639.4(IKBKG):c.1167dup:p.Glu390fs	coding	Pathogenic
X	154564364	C	CCCCCGAGGAGCCA	T154564380C	IKBKG	NM_001099857.5(IKBKG):c.1166_1178dup:p.Asp394fs	coding	Pathogenic
X	154765949	CT	TA	C154765949T	DKC1	NM_001363.5(DKC1):c.214_215delinsTA:p.Leu72Tyr	coding	Pathogenic
X	154776255	AAAG	A	A154776263G	DKC1	NM_001363.5(DKC1):c.1409_1411AGA[2]:p.Lys472del	coding	Benign
X	154776813	CAAGAAG	C	G154776831A	DKC1	NM_001363.5(DKC1):c.1494_1496GAA[5]:p.Lys504_Lys505del	coding	Benign
X	154776813	C	CAAG	A154776837G	DKC1	NM_001363.5(DKC1):c.1494_1496GAA[8]:p.Lys505dup	coding	Benign
X	154837734	CTTGAT	C	G154837737C	F8	NM_000132.3(F8):c.6914_6918del:p.Asn2305fs	coding	Pathogenic
X	154860454	AAG	A	A154860459T	F8	NM_000132.4(F8):c.6876_6877del:p.Phe2294fs	coding	Pathogenic
X	154860536	CCT	C	C154860537G	F8	NM_000132.3(F8):c.6794_6795del:p.Gln2265fs	coding	Pathogenic
X	154861741	TC	T	C154861744T	F8	NM_000132.3(F8):c.6699del:p.Arg2234fs	coding	Pathogenic
X	154863191	GTT	G	T154863194A	F8	NM_000132.3(F8):c.6464_6465del:p.Lys2155fs	coding	Pathogenic
X	154896092	GGA	G	G154896093A	F8	NM_000132.3(F8):c.6412_6413del:p.Ser2138fs	coding	Pathogenic
X	154902116	AC	A	C154902119G	F8	NM_000132.3(F8):c.6049del:p.Val2017fs	coding	Pathogenic
X	154903939	CCTCTT	C	C154903940T	F8	NM_000132.3(F8):c.5960_5964del:p.Lys1987fs	coding	Pathogenic
X	154903942	CT	C	T154903949C	F8	NM_000132.3(F8):c.5961del:p.Glu1988fs	coding	Pathogenic
X	154903949	TC	T	C154903950G	F8	NM_000132.3(F8):c.5954del:p.Arg1985fs	coding	Pathogenic
X	154903988	GAT	G	A154903989G	F8	NM_000132.3(F8):c.5914_5915del:p.Ile1972fs	coding	Pathogenic
X	154904391	C	CT	G154904396T	F8	NM_000132.3(F8):c.5719dup:p.Ser1907fs	coding	Pathogenic
X	154904488	G	GA	G154904491A	F8	NM_000132.3(F8):c.5622dup:p.Leu1875fs	coding	Pathogenic
X	154905041	CA	C	A154905053G	F8	NM_000132.3(F8):c.5374-19del	noncoding	Benign
X	154928853	GC	G	C154928856A	F8	NM_000132.3(F8):c.4936del:p.Ala1646fs	coding	Pathogenic
X	154928931	AG	A	G154928934A	F8	NM_000132.3(F8):c.4858del:p.Ser1619_Leu1620insTer	coding	Pathogenic
X	154928964	G	GT	C154928971T	F8	NM_000132.3(F8):c.4825dup:p.Thr1609fs	coding	Pathogenic
X	154929410	AT	A	T154929418G	F8	NM_000132.3(F8):c.4379del:p.Asn1460fs	coding	Pathogenic
X	154929458	ATCTT	A	T154929466A	F8	NM_000132.3(F8):c.4324_4327AAGA[1]:p.Lys1443fs	coding	Pathogenic
X	154929489	TGAGAA	T	A154929493T	F8	NM_000132.3(F8):c.4296_4300del:p.His1434fs	coding	Pathogenic
X	154929665	GTCTA	G	A154929669G	F8	NM_000132.3(F8):c.4121_4124del:p.Ile1374fs	coding	Pathogenic
X	154929922	TTTTTGAG	T	T154929923A	F8	NM_000132.3(F8):c.3861_3867del:p.Phe1287fs	coding	Pathogenic
X	154930097	AG	A	G154930099C	F8	NM_000132.3(F8):c.3692del:p.Pro1231fs	coding	Pathogenic
X	154930152	AT	A	T154930161C	F8	NM_000132.3(F8):c.3637del:p.Ile1213fs	coding	Pathogenic/Likely_pathogenic
X	154930240	CTT	C	T154930242G	F8	NM_000132.3(F8):c.3548_3549del:p.Lys1183fs	coding	Pathogenic
X	154930695	GTCTT	G	T154930699A	F8	NM_000132.3(F8):c.3091_3094del:p.Lys1031fs	coding	Pathogenic
X	154930826	ACT	A	C154930831G	F8	NM_000132.3(F8):c.2958_2959AG[2]:p.Ser988fs	coding	Pathogenic
X	154930844	A	AT	C154930851T	F8	NM_000132.3(F8):c.2945dup:p.Asn982fs	coding	Pathogenic
X	154930844	AT	A	T154930850C	F8	NM_000132.3(F8):c.2945del:p.Asn982fs	coding	Pathogenic
X	154931054	ATT	A	T154931055G	F8	NM_000132.3(F8):c.2734_2735del:p.Asn912fs	coding	Pathogenic
X	154957112	T	TC	A154957115C	F8	NM_000132.3(F8):c.1596dup:p.Thr533fs	coding	Pathogenic
X	154961139	T	TGGTCTG	C154961146G	F8	NM_000132.4(F8):c.1467_1472dup:p.Arg490_Pro491dup	coding	Pathogenic
X	154966059	CTG	C	G154966063A	F8	NM_000132.3(F8):c.1350_1351CA[1]:p.Thr451fs	coding	Pathogenic
X	154966119	TC	T	C154966120A	F8	NM_000132.3(F8):c.1293del:p.Asn432fs	coding	Pathogenic
X	154966498	GTT	G	T154966501A	F8	NM_000132.3(F8):c.1197_1198del:p.Lys399fs	coding	Pathogenic
X	154966616	CTTCA	C	C154966619A	F8	NM_000132.3(F8):c.1077_1080del:p.Asn359fs	coding	Pathogenic
X	154966617	TTC	T	T154966618A	F8	NM_000132.3(F8):c.1078_1079del:p.Glu360fs	coding	Pathogenic
X	154969396	GC	G	C154969397A	F8	NM_000132.3(F8):c.943del:p.Ala315fs	coding	Pathogenic
X	154969432	GC	G	C154969434T	F8	NM_000132.3(F8):c.907del:p.Ala303fs	coding	Pathogenic
X	154969490	CA	C	A154969491G	F8	NM_000132.3(F8):c.849del:p.Glu284fs	coding	Pathogenic
X	154984784	TTC	T	C154984786G	F8	NM_000132.3(F8):c.688_689del:p.Glu230fs	coding	Pathogenic
X	154992935	C	CG	C154992936G	F8	NM_000132.3(F8):c.601_602insC:p.Gly201fs	coding	Pathogenic
X	154996981	GC	G	C154996982T	F8	NM_000132.3(F8):c.379del:p.Ala127fs	coding	Pathogenic
X	154996995	TAC	T	A154996998C	F8	NM_000132.3(F8):c.362_363GT[1]:p.Val122fs	coding	Pathogenic
X	154997090	GC	G	C154997091A	F8	NM_000132.3(F8):c.270del:p.Leu90_Leu91insTer	coding	Pathogenic
X	154999531	TACAA	T	A154999535G	F8	NM_000132.3(F8):c.209_212del:p.Leu69_Phe70insTer	coding	Pathogenic
X	154999537	CAG	C	A154999540T	F8	NM_000132.4(F8):c.205_206del:p.Leu69fs	coding	Pathogenic
X	154999543	CTT	C	T154999547G	F8	NM_000132.3(F8):c.199_200del:p.Lys67fs	coding	Pathogenic
X	155020667	AAAGAATAATGGGCAAATCATATGACTAATTAAATCCCCCAAATAAATCCAATAGCCAACAAGCATTTAAAAAGATGCTCAACTTATTAGAAATAAAAATAACACAATGAAAGTAATGATGCAATATCACTCTACACCTGTAAAATTGGCAAATTTTAAAAACAGGATAAAACTTATCGCTATGTGAATGCAGAGAGAAGGCCATTTTCATACTTCGATGGTAGAAATGTTTGAAAAGTTCTGACCTCTTTGGAAATTAAAACTTAGAAGGAAACATTCCCTTCGTTCCATTAATATTCCTCTTGCAAGTTTGTTCAACAGAAGTAAAAGCACCAGTATGTAATGATATAGGATATAGTAGCCAAAAACTGGAATAAAGTGAACATATTGACTAAATTGTGATACAGCCATACCATAGAATCTTATATAGCCAATAAAAATAATGAATTAAAGCTATACCAATTGACTTAGAGTTCTAGTACGTGTTAATGAGTGAGAAATGTGTGTATAATGTCCCAATTTTATAAAACAAATAATGTCCAAGAAAACCTTTGTGTGTGTGTATGTGTATGTGAATATATATTATCATACTGGGGTTACCTAGCTGAGGTGGGGGAGAAGGGGACTG	A	A155020669T	F8	NM_000132.4(F8):c.143+1116_143+1742del	noncoding	Pathogenic
X	155022502	GCAGAATCGCAAAAGGCACAGAAAGAAGCAGGTGGAGAGCTCTATTTGCATGACTTATTGCTACAAATGTTCAACTGGAGAAGCAAAAGGTTAATTCTTCTCTAAAATATCTTTAGCTCCCAGGAGGGGAAAAAAGTAAAATTTCTGATTTAATGAAAAGTCCCAATTTCTTTGCAGAGCATTTTAAGGAACTTTACCCACTGGATGTGCTCAGCACTAAGCAGTAACCGATAGGATTGCTTCCTTTTTATCAGTGGGAAGCAGCCACAGGAAGAACTGAAGTAGCAAAAGGGAGGCTGCTAAACTTAACCCATTCACTTCTGAGAGCAGTAGGGGCATAAGTCTGCTTTAATCAGAACCTTTAAGGAAAGGAGGAGAGGGATGGAGAAGTCAAAGTGAACAGGAGCTTTAATTTGTGCTCCTATTCCTAGCCTACTCCAACCCTCTTCCTGAGTGGCAGCAGCAAGAGAAGTTCTGGATGTTGTCGAAGATTCTAGAATTCACTTGCACTAGCAAGAGTAACCAGCAACCTGTTAGTCTCTCTGCTTTTGCCCTTGCCCCTCACACTGCTGCCAGTATGAGGAATTTATAGTTTTTAAAACTGTAGTTTTACATATAACATGAGGTTAGGCAACTATTGTTTTAAAAACTATAATTTATAGTTATAATTTAAAACTATAAAGCGAGTCCTGTCACTCCTCTTCTCAGAATCCTCCAATGGCTTCTGACCTCCATCAGGGTAAAACCCTACATCTTTACCATGGCCTAGGTCCTAGAGCATCCCACATGGTCTGCATGCCCTTTCTCCTGACCTCTGTAGTCTCATCTCACTCTGGTTATACTGGTCTCCTTACTCTTCCCTAAAATATCAAGCACACTCATGCCCCTGGACCTCAACACTTGCTATTTCTTTTACCCAAAACACCTTTCCCCCAGATTTCCACGTAGTTCCACTCCCACAACTCCTTCACATTTCAGCTCCAATCTTCCCTGTTGAATGAGGTTTAAATATGGAACACCACATTTATGTTGTAAGCTCTTTACCCCCACCTGCATCACTGATATCCCTCTTGGCTTCATTTTTCTCAATAGCACTCATAACCACCTGGCATTTATTCATTTATTTATTTTGTTTTGTTTTTAACCTAACACTTTTCCAGGCTGTTTACATTTGGCCCAGGTATAGGATATATCTCTTTACATCAGAATGTAGCCATGGTGAGCTCAAACACCCTACTCAGGTTAATGTTTATTAGGGAGAGTGAGGGCCCCTGCAGGGGCCTCAAAGTGTAAGAGATTATGAGAAGAAACTTGATCAGGGTTGCTATAAAAATGTTATCATTGAGCTCAGTTCTGCACAAACAAGAATGTGTTAGGGAGCAATTGGTATATTGTCGACTGGTTTGGAAACAGGCAGCAAGAAGCCCCTTTGATAAACACTCCTCTCTGACAGGTACAAGGATGCAGAGATGACAGCTGACACTATATGCCAGGAACTGTTCTAGGTGCTTTTAAATACAGGTACTATTCTTACCTTCATTTTATGGGTGATGAAACTGAAGCACGGAGAGGTTAGGCAACTTCTCCATGGCCACACAGCTTGTGAGTGGTAGCATTCAAACCCATGTACTCTGGCTCCAGAAGTCATGCTCCTAACCACTATGCTATACTTCTATGCCTCAGAAATGAAGAAATCCCAGTTCCCAACCCCCTGGGAATGACAGTCCAATGGAGGAGACAGAAAAGTAGACAGTTACAGTACAGGGTGATAAATTCACTGCCAGGTGCTACACATAGGCTATCTGATTTAATCCTCATGACAACACCGCAAAGTGGATACAGATAAAGTAACTGAGGTACAGAGAGGTTAAATGGCTTGCCTACAGCCACATAACTACCCATTTGTCCTAGACAGATATTGTCCTAGGCACTGGGTACACATTGATGAAAAATATAAGCAACTGAAAGAGGGATGATAAGCAATAATTACAATACATGAGTACATTATACAGTATGTTAGAAGGTAAAATAAGTGCTGTGCAAAAAAGAGAAGTGGGGTAAGGGGGAGTAAGGGTGGACCAGGTTGCAATTTTAAAGGAGGTTAGTCATGGAAAGTTTCACTAAGGTTGCATTTCAGCAAAGGGACATTGACTTCTACACTGAGGGCAATGGGGAGACACGGCCGGGTTGTGAGTAGAGGAGGGTGGTGATCAGAATTATCTTTTAGGCTGATCTTTCTGATCACTGTAGATAAAACAAACTCTAGCAGGATAAGGGTAGAAGGAGGGTGGCCTGTTAACCGGGGGTGAGAAATGGTGGCGGCTTGGGCTATGATGGTACCACTGGAGAGGGTGAAAAATGGCTGGATTCATTGTGAGGGTAACGTTTGTGGGAACTGCTGATGAATTTTGGATCTGTGGGCTTTGAGAAGGAAAAATTTGGAACACCAAGTTTTTTGGAATAAAGTTGACTAACTGGGATGGGGATGACTGCATGAGTAGCTTAGGGGCGGGGCACACTGTTAAAGGGCTCCTCAGGCACTGCAGGCATAGAAGCTCCTTTCTTTCCCAGTGCTTCTCTTATAGCGATTACAATGTTTTAAAAATGTGTCTTCCAGACAAATACAGTACAATCCAACATGTTTGAGGTTCTACAGTTAACAGATTGTATAATTAATAATCTGGGTGGGAATGTTAATCAGGAATGAAATACAATTTAAAAATTAACAAAGTAATGAGTCAGAGGCTATATTGATAGAAGCACTTTTTAAGGAATAGCATTCCCTGGCCCAAGGGCTTAGTTGATTGAAAATTTTATCTATTATTGCTAAATTTTAAATCAAAATATGGCCGGGCACGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGCAGATCACGAGGTCAGGAGATCTAGACCATCCTAGCTAACAAGATGAAACTCCTCCTCTACTAAAAATACAAAAAATTAGCCGGGCATGGTGGCACGTGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGTGGAGCTTGCAGTGAGCCGAGATCGCGCCACTGCACTCCAGCCTGGGCAA	G	G155022505A	F8	NG_011403.1:g.2114_5221del	coding	Pathogenic
X	155026934	TGGGAATGGAAACATCTGCCCCACGTGCCGGAAGCCAAGTGGTGGCGACAACTGCGCGCCACTCCGCGGCCTACCGCGCAGATCCTCTACGTGTGTCCTCGCGAGACAAGCTCACCGAAATGGCCGCGTCCAGTCAAGGTAAGGGCGGGCGCGCGCGCGGCCGGCGCCGCGGGGAGCCGCCTTCCTG	T	G155026937C	F8	NM_023934.4(FUNDC2):c.-2_133+51del	noncoding	Pathogenic
X	155506930	GAT	G	A155506933T	TMLHE	NM_018196.4(TMLHE):c.959_960AT[1]:p.Ile321fs	coding	Pathogenic
Y	2787236	TTCTC	T	C2787240G	SRY	NM_003140.3(SRY):c.362_363GA[1]:p.Glu122fs	coding	Pathogenic
Y	2787279	AT	A	T2787280G	SRY	NM_003140.3(SRY):c.324del:p.Phe109fs	coding	Pathogenic
Y	2787339	C	CT	G2787341T	SRY	NM_003140.3(SRY):c.264dup:p.Glu89fs	coding	Pathogenic
